Gene Rare Germline Truncation Count (Gene-based) Sanger Cancer Census TCGA AML Somatic Mutation Frequency Chromosome GRCh37 Start Position GRCh37 End Position NCBI36 Start Position NCBI 36 End Position Variant Classification Variant Type Ref Allele Variant Allele Individual ID Rare Germline Truncation Count (Individual) Age Transcript Amino acid change ** Protein Domain dbSNP 135 rsID dbSNP 135 Validation Status dbSNP 135 Submitters Cosmic Results OMIM Results NHLBI EUR Freq NHLBI AFR Freq NHLBI AF Freq 1000Genomes EUR Freq 1000Genomes AFR Freq 1000G AF Freq Normal Ref Reads Normal Var Reads Normal VAF*** Tumor Ref Reads Tumor Var Reads Tumor VAF*** RNA Ref RNA Var RNA VAF A2M 2 0 0 12 9231868 9231868 9123135 9123135 Nonsense_Mutation SNP G A TCGA-AB-2820 6 76 NM_000014.4 p.R1031* "superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp" 0 0 0 Novel: Amino Acid -> Known AA = F1290L (1) T1106T (1) T306N (1) G367R (1) Novel: Amino Acid NA NA NA NA NA NA 85 113 56.78 88 106 54.64 1 0 0 A2M 2 0 0 12 9258831 9258831 9150098 9150098 Splice_Site SNP C T TCGA-AB-2971 3 76 NM_000014.4 e10+1 0 0 0 0 Novel: Amino Acid -> Known AA = F1290L (1) T1106T (1) T306N (1) G367R (1) "Novel, but near match: Amino Acid" NA NA NA NA NA NA 19 13 40.62 32 19 37.25 NA NA NA A2ML1 3 0 0 12 8995925 8995926 8887192 8887193 Frame_Shift_Del DEL AG 0 TCGA-AB-2901 10 27 NM_144670.3 p.S482fs HMMPfam_A2M_N_2 0 0 0 Novel: Amino Acid -> Known AA = R1345* (1) A307A (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0 0.06 0.01 111 35 23.65 73 23 23.96 0 0 0 A2ML1 3 0 0 12 8995925 8995926 8887192 8887193 Frame_Shift_Del DEL AG 0 TCGA-AB-2810 8 76 NM_144670.3 p.S482fs HMMPfam_A2M_N_2 0 0 0 Novel: Amino Acid -> Known AA = R1345* (1) A307A (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0 0.06 0.01 100 39 27.86 72 38 34.23 0 0 0 A2ML1 3 0 0 12 9000236 9000236 8891503 8891503 Frame_Shift_Del DEL G 0 TCGA-AB-2895 3 41 NM_144670.3 p.A593fs HMMPfam_A2M_N_2 0 0 0 Novel: Amino Acid -> Known AA = R1345* (1) A307A (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 588 263 30.8 358 156 30.35 0 0 0 AAAS 1 0 0 12 53702529 53702530 51988796 51988797 Frame_Shift_Del DEL AG 0 TCGA-AB-2921 6 55 NM_015665.5 p.L356fs superfamily_WD40_like 0 0 0 Novel: Amino Acid -> Known AA = S495S (1) Novel: Amino Acid NA NA NA NA NA NA 551 205 26.94 293 113 27.83 69 22 23.66 AARS2 1 0 0 6 44273389 44273389 44381367 44381367 Splice_Site DEL C 0 TCGA-AB-2818 11 62 NM_020745.2 e10+1 0 0 0 0 Novel: Amino Acid -> Known AA = V90M (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 209 95 31.05 81 35 29.41 12 11 45.83 AASS 1 0 0 7 121717945 121717948 121505181 121505184 Frame_Shift_Del DEL ATGG 0 TCGA-AB-2939 9 72 NM_005763.3 p.A869fs "HMMPfam_Saccharop_dh,superfamily_Glyceraldehyde-3-phosphate dehydrogenase-like C-terminal domain" 0 0 0 Novel: Amino Acid -> Known AA = S191R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 219 86 28.2 299 126 29.65 0 0 0 ABCA10 2 0 0.005 17 67183821 67183821 64695416 64695416 Splice_Site SNP C T TCGA-AB-2915 9 73 NM_080282.3 e17+1 0 0 0 0 Novel: Amino Acid -> Known AA = Q532H (1) L930F (1) R768M (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 143 107 42.8 51 46 47.42 0 0 0 ABCA10 2 0 0.005 17 67189338 67189338 64700933 64700933 Nonsense_Mutation SNP G A TCGA-AB-2901 10 27 NM_080282.3 p.R565* "HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases" 0 0 0 Novel: Amino Acid -> Known AA = Q532H (1) L930F (1) R768M (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 144 141 49.3 121 119 49.38 1 0 0 ABCA13 2 0 0 7 48391885 48391885 48362431 48362431 Nonsense_Mutation SNP C T TCGA-AB-2926 9 57 NM_152701.3 p.R3497* NULL 0 0 0 Novel: Amino Acid -> Known AA = V3792A (1) Q2512* (1) G4893D (1) S1462T (1) G471C (1) T2493I (1) S2454I (1) L1557L (1) L4172L (1) A955E (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0 0 0.0005 55 57 50.89 72 84 53.85 NA NA NA ABCA13 2 0 0 7 48467362 48467362 48437908 48437908 Splice_Site SNP G A TCGA-AB-2919 4 54 NM_152701.3 e42-1 0 0 0 0 Novel: Amino Acid -> Known AA = V3792A (1) Q2512* (1) G4893D (1) S1462T (1) G471C (1) T2493I (1) S2454I (1) L1557L (1) L4172L (1) A955E (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 22 21 48.84 32 20 38.46 NA NA NA ABCA8 2 0 0 17 66872845 66872845 64384440 64384440 Splice_Site SNP C G TCGA-AB-2982 3 29 NM_007168.2 e31-1 0 rs184510635 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = D726Y (1) R1501Q (1) Novel: Amino Acid - OMIM Gene Name Not Found 0 0.0535 0.0186 0 0 0.0041 11 12 52.17 16 19 54.29 1 0 0 ABCA8 2 0 0 17 66933159 66933159 64444754 64444754 Nonsense_Mutation SNP G T TCGA-AB-2891 7 42 NM_007168.2 p.Y133* NULL 0 0 0 Novel: Amino Acid -> Known AA = D726Y (1) R1501Q (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 45 42 48.28 57 50 46.73 0 0 0 ABCB11 1 0 0.005 2 169814473 169814473 169522719 169522719 Splice_Site SNP C A TCGA-AB-2828 5 55 NM_003742.2 e18+1 0 0 0 0 Novel: Amino Acid -> Known AA = R1050H (1) L800P (1) P356S (1) A995V (1) R1235* (1) Novel: Amino Acid NA NA NA NA NA NA 46 34 42.5 40 47 54.02 0 0 0 ABCB5 1 0 0 7 20691041 20691041 20657566 20657566 Splice_Site SNP A G TCGA-AB-2876 3 45 NM_178559.5 e1-2 0 rs193255587 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = R440H (1) A435T (1) E230V (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0997 0.0268 0.0744 0.0013 0 0.0005 62 50 44.64 54 50 48.08 0 0 0 ABCB6 1 0 0 2 220083020 220083020 219791264 219791264 Frame_Shift_Del DEL C 0 TCGA-AB-2975 6 54 NM_005689.1 p.V126fs NULL 0 0 0 Novel: Amino Acid -> Known AA = R638C (1) R69G (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 18 5 20.83 17 6 25 NA NA NA ABCB8 1 0 0 7 150730771 150730771 150361704 150361704 Nonsense_Mutation SNP C T TCGA-AB-2821 5 64 NM_007188.3 p.R59* NULL 0 0 0 Novel: Amino Acid -> Known AA = A673G (1) I148T (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 19 26 57.78 17 22 56.41 11 8 42.11 ABCC4 1 0 0 13 95768242 95768243 94566243 94566244 Frame_Shift_Ins INS 0 T TCGA-AB-3000 6 25 NM_005845.3 p.N823fs "HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain" 0 0 0 Novel: Amino Acid -> Known AA = A1279T (1) G770R (1) F368F (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 36 15 40.54 28 12 40 1 0 0 ABCG2 1 0 0 4 89016686 89016686 89235710 89235710 Nonsense_Mutation SNP G A TCGA-AB-2909 9 22 NM_004827.2 p.R575* HMMPfam_ABC2_membrane 0 0 0 Novel: Amino Acid -> Known AA = E190K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 35 44 55.7 48 52 52 0 1 100 ABHD4 1 0 0 14 23075366 23075366 22145206 22145206 Frame_Shift_Del DEL C 0 TCGA-AB-2997 6 25 NM_022060.2 p.R227fs "HMMPfam_Abhydrolase_1,superfamily_SSF53474" 0 0 0 Novel: Amino Acid -> Known AA = Y287Y (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 39 16 29.09 30 22 42.31 NA NA NA ABLIM1 2 0 0 10 116205082 116205082 116195072 116195072 Nonsense_Mutation SNP G A TCGA-AB-2926 9 57 NM_002313.5 p.Q606* NULL 0 0 0 Novel: Amino Acid -> Known AA = ? (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 111 101 47.64 122 110 47.01 NA NA NA ABLIM1 2 0 0 10 116245085 116245085 116235075 116235075 Nonsense_Mutation SNP G A TCGA-AB-2818 11 62 NM_001003408.1 p.R306* NULL rs182557837 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = ? (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0 0 0.0009 9 10 52.63 14 8 36.36 0 0 0 ACAD10 1 0 0 12 112182548 112182549 110666931 110666932 Frame_Shift_Del DEL AA 0 TCGA-AB-2941 4 73 NM_001136538.1 p.K637fs NULL 0 0 0 Novel: Amino Acid -> Known AA = R939R (1) F210C (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 71 36 33.33 42 25 36.23 15 11 42.31 ACAD11 1 0 0 3 132322121 132322121 133804811 133804811 Nonsense_Mutation SNP G A TCGA-AB-2996 6 75 NM_032169.4 p.R525* "HMMPfam_Acyl-CoA_dh_M,superfamily_Acyl-CoA dehydrogenase NM domain-like" 0 0 0 Novel: Amino Acid -> Known AA = L78L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 11 10 47.62 19 24 55.81 10 12 54.55 ACBD4 1 0 0 17 43213913 43213913 40569439 40569439 Nonsense_Mutation SNP C G TCGA-AB-2965 7 60 NM_001135704.1 p.Y45* "HMMPfam_ACBP,PatternScan_ACB_1,superfamily_ACBP" 0 0 0 Novel: Amino Acid -> Known AA = R67* (1) F116fs* (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0151 0 0.0103 NA NA NA 8 7 46.67 16 14 46.67 9 1 10 ACCN4 1 0 0 2 220397659 220397666 220105903 220105910 Splice_Site DEL TGGGTCCG 0 TCGA-AB-2858 3 75 NM_018674.4 e6-1 0 0 0 0 Novel: Amino Acid -> Known AA = M513I (1) *667Y (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 55 19 25.68 62 24 27.91 NA NA NA ACTBL2 1 0 0.005 5 56777757 56777758 56813514 56813515 Frame_Shift_Ins INS 0 A TCGA-AB-2916 6 49 NM_001017992.2 p.E259fs "HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain" 0 0 0 Novel: Amino Acid -> Known AA = H162N (1) F201L (1) L294L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 61 22 36.07 57 25 41.67 0 0 0 ACTL9 1 0 0 19 8808149 8808150 8669149 8669150 Frame_Shift_Ins INS 0 A TCGA-AB-2844 4 63 NM_178525.3 p.F302fs "HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain" 0 0 0 Novel: Amino Acid -> Known AA = R220H (1) A332T (1) A42D (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 139 57 40.43 220 100 44.05 0 0 0 ACTRT1 2 0 0 X 127185638 127185639 127013319 127013320 Frame_Shift_Ins INS 0 T TCGA-AB-2845 12 37 NM_138289.3 p.M183fs "HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067" 0 0 0 Novel: Amino Acid -> Known AA = R231C (1) ? (1) K316N (1) K54K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0 0 0 113 54 46.96 433 185 42.05 0 0 0 ACTRT1 2 0 0 X 127185638 127185639 127013319 127013320 Frame_Shift_Ins INS 0 T TCGA-AB-2816 3 57 NM_138289.3 p.M183fs "HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067" 0 0 0 Novel: Amino Acid -> Known AA = R231C (1) ? (1) K316N (1) K54K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0 0 0 100 45 43.27 231 106 44.54 0 0 0 ADAM15 1 0 0 1 155028330 155028330 153294954 153294954 Splice_Site SNP T C TCGA-AB-2836 4 35 NM_207197.1 e7+2 0 0 0 0 Novel: Amino Acid -> Known AA = G138E (1) S381S (1) G27S (1) G741D (1) L402F (1) G405E (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0142 0 0.0093 NA NA NA 264 219 44.79 202 176 45.36 9 30 76.92 ADAM18 1 0 0 8 39581304 39581304 39700461 39700461 Nonsense_Mutation SNP G A TCGA-AB-2986 3 31 NM_014237.1 p.W685* NULL 0 0 0 Novel: Amino Acid -> Known AA = E712K (1) T487T (1) D330D (1) T583I (1) M45I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 24 24 50 19 8 28.57 0 0 0 ADAMTS16 1 0 0.005 5 5306757 5306757 5359757 5359757 Nonsense_Mutation SNP C A TCGA-AB-2834 7 33 NM_139056.2 p.C1109* "HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat" 0 0 0 Novel: Amino Acid -> Known AA = ? (1) C683C (1) D733D (1) S821S (1) R820P (1) Y785N (1) V315V (1) A653A (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.045 0 0.0303 0.0013 0 0.0005 22 80 78.43 6 46 88.46 0 0 0 ADAMTS2 1 0 0 5 178699927 178699927 178632533 178632533 Nonsense_Mutation SNP G A TCGA-AB-2981 5 35 NM_014244.2 p.Q225* NULL rs137853146 unknown "OMIM-CURATED-RECORDS," Novel: Amino Acid -> Known AA = H209N (1) K1091R (1) Y856Y (1) D684D (1) Match: Amino Acid NA NA NA NA NA NA 7 13 65 7 5 41.67 16 2 11.11 ADAMTS8 1 0 0 11 130284641 130284641 129789851 129789851 Nonsense_Mutation SNP G A TCGA-AB-2918 6 47 NM_007037.4 p.Q451* HMMSmart_SM00608 0 0 0 Novel: Amino Acid -> Known AA = T653I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 18 16 47.06 7 12 63.16 NA NA NA ADAMTSL1 1 0 0.005 9 18680427 18680427 18670427 18670427 Nonsense_Mutation SNP G A TCGA-AB-2866 9 67 NM_001040272.4 p.W418* "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat" 0 0 0 Novel: Amino Acid -> Known AA = G127R (1) S282S (1) C49C (1) K193T (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 173 95 35.45 121 104 46.02 0 0 0 ADAMTSL3 1 0 0 15 84582037 84582037 82373041 82373041 Nonsense_Mutation SNP C T TCGA-AB-2867 5 66 NM_207517.2 p.R632* NULL 0 0 0 Novel: Amino Acid -> Known AA = R587H (1) L455M (1) R958W (1) R855C (1) W343C (1) A1526A (1) V330M (1) I1645F (1) Q1235Q (1) D1482N (1) W81* (1) P702T (1) N1166I (1) R509R (1) R855H (1) A1315E (1) A1067A (1) I195M (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 29 25 46.3 42 52 55.32 0 0 0 ADAP2 1 0 0 17 29283489 29283489 26307615 26307615 Splice_Site DEL T 0 TCGA-AB-2897 9 50 NM_018404.2 e10+2 0 0 0 0 Novel: Amino Acid -> Known AA = L83F (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 64 27 29.67 45 23 33.82 0 0 0 ADH1A 3 0 0 4 100205872 100205872 100424895 100424895 Splice_Site SNP C G TCGA-AB-2894 6 50 NM_000667.2 e4+1 0 rs190428650 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = V84V (1) T195T (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0.0013 0 0.0014 61 73 54.48 41 60 59.41 0 0 0 ADH1A 3 0 0 4 100208760 100208761 100427783 100427784 Frame_Shift_Ins INS 0 A TCGA-AB-2844 4 63 NM_000667.2 p.E28fs superfamily_GroES-like 0 0 0 Novel: Amino Acid -> Known AA = V84V (1) T195T (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 135 69 49.64 168 73 42.69 0 0 0 ADH1A 3 0 0 4 100208761 100208788 100427784 100427811 Frame_Shift_Del DEL ACCTCCTCAATGGAAAAGGGTTTCTTTA 0 TCGA-AB-2809 2 64 NM_000667.2 p.L18fs superfamily_GroES-like 0 0 0 Novel: Amino Acid -> Known AA = V84V (1) T195T (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 58 16 21.62 98 24 19.67 NA NA NA ADSSL1 1 0 0 14 105208340 105208340 104279385 104279385 Splice_Site SNP G A TCGA-AB-2888 4 57 NM_199165.1 e9+1 0 0 0 0 Novel: Amino Acid -> Known AA = F432I (1) P150S (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0142 0 0.0093 NA NA NA 23 14 37.84 22 19 46.34 0 0 0 AGER 1 0 0 6 32150890 32150890 32258868 32258868 Splice_Site SNP C A TCGA-AB-2990 7 51 NM_001136.3 e5+1 0 0 0 0 Novel: Amino Acid -> Known AA = L388M (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0223 0 0.0133 NA NA NA 13 24 64.86 7 15 68.18 7 6 46.15 AGXT2 1 0 0.005 5 35010248 35010248 35046005 35046005 Nonsense_Mutation SNP T A TCGA-AB-2812 12 25 NM_031900.3 p.K399* "HMMPfam_Aminotran_3,superfamily_PyrdxlP-dep_Trfase_major" 0 0 0 Novel: Amino Acid -> Known AA = L14L (1) R182T (1) C464R (1) Novel: Amino Acid - OMIM Gene Name Not Found 0 0.0268 0.0093 NA NA NA 625 575 47.92 260 272 51.13 0 0 0 AHCYL2 1 0 0 7 129062714 129062714 128849950 128849950 Nonsense_Mutation SNP C T TCGA-AB-2877 9 60 NM_015328.2 p.R499* "HMMPfam_AdoHcyase,HMMPfam_AdoHcyase_NAD,superfamily_NAD(P)-bd,superfamily_SSF52283" 0 0 0 Novel: Amino Acid -> Known AA = D287G (1) Q150* (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 249 179 41.72 217 234 51.66 19 4 17.39 AHI1 1 0 0 6 135776913 135776913 135818606 135818606 Nonsense_Mutation SNP G A TCGA-AB-2903 8 76 NM_001134830.1 p.R435* superfamily_WD40 repeat-like rs121434349 unknown "OMIM-CURATED-RECORDS," Novel: Amino Acid -> Known AA = L71P (1) T850A (1) P508S (1) Match: Amino Acid 0 0.0686 0.0212 NA NA NA 5 7 58.33 20 14 41.18 6 1 14.29 AKAP3 1 0 0 12 4737937 4737937 4608198 4608198 Nonsense_Mutation SNP C T TCGA-AB-2992 8 32 NM_006422.2 p.W44* HMMSmart_SM00807 0 0 0 Novel: Amino Acid -> Known AA = G69E (1) R255I (1) R831C (1) H325Y (1) G818D (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0285 0 0.0186 NA NA NA 21 22 51.16 14 26 65 0 0 0 ALDOC 1 0 0 17 26901091 26901092 23925218 23925219 Frame_Shift_Ins INS 0 A TCGA-AB-2992 8 32 NM_005165.2 p.V264fs "HMMPfam_Glycolytic,superfamily_Aldolase" 0 0 0 Novel: Amino Acid -> Known AA = R304C (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 26 8 30.77 24 12 44.44 7 0 0 ALG1 1 0 0 16 5128757 5128757 5068758 5068758 Splice_Site SNP G T TCGA-AB-2944 4 48 NM_019109.4 e7-1 0 0 0 0 Novel: Amino Acid -> Known AA = Q339R (1) Novel: Amino Acid NA NA NA NA NA NA 13 12 48 8 15 65.22 1 0 0 ALKBH1 1 0 0 14 78170711 78170711 77240464 77240464 Splice_Site SNP C T TCGA-AB-2830 7 64 NM_006020.2 e2+1 0 0 0 0 Novel: Amino Acid -> Known AA = F353F (1) D142N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 121 106 46.7 157 165 51.24 1 9 90 ALLC 3 0 0 2 3730635 3730635 3708510 3708510 Nonsense_Mutation SNP G A TCGA-AB-2979 5 30 NM_018436.3 p.W161* "superfamily_Gal_bind_like,HMMPfam_Allantoicase" 0 0 0 Novel: Amino Acid -> Known AA = D355D (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.1196 0.0626 0.1012 NA NA NA 4 12 75 28 15 34.88 0 0 0 ALLC 3 0 0 2 3730635 3730635 3708510 3708510 Nonsense_Mutation SNP G A TCGA-AB-2974 3 67 NM_018436.3 p.W161* "superfamily_Gal_bind_like,HMMPfam_Allantoicase" 0 0 0 Novel: Amino Acid -> Known AA = D355D (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.1196 0.0626 0.1012 NA NA NA 13 16 55.17 14 12 46.15 NA NA NA ALLC 3 0 0 2 3730635 3730635 3708510 3708510 Nonsense_Mutation SNP G A TCGA-AB-2833 7 77 NM_018436.3 p.W161* "superfamily_Gal_bind_like,HMMPfam_Allantoicase" 0 0 0 Novel: Amino Acid -> Known AA = D355D (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.1196 0.0626 0.1012 NA NA NA 734 574 43.85 343 546 61.35 0 0 0 ALMS1 1 0 0.005 2 73678793 73678794 73532301 73532302 Frame_Shift_Ins INS 0 T TCGA-AB-2830 7 64 NM_015120.4 p.Y1712fs NULL 0 0 0 Novel: Amino Acid -> Known AA = ? (2) K1216K (1) K4066M (1) P1968H (1) A2623A (1) Novel: Amino Acid NA NA NA NA NA NA 132 35 25.55 164 66 39.52 8 0 0 ALOXE3 1 0 0 17 8011785 8011785 7952510 7952510 Splice_Site SNP C T TCGA-AB-2860 5 60 NM_021628.2 e12+1 0 0 0 0 Novel: Amino Acid -> Known AA = Y506* (1) L679fs*> (1) Novel: Amino Acid NA NA NA NA NA NA 59 41 41 61 18 22.78 0 0 0 ALS2CR11 1 0 0.005 2 202466561 202466561 202174806 202174806 Frame_Shift_Del DEL G 0 TCGA-AB-3007 3 35 NM_152525.5 p.N139fs NULL 0 0 0 Novel: Amino Acid -> Known AA = K123M (1) P289T (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 36 20 35.71 42 17 28.81 0 0 0 AMT 1 0 0 3 49456779 49456780 49431783 49431784 Frame_Shift_Ins INS 0 G TCGA-AB-2997 6 25 NM_000481.3 p.F203fs "HMMPfam_GCV_T,superfamily_Aminomethyltransferase folate-binding domain" 0 0 0 Novel: Amino Acid -> Known AA = Y273Y (1) Novel: Amino Acid NA NA NA NA NA NA 20 9 45 21 10 47.62 NA NA NA ANKRD30A 7 0 0.005 10 37414929 37414929 37454935 37454935 Nonsense_Mutation SNP C T TCGA-AB-2972 4 82 NM_052997.2 p.Q16* "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" 0 0 0 Novel: Amino Acid -> Known AA = L1017R (1) Q171E (1) T608T (1) P818P (1) D270E (1) I327N (1) C285S (1) I327I (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.1517 0.0331 0.1144 NA NA NA 7 13 65 8 4 33.33 0 0 0 ANKRD30A 7 0 0.005 10 37414929 37414929 37454935 37454935 Nonsense_Mutation SNP C T TCGA-AB-2994 9 25 NM_052997.2 p.Q16* "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" 0 0 0 Novel: Amino Acid -> Known AA = L1017R (1) Q171E (1) T608T (1) P818P (1) D270E (1) I327N (1) C285S (1) I327I (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.1517 0.0331 0.1144 NA NA NA 4 13 76.47 12 12 50 0 0 0 ANKRD30A 7 0 0.005 10 37442591 37442591 37482597 37482597 Splice_Site SNP G T TCGA-AB-2919 4 54 NM_052997.2 e13+1 0 0 0 0 Novel: Amino Acid -> Known AA = L1017R (1) Q171E (1) T608T (1) P818P (1) D270E (1) I327N (1) C285S (1) I327I (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0308 0 0.0213 NA NA NA 85 17 16.67 143 25 14.88 NA NA NA ANKRD30A 7 0 0.005 10 37442591 37442591 37482597 37482597 Splice_Site SNP G T TCGA-AB-2890 7 69 NM_052997.2 e13+1 0 0 0 0 Novel: Amino Acid -> Known AA = L1017R (1) Q171E (1) T608T (1) P818P (1) D270E (1) I327N (1) C285S (1) I327I (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0308 0 0.0213 NA NA NA 83 12 12.63 91 20 18.02 0 0 0 ANKRD30A 7 0 0.005 10 37442591 37442591 37482597 37482597 Splice_Site SNP G T TCGA-AB-2911 7 51 NM_052997.2 e13+1 0 0 0 0 Novel: Amino Acid -> Known AA = L1017R (1) Q171E (1) T608T (1) P818P (1) D270E (1) I327N (1) C285S (1) I327I (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0308 0 0.0213 NA NA NA 23 4 14.81 42 14 25 0 0 0 ANKRD30A 7 0 0.005 10 37506640 37506641 37546646 37546647 Frame_Shift_Ins INS 0 AGAAG TCGA-AB-2826 5 64 NM_052997.2 p.K982fs NULL 0 0 0 Novel: Amino Acid -> Known AA = L1017R (1) Q171E (1) T608T (1) P818P (1) D270E (1) I327N (1) C285S (1) I327I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 19 8 40 50 11 21.57 NA NA NA ANKRD30A 7 0 0.005 10 37508579 37508580 37548585 37548586 Frame_Shift_Del DEL TG 0 TCGA-AB-2864 5 53 NM_052997.2 p.E1258fs NULL 0 0 0 Novel: Amino Acid -> Known AA = L1017R (1) Q171E (1) T608T (1) P818P (1) D270E (1) I327N (1) C285S (1) I327I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 56 24 30 98 32 24.62 NA NA NA ANKRD35 1 0 0 1 145561836 145561837 144273193 144273194 Frame_Shift_Ins INS 0 G TCGA-AB-2847 6 53 NM_144698.3 p.A508fs NULL 0 0 0 Novel: Amino Acid -> Known AA = P273R (1) E655V (1) E914K (1) K913I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 227 79 34.35 513 182 34.73 0 0 0 ANKRD5 1 0 0 20 10035126 10035126 9983126 9983126 Frame_Shift_Del DEL T 0 TCGA-AB-2963 5 56 NM_022096.4 p.Y685fs NULL 0 0 0 Novel: Amino Acid -> Known AA = V518E (1) K694N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 26 11 29.73 30 13 30.23 5 0 0 ANO4 1 0 0 12 101490361 101490364 100014492 100014495 Frame_Shift_Del DEL ATGT 0 TCGA-AB-2931 9 75 NM_178826.3 p.M561fs NULL 0 0 0 Novel: Amino Acid -> Known AA = G452R (1) G581R (1) Y736H (1) T573I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 97 19 16.38 84 31 26.96 0 0 0 ANXA13 1 0 0 8 124710695 124710696 124779876 124779877 Frame_Shift_Ins INS 0 T TCGA-AB-2998 3 68 NM_001003954.1 p.A139fs "superfamily_Annexin,HMMPfam_Annexin" 0 0 0 Novel: Amino Acid -> Known AA = A76V (1) D305G (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 12 5 38.46 14 5 35.71 0 0 0 AP4B1 1 0 0 1 114441377 114441378 114242900 114242901 Frame_Shift_Del DEL TG 0 TCGA-AB-3006 10 61 NM_006594.2 p.T387fs "HMMPfam_Adaptin_N,superfamily_ARM-type_fold" 0 0 0 Novel: Amino Acid -> Known AA = V156G (1) R512R (1) R290H (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 39 25 39.06 34 20 37.04 7 0 0 APEH 1 0 0 3 49712654 49712654 49687658 49687658 Nonsense_Mutation SNP C T TCGA-AB-2835 7 48 NM_001640.3 p.R62* superfamily_Peptidase_S9A_N 0 0 0 Novel: Amino Acid -> Known AA = Y67* (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 9 14 60.87 14 8 36.36 40 2 4.76 APOBEC3H 1 0 0 22 39497402 39497403 37827348 37827349 Frame_Shift_Ins INS 0 G TCGA-AB-2926 9 57 NM_181773.3 p.I106fs "HMMPfam_APOBEC_N,superfamily_Cytidine deaminase-like" 0 0 0 Novel: Amino Acid -> Known AA = P84L (1) H99H (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 69 21 29.17 99 48 46.15 NA NA NA ARFGEF1 1 0 0 8 68163686 68163686 68326240 68326240 Splice_Site SNP C T TCGA-AB-2862 5 33 NM_006421.3 e19-1 0 0 0 0 Novel: Amino Acid -> Known AA = E294D (1) E1374D (1) L156R (1) Q591Q (1) V1305I (1) G316E (1) Q1001H (1) I1572V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0 0 0.0005 4 8 66.67 41 27 39.71 NA NA NA ARGFX 1 0 0 3 121295729 121295729 122778419 122778419 Nonsense_Mutation SNP C T TCGA-AB-2977 4 71 NM_001012659.1 p.R68* superfamily_Homeodomain_like rs140537962 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = W191* (1) K134N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0.01 0.002 0.01 11 8 42.11 9 10 52.63 0 0 0 ARHGAP15 1 0 0 2 143986196 143986196 143702666 143702666 Frame_Shift_Del DEL G 0 TCGA-AB-2942 4 67 NM_018460.3 p.E115fs "HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729" 0 0 0 Novel: Amino Acid -> Known AA = V162L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 145 48 24.87 80 23 22.33 21 2 8.7 ARHGAP28 1 0 0 18 6898483 6898483 6888483 6888483 Nonsense_Mutation SNP G A TCGA-AB-2928 8 43 NM_030672.2 p.W534* NULL 0 0 0 Novel: Amino Acid -> Known AA = V479M (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 157 137 46.6 139 132 48.71 0 0 0 ARSA 2 0 0 22 51065593 51065593 49412459 49412459 Splice_Site SNP C T TCGA-AB-2991 3 40 NM_000487.4 e2+1 0 rs80338815 unknown "GENEREVIEWS," Novel: Amino Acid -> Known AA = P505P (1) A210A (1) Novel: Amino Acid 0.0432 0 0.0283 NA NA NA 5 5 50 10 9 47.37 20 10 33.33 ARSA 2 0 0 22 51065593 51065593 49412459 49412459 Splice_Site SNP C T TCGA-AB-3009 4 23 NM_000487.4 e2+1 0 rs80338815 unknown "GENEREVIEWS," Novel: Amino Acid -> Known AA = P505P (1) A210A (1) Novel: Amino Acid 0.0432 0 0.0283 NA NA NA 9 5 35.71 10 7 41.18 8 0 0 ASAP1 1 0 0 8 131129163 131129166 131198345 131198348 Frame_Shift_Del DEL CAAA 0 TCGA-AB-2937 4 35 NM_018482.2 p.C652fs "HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK" 0 0 0 Novel: Amino Acid -> Known AA = G937G (1) L998L (1) G799G (1) D720G (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 163 58 26.24 223 77 25.67 7 0 0 ASCC3 1 0 0 6 101037936 101037936 101144657 101144657 Splice_Site SNP C T TCGA-AB-2967 4 58 NM_006828.2 e34-1 0 0 0 0 Novel: Amino Acid -> Known AA = ? (1) E1968G (1) A348V (1) I2118V (1) I1616V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 11 14 56 15 14 48.28 4 8 66.67 ASNSD1 1 0 0 2 190532607 190532607 190240852 190240852 Nonsense_Mutation SNP C T TCGA-AB-2813 7 78 NM_019048.2 p.R528* "HMMPfam_Asn_synthase,superfamily_Adenine nucleotide alpha hydrolases-like" 0 0 0 Novel: Amino Acid -> Known AA = P243H (1) G329C (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 143 107 42.8 140 144 50.53 13 8 38.1 ASPH 1 0 0 8 62559417 62559417 62721971 62721971 Nonsense_Mutation SNP G A TCGA-AB-2929 5 71 NM_004318.3 p.Q171* "HMMPfam_Asp-B-Hydro_N,superfamily_SSF48452" 0 0 0 Novel: Amino Acid -> Known AA = I294T (1) T252P (1) A377P (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0142 0.0268 0.0186 NA NA NA 549 484 46.72 472 419 46.87 22 5 18.52 ATG4C 1 0 0.005 1 63269511 63269511 63042099 63042099 Frame_Shift_Del DEL T 0 TCGA-AB-2877 9 60 NM_032852.2 p.A19fs NULL 0 0 0 Novel: Amino Acid -> Known AA = L438I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 76 34 30.91 81 41 33.61 6 4 40 ATG7 1 0 0 3 11468296 11468296 11443296 11443296 Nonsense_Mutation SNP C T TCGA-AB-2880 7 24 NM_006395.2 p.R659* superfamily_Activating enzymes of the ubiquitin-like proteins 0 0 0 Novel: Amino Acid -> Known AA = ? (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 26 16 38.1 35 26 42.62 14 16 53.33 ATIC 2 X 0 2 216177330 216177331 215885575 215885576 Frame_Shift_Ins INS 0 G TCGA-AB-2916 6 49 NM_004044.6 p.A43fs "HMMPfam_MGS,superfamily_SSF52335" 0 0 0 Novel: Amino Acid -> Known AA = L384F (1) S34F (1) Novel: Amino Acid NA NA NA NA NA NA 41 13 30.95 40 13 31.71 7 0 0 ATIC 2 X 0 2 216213961 216213962 215922206 215922207 Frame_Shift_Del DEL AG 0 TCGA-AB-2930 6 62 NM_004044.6 p.R550fs superfamily_AICARFT_IMPCHas_formly 0 0 0 Novel: Amino Acid -> Known AA = L384F (1) S34F (1) Novel: Amino Acid NA NA NA NA NA NA 293 102 25.25 285 116 28.5 125 39 23.35 ATM 1 X 0 11 108202673 108202676 107707883 107707886 Frame_Shift_Del DEL CAAA 0 TCGA-AB-2875 5 43 NM_000051.3 p.N2567fs superfamily_ARM repeat 0 0 0 Novel: Amino Acid -> Known AA = L2445P (1) I1237fs* (1) *0? (1) P2699R (1) R2453P (1) Y2627fs* (1) S707fs* (1) F2799fs* (1) F2732L (1) L2722R (1) H996Q (1) D1853N (9) L1322P (1) L1794L (2) L3017P (1) Q2442P (3) K902fs* (1) I2356F (1) R1304fs* (1) D1682H (1) V1941L (2) Y2817* (1) L2450fs* (1) Y2954C (1) S151fs* (1) E1991D (1) A1945T (1) F1463L (1) K2418-2419R (1) ?_?ins? (2) S2394L (1) Q163* (1) S978P (1) R2443* (1) P1054R (1) A2420P (1) E2423K (1) S1905L (1) I1332fs* (2) D2708N (1) D1682Y (2) W393* (1) S2546-2548I (1) H2872Q (1) S2408L (1) Q747H (1) P2842R (1) E848Q (2) R23Q (1) R2263S (1) V245A (1) I2076S (1) R2400fs* (1) S1770* (1) Q2414* (1) A2622V (1) N750K (1) A2274T (1) I1407S (1) K1994E (1) E2423G (1) ? (10) S207C (1) S2375I (1) M855fs* (1) E1612-1620Q (1) L1764fs* (1) L2427R (1) R337S (2) R2832C (1) Q2593* (1) D2725V (2) P1829fs* (1) E2052* (1) T935T (1) L1322I (1) K2717M (1) E522fs* (2) A2893fs* (1) P604S (4) L2417P (1) ?fs (1) I1681V (2) R1086L (1) A3006V (1) R2713K (1) F570S (1) R2912K (1) V410A (2) T2947S (2) M1L (1) D126E (1) G138R (1) K3018N (1) A2631fs* (1) L2890V (2) C693-700Q (1) Y332C (1) N1801Y (1) R2443Q (3) Y1475C (1) A350T (1) D1853V (1) G2925V (1) E770* (1) S2859F (1) K1454N (1) G2867E (2) L1472F (1) I2055fs* (1) R2273fs* (1) T1953R (1) Y1392fs* (1) W1221* (1) T1735fs* (1) A3006P (1) G558* (1) I2888T (1) Q162* (1) L1708fs* (1) L1910H (1) K2810del (1) R3008C (4) W2845* (1) N1739T (1) Y1961C (1) S707P (2) W308* (1) S853* (1) G2695A (2) D1208H (1) Q1361* (1) T1743I (1) M2805fs* (1) I352T (1) W57* (1) K2237fs* (1) L895fs* (1) C2349W (1) V1292-1331Q (1) Y2019S (1) T2396S (1) R337C (2) M1040V (1) F858L (3) I1407T (1) R2486G (1) F1463S (1) G3051V (1) T2438K (1) A1742P (2) C353fs* (2) T261fs* (1) E2164K (1) R337H (1) S1179F (1) D2725G (1) F168-170V (1) R2871-2872H (1) T2666A (2) F1209fs* (1) R3047* (3) G2023R (1) C540Y (1) M2616I (1) I1469M (1) Q1128R (1) M1916I (1) Q466* (1) A1309T (2) K2213fs* (1) L2004R (1) T2911del (1) L2945fs* (1) E26fs* (1) V2424G (1) L1939V (1) H1380Y (1) F1683fs* (1) R3008H (4) G2063E (1) G2925D (1) R717W (1) Novel: Amino Acid NA NA NA NA NA NA 188 54 22.31 119 40 25.16 19 0 0 ATP10B 2 0 0.01 5 160113099 160113099 160045677 160045677 Nonsense_Mutation SNP G A TCGA-AB-2931 9 75 NM_025153.2 p.R153* "HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A" rs186100669 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = N591fs* (1) S1073C (1) F1136I (1) D1223E (1) A711A (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.2115 0.0978 0.1755 0.0026 0.002 0.0014 26 40 60.61 32 25 43.86 0 0 0 ATP10B 2 0 0.01 5 160113099 160113099 160045677 160045677 Nonsense_Mutation SNP G A TCGA-AB-2877 9 60 NM_025153.2 p.R153* "HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A" rs186100669 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = N591fs* (1) S1073C (1) F1136I (1) D1223E (1) A711A (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.2115 0.0978 0.1755 0.0026 0.002 0.0014 35 29 45.31 54 26 32.5 0 0 0 ATP1A3 1 0 0 19 42485985 42485985 47177825 47177825 Splice_Site SNP T C TCGA-AB-2891 7 42 NM_152296.3 e10-2 0 0 0 0 Novel: Amino Acid -> Known AA = Q920H (1) G210G (1) Novel: Amino Acid NA NA NA NA NA NA 52 23 30.67 52 42 44.68 0 0 0 ATP1A4 1 0 0 1 160133990 160133990 158400614 158400614 Frame_Shift_Del DEL A 0 TCGA-AB-2937 4 35 NM_144699.3 p.M275fs "HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_Calcium ATPase transmembrane domain M" 0 0 0 Novel: Amino Acid -> Known AA = V720M (1) E192E (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 248 105 29.49 227 103 31.02 0 0 0 ATP6V0A2 1 0 0 12 124242472 124242472 122808425 122808425 Splice_Site SNP A G TCGA-AB-2966 3 57 NM_012463.3 e20-2 0 0 0 0 Novel: Amino Acid -> Known AA = H248H (1) R578K (1) Novel: Amino Acid NA NA NA NA NA NA 15 11 37.93 6 7 43.75 3 7 63.64 ATXN3L 2 0 0 X 13337978 13337978 13247899 13247899 Nonsense_Mutation SNP C A TCGA-AB-2915 9 73 NM_001135995.1 p.E26* HMMPfam_Josephin 0 0 0 Novel: Amino Acid -> Known AA = R237H (1) E312K (1) T146T (1) I181I (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.1424 0 0.0976 0 0 0 69 72 51.06 35 35 49.3 0 0 0 ATXN3L 2 0 0 X 13337978 13337978 13247899 13247899 Nonsense_Mutation SNP C A TCGA-AB-2866 9 67 NM_001135995.1 p.E26* HMMPfam_Josephin 0 0 0 Novel: Amino Acid -> Known AA = R237H (1) E312K (1) T146T (1) I181I (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.1424 0 0.0976 0 0 0 3 92 96.84 0 72 100 0 0 0 AVPR2 1 0 0 X 153172126 153172126 152825320 152825320 Nonsense_Mutation SNP C T TCGA-AB-2861 5 76 NM_000054.4 p.Q354* superfamily_Family A G protein-coupled receptor-like 0 0 0 Novel: Amino Acid -> Known AA = R247H (1) Novel: Amino Acid NA NA NA 0 0 0 1 73 98.65 1 60 98.36 0 13 100 B3GNTL1 1 0 0 17 81006448 81006448 78599737 78599737 Splice_Site SNP T C TCGA-AB-2818 11 62 NM_001009905.1 e3-2 0 0 0 0 Novel: Amino Acid -> Known AA = Q42Q (1) G302V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 8 9 52.94 11 10 47.62 16 13 44.83 BAG5 1 0 0 14 104028296 104028296 103098049 103098049 Nonsense_Mutation SNP G A TCGA-AB-2863 4 63 NM_001015049.1 p.Q17* NULL 0 0 0 Novel: Amino Acid -> Known AA = E192D (1) V27G (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 14 6 30 14 11 44 NA NA NA BBX 1 0 0 3 107429391 107429391 108912081 108912081 Nonsense_Mutation SNP G A TCGA-AB-3000 6 25 NM_001142568.1 p.W28* NULL 0 0 0 Novel: Amino Acid -> Known AA = L63P (1) G737G (1) P705L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 12 14 53.85 15 9 37.5 21 17 44.74 BDKRB1 1 0 0 14 96730906 96730906 95800659 95800659 Nonsense_Mutation SNP T A TCGA-AB-2837 5 66 NM_000710.2 p.L296* "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" 0 0 0 Novel: Amino Acid -> Known AA = L226M (1) A250V (1) H199N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 67 74 52.48 61 49 44.14 0 0 0 BEST1 1 0 0 11 61730141 61730142 61486717 61486718 Frame_Shift_Del DEL GA 0 TCGA-AB-2933 4 58 NM_001139443.1 p.S446fs NULL 0 0 0 Novel: Amino Acid -> Known AA = V275V (1) Novel: Amino Acid NA NA NA NA NA NA 56 15 21.13 66 24 26.67 4 0 0 BLK 1 0 0 8 11420571 11420571 11457980 11457980 Nonsense_Mutation SNP G T TCGA-AB-2994 9 25 NM_001715.2 p.G422* "HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like)" 0 0 0 Novel: Amino Acid -> Known AA = A71T (1) P335S (1) Novel: Amino Acid NA NA NA NA NA NA 15 7 31.82 22 25 53.19 2 4 66.67 BMP10 1 0 0.005 2 69093668 69093668 68947172 68947172 Nonsense_Mutation SNP G A TCGA-AB-2914 8 22 NM_014482.1 p.R124* HMMPfam_TGFb_propeptide 0 0 0 Novel: Amino Acid -> Known AA = P396S (1) K174N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 20 17 45.95 44 30 40.54 0 0 0 BRD8 1 0 0 5 137481498 137481498 137509397 137509397 Nonsense_Mutation SNP C T TCGA-AB-2863 4 63 NM_139199.1 p.W1116* "HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain" 0 0 0 Novel: Amino Acid -> Known AA = I364F (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 24 22 47.83 31 37 54.41 NA NA NA BRPF3 1 0 0 6 36181755 36181755 36289733 36289733 Frame_Shift_Del DEL C 0 TCGA-AB-3000 6 25 NM_015695.2 p.I862fs NULL 0 0 0 Novel: Amino Acid -> Known AA = G997G (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 25 9 25.71 20 9 29.03 13 6 31.58 BTN2A1 3 0 0 6 26463700 26463701 26571679 26571680 Frame_Shift_Ins INS 0 T TCGA-AB-2943 3 70 NM_007049.2 p.I221fs superfamily_Immunoglobulin 0 0 0 Novel: Amino Acid -> Known AA = E87D (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 191 79 40.31 119 54 43.9 29 8 22.86 BTN2A1 3 0 0 6 26465567 26465568 26573546 26573547 Frame_Shift_Del DEL AA 0 TCGA-AB-2877 9 60 NM_007049.2 p.E291fs NULL 0 0 0 Novel: Amino Acid -> Known AA = E87D (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 296 115 27.51 350 164 31.42 15 8 32 BTN2A1 3 0 0 6 26468626 26468626 26576605 26576605 Nonsense_Mutation SNP C G TCGA-AB-2804 3 30 NM_007049.2 p.S478* "HMMPfam_SPRY,HMMSmart_SM00449" 0 0 0 Novel: Amino Acid -> Known AA = E87D (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0142 0.0268 0.0186 NA NA NA 357 279 43.59 298 211 41.45 NA NA NA BTNL9 4 0 0 5 180477254 180477254 180409860 180409860 Frame_Shift_Del DEL C 0 TCGA-AB-2837 5 66 NM_152547.4 p.L208fs superfamily_Immunoglobulin 0 0 0 Novel: Amino Acid -> Known AA = P98P (1) A457V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 96 53 34.87 62 22 25.58 0 0 0 BTNL9 4 0 0 5 180477254 180477254 180409860 180409860 Frame_Shift_Del DEL C 0 TCGA-AB-2964 4 57 NM_152547.4 p.L208fs superfamily_Immunoglobulin 0 0 0 Novel: Amino Acid -> Known AA = P98P (1) A457V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 22 12 33.33 28 10 25 NA NA NA BTNL9 4 0 0 5 180477254 180477254 180409860 180409860 Frame_Shift_Del DEL C 0 TCGA-AB-2835 7 48 NM_152547.4 p.L208fs superfamily_Immunoglobulin 0 0 0 Novel: Amino Acid -> Known AA = P98P (1) A457V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 114 57 32.39 30 19 38.78 1 1 50 BTNL9 4 0 0 5 180483016 180483016 180415622 180415622 Splice_Site SNP G A TCGA-AB-2890 7 69 NM_152547.4 e8+1 0 0 0 0 Novel: Amino Acid -> Known AA = P98P (1) A457V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 80 94 53.71 38 28 42.42 0 0 0 C5AR1 1 0 0 19 47823389 47823389 52515229 52515229 Frame_Shift_Del DEL A 0 TCGA-AB-2877 9 60 NM_001736.3 p.N119fs "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" 0 0 0 Novel: Amino Acid -> Known AA = T29I (1) L323F (1) V190M (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 142 58 28.86 92 43 31.85 0 0 0 C8A 1 0 0 1 57351719 57351719 57124307 57124307 Nonsense_Mutation SNP C A TCGA-AB-2996 6 75 NM_000562.2 p.Y325* "HMMPfam_MACPF,HMMSmart_MACPF" 0 0 0 Novel: Amino Acid -> Known AA = R484H (1) R59Q (1) Novel: Amino Acid NA NA NA NA NA NA 12 11 47.83 22 25 53.19 0 0 0 CALCOCO1 1 0 0 12 54118432 54118432 52404699 52404699 Nonsense_Mutation SNP G A TCGA-AB-2871 10 51 NM_020898.2 p.Q86* HMMPfam_CALCOCO1 0 0 0 Novel: Amino Acid -> Known AA = N27S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 44 51 53.12 29 29 50 50 25 33.33 CAPN3 1 0 0 15 42702805 42702806 40490097 40490098 Frame_Shift_Del DEL AC 0 TCGA-AB-3006 10 61 NM_000070.2 p.T736fs "HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand" 0 0 0 Novel: Amino Acid -> Known AA = D492E (1) Novel: Amino Acid NA NA NA NA NA NA 25 8 24.24 29 11 27.5 1 0 0 CAPS2 2 0 0 12 75687045 75687046 73973312 73973313 Frame_Shift_Ins INS 0 TATTTGAT TCGA-AB-2838 4 67 NM_032606.3 p.A401fs NULL 0 0 0 Novel: Amino Acid -> Known AA = K296N (1) S152I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 72 14 18.42 131 14 10.37 NA NA NA CAPS2 2 0 0 12 75687045 75687046 73973312 73973313 Frame_Shift_Ins INS 0 TATTTGAT TCGA-AB-2939 9 72 NM_032606.3 p.A401fs NULL 0 0 0 Novel: Amino Acid -> Known AA = K296N (1) S152I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 62 15 23.81 69 11 15.49 NA NA NA CARD14 1 0 0 17 78172484 78172484 75787079 75787079 Nonsense_Mutation SNP C T TCGA-AB-2812 12 25 NM_052819.1 p.R412* NULL 0 0 0 Novel: Amino Acid -> Known AA = I586I (1) I773I (1) S457L (1) K930K (1) S463S (1) Novel: Amino Acid - OMIM Gene Name Not Found 0 0.0535 0.0186 0 0 0.0005 73 69 48.59 47 44 47.83 0 0 0 CASP14 1 0 0 19 15166026 15166027 15027026 15027027 Frame_Shift_Del DEL AC 0 TCGA-AB-2905 6 48 NM_012114.1 p.D154fs "HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like" 0 0 0 Novel: Amino Acid -> Known AA = F195Y (1) ? (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 23 11 30.56 50 17 25 NA NA NA CCBE1 1 0 0.005 18 57115306 57115307 55266286 55266287 Frame_Shift_Ins INS 0 A TCGA-AB-2939 9 72 NM_133459.3 p.L229fs NULL 0 0 0 Novel: Amino Acid -> Known AA = P263T (1) Novel: Amino Acid NA NA NA NA NA NA 59 26 44.07 64 31 47.69 0 0 0 CCDC155 1 0 0 19 49899068 49899068 54590880 54590880 Frame_Shift_Del DEL G 0 TCGA-AB-2985 3 81 NM_144688.4 p.T127fs NULL 0 0 0 Novel: Amino Acid -> Known AA = A43V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 9 5 35.71 30 12 27.91 0 0 0 CCDC17 1 0 0 1 46086774 46086774 45859361 45859361 Frame_Shift_Del DEL G 0 TCGA-AB-2923 6 78 NM_001114938.1 p.S435fs NULL 0 0 0 Novel: Amino Acid -> Known AA = V519A (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 38 14 26.92 38 20 34.48 NA NA NA CCDC18 1 0 0 1 93672839 93672839 93445427 93445427 Nonsense_Mutation SNP C T TCGA-AB-3002 6 68 NM_206886.2 p.R483* NULL 0 0 0 Novel: Amino Acid -> Known AA = E1161* (1) S26L (1) K959E (1) A665T (1) I564S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 13 20 60.61 16 23 58.97 6 5 45.45 CCDC33 1 0 0.005 15 74560733 74560733 72347786 72347786 Nonsense_Mutation SNP C A TCGA-AB-2829 8 50 NM_025055.3 p.Y160* NULL rs145128251 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = L497L (1) ? (1) M179L (1) Novel: Amino Acid - OMIM Gene Name Not Found 0 0.2744 0.0897 0 0.01 0.0014 183 254 57.99 125 115 47.92 NA NA NA CCDC37 1 0 0 3 126114892 126114895 127597582 127597585 Frame_Shift_Del DEL AGTA 0 TCGA-AB-2872 6 42 NM_182628.2 p.K17fs NULL 0 0 0 Novel: Amino Acid -> Known AA = A565V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 59 25 29.76 129 42 24.42 0 0 0 CCDC39 1 0 0 3 180378423 180378423 181861117 181861117 Frame_Shift_Del DEL C 0 TCGA-AB-2929 5 71 NM_181426.1 p.A151fs NULL 0 0 0 Novel: Amino Acid -> Known AA = E740Q (1) M318T (1) K515N (1) E268* (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 26 9 25.71 40 13 24.53 0 0 0 CCDC40 2 0 0 17 78055352 78055352 75669947 75669947 Nonsense_Mutation SNP C T TCGA-AB-2966 3 57 NM_017950.2 p.Q524* NULL 0 0 0 Novel: Amino Acid -> Known AA = M404-408D (1) M920I (1) D839D (1) Novel: Amino Acid NA NA NA NA NA NA 5 12 70.59 4 8 66.67 0 0 0 CCDC40 2 0 0 17 78063562 78063562 75678157 75678157 Splice_Site SNP G T TCGA-AB-2922 4 83 NM_017950.2 e17-1 0 0 0 0 Novel: Amino Acid -> Known AA = M404-408D (1) M920I (1) D839D (1) Novel: Amino Acid 0.0302 0 0.0207 NA NA NA 71 55 43.65 73 39 34.51 NA NA NA CCDC45 1 0 0 17 62522259 62522260 59952721 59952722 Frame_Shift_Ins INS 0 A TCGA-AB-2957 4 31 NM_138363.1 p.Q366fs NULL 0 0 0 Novel: Amino Acid -> Known AA = D412H (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 239 104 42.8 125 56 44.09 NA NA NA CCDC60 1 0 0.005 12 119909960 119909960 118394343 118394343 Frame_Shift_Del DEL C 0 TCGA-AB-2959 4 71 NM_178499.3 p.L112fs NULL 0 0 0 Novel: Amino Acid -> Known AA = R131H (1) D201E (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 755 311 28.9 629 251 28.17 0 0 0 CCDC77 1 0 0 12 542445 542445 412706 412706 Nonsense_Mutation SNP C T TCGA-AB-2876 3 45 NM_032358.3 p.Q260* NULL 0 0 0 Novel: Amino Acid -> Known AA = D351D (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 173 157 47.58 235 190 44.71 13 7 35 CCNL2 1 0 0 1 1326173 1326173 1316036 1316036 Nonsense_Mutation SNP G T TCGA-AB-2980 3 50 NM_030937.4 p.C244* "HMMSmart_SM00385,superfamily_Cyclin-like" 0 0 0 Novel: Amino Acid -> Known AA = V45V (1) R495R (1) A8S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 15 26 61.9 18 10 34.48 64 44 40.74 CCR5 3 0 0 3 46414944 46414975 46389948 46389979 Frame_Shift_Del DEL ACAGTCAGTATCAATTCTGGAAGAATTTCCAG 0 TCGA-AB-2807 2 68 NM_000579.3 p.S185fs "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" 0 0 0 Novel: Amino Acid -> Known AA = P84P (1) Novel: Amino Acid NA NA NA NA NA NA 457 64 12.24 268 37 12.13 NA NA NA CCR5 3 0 0 3 46414944 46414975 46389948 46389979 Frame_Shift_Del DEL ACAGTCAGTATCAATTCTGGAAGAATTTCCAG 0 TCGA-AB-2840 4 74 NM_000579.3 p.S185fs "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" 0 0 0 Novel: Amino Acid -> Known AA = P84P (1) Novel: Amino Acid NA NA NA NA NA NA 221 91 29.17 274 92 25.07 NA NA NA CCR5 3 0 0 3 46414944 46414975 46389948 46389979 Frame_Shift_Del DEL ACAGTCAGTATCAATTCTGGAAGAATTTCCAG 0 TCGA-AB-2927 8 88 NM_000579.3 p.S185fs "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" 0 0 0 Novel: Amino Acid -> Known AA = P84P (1) Novel: Amino Acid NA NA NA NA NA NA 311 51 14.09 353 46 11.5 NA NA NA CD36 2 0 0 7 80293813 80293814 80131749 80131750 Frame_Shift_Ins INS 0 GTAA TCGA-AB-2872 6 42 NM_000072.3 p.N235fs HMMPfam_CD36 0 0 0 Novel: Amino Acid -> Known AA = A458A (1) Novel: Amino Acid NA NA NA 0 0.04 0.01 176 59 32.6 137 39 27.86 9 0 0 CD36 2 0 0 7 80293813 80293814 80131749 80131750 Frame_Shift_Ins INS 0 GTAA TCGA-AB-2901 10 27 NM_000072.3 p.N235fs HMMPfam_CD36 0 0 0 Novel: Amino Acid -> Known AA = A458A (1) Novel: Amino Acid NA NA NA 0 0.04 0.01 139 43 29.86 136 45 32.85 29 0 0 CD44 1 0 0 11 35229753 35229753 35186329 35186329 Nonsense_Mutation SNP C T TCGA-AB-2950 4 34 NM_000610.3 p.Q506* NULL 0 0 0 Novel: Amino Acid -> Known AA = Q339Q (1) Novel: Amino Acid NA NA NA NA NA NA 155 114 42.38 137 85 38.29 14 10 41.67 CDAN1 1 0 0 15 43028095 43028095 40815387 40815387 Nonsense_Mutation SNP G A TCGA-AB-2956 5 61 NM_138477.2 p.R251* NULL 0 0 0 Novel: Amino Acid -> Known AA = P1128S (1) E1163Q (1) Novel: Amino Acid NA NA NA NA NA NA 80 69 45.7 89 85 48.57 14 7 33.33 CDH26 1 0 0 20 58571642 58571642 58005037 58005037 Nonsense_Mutation SNP G A TCGA-AB-2887 2 60 NM_021810.4 p.W6* NULL 0 0 0 Novel: Amino Acid -> Known AA = L527V (1) S445S (1) G583E (1) P705L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 168 149 47 135 117 46.43 0 0 0 CDKL3 1 0 0 5 133686119 133686119 133714018 133714018 Splice_Site SNP C T TCGA-AB-3009 4 23 NM_001113575.1 e3-1 0 0 0 0 Novel: Amino Acid -> Known AA = E389* (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 12 6 33.33 14 14 50 0 0 0 CEACAM21 1 0 0 19 42083779 42083779 46775619 46775619 Nonsense_Mutation SNP C T TCGA-AB-2993 4 57 NM_001098506.1 p.R98* "HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin" 0 0 0 Novel: Amino Acid -> Known AA = L164M (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0143 0 0.0093 NA NA NA 12 15 55.56 9 13 59.09 1 1 50 CEBPZ 1 0 0 2 37439513 37439514 37293017 37293018 Frame_Shift_Del DEL AC 0 TCGA-AB-2875 5 43 NM_005760.2 p.C856fs NULL 0 0 0 Novel: Amino Acid -> Known AA = Q264K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 417 171 28.69 283 103 26.48 13 4 23.53 CELA2B 1 0 0 1 15812542 15812542 15685129 15685129 Splice_Site SNP G A TCGA-AB-2941 4 73 NM_015849.2 e6+1 0 0 0 0 Novel: Amino Acid -> Known AA = H56Q (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0 0 0.0005 28 61 68.54 48 42 46.67 0 1 100 CEP110 1 X 0 9 123936017 123936017 122975838 122975838 Splice_Site SNP T C TCGA-AB-2972 4 82 NM_007018.4 e40+2 0 0 0 0 Novel: Amino Acid -> Known AA = A480A (1) D644N (1) Q482P (1) L2042L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 18 15 45.45 28 30 51.72 3 31 91.18 CEP152 1 0 0 15 49083574 49083574 46870866 46870866 Splice_Site SNP C G TCGA-AB-2833 7 77 NM_014985.2 e7-1 0 0 0 0 Novel: Amino Acid -> Known AA = S1284R (1) V616L (1) Novel: Amino Acid 0.0153 0 0.0106 NA NA NA 27 33 55 12 11 45.83 1 0 0 CEP164 2 0 0 11 117252486 117252487 116757696 116757697 Frame_Shift_Ins INS 0 C TCGA-AB-2865 6 75 NM_014956.4 p.P494fs NULL 0 0 0 Novel: Amino Acid -> Known AA = P143S (1) H1452P (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 15 2 13.33 11 2 18.18 1 0 0 CEP164 2 0 0 11 117263344 117263344 116768554 116768554 Splice_Site SNP G A TCGA-AB-2829 8 50 NM_014956.4 e17+1 0 0 0 0 Novel: Amino Acid -> Known AA = P143S (1) H1452P (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 124 271 68.43 277 279 50.18 NA NA NA CEP250 1 0 0 20 34060559 34060559 33523973 33523973 Nonsense_Mutation SNP T A TCGA-AB-2917 4 41 NM_007186.3 p.L371* NULL 0 0 0 Novel: Amino Acid -> Known AA = T796I (1) T2299T (1) E47K (1) E1887G (1) S1187P (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 37 32 46.38 115 86 42.79 NA NA NA CEP290 1 0 0.005 12 88471040 88471040 86995171 86995171 Nonsense_Mutation SNP C A TCGA-AB-2857 4 54 NM_025114.3 p.G1890* NULL rs137852832 unknown "OMIM-CURATED-RECORDS," Novel: Amino Acid -> Known AA = A772S (1) N1677N (1) D1974D (1) L2160S (1) I1109I (1) S1596I (1) A1922G (1) Match: Amino Acid 0.0153 0 0.0106 NA NA NA 34 22 39.29 21 26 55.32 8 11 57.89 CEP78 1 0 0 9 80881357 80881357 80071177 80071177 Splice_Site SNP G C TCGA-AB-2851 5 66 NM_001098802.1 e16-1 0 rs146563928 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = L613L (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.2896 0.0335 0.2096 0.0013 0 0.0009 37 44 53.66 43 37 46.25 0 0 0 CES7 1 0 0 16 55903590 55903593 54461091 54461094 Frame_Shift_Del DEL GGGC 0 TCGA-AB-2804 3 30 NM_001143685.1 p.A161fs "HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases" 0 0 0 Novel: Amino Acid -> Known AA = L271M (1) V52A (1) S457F (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 47 11 18.64 36 9 19.57 NA NA NA CGN 1 0 0.005 1 151492666 151492666 149759290 149759290 Nonsense_Mutation SNP C T TCGA-AB-3001 3 31 NM_020770.2 p.R300* NULL 0 0 0 Novel: Amino Acid -> Known AA = K453T (1) E1137K (1) E1051E (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 7 16 69.57 16 11 40.74 0 1 100 CHEK2 1 X 0 22 29091857 29091857 27421857 27421857 Frame_Shift_Del DEL G 0 TCGA-AB-2814 4 39 NM_001005735.1 p.T410fs "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase" 0 0 0 Novel: Amino Acid -> Known AA = A392A (6) P536L (4) R346H (1) S372S (1) K373E (1) T383T (5) Novel: Amino Acid NA NA NA NA NA NA 158 68 30.09 117 56 32.18 5 0 0 CHMP2B 1 0 0 3 87302886 87302886 87385576 87385576 Nonsense_Mutation SNP C T TCGA-AB-2840 4 74 NM_014043.3 p.R186* HMMPfam_Snf7 rs63751048 by-cluster "GENEREVIEWS,VIB_MOLGEN_ADFTDMDB," Novel: Amino Acid -> Known AA = Q64Q (1) Novel: Amino Acid NA NA NA NA NA NA 30 26 46.43 56 38 40 7 0 0 CHMP4A 1 0 0 14 24682614 24682614 23752454 23752454 Splice_Site SNP C G TCGA-AB-2899 7 76 NM_014169.2 e1+1 0 rs76057705 unknown "SEATTLESEQ," Novel: Amino Acid -> Known AA = Y160S (1) E254K (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0427 0 0.0279 0 0 NA 42 35 45.45 23 16 41.03 7 4 36.36 CHRNA1 1 0 0 2 175629111 175629111 175337357 175337357 Frame_Shift_Del DEL C 0 TCGA-AB-2857 4 54 NM_001039523.2 p.W4fs NULL 0 0 0 Novel: Amino Acid -> Known AA = T178I (1) T162T (1) I246I (1) Novel: Amino Acid NA NA NA NA NA NA 31 9 22.5 46 9 16.36 0 0 0 CIITA 2 X 0 16 10989286 10989286 10896787 10896787 Splice_Site SNP G A TCGA-AB-2892 4 42 NM_000246.3 e2+1 0 0 0 0 Novel: Amino Acid -> Known AA = L667L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 89 69 43.67 81 96 53.93 10 97 90.65 CIITA 2 X 0 16 10996042 10996042 10903543 10903543 Splice_Site SNP G A TCGA-AB-2903 8 76 NM_000246.3 e7+1 0 0 0 0 Novel: Amino Acid -> Known AA = L667L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 42 27 39.13 104 105 50.24 2 4 66.67 CLCA4 2 0 0 1 87038389 87038389 86810977 86810977 Nonsense_Mutation SNP C T TCGA-AB-2944 4 48 NM_012128.3 p.Q485* NULL rs145223695 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = S421T (1) N251N (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0714 0.0273 0.0562 0.0013 0 0.0005 57 58 50.43 86 99 53.51 0 0 0 CLCA4 2 0 0 1 87045036 87045036 86817624 86817624 Splice_Site SNP G A TCGA-AB-3000 6 25 NM_012128.3 e13-1 0 0 0 0 Novel: Amino Acid -> Known AA = S421T (1) N251N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 20 17 45.95 22 8 26.67 0 0 0 CLCNKA 1 0 0 1 16358742 16358742 16231329 16231329 Nonsense_Mutation SNP C T TCGA-AB-2874 4 59 NM_004070.3 p.Q601* "HMMPfam_CBS,HMMSmart_CBS,superfamily_SSF54631" 0 0 0 Novel: Amino Acid -> Known AA = R663R (1) Novel: Amino Acid 0.0285 0 0.0186 NA NA NA 15 12 44.44 29 27 48.21 0 0 0 CLEC11A 2 0 0 19 51228571 51228572 55920383 55920384 Frame_Shift_Ins INS 0 GCCCA TCGA-AB-2927 8 88 NM_002975.2 p.S277fs "HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like" 0 0 0 Novel: Amino Acid -> Known AA = H281P (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 12 8 66.67 16 4 25 NA NA NA CLEC11A 2 0 0 19 51228571 51228572 55920383 55920384 Frame_Shift_Ins INS 0 GCCCA TCGA-AB-2828 5 55 NM_002975.2 p.S277fs "HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like" 0 0 0 Novel: Amino Acid -> Known AA = H281P (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 38 8 19.51 30 7 23.33 NA NA NA CLEC1A 1 0 0 12 10233835 10233835 10125102 10125102 Splice_Site SNP C A TCGA-AB-2935 7 66 NM_016511.2 e3+1 0 0 0 0 Novel: Amino Acid -> Known AA = S97C (1) R123H (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 79 94 54.34 97 81 45.51 0 0 0 CLEC4C 1 0 0 12 7883392 7883392 7774659 7774659 Splice_Site SNP C T TCGA-AB-2808 4 23 NM_130441.2 e5+1 0 0 0 0 Novel: Amino Acid -> Known AA = S49R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 119 100 45.66 5 8 61.54 0 0 0 CLIP1 1 0 0 12 122821260 122821261 121387213 121387214 Frame_Shift_Del DEL CT 0 TCGA-AB-2996 6 75 NM_002956.2 p.E818fs NULL 0 0 0 "Novel, but near match: Amino Acid -> Known AA for Gene = ? (1) M1202I (1) G816G (1)" Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 23 11 31.43 36 19 32.76 8 3 27.27 CLLU1 1 0 0 12 92818668 92818668 91342799 91342799 Frame_Shift_Del DEL T 0 TCGA-AB-2810 8 76 NM_001025233.1 p.S72fs NULL 0 0 0 Novel: Amino Acid -> Known AA = S53A (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 73 32 29.91 72 38 34.23 0 0 0 CMYA5 1 0 0.01 5 79041099 79041099 79076855 79076855 Nonsense_Mutation SNP A T TCGA-AB-2819 1 52 NM_153610.3 p.K3597* NULL rs185458523 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = G482E (1) K3055K (1) V1522G (1) T671R (1) K813R (1) E3089* (1) A1595A (1) L3295L (1) T2592I (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.2109 0 0.1442 0 0 0.0009 48 42 46.67 58 45 42.86 1 0 0 CNGB3 1 0 0 8 87656009 87656009 87725125 87725125 Frame_Shift_Del DEL G 0 TCGA-AB-3007 3 35 NM_019098.4 p.T383fs "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" 0 0 0 Novel: Amino Acid -> Known AA = A305T (1) R239H (1) T55P (1) Novel: Amino Acid NA NA NA NA NA NA 32 12 27.27 42 24 35.82 0 0 0 CNTN5 1 0 0.01 11 99690497 99690497 99195707 99195707 Splice_Site SNP G A TCGA-AB-3005 4 45 NM_014361.2 e2+1 0 0 0 0 Novel: Amino Acid -> Known AA = A628fs* (1) G195E (1) Q653Q (1) S63I (1) L539V (1) S94N (1) Q717* (1) V213V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 19 15 44.12 16 16 50 0 0 0 CNTNAP4 1 0 0.01 16 76523688 76523689 75081189 75081190 Frame_Shift_Ins INS 0 G TCGA-AB-2853 5 51 NM_138994.3 p.E591fs superfamily_Concanavalin A-like lectins/glucanases 0 0 0 Novel: Amino Acid -> Known AA = R374Q (1) A68T (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 45 21 44.68 54 16 29.63 0 0 0 COL13A1 1 0 0 10 71690185 71690185 71360191 71360191 Frame_Shift_Del DEL C 0 TCGA-AB-2940 4 35 NM_001130103.1 p.P510fs HMMPfam_Collagen 0 0 0 Novel: Amino Acid -> Known AA = K326K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 30 16 34.78 26 10 27.78 0 0 0 COL15A1 1 0 0 9 101751542 101751542 100791363 100791363 Splice_Site SNP T A TCGA-AB-2820 6 76 NM_001855.3 e5+2 0 0 0 0 Novel: Amino Acid -> Known AA = G434G (1) S37F (1) R1266M (1) K920Q (1) G342S (1) L1218L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 87 85 49.42 81 76 48.41 0 0 0 COL17A1 1 0 0 10 105795235 105795235 105785225 105785225 Nonsense_Mutation SNP G A TCGA-AB-2831 5 59 NM_000494.3 p.R1169* NULL 0 0 0 Novel: Amino Acid -> Known AA = A376T (1) G883G (1) G924C (1) V307fs* (1) D1095E (1) Novel: Amino Acid NA NA NA NA NA NA 22 16 42.11 8 9 52.94 NA NA NA COL24A1 1 0 0 1 86590968 86590968 86363556 86363556 Frame_Shift_Del DEL C 0 TCGA-AB-2843 10 77 NM_152890.5 p.V351fs NULL 0 0 0 Novel: Amino Acid -> Known AA = G600C (1) P676fs* (1) A1331T (1) R1093K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 155 71 31.14 248 97 27.87 15 0 0 COL6A6 3 0 0 3 130300740 130300740 131783430 131783430 Nonsense_Mutation SNP C T TCGA-AB-2841 5 51 NM_001102608.1 p.R1295* "HMMSmart_SM00327,superfamily_vWA-like" 0 0 0 Novel: Amino Acid -> Known AA = R408W (1) T932M (1) E1613-1615G (1) F84L (1) T1235T (1) A1867A (1) H413fs* (1) L700V (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.1062 0 0.0729 0.0013 0 0.0005 110 122 52.59 145 170 53.97 0 0 0 COL6A6 3 0 0 3 130311412 130311412 131794102 131794102 Nonsense_Mutation SNP G T TCGA-AB-2871 10 51 NM_001102608.1 p.G1434* NULL rs140872639 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = R408W (1) T932M (1) E1613-1615G (1) F84L (1) T1235T (1) A1867A (1) H413fs* (1) L700V (1) Novel: Amino Acid - OMIM Gene Name Not Found 0 0.3979 0.1248 0 0.01 0.0023 14 14 50 14 19 57.58 0 1 100 COL6A6 3 0 0 3 130361868 130361868 131844558 131844558 Splice_Site SNP G A TCGA-AB-2979 5 30 NM_001102608.1 e30+1 0 0 0 0 Novel: Amino Acid -> Known AA = R408W (1) T932M (1) E1613-1615G (1) F84L (1) T1235T (1) A1867A (1) H413fs* (1) L700V (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0151 0 0.0103 NA NA NA 7 7 50 13 22 62.86 0 0 0 CPZ 1 0 0 4 8620222 8620225 8671122 8671125 Frame_Shift_Del DEL TCAG 0 TCGA-AB-2885 3 71 NM_001014447.1 p.V525fs "HMMSmart_SM00631,superfamily_Carboxypeptidase regulatory domain" 0 0 0 Novel: Amino Acid -> Known AA = Y269C (1) K400del (1) V357L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 48 18 27.27 50 20 28.57 1 0 0 CR1 4 0 0.005 1 207787753 207787753 205854376 205854376 Nonsense_Mutation SNP C T TCGA-AB-2923 6 78 NM_000651.4 p.R2194* "HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain" rs55749440 unknown "DBMHC," Novel: Amino Acid -> Known AA = S1687C (1) I1804V (1) P896P (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0756 0 0.0518 NA NA NA 139 55 28.35 154 28 15.3 NA NA NA CR1 4 0 0.005 1 207787753 207787753 205854376 205854376 Nonsense_Mutation SNP C T TCGA-AB-2890 7 69 NM_000651.4 p.R2194* "HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain" rs55749440 unknown "DBMHC," Novel: Amino Acid -> Known AA = S1687C (1) I1804V (1) P896P (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0756 0 0.0518 NA NA NA 101 28 21.54 103 14 11.97 17 0 0 CR1 4 0 0.005 1 207790000 207790000 205856623 205856623 Nonsense_Mutation SNP G T TCGA-AB-2915 9 73 NM_000651.4 p.E2248* "HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain" 0 0 0 Novel: Amino Acid -> Known AA = S1687C (1) I1804V (1) P896P (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 138 151 52.25 135 113 45.56 66 37 35.92 CR1 4 0 0.005 1 207793411 207793411 205860034 205860034 Splice_Site SNP G A TCGA-AB-2888 4 57 NM_000651.4 e43+1 0 rs55998388 unknown "DBMHC," Novel: Amino Acid -> Known AA = S1687C (1) I1804V (1) P896P (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0578 0 0.0383 NA NA NA 81 85 51.2 49 78 61.42 4 117 96.69 CRELD1 1 0 0 3 9984777 9984777 9959777 9959777 Frame_Shift_Del DEL C 0 TCGA-AB-2896 4 21 NM_001031717.3 p.L279fs "HMMSmart_FU,superfamily_Grow_fac_recept" 0 0 0 Novel: Amino Acid -> Known AA = I342N (1) Novel: Amino Acid NA NA NA NA NA NA 165 69 29.24 110 59 34.3 14 4 22.22 CRNN 1 0 0 1 152383380 152383386 150650004 150650010 Frame_Shift_Del DEL GACGCAG 0 TCGA-AB-2943 3 70 NM_016190.2 p.L58fs "HMMPfam_efhand,superfamily_SSF47473" 0 0 0 "Novel, but near match: Amino Acid -> Known AA for Gene = E56K (1) Q280K (1)" Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 80 21 20.79 36 11 22.92 NA NA NA CSGALNACT1 1 0 0 8 19316142 19316142 19360422 19360422 Frame_Shift_Del DEL T 0 TCGA-AB-2812 12 25 NM_001130518.1 p.T216fs HMMPfam_CHGN 0 0 0 Novel: Amino Acid -> Known AA = D219G (1) I395M (1) A401A (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 844 309 26.71 531 182 25.45 1 0 0 CSN3 1 0 0 4 71110577 71110578 71145166 71145167 Frame_Shift_Ins INS 0 CCTG TCGA-AB-2851 5 66 NM_005212.2 p.F17fs HMMPfam_Casein_kappa 0 0 0 Novel: Amino Acid -> Known AA = P52A (1) T60N (1) N61S (1) P121P (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 73 9 12.33 131 41 30.83 0 0 0 CTSG 1 0 0.005 14 25043683 25043683 24113523 24113523 Frame_Shift_Del DEL T 0 TCGA-AB-2806 4 46 NM_001911.2 p.N121fs "HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys" 0 0 0 Novel: Amino Acid -> Known AA = K246I (1) T140T (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 94 39 29.1 99 59 36.42 5 0 0 CUBN 2 0 0.005 10 16911802 16911803 16951808 16951809 Frame_Shift_Del DEL AG 0 TCGA-AB-2864 5 53 NM_001081.3 p.L3096fs "HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain" 0 0 0 Novel: Amino Acid -> Known AA = I3189V (1) N2467fs* (1) K510T (1) R1911T (1) C2092C (1) A2252V (1) D658N (1) S3124N (1) N1307Y (1) S1254C (1) A2914V (1) S3258G (1) R224C (1) T1841T (1) ? (1) T517T (1) H786Q (1) R1677G (1) Novel: Amino Acid NA NA NA NA NA NA 123 49 28.16 98 45 31.25 NA NA NA CUBN 2 0 0.005 10 17024489 17024489 17064495 17064495 Nonsense_Mutation SNP A T TCGA-AB-3002 6 68 NM_001081.3 p.C1563* "HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain" 0 0 0 Novel: Amino Acid -> Known AA = I3189V (1) N2467fs* (1) K510T (1) R1911T (1) C2092C (1) A2252V (1) D658N (1) S3124N (1) N1307Y (1) S1254C (1) A2914V (1) S3258G (1) R224C (1) T1841T (1) ? (1) T517T (1) H786Q (1) R1677G (1) Novel: Amino Acid NA NA NA NA NA NA 17 22 56.41 18 13 41.94 0 1 100 CYB5D2 1 0 0 17 4058151 4058152 4004900 4004901 Frame_Shift_Ins INS 0 G TCGA-AB-2935 7 66 NM_144611.3 p.S193fs NULL 0 0 0 Novel: Amino Acid -> Known AA = H236N (1) R7P (1) R7G (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 34 7 20 96 20 20.83 3 0 0 CYP27A1 1 0 0 2 219678911 219678911 219387155 219387155 Splice_Site SNP G A TCGA-AB-2912 4 63 NM_000784.3 e6+1 0 0 0 0 Novel: Amino Acid -> Known AA = P302S (1) Novel: Amino Acid NA NA NA NA NA NA 49 58 54.21 66 31 31.96 2 0 0 CYP2A6 1 0 0 19 41354190 41354191 46046030 46046031 Frame_Shift_Del DEL TT 0 TCGA-AB-2812 12 25 NM_000762.5 p.K196fs "HMMPfam_p450,superfamily_Cytochrome P450" 0 0 0 Novel: Amino Acid -> Known AA = L219L (1) M6I (1) Novel: Amino Acid NA NA NA NA NA NA 634 286 31.09 321 149 31.7 0 0 0 CYP4B1 2 0 0 1 47276857 47276857 47049444 47049444 Splice_Site SNP G T TCGA-AB-2885 3 71 NM_001099772.1 e3+1 0 0 0 0 Novel: Amino Acid -> Known AA = L289L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 136 67 33 114 46 28.75 0 0 0 CYP4B1 2 0 0 1 47276857 47276857 47049444 47049444 Splice_Site SNP G T TCGA-AB-3011 2 21 NM_001099772.1 e3+1 0 0 0 0 Novel: Amino Acid -> Known AA = L289L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 7 6 46.15 23 20 46.51 0 0 0 DACT1 1 0 0 14 59111974 59111974 58181727 58181727 Splice_Site SNP A C TCGA-AB-2931 9 75 NM_016651.5 e4-2 0 0 0 0 Novel: Amino Acid -> Known AA = V810F (1) P381L (1) D539N (1) S682L (1) G124C (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 50 48 48.98 18 20 52.63 0 1 100 DCP1B 2 0 0 12 2061584 2061584 1931845 1931845 Nonsense_Mutation SNP G A TCGA-AB-2914 8 22 NM_152640.3 p.Q508* NULL 0 0 0 Novel: Amino Acid -> Known AA = P98S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 13 11 45.83 36 15 29.41 11 1 8.33 DCP1B 2 0 0 12 2061725 2061725 1931986 1931986 Nonsense_Mutation SNP G A TCGA-AB-2928 8 43 NM_152640.3 p.Q461* NULL 0 0 0 Novel: Amino Acid -> Known AA = P98S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 90 79 46.47 122 100 44.64 30 13 30.23 DDX11 2 0 0.01 12 31255428 31255429 31146695 31146696 Frame_Shift_Ins INS 0 T TCGA-AB-2849 5 39 NM_152438.1 p.E781fs HMMSmart_SM00491 0 0 0 Novel: Amino Acid -> Known AA = V33G (3) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 100 37 37 94 36 38.3 10 0 0 DDX11 2 0 0.01 12 31256740 31256740 31148007 31148007 Splice_Site SNP G A TCGA-AB-2866 9 67 NM_152438.1 e26-1 0 0 0 0 Novel: Amino Acid -> Known AA = V33G (3) Novel: Amino Acid - OMIM Gene Name Not Found 0.0143 0 0.0093 NA NA NA 121 64 34.59 159 147 48.04 14 30 68.18 DDX43 1 0 0 6 74115451 74115451 74172172 74172172 Nonsense_Mutation SNP C T TCGA-AB-2952 4 60 NM_018665.2 p.R234* superfamily_SSF52540 0 0 0 Novel: Amino Acid -> Known AA = R583S (1) G80G (1) D396H (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 36 45 55.56 31 25 43.86 0 1 100 DDX53 1 0 0.005 X 23019375 23019375 22929296 22929296 Nonsense_Mutation SNP C T TCGA-AB-2895 3 41 NM_182699.2 p.R401* "HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540" 0 0 0 Novel: Amino Acid -> Known AA = N141T (1) I263I (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.018 0 0.0114 0 0 0 291 227 43.82 269 268 49.54 1 0 0 DENND1C 2 0 0 19 6468370 6468370 6419370 6419370 Nonsense_Mutation SNP C A TCGA-AB-2843 10 77 NM_024898.2 p.E556* NULL 0 0 0 Novel: Amino Acid -> Known AA = D371N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 85 117 57.92 78 51 39.53 52 28 35 DENND1C 2 0 0 19 6471308 6471308 6422308 6422308 Nonsense_Mutation SNP G A TCGA-AB-2959 4 71 NM_024898.2 p.R420* NULL 0 0 0 Novel: Amino Acid -> Known AA = D371N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 17 14 45.16 11 6 35.29 15 6 28.57 DENND5B 1 0 0 12 31540665 31540665 31431932 31431932 Nonsense_Mutation SNP G A TCGA-AB-2813 7 78 NM_144973.3 p.R1233* HMMSmart_SM00593 0 0 0 Novel: Amino Acid -> Known AA = G1200W (1) E753K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 29 35 53.85 33 28 45.9 1 1 50 DHCR7 3 0 0 11 71146886 71146886 70824534 70824534 Splice_Site SNP C G TCGA-AB-2813 7 78 NM_001360.2 e7-1 0 rs138659167 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = T135I (1) N161H (1) "Novel, but near match: Amino Acid" 0.6054 0.3243 0.5076 0.01 0 0.0046 2 5 71.43 7 2 22.22 2 2 50 DHCR7 3 0 0 11 71146886 71146886 70824534 70824534 Splice_Site SNP C G TCGA-AB-2836 4 35 NM_001360.2 e7-1 0 rs138659167 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = T135I (1) N161H (1) "Novel, but near match: Amino Acid" 0.6054 0.3243 0.5076 0.01 0 0.0046 14 25 62.5 8 13 61.9 2 4 66.67 DHCR7 3 0 0 11 71146886 71146886 70824534 70824534 Splice_Site SNP C G TCGA-AB-2912 4 63 NM_001360.2 e7-1 0 rs138659167 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = T135I (1) N161H (1) "Novel, but near match: Amino Acid" 0.6054 0.3243 0.5076 0.01 0 0.0046 5 6 54.55 9 15 62.5 3 0 0 DHX8 1 0 0 17 41571219 41571219 38926745 38926745 Nonsense_Mutation SNP C T TCGA-AB-2972 4 82 NM_004941.1 p.R393* NULL 0 0 0 Novel: Amino Acid -> Known AA = R186Q (1) L1006M (1) E361* (1) S456I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 23 23 50 20 26 56.52 29 6 17.14 DIAPH3 1 0 0 13 60453424 60453424 59351425 59351425 Frame_Shift_Del DEL T 0 TCGA-AB-2903 8 76 NM_001042517.1 p.Y849fs "HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain)" 0 0 0 Novel: Amino Acid -> Known AA = F997I (1) P940S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 92 49 34.03 143 63 30.43 2 0 0 DKK4 1 0 0 8 42233350 42233350 42352507 42352507 Splice_Site SNP T C TCGA-AB-2973 4 67 NM_014420.2 e2-2 0 0 0 0 Novel: Amino Acid -> Known AA = P198P (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0142 0 0.0093 NA NA NA 18 20 52.63 23 12 34.29 1 0 0 DLEC1 2 0 0 3 38153226 38153226 38128230 38128230 Nonsense_Mutation SNP C T TCGA-AB-2834 7 33 NM_007337.2 p.R1168* NULL 0 0 0 Novel: Amino Acid -> Known AA = R1099H (1) P351R (1) A865A (1) R884Q (1) R872C (1) S844S (1) S1345S (1) D215N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 20 16 44.44 27 12 30.77 0 2 100 DLEC1 2 0 0 3 38159501 38159501 38134505 38134505 Nonsense_Mutation SNP C T TCGA-AB-2988 3 67 NM_007337.2 p.Q1564* NULL 0 0 0 Novel: Amino Acid -> Known AA = R1099H (1) P351R (1) A865A (1) R884Q (1) R872C (1) S844S (1) S1345S (1) D215N (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0286 0.0269 0.028 NA NA NA 15 21 56.76 22 18 45 NA NA NA DMBT1 2 0 0 10 124357488 124357488 124347478 124347478 Splice_Site SNP A C TCGA-AB-2905 6 48 NM_007329.2 e25-2 0 0 0 0 Novel: Amino Acid -> Known AA = H1084H (1) P340P (1) G1083G (1) A1027V (1) D390D (1) D560D (1) D396D (1) Novel: Amino Acid - OMIM Gene Name Not Found 0 0.0317 0.0102 0 0.01 0.0014 11 12 52.17 24 12 33.33 NA NA NA DMBT1 2 0 0 10 124377607 124377607 124367597 124367597 Nonsense_Mutation SNP C T TCGA-AB-2825 9 31 NM_007329.2 p.Q1527* "HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like" 0 0 0 Novel: Amino Acid -> Known AA = H1084H (1) P340P (1) G1083G (1) A1027V (1) D390D (1) D560D (1) D396D (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 246 260 51.38 172 146 45.91 0 0 0 DMD 1 0 0.005 X 31697705 31697705 31607626 31607626 Splice_Site SNP T A TCGA-AB-2882 8 73 NM_004006.2 e53-2 0 0 0 0 Novel: Amino Acid -> Known AA = E407E (1) P1093P (1) R1106H (1) L1104I (1) S781C (1) R1106C (1) Novel: Amino Acid NA NA NA 0 0 0 44 8 15.38 209 0 0 NA NA NA DMGDH 2 0 0 5 78340265 78340265 78376021 78376021 Nonsense_Mutation SNP G A TCGA-AB-2988 3 67 NM_013391.2 p.R286* "HMMPfam_DAO,superfamily_FAD/NAD(P)-binding domain,superfamily_FAD-linked reductases C-terminal domain" 0 0 0 Novel: Amino Acid -> Known AA = D708H (1) E80G (1) L294Q (1) Novel: Amino Acid 0.0142 0 0.0093 0 0 NA 26 17 37.78 27 22 44.9 NA NA NA DMGDH 2 0 0 5 78351631 78351631 78387387 78387387 Splice_Site SNP A T TCGA-AB-2989 5 29 NM_013391.2 e3+2 0 0 0 0 Novel: Amino Acid -> Known AA = D708H (1) E80G (1) L294Q (1) Novel: Amino Acid NA NA NA NA NA NA 13 24 64.86 18 24 57.14 NA NA NA DNAH1 1 0 0 3 52409343 52409344 52384383 52384384 Frame_Shift_Ins INS 0 G TCGA-AB-2977 4 71 NM_015512.4 p.R2359fs "HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases" 0 0 0 Novel: Amino Acid -> Known AA = L2382V (1) R884Q (1) D1025Y (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 17 7 41.18 21 14 66.67 1 1 100 DNAH11 1 0 0.005 7 21723548 21723548 21690073 21690073 Frame_Shift_Del DEL T 0 TCGA-AB-2927 8 88 NM_003777.3 p.P1877fs superfamily_P-loop containing nucleoside triphosphate hydrolases 0 0 0 Novel: Amino Acid -> Known AA = L2860F (1) K3887Q (1) E3682G (1) G1900C (1) E1070E (1) K4003N (1) R1451W (1) A2472D (1) E1522* (1) A1456V (1) F445F (1) R3399H (1) Y3599H (1) C4462C (1) K2466N (1) Novel: Amino Acid NA NA NA NA NA NA 283 121 29.73 330 143 29.92 0 0 0 DNAH3 3 0 0.005 16 20948135 20948135 20855636 20855636 Nonsense_Mutation SNP G A TCGA-AB-2915 9 73 NM_017539.1 p.R3899* HMMPfam_Dynein_heavy 0 0 0 Novel: Amino Acid -> Known AA = M2246V (1) S1608F (1) I1074F (1) E4023Q (1) E972D (1) A1526T (1) C3478W (1) I484L (1) S3265F (1) E3502* (1) W1961C (1) A2773V (1) Y1393Y (1) Y3772Y (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 20 19 48.72 14 18 56.25 0 1 100 DNAH3 3 0 0.005 16 20975374 20975375 20882875 20882876 Frame_Shift_Del DEL TC 0 TCGA-AB-2897 9 50 NM_017539.1 p.K3278fs NULL 0 0 0 Novel: Amino Acid -> Known AA = M2246V (1) S1608F (1) I1074F (1) E4023Q (1) E972D (1) A1526T (1) C3478W (1) I484L (1) S3265F (1) E3502* (1) W1961C (1) A2773V (1) Y1393Y (1) Y3772Y (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 805 315 28 615 251 28.75 0 0 0 DNAH3 3 0 0.005 16 21078631 21078631 20986132 20986132 Nonsense_Mutation SNP A T TCGA-AB-2834 7 33 NM_017539.1 p.L1164* HMMPfam_DHC_N2 0 0 0 Novel: Amino Acid -> Known AA = M2246V (1) S1608F (1) I1074F (1) E4023Q (1) E972D (1) A1526T (1) C3478W (1) I484L (1) S3265F (1) E3502* (1) W1961C (1) A2773V (1) Y1393Y (1) Y3772Y (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 35 37 51.39 51 51 49.51 0 0 0 DNAH5 2 0 0.01 5 13701398 13701398 13754398 13754398 Nonsense_Mutation SNP G A TCGA-AB-2947 3 52 NM_001369.2 p.R4496* HMMPfam_Dynein_heavy 0 0 0 Novel: Amino Acid -> Known AA = S2616G (1) D4343N (1) V3245M (1) N3204H (1) C1453* (1) K1308N (1) K3500K (1) H1691N (1) R3197W (1) R3197Q (1) K4200T (1) ? (1) R2437H (1) A801T (1) A1977D (1) F3369L (1) L3284L (1) Novel: Amino Acid 0.0142 0 0.0093 0 0 0.0005 70 65 47.45 209 213 50.47 NA NA NA DNAH5 2 0 0.01 5 13794140 13794140 13847140 13847140 Nonsense_Mutation SNP G A TCGA-AB-2930 6 62 NM_001369.2 p.R2639* "HMMSmart_AAA,HMMPfam_AAA_5,superfamily_SSF52540" 0 0 0 Novel: Amino Acid -> Known AA = S2616G (1) D4343N (1) V3245M (1) N3204H (1) C1453* (1) K1308N (1) K3500K (1) H1691N (1) R3197W (1) R3197Q (1) K4200T (1) ? (1) R2437H (1) A801T (1) A1977D (1) F3369L (1) L3284L (1) Novel: Amino Acid 0 0.0268 0.0093 NA NA NA 56 64 53.33 32 38 54.29 0 0 0 DNAH7 1 0 0 2 196661362 196661362 196369607 196369607 Frame_Shift_Del DEL C 0 TCGA-AB-2993 4 57 NM_018897.2 p.V3485fs HMMPfam_Dynein_heavy 0 0 0 Novel: Amino Acid -> Known AA = C1861F (1) G2155G (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 29 14 32.56 27 11 28.95 0 0 0 DNAH8 1 0 0 6 38858436 38858436 38966414 38966414 Nonsense_Mutation SNP G T TCGA-AB-2875 5 43 NM_001371.2 p.G2611* superfamily_P-loop containing nucleoside triphosphate hydrolases 0 0 0 Novel: Amino Acid -> Known AA = N2222N (1) M910I (1) A2961G (1) K4454M (1) E821* (1) D758D (1) R3878S (1) A739T (1) P11P (1) R2960R (1) F2298S (1) R1085Q (1) A2251S (1) Q2843P (1) N2531I (1) T2226M (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 221 129 36.75 174 151 46.46 0 0 0 DNAJC21 1 0 0 5 34941289 34941289 34977046 34977046 Splice_Site SNP G A TCGA-AB-2995 2 63 NM_194283.3 e7+1 0 0 0 0 Novel: Amino Acid -> Known AA = D214N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 9 14 60.87 13 18 58.06 0 0 0 DNALI1 1 0 0 1 38022616 38022617 37795203 37795204 Frame_Shift_Del DEL TT 0 TCGA-AB-2843 10 77 NM_003462.3 p.L30fs NULL 0 0 0 Novel: Amino Acid -> Known AA = Y186C (1) I142M (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 333 129 27.92 339 146 30.04 0 0 0 DNTT 1 0 0 10 98078120 98078120 98068110 98068110 Frame_Shift_Del DEL C 0 TCGA-AB-2990 7 51 NM_004088.3 p.H73fs "HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain" 0 0 0 Novel: Amino Acid -> Known AA = A56S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 34 17 33.33 43 23 34.85 0 0 0 DPEP2 1 0 0 16 68025773 68025773 66583274 66583274 Nonsense_Mutation SNP G C TCGA-AB-2905 6 48 NM_022355.2 p.Y210* "HMMPfam_Peptidase_M19,superfamily_Metallo-dependent hydrolases" 0 0 0 Novel: Amino Acid -> Known AA = P480S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0 0 0.0005 18 12 40 24 21 46.67 NA NA NA DPH2 1 0 0 1 44437590 44437590 44210177 44210177 Nonsense_Mutation SNP T G TCGA-AB-2930 6 62 NM_001384.4 p.L339* HMMPfam_Diphthamide_syn 0 0 0 Novel: Amino Acid -> Known AA = L388L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 170 116 40.56 66 67 50.38 44 19 30.16 DSC3 1 0 0 18 28577015 28577015 26831013 26831013 Splice_Site SNP C A TCGA-AB-2971 3 76 NM_001941.3 e15-1 0 0 0 0 Novel: Amino Acid -> Known AA = ? (1) S735L (1) Novel: Amino Acid NA NA NA NA NA NA 17 17 48.57 13 23 63.89 NA NA NA DST 1 0 0.01 6 56480857 56480858 56588816 56588817 Frame_Shift_Ins INS 0 G TCGA-AB-2826 5 64 NM_001723.5 p.V2470fs "HMMSmart_PLEC,superfamily_SSF75399" 0 0 0 Novel: Amino Acid -> Known AA = R689H (1) P190S (1) R69R (1) H1734N (1) L760M (1) A811T (1) T2134T (1) G1620D (1) ? (1) I108T (1) D696G (1) K597N (1) I549I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 91 43 44.79 134 59 42.75 0 0 0 DUOX2 1 0 0 15 45393426 45393429 43180718 43180721 Frame_Shift_Del DEL GAAC 0 TCGA-AB-2913 4 61 NM_014080.4 p.F966fs NULL 0 0 0 Novel: Amino Acid -> Known AA = L613L (1) Q71L (1) E748K (1) Novel: Amino Acid NA NA NA NA NA NA 10 4 28.57 10 6 37.5 0 0 0 DVL2 1 0 0 17 7137440 7137440 7078164 7078164 Nonsense_Mutation SNP G A TCGA-AB-2901 10 27 NM_004422.2 p.Q48* "HMMPfam_DIX,HMMSmart_SM00021" 0 0 0 Novel: Amino Acid -> Known AA = I282T (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0142 0 0.0093 NA NA NA 108 101 48.33 88 64 41.83 18 9 33.33 DYSF 2 0 0.015 2 71766369 71766369 71619877 71619877 Nonsense_Mutation SNP G T TCGA-AB-2990 7 51 NM_001130982.1 p.E526* "HMMSmart_C2,superfamily_C2_CaLB" 0 0 0 Novel: Amino Acid -> Known AA = I1325M (1) L1349V (1) W857L (1) R462C (1) I1582V (1) K855K (1) Novel: Amino Acid NA NA NA NA NA NA 29 8 21.62 17 9 34.62 7 1 12.5 DYSF 2 0 0.015 2 71816721 71816721 71670229 71670229 Splice_Site SNP A G TCGA-AB-2963 5 56 NM_001130987.1 e31-2 0 0 0 0 Novel: Amino Acid -> Known AA = I1325M (1) L1349V (1) W857L (1) R462C (1) I1582V (1) K855K (1) Novel: Amino Acid NA NA NA NA NA NA 14 8 36.36 10 13 56.52 2 10 66.67 DYTN 1 0 0 2 207570515 207570515 207278760 207278760 Nonsense_Mutation SNP G A TCGA-AB-2820 6 76 NM_001093730.1 p.R127* "HMMPfam_efhand_2,superfamily_SSF47473" 0 0 0 Novel: Amino Acid -> Known AA = A558V (1) Novel: Amino Acid - OMIM Gene Name Not Found 0 0.9981 0.3191 0.0013 0.0041 0.0014 63 45 41.67 61 54 46.96 0 0 0 EAPP 1 0 0 14 34993976 34993976 34063727 34063727 Nonsense_Mutation SNP G A TCGA-AB-2899 7 76 NM_018453.3 p.Q170* HMMPfam_Eapp_C 0 0 0 Novel: Amino Acid -> Known AA = R155T (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 271 308 53.1 158 176 52.69 29 8 21.62 ECHDC2 2 0 0 1 53370727 53370728 53143315 53143316 Frame_Shift_Ins INS 0 C TCGA-AB-2853 5 51 NM_018281.2 p.R133fs "HMMPfam_ECH,superfamily_SSF52096" 0 0 0 Novel: Amino Acid -> Known AA = I121V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 33 15 45.45 12 4 30.77 6 0 0 ECHDC2 2 0 0 1 53370727 53370728 53143315 53143316 Frame_Shift_Ins INS 0 C TCGA-AB-2842 7 64 NM_018281.2 p.R133fs "HMMPfam_ECH,superfamily_SSF52096" 0 0 0 Novel: Amino Acid -> Known AA = I121V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 148 74 49.33 127 51 40.16 3 0 0 EDA2R 1 0 0 X 65819442 65819442 65736167 65736167 Nonsense_Mutation SNP G A TCGA-AB-2837 5 66 NM_021783.2 p.Q260* NULL 0 0 0 Novel: Amino Acid -> Known AA = E7Q (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0 0 0 28 25 47.17 25 25 49.02 1 0 0 EEF2K 1 0 0 16 22262013 22262013 22169514 22169514 Splice_Site SNP G C TCGA-AB-2903 8 76 NM_013302.3 e4+1 0 0 0 0 Novel: Amino Acid -> Known AA = T291M (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0142 0 0.0093 NA NA NA 32 24 42.86 29 12 29.27 6 7 53.85 EFCAB5 5 0 0 17 28268857 28268857 25292983 25292983 Splice_Site SNP G A TCGA-AB-2936 5 60 NM_198529.3 e1+1 0 0 0 0 Novel: Amino Acid -> Known AA = ? (1) G1271G (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.5888 0.0328 0.4137 NA NA NA 16 21 56.76 20 18 47.37 0 1 100 EFCAB5 5 0 0 17 28268857 28268857 25292983 25292983 Splice_Site SNP G A TCGA-AB-2994 9 25 NM_198529.3 e1+1 0 0 0 0 Novel: Amino Acid -> Known AA = ? (1) G1271G (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.5888 0.0328 0.4137 NA NA NA 19 18 48.65 18 13 41.94 0 0 0 EFCAB5 5 0 0 17 28268857 28268857 25292983 25292983 Splice_Site SNP G A TCGA-AB-2996 6 75 NM_198529.3 e1+1 0 0 0 0 Novel: Amino Acid -> Known AA = ? (1) G1271G (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.5888 0.0328 0.4137 NA NA NA 12 17 58.62 16 18 52.94 1 0 0 EFCAB5 5 0 0 17 28380800 28380801 25404926 25404927 Frame_Shift_Del DEL AG 0 TCGA-AB-2886 3 25 NM_198529.3 p.E611fs superfamily_EF-hand 0 0 0 Novel: Amino Acid -> Known AA = ? (1) G1271G (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 1282 538 29.53 1188 454 27.63 NA NA NA EFCAB5 5 0 0 17 28380824 28380824 25404950 25404950 Nonsense_Mutation SNP C T TCGA-AB-2833 7 77 NM_198529.3 p.R618* superfamily_EF-hand 0 0 0 Novel: Amino Acid -> Known AA = ? (1) G1271G (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 617 559 47.45 489 569 53.73 0 0 0 EGF 1 0 0 4 110901126 110901126 111120575 111120575 Splice_Site SNP A G TCGA-AB-2955 4 56 NM_001963.4 e14-2 0 0 0 0 Novel: Amino Acid -> Known AA = P29S (1) Novel: Amino Acid NA NA NA NA NA NA 592 422 41.62 292 217 42.63 0 0 0 ELN 2 X 0.005 7 73469100 73469100 73107036 73107036 Splice_Site SNP G A TCGA-AB-2917 4 41 NM_000501.2 e19+1 0 0 0 0 Novel: Amino Acid -> Known AA = A461S (1) G384R (1) Q539Q (1) G157E (1) A418T (1) Novel: Amino Acid NA NA NA NA NA NA 17 24 58.54 39 17 30.36 NA NA NA ELN 2 X 0.005 7 73471968 73471968 73109904 73109904 Splice_Site SNP A G TCGA-AB-2900 13 70 NM_000501.2 e22-2 0 0 0 0 Novel: Amino Acid -> Known AA = A461S (1) G384R (1) Q539Q (1) G157E (1) A418T (1) Novel: Amino Acid NA NA NA NA NA NA 114 82 41.84 66 50 42.74 NA NA NA ELOVL3 1 0 0 10 103988866 103988866 103978856 103978856 Frame_Shift_Del DEL A 0 TCGA-AB-2893 4 45 NM_152310.1 p.R224fs HMMPfam_ELO 0 0 0 Novel: Amino Acid -> Known AA = G96R (1) H252N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 76 34 30.91 83 28 25.23 14 7 33.33 EML5 1 0 0 14 89171230 89171231 88240983 88240984 Frame_Shift_Ins INS 0 T TCGA-AB-2823 7 61 NM_183387.2 p.N675fs HMMPfam_HELP 0 0 0 Novel: Amino Acid -> Known AA = D957Y (1) E1166E (1) P268P (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 44 20 45.45 80 31 37.35 0 0 0 EMR1 1 0 0 19 6926517 6926517 6877517 6877517 Frame_Shift_Del DEL G 0 TCGA-AB-2891 7 42 NM_001974.3 p.M710fs "HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like" 0 0 0 Novel: Amino Acid -> Known AA = P721P (1) S867S (1) I533V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 665 272 28.87 739 307 28.96 0 0 0 ENPP2 1 0 0 8 120580420 120580420 120649601 120649601 Frame_Shift_Del DEL A 0 TCGA-AB-2892 4 42 NM_006209.3 p.F761fs "HMMPfam_Endonuclease_NS,HMMSmart_SM00477,superfamily_His-Me finger endonucleases" 0 0 0 Novel: Amino Acid -> Known AA = P840T (1) N854N (1) H486Q (1) V513I (1) K357K (1) R373H (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 229 86 26.63 225 101 30.33 1 0 0 ENPP3 1 0 0 6 132058571 132058574 132100264 132100267 Frame_Shift_Del DEL AAGT 0 TCGA-AB-2897 9 50 NM_005021.3 p.K723fs "HMMSmart_NUC,superfamily_SSF54060" 0 0 0 Novel: Amino Acid -> Known AA = L651L (1) ? (1) W250* (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 77 18 18.75 48 13 21.31 0 0 0 ENTHD1 1 0 0 22 40161342 40161343 38491288 38491289 Frame_Shift_Del DEL GA 0 TCGA-AB-2845 12 37 NM_152512.3 p.P369fs NULL 0 0 0 Novel: Amino Acid -> Known AA = N27N (1) R4K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0.01 0 0.01 85 36 28.12 169 75 29.88 0 0 0 ENTPD7 1 0 0 10 101458589 101458589 101448579 101448579 Frame_Shift_Del DEL G 0 TCGA-AB-3002 6 68 NM_020354.3 p.P438fs HMMPfam_GDA1_CD39 0 0 0 Novel: Amino Acid -> Known AA = N108K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 40 20 32.79 16 9 36 0 0 0 EPB41L2 1 0 0 6 131191250 131191251 131232943 131232944 Frame_Shift_Del DEL AG 0 TCGA-AB-2866 9 67 NM_001431.3 p.L687fs NULL 0 0 0 Novel: Amino Acid -> Known AA = P568S (1) T809I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 246 115 31.34 201 90 30.82 36 6 13.04 EPHA8 1 0 0.005 1 22927582 22927582 22800169 22800169 Splice_Site SNP G A TCGA-AB-2871 10 51 NM_020526.3 e15+1 0 0 0 0 Novel: Amino Acid -> Known AA = T219T (1) R179C (1) R198L (1) P860L (1) V97I (1) N123K (1) R367C (1) D787D (2) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 18 12 40 42 26 38.24 0 0 0 EPSTI1 1 0 0 13 43566136 43566137 42464136 42464137 Frame_Shift_Ins INS 0 G TCGA-AB-2967 4 58 NM_001002264.1 p.V55fs NULL 0 0 0 Novel: Amino Acid -> Known AA = L333L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 16 9 52.94 12 6 50 0 0 0 ERAP1 1 0 0 5 96121571 96121574 96147327 96147330 Frame_Shift_Del DEL CAGT 0 TCGA-AB-3002 6 68 NM_016442.3 p.T621fs NULL 0 0 0 Novel: Amino Acid -> Known AA = V647I (1) S821R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 31 14 30.43 24 9 27.27 53 0 0 ERCC6 1 0 0 10 50686517 50686519 50356523 50356525 Splice_Site DEL CTT 0 TCGA-AB-2802 3 50 NM_000124.2 e10-1 0 0 0 0 Novel: Amino Acid -> Known AA = P591A (1) R975R (1) E1119L (1) E1119V (1) Q524* (1) E1119Q (1) R652L (1) R557G (1) R1038T (2) Novel: Amino Acid NA NA NA NA NA NA 173 86 33.2 122 50 28.9 NA NA NA ERRFI1 1 0 0 1 8073461 8073461 7996048 7996048 Nonsense_Mutation SNP G A TCGA-AB-3008 3 22 NM_018948.3 p.R400* NULL 0 0 0 Novel: Amino Acid -> Known AA = T187A (1) Novel: Amino Acid - OMIM Gene Name Not Found 0 0.0268 0.0093 NA NA NA 10 5 33.33 14 18 56.25 3 0 0 ESPL1 1 0 0 12 53675412 53675412 51961679 51961679 Splice_Site SNP T C TCGA-AB-2986 3 31 NM_012291.4 e12+2 0 0 0 0 Novel: Amino Acid -> Known AA = R1473R (1) G1609C (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0427 0.0535 0.0465 NA NA NA 14 15 51.72 18 19 50 0 0 0 ETV6 1 X 0.01 12 11992215 11992216 11883482 11883483 Frame_Shift_Ins INS 0 TCCC TCGA-AB-2909 9 22 NM_001987.4 p.R103fs "HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_SAM/Pointed domain" 0 0 0 Novel: Amino Acid -> Known AA = ? (1) G375R (1) Novel: Amino Acid NA NA NA NA NA NA 108 18 16.67 154 65 41.14 372 0 0 EVI5 1 0 0 1 93089892 93089892 92862480 92862480 Splice_Site SNP C T TCGA-AB-2838 4 67 NM_005665.4 e14-1 0 0 0 0 Novel: Amino Acid -> Known AA = P770T (1) E286Q (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 54 58 51.79 241 264 52.07 0 0 0 EXO1 1 0 0 1 242042114 242042115 240108737 240108738 Frame_Shift_Del DEL TG 0 TCGA-AB-3002 6 68 NM_006027.4 p.D526fs NULL 0 0 0 Novel: Amino Acid -> Known AA = R373R (1) A98T (1) K444T (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 44 20 30.3 32 15 31.91 6 0 0 EYS 1 0 0 6 64709008 64709008 64766967 64766967 Frame_Shift_Del DEL G 0 TCGA-AB-2859 7 40 NM_001142800.1 p.P2265fs "HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2" 0 0 0 Novel: Amino Acid -> Known AA = E335D (1) Novel: Amino Acid NA NA NA NA NA NA 16 8 32 57 22 27.85 0 0 0 FADS1 1 0 0 11 61572171 61572171 61328747 61328747 Nonsense_Mutation SNP G A TCGA-AB-2868 4 77 NM_013402.4 p.R347* HMMPfam_FA_desaturase rs142276858 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = T16T (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0151 0 0.0102 0.0013 0 0.0005 51 46 47.42 36 43 54.43 27 9 25 FAM111A 1 0 0 11 58919922 58919923 58676498 58676499 Frame_Shift_Ins INS 0 GCAGATACTT TCGA-AB-2997 6 25 NM_001142519.1 p.F264fs NULL 0 0 0 Novel: Amino Acid -> Known AA = T366S (1) S398T (1) R569G (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 35 5 14.29 27 9 33.33 NA NA NA FAM111B 1 0 0 11 58893257 58893257 58649833 58649833 Nonsense_Mutation SNP C T TCGA-AB-2914 8 22 NM_198947.3 p.R563* superfamily_Trypsin-like serine proteases 0 0 0 "Novel, but near match: Amino Acid -> Known AA for Gene = S331N (1) W562* (1)" Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 71 56 43.75 66 48 42.11 3 1 25 FAM124A 1 0 0 13 51826178 51826179 50724179 50724180 Frame_Shift_Ins INS 0 CC TCGA-AB-2821 5 64 NM_145019.2 p.C262fs NULL 0 0 0 Novel: Amino Acid -> Known AA = A511V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 103 52 49.06 122 52 40.94 11 0 0 FAM162A 1 0 0 3 122123211 122123211 123605901 123605901 Splice_Site SNP G A TCGA-AB-2968 4 79 NM_014367.3 e3+1 0 0 0 0 Novel: Amino Acid -> Known AA = D81D (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0452 0 0.0308 NA NA NA 25 20 44.44 22 16 42.11 NA NA NA FAM166A 4 0 0.005 9 140138736 140138737 139258557 139258558 Frame_Shift_Del DEL AG 0 TCGA-AB-2805 3 77 NM_001001710.1 p.L251fs NULL 0 0 0 Novel: Amino Acid -> Known AA = M290K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 13 5 27.78 13 4 23.53 0 0 0 FAM166A 4 0 0.005 9 140138736 140138737 139258557 139258558 Frame_Shift_Del DEL AG 0 TCGA-AB-2861 5 76 NM_001001710.1 p.L251fs NULL 0 0 0 Novel: Amino Acid -> Known AA = M290K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 14 7 33.33 20 9 31.03 2 0 0 FAM166A 4 0 0.005 9 140138736 140138737 139258557 139258558 Frame_Shift_Del DEL AG 0 TCGA-AB-2856 3 63 NM_001001710.1 p.L251fs NULL 0 0 0 Novel: Amino Acid -> Known AA = M290K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 8 4 33.33 5 3 33.33 0 0 0 FAM166A 4 0 0.005 9 140138736 140138737 139258557 139258558 Frame_Shift_Del DEL AG 0 TCGA-AB-2997 6 25 NM_001001710.1 p.L251fs NULL 0 0 0 Novel: Amino Acid -> Known AA = M290K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 22 9 29.03 22 13 37.14 NA NA NA FAM175A 1 0 0 4 84383747 84383747 84602771 84602771 Nonsense_Mutation SNP G A TCGA-AB-2857 4 54 NM_139076.2 p.R369* NULL 0 0 0 "Novel, but near match: Amino Acid -> Known AA for Gene = D367N (1)" Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 194 182 48.4 182 139 43.17 14 12 44.44 FAM179A 2 0 0 2 29222136 29222145 29075640 29075649 Frame_Shift_Del DEL CTGGACACCC 0 TCGA-AB-2844 4 63 NM_199280.2 p.D78fs NULL 0 0 0 Novel: Amino Acid -> Known AA = P34L (1) S356Y (1) L490L (1) L655L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 291 49 14.41 230 53 18.66 NA NA NA FAM179A 2 0 0 2 29258439 29258440 29111943 29111944 Frame_Shift_Ins INS 0 TCCGG TCGA-AB-2829 8 50 NM_199280.2 p.R782fs superfamily_ARM repeat 0 0 0 Novel: Amino Acid -> Known AA = P34L (1) S356Y (1) L490L (1) L655L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 37 13 30.95 37 11 27.5 NA NA NA FAM184B 1 0 0 4 17711269 17711269 17320367 17320367 Splice_Site SNP T C TCGA-AB-2987 5 75 NM_015688.1 e2-2 0 0 0 0 Novel: Amino Acid -> Known AA = ? (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 9 7 43.75 12 5 29.41 0 0 0 FAM187B 2 0 0 19 35718915 35718915 40410755 40410755 Frame_Shift_Del DEL G 0 TCGA-AB-2847 6 53 NM_152481.1 p.D224fs NULL 0 0 0 Novel: Amino Acid -> Known AA = H50Q (1) L92F (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 87 48 35.29 88 46 34.07 0 0 0 FAM187B 2 0 0 19 35719139 35719139 40410979 40410979 Nonsense_Mutation SNP G A TCGA-AB-2802 3 50 NM_152481.1 p.Q149* NULL 0 0 0 Novel: Amino Acid -> Known AA = H50Q (1) L92F (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 46 56 54.9 49 45 47.87 NA NA NA FAM47B 1 0 0.005 X 34962583 34962584 34872504 34872505 Frame_Shift_Ins INS 0 C TCGA-AB-2882 8 73 NM_152631.2 p.I545fs NULL 0 0 0 Novel: Amino Acid -> Known AA = R291H (1) Q202* (1) S453C (1) L374I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0 0 0 303 136 43.73 338 166 47.7 NA NA NA FAM83H 3 0 0 8 144811340 144811340 144883328 144883328 Nonsense_Mutation SNP G A TCGA-AB-2821 5 64 NM_198488.3 p.Q201* "HMMPfam_DUF1669,superfamily_Phospholipase D/nuclease" rs189033490 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = E997K (1) T815T (1) P369L (1) Novel: Amino Acid 0.147 0.115 0.1362 0.0026 0 0.0014 33 44 56.41 108 52 32.5 1 1 50 FAM83H 3 0 0 8 144811340 144811340 144883328 144883328 Nonsense_Mutation SNP G A TCGA-AB-2830 7 64 NM_198488.3 p.Q201* "HMMPfam_DUF1669,superfamily_Phospholipase D/nuclease" rs189033490 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = E997K (1) T815T (1) P369L (1) Novel: Amino Acid 0.147 0.115 0.1362 0.0026 0 0.0014 60 82 57.34 144 98 40.33 15 6 28.57 FAM83H 3 0 0 8 144811340 144811340 144883328 144883328 Nonsense_Mutation SNP G A TCGA-AB-2978 3 61 NM_198488.3 p.Q201* "HMMPfam_DUF1669,superfamily_Phospholipase D/nuclease" rs189033490 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = E997K (1) T815T (1) P369L (1) Novel: Amino Acid 0.147 0.115 0.1362 0.0026 0 0.0014 6 13 65 9 16 64 0 2 100 FAM90A1 2 0 0.005 12 8377368 8377368 8268635 8268635 Frame_Shift_Del DEL G 0 TCGA-AB-2823 7 61 NM_018088.3 p.Q21fs NULL 0 0 0 Novel: Amino Acid -> Known AA = P7P (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 24 9 27.27 33 5 13.16 0 0 0 FAM90A1 2 0 0.005 12 8377368 8377368 8268635 8268635 Frame_Shift_Del DEL G 0 TCGA-AB-2858 3 75 NM_018088.3 p.Q21fs NULL 0 0 0 Novel: Amino Acid -> Known AA = P7P (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 11 4 26.67 24 8 25 0 0 0 FANCC 1 X 0.005 9 97873912 97873912 96913733 96913733 Nonsense_Mutation SNP C A TCGA-AB-2870 5 76 NM_000136.2 p.G388* HMMPfam_Fanconi_C 0 0 0 Novel: Amino Acid -> Known AA = L81fs* (1) Novel: Amino Acid NA NA NA NA NA NA 60 39 39.39 98 88 47.31 8 2 20 FANCF 1 X 0 11 22646872 22646873 22603448 22603449 Frame_Shift_Del DEL AG 0 TCGA-AB-2841 5 51 NM_022725.3 p.L162fs NULL 0 0 0 Novel: Amino Acid -> Known AA = P185L (1) Novel: Amino Acid NA NA NA NA NA NA 160 68 29.82 199 96 32.54 16 0 0 FAT4 1 0 0.005 4 126239022 126239022 126458472 126458472 Nonsense_Mutation SNP G T TCGA-AB-2817 3 63 NM_024582.4 p.E486* "HMMPfam_Cadherin,superfamily_Cadherin-like" 0 0 0 Novel: Amino Acid -> Known AA = L2145H (1) G4884D (1) I1429T (1) S1342S (1) P4292L (1) I3413I (1) G2273R (1) G1453G (1) D1868N (1) Y1137Y (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 13 12 48 32 22 40.74 0 0 0 FBXW10 1 0 0 17 18653181 18653181 18593906 18593906 Frame_Shift_Del DEL A 0 TCGA-AB-2853 5 51 NM_031456.3 p.K273fs superfamily_WD40 repeat-like 0 0 0 Novel: Amino Acid -> Known AA = K374N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 331 140 29.6 74 24 24 0 0 0 FBXW8 1 0 0 12 117448196 117448197 115932579 115932580 Frame_Shift_Del DEL GT 0 TCGA-AB-2867 5 66 NM_153348.2 p.V438fs "HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase" 0 0 0 Novel: Amino Acid -> Known AA = S578S (1) S470S (1) I125T (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 357 115 24.36 674 250 27.03 8 6 42.86 FCGBP 2 0 0.025 19 40408527 40408537 45100367 45100377 Frame_Shift_Del DEL TCCCCGGCGGG 0 TCGA-AB-2845 12 37 NM_003890.2 p.C1434fs NULL 0 0 0 Novel: Amino Acid -> Known AA = V4311I (1) L242P (1) R5092H (1) P1339H (1) V5330M (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 76 25 24.75 73 14 16.09 NA NA NA FCGBP 2 0 0.025 19 40419645 40419645 45111485 45111485 Nonsense_Mutation SNP G A TCGA-AB-2835 7 48 NM_003890.2 p.Q1117* HMMPfam_C8 0 0 0 Novel: Amino Acid -> Known AA = V4311I (1) L242P (1) R5092H (1) P1339H (1) V5330M (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 485 431 46.95 234 220 48.25 0 0 0 FCN1 1 0 0 9 137804330 137804330 136944151 136944151 Splice_Site SNP A G TCGA-AB-2871 10 51 NM_002003.3 e7+2 0 0 0 0 Novel: Amino Acid -> Known AA = Y175C (1) K23N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 21 27 56.25 15 13 46.43 2 4 66.67 FERD3L 1 0 0 7 19184847 19184847 19151372 19151372 Nonsense_Mutation SNP G A TCGA-AB-2992 8 32 NM_152898.2 p.R47* NULL 0 0 0 Novel: Amino Acid -> Known AA = G36R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 8 12 60 9 10 50 0 0 0 FERMT1 1 0 0 20 6088217 6088217 6036217 6036217 Nonsense_Mutation SNP G A TCGA-AB-2883 6 60 NM_017671.4 p.R271* "superfamily_Second domain of FERM,HMMSmart_SM00295" rs121918293 unknown "OMIM-CURATED-RECORDS," Novel: Amino Acid -> Known AA = L653F (1) G649S (1) Match: Amino Acid NA NA NA NA NA NA 40 40 50 29 31 51.67 8 0 0 FLG 6 0 0.015 1 152276477 152276477 150543101 150543101 Frame_Shift_Del DEL G 0 TCGA-AB-2947 3 52 NM_002016.1 p.H3629fs HMMPfam_Filaggrin 0 0 0 Novel: Amino Acid -> Known AA = K39N (1) G149G (1) R3892Q (1) G3085R (1) R2018K (1) R3483S (1) S522S (1) D3492Y (1) R1567W (1) Novel: Amino Acid NA NA NA NA NA NA 210 73 25 940 335 25.65 NA NA NA FLG 6 0 0.015 1 152279246 152279247 150545870 150545871 Frame_Shift_Del DEL AC 0 TCGA-AB-2928 8 43 NM_002016.1 p.Q2705fs NULL 0 0 0 Novel: Amino Acid -> Known AA = K39N (1) G149G (1) R3892Q (1) G3085R (1) R2018K (1) R3483S (1) S522S (1) D3492Y (1) R1567W (1) Novel: Amino Acid NA NA NA NA NA NA 39 5 11.36 53 9 14.52 0 0 0 FLG 6 0 0.015 1 152280094 152280095 150546718 150546719 Frame_Shift_Del DEL TG 0 TCGA-AB-2922 4 83 NM_002016.1 p.Q2423fs NULL 0 0 0 Novel: Amino Acid -> Known AA = K39N (1) G149G (1) R3892Q (1) G3085R (1) R2018K (1) R3483S (1) S522S (1) D3492Y (1) R1567W (1) Novel: Amino Acid NA NA NA NA NA NA 213 107 33.02 371 170 31.19 NA NA NA FLG 6 0 0.015 1 152285477 152285477 150552101 150552101 Nonsense_Mutation SNP C A TCGA-AB-2940 4 35 NM_002016.1 p.G629* HMMPfam_Filaggrin 0 0 0 Novel: Amino Acid -> Known AA = K39N (1) G149G (1) R3892Q (1) G3085R (1) R2018K (1) R3483S (1) S522S (1) D3492Y (1) R1567W (1) Novel: Amino Acid NA NA NA NA NA NA 155 188 54.81 337 276 45.02 0 0 0 FLG 6 0 0.015 1 152285752 152285752 150552376 150552376 Frame_Shift_Del DEL T 0 TCGA-AB-2954 4 55 NM_002016.1 p.N537fs NULL 0 0 0 Novel: Amino Acid -> Known AA = K39N (1) G149G (1) R3892Q (1) G3085R (1) R2018K (1) R3483S (1) S522S (1) D3492Y (1) R1567W (1) Novel: Amino Acid NA NA NA NA NA NA 652 219 24.89 1064 454 29.62 0 0 0 FLG 6 0 0.015 1 152286702 152286702 150553326 150553326 Frame_Shift_Del DEL T 0 TCGA-AB-2880 7 24 NM_002016.1 p.G221fs NULL 0 0 0 Novel: Amino Acid -> Known AA = K39N (1) G149G (1) R3892Q (1) G3085R (1) R2018K (1) R3483S (1) S522S (1) D3492Y (1) R1567W (1) Novel: Amino Acid NA NA NA NA NA NA 61 26 29.89 79 37 31.9 0 0 0 FLG2 3 0 0 1 152327158 152327161 150593782 150593785 Frame_Shift_Del DEL TATT 0 TCGA-AB-2959 4 71 NM_001014342.2 p.Q1034fs NULL 0 0 0 Novel: Amino Acid -> Known AA = G1065V (1) H2196N (1) Q1859P (1) E443V (1) H2069H (1) Q796K (1) G1119V (1) T1467I (1) F442L (1) H1454R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 832 330 28.3 754 273 26.56 0 0 0 FLG2 3 0 0 1 152327158 152327161 150593782 150593785 Frame_Shift_Del DEL TATT 0 TCGA-AB-2979 5 30 NM_001014342.2 p.Q1034fs NULL 0 0 0 Novel: Amino Acid -> Known AA = G1065V (1) H2196N (1) Q1859P (1) E443V (1) H2069H (1) Q796K (1) G1119V (1) T1467I (1) F442L (1) H1454R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 31 15 32.61 29 16 34.78 0 0 0 FLG2 3 0 0 1 152329882 152329882 150596506 150596506 Nonsense_Mutation SNP G T TCGA-AB-2918 6 47 NM_001014342.2 p.S127* NULL 0 0 0 Novel: Amino Acid -> Known AA = G1065V (1) H2196N (1) Q1859P (1) E443V (1) H2069H (1) Q796K (1) G1119V (1) T1467I (1) F442L (1) H1454R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 98 129 56.83 72 81 52.94 NA NA NA FLI1 1 X 0 11 128628223 128628223 128133433 128133433 Splice_Site SNP T C TCGA-AB-2870 5 76 NM_002017.3 e2+2 0 0 0 0 Novel: Amino Acid -> Known AA = Y332Y (1) L283L (1) G94E (1) L199L (1) V410I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 41 23 35.94 40 55 57.89 3 7 36.84 FLNB 1 0 0 3 58109408 58109408 58084448 58084448 Nonsense_Mutation SNP G T TCGA-AB-2977 4 71 NM_001457.3 p.E1239* "HMMSmart_IG_FLMN,superfamily_Ig_E-set,HMMPfam_Filamin" 0 0 0 Novel: Amino Acid -> Known AA = E1144E (1) A875P (1) *794_795insD (1) T703K (1) N663K (1) E1305D (1) A1534G (1) D794-795V (1) R566Q (1) Novel: Amino Acid NA NA NA NA NA NA 5 6 54.55 9 12 54.55 2 4 66.67 FNDC8 1 0 0 17 33456524 33456525 30480637 30480638 Frame_Shift_Del DEL TG 0 TCGA-AB-2832 5 59 NM_017559.2 p.N223fs "HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like" 0 0 0 Novel: Amino Acid -> Known AA = N68I (1) P300P (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 111 40 26.32 197 77 28.1 8 4 33.33 FOLH1 1 0 0 11 49208294 49208294 49164870 49164870 Nonsense_Mutation SNP G A TCGA-AB-2900 13 70 NM_004476.1 p.R181* "HMMPfam_PA,superfamily_Transferrin receptor ectodomain apical domain" 0 0 0 Novel: Amino Acid -> Known AA = A23T (1) Novel: Amino Acid - OMIM Gene Name Not Found 0 0.0268 0.0093 NA NA NA 53 67 55.83 56 66 54.1 NA NA NA FOXM1 1 0 0 12 2977875 2977876 2848136 2848137 Frame_Shift_Del DEL AC 0 TCGA-AB-2935 7 66 NM_202002.1 p.S234fs HMMSmart_SM00339 0 0 0 Novel: Amino Acid -> Known AA = E518K (1) R579K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 43 19 30.16 178 71 28.4 25 8 24.24 FOXP1 1 X 0.005 3 71026101 71026101 71108791 71108791 Frame_Shift_Del DEL G 0 TCGA-AB-2880 7 24 NM_032682.4 p.T508fs "HMMPfam_Fork_head,HMMSmart_SM00339,superfamily_Winged helix DNA-binding domain" 0 0 0 Novel: Amino Acid -> Known AA = ? (1) R603Q (1) Novel: Amino Acid NA NA NA NA NA NA 187 19 9.18 145 26 15.03 61 0 0 FRYL 2 0 0.01 4 48523178 48523178 48217935 48217935 Frame_Shift_Del DEL G 0 TCGA-AB-2941 4 73 NM_015030.1 p.L2526fs superfamily_ARM repeat 0 0 0 Novel: Amino Acid -> Known AA = F2952F (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 147 90 37.5 37 16 30.19 16 1 5.56 FRYL 2 0 0.01 4 48622717 48622717 48317474 48317474 Nonsense_Mutation SNP G A TCGA-AB-2812 12 25 NM_015030.1 p.Q85* NULL 0 0 0 Novel: Amino Acid -> Known AA = F2952F (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 226 224 49.78 124 100 44.64 6 9 60 FUK 1 0 0 16 70508510 70508510 69066011 69066011 Nonsense_Mutation SNP C T TCGA-AB-2829 8 50 NM_145059.2 p.Q690* NULL 0 0 0 Novel: Amino Acid -> Known AA = R35R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 8 5 38.46 1 6 85.71 NA NA NA GANAB 1 0 0 11 62400190 62400191 62156766 62156767 Frame_Shift_Ins INS 0 T TCGA-AB-2983 5 45 NM_198335.2 p.N303fs NULL 0 0 0 Novel: Amino Acid -> Known AA = S357* (1) C47C (1) R493R (1) A675T (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 51 25 47.17 22 10 43.48 74 8 10.67 GAP43 1 0 0 3 115382716 115382716 116865406 116865406 Nonsense_Mutation SNP C T TCGA-AB-2906 3 59 NM_001130064.1 p.R31* NULL 0 0 0 Novel: Amino Acid -> Known AA = T215I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 14 16 53.33 14 15 51.72 NA NA NA GAS2L2 1 0 0 17 34074230 34074233 31098343 31098346 Frame_Shift_Del DEL CTTA 0 TCGA-AB-2894 6 50 NM_139285.2 p.V296fs NULL 0 0 0 Novel: Amino Acid -> Known AA = V235E (1) G101R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 165 65 28.26 144 41 21.93 0 0 0 GBP5 2 0 0 1 89729465 89729466 89502053 89502054 Frame_Shift_Del DEL TC 0 TCGA-AB-2849 5 39 NM_001134486.1 p.E439fs "HMMPfam_GBP_C,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain" 0 0 0 Novel: Amino Acid -> Known AA = I302N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 175 53 23.25 195 78 28.57 58 18 13.24 GBP5 2 0 0 1 89729465 89729466 89502053 89502054 Frame_Shift_Del DEL TC 0 TCGA-AB-2855 5 18 NM_001134486.1 p.E439fs "HMMPfam_GBP_C,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain" 0 0 0 Novel: Amino Acid -> Known AA = I302N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 105 31 22.79 248 106 29.94 13 0 0 GBP7 1 0 0 1 89616181 89616181 89388769 89388769 Frame_Shift_Del DEL C 0 TCGA-AB-2931 9 75 NM_207398.2 p.V235fs "HMMPfam_GBP,superfamily_P-loop containing nucleoside triphosphate hydrolases" 0 0 0 Novel: Amino Acid -> Known AA = P8P (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 211 93 30 70 36 33.33 1 0 0 GCNT2 1 0 0 6 10529844 10529844 10637830 10637830 Nonsense_Mutation SNP C T TCGA-AB-2922 4 83 NM_145649.4 p.Q234* HMMPfam_Branch 0 0 0 Novel: Amino Acid -> Known AA = K209K (1) S15N (1) Novel: Amino Acid NA NA NA NA NA NA 160 187 53.89 185 163 46.84 NA NA NA GFM1 1 0 0 3 158376794 158376797 159859488 159859491 Frame_Shift_Del DEL AAGA 0 TCGA-AB-2964 4 57 NM_024996.5 p.K392fs "HMMPfam_GTP_EFTU_D2,superfamily_Translat_factor" 0 0 0 Novel: Amino Acid -> Known AA = E93K (1) L310L (1) I238V (1) Q367Q (1) Novel: Amino Acid NA NA NA NA NA NA 28 10 26.32 21 8 25.81 NA NA NA GGA2 1 0 0 16 23497419 23497419 23404920 23404920 Nonsense_Mutation SNP G A TCGA-AB-2893 4 45 NM_015044.4 p.R239* "HMMPfam_GAT,superfamily_SSF89009" 0 0 0 Novel: Amino Acid -> Known AA = I532I (1) L114L (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0142 0 0.0093 NA NA NA 94 215 69.13 73 72 49.66 63 32 33.68 GGTLC1 1 0 0 20 23967174 23967174 23915174 23915174 Nonsense_Mutation SNP G C TCGA-AB-2833 7 77 NM_178311.2 p.Y25* HMMPfam_G_glu_transpept 0 0 0 Novel: Amino Acid -> Known AA = G129R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 73 47 39.17 24 29 53.7 0 0 0 GJA1 2 0 0 6 121768925 121768925 121810624 121810624 Frame_Shift_Del DEL C 0 TCGA-AB-2830 7 64 NM_000165.3 p.A311fs HMMPfam_Connexin43 0 0 0 Novel: Amino Acid -> Known AA = D360E (1) V289L (1) Novel: Amino Acid NA NA NA NA NA NA 311 36 10.34 310 35 10.14 2 0 0 GJA1 2 0 0 6 121768925 121768925 121810624 121810624 Frame_Shift_Del DEL C 0 TCGA-AB-2928 8 43 NM_000165.3 p.A311fs HMMPfam_Connexin43 0 0 0 Novel: Amino Acid -> Known AA = D360E (1) V289L (1) Novel: Amino Acid NA NA NA NA NA NA 277 27 8.88 329 40 10.84 1 0 0 GLB1L2 1 0 0 11 134226251 134226251 133731461 133731461 Nonsense_Mutation SNP T A TCGA-AB-2909 9 22 NM_138342.3 p.Y205* "HMMPfam_Glyco_hydro_35,superfamily_Glyco_hydro_cat" rs144969583 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = A49V (1) P135L (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0142 0 0.0093 0 0 0.0027 88 54 38.03 86 98 53.26 0 0 0 GMPR 3 0 0 6 16290848 16290849 16398827 16398828 Frame_Shift_Ins INS 0 AC TCGA-AB-2926 9 57 NM_006877.3 p.R286fs "HMMPfam_IMPDH,superfamily_SSF51412" 0 0 0 Novel: Amino Acid -> Known AA = A234A (1) Novel: Amino Acid NA NA NA NA NA NA 112 64 56.14 186 90 47.87 NA NA NA GMPR 3 0 0 6 16290848 16290849 16398827 16398828 Frame_Shift_Ins INS 0 AC TCGA-AB-2813 7 78 NM_006877.3 p.R286fs "HMMPfam_IMPDH,superfamily_SSF51412" 0 0 0 Novel: Amino Acid -> Known AA = A234A (1) Novel: Amino Acid NA NA NA NA NA NA 158 58 36.02 121 42 34.15 5 0 0 GMPR 3 0 0 6 16290848 16290849 16398827 16398828 Frame_Shift_Ins INS 0 AC TCGA-AB-2879 4 68 NM_006877.3 p.R286fs "HMMPfam_IMPDH,superfamily_SSF51412" 0 0 0 Novel: Amino Acid -> Known AA = A234A (1) Novel: Amino Acid NA NA NA NA NA NA 135 46 32.62 151 70 45.45 3 0 0 GOLIM4 1 0 0 3 167762615 167762615 169245309 169245309 Splice_Site DEL C 0 TCGA-AB-2850 6 72 NM_014498.3 e4+1 0 0 0 0 Novel: Amino Acid -> Known AA = S147I (1) A312P (1) A312V (1) A312>L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 15 4 21.05 16 8 33.33 NA NA NA GPR109B 1 0 0 12 123201013 123201013 121766966 121766966 Frame_Shift_Del DEL G 0 TCGA-AB-2938 4 76 NM_006018.2 p.S91fs "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" 0 0 0 Novel: Amino Acid -> Known AA = G350S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 91 39 29.77 87 41 31.78 1 0 0 GPR128 1 0 0.005 3 100354623 100354623 101837313 101837313 Nonsense_Mutation SNP C T TCGA-AB-2808 4 23 NM_032787.2 p.R184* NULL 0 0 0 Novel: Amino Acid -> Known AA = T516K (1) V453D (1) P780L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 47 49 51.04 39 16 29.09 1 0 0 GPR155 1 0 0 2 175326324 175326325 175034570 175034571 Frame_Shift_Ins INS 0 GATATTAT TCGA-AB-2806 4 46 NM_001033045.2 p.G488fs NULL 0 0 0 Novel: Amino Acid -> Known AA = T416S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 82 12 14.29 81 16 19.28 NA NA NA GPR179 1 0 0 17 36499378 36499378 33752904 33752904 Frame_Shift_Del DEL C 0 TCGA-AB-2940 4 35 NM_001004334.2 p.A99fs NULL 0 0 0 Novel: Amino Acid -> Known AA = L1674F (1) I279M (1) W1960fs* (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0 0.0041 0.0009 81 37 30.83 45 20 30.77 0 0 0 GPR87 1 0 0 3 151017854 151017854 152500544 152500544 Splice_Site SNP C T TCGA-AB-3006 10 61 NM_023915.3 e1+1 0 0 0 0 Novel: Amino Acid -> Known AA = D191Y (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 22 18 45 14 16 53.33 2 0 0 GRB14 1 0 0 2 165349605 165349606 165057851 165057852 Frame_Shift_Ins INS 0 TTGA TCGA-AB-2926 9 57 NM_004490.2 p.L521fs "HMMSmart_SH2,superfamily_SSF55550" 0 0 0 Novel: Amino Acid -> Known AA = L139L (1) G497C (1) N349K (1) H501H (1) A405S (1) K67M (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 145 63 42.57 160 57 34.97 NA NA NA GRN 1 0 0 17 42429786 42429786 39785312 39785312 Frame_Shift_Del DEL G 0 TCGA-AB-2882 8 73 NM_002087.2 p.E498fs NULL 0 0 0 Novel: Amino Acid -> Known AA = P151L (1) A276A (1) G109G (1) Novel: Amino Acid NA NA NA NA NA NA 115 49 29.88 69 29 29.59 NA NA NA GSTCD 1 0 0.005 4 106639005 106639005 106858454 106858454 Nonsense_Mutation SNP C T TCGA-AB-2992 8 32 NM_001031720.2 p.Q79* NULL 0 0 0 Novel: Amino Acid -> Known AA = I26I (1) E479Q (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 20 22 52.38 12 16 57.14 7 7 50 GUCY2C 1 0 0.005 12 14767879 14767879 14659146 14659146 Splice_Site SNP T C TCGA-AB-2938 4 76 NM_004963.3 e26-2 0 0 0 0 Novel: Amino Acid -> Known AA = T682I (1) T618A (1) C685C (1) G61R (1) S23G (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 42 21 33.33 60 39 39 0 0 0 GYLTL1B 1 0 0 11 45948899 45948899 45905475 45905475 Nonsense_Mutation SNP G A TCGA-AB-2842 7 64 NM_152312.3 p.W453* NULL 0 0 0 Novel: Amino Acid -> Known AA = L393L (1) A448S (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0142 0 0.0093 NA NA NA 88 70 44.03 42 83 65.87 0 0 0 HADHA 1 0 0 2 26459759 26459763 26313263 26313267 Frame_Shift_Del DEL GATGA 0 TCGA-AB-2849 5 39 NM_000182.4 p.S92fs "HMMPfam_ECH,superfamily_ClpP/crotonase" 0 0 0 Novel: Amino Acid -> Known AA = D434H (1) Novel: Amino Acid NA NA NA NA NA NA 101 20 16.53 76 20 20.83 NA NA NA HAL 1 0 0 12 96379924 96379924 94904055 94904055 Nonsense_Mutation SNP G A TCGA-AB-2981 5 35 NM_002108.2 p.R356* "HMMPfam_PAL,superfamily_L-Aspartase-like" 0 0 0 Novel: Amino Acid -> Known AA = E601Q (1) V579V (1) Novel: Amino Acid NA NA NA NA NA NA 34 28 45.16 15 12 44.44 44 20 31.25 HAUS3 1 0 0 4 2240511 2240511 2210309 2210309 Nonsense_Mutation SNP G C TCGA-AB-2933 4 58 NM_024511.5 p.S390* NULL 0 0 0 Novel: Amino Acid -> Known AA = I63L (1) S54F (1) V553M (2) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 13 14 51.85 19 23 53.49 13 7 35 HDAC2 1 0 0.005 6 114265443 114265443 114372136 114372136 Splice_Site SNP C T TCGA-AB-2866 9 67 NM_001527.3 e11+1 0 0 0 0 Novel: Amino Acid -> Known AA = R409* (1) K166N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 135 21 13.46 97 37 27.61 2 221 95.67 HEATR7B2 2 0 0.005 5 41008878 41008878 41044635 41044635 Nonsense_Mutation SNP A T TCGA-AB-2907 3 69 NM_173489.4 p.Y1146* superfamily_ARM repeat 0 0 0 Novel: Amino Acid -> Known AA = I1372T (1) F1385F (1) R720T (1) T456N (1) I783T (1) P203P (1) I783I (1) A528P (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 10 14 58.33 17 9 34.62 NA NA NA HEATR7B2 2 0 0.005 5 41064591 41064598 41100348 41100355 Frame_Shift_Del DEL TTCATCCT 0 TCGA-AB-2845 12 37 NM_173489.4 p.R146fs NULL 0 0 0 Novel: Amino Acid -> Known AA = I1372T (1) F1385F (1) R720T (1) T456N (1) I783T (1) P203P (1) I783I (1) A528P (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 51 23 31.08 69 27 28.12 NA NA NA HEPACAM2 1 0 0 7 92844744 92844744 92682680 92682680 Nonsense_Mutation SNP C A TCGA-AB-3005 4 45 NM_001039372.1 p.E229* "HMMSmart_SM00409,superfamily_Immunoglobulin" 0 0 0 Novel: Amino Acid -> Known AA = F102L (1) E401E (1) Y226* (1) G19R (1) L192V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 21 29 58 19 17 47.22 0 1 100 HEXA 1 0 0 15 72638920 72638921 70425974 70425975 Frame_Shift_Ins INS 0 GATA TCGA-AB-2887 2 60 NM_000520.4 p.Y427fs "HMMPfam_Glyco_hydro_20,superfamily_(Trans)glycosidases" 0 0 0 Novel: Amino Acid -> Known AA = K342R (1) Y435Y (1) T217S (1) Novel: Amino Acid NA NA NA NA NA NA 389 108 27.48 408 104 24.82 42 0 0 HEXB 1 0 0 5 74011454 74011457 74047210 74047213 Frame_Shift_Del DEL AGTG 0 TCGA-AB-2898 5 69 NM_000521.3 p.S341fs "HMMPfam_Glyco_hydro_20,superfamily_(Trans)glycosidases" 0 0 0 Novel: Amino Acid -> Known AA = G418R (1) Novel: Amino Acid NA NA NA NA NA NA 186 51 20.82 195 55 21.91 23 0 0 HIST1H1C 1 0 0 6 26056531 26056532 26164510 26164511 Frame_Shift_Del DEL CT 0 TCGA-AB-2928 8 43 NM_005319.3 p.E42fs "HMMPfam_Linker_histone,HMMSmart_SM00526,superfamily_Winged helix DNA-binding domain" 0 0 0 Novel: Amino Acid -> Known AA = *214Y (1) T4S (1) A61V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 119 34 21.94 181 80 30.65 53 16 23.19 HIST1H3H 1 0 0 6 27777909 27777909 27885888 27885888 Nonsense_Mutation SNP C T TCGA-AB-2831 5 59 NM_003536.2 p.Q20* "PatternScan_HISTONE_H3_1,superfamily_Histone-fold" 0 0 0 Novel: Amino Acid -> Known AA = R9G (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 34 21 38.18 43 31 41.89 NA NA NA HMGXB3 1 0 0 5 149429978 149429978 149410171 149410171 Nonsense_Mutation SNP G A TCGA-AB-2983 5 45 NM_014983.2 p.W1122* NULL 0 0 0 Novel: Amino Acid -> Known AA = K342N (1) E1271K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 24 19 44.19 18 10 35.71 22 29 56.86 HOXD10 1 0 0 2 176983912 176983912 176692158 176692158 Nonsense_Mutation SNP C T TCGA-AB-2835 7 48 NM_002148.3 p.R326* "HMMSmart_HOX,superfamily_Homeodomain_like" 0 0 0 Novel: Amino Acid -> Known AA = E250K (1) Novel: Amino Acid NA NA NA NA NA NA 56 38 40.43 59 51 45.54 0 0 0 HRC 1 0 0 19 49657306 49657306 54349118 54349118 Nonsense_Mutation SNP G A TCGA-AB-2834 7 33 NM_002152.2 p.R397* NULL 0 0 0 Novel: Amino Acid -> Known AA = S401G (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0142 0.0535 0.0279 NA NA NA 134 168 55.63 231 228 49.67 0 0 0 HRNR 1 0 0 1 152191214 152191214 150457838 150457838 Nonsense_Mutation SNP G C TCGA-AB-2814 4 39 NM_001009931.1 p.S964* NULL 0 0 0 Novel: Amino Acid -> Known AA = G250S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 39 41 51.25 87 67 43.51 0 0 0 HSD17B2 1 0 0 16 82101876 82101876 80659377 80659377 Nonsense_Mutation SNP G T TCGA-AB-2825 9 31 NM_002153.2 p.E123* "HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains" 0 0 0 Novel: Amino Acid -> Known AA = P340S (1) C92C (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 116 73 38.42 70 86 54.78 0 0 0 HSD3B2 1 0 0 1 119958057 119958057 119759580 119759580 Nonsense_Mutation SNP C A TCGA-AB-2855 5 18 NM_000198.3 p.C5* superfamily_NAD(P)-binding Rossmann-fold domains 0 0 0 Novel: Amino Acid -> Known AA = E354V (1) F275F (1) Novel: Amino Acid NA NA NA NA NA NA 89 48 35.04 141 133 48.54 0 0 0 HSPA14 1 0 0 10 14894505 14894505 14934511 14934511 Nonsense_Mutation SNP C T TCGA-AB-2976 3 53 NM_016299.2 p.Q237* "HMMPfam_HSP70,superfamily_Actin-like ATPase domain" 0 0 0 Novel: Amino Acid -> Known AA = A85V (2) E301Q (1) Y286H (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 18 11 37.93 9 15 62.5 9 10 52.63 HSPA1A 1 0 0 6 31785316 31785317 31893295 31893296 Frame_Shift_Del DEL AA 0 TCGA-AB-2940 4 35 NM_005345.5 p.K595fs "HMMPfam_HSP70,superfamily_Heat shock protein 70kD (HSP70) C-terminal subdomain" 0 0 0 Novel: Amino Acid -> Known AA = S579S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 61 34 35.79 45 17 27.42 245 78 24 HSPA1L 1 0 0 6 31778962 31778978 31886941 31886957 Frame_Shift_Del DEL CTCACGGCTCGCTTGTT 0 TCGA-AB-2934 6 65 NM_005527.3 p.N258fs "HMMPfam_HSP70,superfamily_SSF53067" 0 0 0 Novel: Amino Acid -> Known AA = E246Q (1) P438P (1) E516Q (1) T224N (1) E270D (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 132 47 26.26 24 6 20 NA NA NA HTN3 1 0 0 4 70898902 70898902 70933491 70933491 Nonsense_Mutation SNP C T TCGA-AB-2976 3 53 NM_000200.2 p.R41* NULL 0 0 0 Novel: Amino Acid -> Known AA = M13L (1) Novel: Amino Acid NA NA NA NA NA NA 9 15 62.5 12 13 52 0 0 0 HYDIN 1 0 0.01 16 70975538 70975538 69533039 69533039 Splice_Site SNP C G TCGA-AB-2810 8 76 NM_032821.2 e42+1 0 0 0 0 Novel: Amino Acid -> Known AA = I595N (1) Novel: Amino Acid - OMIM Gene Name Not Found 0 0.0611 0.02 NA NA NA 269 109 28.76 301 119 28.2 0 0 0 IBTK 1 0 0 6 82910337 82910337 82967056 82967056 Nonsense_Mutation SNP A T TCGA-AB-2909 9 22 NM_015525.2 p.L960* NULL 0 0 0 Novel: Amino Acid -> Known AA = N656N (1) D769E (1) T1248T (1) C764S (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0143 0 0.0093 NA NA NA 15 16 51.61 16 18 52.94 34 13 27.08 IDH1 1 X 0.095 2 209116206 209116206 208824451 208824451 Nonsense_Mutation SNP C A TCGA-AB-2839 4 51 NM_005896.2 p.E24* "HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like" 0 0 0 Novel: Amino Acid -> Known AA = V71I (1) G123E (1) R100* (1) R132S (66) R132L (45) *0? (1) G97D (3) G131-132R (1) R132C (271) R132G (77) R49C (1) R132V (1) R132? (210) ? (1) R132H (1649) I99M (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 30 26 46.43 19 15 44.12 38 16 29.63 IFT140 1 0 0 16 1636277 1636277 1576278 1576278 Splice_Site SNP C T TCGA-AB-2837 5 66 NM_014714.3 e8-1 0 0 0 0 Novel: Amino Acid -> Known AA = R931C (1) A363A (1) R732I (1) R158W (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 120 115 48.73 104 62 36.9 3 1 25 IGSF10 2 0 0 3 151154995 151154996 152637685 152637686 Frame_Shift_Ins INS 0 TGAT TCGA-AB-2842 7 64 NM_178822.4 p.L2451fs "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" 0 0 0 Novel: Amino Acid -> Known AA = Q431R (1) Q785E (1) P1082R (1) P1215A (1) T1381I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 737 268 35.59 566 222 38.54 5 0 0 IGSF10 2 0 0 3 151154995 151154996 152637685 152637686 Frame_Shift_Ins INS 0 TGAT TCGA-AB-2936 5 60 NM_178822.4 p.L2451fs "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" 0 0 0 Novel: Amino Acid -> Known AA = Q431R (1) Q785E (1) P1082R (1) P1215A (1) T1381I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 451 122 26.18 131 52 38.24 0 0 0 IGSF22 3 0 0 11 18741652 18741652 18698228 18698228 Splice_Site SNP T A TCGA-AB-2950 4 34 NM_173588.3 e5-2 0 0 0 0 Novel: Amino Acid -> Known AA = ? (2) R7W (1) R435H (1) E474D (1) G397S (1) V124L (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.3755 0.0637 0.2756 NA NA NA 87 105 54.69 155 123 44.24 0 0 0 IGSF22 3 0 0 11 18741652 18741652 18698228 18698228 Splice_Site SNP T A TCGA-AB-2926 9 57 NM_173588.3 e5-2 0 0 0 0 Novel: Amino Acid -> Known AA = ? (2) R7W (1) R435H (1) E474D (1) G397S (1) V124L (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.3755 0.0637 0.2756 NA NA NA 68 64 48.48 117 106 47.53 NA NA NA IGSF22 3 0 0 11 18741652 18741652 18698228 18698228 Splice_Site SNP T A TCGA-AB-2914 8 22 NM_173588.3 e5-2 0 0 0 0 Novel: Amino Acid -> Known AA = ? (2) R7W (1) R435H (1) E474D (1) G397S (1) V124L (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.3755 0.0637 0.2756 NA NA NA 71 51 41.8 79 64 44.76 0 0 0 IL17RC 4 0 0 3 9962223 9962223 9937223 9937223 Nonsense_Mutation SNP C T TCGA-AB-2829 8 50 NM_153461.2 p.R243* NULL 0 0 0 Novel: Amino Acid -> Known AA = E269K (1) V575V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 38 15 27.78 13 8 38.1 NA NA NA IL17RC 4 0 0 3 9974543 9974543 9949543 9949543 Splice_Site SNP G C TCGA-AB-3002 6 68 NM_153461.2 e18+1 0 rs148575246 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = E269K (1) V575V (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.7279 0.3415 0.5954 0.02 0 0.01 2 5 71.43 8 7 46.67 0 2 100 IL17RC 4 0 0 3 9974543 9974543 9949543 9949543 Splice_Site SNP G C TCGA-AB-2952 4 60 NM_153461.2 e18+1 0 rs148575246 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = E269K (1) V575V (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.7279 0.3415 0.5954 0.02 0 0.01 5 7 58.33 3 3 50 2 6 75 IL17RC 4 0 0 3 9974543 9974543 9949543 9949543 Splice_Site SNP G C TCGA-AB-2923 6 78 NM_153461.2 e18+1 0 rs148575246 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = E269K (1) V575V (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.7279 0.3415 0.5954 0.02 0 0.01 10 7 41.18 1 4 80 NA NA NA IL18R1 2 0 0 2 102988458 102988459 102354890 102354891 Frame_Shift_Del DEL AC 0 TCGA-AB-2946 4 41 NM_003855.2 p.H117fs HMMPfam_V-set 0 0 0 Novel: Amino Acid -> Known AA = L506V (1) K383K (1) E50K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 81 41 33.61 71 35 32.71 6 0 0 IL18R1 2 0 0 2 102992366 102992366 102358798 102358798 Splice_Site SNP G T TCGA-AB-2810 8 76 NM_003855.2 e4-1 0 0 0 0 Novel: Amino Acid -> Known AA = L506V (1) K383K (1) E50K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 23 14 37.84 18 10 35.71 0 0 0 IL1F6 1 0 0 2 113763574 113763574 113480045 113480045 Nonsense_Mutation SNP C T TCGA-AB-2892 4 42 NM_014440.1 p.Q12* "HMMSmart_IL1,superfamily_Cytok_IL1_like" 0 0 0 Novel: Amino Acid -> Known AA = G80R (1) P101L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 54 57 50.89 66 59 46.83 0 0 0 IL28A 1 0 0 19 39760612 39760612 44452452 44452452 Nonsense_Mutation SNP C T TCGA-AB-2996 6 75 NM_172138.1 p.R188* NULL 0 0 0 Novel: Amino Acid -> Known AA = S67W (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0427 0 0.0279 NA NA NA 9 9 50 12 12 50 0 0 0 IL31 1 0 0 12 122657037 122657040 121222990 121222993 Frame_Shift_Del DEL AGTC 0 TCGA-AB-2820 6 76 NM_001014336.1 p.T139fs NULL 0 0 0 Novel: Amino Acid -> Known AA = S145* (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 265 85 24.29 126 32 20.25 0 0 0 INPP5B 2 0 0 1 38397630 38397631 38170217 38170218 Frame_Shift_Ins INS 0 A TCGA-AB-2845 12 37 NM_005540.2 p.N162fs NULL 0 0 0 Novel: Amino Acid -> Known AA = Y128Y (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 36 18 50 43 25 58.14 2 0 0 INPP5B 2 0 0 1 38397630 38397631 38170217 38170218 Frame_Shift_Ins INS 0 A TCGA-AB-2883 6 60 NM_005540.2 p.N162fs NULL 0 0 0 Novel: Amino Acid -> Known AA = Y128Y (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 97 27 27.27 63 28 43.08 1 0 0 INSC 1 0 0 11 15170777 15170777 15127353 15127353 Splice_Site SNP G C TCGA-AB-2871 10 51 NM_001031853.3 e2+1 0 0 0 0 Novel: Amino Acid -> Known AA = M445L (1) P5L (1) R3W (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 43 40 47.06 60 48 43.24 0 0 0 INTS4 2 0 0 11 77602725 77602725 77280373 77280373 Splice_Site SNP A T TCGA-AB-3012 5 53 NM_033547.3 e20+2 0 0 0 0 Novel: Amino Acid -> Known AA = V184V (1) N421N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 13 15 53.57 14 19 55.88 2 22 91.67 INTS4 2 0 0 11 77635920 77635920 77313568 77313568 Nonsense_Mutation SNP G A TCGA-AB-2893 4 45 NM_033547.3 p.R464* superfamily_ARM repeat 0 0 0 Novel: Amino Acid -> Known AA = V184V (1) N421N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 27 13 32.5 8 8 50 13 5 27.78 INVS 1 0 0 9 103055234 103055234 102095055 102095055 Nonsense_Mutation SNP C T TCGA-AB-2851 5 66 NM_014425.2 p.R899* NULL 0 0 0 Novel: Amino Acid -> Known AA = K279K (1) I447M (1) Match: Amino Acid 0.0142 0 0.0093 NA NA NA 62 58 48.33 68 55 44.72 8 9 52.94 IPO4 1 0 0 14 24650824 24650824 23720664 23720664 Splice_Site SNP C G TCGA-AB-2963 5 56 NM_024658.3 e28-1 0 0 0 0 Novel: Amino Acid -> Known AA = V466E (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 7 16 69.57 9 10 50 6 0 0 IQCA1 1 0 0 2 237406113 237406113 237070852 237070852 Nonsense_Mutation SNP C T TCGA-AB-2822 1 65 NM_024726.3 p.W10* NULL 0 0 0 Novel: Amino Acid -> Known AA = R231C (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.1066 0.0339 0.0841 NA NA NA 29 29 50 23 18 43.9 0 0 0 IQCD 1 0 0 12 113633458 113633459 112117841 112117842 Frame_Shift_Ins INS 0 T TCGA-AB-2845 12 37 NM_138451.1 p.K323fs NULL 0 0 0 Novel: Amino Acid -> Known AA = E189E (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 133 73 52.9 124 69 54.33 6 1 16.67 IQUB 1 0 0 7 123136861 123136861 122924097 122924097 Nonsense_Mutation SNP G A TCGA-AB-2976 3 53 NM_178827.4 p.Q375* NULL 0 0 0 Novel: Amino Acid -> Known AA = Q649* (1) R735H (1) V88F (1) A10S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 12 15 53.57 15 9 37.5 0 0 0 ITGB4 1 0 0 17 73723539 73723539 71235134 71235134 Nonsense_Mutation SNP C T TCGA-AB-2875 5 43 NM_000213.3 p.Q73* "HMMPfam_Integrin_beta,HMMSmart_SM00187,HMMSmart_SM00423" 0 0 0 Novel: Amino Acid -> Known AA = ? (1) K1142N (1) P747P (1) Novel: Amino Acid NA NA NA NA NA NA 13 12 48 14 18 56.25 10 3 23.08 ITIH2 2 0 0.005 10 7769045 7769046 7809051 7809052 Frame_Shift_Ins INS 0 C TCGA-AB-2864 5 53 NM_002216.2 p.K374fs "HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300" 0 0 0 Novel: Amino Acid -> Known AA = N96K (1) A547V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 118 54 45 178 79 44.13 NA NA NA ITIH2 2 0 0.005 10 7769045 7769046 7809051 7809052 Frame_Shift_Ins INS 0 C TCGA-AB-2805 3 77 NM_002216.2 p.K374fs "HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300" 0 0 0 Novel: Amino Acid -> Known AA = N96K (1) A547V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 60 24 39.34 150 64 42.38 1 0 0 ITIH3 1 0 0 3 52840974 52840974 52816014 52816014 Frame_Shift_Del DEL C 0 TCGA-AB-2913 4 61 NM_002217.3 p.R706fs HMMPfam_ITI_HC_C 0 0 0 Novel: Amino Acid -> Known AA = L14F (1) I323T (1) M601V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 18 13 40.62 19 8 29.63 0 0 0 ITSN2 1 0 0 2 24443936 24443936 24297440 24297440 Splice_Site SNP C T TCGA-AB-2812 12 25 NM_006277.2 e29-1 0 0 0 0 Novel: Amino Acid -> Known AA = G1310* (1) S329C (1) R1569R (1) Q1692* (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 286 346 54.66 133 189 58.33 3 2 40 JAKMIP3 1 0 0 10 133946942 133946942 133796932 133796932 Nonsense_Mutation SNP C T TCGA-AB-2850 6 72 NM_001105521.2 p.R254* NULL 0 0 0 Novel: Amino Acid -> Known AA = R795G (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.1048 0 0.0707 NA NA NA 7 6 46.15 2 5 71.43 NA NA NA JMJD7-PLA2G4B 1 0 0 15 42138865 42138865 39926157 39926157 Splice_Site SNP A G TCGA-AB-2841 5 51 NM_005090.3 e23-2 0 0 0 0 Novel: Amino Acid -> Known AA = E337-341E (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 645 693 51.79 685 633 47.95 5 97 95.1 KANK4 4 0 0 1 62733958 62733958 62506546 62506546 Splice_Site DEL C 0 TCGA-AB-3009 4 23 NM_181712.4 e4+1 0 0 0 0 Novel: Amino Acid -> Known AA = M413K (1) S253S (1) A84A (1) N669N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 33 18 34.62 38 17 30.91 0 0 0 KANK4 4 0 0 1 62733958 62733958 62506546 62506546 Splice_Site DEL C 0 TCGA-AB-2967 4 58 NM_181712.4 e4+1 0 0 0 0 Novel: Amino Acid -> Known AA = M413K (1) S253S (1) A84A (1) N669N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 33 16 32.65 35 16 30.19 0 0 0 KANK4 4 0 0 1 62733958 62733958 62506546 62506546 Splice_Site DEL C 0 TCGA-AB-2927 8 88 NM_181712.4 e4+1 0 0 0 0 Novel: Amino Acid -> Known AA = M413K (1) S253S (1) A84A (1) N669N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 59 29 32.58 21 10 31.25 0 0 0 KANK4 4 0 0 1 62733958 62733958 62506546 62506546 Splice_Site DEL C 0 TCGA-AB-2815 3 49 NM_181712.4 e4+1 0 0 0 0 Novel: Amino Acid -> Known AA = M413K (1) S253S (1) A84A (1) N669N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 56 17 22.97 36 16 29.63 0 0 0 KATNA1 1 0 0 6 149925801 149925801 149967494 149967494 Nonsense_Mutation SNP G A TCGA-AB-2965 7 60 NM_007044.2 p.R207* superfamily_P-loop containing nucleoside triphosphate hydrolases 0 0 0 Novel: Amino Acid -> Known AA = P241L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0.0013 0 0.0005 10 13 56.52 17 16 48.48 16 3 15.79 KBTBD3 1 0 0 11 105929740 105929740 105434950 105434950 Frame_Shift_Del DEL G 0 TCGA-AB-2901 10 27 NM_152433.3 p.V30fs superfamily_POZ domain 0 0 0 Novel: Amino Acid -> Known AA = F54L (1) Y340Y (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 117 58 33.14 82 35 29.91 3 0 0 KCNA10 1 0 0 1 111060597 111060597 110862120 110862120 Frame_Shift_Del DEL G 0 TCGA-AB-2844 4 63 NM_005549.2 p.F272fs superfamily_SSF81324 0 0 0 Novel: Amino Acid -> Known AA = S45F (1) R200H (1) G39R (1) S222S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 816 330 28.8 549 199 26.6 0 0 0 KCNJ16 1 0 0 17 68128754 68128754 65640349 65640349 Nonsense_Mutation SNP C T TCGA-AB-2835 7 48 NM_018658.1 p.R176* "HMMPfam_IRK,superfamily_Ig_E-set" rs189237891 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = V248I (1) Y46Y (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0 0 0.0005 249 230 47.82 185 203 52.05 0 0 0 KCNU1 3 0 0.02 8 36664952 36664952 36784110 36784110 Nonsense_Mutation SNP C T TCGA-AB-3006 10 61 NM_001031836.2 p.R214* "HMMPfam_Ion_trans,superfamily_SSF81324" 0 0 0 Novel: Amino Acid -> Known AA = A424V (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0909 0 0.0623 NA NA NA 14 23 62.16 24 15 38.46 0 0 0 KCNU1 3 0 0.02 8 36664952 36664952 36784110 36784110 Nonsense_Mutation SNP C T TCGA-AB-2964 4 57 NM_001031836.2 p.R214* "HMMPfam_Ion_trans,superfamily_SSF81324" 0 0 0 Novel: Amino Acid -> Known AA = A424V (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0909 0 0.0623 NA NA NA 13 21 61.76 20 22 51.16 NA NA NA KCNU1 3 0 0.02 8 36673204 36673207 36792362 36792365 Frame_Shift_Del DEL AAGT 0 TCGA-AB-2921 6 55 NM_001031836.2 p.K332fs superfamily_NAD(P)-bd 0 0 0 Novel: Amino Acid -> Known AA = A424V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 54 21 28 112 53 32.12 0 0 0 KCTD18 2 0 0 2 201354938 201354945 201063183 201063190 Frame_Shift_Del DEL GGCGCGGT 0 TCGA-AB-2917 4 41 NM_152387.2 p.T387fs NULL 0 0 0 Novel: Amino Acid -> Known AA = R32L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 15 5 25 29 12 29.27 NA NA NA KCTD18 2 0 0 2 201354938 201354945 201063183 201063190 Frame_Shift_Del DEL GGCGCGGT 0 TCGA-AB-2845 12 37 NM_152387.2 p.T387fs NULL 0 0 0 Novel: Amino Acid -> Known AA = R32L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 24 9 27.27 29 12 29.27 NA NA NA KIAA0556 1 0 0 16 27709663 27709663 27617164 27617164 Nonsense_Mutation SNP C T TCGA-AB-2985 3 81 NM_015202.2 p.R319* NULL 0 0 0 Novel: Amino Acid -> Known AA = Q44H (1) R1184W (1) S490S (1) V1497V (1) T522M (1) V1520V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 15 12 44.44 15 15 50 5 1 16.67 KIAA0564 2 0 0 13 42335286 42335286 41233286 41233286 Nonsense_Mutation SNP G A TCGA-AB-2980 3 50 NM_015058.1 p.R802* "HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases" 0 0 0 Novel: Amino Acid -> Known AA = T523T (1) L662L (1) E132K (1) S1450C (1) L1474L (1) Novel: Amino Acid - OMIM Gene Name Not Found 0 0.0268 0.0093 NA NA NA 7 12 63.16 27 13 32.5 13 6 31.58 KIAA0564 2 0 0 13 42361633 42361634 41259633 41259634 Frame_Shift_Ins INS 0 T TCGA-AB-2842 7 64 NM_015058.1 p.D703fs superfamily_P-loop containing nucleoside triphosphate hydrolases 0 0 0 Novel: Amino Acid -> Known AA = T523T (1) L662L (1) E132K (1) S1450C (1) L1474L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 442 140 31.32 317 120 37.85 1 0 0 KIAA0586 4 0 0 14 58899157 58899157 57968910 57968910 Frame_Shift_Del DEL G 0 TCGA-AB-2817 3 63 NM_014749.3 p.R131fs NULL 0 0 0 Novel: Amino Acid -> Known AA = D924G (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 88 37 29.6 114 47 29.19 8 0 0 KIAA0586 4 0 0 14 58899157 58899157 57968910 57968910 Frame_Shift_Del DEL G 0 TCGA-AB-2932 5 62 NM_014749.3 p.R131fs NULL 0 0 0 Novel: Amino Acid -> Known AA = D924G (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 56 16 22.22 13 4 23.53 3 0 0 KIAA0586 4 0 0 14 58899157 58899157 57968910 57968910 Frame_Shift_Del DEL G 0 TCGA-AB-2935 7 66 NM_014749.3 p.R131fs NULL 0 0 0 Novel: Amino Acid -> Known AA = D924G (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 149 56 27.32 44 21 32.31 5 0 0 KIAA0586 4 0 0 14 58923419 58923419 57993172 57993172 Splice_Site SNP G C TCGA-AB-2825 9 31 NM_014749.3 e10-1 0 0 0 0 Novel: Amino Acid -> Known AA = D924G (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 9 5 35.71 10 7 41.18 0 0 0 KIAA1614 2 0 0 1 180910180 180910180 179176803 179176803 Splice_Site SNP G C TCGA-AB-2994 9 25 NM_020950.1 e7-1 0 0 0 0 Novel: Amino Acid -> Known AA = R1061L (1) T597I (1) G285V (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0615 0 0.0425 NA NA NA 2 4 66.67 5 6 54.55 1 0 0 KIAA1614 2 0 0 1 180910180 180910180 179176803 179176803 Splice_Site SNP G C TCGA-AB-2843 10 77 NM_020950.1 e7-1 0 0 0 0 Novel: Amino Acid -> Known AA = R1061L (1) T597I (1) G285V (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0615 0 0.0425 NA NA NA 6 4 40 7 6 46.15 0 0 0 KIAA1632 1 0 0 18 43456252 43456253 41710250 41710251 Frame_Shift_Ins INS 0 A TCGA-AB-2994 9 25 NM_020964.2 p.I1999fs NULL 0 0 0 Novel: Amino Acid -> Known AA = ? (1) A1511T (1) T2113T (1) V2319V (1) S2169T (1) R2056W (1) C1865Y (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 37 17 45.95 48 26 50.98 1 0 0 KIAA1683 1 0 0.015 19 18375346 18375346 18236346 18236346 Nonsense_Mutation SNP G A TCGA-AB-2968 4 79 NM_001145304.1 p.Q1002* NULL 0 0 0 Novel: Amino Acid -> Known AA = A707V (1) Y354H (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.079 0 0.0618 NA NA NA 11 8 42.11 12 13 52 NA NA NA KIAA1755 1 0 0 20 36846760 36846760 36280174 36280174 Frame_Shift_Del DEL G 0 TCGA-AB-2850 6 72 NM_001029864.1 p.W856fs NULL 0 0 0 Novel: Amino Acid -> Known AA = E113K (1) G295G (1) M374I (1) S1167T (1) V683I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 41 16 27.59 33 15 29.41 NA NA NA KIAA1919 2 0 0 6 111587579 111587580 111694272 111694273 Frame_Shift_Ins INS 0 C TCGA-AB-2945 3 65 NM_153369.2 p.I273fs "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" 0 0 0 Novel: Amino Acid -> Known AA = F81Y (1) P381T (1) N228N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 75 28 36.36 42 16 37.21 NA NA NA KIAA1919 2 0 0 6 111587579 111587580 111694272 111694273 Frame_Shift_Ins INS 0 C TCGA-AB-2965 7 60 NM_153369.2 p.I273fs "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" 0 0 0 Novel: Amino Acid -> Known AA = F81Y (1) P381T (1) N228N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 32 14 43.75 28 17 53.12 14 0 0 KIDINS220 1 0 0.005 2 8930024 8930025 8847475 8847476 Frame_Shift_Ins INS 0 TG TCGA-AB-2817 3 63 NM_020738.2 p.L536fs HMMPfam_KAP_NTPase 0 0 0 Novel: Amino Acid -> Known AA = A287A (1) R604R (1) G1094G (1) V661V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 71 28 28.28 210 64 24.71 11 0 0 KIF16B 1 0 0 20 16359857 16359857 16307857 16307857 Frame_Shift_Del DEL A 0 TCGA-AB-2929 5 71 NM_024704.3 p.D932fs NULL 0 0 0 Novel: Amino Acid -> Known AA = T419I (1) R803L (1) R1014R (1) H1022Q (1) A90A (1) Q1057* (1) K772T (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 474 220 31.52 297 137 31.49 13 5 26.32 KIF25 1 0 0 6 168431501 168431501 168174350 168174350 Nonsense_Mutation SNP C A TCGA-AB-2830 7 64 NM_030615.2 p.C47* "HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases" 0 0 0 "Novel, but near match: Amino Acid -> Known AA for Gene = W3C (1) V46V (1)" Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 45 41 47.67 34 37 52.11 0 0 0 KIF6 1 0 0 6 39387723 39387723 39495701 39495701 Splice_Site SNP C T TCGA-AB-2874 4 59 NM_145027.4 e15+1 0 0 0 0 Novel: Amino Acid -> Known AA = A386E (2) R292H (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0285 0 0.0186 NA NA NA 207 148 41.69 300 205 40.59 0 0 0 KIF7 1 0 0 15 90189259 90189259 87990263 87990263 Splice_Site SNP T C TCGA-AB-2901 10 27 NM_198525.2 e7-2 0 0 0 0 Novel: Amino Acid -> Known AA = R141R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 176 116 39.59 187 130 40.88 0 0 0 KIR2DL3 1 0 0 19 55258839 55258839 59950651 59950651 Splice_Site SNP T A TCGA-AB-2880 7 24 NM_015868.2 e5+2 0 0 0 0 Novel: Amino Acid -> Known AA = G188S (1) P323S (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0242 0 0.0144 NA NA NA 247 168 40.38 227 201 46.96 0 0 0 KLB 1 0 0 4 39448263 39448264 39124658 39124659 Frame_Shift_Ins INS 0 CG TCGA-AB-2987 5 75 NM_175737.3 p.T639fs "HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat" 0 0 0 Novel: Amino Acid -> Known AA = S636S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 28 13 46.43 15 5 33.33 0 0 0 KLC3 1 0 0 19 45854262 45854262 50546102 50546102 Frame_Shift_Del DEL C 0 TCGA-AB-2886 3 25 NM_177417.2 p.A477fs NULL 0 0 0 Novel: Amino Acid -> Known AA = T282M (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 197 91 31.6 250 111 30.75 NA NA NA KRTAP13-1 1 0 0 21 31768461 31768470 30690332 30690341 Frame_Shift_Del DEL GCACTACCCA 0 TCGA-AB-2883 6 60 NM_181599.2 p.H20fs HMMPfam_PMG 0 0 0 Novel: Amino Acid -> Known AA = E62D (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0 0 NA 394 97 19.72 343 91 20.82 NA NA NA KRTAP27-1 1 0 0 21 31709848 31709848 30631719 30631719 Frame_Shift_Del DEL G 0 TCGA-AB-2829 8 50 NM_001077711.1 p.L47fs HMMPfam_PMG 0 0 0 Novel: Amino Acid -> Known AA = P183S (1) F151S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 226 104 30.77 556 127 18.35 NA NA NA KYNU 1 0 0 2 143676263 143676264 143392733 143392734 Frame_Shift_Ins INS 0 T TCGA-AB-2809 2 64 NM_003937.2 p.Y85fs "HMMPfam_Aminotran_5,superfamily_PLP-dependent transferases" 0 0 0 Novel: Amino Acid -> Known AA = ? (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 38 14 36.84 74 30 40 NA NA NA L1TD1 5 0 0 1 62676225 62676226 62448813 62448814 Frame_Shift_Del DEL AC 0 TCGA-AB-2868 4 77 NM_019079.4 p.H594fs NULL 0 0 0 Novel: Amino Acid -> Known AA = E441G (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 50 19 27.54 55 15 21.13 0 0 0 L1TD1 5 0 0 1 62676248 62676251 62448836 62448839 Frame_Shift_Del DEL AACT 0 TCGA-AB-2989 5 29 NM_019079.4 p.L602fs NULL 0 0 0 Novel: Amino Acid -> Known AA = E441G (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0.01 0 0.01 28 11 26.83 26 10 27.03 NA NA NA L1TD1 5 0 0 1 62676248 62676251 62448836 62448839 Frame_Shift_Del DEL AACT 0 TCGA-AB-2855 5 18 NM_019079.4 p.L602fs NULL 0 0 0 Novel: Amino Acid -> Known AA = E441G (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0.01 0 0.01 21 4 16 33 9 21.43 0 0 0 L1TD1 5 0 0 1 62676248 62676251 62448836 62448839 Frame_Shift_Del DEL AACT 0 TCGA-AB-2898 5 69 NM_019079.4 p.L602fs NULL 0 0 0 Novel: Amino Acid -> Known AA = E441G (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0.01 0 0.01 56 14 20 45 19 29.23 0 0 0 L1TD1 5 0 0 1 62676248 62676251 62448836 62448839 Frame_Shift_Del DEL AACT 0 TCGA-AB-2843 10 77 NM_019079.4 p.L602fs NULL 0 0 0 Novel: Amino Acid -> Known AA = E441G (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0.01 0 0.01 37 10 21.28 46 23 33.33 0 0 0 L3MBTL 1 0 0 20 42159462 42159462 41592876 41592876 Nonsense_Mutation SNP G A TCGA-AB-2934 6 65 NM_015478.5 p.W316* "HMMSmart_SM00561,superfamily_Tudor/PWWP/MBT" 0 0 0 Novel: Amino Acid -> Known AA = W439* (1) V641M (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0142 0.0268 0.0186 NA NA NA 35 28 44.44 13 11 44 0 8 100 LACTB2 1 0 0 8 71550822 71550823 71713376 71713377 Frame_Shift_Del DEL AG 0 TCGA-AB-2873 3 51 NM_016027.2 p.L262fs NULL 0 0 0 Novel: Amino Acid -> Known AA = Q212Q (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 29 8 21.62 45 15 24.59 7 2 22.22 LAMA2 1 0 0.005 6 129634124 129634124 129675817 129675817 Frame_Shift_Del DEL G 0 TCGA-AB-2882 8 73 NM_000426.3 p.W1098fs "HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,superfamily_ConA_like_lec_gl,superfamily_SSF57196" 0 0 0 Novel: Amino Acid -> Known AA = A1261V (1) P1160A (1) E1738K (1) A2665V (1) R369L (1) ? (1) R1366L (1) V2529I (1) E1980V (1) Novel: Amino Acid NA NA NA NA NA NA 70 29 28.71 115 59 33.52 NA NA NA LAMA3 1 0 0.005 18 21451627 21451627 19705625 19705625 Splice_Site SNP T C TCGA-AB-2946 4 41 NM_198129.1 e38+2 0 0 0 0 Novel: Amino Acid -> Known AA = C1465Y (1) N2296K (1) R200Q (1) S2164N (1) P1093P (1) R1579Q (1) I788L (1) S2220R (1) S2834I (1) Novel: Amino Acid NA NA NA NA NA NA 15 17 53.12 9 12 57.14 0 0 0 LAMA4 1 0 0 6 112575027 112575027 112681720 112681720 Nonsense_Mutation SNP G C TCGA-AB-2891 7 42 NM_001105208.1 p.S109* NULL rs138579810 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = Q331* (1) M1286I (1) R1787C (1) Y1300Y (1) S4fs* (1) R214C (1) H1451H (1) Y1384Y (1) S964S (1) Novel: Amino Acid - OMIM Gene Name Not Found 0 0.5042 0.1707 0 0.01 0.0027 59 51 46.36 33 17 33.33 0 0 0 LAMB3 4 0 0 1 209799066 209799066 207865689 207865689 Nonsense_Mutation SNP G A TCGA-AB-2919 4 54 NM_000228.2 p.R635* NULL rs121912480 unknown "OMIM-CURATED-RECORDS," Novel: Amino Acid -> Known AA = R450C (1) A957T (1) E1065* (1) R517H (1) Match: Amino Acid 0.0427 0.0268 0.0372 NA NA NA 88 77 46.67 80 60 42.86 NA NA NA LAMB3 4 0 0 1 209799066 209799066 207865689 207865689 Nonsense_Mutation SNP G A TCGA-AB-2983 5 45 NM_000228.2 p.R635* NULL rs121912480 unknown "OMIM-CURATED-RECORDS," Novel: Amino Acid -> Known AA = R450C (1) A957T (1) E1065* (1) R517H (1) Match: Amino Acid 0.0427 0.0268 0.0372 NA NA NA 20 24 53.33 10 12 54.55 0 0 0 LAMB3 4 0 0 1 209799066 209799066 207865689 207865689 Nonsense_Mutation SNP G A TCGA-AB-2867 5 66 NM_000228.2 p.R635* NULL rs121912480 unknown "OMIM-CURATED-RECORDS," Novel: Amino Acid -> Known AA = R450C (1) A957T (1) E1065* (1) R517H (1) Match: Amino Acid 0.0427 0.0268 0.0372 NA NA NA 146 139 48.6 177 180 50.42 0 0 0 LAMB3 4 0 0 1 209806480 209806480 207873103 207873103 Splice_Site SNP T C TCGA-AB-2931 9 75 NM_000228.2 e6-2 0 0 0 0 Novel: Amino Acid -> Known AA = R450C (1) A957T (1) E1065* (1) R517H (1) Novel: Amino Acid 0.0142 0 0.0093 NA NA NA 101 91 47.15 30 35 53.85 0 0 0 LAMB4 1 0 0 7 107718660 107718660 107505896 107505896 Frame_Shift_Del DEL T 0 TCGA-AB-2899 7 76 NM_007356.2 p.L663fs NULL 0 0 0 Novel: Amino Acid -> Known AA = D1219E (1) C69Y (1) P1138P (1) S185Y (1) Y1117C (1) T979T (1) V1494L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 41 9 18 51 23 31.08 0 0 0 LASS4 1 0 0 19 8320704 8320704 8226704 8226704 Splice_Site SNP A C TCGA-AB-2906 3 59 NM_024552.2 e4-2 0 0 0 0 Novel: Amino Acid -> Known AA = T282T (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 10 7 41.18 8 5 38.46 NA NA NA LGALS12 1 0 0 11 63279313 63279313 63035889 63035889 Splice_Site SNP G A TCGA-AB-2861 5 76 NM_001142535.1 e7+1 0 0 0 0 Novel: Amino Acid -> Known AA = P283S (1) I92I (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0142 0 0.0093 NA NA NA 84 55 39.57 90 69 43.12 1 0 0 LGALS3BP 1 0 0 17 76967868 76967868 74479463 74479463 Frame_Shift_Del DEL A 0 TCGA-AB-2982 3 29 NM_005567.3 p.I516fs NULL 0 0 0 Novel: Amino Acid -> Known AA = D262Y (1) T579I (1) R310K (1) A522T (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 17 7 26.92 18 8 29.63 5 0 0 LGSN 1 0 0 6 63989953 63989954 64047912 64047913 Frame_Shift_Del DEL TC 0 TCGA-AB-2823 7 61 NM_016571.2 p.R501fs superfamily_Glutamine synthetase/guanido kinase 0 0 0 Novel: Amino Acid -> Known AA = L64L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 20 10 33.33 16 5 23.81 0 0 0 LILRB1 1 0 0 19 55144138 55144138 59835950 59835950 Nonsense_Mutation SNP C G TCGA-AB-2939 9 72 NM_001081637.1 p.Y295* "HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726" 0 0 0 Novel: Amino Acid -> Known AA = L479del (1) D365N (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0855 0.0535 0.0744 0.004 0 0.0014 11 14 56 22 19 46.34 3 3 50 LINS1 1 0 0 15 101109637 101109638 98927160 98927161 Frame_Shift_Ins INS 0 A TCGA-AB-2903 8 76 NM_001040614.1 p.D693fs NULL 0 0 0 Novel: Amino Acid -> Known AA = V15L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 185 79 41.58 248 137 55.02 8 0 0 LIPJ 1 0 0 10 90351169 90351169 90341149 90341149 Frame_Shift_Del DEL A 0 TCGA-AB-2906 3 59 NM_001010939.2 p.E16fs "HMMPfam_Abhydro_lipase,superfamily_alpha/beta-Hydrolases" 0 0 0 Novel: Amino Acid -> Known AA = S292Y (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 35 16 30.77 35 18 33.33 NA NA NA LIX1L 1 0 0 1 145487468 145487468 144198825 144198825 Splice_Site SNP G C TCGA-AB-2814 4 39 NM_153713.1 e2+1 0 0 0 0 Novel: Amino Acid -> Known AA = S197S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 70 55 44 37 50 57.47 0 1 100 LMBRD1 1 0 0 6 70411362 70411362 70468083 70468083 Frame_Shift_Del DEL C 0 TCGA-AB-2923 6 78 NM_018368.3 p.N353fs HMMPfam_LMBR1 0 0 0 Novel: Amino Acid -> Known AA = S461F (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 39 9 18.75 50 17 25.37 NA NA NA LMF2 1 0 0 22 50944221 50944221 49291087 49291087 Frame_Shift_Del DEL G 0 TCGA-AB-2835 7 48 NM_033200.2 p.I242fs HMMPfam_DUF1222 0 0 0 Novel: Amino Acid -> Known AA = P43L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 31 16 33.33 45 17 26.98 60 21 25.93 LMO7 2 0 0 13 76335140 76335152 75233141 75233153 Frame_Shift_Del DEL GATCTACAGGATT 0 TCGA-AB-2927 8 88 NM_005358.5 p.D147fs "HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology" 0 0 0 Novel: Amino Acid -> Known AA = T354A (1) L451M (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 38 19 33.33 69 28 28.87 NA NA NA LMO7 2 0 0 13 76432055 76432055 75330056 75330056 Splice_Site SNP A G TCGA-AB-2929 5 71 NM_015842.2 e23-2 0 0 0 0 Novel: Amino Acid -> Known AA = T354A (1) L451M (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0142 0 0.0093 NA NA NA 209 135 39.24 226 144 38.81 0 0 0 LPA 5 0 0.005 6 160969693 160969693 160889683 160889683 Splice_Site SNP T C TCGA-AB-2890 7 69 NM_005577.2 e31-2 0 rs143431368 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = T331M (1) S1299S (1) R1614Q (1) Novel: Amino Acid 0.2564 0.214 0.2417 0.01 0.002 0.0046 97 91 47.89 95 66 40.49 0 0 0 LPA 5 0 0.005 6 160969693 160969693 160889683 160889683 Splice_Site SNP T C TCGA-AB-2914 8 22 NM_005577.2 e31-2 0 rs143431368 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = T331M (1) S1299S (1) R1614Q (1) Novel: Amino Acid 0.2564 0.214 0.2417 0.01 0.002 0.0046 42 44 51.16 76 69 47.59 0 0 0 LPA 5 0 0.005 6 160999694 160999694 160919684 160919684 Frame_Shift_Del DEL A 0 TCGA-AB-2990 7 51 NM_005577.2 p.R1445fs "HMMPfam_Kringle,HMMSmart_SM00130,superfamily_Kringle-like,PatternScan_KRINGLE_1" 0 0 0 Novel: Amino Acid -> Known AA = T331M (1) S1299S (1) R1614Q (1) Novel: Amino Acid NA NA NA NA NA NA 27 8 22.86 31 14 30.43 0 0 0 LPA 5 0 0.005 6 160999738 160999738 160919728 160919728 Splice_Site SNP T C TCGA-AB-2859 7 40 NM_005577.2 e27-2 0 0 0 0 Novel: Amino Acid -> Known AA = T331M (1) S1299S (1) R1614Q (1) Novel: Amino Acid 0 0.1736 0.0577 NA NA NA 39 41 51.25 123 104 45.81 0 0 0 LPA 5 0 0.005 6 161032593 161032593 160952583 160952583 Splice_Site SNP C T TCGA-AB-2998 3 68 NM_005577.2 e16+1 0 0 0 0 Novel: Amino Acid -> Known AA = T331M (1) S1299S (1) R1614Q (1) Novel: Amino Acid 0.0227 0 0.0139 NA NA NA 14 7 31.82 17 12 41.38 0 0 0 LPO 3 0 0 17 56329775 56329776 53684774 53684775 Frame_Shift_Ins INS 0 CCAT TCGA-AB-2893 4 45 NM_006151.2 p.G340fs "HMMPfam_An_peroxidase,superfamily_Peroxidase_super" 0 0 0 Novel: Amino Acid -> Known AA = Q296H (1) F176F (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 72 27 35.53 65 24 36.92 0 0 0 LPO 3 0 0 17 56329775 56329776 53684774 53684775 Frame_Shift_Ins INS 0 CCAT TCGA-AB-2864 5 53 NM_006151.2 p.G340fs "HMMPfam_An_peroxidase,superfamily_Peroxidase_super" 0 0 0 Novel: Amino Acid -> Known AA = Q296H (1) F176F (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 47 15 30.61 70 25 35.21 NA NA NA LPO 3 0 0 17 56329775 56329776 53684774 53684775 Frame_Shift_Ins INS 0 CCAT TCGA-AB-2882 8 73 NM_006151.2 p.G340fs "HMMPfam_An_peroxidase,superfamily_Peroxidase_super" 0 0 0 Novel: Amino Acid -> Known AA = Q296H (1) F176F (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 83 24 27.27 122 53 42.06 NA NA NA LRIT2 1 0 0 10 85984344 85984344 85974324 85974324 Nonsense_Mutation SNP G A TCGA-AB-2900 13 70 NM_001017924.2 p.Q213* "HMMSmart_LRRCT,superfamily_SSF52058" 0 0 0 Novel: Amino Acid -> Known AA = V13I (1) T510T (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 64 56 46.67 87 73 45.62 NA NA NA LRP10 1 0 0 14 23344935 23344935 22414775 22414775 Nonsense_Mutation SNP C T TCGA-AB-2870 5 76 NM_014045.3 p.R260* "HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain" 0 0 0 Novel: Amino Acid -> Known AA = G128S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 58 55 48.67 52 55 51.4 60 24 28.57 LRP4 1 0 0.005 11 46916843 46916843 46873419 46873419 Splice_Site SNP C T TCGA-AB-2937 4 35 NM_002334.3 e11-1 0 0 0 0 Novel: Amino Acid -> Known AA = A1534T (1) Novel: Amino Acid NA NA NA NA NA NA 73 76 51.01 74 78 51.32 0 0 0 LRRC14B 1 0 0 5 194842 194842 247842 247842 Nonsense_Mutation SNP C T TCGA-AB-2990 7 51 NM_001080478.1 p.R307* superfamily_RNI-like 0 0 0 Novel: Amino Acid -> Known AA = L417L (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0146 0 0.0097 NA NA NA 10 15 60 12 10 45.45 0 0 0 LRRC16A 1 0 0 6 25420357 25420357 25528336 25528336 Nonsense_Mutation SNP C T TCGA-AB-2841 5 51 NM_017640.5 p.R52* NULL 0 0 0 Novel: Amino Acid -> Known AA = ? (1) S1301Y (1) T986I (1) S1216F (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 396 375 48.58 582 483 45.35 0 0 0 LRRC16B 1 0 0 14 24525838 24525839 23595678 23595679 Frame_Shift_Del DEL CA 0 TCGA-AB-2818 11 62 NM_138360.3 p.L293fs "HMMSmart_SM00368,superfamily_RNI-like" 0 0 0 Novel: Amino Acid -> Known AA = S21R (1) A313P (1) E1248K (1) L849L (1) K726K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 91 23 20.18 45 23 33.82 0 0 0 LRRC27 2 0 0 10 134151067 134151067 134001057 134001057 Splice_Site SNP A C TCGA-AB-2847 6 53 NM_001143757.1 e2-2 0 0 0 0 Novel: Amino Acid -> Known AA = S422S (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0142 0 0.0093 NA NA NA 9 25 73.53 14 20 58.82 0 0 0 LRRC27 2 0 0 10 134151068 134151068 134001058 134001058 Splice_Site SNP G C TCGA-AB-2884 3 44 NM_001143757.1 e2-1 0 0 0 0 Novel: Amino Acid -> Known AA = S422S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 9 13 59.09 8 8 50 0 0 0 LRRC39 1 0 0 1 100626087 100626093 100398675 100398681 Frame_Shift_Del DEL GCTTGGT 0 TCGA-AB-2911 7 51 NM_144620.2 p.T50fs NULL 0 0 0 Novel: Amino Acid -> Known AA = L65L (1) F275F (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 69 10 12.66 108 12 10 NA NA NA LRRC40 1 0 0.005 1 70639322 70639322 70411910 70411910 Nonsense_Mutation SNP G A TCGA-AB-2944 4 48 NM_017768.4 p.R350* NULL 0 0 0 Novel: Amino Acid -> Known AA = L143L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 11 12 52.17 19 21 52.5 13 3 18.75 LRRK2 2 0 0 12 40645265 40645265 38931532 38931532 Splice_Site SNP A G TCGA-AB-2923 6 78 NM_198578.3 e10-2 0 0 0 0 Novel: Amino Acid -> Known AA = H2509H (1) I952T (1) S1283T (1) R1550Q (1) S1749F (1) R1651fs* (1) P2014H (1) I1192T (1) A1572T (1) E1726D (1) R1964C (1) E583D (1) E1190* (1) R1723P (1) V2163F (1) ? (1) P1446L (1) C537Y (1) Novel: Amino Acid NA NA NA NA NA NA 30 27 47.37 24 26 52 NA NA NA LRRK2 2 0 0 12 40707777 40707777 38994044 38994044 Nonsense_Mutation SNP C T TCGA-AB-2975 6 54 NM_198578.3 p.R1514* superfamily_SSF52540 0 0 0 Novel: Amino Acid -> Known AA = H2509H (1) I952T (1) S1283T (1) R1550Q (1) S1749F (1) R1651fs* (1) P2014H (1) I1192T (1) A1572T (1) E1726D (1) R1964C (1) E583D (1) E1190* (1) R1723P (1) V2163F (1) ? (1) P1446L (1) C537Y (1) Novel: Amino Acid NA NA NA NA NA NA 12 11 47.83 14 13 48.15 NA NA NA LTF 1 0 0 3 46497470 46497470 46472474 46472474 Splice_Site SNP T C TCGA-AB-2987 5 75 NM_002343.2 e4-2 0 0 0 0 Novel: Amino Acid -> Known AA = ? (1) V388E (1) K119N (1) R190C (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 9 20 68.97 13 11 45.83 0 0 0 LTK 1 0 0 15 41799440 41799441 39586732 39586733 Frame_Shift_Del DEL GG 0 TCGA-AB-2945 3 65 NM_002344.5 p.P465fs NULL 0 0 0 Novel: Amino Acid -> Known AA = ? (1) L485L (1) V480I (1) Q717K (1) A432T (1) Y616* (1) R608* (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 41 12 22.64 30 9 21.95 NA NA NA MAML3 1 0 0 4 140651823 140651823 140871273 140871273 Splice_Site SNP T C TCGA-AB-2839 4 51 NM_018717.4 e3-2 0 0 0 0 Novel: Amino Acid -> Known AA = P421R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 7 10 58.82 5 7 58.33 2 4 66.67 MAN2A2 1 0 0 15 91454649 91454649 89255653 89255653 Nonsense_Mutation SNP C T TCGA-AB-2865 6 75 NM_006122.2 p.R660* "superfamily_Gal_mut_like,HMMPfam_Glyco_hydro_38C" 0 0 0 Novel: Amino Acid -> Known AA = L310V (1) A634T (1) R444R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 44 19 30.16 31 24 43.64 82 62 42.76 MAP3K15 1 0 0 X 19392724 19392724 19302645 19302645 Nonsense_Mutation SNP G A TCGA-AB-2910 4 61 NM_001001671.3 p.R357* "HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase" 0 0 0 Novel: Amino Acid -> Known AA = R152Q (1) A778S (1) Q677R (1) R301C (1) V670L (1) L684fs* (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.018 0 0.0114 0 0 0 83 58 41.13 90 105 53.3 0 0 0 MAP9 1 0 0 4 156274375 156274375 156493825 156493825 Nonsense_Mutation SNP T A TCGA-AB-2896 4 21 NM_001039580.1 p.K500* NULL 0 0 0 Novel: Amino Acid -> Known AA = E272K (1) D325Y (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 144 51 26.15 126 124 49.01 1 1 50 MAPK4 1 0 0 18 48255553 48255554 46509551 46509552 Frame_Shift_Del DEL CT 0 TCGA-AB-2911 7 51 NM_002747.3 p.L365fs NULL 0 0 0 Novel: Amino Acid -> Known AA = P246T (1) D336N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 64 18 21.43 81 26 24.3 0 0 0 MARS 1 0 0 12 57908840 57908843 56195107 56195110 Frame_Shift_Del DEL AGGT 0 TCGA-AB-2948 4 67 NM_004990.2 p.R735fs superfamily_tRNAsyn_1a_bind 0 0 0 Novel: Amino Acid -> Known AA = Y314C (1) P249P (1) A397T (1) A657V (1) S446W (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 209 90 30.1 155 63 28.9 178 0 0 MAST4 1 0 0 5 66462423 66462424 66498179 66498180 Frame_Shift_Ins INS 0 A TCGA-AB-2858 3 75 NM_015183.2 p.R2283fs NULL 0 0 0 Novel: Amino Acid -> Known AA = E784K (1) R1865K (1) E2276* (1) D1219D (1) M545I (1) T1069T (1) L1386-1387Q (1) E1109Q (1) G1919* (1) E2288D (1) S73L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 9 3 30 13 7 53.85 11 5 41.67 MCAT 1 0 0 22 43537257 43537257 41867201 41867201 Splice_Site SNP T C TCGA-AB-2813 7 78 NM_173467.4 e2-2 0 0 0 0 Novel: Amino Acid -> Known AA = S217Y (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 78 80 50.63 42 43 50.59 0 4 66.67 MCCC2 1 0 0 5 70895589 70895589 70931345 70931345 Splice_Site DEL T 0 TCGA-AB-2946 4 41 NM_022132.4 e4+2 0 0 0 0 Novel: Amino Acid -> Known AA = ? (1) Novel: Amino Acid NA NA NA NA NA NA 50 23 30.67 65 31 31.96 55 50 40.98 MCPH1 1 0 0 8 6293568 6293568 6280976 6280976 Splice_Site SNP G C TCGA-AB-2898 5 69 NM_024596.3 e5-1 0 0 0 0 Novel: Amino Acid -> Known AA = G783R (1) Novel: Amino Acid 0.0152 0 0.0105 NA NA NA 21 14 40 28 10 26.32 2 0 0 MED23 1 0 0 6 131929202 131929202 131970895 131970895 Frame_Shift_Del DEL G 0 TCGA-AB-2891 7 42 NM_004830.2 p.R363fs NULL 0 0 0 Novel: Amino Acid -> Known AA = T1108T (1) V1360M (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 92 45 32.14 81 28 25 10 0 0 MEGF11 1 0 0.005 15 66206096 66206096 63993150 63993150 Frame_Shift_Del DEL T 0 TCGA-AB-2857 4 54 NM_032445.2 p.S897fs NULL 0 0 0 Novel: Amino Acid -> Known AA = Q577H (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 63 30 32.26 75 27 26.47 0 0 0 MEGF6 1 0 0 1 3428569 3428569 3418429 3418429 Splice_Site SNP C T TCGA-AB-3012 5 53 NM_001409.3 e8+1 0 0 0 0 Novel: Amino Acid -> Known AA = A1062A (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 6 11 64.71 6 9 60 18 37 67.27 MEGF8 1 0 0.01 19 42840969 42840969 47532809 47532809 Nonsense_Mutation SNP C T TCGA-AB-2828 5 55 NM_001410.2 p.R419* superfamily_Gal_oxid_central 0 0 0 Novel: Amino Acid -> Known AA = V218V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 181 133 42.36 44 51 53.68 5 7 58.33 MEI1 1 0 0 22 42128350 42128350 40458296 40458296 Splice_Site SNP T C TCGA-AB-2850 6 72 NM_152513.3 e10+2 0 0 0 0 Novel: Amino Acid -> Known AA = G507E (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 32 19 36.54 17 14 45.16 NA NA NA MEPE 2 0 0.005 4 88766219 88766222 88985243 88985246 Frame_Shift_Del DEL GAAA 0 TCGA-AB-2823 7 61 NM_020203.3 p.K70fs NULL 0 0 0 Novel: Amino Acid -> Known AA = N356K (1) K42R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 78 29 27.1 69 18 20.69 0 0 0 MEPE 2 0 0.005 4 88766219 88766222 88985243 88985246 Frame_Shift_Del DEL GAAA 0 TCGA-AB-2806 4 46 NM_020203.3 p.K70fs NULL 0 0 0 Novel: Amino Acid -> Known AA = N356K (1) K42R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 69 24 25.53 51 18 26.09 0 0 0 MFAP3L 1 0 0 4 170913401 170913401 171149976 171149976 Nonsense_Mutation SNP G A TCGA-AB-2863 4 63 NM_021647.6 p.R120* "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" 0 0 0 "Novel, but near match: Amino Acid -> Known AA for Gene = D119E (1)" Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 65 72 52.55 56 87 60.84 NA NA NA MGAM 2 0 0.005 7 141719064 141719064 141365533 141365533 Nonsense_Mutation SNP C A TCGA-AB-2840 4 74 NM_004668.2 p.Y131* HMMPfam_Trefoil 0 0 0 Novel: Amino Acid -> Known AA = V263M (1) K281R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 51 21 29.17 44 35 44.3 3 0 0 MGAM 2 0 0.005 7 141740594 141740594 141387063 141387063 Nonsense_Mutation SNP C T TCGA-AB-2901 10 27 NM_004668.2 p.R816* HMMPfam_Glyco_hydro_31 0 0 0 Novel: Amino Acid -> Known AA = V263M (1) K281R (1) Novel: Amino Acid - OMIM Gene Name Not Found 0 0.0306 0.01 NA NA NA 44 56 55.45 71 56 44.09 3 0 0 MGST2 1 0 0 4 140625168 140625168 140844618 140844618 Splice_Site SNP A G TCGA-AB-2907 3 69 NM_002413.3 e5-2 0 0 0 0 Novel: Amino Acid -> Known AA = N138Y (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 20 21 51.22 22 21 48.84 NA NA NA MIB1 2 0 0 18 19395673 19395673 17649671 17649671 Nonsense_Mutation SNP C T TCGA-AB-2949 3 58 NM_020774.2 p.R526* "HMMPfam_Ank,superfamily_ANK" 0 0 0 Novel: Amino Acid -> Known AA = ? (1) L523V (1) R371Q (1) E817Q (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 98 95 49.22 86 83 49.11 38 21 35.59 MIB1 2 0 0 18 19399564 19399564 17653562 17653562 Nonsense_Mutation SNP G T TCGA-AB-2864 5 53 NM_020774.2 p.G596* "HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK" 0 0 0 Novel: Amino Acid -> Known AA = ? (1) L523V (1) R371Q (1) E817Q (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 85 59 40.97 134 137 50.55 NA NA NA MKI67 1 0 0 10 129904010 129904013 129794000 129794003 Frame_Shift_Del DEL TCTC 0 TCGA-AB-2807 2 68 NM_002417.4 p.E2031fs HMMPfam_K167R 0 0 0 Novel: Amino Acid -> Known AA = L2956V (1) L887L (1) T1655I (1) P338S (1) T2268K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 857 327 27.25 544 201 26.84 45 0 0 MLKL 3 0 0 16 74709591 74709594 73267092 73267095 Frame_Shift_Del DEL TCTG 0 TCGA-AB-2861 5 76 NM_152649.2 p.D369fs "HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like)" 0 0 0 Novel: Amino Acid -> Known AA = L291P (1) F398I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 317 110 25.58 213 77 26.46 8 0 0 MLKL 3 0 0 16 74709591 74709594 73267092 73267095 Frame_Shift_Del DEL TCTG 0 TCGA-AB-2897 9 50 NM_152649.2 p.D369fs "HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like)" 0 0 0 Novel: Amino Acid -> Known AA = L291P (1) F398I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 145 50 25.64 102 38 27.14 9 0 0 MLKL 3 0 0 16 74709591 74709594 73267092 73267095 Frame_Shift_Del DEL TCTG 0 TCGA-AB-2882 8 73 NM_152649.2 p.D369fs "HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like)" 0 0 0 Novel: Amino Acid -> Known AA = L291P (1) F398I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 130 45 25.57 257 112 30.19 NA NA NA MMD2 1 0 0 7 4965150 4965150 4931676 4931676 Nonsense_Mutation SNP G A TCGA-AB-2866 9 67 NM_001100600.1 p.R21* NULL 0 0 0 Novel: Amino Acid -> Known AA = E100K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 647 468 41.94 323 257 44.23 0 0 0 MMP10 1 0 0 11 102651290 102651291 102156500 102156501 Frame_Shift_Del DEL AC 0 TCGA-AB-2836 4 35 NM_002425.2 p.C11fs NULL 0 0 0 Novel: Amino Acid -> Known AA = R462R (1) L440F (1) E142Q (1) P125S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 90 29 23.97 145 59 28.78 0 0 0 MNDA 1 0 0.005 1 158817615 158817618 157084239 157084242 Frame_Shift_Del DEL AGAA 0 TCGA-AB-2921 6 55 NM_002432.1 p.K363fs HMMPfam_HIN 0 0 0 Novel: Amino Acid -> Known AA = M404I (1) L65R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 234 103 30.56 216 89 29.18 167 0 0 MNS1 1 0 0 15 56721382 56721382 54508674 54508674 Nonsense_Mutation SNP T A TCGA-AB-2889 3 55 NM_018365.2 p.K469* NULL 0 0 0 Novel: Amino Acid -> Known AA = I474T (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 73 72 49.66 90 79 46.75 7 5 41.67 MOAP1 1 0 0 14 93650163 93650163 92719916 92719916 Nonsense_Mutation SNP C T TCGA-AB-2954 4 55 NM_022151.4 p.W142* NULL 0 0 0 Novel: Amino Acid -> Known AA = N100S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 62 47 43.12 101 99 49.25 8 9 52.94 MOGAT1 5 0 0 2 223559079 223559079 223267323 223267323 Splice_Site SNP A G TCGA-AB-2928 8 43 NM_058165.2 e4-2 0 0 0 0 Novel: Amino Acid -> Known AA = W145L (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0457 0.0334 0.0418 0 0 NA 37 25 40.32 22 19 46.34 0 0 0 MOGAT1 5 0 0 2 223559987 223559987 223268231 223268231 Frame_Shift_Del DEL G 0 TCGA-AB-2882 8 73 NM_058165.2 p.A280fs HMMPfam_DAGAT 0 0 0 Novel: Amino Acid -> Known AA = W145L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0.01 0.0041 0.01 50 26 34.21 30 12 28.57 NA NA NA MOGAT1 5 0 0 2 223559987 223559987 223268231 223268231 Frame_Shift_Del DEL G 0 TCGA-AB-2825 9 31 NM_058165.2 p.A280fs HMMPfam_DAGAT 0 0 0 Novel: Amino Acid -> Known AA = W145L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0.01 0.0041 0.01 76 35 31.53 20 7 25.93 0 0 0 MOGAT1 5 0 0 2 223559987 223559987 223268231 223268231 Frame_Shift_Del DEL G 0 TCGA-AB-2956 5 61 NM_058165.2 p.A280fs HMMPfam_DAGAT 0 0 0 Novel: Amino Acid -> Known AA = W145L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0.01 0.0041 0.01 71 22 23.4 50 21 28.77 0 0 0 MOGAT1 5 0 0 2 223559987 223559987 223268231 223268231 Frame_Shift_Del DEL G 0 TCGA-AB-2931 9 75 NM_058165.2 p.A280fs HMMPfam_DAGAT 0 0 0 Novel: Amino Acid -> Known AA = W145L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0.01 0.0041 0.01 87 31 25.62 24 12 33.33 0 0 0 MPO 1 0 0 17 56357377 56357377 53712376 53712376 Splice_Site SNP T C TCGA-AB-3012 5 53 NM_000250.1 e3-2 0 0 0 0 Novel: Amino Acid -> Known AA = R447Q (1) L463L (1) Y211Y (1) R742M (1) Novel: Amino Acid NA NA NA NA NA NA 7 7 50 7 8 53.33 3 32 88.89 MRE11A 1 0 0.005 11 94219234 94219234 93858882 93858882 Nonsense_Mutation SNP A C TCGA-AB-2949 3 58 NM_005591.3 p.L57* "HMMPfam_Metallophos,superfamily_Metallo-dependent phosphatases" 0 0 0 Novel: Amino Acid -> Known AA = F237C (1) H302Y (2) G593K (1) Novel: Amino Acid NA NA NA NA NA NA 87 71 44.94 100 88 46.81 26 12 31.58 MRPS18B 1 0 0 6 30587279 30587279 30695258 30695258 Nonsense_Mutation SNP C T TCGA-AB-2922 4 83 NM_014046.3 p.Q30* NULL 0 0 0 Novel: Amino Acid -> Known AA = G132C (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 78 64 45.07 75 61 44.85 NA NA NA MST4 1 0 0 X 131188665 131188666 131016346 131016347 Frame_Shift_Del DEL AT 0 TCGA-AB-2812 12 25 NM_016542.3 p.I17fs superfamily_Protein kinase-like (PK-like) 0 0 0 Novel: Amino Acid -> Known AA = G36W (1) A148A (1) E382K (1) I121M (1) R262L (1) L381L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0 0 0 290 124 29.74 237 93 28.1 0 0 0 MTERFD2 1 0 0 2 242039002 242039003 241687675 241687676 Frame_Shift_Ins INS 0 TA TCGA-AB-2992 8 32 NM_182501.3 p.N110fs HMMPfam_mTERF 0 0 0 Novel: Amino Acid -> Known AA = E363Q (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 36 15 40.54 38 15 38.46 24 8 25 MTMR11 1 0 0 1 149902791 149902791 148169415 148169415 Nonsense_Mutation SNP C A TCGA-AB-2825 9 31 NM_181873.3 p.E381* superfamily_SSF52799 0 0 0 Novel: Amino Acid -> Known AA = H247H (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 37 39 51.32 35 42 54.55 5 5 50 MTUS1 1 0 0.005 8 17611268 17611269 17655548 17655549 Frame_Shift_Del DEL TT 0 TCGA-AB-2974 3 67 NM_001001924.2 p.Q683fs NULL 0 0 0 Novel: Amino Acid -> Known AA = Y243Y (1) T537T (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 25 16 39.02 29 9 23.68 NA NA NA MUC16 2 0 0.025 19 9082399 9082400 8943399 8943400 Frame_Shift_Del DEL CT 0 TCGA-AB-2818 11 62 NM_024690.2 p.S3139fs NULL 0 0 0 Novel: Amino Acid -> Known AA = S1696* (1) T2215T (1) K5103N (1) V769D (1) S4547* (1) Q6158K (1) S7000C (1) A8693V (1) S1733Y (1) A1363S (1) M2821I (1) P1368P (1) E2683K (1) E4050D (1) L3262L (1) A3175fs* (1) A4167G (1) W1384C (1) R4603Q (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 72 35 32.71 121 62 33.7 0 0 0 MUC16 2 0 0.025 19 9083294 9083294 8944294 8944294 Nonsense_Mutation SNP G A TCGA-AB-2861 5 76 NM_024690.2 p.Q2841* NULL 0 0 0 Novel: Amino Acid -> Known AA = S1696* (1) T2215T (1) K5103N (1) V769D (1) S4547* (1) Q6158K (1) S7000C (1) A8693V (1) S1733Y (1) A1363S (1) M2821I (1) P1368P (1) E2683K (1) E4050D (1) L3262L (1) A3175fs* (1) A4167G (1) W1384C (1) R4603Q (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 99 84 45.9 116 93 44.5 0 0 0 MUC17 1 0 0.005 7 100684586 100684586 100471306 100471306 Nonsense_Mutation SNP G T TCGA-AB-2989 5 29 NM_001040105.1 p.E3297* NULL 0 0 0 Novel: Amino Acid -> Known AA = P1849A (1) V2859M (1) G1265V (1) S861T (3) T4100T (1) S1961P (1) L1651F (1) S131T (1) T2298T (1) G5G (1) V2546V (1) S3984Y (1) T3099S (1) E4380* (1) S3139S (1) G3513V (1) E3514* (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 15 18 54.55 17 24 57.14 NA NA NA MUC6 1 0 0.005 11 1027390 1027390 1017390 1017390 Nonsense_Mutation SNP G T TCGA-AB-2932 5 62 NM_005961.2 p.C703* superfamily_Serine proterase inhibitors 0 0 0 Novel: Amino Acid -> Known AA = T1911M (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0578 0.0546 0.0567 NA NA NA 5 8 61.54 7 4 36.36 0 1 100 MX2 1 0 0 21 42771248 42771251 41693118 41693121 Frame_Shift_Del DEL AACT 0 TCGA-AB-2900 13 70 NM_002463.1 p.T467fs HMMPfam_Dynamin_M 0 0 0 Novel: Amino Acid -> Known AA = E217D (1) S147S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 171 53 23.66 158 53 25.12 NA NA NA MYBPC2 1 0 0 19 50967684 50967685 55659496 55659497 Frame_Shift_Ins INS 0 CG TCGA-AB-2850 6 72 NM_004533.3 p.L1105fs "HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726" 0 0 0 Novel: Amino Acid -> Known AA = P730L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 107 39 35.78 21 7 33.33 NA NA NA MYCT1 1 0 0 6 153042963 153042963 153084656 153084656 Nonsense_Mutation SNP C T TCGA-AB-2821 5 64 NM_025107.2 p.R95* NULL 0 0 0 Novel: Amino Acid -> Known AA = L68H (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0285 0.0268 0.0279 NA NA NA 131 136 50.94 107 88 44.9 2 6 75 MYH13 1 0 0 17 10248641 10248641 10189366 10189366 Nonsense_Mutation SNP G A TCGA-AB-2833 7 77 NM_003802.2 p.Q488* "HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" 0 0 0 Novel: Amino Acid -> Known AA = Y195* (1) D1663D (1) G416G (1) L1084F (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0428 0 0.0279 NA NA NA 390 350 47.23 174 301 63.37 0 0 0 MYH15 1 0 0.005 3 108117483 108117483 109600173 109600173 Splice_Site SNP C G TCGA-AB-2955 4 56 NM_014981.1 e36+1 0 0 0 0 Novel: Amino Acid -> Known AA = A396A (1) K1569M (1) E85K (1) L313L (1) R1086* (1) V315I (1) V1447I (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0151 0 0.0103 NA NA NA 333 183 35.47 216 144 39.89 0 0 0 MYH2 1 0 0 17 10428563 10428563 10369288 10369288 Frame_Shift_Del DEL T 0 TCGA-AB-2892 4 42 NM_001100112.1 p.Q1547fs HMMPfam_Myosin_tail_1 0 0 0 Novel: Amino Acid -> Known AA = E1807* (1) T885M (1) Q501K (1) R445H (1) R1506* (1) ? (1) N600K (1) L393M (1) Q1634L (1) R709C (1) R1388H (1) Novel: Amino Acid NA NA NA NA NA NA 37 15 28.85 69 24 25.81 0 0 0 MYH7B 3 0 0 20 33567562 33567563 33031223 33031224 Frame_Shift_Del DEL TG 0 TCGA-AB-2897 9 50 NM_020884.3 p.V142fs "HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" 0 0 0 Novel: Amino Acid -> Known AA = I523M (1) I195M (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 130 55 29.73 167 59 26.11 0 0 0 MYH7B 3 0 0 20 33575964 33575965 33039625 33039626 Frame_Shift_Del DEL AT 0 TCGA-AB-2883 6 60 NM_020884.3 p.M538fs "HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" 0 0 0 Novel: Amino Acid -> Known AA = I523M (1) I195M (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 127 35 21.6 100 37 26.62 12 4 25 MYH7B 3 0 0 20 33575964 33575965 33039625 33039626 Frame_Shift_Del DEL AT 0 TCGA-AB-2975 6 54 NM_020884.3 p.M538fs "HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" 0 0 0 Novel: Amino Acid -> Known AA = I523M (1) I195M (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 30 10 23.81 20 9 31.03 NA NA NA MYLIP 1 0 0 6 16141920 16141920 16249899 16249899 Nonsense_Mutation SNP C T TCGA-AB-2930 6 62 NM_013262.3 p.Q115* "HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295" 0 0 0 Novel: Amino Acid -> Known AA = P225P (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 67 63 48.46 72 60 45.45 14 9 39.13 MYLK4 1 0 0 6 2685715 2685715 2630714 2630714 Splice_Site SNP A G TCGA-AB-2859 7 40 NM_001012418.3 e4+2 0 0 0 0 Novel: Amino Acid -> Known AA = A99V (1) N276S (1) E30Q (1) A78S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 164 144 46.75 292 155 34.29 0 1 50 MYO16 1 0 0.005 13 109496797 109496798 108294798 108294799 Frame_Shift_Ins INS 0 T TCGA-AB-2930 6 62 NM_015011.1 p.E382fs superfamily_P-loop containing nucleoside triphosphate hydrolases 0 0 0 Novel: Amino Acid -> Known AA = R528S (1) P338T (1) L1168H (1) I1181L (1) Y265H (1) A51A (1) R1170R (1) F1281F (1) R24H (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 174 81 45.76 144 67 45.89 0 0 0 MYO1A 1 0 0 12 57423265 57423265 55709532 55709532 Nonsense_Mutation SNP G C TCGA-AB-2998 3 68 NM_005379.2 p.S944* HMMPfam_Myosin_TH1 0 0 0 Novel: Amino Acid -> Known AA = M452V (1) R845R (1) T676T (1) R709* (1) Novel: Amino Acid NA NA NA NA NA NA 12 10 45.45 12 19 61.29 0 0 0 MYO1B 1 0 0 2 192194695 192194695 191902940 191902940 Nonsense_Mutation SNP C T TCGA-AB-2975 6 54 NM_001130158.1 p.R96* "HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" 0 0 0 Novel: Amino Acid -> Known AA = H861Y (1) V385G (1) V675M (1) N408N (1) V385I (1) A560T (1) V991I (1) W764C (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 17 14 45.16 8 15 65.22 NA NA NA MYOM3 3 0 0.01 1 24390613 24390613 24263200 24263200 Frame_Shift_Del DEL C 0 TCGA-AB-3005 4 45 NM_152372.3 p.V1191fs "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" 0 0 0 Novel: Amino Acid -> Known AA = R97* (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 26 12 31.58 41 19 30.65 0 0 0 MYOM3 3 0 0.01 1 24390613 24390613 24263200 24263200 Frame_Shift_Del DEL C 0 TCGA-AB-2804 3 30 NM_152372.3 p.V1191fs "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" 0 0 0 Novel: Amino Acid -> Known AA = R97* (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 280 111 28.03 343 148 30.08 NA NA NA MYOM3 3 0 0.01 1 24418758 24418758 24291345 24291345 Nonsense_Mutation SNP G A TCGA-AB-2984 3 38 NM_152372.3 p.R380* "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" 0 0 0 Novel: Amino Acid -> Known AA = R97* (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0604 0 0.041 NA NA NA 4 5 55.56 10 9 47.37 0 0 0 MYST3 1 X 0 8 41834751 41834751 41953908 41953908 Nonsense_Mutation SNP C A TCGA-AB-2898 5 69 NM_001099412.1 p.E380* NULL 0 0 0 Novel: Amino Acid -> Known AA = E673D (1) N456S (1) V585M (1) S525S (1) R26C (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 136 113 45.38 135 230 63.01 22 49 69.01 NACA2 1 0 0 17 59668069 59668069 57022851 57022851 Frame_Shift_Del DEL T 0 TCGA-AB-2840 4 74 NM_199290.3 p.Q158fs NULL 0 0 0 Novel: Amino Acid -> Known AA = R77W (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 412 174 29.49 669 281 29.39 577 0 0 NALCN 1 0 0.01 13 101828705 101828708 100626706 100626709 Frame_Shift_Del DEL AACA 0 TCGA-AB-2827 2 33 NM_052867.2 p.F594fs "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" 0 0 0 Novel: Amino Acid -> Known AA = C207R (1) F308L (1) R1545W (1) E625G (1) S100R (1) V96L (1) M1476I (1) D468E (3) P1236T (1) V853M (1) L1576P (1) R1498H (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 61 17 21.79 32 5 13.51 NA NA NA NBEAL1 1 0 0.005 2 203881132 203881133 203589377 203589378 Frame_Shift_Ins INS 0 A TCGA-AB-3006 10 61 NM_001114132.1 p.L10fs superfamily_ARM repeat 0 0 0 Novel: Amino Acid -> Known AA = L81F (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 22 11 42.31 25 13 48.15 3 0 0 NBPF14 1 0 0 1 148004780 148004780 146471404 146471404 Frame_Shift_Del DEL A 0 TCGA-AB-2823 7 61 NM_015383.1 p.M845fs HMMPfam_DUF1220 0 0 0 Novel: Amino Acid -> Known AA = L909F (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 287 258 46.57 176 141 44.06 0 0 0 NBPF7 1 0 0 1 120382888 120382888 120184411 120184411 Frame_Shift_Del DEL A 0 TCGA-AB-2850 6 72 NM_001047980.1 p.A207fs HMMPfam_DUF1220 0 0 0 Novel: Amino Acid -> Known AA = D273V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 65 27 29.03 100 45 30.41 NA NA NA NBR1 1 0 0 17 41361938 41361938 38717464 38717464 Frame_Shift_Del DEL C 0 TCGA-AB-2992 8 32 NM_005899.3 p.Q916fs NULL 0 0 0 Novel: Amino Acid -> Known AA = R397R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 28 16 36.36 30 13 29.55 10 0 0 NCAPD3 1 0 0 11 134037895 134037895 133543105 133543105 Nonsense_Mutation SNP G C TCGA-AB-2914 8 22 NM_015261.2 p.S1190* NULL 0 0 0 Novel: Amino Acid -> Known AA = ? (1) Y58N (1) L759L (1) E48G (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 132 147 52.69 188 209 52.64 32 11 25.58 NEBL 2 0 0 10 21134291 21134291 21174297 21174297 Frame_Shift_Del DEL A 0 TCGA-AB-2874 4 59 NM_006393.2 p.Y375fs "HMMPfam_Nebulin,HMMSmart_SM00227" 0 0 0 Novel: Amino Acid -> Known AA = R408K (1) D802D (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 115 52 30.95 132 55 29.26 0 0 0 NEBL 2 0 0 10 21177025 21177025 21217031 21217031 Splice_Site SNP C T TCGA-AB-3006 10 61 NM_006393.2 e4+1 0 0 0 0 Novel: Amino Acid -> Known AA = R408K (1) D802D (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 17 24 58.54 16 21 56.76 0 0 0 NEIL3 1 0 0 4 178262691 178262692 178499685 178499686 Frame_Shift_Del DEL GT 0 TCGA-AB-2894 6 50 NM_018248.2 p.G255fs PatternScan_ZF_FPG_1 0 0 0 Novel: Amino Acid -> Known AA = K567N (1) L549F (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 95 27 22.13 101 50 33.11 21 0 0 NEK11 1 0 0 3 130748723 130748723 132231413 132231413 Splice_Site SNP G C TCGA-AB-3006 10 61 NM_024800.4 e1+1 0 0 0 0 Novel: Amino Acid -> Known AA = E586* (1) T108M (1) D617N (1) E492K (1) L170L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 26 12 31.58 18 16 47.06 0 1 100 NEK9 1 0 0 14 75590928 75590928 74660681 74660681 Splice_Site SNP T C TCGA-AB-2948 4 67 NM_033116.4 e2-2 0 0 0 0 Novel: Amino Acid -> Known AA = V319fs* (1) P870S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 32 45 58.44 36 28 43.75 6 117 95.12 NEURL4 1 0 0.005 17 7230916 7230916 7171640 7171640 Nonsense_Mutation SNP C T TCGA-AB-2954 4 55 NM_032442.2 p.W190* NULL 0 0 0 Novel: Amino Acid -> Known AA = R366H (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 26 20 43.48 25 26 50.98 1 9 90 NGLY1 1 0 0 3 25775422 25775422 25750426 25750426 Nonsense_Mutation SNP T A TCGA-AB-2992 8 32 NM_018297.3 p.R401* superfamily_Cysteine proteinases 0 0 0 Novel: Amino Acid -> Known AA = G11C (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 16 12 42.86 12 14 53.85 42 14 25 NIN 1 X 0.005 14 51224647 51224648 50294397 50294398 Frame_Shift_Del DEL CT 0 TCGA-AB-2910 4 61 NM_020921.3 p.S1034fs NULL 0 0 0 Novel: Amino Acid -> Known AA = ? (1) R268R (1) N1328-1329V (1) E1565K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 80 24 22.86 350 130 26.8 16 0 0 NLRP13 1 0 0 19 56423863 56423864 61115675 61115676 Frame_Shift_Ins INS 0 A TCGA-AB-2915 9 73 NM_176810.2 p.R441fs NULL 0 0 0 Novel: Amino Acid -> Known AA = F299F (1) E404D (1) E726K (1) S323F (1) K686K (1) M1027I (1) E917K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 159 70 42.68 101 34 33.66 0 0 0 NLRP2 1 0 0 19 55494969 55494970 60186781 60186782 Frame_Shift_Ins INS 0 T TCGA-AB-2914 8 22 NM_017852.3 p.D636fs NULL 0 0 0 Novel: Amino Acid -> Known AA = P1050H (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 38 15 37.5 20 11 52.38 1 0 0 NLRP4 1 0 0 19 56373526 56373526 61065338 61065338 Splice_Site SNP G A TCGA-AB-2867 5 66 NM_134444.4 e4+1 0 0 0 0 Novel: Amino Acid -> Known AA = V229I (1) D410N (1) W111L (1) V609F (1) P148Q (1) R708C (1) R420Q (1) T162M (1) G442R (1) A517A (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 69 46 40 107 58 35.15 0 0 0 NOC3L 1 0 0 10 96110027 96110027 96100017 96100017 Frame_Shift_Del DEL A 0 TCGA-AB-2932 5 62 NM_022451.9 p.L324fs NULL 0 0 0 Novel: Amino Acid -> Known AA = R614H (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 168 77 31.05 136 56 28.87 3 0 0 NOX4 1 0 0 11 89185052 89185053 88824700 88824701 Frame_Shift_Del DEL AC 0 TCGA-AB-2810 8 76 NM_016931.3 p.C55fs NULL 0 0 0 Novel: Amino Acid -> Known AA = A122V (1) L50F (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 144 58 28.57 292 107 26.49 0 0 0 NPC1L1 1 0 0 7 44556885 44556885 44523410 44523410 Nonsense_Mutation SNP G A TCGA-AB-2851 5 66 NM_013389.2 p.R1097* "HMMPfam_Patched,superfamily_SSF82866" 0 0 0 Novel: Amino Acid -> Known AA = F603S (1) P1149P (1) L1045L (1) R601* (1) Novel: Amino Acid NA NA NA NA NA NA 267 212 44.17 222 220 49.66 0 0 0 NPL 1 0 0 1 182783991 182783995 181050614 181050618 Splice_Site DEL AAGGT 0 TCGA-AB-2934 6 65 NM_030769.1 e6-1 0 0 0 0 Novel: Amino Acid -> Known AA = L172L (1) G171G (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 111 38 25.5 58 9 13.43 NA NA NA NPSR1 1 0 0 7 34889181 34889181 34855706 34855706 Nonsense_Mutation SNP C T TCGA-AB-2924 4 59 NM_207172.1 p.Q344* superfamily_Family A G protein-coupled receptor-like 0 0 0 Novel: Amino Acid -> Known AA = D11H (1) F85L (1) Novel: Amino Acid NA NA NA NA NA NA 98 53 35.1 175 136 43.59 0 0 0 NPVF 2 0 0 7 25264778 25264779 25231303 25231304 Frame_Shift_Ins INS 0 C TCGA-AB-2921 6 55 NM_022150.3 p.K185fs NULL 0 0 0 Novel: Amino Acid -> Known AA = T16S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 199 67 33.67 184 65 35.14 0 0 0 NPVF 2 0 0 7 25264778 25264779 25231303 25231304 Frame_Shift_Ins INS 0 C TCGA-AB-2916 6 49 NM_022150.3 p.K185fs NULL 0 0 0 Novel: Amino Acid -> Known AA = T16S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 86 13 15.12 98 18 18.37 0 0 0 NRP2 1 0 0 2 206617557 206617557 206325802 206325802 Splice_Site SNP A T TCGA-AB-2909 9 22 NM_201266.1 e12-2 0 0 0 0 Novel: Amino Acid -> Known AA = T340T (1) R350R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 29 24 45.28 30 26 46.43 0 0 0 NSMCE2 1 0 0 8 126194425 126194425 126263607 126263607 Frame_Shift_Del DEL T 0 TCGA-AB-2936 5 60 NM_173685.2 p.S116fs NULL 0 0 0 Novel: Amino Acid -> Known AA = L27F (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 280 130 31.71 140 58 29.29 14 0 0 OAS2 3 0 0 12 113435561 113435561 111919944 111919944 Splice_Site SNP G A TCGA-AB-2812 12 25 NM_016817.2 e4+1 0 0 0 0 Novel: Amino Acid -> Known AA = S466R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 66 43 39.45 30 43 58.9 0 0 0 OAS2 3 0 0 12 113442774 113442775 111927157 111927158 Frame_Shift_Del DEL TG 0 TCGA-AB-2859 7 40 NM_016817.2 p.G406fs "HMMPfam_NTP_transf_2,PatternScan_25A_SYNTH_1,superfamily_Nucleotidyltransferase" 0 0 0 Novel: Amino Acid -> Known AA = S466R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 267 89 24.72 226 81 26.3 20 0 0 OAS2 3 0 0 12 113442774 113442775 111927157 111927158 Frame_Shift_Del DEL TG 0 TCGA-AB-2891 7 42 NM_016817.2 p.G406fs "HMMPfam_NTP_transf_2,PatternScan_25A_SYNTH_1,superfamily_Nucleotidyltransferase" 0 0 0 Novel: Amino Acid -> Known AA = S466R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 154 48 23.65 181 76 29.46 18 0 0 OBSCN 2 0 0.005 1 228553880 228553880 226620503 226620503 Nonsense_Mutation SNP G A TCGA-AB-2931 9 75 NM_001098623.1 p.W6390* "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" 0 0 0 Novel: Amino Acid -> Known AA = G850W (1) R4565Q (1) Q6295* (1) E2090K (1) R5392Q (1) Q1192E (1) W1752* (1) A1136V (1) R1792H (1) V1930M (1) A4234T (1) G3818E (1) A3394A (1) R5140H (1) R7095* (1) ? (1) A6358V (1) A5653T (1) R2665H (1) S1518R (1) S2368F (1) Novel: Amino Acid - OMIM Gene Name Not Found 0 0.0292 0.0098 NA NA NA 11 4 26.67 5 2 28.57 4 0 0 OBSCN 2 0 0.005 1 228558993 228558994 226625616 226625617 Frame_Shift_Del DEL CA 0 TCGA-AB-3006 10 61 NM_001098623.1 p.S6839fs NULL 0 0 0 Novel: Amino Acid -> Known AA = G850W (1) R4565Q (1) Q6295* (1) E2090K (1) R5392Q (1) Q1192E (1) W1752* (1) A1136V (1) R1792H (1) V1930M (1) A4234T (1) G3818E (1) A3394A (1) R5140H (1) R7095* (1) ? (1) A6358V (1) A5653T (1) R2665H (1) S1518R (1) S2368F (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 7 3 30 13 5 27.78 3 0 0 OPN4 1 0 0 10 88417867 88417867 88407847 88407847 Frame_Shift_Del DEL G 0 TCGA-AB-2860 5 60 NM_001030015.2 p.A135fs "HMMPfam_7tm_1,superfamily_SSF81321" 0 0 0 Novel: Amino Acid -> Known AA = K304N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 220 71 23.59 72 33 29.73 0 0 0 ORC4L 1 0 0 2 148695732 148695732 148412202 148412202 Nonsense_Mutation SNP T A TCGA-AB-2901 10 27 NM_002552.2 p.K369* NULL 0 0 0 Novel: Amino Acid -> Known AA = T409T (1) I66F (1) Novel: Amino Acid - OMIM Gene Name Not Found 0 0.0268 0.0093 NA NA NA 33 47 58.75 26 36 57.14 20 21 51.22 ORC5L 1 0 0 7 103807267 103807268 103594503 103594504 Frame_Shift_Del DEL GG 0 TCGA-AB-2934 6 65 NM_002553.2 p.L315fs NULL 0 0 0 Novel: Amino Acid -> Known AA = R326S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 156 56 26.29 484 214 30.44 3 0 0 OSBPL1A 2 0 0 18 21957382 21957383 20211380 20211381 Frame_Shift_Ins INS 0 AATT TCGA-AB-2808 4 23 NM_080597.2 p.C39fs superfamily_Ankyrin repeat 0 0 0 Novel: Amino Acid -> Known AA = S551T (1) C872C (1) A660T (1) T285P (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 68 27 39.71 12 0 0 2 0 0 OSBPL1A 2 0 0 18 21957382 21957383 20211380 20211381 Frame_Shift_Ins INS 0 AATT TCGA-AB-2884 3 44 NM_080597.2 p.C39fs superfamily_Ankyrin repeat 0 0 0 Novel: Amino Acid -> Known AA = S551T (1) C872C (1) A660T (1) T285P (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 62 19 30.16 35 16 45.71 5 0 0 OTUD6B 1 0 0 8 92082590 92082591 92151766 92151767 Frame_Shift_Ins INS 0 T TCGA-AB-2939 9 72 NM_016023.3 p.V24fs NULL 0 0 0 Novel: Amino Acid -> Known AA = L28L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 29 9 29.03 27 9 31.03 8 5 62.5 OVCH1 3 0 0 12 29598337 29598337 29489604 29489604 Splice_Site SNP C T TCGA-AB-2830 7 64 NM_183378.2 e23-1 0 0 0 0 Novel: Amino Acid -> Known AA = D964N (1) R862Q (1) K518I (1) V1125L (1) V102A (1) P859S (1) L109F (1) R520H (1) S379S (1) A477V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 20 26 56.52 38 26 40.62 0 0 0 OVCH1 3 0 0 12 29617570 29617570 29508837 29508837 Frame_Shift_Del DEL A 0 TCGA-AB-2927 8 88 NM_183378.2 p.I665fs "HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases" 0 0 0 Novel: Amino Acid -> Known AA = D964N (1) R862Q (1) K518I (1) V1125L (1) V102A (1) P859S (1) L109F (1) R520H (1) S379S (1) A477V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 97 48 32.88 143 62 30.1 28 13 27.08 OVCH1 3 0 0 12 29630471 29630475 29521738 29521742 Frame_Shift_Del DEL TTTGT 0 TCGA-AB-2845 12 37 NM_183378.2 p.N369fs superfamily_Spermadhesin CUB domain 0 0 0 Novel: Amino Acid -> Known AA = D964N (1) R862Q (1) K518I (1) V1125L (1) V102A (1) P859S (1) L109F (1) R520H (1) S379S (1) A477V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0.01 0.002 0.0041 69 26 26.8 142 59 29.35 NA NA NA PABPC3 1 0 0.005 13 25671814 25671814 24569814 24569814 Frame_Shift_Del DEL C 0 TCGA-AB-2896 4 21 NM_030979.2 p.A493fs superfamily_PABC (PABP) domain 0 0 0 Novel: Amino Acid -> Known AA = R287S (1) K444N (1) L69R (1) G234R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 105 41 27.7 90 42 31.58 0 0 0 PADI3 1 0 0 1 17596727 17596727 17469314 17469314 Splice_Site SNP G A TCGA-AB-2996 6 75 NM_016233.2 e7-1 0 0 0 0 Novel: Amino Acid -> Known AA = M180V (1) G509R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 5 5 45.45 8 7 46.67 0 0 0 PAPOLG 1 0 0 2 61021851 61021851 60875355 60875355 Nonsense_Mutation SNP C T TCGA-AB-2803 3 61 NM_022894.2 p.R666* NULL 0 0 0 Novel: Amino Acid -> Known AA = L167V (1) V433I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0 0.002 0.0005 54 58 51.79 24 19 44.19 12 7 36.84 PAQR7 1 0 0 1 26189433 26189433 26062020 26062020 Nonsense_Mutation SNP G A TCGA-AB-2872 6 42 NM_178422.4 p.R300* NULL 0 0 0 Novel: Amino Acid -> Known AA = A72A (3) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 58 71 55.04 62 56 47.46 12 12 50 PARD3B 1 0 0 2 206057983 206057984 205766228 205766229 Frame_Shift_Del DEL TG 0 TCGA-AB-2851 5 66 NM_152526.4 p.V632fs NULL 0 0 0 Novel: Amino Acid -> Known AA = Y1021* (1) H1081Q (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 185 69 26.74 255 110 29.97 0 0 0 PARP15 2 0 0 3 122334624 122334624 123817314 123817314 Splice_Site SNP A G TCGA-AB-2834 7 33 NM_001113523.1 e5-2 0 0 0 0 Novel: Amino Acid -> Known AA = S343N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 23 21 47.73 37 17 30.36 10 4 28.57 PARP15 2 0 0 3 122334705 122334705 123817395 123817395 Splice_Site SNP G A TCGA-AB-2957 4 31 NM_001113523.1 e5+1 0 0 0 0 Novel: Amino Acid -> Known AA = S343N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 106 87 45.08 95 46 32.39 NA NA NA PARP2 1 0 0.005 14 20820484 20820485 19890324 19890325 Frame_Shift_Ins INS 0 G TCGA-AB-2859 7 40 NM_005484.3 p.D207fs NULL 0 0 0 Novel: Amino Acid -> Known AA = D133A (1) D46D (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 396 148 36.91 206 86 41.55 8 0 0 PASK 1 0 0 2 242075456 242075456 241724129 241724129 Splice_Site SNP T C TCGA-AB-2847 6 53 NM_015148.2 e7-2 0 0 0 0 Novel: Amino Acid -> Known AA = R298K (1) Q1233* (1) R224C (1) T1161N (1) E11K (1) R451L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 200 73 26.74 186 223 54.39 1 3 75 PBLD 1 0 0 10 70045089 70045090 69715095 69715096 Frame_Shift_Ins INS 0 A TCGA-AB-2832 5 59 NM_001033083.1 p.Y257fs superfamily_Diaminopimelate epimerase-like 0 0 0 Novel: Amino Acid -> Known AA = A112D (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 279 163 54.88 189 91 44.17 0 0 0 PBXIP1 1 0 0 1 154924390 154924393 153191014 153191017 Frame_Shift_Del DEL GGCA 0 TCGA-AB-2900 13 70 NM_020524.2 p.L19fs NULL 0 0 0 Novel: Amino Acid -> Known AA = R165W (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 69 13 15.66 48 13 21.31 NA NA NA PCDH17 1 0 0 13 58299188 58299188 57197189 57197189 Frame_Shift_Del DEL A 0 TCGA-AB-2826 5 64 NM_001040429.2 p.P1081fs NULL 0 0 0 Novel: Amino Acid -> Known AA = E121* (1) E549E (1) P450L (1) D703N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 236 80 25.24 203 125 37.65 0 0 0 PCDHA10 1 0 0 5 140237650 140237650 140217834 140217834 Nonsense_Mutation SNP C T TCGA-AB-2904 2 65 NM_018901.2 p.Q673* HMMSmart_SM00112 0 0 0 Novel: Amino Acid -> Known AA = S431S (1) A453A (1) S614S (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.1722 0 0.1144 NA NA NA 10 12 54.55 15 8 34.78 0 0 0 PCDHA11 1 0 0 5 140250688 140250688 140230872 140230872 Nonsense_Mutation SNP C A TCGA-AB-2979 5 30 NM_018902.3 p.S667* "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like" 0 0 0 Novel: Amino Acid -> Known AA = S353S (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0143 0 0.0093 NA NA NA 7 5 41.67 14 9 39.13 0 0 0 PCDHAC1 1 0 0 5 140306532 140306532 140286716 140286716 Frame_Shift_Del DEL G 0 TCGA-AB-2928 8 43 NM_018898.3 p.A19fs superfamily_Cadherin-like 0 0 0 Novel: Amino Acid -> Known AA = S892S (1) A603A (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 56 21 26.92 44 14 24.14 0 0 0 PCDHB11 2 0 0.005 5 140579736 140579737 140559920 140559921 Frame_Shift_Ins INS 0 T TCGA-AB-2936 5 60 NM_018931.2 p.P131fs "HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin" 0 0 0 Novel: Amino Acid -> Known AA = V364M (1) L140P (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 376 161 42.15 121 47 37.6 4 0 0 PCDHB11 2 0 0.005 5 140579736 140579737 140559920 140559921 Frame_Shift_Ins INS 0 T TCGA-AB-2894 6 50 NM_018931.2 p.P131fs "HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin" 0 0 0 Novel: Amino Acid -> Known AA = V364M (1) L140P (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 212 87 40.47 114 52 44.44 0 0 0 PCDHB3 4 0 0.005 5 140481964 140481976 140462148 140462160 Frame_Shift_Del DEL CCGGGCGGCTGAG 0 TCGA-AB-2883 6 60 NM_018937.2 p.A580fs "HMMPfam_Cadherin,superfamily_Cadherin-like" 0 0 0 Novel: Amino Acid -> Known AA = F459S (1) Y751Y (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 42 8 16 37 7 15.91 NA NA NA PCDHB3 4 0 0.005 5 140481964 140481976 140462148 140462160 Frame_Shift_Del DEL CCGGGCGGCTGAG 0 TCGA-AB-2831 5 59 NM_018937.2 p.A580fs "HMMPfam_Cadherin,superfamily_Cadherin-like" 0 0 0 Novel: Amino Acid -> Known AA = F459S (1) Y751Y (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 17 3 14.29 25 4 13.79 NA NA NA PCDHB3 4 0 0.005 5 140481964 140481976 140462148 140462160 Frame_Shift_Del DEL CCGGGCGGCTGAG 0 TCGA-AB-2873 3 51 NM_018937.2 p.A580fs "HMMPfam_Cadherin,superfamily_Cadherin-like" 0 0 0 Novel: Amino Acid -> Known AA = F459S (1) Y751Y (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 51 5 8.93 29 3 9.38 NA NA NA PCDHB3 4 0 0.005 5 140481964 140481976 140462148 140462160 Frame_Shift_Del DEL CCGGGCGGCTGAG 0 TCGA-AB-2853 5 51 NM_018937.2 p.A580fs "HMMPfam_Cadherin,superfamily_Cadherin-like" 0 0 0 Novel: Amino Acid -> Known AA = F459S (1) Y751Y (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 41 18 30.51 8 0 0 NA NA NA PCDHB5 1 0 0 5 140515466 140515467 140495650 140495651 Frame_Shift_Del DEL TG 0 TCGA-AB-2992 8 32 NM_015669.2 p.F152fs "HMMPfam_Cadherin,superfamily_Cadherin" 0 0 0 Novel: Amino Acid -> Known AA = R789W (1) R202Q (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 45 21 31.82 46 16 25.81 1 0 0 PCDHGA12 1 0 0 5 140811395 140811395 140791579 140791579 Frame_Shift_Del DEL C 0 TCGA-AB-2874 4 59 NM_003735.2 p.E358fs "HMMPfam_Cadherin,superfamily_Cadherin-like" 0 0 0 Novel: Amino Acid -> Known AA = D128G (1) V895G (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 124 41 24.85 119 49 28.99 1 0 0 PCK2 1 0 0 14 24568300 24568301 23638140 23638141 Frame_Shift_Ins INS 0 A TCGA-AB-2885 3 71 NM_004563.2 p.I237fs "HMMPfam_PEPCK,superfamily_PEP carboxykinase N-terminal domain" 0 0 0 Novel: Amino Acid -> Known AA = R521H (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 238 94 39.5 192 87 44.85 7 0 0 PCNX 1 0 0 14 71413797 71413797 70483550 70483550 Nonsense_Mutation SNP C T TCGA-AB-2870 5 76 NM_014982.2 p.Q107* NULL 0 0 0 Novel: Amino Acid -> Known AA = R1065H (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 22 25 53.19 44 46 51.11 38 24 38.71 PCSK9 1 0 0 1 55523003 55523003 55295591 55295591 Splice_Site SNP G C TCGA-AB-2839 4 51 NM_174936.2 e7-1 0 0 0 0 Novel: Amino Acid -> Known AA = R167L (1) P404Q (1) Novel: Amino Acid NA NA NA NA NA NA 16 11 40.74 9 14 60.87 0 0 0 PDCD11 1 0 0 10 105198566 105198566 105188556 105188556 Splice_Site SNP G A TCGA-AB-2868 4 77 NM_014976.1 e26+1 0 0 0 0 Novel: Amino Acid -> Known AA = ? (1) H1386Y (1) P1598S (1) R177fs* (1) V1693V (1) P665S (1) R1779W (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 67 43 39.09 65 45 40.91 2 2 33.33 PDCD4 1 0 0 10 112641131 112641131 112631121 112631121 Nonsense_Mutation SNP C T TCGA-AB-2839 4 51 NM_014456.3 p.R62* NULL 0 0 0 Novel: Amino Acid -> Known AA = S76S (1) V289V (1) G120R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 38 29 43.28 28 32 53.33 89 18 16.82 PDE11A 2 0 0 2 178969133 178969133 178677379 178677379 Nonsense_Mutation SNP T A TCGA-AB-2911 7 51 NM_001077197.1 p.K20* HMMSmart_SM00065 rs148183964 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = V229I (1) A918D (1) V692V (1) A341V (1) Novel: Amino Acid 0.0152 0.9705 0.313 0 0.02 0.0046 36 37 50.68 51 90 63.83 0 0 0 PDE11A 2 0 0 2 178969170 178969171 178677416 178677417 Frame_Shift_Del DEL TC 0 TCGA-AB-2863 4 63 NM_001077197.1 p.R7fs HMMSmart_SM00065 0 0 0 Novel: Amino Acid -> Known AA = V229I (1) A918D (1) V692V (1) A341V (1) Novel: Amino Acid NA NA NA NA NA NA 144 55 27.23 149 57 27.27 NA NA NA PDPR 1 0 0 16 70154451 70154451 68711952 68711952 Nonsense_Mutation SNP G A TCGA-AB-2915 9 73 NM_017990.3 p.W19* NULL 0 0 0 Novel: Amino Acid -> Known AA = Y547F (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 69 41 36.94 50 33 39.76 21 21 50 PFAS 1 0 0 17 8159653 8159656 8100378 8100381 Frame_Shift_Del DEL TGTT 0 TCGA-AB-2823 7 61 NM_012393.2 p.F251fs superfamily_PurM N-terminal domain-like 0 0 0 Novel: Amino Acid -> Known AA = P133P (1) R1008R (1) A535V (1) E185E (1) K507N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 109 45 28.85 94 26 21.67 16 0 0 PGLYRP3 1 0 0 1 153275063 153275063 151541687 151541687 Nonsense_Mutation SNP G A TCGA-AB-2818 11 62 NM_052891.1 p.R184* "superfamily_Amidase_2,HMMSmart_PGRP" 0 0 0 Novel: Amino Acid -> Known AA = A17T (1) S229Y (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 58 56 49.12 53 71 57.26 0 0 0 PGLYRP4 1 0 0 1 153314170 153314171 151580794 151580795 Frame_Shift_Ins INS 0 T TCGA-AB-2987 5 75 NM_020393.2 p.Y186fs "HMMPfam_Amidase_2,HMMSmart_SM00644,superfamily_N-acetylmuramoyl-L-alanine amidase-like,HMMSmart_SM00701" 0 0 0 Novel: Amino Acid -> Known AA = T55M (1) R253C (1) T74M (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 18 8 44.44 29 17 58.62 0 0 0 PHLDB2 1 0 0 3 111603684 111603684 113086374 113086374 Nonsense_Mutation SNP C T TCGA-AB-2808 4 23 NM_001134438.1 p.R254* NULL 0 0 0 Novel: Amino Acid -> Known AA = V1197V (1) C892Y (1) E228K (1) A393A (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 98 92 48.42 4 5 55.56 0 0 0 PIGO 1 0 0 9 35095199 35095199 35085199 35085199 Nonsense_Mutation SNP G A TCGA-AB-2933 4 58 NM_032634.2 p.R122* "HMMPfam_Phosphodiest,superfamily_Alkaline phosphatase-like" 0 0 0 Novel: Amino Acid -> Known AA = A635T (1) L686M (1) R854H (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0142 0 0.0093 NA NA NA 125 112 47.26 129 143 52.57 11 5 31.25 PIK3C2A 1 0 0 11 17156691 17156694 17113267 17113270 Frame_Shift_Del DEL CAAA 0 TCGA-AB-2849 5 39 NM_002645.2 p.F621fs NULL 0 0 0 Novel: Amino Acid -> Known AA = A650V (1) M1183V (1) R1081* (1) F1206L (1) A916T (1) H400Q (1) L534L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 196 65 24.9 241 9 3.6 29 0 0 PIK3C2G 2 0 0 12 18715827 18715827 18607094 18607094 Splice_Site SNP G A TCGA-AB-2954 4 55 NM_004570.4 e25+1 0 rs187352063 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = L722S (1) T7M (1) N534N (1) I294T (1) V845V (1) Y1017Y (1) D734Y (1) Q363E (1) I565fs* (1) N1014S (1) D346N (1) D626N (1) R781H (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.3324 0.0331 0.2385 0.0026 0 0.0009 14 10 41.67 19 14 42.42 0 0 0 PIK3C2G 2 0 0 12 18747475 18747478 18638742 18638745 Frame_Shift_Del DEL AGTT 0 TCGA-AB-2981 5 35 NM_004570.4 p.V1313fs superfamily_PX domain 0 0 0 Novel: Amino Acid -> Known AA = L722S (1) T7M (1) N534N (1) I294T (1) V845V (1) Y1017Y (1) D734Y (1) Q363E (1) I565fs* (1) N1014S (1) D346N (1) D626N (1) R781H (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 41 16 27.12 19 6 24 0 0 0 PION 1 0 0 7 77011890 77011890 76849826 76849826 Splice_Site SNP C T TCGA-AB-2865 6 75 NM_017439.3 e7+1 0 0 0 0 Novel: Amino Acid -> Known AA = G305R (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0303 0 0.0208 NA NA NA 13 19 59.38 14 8 36.36 0 0 0 PITRM1 1 0 0 10 3205986 3205987 3195986 3195987 Frame_Shift_Del DEL CA 0 TCGA-AB-2950 4 34 NM_014889.2 p.C241fs superfamily_LuxS/MPP-like metallohydrolase 0 0 0 Novel: Amino Acid -> Known AA = A831A (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 196 80 28.78 156 58 27.1 3 0 0 PIWIL1 1 0 0 12 130841461 130841461 129407414 129407414 Splice_Site SNP A G TCGA-AB-2965 7 60 NM_004764.3 e12-2 0 0 0 0 Novel: Amino Acid -> Known AA = S660S (1) F211I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 20 15 42.86 23 16 41.03 0 0 0 PKDREJ 1 0 0 22 46656632 46656635 45035296 45035299 Frame_Shift_Del DEL ACAT 0 TCGA-AB-2944 4 48 NM_006071.1 p.Y862fs NULL 0 0 0 Novel: Amino Acid -> Known AA = F1697F (1) T1875I (1) N1385S (1) A669G (1) E867Q (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 53 23 30.26 55 28 33.73 1 0 0 PKHD1L1 7 0 0.01 8 110416931 110416931 110486107 110486107 Nonsense_Mutation SNP C T TCGA-AB-3012 5 53 NM_177531.4 p.Q508* NULL 0 0 0 Novel: Amino Acid -> Known AA = G1861G (1) S2858S (1) I2033L (1) G1356A (1) V1277M (1) C2442C (1) F1357F (1) L3404* (1) L3904fs* (1) Y985Y (1) Q4100Q (1) S1483S (1) R4073T (1) C1884Y (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 22 21 48.84 14 16 53.33 0 0 0 PKHD1L1 7 0 0.01 8 110439386 110439386 110508562 110508562 Splice_Site SNP G T TCGA-AB-2969 3 55 NM_177531.4 e25+1 0 0 0 0 Novel: Amino Acid -> Known AA = G1861G (1) S2858S (1) I2033L (1) G1356A (1) V1277M (1) C2442C (1) F1357F (1) L3404* (1) L3904fs* (1) Y985Y (1) Q4100Q (1) S1483S (1) R4073T (1) C1884Y (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0303 0 0.0208 NA NA NA 24 17 41.46 20 9 31.03 0 0 0 PKHD1L1 7 0 0.01 8 110442198 110442198 110511374 110511374 Frame_Shift_Del DEL C 0 TCGA-AB-2826 5 64 NM_177531.4 p.S1054fs NULL 0 0 0 Novel: Amino Acid -> Known AA = G1861G (1) S2858S (1) I2033L (1) G1356A (1) V1277M (1) C2442C (1) F1357F (1) L3404* (1) L3904fs* (1) Y985Y (1) Q4100Q (1) S1483S (1) R4073T (1) C1884Y (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 126 65 34.03 98 13 11.71 0 0 0 PKHD1L1 7 0 0.01 8 110451128 110451128 110520304 110520304 Nonsense_Mutation SNP G T TCGA-AB-2943 3 70 NM_177531.4 p.E1255* "HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains" 0 0 0 Novel: Amino Acid -> Known AA = G1861G (1) S2858S (1) I2033L (1) G1356A (1) V1277M (1) C2442C (1) F1357F (1) L3404* (1) L3904fs* (1) Y985Y (1) Q4100Q (1) S1483S (1) R4073T (1) C1884Y (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 19 15 44.12 7 5 41.67 0 0 0 PKHD1L1 7 0 0.01 8 110460586 110460586 110529762 110529762 Frame_Shift_Del DEL C 0 TCGA-AB-2935 7 66 NM_177531.4 p.P1998fs "HMMSmart_SM00429,superfamily_E set domains" 0 0 0 Novel: Amino Acid -> Known AA = G1861G (1) S2858S (1) I2033L (1) G1356A (1) V1277M (1) C2442C (1) F1357F (1) L3404* (1) L3904fs* (1) Y985Y (1) Q4100Q (1) S1483S (1) R4073T (1) C1884Y (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 97 42 30 32 12 27.27 0 0 0 PKHD1L1 7 0 0.01 8 110464449 110464450 110533625 110533626 Frame_Shift_Ins INS 0 A TCGA-AB-2916 6 49 NM_177531.4 p.T2149fs "HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains" 0 0 0 Novel: Amino Acid -> Known AA = G1861G (1) S2858S (1) I2033L (1) G1356A (1) V1277M (1) C2442C (1) F1357F (1) L3404* (1) L3904fs* (1) Y985Y (1) Q4100Q (1) S1483S (1) R4073T (1) C1884Y (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 75 27 34.62 57 27 45 0 0 0 PKHD1L1 7 0 0.01 8 110477066 110477066 110546242 110546242 Nonsense_Mutation SNP C T TCGA-AB-2912 4 63 NM_177531.4 p.Q2669* HMMSmart_SM00710 rs72687034 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = G1861G (1) S2858S (1) I2033L (1) G1356A (1) V1277M (1) C2442C (1) F1357F (1) L3404* (1) L3904fs* (1) Y985Y (1) Q4100Q (1) S1483S (1) R4073T (1) C1884Y (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.1965 0.0329 0.145 0.004 0 0.0014 188 140 42.68 101 44 30.34 0 0 0 PKP4 1 0 0 2 159477634 159477634 159185880 159185880 Splice_Site SNP G T TCGA-AB-2982 3 29 NM_003628.3 e4+1 0 rs191936477 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = A703T (1) K171N (1) V743M (1) K790* (1) S336S (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0142 0 0.0093 0 0 0.0037 14 15 51.72 19 26 57.78 1 0 0 PLA2G4C 1 0 0.005 19 48608673 48608673 53300485 53300485 Nonsense_Mutation SNP G A TCGA-AB-2834 7 33 NM_003706.2 p.Q13* "HMMSmart_PLAc,superfamily_Acyl_Trfase/lysoPlipase" 0 0 0 Novel: Amino Acid -> Known AA = T123T (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 137 43 23.63 65 33 33.67 0 0 0 PLA2G4F 1 0 0 15 42438009 42438009 40225301 40225301 Nonsense_Mutation SNP G A TCGA-AB-2824 2 44 NM_213600.3 p.R543* "HMMPfam_PLA2_B,HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like" 0 0 0 Novel: Amino Acid -> Known AA = S308R (1) P231P (1) C675S (1) S308T (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 106 87 45.08 138 120 46.33 0 0 0 PLCD4 1 0 0 2 219497037 219497037 219205281 219205281 Splice_Site SNP T G TCGA-AB-3001 3 31 NM_032726.2 e9+2 0 0 0 0 Novel: Amino Acid -> Known AA = S521P (1) K435E (1) E525K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 14 9 39.13 23 18 43.9 0 0 0 PLD2 2 0 0 17 4711680 4711681 4658644 4658645 Frame_Shift_Del DEL AA 0 TCGA-AB-2918 6 47 NM_002663.3 p.K118fs "HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain" 0 0 0 Novel: Amino Acid -> Known AA = M538fs* (1) V191V (1) D663-667K (1) Q807E (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 218 92 29.58 47 18 27.69 NA NA NA PLD2 2 0 0 17 4717774 4717774 4664740 4664740 Nonsense_Mutation SNP G T TCGA-AB-2957 4 31 NM_002663.3 p.E358* superfamily_Phospholipase D/nuclease rs191478800 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = M538fs* (1) V191V (1) D663-667K (1) Q807E (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.057 0 0.0372 0.0013 0.002 0.0009 62 26 29.55 23 19 45.24 NA NA NA PLEK2 1 0 0 14 67857456 67857457 66927209 66927210 Frame_Shift_Del DEL TT 0 TCGA-AB-2896 4 21 NM_016445.1 p.K260fs "HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729" 0 0 0 Novel: Amino Acid -> Known AA = F121F (1) M201V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 310 103 24.94 227 90 28.39 0 0 0 PLEKHA4 1 0 0 19 49370865 49370865 54062677 54062677 Nonsense_Mutation SNP G A TCGA-AB-2877 9 60 NM_020904.2 p.R5* NULL 0 0 0 Novel: Amino Acid -> Known AA = P583P (1) G459D (1) G642E (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0143 0 0.0093 NA NA NA 20 11 35.48 10 10 50 0 0 0 PLEKHG5 3 0 0.005 1 6529190 6529191 6451777 6451778 Frame_Shift_Del DEL CC 0 TCGA-AB-2911 7 51 NM_198681.2 p.E798fs NULL 0 0 0 Novel: Amino Acid -> Known AA = D634Y (1) Novel: Amino Acid NA NA NA NA NA NA 38 12 24 43 7 14 0 0 0 PLEKHG5 3 0 0.005 1 6529190 6529191 6451777 6451778 Frame_Shift_Del DEL CC 0 TCGA-AB-2871 10 51 NM_198681.2 p.E798fs NULL 0 0 0 Novel: Amino Acid -> Known AA = D634Y (1) Novel: Amino Acid NA NA NA NA NA NA 73 22 23.16 71 18 20.22 0 0 0 PLEKHG5 3 0 0.005 1 6529190 6529191 6451777 6451778 Frame_Shift_Del DEL CC 0 TCGA-AB-2847 6 53 NM_198681.2 p.E798fs NULL 0 0 0 Novel: Amino Acid -> Known AA = D634Y (1) Novel: Amino Acid NA NA NA NA NA NA 85 25 22.73 121 31 20.39 7 0 0 PML 1 X 0 15 74336839 74336839 72123892 72123892 Frame_Shift_Del DEL C 0 TCGA-AB-2859 7 40 NM_033238.2 p.I714fs NULL 0 0 0 Novel: Amino Acid -> Known AA = A273A (1) P96T (1) S117S (1) E420V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 53 26 32.5 61 31 31.96 26 8 23.53 PNMA1 1 0 0 14 74179783 74179784 73249536 73249537 Frame_Shift_Ins INS 0 C TCGA-AB-2899 7 76 NM_006029.4 p.V187fs NULL 0 0 0 Novel: Amino Acid -> Known AA = A210A (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 114 65 56.03 77 38 48.72 9 6 66.67 PNPLA6 1 0 0 19 7614996 7614996 7520996 7520996 Nonsense_Mutation SNP T A TCGA-AB-2991 3 40 NM_006702.4 p.Y565* "HMMPfam_cNMP_binding,HMMSmart_cNMP,superfamily_cNMP_binding" 0 0 0 Novel: Amino Acid -> Known AA = R514H (1) D809D (1) N1040N (1) Novel: Amino Acid NA NA NA NA NA NA 10 8 44.44 8 8 50 15 4 21.05 POGK 1 0 0 1 166816781 166816781 165083405 165083405 Nonsense_Mutation SNP G T TCGA-AB-2916 6 49 NM_017542.3 p.E104* HMMSmart_SM00349 0 0 0 Novel: Amino Acid -> Known AA = P542L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 25 22 46.81 35 30 46.15 7 12 63.16 POLE2 1 0 0.005 14 50117073 50117074 49186823 49186824 Frame_Shift_Ins INS 0 A TCGA-AB-2971 3 76 NM_002692.2 p.L469fs HMMPfam_DNA_pol_E_B 0 0 0 Novel: Amino Acid -> Known AA = R133Q (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 29 12 41.38 39 20 48.78 NA NA NA POLQ 2 0 0 3 121207510 121207516 122690200 122690206 Frame_Shift_Del DEL AATAGTA 0 TCGA-AB-2805 3 77 NM_199420.3 p.I1421fs NULL 0 0 0 Novel: Amino Acid -> Known AA = P2457A (1) I1594I (1) P746A (1) G2043S (1) P2414S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 48 14 22.58 84 33 28.21 NA NA NA POLQ 2 0 0 3 121228892 121228892 122711582 122711582 Frame_Shift_Del DEL T 0 TCGA-AB-2915 9 73 NM_199420.3 p.T604fs NULL 0 0 0 Novel: Amino Acid -> Known AA = P2457A (1) I1594I (1) P746A (1) G2043S (1) P2414S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 202 84 29.17 75 33 30.56 3 0 0 POMT2 1 0 0 14 77751386 77751386 76821139 76821139 Splice_Site SNP T C TCGA-AB-2973 4 67 NM_013382.5 e14-2 0 0 0 0 Novel: Amino Acid -> Known AA = V342V (1) Novel: Amino Acid NA NA NA NA NA NA 22 22 50 18 20 52.63 0 1 50 POT1 1 0 0 7 124481233 124481233 124268469 124268469 Splice_Site SNP C T TCGA-AB-2925 2 57 NM_015450.2 e10-1 0 0 0 0 Novel: Amino Acid -> Known AA = V285V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 92 78 45.61 51 61 54.46 0 1 50 POTEA 2 0 0 8 43152162 43152162 43271319 43271319 Splice_Site SNP G C TCGA-AB-2986 3 31 NM_001005365.2 e2-1 0 rs190399718 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = A135D (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.1294 0 0.0852 0.01 0 0.0023 11 19 63.33 18 23 56.1 0 0 0 POTEA 2 0 0 8 43155706 43155706 43274863 43274863 Nonsense_Mutation SNP C T TCGA-AB-2956 5 61 NM_001005365.2 p.R212* "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" rs182905752 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = A135D (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0143 0 0.0093 0 0 0.0009 71 55 43.31 68 77 52.74 0 0 0 PPIP5K2 1 0 0 5 102493998 102493998 102521897 102521897 Nonsense_Mutation SNP T A TCGA-AB-2969 3 55 NM_015216.2 p.C532* "HMMPfam_Acid_phosphat_A,superfamily_SSF53254" 0 0 0 Novel: Amino Acid -> Known AA = S1025N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 22 27 55.1 11 12 52.17 15 6 28.57 PPP1R3A 4 0 0.01 7 113519161 113519162 113306397 113306398 Frame_Shift_Del DEL CT 0 TCGA-AB-2991 3 40 NM_002711.3 p.Q662fs NULL 0 0 0 Novel: Amino Acid -> Known AA = S848Y (1) K972N (1) G554A (2) G433G (1) V1102I (1) P35S (1) S1059R (1) S494L (1) I284I (1) T501I (1) G413G (1) T948T (1) H882N (1) L156F (1) T286S (1) D580V (1) S87G (1) D306Y (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 25 14 35 25 9 25.71 0 0 0 PPP1R3A 4 0 0.01 7 113519161 113519162 113306397 113306398 Frame_Shift_Del DEL CT 0 TCGA-AB-2894 6 50 NM_002711.3 p.Q662fs NULL 0 0 0 Novel: Amino Acid -> Known AA = S848Y (1) K972N (1) G554A (2) G433G (1) V1102I (1) P35S (1) S1059R (1) S494L (1) I284I (1) T501I (1) G413G (1) T948T (1) H882N (1) L156F (1) T286S (1) D580V (1) S87G (1) D306Y (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 314 119 27.23 185 34 15.53 0 0 0 PPP1R3A 4 0 0.01 7 113519161 113519162 113306397 113306398 Frame_Shift_Del DEL CT 0 TCGA-AB-2897 9 50 NM_002711.3 p.Q662fs NULL 0 0 0 Novel: Amino Acid -> Known AA = S848Y (1) K972N (1) G554A (2) G433G (1) V1102I (1) P35S (1) S1059R (1) S494L (1) I284I (1) T501I (1) G413G (1) T948T (1) H882N (1) L156F (1) T286S (1) D580V (1) S87G (1) D306Y (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 288 124 29.74 182 51 21.61 0 0 0 PPP1R3A 4 0 0.01 7 113519161 113519162 113306397 113306398 Frame_Shift_Del DEL CT 0 TCGA-AB-2903 8 76 NM_002711.3 p.Q662fs NULL 0 0 0 Novel: Amino Acid -> Known AA = S848Y (1) K972N (1) G554A (2) G433G (1) V1102I (1) P35S (1) S1059R (1) S494L (1) I284I (1) T501I (1) G413G (1) T948T (1) H882N (1) L156F (1) T286S (1) D580V (1) S87G (1) D306Y (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 331 136 29 713 290 28.43 0 0 0 PPWD1 1 0 0.005 5 64881922 64881922 64917678 64917678 Nonsense_Mutation SNP C T TCGA-AB-2928 8 43 NM_015342.2 p.R571* "HMMPfam_Pro_isomerase,superfamily_CSA_PPIase" 0 0 0 Novel: Amino Acid -> Known AA = T366S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 184 152 45.24 241 234 49.26 53 64 54.7 PRAMEF12 1 0 0 1 12837330 12837334 12759917 12759921 Frame_Shift_Del DEL AGGCC 0 TCGA-AB-2854 1 51 NM_001080830.1 p.E347fs superfamily_SSF52047 0 0 0 Novel: Amino Acid -> Known AA = L331M (1) P32R (1) E344D (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 118 32 21.19 111 41 26.97 NA NA NA PRDM2 1 0 0 1 14105139 14105140 13977726 13977727 Frame_Shift_Del DEL TG 0 TCGA-AB-2811 7 81 NM_012231.4 p.D283fs NULL 0 0 0 Novel: Amino Acid -> Known AA = G898G (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 125 31 19.87 135 38 21.71 47 0 0 PRDM7 1 0 0 16 90124803 90124803 88652304 88652304 Nonsense_Mutation SNP C A TCGA-AB-2880 7 24 NM_052996.2 p.E158* NULL 0 0 0 Novel: Amino Acid -> Known AA = G43G (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.114 0 0.0744 0.0026 0 0.0009 162 165 50.46 201 116 36.59 0 0 0 PRODH 1 0 0 22 18900990 18900990 17280990 17280990 Nonsense_Mutation SNP G A TCGA-AB-3006 10 61 NM_016335.3 p.Q526* "HMMPfam_Pro_dh,superfamily_FAD-linked oxidoreductase" 0 0 0 Novel: Amino Acid -> Known AA = N488S (1) Novel: Amino Acid 0.0143 0 0.0093 NA NA NA 18 15 45.45 12 13 52 3 7 70 PRTFDC1 1 0 0 10 25231258 25231258 25271264 25271264 Splice_Site SNP C T TCGA-AB-2889 3 55 NM_020200.5 e2+1 0 0 0 0 Novel: Amino Acid -> Known AA = G125R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 185 154 45.43 235 207 46.83 0 0 0 PSG4 2 0 0 19 43699204 43699204 48391044 48391044 Nonsense_Mutation SNP C A TCGA-AB-2843 10 77 NM_002780.3 p.E311* "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" rs147584129 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = ? (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.3566 0.0535 0.2512 0.004 0 0.0014 248 206 45.37 298 263 46.88 0 0 0 PSG4 2 0 0 19 43699204 43699204 48391044 48391044 Nonsense_Mutation SNP C A TCGA-AB-2988 3 67 NM_002780.3 p.E311* "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" rs147584129 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = ? (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.3566 0.0535 0.2512 0.004 0 0.0014 43 21 32.81 17 20 54.05 NA NA NA PSG6 1 0 0 19 43420621 43420621 48112461 48112461 Nonsense_Mutation SNP C T TCGA-AB-2868 4 77 NM_002782.3 p.W28* HMMPfam_V-set 0 0 0 Novel: Amino Acid -> Known AA = R344H (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 72 53 42.4 54 67 55.37 0 0 0 PSTK 1 0 0 10 124746892 124746892 124736882 124736882 Nonsense_Mutation SNP G A TCGA-AB-2911 7 51 NM_153336.2 p.W307* HMMPfam_KTI12 0 0 0 Novel: Amino Acid -> Known AA = L26F (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 24 33 57.89 47 43 47.25 0 0 0 PTCHD2 1 0 0 1 11561653 11561653 11484240 11484240 Nonsense_Mutation SNP C T TCGA-AB-2811 7 81 NM_020780.1 p.R202* NULL 0 0 0 Novel: Amino Acid -> Known AA = R335C (1) D749D (1) Q434H (1) V1209M (1) P1484L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 3 4 57.14 9 7 43.75 0 0 0 PTGER3 1 0 0 1 71418662 71418662 71191250 71191250 Frame_Shift_Del DEL G 0 TCGA-AB-2894 6 50 NM_198718.1 p.N395fs NULL 0 0 0 Novel: Amino Acid -> Known AA = L95P (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 810 334 28.92 896 378 29.35 0 0 0 PTGFR 1 0 0 1 79002214 79002214 78774802 78774802 Nonsense_Mutation SNP C T TCGA-AB-2947 3 52 NM_000959.3 p.R308* superfamily_SSF81321 0 0 0 Novel: Amino Acid -> Known AA = L296F (1) A253V (1) H143N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 74 23 23.47 235 193 45.09 NA NA NA PYROXD1 1 0 0 12 21614951 21614954 21506218 21506221 Frame_Shift_Del DEL CTGT 0 TCGA-AB-2900 13 70 NM_024854.3 p.V298fs "HMMPfam_Pyr_redox_2,superfamily_SSF51905" 0 0 0 Novel: Amino Acid -> Known AA = C360S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 121 48 28.4 147 57 27.94 NA NA NA PZP 2 0 0.005 12 9304854 9304854 9196121 9196121 Frame_Shift_Del DEL C 0 TCGA-AB-2974 3 67 NM_002864.2 p.V1392fs "HMMPfam_A2M_recep,superfamily_Alpha-macroglobulin receptor domain" 0 0 0 Novel: Amino Acid -> Known AA = T89I (1) R1128H (1) I93M (1) V130V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 25 12 31.58 24 9 27.27 NA NA NA PZP 2 0 0.005 12 9353563 9353563 9244830 9244830 Nonsense_Mutation SNP G A TCGA-AB-2862 5 33 NM_002864.2 p.Q199* HMMPfam_A2M_N 0 0 0 Novel: Amino Acid -> Known AA = T89I (1) R1128H (1) I93M (1) V130V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 85 87 50.29 211 168 44.33 NA NA NA QRICH2 1 0 0.005 17 74300567 74300567 71812162 71812162 Nonsense_Mutation SNP C A TCGA-AB-2932 5 62 NM_032134.1 p.E46* NULL 0 0 0 Novel: Amino Acid -> Known AA = G143R (1) G769V (1) P1246L (1) G689R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 7 4 36.36 12 6 33.33 0 1 100 RAB11FIP1 1 0 0.005 8 37732460 37732460 37851618 37851618 Nonsense_Mutation SNP G A TCGA-AB-2853 5 51 NM_001002814.2 p.R399* NULL 0 0 0 Novel: Amino Acid -> Known AA = V897V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 194 180 48.13 29 29 50 11 4 26.67 RAB36 1 0 0.005 22 23503185 23503185 21833185 21833185 Nonsense_Mutation SNP C T TCGA-AB-2814 4 39 NM_004914.2 p.Q313* HMMSmart_SM00176 0 0 0 Novel: Amino Acid -> Known AA = W90* (1) P171S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 23 23 50 16 13 44.83 0 1 100 RAB3IP 1 0 0 12 70133631 70133640 68419898 68419907 Frame_Shift_Del DEL GATTAAAAAA 0 TCGA-AB-2871 10 51 NM_175623.2 p.L3fs NULL 0 0 0 "Novel, but near match: Amino Acid -> Known AA for Gene = K5T (1)" Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 58 20 25.64 75 20 21.05 NA NA NA RAB41 1 0 0 X 69504439 69504439 69421164 69421164 Frame_Shift_Del DEL G 0 TCGA-AB-2911 7 51 NM_001032726.2 p.V206fs "HMMSmart_SM00176,superfamily_P-loop containing nucleoside triphosphate hydrolases" 0 0 0 Novel: Amino Acid -> Known AA = K33E (1) V126V (2) S198S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0 0 0 203 77 27.21 285 109 27.39 0 0 0 RAD51AP2 1 0 0 2 17696868 17696869 17560349 17560350 Frame_Shift_Ins INS 0 C TCGA-AB-2903 8 76 NM_001099218.2 p.N938fs NULL 0 0 0 Novel: Amino Acid -> Known AA = P1122P (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 35 13 36.11 240 102 41.63 0 0 0 RAG1AP1 1 0 0 1 155109367 155109370 153375991 153375994 Frame_Shift_Del DEL AGTG 0 TCGA-AB-3006 10 61 NM_018845.3 p.G76fs HMMPfam_MtN3_slv 0 0 0 Novel: Amino Acid -> Known AA = W175* (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 21 11 34.38 22 10 31.25 5 0 0 RANBP17 1 X 0 5 170343550 170343553 170276155 170276158 Frame_Shift_Del DEL TTAA 0 TCGA-AB-3007 3 35 NM_022897.2 p.I307fs superfamily_ARM repeat 0 0 0 Novel: Amino Acid -> Known AA = F689F (1) D262H (1) E452E (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 22 9 29.03 21 9 29.03 0 0 0 RAPGEF4 1 0 0 2 173787029 173787029 173495275 173495275 Splice_Site SNP G A TCGA-AB-2914 8 22 NM_007023.3 e6+1 0 0 0 0 Novel: Amino Acid -> Known AA = A486V (1) P160S (1) F748F (1) V474I (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0306 0.0338 0.0316 NA NA NA 49 57 53.27 67 41 37.61 0 0 0 RBM28 1 0 0 7 127978303 127978303 127765539 127765539 Splice_Site SNP C A TCGA-AB-2948 4 67 NM_018077.2 e5+1 0 0 0 0 Novel: Amino Acid -> Known AA = K688R (1) Y363D (1) Novel: Amino Acid NA NA NA NA NA NA 55 38 40.86 38 25 39.68 0 1 100 RBM44 1 0 0.005 2 238726562 238726562 238391301 238391301 Nonsense_Mutation SNP C T TCGA-AB-2831 5 59 NM_001080504.2 p.Q335* NULL 0 0 0 Novel: Amino Acid -> Known AA = G221E (1) V902A (1) W786R (1) G13R (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0307 0 0.0213 NA NA NA 42 30 41.67 41 34 45.33 NA NA NA RDM1 1 0 0 17 34257234 34257235 31281347 31281348 Frame_Shift_Del DEL TG 0 TCGA-AB-2905 6 48 NM_145654.3 p.Q41fs NULL 0 0 0 Novel: Amino Acid -> Known AA = R143M (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 40 15 27.27 56 19 25.33 NA NA NA RECQL 1 0 0 12 21627911 21627911 21519178 21519178 Nonsense_Mutation SNP G A TCGA-AB-2897 9 50 NM_002907.3 p.R407* "HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases" 0 0 0 Novel: Amino Acid -> Known AA = N472K (1) G317G (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 30 24 44.44 34 13 27.66 16 3 15.79 REM2 1 0 0 14 23355311 23355311 22425151 22425151 Nonsense_Mutation SNP C T TCGA-AB-2926 9 57 NM_173527.2 p.R200* "HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases" rs145460263 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = ? (1) R190* (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.2231 0 0.1503 0.0013 0 0.0005 19 17 47.22 56 32 36.36 NA NA NA RG9MTD1 1 0 0 3 101283848 101283848 102766538 102766538 Nonsense_Mutation SNP C T TCGA-AB-2957 4 31 NM_017819.2 p.Q75* NULL 0 0 0 Novel: Amino Acid -> Known AA = Y262C (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 170 238 58.19 123 121 49.59 NA NA NA RGPD3 5 0 0 2 107074109 107074109 106440541 106440541 Nonsense_Mutation SNP G A TCGA-AB-2915 9 73 NM_001144013.1 p.R56* superfamily_SSF48452 rs4088190 unknown "TSC-CSHL," Novel: Amino Acid -> Known AA = S496S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 30 10 25 3 0 0 0 0 0 RGPD3 5 0 0 2 107084720 107084720 106451152 106451152 Nonsense_Mutation SNP C A TCGA-AB-2843 10 77 NM_001144013.1 p.E9* NULL 0 0 0 Novel: Amino Acid -> Known AA = S496S (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.7109 0 0.5566 NA NA NA 16 18 52.94 30 22 42.31 0 0 0 RGPD3 5 0 0 2 107084720 107084720 106451152 106451152 Nonsense_Mutation SNP C A TCGA-AB-2866 9 67 NM_001144013.1 p.E9* NULL 0 0 0 Novel: Amino Acid -> Known AA = S496S (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.7109 0 0.5566 NA NA NA 21 23 52.27 46 33 41.77 0 0 0 RGPD3 5 0 0 2 107084720 107084720 106451152 106451152 Nonsense_Mutation SNP C A TCGA-AB-2831 5 59 NM_001144013.1 p.E9* NULL 0 0 0 Novel: Amino Acid -> Known AA = S496S (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.7109 0 0.5566 NA NA NA 9 6 40 23 16 41.03 NA NA NA RGPD3 5 0 0 2 107084720 107084720 106451152 106451152 Nonsense_Mutation SNP C A TCGA-AB-2897 9 50 NM_001144013.1 p.E9* NULL 0 0 0 Novel: Amino Acid -> Known AA = S496S (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.7109 0 0.5566 NA NA NA 28 19 40.43 34 29 46.03 0 0 0 RGS14 1 0 0 5 176795871 176795871 176728477 176728477 Nonsense_Mutation SNP C T TCGA-AB-3001 3 31 NM_006480.4 p.R335* "HMMPfam_RBD,HMMSmart_SM00455,superfamily_Ubiquitin-like" 0 0 0 Novel: Amino Acid -> Known AA = A252V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 9 5 35.71 10 17 62.96 34 22 39.29 RGS9 1 0 0 17 63221165 63221165 60651627 60651627 Frame_Shift_Del DEL G 0 TCGA-AB-2900 13 70 NM_003835.3 p.T486fs NULL 0 0 0 Novel: Amino Acid -> Known AA = R569Q (1) R515Q (1) Novel: Amino Acid NA NA NA NA NA NA 360 138 27.6 310 117 27.34 NA NA NA RGSL1 1 0 0 1 182443603 182443603 180710226 180710226 Nonsense_Mutation SNP C T TCGA-AB-2818 11 62 NM_001137669.1 p.Q453* superfamily_Regulator of G-protein signaling RGS 0 0 0 Novel: Amino Acid -> Known AA = V395I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 8 9 52.94 13 10 43.48 0 0 0 RNASEL 1 0 0 1 182555468 182555471 180822091 180822094 Frame_Shift_Del DEL CTTT 0 TCGA-AB-2968 4 79 NM_021133.2 p.K158fs superfamily_Ankyrin repeat 0 0 0 Novel: Amino Acid -> Known AA = T222S (1) D687N (1) E676G (1) N463fs* (1) Novel: Amino Acid NA NA NA NA NA NA 44 11 20 41 16 28.07 NA NA NA RNASEN 1 0 0.005 5 31451686 31451686 31487443 31487443 Frame_Shift_Del DEL A 0 TCGA-AB-2983 5 45 NM_013235.4 p.L879fs superfamily_RNase III catalytic domain-like (Pfam 00636) 0 0 0 Novel: Amino Acid -> Known AA = R930T (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 46 25 35.21 22 10 31.25 11 0 0 RNF145 1 0 0 5 158588601 158588601 158521179 158521179 Frame_Shift_Del DEL T 0 TCGA-AB-2810 8 76 NM_144726.1 p.L461fs NULL 0 0 0 Novel: Amino Acid -> Known AA = I196V (1) I567I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 50 20 28.57 72 24 25 1 0 0 RNF20 1 0 0 9 104314940 104314943 103354761 103354764 Frame_Shift_Del DEL AGAG 0 TCGA-AB-2994 9 25 NM_019592.5 p.R604fs NULL 0 0 0 Novel: Amino Acid -> Known AA = E215E (1) N815K (1) N300N (1) E427D (1) E884G (1) V365G (1) P379L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 25 6 19.35 31 12 27.91 14 0 0 RNF213 1 X 0.01 17 78272124 78272124 75886719 75886719 Nonsense_Mutation SNP G A TCGA-AB-2924 4 59 NM_020954.2 p.W672* NULL 0 0 0 Novel: Amino Acid -> Known AA = L806L (1) F144L (1) P3184L (1) K741N (1) F839I (1) R2360Q (1) S3092N (1) T1014M (1) D2513N (1) N1059fs* (1) I568L (1) V2874I (1) Novel: Amino Acid NA NA NA NA NA NA 26 23 46.94 19 12 38.71 23 19 45.24 RNF31 1 0 0 14 24619996 24619996 23689836 23689836 Nonsense_Mutation SNP C T TCGA-AB-2997 6 25 NM_017999.4 p.R463* NULL 0 0 0 Novel: Amino Acid -> Known AA = R485Q (1) L398I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 8 14 63.64 3 7 70 NA NA NA RNLS 1 0 0 10 90332761 90332761 90322741 90322741 Nonsense_Mutation SNP C T TCGA-AB-2845 12 37 NM_001031709.2 p.W142* superfamily_FAD/NAD(P)-binding domain 0 0 0 Novel: Amino Acid -> Known AA = R193P (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 31 22 41.51 146 128 46.72 5 0 0 RPS6KC1 1 0 0 1 213251113 213251113 211317736 211317736 Nonsense_Mutation SNP C T TCGA-AB-2939 9 72 NM_012424.3 p.R73* "HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain" 0 0 0 Novel: Amino Acid -> Known AA = K364* (1) L554I (1) G410S (1) E1022K (1) C1003Y (1) G663A (1) L876L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 51 33 39.29 57 60 51.28 28 18 39.13 RUNDC2A 1 0 0 16 12093153 12093153 12000654 12000654 Splice_Site SNP G C TCGA-AB-2939 9 72 NM_032167.2 e2-1 0 0 0 0 Novel: Amino Acid -> Known AA = N124D (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 22 20 47.62 26 15 36.59 1 3 75 S100Z 2 0 0 5 76171302 76171302 76207058 76207058 Nonsense_Mutation SNP C T TCGA-AB-2855 5 18 NM_130772.3 p.R40* "HMMPfam_S_100,superfamily_EF-hand" rs148288662 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = I13V (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.2091 0 0.1409 0.0026 0 0.0009 78 131 62.68 135 98 42.06 69 60 46.51 S100Z 2 0 0 5 76171302 76171302 76207058 76207058 Nonsense_Mutation SNP C T TCGA-AB-2895 3 41 NM_130772.3 p.R40* "HMMPfam_S_100,superfamily_EF-hand" rs148288662 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = I13V (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.2091 0 0.1409 0.0026 0 0.0009 165 80 32.52 79 74 48.05 44 23 34.33 SAGE1 1 0 0.005 X 134988197 134988198 134815863 134815864 Frame_Shift_Ins INS 0 A TCGA-AB-2879 4 68 NM_018666.2 p.H157fs NULL 0 0 0 Novel: Amino Acid -> Known AA = R653H (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0 0 0 125 58 44.96 168 58 33.53 0 0 0 SAMD9 1 0 0 7 92733358 92733358 92571294 92571294 Nonsense_Mutation SNP G A TCGA-AB-2876 3 45 NM_017654.2 p.R685* NULL 0 0 0 Novel: Amino Acid -> Known AA = Q326* (1) Q719P (1) R1040L (1) A651S (1) K1096* (1) Novel: Amino Acid NA NA NA NA NA NA 200 158 44.13 251 249 49.8 17 6 26.09 SCEL 1 0 0.005 13 78208513 78208513 77106514 77106514 Splice_Site SNP G T TCGA-AB-3005 4 45 NM_144777.2 e28-1 0 0 0 0 Novel: Amino Acid -> Known AA = N341K (1) D236H (1) K75R (1) H361Y (1) K368R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 16 24 60 15 26 63.41 0 0 0 SDS 1 0 0 12 113830859 113830859 112315242 112315242 Nonsense_Mutation SNP G A TCGA-AB-2879 4 68 NM_006843.2 p.R292* "HMMPfam_PALP,superfamily_PyrdxlP-dep_enz_bsu" 0 0 0 Novel: Amino Acid -> Known AA = G80G (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 93 59 38.82 70 37 34.58 2 3 60 SEC13 1 0 0 3 10359779 10359779 10334779 10334779 Splice_Site SNP C G TCGA-AB-2877 9 60 NM_183352.1 e2-1 0 0 0 0 Novel: Amino Acid -> Known AA = R43H (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 28 24 46.15 33 19 36.54 6 36 85.71 SEC23IP 1 0 0 10 121685740 121685740 121675730 121675730 Splice_Site SNP G T TCGA-AB-2946 4 41 NM_007190.2 e13+1 0 0 0 0 Novel: Amino Acid -> Known AA = Q127E (1) G770R (1) C604G (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0427 0 0.0279 NA NA NA 50 70 58.33 105 105 50 4 7 63.64 SEL1L2 1 0 0.005 20 13850786 13850786 13798786 13798786 Splice_Site SNP C T TCGA-AB-2812 12 25 NM_025229.1 e13+1 0 0 0 0 Novel: Amino Acid -> Known AA = T267M (1) Novel: Amino Acid - OMIM Gene Name Not Found 0 0.0347 0.0106 NA NA NA 50 41 45.05 68 60 46.88 0 0 0 SERPINA9 4 0 0.005 14 94931042 94931042 94000795 94000795 Splice_Site SNP A G TCGA-AB-2918 6 47 NM_175739.3 e4+2 0 0 0 0 Novel: Amino Acid -> Known AA = N185S (1) T67T (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.2289 0.0341 0.1687 0 0 0.0005 117 93 44.29 84 70 45.45 NA NA NA SERPINA9 4 0 0.005 14 94931042 94931042 94000795 94000795 Splice_Site SNP A G TCGA-AB-2919 4 54 NM_175739.3 e4+2 0 0 0 0 Novel: Amino Acid -> Known AA = N185S (1) T67T (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.2289 0.0341 0.1687 0 0 0.0005 156 156 50 237 265 52.58 NA NA NA SERPINA9 4 0 0.005 14 94933713 94933713 94003466 94003466 Nonsense_Mutation SNP C T TCGA-AB-2810 8 76 NM_175739.3 p.W230* "HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins" rs143253931 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = N185S (1) T67T (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.015 0.3856 0.1329 0 0.01 0.0018 129 105 44.3 155 148 48.52 0 0 0 SERPINA9 4 0 0.005 14 94933713 94933713 94003466 94003466 Nonsense_Mutation SNP C T TCGA-AB-2891 7 42 NM_175739.3 p.W230* "HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins" rs143253931 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = N185S (1) T67T (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.015 0.3856 0.1329 0 0.01 0.0018 119 60 33.52 99 104 50.49 0 0 0 SFXN3 2 0 0 10 102796866 102796866 102786856 102786856 Frame_Shift_Del DEL G 0 TCGA-AB-2860 5 60 NM_030971.3 p.A214fs HMMPfam_Mtc 0 0 0 Novel: Amino Acid -> Known AA = ? (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 176 79 30.86 142 54 27.55 6 1 14.29 SFXN3 2 0 0 10 102796866 102796866 102786856 102786856 Frame_Shift_Del DEL G 0 TCGA-AB-2945 3 65 NM_030971.3 p.A214fs HMMPfam_Mtc 0 0 0 Novel: Amino Acid -> Known AA = ? (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 61 19 23.75 125 52 29.21 NA NA NA SGCE 1 0 0 7 94229008 94229008 94066944 94066944 Splice_Site SNP C T TCGA-AB-2924 4 59 NM_001099401.1 e8+1 0 0 0 0 Novel: Amino Acid -> Known AA = P157L (1) Novel: Amino Acid NA NA NA NA NA NA 28 27 49.09 64 39 37.86 0 0 0 SGK1 1 0 0 6 134498840 134498840 134540533 134540533 Frame_Shift_Del DEL G 0 TCGA-AB-2883 6 60 NM_001143677.1 p.R41fs NULL 0 0 0 Novel: Amino Acid -> Known AA = K152K (1) E140fs* (1) T260T (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 127 68 34.87 110 64 36.36 0 0 0 SGSM3 1 0 0 22 40802461 40802462 39132407 39132408 Frame_Shift_Ins INS 0 A TCGA-AB-2981 5 35 NM_015705.4 p.E328fs "HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p" 0 0 0 Novel: Amino Acid -> Known AA = E304K (1) E672Q (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 23 12 50 16 7 43.75 53 19 35.85 SH3PXD2B 1 0 0 5 171789874 171789874 171722479 171722479 Splice_Site SNP C A TCGA-AB-2963 5 56 NM_001017995.2 e7-1 0 0 0 0 Novel: Amino Acid -> Known AA = A272S (1) R671T (1) S725A (1) Novel: Amino Acid NA NA NA NA NA NA 8 5 38.46 15 14 48.28 0 0 0 SH3RF1 1 0 0 4 170051308 170051308 170287883 170287883 Splice_Site SNP C A TCGA-AB-2967 4 58 NM_020870.3 e5-1 0 0 0 0 Novel: Amino Acid -> Known AA = P635L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 6 14 70 20 23 53.49 0 5 100 SHARPIN 1 0 0 8 145158062 145158062 145230050 145230050 Nonsense_Mutation SNP G A TCGA-AB-2955 4 56 NM_030974.3 p.Q90* NULL 0 0 0 Novel: Amino Acid -> Known AA = A362A (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0147 0 0.0098 NA NA NA 32 30 48.39 14 8 36.36 11 4 26.67 SHPRH 1 0 0 6 146276346 146276346 146318039 146318039 Frame_Shift_Del DEL T 0 TCGA-AB-2942 4 67 NM_001042683.2 p.D38fs NULL 0 0 0 Novel: Amino Acid -> Known AA = A717T (1) V1226D (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 245 117 31.97 174 77 30.31 4 0 0 SIGLEC11 1 0 0 19 50463481 50463481 55155293 55155293 Nonsense_Mutation SNP G A TCGA-AB-2915 9 73 NM_052884.2 p.Q220* "HMMSmart_SM00409,HMMPfam_C2-set_2,superfamily_Immunoglobulin" 0 0 0 Novel: Amino Acid -> Known AA = A324A (1) A528A (1) S465A (1) P68R (1) L667L (1) H418H (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 5 9 64.29 4 0 0 2 0 0 SIRPG 1 0 0 20 1629721 1629721 1577721 1577721 Frame_Shift_Del DEL G 0 TCGA-AB-2975 6 54 NM_018556.3 p.P136fs "HMMPfam_V-set,superfamily_Immunoglobulin" 0 0 0 Novel: Amino Acid -> Known AA = W182R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 37 14 25.93 41 18 30 NA NA NA SIRT3 1 0 0 11 233378 233378 223378 223378 Frame_Shift_Del DEL G 0 TCGA-AB-2882 8 73 NM_012239.5 p.G147fs "HMMPfam_SIR2,superfamily_SSF52467" 0 0 0 Novel: Amino Acid -> Known AA = K393K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 165 59 26.34 120 48 28.57 NA NA NA SLC17A9 1 0 0 20 61588822 61588822 61059267 61059267 Nonsense_Mutation SNP C G TCGA-AB-2877 9 60 NM_022082.3 p.S96* "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" 0 0 0 Novel: Amino Acid -> Known AA = V324I (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0433 0 0.0283 NA NA NA 18 15 45.45 28 23 45.1 67 50 42.74 SLC18A1 1 0 0.005 8 20022619 20022619 20066899 20066899 Splice_Site SNP C G TCGA-AB-2909 9 22 NM_001135691.2 e8-1 0 0 0 0 Novel: Amino Acid -> Known AA = L6V (1) L192V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 35 47 57.32 82 80 49.08 0 0 0 SLC24A6 1 0 0 12 113758493 113758493 112242876 112242876 Splice_Site SNP T C TCGA-AB-2981 5 35 NM_024959.2 e5-2 0 0 0 0 Novel: Amino Acid -> Known AA = G448D (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 11 11 50 11 7 38.89 11 3 18.75 SLC25A2 2 0 0 5 140683301 140683302 140663485 140663486 Frame_Shift_Ins INS 0 T TCGA-AB-2828 5 55 NM_031947.2 p.Y44fs "superfamily_Mitoch_carrier,HMMPfam_Mito_carr" 0 0 0 Novel: Amino Acid -> Known AA = T39M (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 284 136 47.22 170 85 48.57 0 0 0 SLC25A2 2 0 0 5 140683301 140683302 140663485 140663486 Frame_Shift_Ins INS 0 T TCGA-AB-2866 9 67 NM_031947.2 p.Y44fs "superfamily_Mitoch_carrier,HMMPfam_Mito_carr" 0 0 0 Novel: Amino Acid -> Known AA = T39M (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 423 119 27.61 313 145 44.21 0 0 0 SLC26A4 1 0 0 7 107323983 107323983 107111219 107111219 Splice_Site SNP G A TCGA-AB-2978 3 61 NM_000441.1 e7+1 0 rs80338849 by-cluster "GENEREVIEWS,LMM-PCPGM," Novel: Amino Acid -> Known AA = V650V (1) S642Y (1) V359M (1) I605V (1) A437V (1) Novel: Amino Acid 0.0427 0.0268 0.0372 NA NA NA 12 17 58.62 12 13 52 0 0 0 SLC28A3 1 0 0 9 86909122 86909122 86098942 86098942 Nonsense_Mutation SNP C T TCGA-AB-2897 9 50 NM_022127.1 p.W310* HMMPfam_Gate 0 0 0 Novel: Amino Acid -> Known AA = Y488Y (1) R585C (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 186 165 46.88 149 144 49.15 5 22 81.48 SLC2A13 1 0 0 12 40441856 40441856 38728123 38728123 Nonsense_Mutation SNP C T TCGA-AB-2901 10 27 NM_052885.3 p.W238* "HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter" 0 0 0 Novel: Amino Acid -> Known AA = Y436* (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 133 73 35.44 97 88 47.57 1 1 50 SLC34A1 1 0 0 5 176812852 176812852 176745458 176745458 Splice_Site SNP G T TCGA-AB-2860 5 60 NM_003052.4 e1+1 0 0 0 0 Novel: Amino Acid -> Known AA = A263T (1) Novel: Amino Acid NA NA NA NA NA NA 33 14 29.79 13 16 55.17 0 0 0 SLC38A10 1 0 0 17 79226400 79226400 76840995 76840995 Nonsense_Mutation SNP G A TCGA-AB-2867 5 66 NM_001037984.1 p.R514* NULL 0 0 0 Novel: Amino Acid -> Known AA = D645G (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 36 23 38.98 44 17 27.87 28 10 26.32 SLC39A7 1 0 0 6 33168716 33168716 33276694 33276694 Splice_Site SNP G A TCGA-AB-2965 7 60 NM_001077516.1 e0+1 0 rs141200384 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = R164Q (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0.01 0.002 0.0046 14 13 48.15 14 10 41.67 27 35 54.69 SLC45A2 1 0 0.005 5 33947313 33947314 33983070 33983071 Frame_Shift_Del DEL CA 0 TCGA-AB-2939 9 72 NM_016180.3 p.V441fs superfamily_MFS general substrate transporter 0 0 0 Novel: Amino Acid -> Known AA = M342L (1) L226L (1) Novel: Amino Acid NA NA NA NA NA NA 281 112 28.5 184 71 27.84 0 0 0 SLC46A3 1 0 0 13 29287147 29287147 28185147 28185147 Nonsense_Mutation SNP G A TCGA-AB-2964 4 57 NM_001135919.1 p.R244* "HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter" 0 0 0 Novel: Amino Acid -> Known AA = E63D (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0427 0.0268 0.0372 NA NA NA 19 12 38.71 14 10 41.67 NA NA NA SLC4A8 1 0 0 12 51865074 51865075 50151341 50151342 Frame_Shift_Ins INS 0 TATG TCGA-AB-2825 9 31 NM_001039960.1 p.A555fs HMMPfam_HCO3_cotransp 0 0 0 Novel: Amino Acid -> Known AA = T257T (1) L667L (1) L445V (1) I942I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 160 73 45.06 358 150 41.1 3 0 0 SLC4A9 1 0 0 5 139751878 139751878 139732062 139732062 Frame_Shift_Del DEL C 0 TCGA-AB-2966 3 57 NM_031467.2 p.Q908fs NULL 0 0 0 Novel: Amino Acid -> Known AA = S663S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 17 6 26.09 24 8 24.24 0 0 0 SLC6A12 1 0 0 12 313761 313762 184022 184023 Frame_Shift_Del DEL TG 0 TCGA-AB-2855 5 18 NM_001122847.1 p.T106fs HMMPfam_SNF 0 0 0 Novel: Amino Acid -> Known AA = A73D (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 91 16 14.81 135 6 4.23 1 0 0 SLCO1B3 3 0 0 12 21008080 21008081 20899347 20899348 Frame_Shift_Ins INS 0 AATTG TCGA-AB-2935 7 66 NM_019844.2 p.D70fs "HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter" 0 0 0 Novel: Amino Acid -> Known AA = M647L (1) F620F (1) I292M (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 279 96 33.33 97 36 36.73 NA NA NA SLCO1B3 3 0 0 12 21008080 21008081 20899347 20899348 Frame_Shift_Ins INS 0 AATTG TCGA-AB-2823 7 61 NM_019844.2 p.D70fs "HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter" 0 0 0 Novel: Amino Acid -> Known AA = M647L (1) F620F (1) I292M (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 23 4 17.39 39 11 26.83 NA NA NA SLCO1B3 3 0 0 12 21028294 21028297 20919561 20919564 Frame_Shift_Del DEL AAAC 0 TCGA-AB-2969 3 55 NM_019844.2 p.K285fs "HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter" 0 0 0 Novel: Amino Acid -> Known AA = M647L (1) F620F (1) I292M (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 55 26 31.71 29 14 30.43 0 0 0 SLFN11 1 0 0 17 33680142 33680142 30704255 30704255 Nonsense_Mutation SNP G A TCGA-AB-2931 9 75 NM_001104587.1 p.R647* superfamily_P-loop containing nucleoside triphosphate hydrolases rs80209975 unknown "SEATTLESEQ," Novel: Amino Acid -> Known AA = I730I (1) D485V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 102 93 47.69 23 37 61.67 64 51 44.35 SMPDL3B 1 0 0 1 28280909 28280909 28153496 28153496 Nonsense_Mutation SNP C T TCGA-AB-2918 6 47 NM_014474.2 p.R188* "HMMPfam_Metallophos,superfamily_Metallo-dependent phosphatases" 0 0 0 Novel: Amino Acid -> Known AA = G185G (1) V44M (1) S295S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 52 41 42.71 22 28 52.83 NA NA NA SMR3B 1 0 0 4 71255478 71255479 71290067 71290068 Frame_Shift_Ins INS 0 C TCGA-AB-2938 4 76 NM_006685.3 p.P52fs NULL 0 0 0 Novel: Amino Acid -> Known AA = R58K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 158 62 38.04 243 108 42.35 0 0 0 SMTN 1 0 0 22 31492718 31492718 29822718 29822718 Splice_Site SNP G A TCGA-AB-2816 3 57 NM_134270.1 e13-1 0 0 0 0 Novel: Amino Acid -> Known AA = R419Q (1) R637Q (1) A763V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 16 18 52.94 11 5 31.25 0 0 0 SMTNL1 1 0 0 11 57313797 57313797 57070373 57070373 Nonsense_Mutation SNP C T TCGA-AB-2905 6 48 NM_001105565.1 p.R407* "HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain" rs184907637 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = E135* (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0298 0.6068 0.2197 0 0.02 0.0041 10 4 28.57 11 12 50 NA NA NA SOAT2 3 0 0 12 53497445 53497445 51783712 51783712 Splice_Site SNP T A TCGA-AB-2987 5 75 NM_003578.3 e1+2 0 0 0 0 Novel: Amino Acid -> Known AA = D154H (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.1526 0.0325 0.1115 NA NA NA 9 7 41.18 4 1 20 0 0 0 SOAT2 3 0 0 12 53497445 53497445 51783712 51783712 Splice_Site SNP T A TCGA-AB-3009 4 23 NM_003578.3 e1+2 0 0 0 0 Novel: Amino Acid -> Known AA = D154H (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.1526 0.0325 0.1115 NA NA NA 6 5 41.67 10 9 42.86 0 0 0 SOAT2 3 0 0 12 53514605 53514606 51800872 51800873 Frame_Shift_Ins INS 0 T TCGA-AB-2832 5 59 NM_003578.3 p.H360fs HMMPfam_MBOAT 0 0 0 Novel: Amino Acid -> Known AA = D154H (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 644 136 20.86 380 182 46.08 0 0 0 SOSTDC1 2 0 0 7 16502202 16502202 16468727 16468727 Frame_Shift_Del DEL T 0 TCGA-AB-2811 7 81 NM_015464.2 p.S198fs HMMPfam_Sclerostin 0 0 0 Novel: Amino Acid -> Known AA = H203H (1) F24L (1) G119R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 90 37 28.91 104 48 31.37 0 0 0 SOSTDC1 2 0 0 7 16502202 16502202 16468727 16468727 Frame_Shift_Del DEL T 0 TCGA-AB-2930 6 62 NM_015464.2 p.S198fs HMMPfam_Sclerostin 0 0 0 Novel: Amino Acid -> Known AA = H203H (1) F24L (1) G119R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 281 106 27.32 176 97 35.14 0 0 0 SP100 1 0 0 2 231379854 231379854 231088098 231088098 Frame_Shift_Del DEL A 0 TCGA-AB-2985 3 81 NM_003113.3 p.E714fs "HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box" 0 0 0 Novel: Amino Acid -> Known AA = Q602* (1) D136N (1) Q602L (1) E158del (1) K430K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 26 10 27.78 41 20 32.26 22 0 0 SPAG16 1 0 0 2 214228850 214228850 213937095 213937095 Nonsense_Mutation SNP C A TCGA-AB-2952 4 60 NM_024532.3 p.Y271* superfamily_WD40 repeat-like 0 0 0 "Novel, but near match: Amino Acid -> Known AA for Gene = G273G (1)" Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 17 9 34.62 8 11 57.89 1 0 0 SPAG17 2 0 0 1 118579433 118579433 118380956 118380956 Nonsense_Mutation SNP G T TCGA-AB-3000 6 25 NM_206996.2 p.C1131* NULL 0 0 0 Novel: Amino Acid -> Known AA = R200W (1) T2206T (1) D1707E (1) Novel: Amino Acid - OMIM Gene Name Not Found 0 0.0268 0.0093 NA NA NA 0 31 100 0 29 100 0 0 0 SPAG17 2 0 0 1 118624252 118624252 118425775 118425775 Nonsense_Mutation SNP C T TCGA-AB-2973 4 67 NM_206996.2 p.W592* NULL 0 0 0 Novel: Amino Acid -> Known AA = R200W (1) T2206T (1) D1707E (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 22 18 45 11 22 66.67 0 0 0 SPAG5 1 0 0 17 26918827 26918828 23942954 23942955 Frame_Shift_Del DEL AA 0 TCGA-AB-2841 5 51 NM_006461.3 p.L442fs NULL 0 0 0 Novel: Amino Acid -> Known AA = A187T (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 126 46 26.44 109 47 29.94 24 4 14.29 SPHK1 3 0 0 17 74383108 74383108 71894703 71894703 Frame_Shift_Del DEL G 0 TCGA-AB-2890 7 69 NM_182965.2 p.R285fs NULL 0 0 0 Novel: Amino Acid -> Known AA = C451C (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 14 7 33.33 15 6 28.57 3 0 0 SPHK1 3 0 0 17 74383108 74383108 71894703 71894703 Frame_Shift_Del DEL G 0 TCGA-AB-2834 7 33 NM_182965.2 p.R285fs NULL 0 0 0 Novel: Amino Acid -> Known AA = C451C (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 51 28 35 32 17 33.33 3 0 0 SPHK1 3 0 0 17 74383108 74383108 71894703 71894703 Frame_Shift_Del DEL G 0 TCGA-AB-2963 5 56 NM_182965.2 p.R285fs NULL 0 0 0 Novel: Amino Acid -> Known AA = C451C (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 20 7 25.93 12 5 27.78 0 0 0 SPINK5 1 0 0 5 147510920 147510920 147491113 147491113 Nonsense_Mutation SNP C G TCGA-AB-2907 3 69 NM_001127698.1 p.Y1051* "HMMPfam_Kazal_1,HMMSmart_SM00280,PatternScan_KAZAL,superfamily_Kazal-type serine protease inhibitors" 0 0 0 Novel: Amino Acid -> Known AA = ? (1) V1013L (1) Novel: Amino Acid NA NA NA NA NA NA 17 14 45.16 15 16 51.61 NA NA NA SPRR2E 1 0 0 1 153066215 153066215 151332839 151332839 Nonsense_Mutation SNP G A TCGA-AB-2979 5 30 NM_001024209.2 p.Q5* NULL 0 0 0 Novel: Amino Acid -> Known AA = K40K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 28 12 30 46 12 20.34 0 0 0 SPSB2 1 0 0 12 6981526 6981526 6851787 6851787 Nonsense_Mutation SNP G T TCGA-AB-2956 5 61 NM_032641.3 p.Y180* "HMMPfam_SPRY,HMMSmart_SPRY" 0 0 0 Novel: Amino Acid -> Known AA = R236H (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 65 37 36.27 54 54 50 12 17 58.62 SPTA1 2 0 0 1 158607836 158607836 156874460 156874460 Nonsense_Mutation SNP C A TCGA-AB-2880 7 24 NM_003126.2 p.E1726* "HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat" 0 0 0 Novel: Amino Acid -> Known AA = Q1581H (1) A2325A (1) K679N (1) I1734M (1) V164L (1) Novel: Amino Acid NA NA NA NA NA NA 236 263 52.71 186 195 51.18 2 3 60 SPTA1 2 0 0 1 158618346 158618346 156884970 156884970 Nonsense_Mutation SNP G A TCGA-AB-2905 6 48 NM_003126.2 p.R1223* "HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat" 0 0 0 Novel: Amino Acid -> Known AA = Q1581H (1) A2325A (1) K679N (1) I1734M (1) V164L (1) Novel: Amino Acid NA NA NA NA NA NA 12 27 69.23 24 24 50 NA NA NA SPTBN5 2 0 0.005 15 42147862 42147862 39935154 39935154 Nonsense_Mutation SNP G A TCGA-AB-2812 12 25 NM_016642.2 p.Q3000* "HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat" 0 0 0 Novel: Amino Acid -> Known AA = T2713I (1) A2902T (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 5 6 54.55 4 3 42.86 1 2 66.67 SPTBN5 2 0 0.005 15 42153965 42153965 39941257 39941257 Nonsense_Mutation SNP G A TCGA-AB-2900 13 70 NM_016642.2 p.Q2534* "HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat" 0 0 0 Novel: Amino Acid -> Known AA = T2713I (1) A2902T (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 0 4 100 2 3 60 NA NA NA STAB2 1 0 0 12 104149389 104149389 102673519 102673519 Splice_Site SNP G A TCGA-AB-2829 8 50 NM_017564.9 e63-1 0 0 0 0 Novel: Amino Acid -> Known AA = V1128D (1) R1596R (1) L583F (1) V1328V (1) A1874A (1) ? (1) A1444T (1) V52D (1) T2417M (1) P1929T (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 302 299 49.59 171 141 45.19 NA NA NA STAC2 1 0 0 17 37371484 37371484 34625010 34625010 Splice_Site SNP C T TCGA-AB-2939 9 72 NM_198993.3 e5-1 0 0 0 0 Novel: Amino Acid -> Known AA = ? (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 16 13 44.83 11 10 47.62 0 0 0 STAC3 1 0 0 12 57642881 57642882 55929148 55929149 Frame_Shift_Del DEL TG 0 TCGA-AB-2843 10 77 NM_145064.1 p.F92fs "HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_Cysteine-rich domain" 0 0 0 Novel: Amino Acid -> Known AA = R305W (1) K38N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 411 204 32.8 168 76 31.15 5 1 16.67 STAT5A 1 0 0 17 40461395 40461396 37714921 37714922 Frame_Shift_Ins INS 0 T TCGA-AB-2833 7 77 NM_003152.3 p.V706fs NULL 0 0 0 Novel: Amino Acid -> Known AA = I28V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 47 10 21.28 43 16 36.36 51 0 0 STBD1 1 0 0 4 77230903 77230903 77449927 77449927 Frame_Shift_Del DEL C 0 TCGA-AB-2818 11 62 NM_003943.3 p.T276fs "HMMPfam_CBM_20,superfamily_Starch-binding domain-like" 0 0 0 Novel: Amino Acid -> Known AA = D286E (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 33 16 32 64 25 27.78 16 9 34.62 STOX1 1 0 0 10 70645893 70645893 70315899 70315899 Nonsense_Mutation SNP G T TCGA-AB-2899 7 76 NM_001130161.2 p.E781* NULL 0 0 0 Novel: Amino Acid -> Known AA = E143* (1) Novel: Amino Acid NA NA NA NA NA NA 53 45 45.92 55 45 45 0 0 0 STRA6 1 0 0 15 74472561 74472562 72259614 72259615 Frame_Shift_Ins INS 0 CTTT TCGA-AB-2978 3 61 NM_001142617.1 p.D621fs NULL 0 0 0 Novel: Amino Acid -> Known AA = Q190* (1) Novel: Amino Acid NA NA NA NA NA NA 22 11 47.83 13 5 35.71 0 0 0 SUCNR1 1 0 0 3 151598943 151598947 153081633 153081637 Frame_Shift_Del DEL TTTCT 0 TCGA-AB-2970 1 34 NM_033050.4 p.F205fs "HMMPfam_7tm_1,superfamily_SSF81321" 0 0 0 Novel: Amino Acid -> Known AA = E326D (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 28 9 24.32 45 19 29.69 NA NA NA SYDE2 1 0 0 1 85647952 85647952 85420540 85420540 Frame_Shift_Del DEL T 0 TCGA-AB-2886 3 25 NM_032184.1 p.V792fs superfamily_C2 domain (Calcium/lipid-binding domain CaLB) 0 0 0 Novel: Amino Acid -> Known AA = D623D (1) S344A (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 40 16 28.07 62 30 30.61 NA NA NA TARBP1 1 0 0 1 234541779 234541779 232608402 232608402 Nonsense_Mutation SNP G A TCGA-AB-2825 9 31 NM_005646.3 p.R1287* superfamily_ARM-type_fold 0 0 0 Novel: Amino Acid -> Known AA = A1198A (1) W893* (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 50 42 45.65 43 46 51.11 35 25 41.67 TARSL2 1 0 0 15 102211945 102211945 100029468 100029468 Nonsense_Mutation SNP G A TCGA-AB-2845 12 37 NM_152334.2 p.Q599* superfamily_Class II aaRS and biotin synthetases 0 0 0 Novel: Amino Acid -> Known AA = L461F (1) F476C (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 59 70 54.26 48 45 48.39 9 6 40 TAS1R1 1 0 0.005 1 6639188 6639188 6561775 6561775 Frame_Shift_Del DEL G 0 TCGA-AB-2827 2 33 NM_138697.3 p.Q690fs HMMPfam_7tm_3 0 0 0 Novel: Amino Acid -> Known AA = M166I (1) A453V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 69 29 29.59 129 75 36.41 NA NA NA TBCK 1 0 0 4 107168421 107168424 107387870 107387873 Frame_Shift_Del DEL TTCA 0 TCGA-AB-2932 5 62 NM_033115.3 p.M205fs "superfamily_Kinase_like,HMMPfam_Pkinase" 0 0 0 Novel: Amino Acid -> Known AA = N457fs* (1) S609T (1) I806V (1) R503I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 53 10 15.87 41 11 21.15 7 0 0 TCEB3B 2 0 0.005 18 44560633 44560633 42814631 42814631 Nonsense_Mutation SNP C A TCGA-AB-2871 10 51 NM_016427.2 p.E335* NULL 0 0 0 Novel: Amino Acid -> Known AA = L529L (1) P612L (1) R498Q (1) P541Q (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 37 63 63 73 60 45.11 0 0 0 TCEB3B 2 0 0.005 18 44560728 44560731 42814726 42814729 Frame_Shift_Del DEL CTGT 0 TCGA-AB-2802 3 50 NM_016427.2 p.D302fs NULL 0 0 0 Novel: Amino Acid -> Known AA = L529L (1) P612L (1) R498Q (1) P541Q (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 89 39 30.47 99 44 30.56 NA NA NA TCP10 2 0 0 6 167786761 167786761 167706751 167706751 Nonsense_Mutation SNP G A TCGA-AB-2825 9 31 NM_004610.3 p.R293* NULL 0 0 0 Novel: Amino Acid -> Known AA = E19D (1) Novel: Amino Acid - OMIM Gene Name Not Found 0 0.3281 0.1035 NA NA NA 24 7 22.58 39 3 7.14 0 0 0 TCP10 2 0 0 6 167786761 167786761 167706751 167706751 Nonsense_Mutation SNP G A TCGA-AB-2929 5 71 NM_004610.3 p.R293* NULL 0 0 0 Novel: Amino Acid -> Known AA = E19D (1) Novel: Amino Acid - OMIM Gene Name Not Found 0 0.3281 0.1035 NA NA NA 37 5 11.9 56 10 15.15 0 0 0 TET2 1 X 0.16 4 106157821 106157821 106377270 106377270 Frame_Shift_Del DEL G 0 TCGA-AB-2873 3 51 NM_001127208.1 p.G908fs NULL 0 0 0 "Position Match: Amino Acid -> Matched TET2, 908, 908" Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 115 32 21.62 141 47 24.61 84 29 25.66 TEX15 2 0 0 8 30700834 30700835 30820376 30820377 Frame_Shift_Del DEL TC 0 TCGA-AB-2965 7 60 NM_031271.3 p.R1900fs NULL 0 0 0 Novel: Amino Acid -> Known AA = L1383F (1) S160P (1) S1112T (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 32 11 25.58 41 12 22.22 0 0 0 TEX15 2 0 0 8 30700834 30700835 30820376 30820377 Frame_Shift_Del DEL TC 0 TCGA-AB-2838 4 67 NM_031271.3 p.R1900fs NULL 0 0 0 Novel: Amino Acid -> Known AA = L1383F (1) S160P (1) S1112T (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 138 37 21.14 453 125 21.55 0 0 0 TGIF1 1 0 0 18 3452067 3452067 3442067 3442067 Nonsense_Mutation SNP G A TCGA-AB-2908 1 81 NM_170695.2 p.W30* NULL 0 0 0 Novel: Amino Acid -> Known AA = V176L (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0285 0 0.0186 0 0.002 0.0005 49 37 42.53 21 18 45 1 5 83.33 TGM6 1 0 0.005 20 2378606 2378606 2326606 2326606 Nonsense_Mutation SNP C T TCGA-AB-2989 5 29 NM_198994.2 p.R196* superfamily_Cysteine proteinases 0 0 0 Novel: Amino Acid -> Known AA = R293R (1) F462F (1) V529V (1) Novel: Amino Acid NA NA NA NA NA NA 12 11 47.83 10 7 41.18 NA NA NA TH1L 1 0 0 20 57566503 57566503 56999898 56999898 Splice_Site SNP T C TCGA-AB-2836 4 35 NM_198976.1 e9+2 0 0 0 0 Novel: Amino Acid -> Known AA = K302K (1) V312I (1) H462H (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 105 132 55.7 136 128 48.3 6 26 78.79 THADA 1 0 0 2 43735874 43735874 43589378 43589378 Nonsense_Mutation SNP C T TCGA-AB-2830 7 64 NM_001083953.1 p.W1140* HMMPfam_DUF2428 0 0 0 Novel: Amino Acid -> Known AA = L378L (1) G1496G (1) T1696T (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 61 63 50.4 147 90 37.97 20 10 33.33 THBS3 1 0 0 1 155175992 155175992 153442616 153442616 Frame_Shift_Del DEL T 0 TCGA-AB-2999 2 62 NM_007112.3 p.V96fs HMMSmart_SM00210 0 0 0 Novel: Amino Acid -> Known AA = ? (2) E210D (1) R955G (1) N310S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 32 13 28.89 35 14 28 10 0 0 THEM5 1 0 0 1 151819891 151819891 150086515 150086515 Splice_Site SNP C G TCGA-AB-2865 6 75 NM_182578.3 e6-1 0 0 0 0 Novel: Amino Acid -> Known AA = G124* (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 41 83 66.94 41 32 43.84 0 0 0 THSD1 1 0 0 13 52971367 52971367 51869368 51869368 Nonsense_Mutation SNP C A TCGA-AB-2820 6 76 NM_018676.3 p.E341* superfamily_TSP-1 type 1 repeat 0 0 0 Novel: Amino Acid -> Known AA = V125L (1) G199G (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 50 45 47.37 59 82 58.16 0 1 100 TJP3 2 0 0 19 3735934 3735934 3686934 3686934 Splice_Site SNP G A TCGA-AB-2818 11 62 NM_014428.1 e9+1 0 0 0 0 Novel: Amino Acid -> Known AA = ? (1) A587V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 105 81 43.55 46 32 41.03 0 1 100 TJP3 2 0 0 19 3746695 3746695 3697695 3697695 Splice_Site SNP T C TCGA-AB-2950 4 34 NM_014428.1 e16+2 0 0 0 0 Novel: Amino Acid -> Known AA = ? (1) A587V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 3 2 40 2 6 75 0 0 0 TKTL2 1 0 0 4 164394698 164394701 164614148 164614151 Frame_Shift_Del DEL GTCT 0 TCGA-AB-2912 4 63 NM_032136.4 p.D63fs "HMMPfam_Transketolase_N,superfamily_SSF52518" 0 0 0 Novel: Amino Acid -> Known AA = C447F (1) I549I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 79 27 25.23 74 23 23.71 0 0 0 TMC3 1 0 0 15 81627314 81627314 79414369 79414369 Nonsense_Mutation SNP G A TCGA-AB-2832 5 59 NM_001080532.1 p.R736* NULL 0 0 0 Novel: Amino Acid -> Known AA = S176C (1) M508T (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0147 0 0.0098 NA NA NA 23 28 54.9 62 79 56.03 0 0 0 TMEM132B 1 0 0 12 125834489 125834490 124400442 124400443 Frame_Shift_Ins INS 0 TGTG TCGA-AB-2942 4 67 NM_052907.2 p.A185fs NULL 0 0 0 Novel: Amino Acid -> Known AA = L590L (1) R930T (1) K857T (1) S562S (1) I613I (1) A425V (1) T1027N (1) L431F (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 96 27 27.27 105 36 33.96 0 0 0 TMEM146 2 0 0 19 5751720 5751720 5702720 5702720 Frame_Shift_Del DEL G 0 TCGA-AB-2818 11 62 NM_152784.3 p.E351fs NULL 0 0 0 Novel: Amino Acid -> Known AA = V576I (1) V487L (1) T354I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 47 25 34.25 23 14 35.9 0 0 0 TMEM146 2 0 0 19 5768252 5768255 5719252 5719255 Frame_Shift_Del DEL AAGT 0 TCGA-AB-2856 3 63 NM_152784.3 p.K545fs NULL 0 0 0 Novel: Amino Acid -> Known AA = V576I (1) V487L (1) T354I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 120 30 20 104 23 18.11 0 0 0 TMEM62 1 0 0 15 43461850 43461851 41249142 41249143 Frame_Shift_Ins INS 0 T TCGA-AB-2866 9 67 NM_024956.3 p.Y452fs NULL 0 0 0 Novel: Amino Acid -> Known AA = G179D (1) W284C (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 213 111 51.15 171 71 40.57 3 0 0 TMEM8B 1 0 0 9 35846275 35846276 35836275 35836276 Frame_Shift_Del DEL CT 0 TCGA-AB-2909 9 22 NM_001042589.1 p.S133fs NULL 0 0 0 Novel: Amino Acid -> Known AA = D47N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 60 27 31.03 76 28 26.92 0 0 0 TMPRSS7 3 0 0 3 111766585 111766585 113249275 113249275 Splice_Site SNP G A TCGA-AB-2871 10 51 NM_001042575.2 e4-1 0 rs143270245 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = D384H (1) S217S (1) Novel: Amino Acid - OMIM Gene Name Not Found 0 1.2821 0.2783 0 0.01 0.0032 35 33 48.53 47 36 43.37 0 0 0 TMPRSS7 3 0 0 3 111766585 111766585 113249275 113249275 Splice_Site SNP G A TCGA-AB-2900 13 70 NM_001042575.2 e4-1 0 rs143270245 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = D384H (1) S217S (1) Novel: Amino Acid - OMIM Gene Name Not Found 0 1.2821 0.2783 0 0.01 0.0032 27 30 52.63 27 31 53.45 NA NA NA TMPRSS7 3 0 0 3 111766585 111766585 113249275 113249275 Splice_Site SNP G A TCGA-AB-2975 6 54 NM_001042575.2 e4-1 0 rs143270245 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = D384H (1) S217S (1) Novel: Amino Acid - OMIM Gene Name Not Found 0 1.2821 0.2783 0 0.01 0.0032 22 23 51.11 12 14 53.85 NA NA NA TNFRSF9 1 0 0 1 7997763 7997763 7920350 7920350 Nonsense_Mutation SNP G A TCGA-AB-2811 7 81 NM_001561.4 p.R134* HMMSmart_TNFR 0 0 0 Novel: Amino Acid -> Known AA = G251R (1) V9E (1) E250G (1) S171S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 41 45 52.33 32 43 57.33 1 0 0 TNFSF18 2 0 0 1 173020073 173020073 171286696 171286696 Nonsense_Mutation SNP A T TCGA-AB-2880 7 24 NM_005092.3 p.C10* NULL rs185993550 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = V79M (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.513 0.1338 0.3812 0.0026 0 0.0009 70 47 40.17 62 37 37.37 0 0 0 TNFSF18 2 0 0 1 173020073 173020073 171286696 171286696 Nonsense_Mutation SNP A T TCGA-AB-2865 6 75 NM_005092.3 p.C10* NULL rs185993550 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = V79M (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.513 0.1338 0.3812 0.0026 0 0.0009 24 7 22.58 44 39 46.99 0 0 0 TNIP3 1 0 0 4 122075705 122075705 122295155 122295155 Splice_Site SNP C T TCGA-AB-2833 7 77 NM_001128843.1 e5+1 0 0 0 0 Novel: Amino Acid -> Known AA = R215* (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 105 68 39.31 87 60 40.82 0 0 0 TNK2 1 0 0 3 195605465 195605465 197089862 197089862 Splice_Site SNP T C TCGA-AB-2888 4 57 NM_001010938.1 e8-2 0 0 0 0 Novel: Amino Acid -> Known AA = R99R (1) M409I (1) E329E (1) R99Q (1) E346K (1) R750G (1) R34L (1) K42K (1) W75* (1) R84* (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 21 20 48.78 48 25 34.25 13 15 53.57 TNPO3 1 0 0 7 128655031 128655031 128442267 128442267 Splice_Site SNP A T TCGA-AB-2877 9 60 NM_012470.2 e4+2 0 0 0 0 Novel: Amino Acid -> Known AA = R160R (1) G350G (1) G350R (1) R923* (1) R797R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 81 60 42.55 84 74 46.84 3 24 88.89 TOM1 1 0 0 22 35730333 35730337 34060333 34060337 Frame_Shift_Del DEL GCAGT 0 TCGA-AB-2989 5 29 NM_001135732.1 p.S348fs NULL 0 0 0 Novel: Amino Acid -> Known AA = N61H (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 22 5 17.86 18 7 28 NA NA NA TOM1L1 2 0 0 17 52978281 52978282 50333280 50333281 Frame_Shift_Del DEL AT 0 TCGA-AB-2942 4 67 NM_005486.2 p.I19fs "HMMPfam_VHS,superfamily_ENTH_VHS,HMMSmart_VHS" 0 0 0 Novel: Amino Acid -> Known AA = V218M (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 222 95 29.97 245 109 30.79 0 0 0 TOM1L1 2 0 0 17 53014009 53014009 50369008 50369008 Splice_Site SNP G A TCGA-AB-2903 8 76 NM_005486.2 e9-1 0 0 0 0 Novel: Amino Acid -> Known AA = V218M (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0143 0 0.0093 NA NA NA 52 41 44.09 46 57 55.34 0 0 0 TP53AIP1 3 0 0 11 128807551 128807551 128312761 128312761 Nonsense_Mutation SNP G A TCGA-AB-2999 2 62 NM_022112.1 p.R55* NULL 0 0 0 Novel: Amino Acid -> Known AA = A7V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 17 9 33.33 10 25 71.43 0 0 0 TP53AIP1 3 0 0 11 128807650 128807651 128312860 128312861 Frame_Shift_Ins INS 0 C TCGA-AB-2910 4 61 NM_022112.1 p.Q21fs NULL 0 0 0 Novel: Amino Acid -> Known AA = A7V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 31 21 61.76 97 43 44.33 0 0 0 TP53AIP1 3 0 0 11 128807650 128807651 128312860 128312861 Frame_Shift_Ins INS 0 C TCGA-AB-2921 6 55 NM_022112.1 p.Q21fs NULL 0 0 0 Novel: Amino Acid -> Known AA = A7V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 63 27 42.86 42 19 43.18 0 0 0 TP53TG5 1 0 0 20 44002653 44002653 43436067 43436067 Splice_Site SNP T A TCGA-AB-3000 6 25 NM_014477.2 e5-2 0 rs183076524 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = W283* (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0.004 0 0.0014 6 6 50 5 13 72.22 1 2 66.67 TPRKB 1 0 0 2 73957705 73957708 73811213 73811216 Frame_Shift_Del DEL ATTC 0 TCGA-AB-2968 4 79 NM_016058.2 p.M140fs HMMPfam_CGI-121 0 0 0 Novel: Amino Acid -> Known AA = R30R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 35 14 28.57 45 20 30.77 NA NA NA TRAF3IP3 1 0 0 1 209948994 209948994 208015617 208015617 Nonsense_Mutation SNP T G TCGA-AB-2913 4 61 NM_025228.2 p.Y302* NULL 0 0 0 Novel: Amino Acid -> Known AA = ? (1) P509S (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0142 0 0.0093 NA NA NA 142 137 49.1 137 105 43.39 30 15 33.33 TRANK1 1 0 0 3 36873636 36873636 36848640 36848640 Nonsense_Mutation SNP T A TCGA-AB-2916 6 49 NM_014831.2 p.K1886* NULL 0 0 0 Novel: Amino Acid -> Known AA = M740T (1) G1175G (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 123 130 51.38 180 148 45.12 4 8 66.67 TRDMT1 1 0 0 10 17201204 17201204 17241210 17241210 Nonsense_Mutation SNP G A TCGA-AB-2811 7 81 NM_004412.5 p.R162* superfamily_S-adenosyl-L-methionine-dependent methyltransferases 0 0 0 Novel: Amino Acid -> Known AA = G155V (1) Novel: Amino Acid - OMIM Gene Name Not Found 0 0.0268 0.0093 NA NA NA 39 33 45.83 38 42 52.5 0 2 100 TRIM13 1 0 0 13 50586871 50586872 49484872 49484873 Frame_Shift_Ins INS 0 C TCGA-AB-2865 6 75 NM_001007278.1 p.L269fs NULL 0 0 0 Novel: Amino Acid -> Known AA = V401L (1) Q195* (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 84 40 44.94 105 43 37.39 61 23 35.94 TRIM25 1 0 0 17 54991208 54991212 52346207 52346211 Frame_Shift_Del DEL ATGGC 0 TCGA-AB-2997 6 25 NM_005082.4 p.Y48fs "HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box" 0 0 0 Novel: Amino Acid -> Known AA = P23S (1) K301* (1) L202L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 17 5 22.73 9 5 35.71 NA NA NA TRIM47 1 0 0 17 73870872 73870872 71382467 71382467 Nonsense_Mutation SNP C A TCGA-AB-2936 5 60 NM_033452.2 p.E537* NULL 0 0 0 Novel: Amino Acid -> Known AA = C377C (1) F561fs* (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 34 34 50 5 9 64.29 1 2 66.67 TRIM55 2 0 0 8 67066281 67066281 67228835 67228835 Splice_Site SNP G C TCGA-AB-2984 3 38 NM_184085.1 e9-1 0 0 0 0 Novel: Amino Acid -> Known AA = V38V (1) R535H (1) K250K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 6 10 62.5 9 11 52.38 0 0 0 TRIM55 2 0 0 8 67066281 67066281 67228835 67228835 Splice_Site SNP G C TCGA-AB-2948 4 67 NM_184085.1 e9-1 0 0 0 0 Novel: Amino Acid -> Known AA = V38V (1) R535H (1) K250K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 99 101 49.75 88 97 52.43 0 0 0 TRIML1 1 0 0 4 189068289 189068289 189305283 189305283 Nonsense_Mutation SNP G A TCGA-AB-3008 3 22 NM_178556.3 p.W390* "HMMPfam_SPRY,HMMSmart_SPRY" 0 0 0 Novel: Amino Acid -> Known AA = D21H (1) T275T (1) F445I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 7 14 66.67 18 19 51.35 0 0 0 TRIOBP 1 0 0 22 38136950 38136950 36466896 36466896 Nonsense_Mutation SNP C T TCGA-AB-2835 7 48 NM_001039141.2 p.R1745* NULL 0 0 0 Novel: Amino Acid -> Known AA = P389S (1) Novel: Amino Acid 0.0151 0 0.0102 NA NA NA 8 7 46.67 2 5 62.5 1 3 75 TRIP11 1 X 0 14 92471763 92471763 91541516 91541516 Nonsense_Mutation SNP G A TCGA-AB-2994 9 25 NM_004239.3 p.R853* NULL 0 0 0 Novel: Amino Acid -> Known AA = P1844R (1) A1196A (1) L1868L (1) E539A (1) T971fs* (1) L546F (1) L390L (1) E348K (1) L284F (1) K1213N (1) P1844P (1) Novel: Amino Acid NA NA NA NA NA NA 16 10 38.46 20 14 41.18 9 5 35.71 TRIT1 1 0 0 1 40319722 40319722 40092309 40092309 Frame_Shift_Del DEL G 0 TCGA-AB-2815 3 49 NM_017646.4 p.R112fs "HMMPfam_IPPT,superfamily_P-loop containing nucleoside triphosphate hydrolases" 0 0 0 Novel: Amino Acid -> Known AA = H204fs* (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 130 35 21.21 130 58 30.85 11 0 0 TRMT1 1 0 0 19 13220482 13220482 13081482 13081482 Nonsense_Mutation SNP C T TCGA-AB-2959 4 71 NM_001136035.2 p.W398* HMMPfam_TRM 0 0 0 Novel: Amino Acid -> Known AA = G377R (1) T459I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 47 51 52.04 9 13 59.09 9 6 40 TRPA1 1 0 0 8 72938194 72938194 73100748 73100748 Splice_Site SNP C T TCGA-AB-2984 3 38 NM_007332.2 e25+1 0 0 0 0 Novel: Amino Acid -> Known AA = T772T (1) T1055I (1) F278S (1) N143N (1) D260N (1) C834C (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 9 9 50 5 14 73.68 0 0 0 TRPC6 1 0 0 11 101375222 101375222 100880432 100880432 Nonsense_Mutation SNP G A TCGA-AB-2860 5 60 NM_004621.5 p.R160* "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" 0 0 0 Novel: Amino Acid -> Known AA = S270Y (1) S217S (1) Novel: Amino Acid NA NA NA NA NA NA 33 26 44.07 32 34 51.52 0 0 0 TRPM1 1 0 0 15 31318378 31318378 29105670 29105670 Nonsense_Mutation SNP G T TCGA-AB-2949 3 58 NM_002420.4 p.S1176* NULL 0 0 0 Novel: Amino Acid -> Known AA = G1279R (1) K1170K (1) P759L (1) E1222K (1) Novel: Amino Acid NA NA NA NA NA NA 59 65 52.42 57 44 43.56 0 0 0 TTC21A 1 0 0 3 39167024 39167024 39142028 39142028 Splice_Site SNP G A TCGA-AB-2837 5 66 NM_001105513.2 e11+1 0 0 0 0 Novel: Amino Acid -> Known AA = G610S (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.134 0 0.0903 NA NA NA 273 274 49.73 246 213 46.2 1 5 83.33 TTLL3 1 0 0 3 9854663 9854664 9829663 9829664 Frame_Shift_Del DEL GT 0 TCGA-AB-2994 9 25 NM_001025930.2 p.V29fs NULL 0 0 0 Novel: Amino Acid -> Known AA = M476I (1) G454S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 21 9 29.03 44 18 28.57 24 13 33.33 TTLL5 1 0 0.005 14 76238192 76238193 75307945 75307946 Frame_Shift_Ins INS 0 AGAT TCGA-AB-2842 7 64 NM_015072.4 p.M712fs NULL 0 0 0 Novel: Amino Acid -> Known AA = E20K (1) P926S (1) P487P (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 746 273 36.06 610 237 38.16 11 0 0 TUBB8 1 0 0 10 93489 93489 83489 83489 Nonsense_Mutation SNP G C TCGA-AB-2904 2 65 NM_177987.2 p.Y281* "superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C" 0 0 0 Novel: Amino Acid -> Known AA = P346R (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.033 0.2044 0.095 NA NA NA 37 8 17.78 131 19 12.67 0 3 100 TUBE1 1 0 0 6 112393960 112393960 112500653 112500653 Splice_Site SNP C T TCGA-AB-2889 3 55 NM_016262.4 e10+1 0 0 0 0 Novel: Amino Acid -> Known AA = K235K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 74 86 53.75 67 51 43.22 4 1 20 TXNDC15 1 0 0 5 134229246 134229246 134257145 134257145 Nonsense_Mutation SNP G A TCGA-AB-2879 4 68 NM_024715.3 p.W219* "superfamily_Thioredoxin-like,HMMPfam_Thioredoxin" 0 0 0 Novel: Amino Acid -> Known AA = G207S (1) S248P (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0.0013 0 0.0005 196 211 51.84 159 155 49.21 29 6 17.14 TYRP1 1 0 0 9 12702411 12702414 12692411 12692414 Frame_Shift_Del DEL ACAA 0 TCGA-AB-2977 4 71 NM_000550.2 p.N353fs "HMMPfam_Tyrosinase,superfamily_Di-copper_centre" 0 0 0 Novel: Amino Acid -> Known AA = A24S (1) Novel: Amino Acid NA NA NA NA NA NA 20 9 31.03 28 10 26.32 0 0 0 UBE4B 1 0 0 1 10166599 10166599 10089186 10089186 Frame_Shift_Del DEL G 0 TCGA-AB-2925 2 57 NM_001105562.1 p.S385fs NULL 0 0 0 Novel: Amino Acid -> Known AA = R1037W (1) G1065G (1) S497fs* (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 114 55 32.16 114 51 30.72 2 0 0 UBQLNL 1 0 0 11 5537437 5537449 5494013 5494025 Frame_Shift_Del DEL GAAGGCAACCCAT 0 TCGA-AB-2812 12 25 NM_145053.4 p.M75fs "HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like" 0 0 0 Novel: Amino Acid -> Known AA = S364F (1) P313S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 307 59 16.08 146 19 11.52 NA NA NA UBXN11 1 0 0 1 26609355 26609356 26481942 26481943 Frame_Shift_Del DEL CT 0 TCGA-AB-2810 8 76 NM_183008.2 p.R384fs superfamily_Ubiquitin-like 0 0 0 Novel: Amino Acid -> Known AA = R351W (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 63 22 25.88 49 22 30.99 2 0 0 UGGT2 1 0 0 13 96555161 96555161 95353162 95353162 Nonsense_Mutation SNP C A TCGA-AB-2926 9 57 NM_020121.3 p.E817* NULL 0 0 0 Novel: Amino Acid -> Known AA = R1016H (1) K719* (1) F110F (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 67 33 32.67 56 42 42.86 NA NA NA UGT2B7 3 0 0 4 69962346 69962346 69996935 69996935 Nonsense_Mutation SNP G A TCGA-AB-2913 4 61 NM_001074.2 p.W36* "HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase" 0 0 0 Novel: Amino Acid -> Known AA = ? (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 153 120 43.96 103 85 45.21 0 0 0 UGT2B7 3 0 0 4 69962661 69962662 69997250 69997251 Frame_Shift_Del DEL AG 0 TCGA-AB-2884 3 44 NM_001074.2 p.E142fs "HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase" 0 0 0 Novel: Amino Acid -> Known AA = ? (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 89 32 26.45 81 43 34.68 0 0 0 UGT2B7 3 0 0 4 69978239 69978239 70012828 70012828 Nonsense_Mutation SNP C T TCGA-AB-2811 7 81 NM_001074.2 p.R459* "HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase" 0 0 0 Novel: Amino Acid -> Known AA = ? (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 130 109 45.61 91 105 53.57 0 0 0 UHRF1BP1L 1 0 0 12 100433569 100433569 98957700 98957700 Splice_Site SNP T C TCGA-AB-2927 8 88 NM_015054.1 e20-2 0 0 0 0 Novel: Amino Acid -> Known AA = I602V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 43 50 53.76 40 58 59.18 1 9 90 UMOD 1 0 0 16 20359563 20359563 20267064 20267064 Nonsense_Mutation SNP G A TCGA-AB-2828 5 55 NM_001008389.1 p.Q319* superfamily_EGF/Laminin 0 0 0 Novel: Amino Acid -> Known AA = A556G (1) Novel: Amino Acid NA NA NA NA NA NA 245 157 39.05 127 86 40.38 0 0 0 UMODL1 1 0 0 21 43504356 43504356 42377425 42377425 Splice_Site SNP G C TCGA-AB-2813 7 78 NM_173568.3 e3+1 0 0 0 0 Novel: Amino Acid -> Known AA = H693N (1) R231W (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 9 12 57.14 19 36 65.45 0 0 0 UNC5CL 1 0 0 6 41001632 41001632 41109610 41109610 Frame_Shift_Del DEL A 0 TCGA-AB-2898 5 69 NM_173561.1 p.L225fs NULL 0 0 0 Novel: Amino Acid -> Known AA = S6G (1) W33R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 207 88 29.83 257 101 28.06 3 0 0 USH2A 1 0 0 1 216074096 216074096 214140719 214140719 Splice_Site SNP C T TCGA-AB-3008 3 22 NM_206933.2 e38+1 0 0 0 0 Novel: Amino Acid -> Known AA = A5048A (1) C3359* (1) R189C (1) P139T (1) A99V (1) R4302R (1) T453I (1) Q3102H (1) R737* (1) Y2277H (1) S1088N (1) V1756I (1) V2829L (1) D3327N (1) G3754A (1) ? (1) N2560S (1) W1208C (1) I399F (1) R3258R (1) E3989K (1) G1911R (1) Novel: Amino Acid NA NA NA NA NA NA 15 13 46.43 19 30 61.22 0 0 0 USP25 1 0 0 21 17198543 17198544 16120414 16120415 Frame_Shift_Ins INS 0 T TCGA-AB-2927 8 88 NM_013396.3 p.P443fs "HMMPfam_UCH,superfamily_Cysteine proteinases" 0 0 0 Novel: Amino Acid -> Known AA = E600D (1) G946R (1) I957I (1) T427M (1) L881L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 216 98 44.75 272 116 42.18 48 18 37.5 USP4 2 0 0 3 49348052 49348052 49323056 49323056 Splice_Site SNP C T TCGA-AB-2842 7 64 NM_003363.3 e8+1 0 0 0 0 Novel: Amino Acid -> Known AA = I297I (1) K186N (1) R501T (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0285 0 0.0186 NA NA NA 402 591 59.52 233 231 49.78 2 8 66.67 USP4 2 0 0 3 49348052 49348052 49323056 49323056 Splice_Site SNP C T TCGA-AB-2931 9 75 NM_003363.3 e8+1 0 0 0 0 Novel: Amino Acid -> Known AA = I297I (1) K186N (1) R501T (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0285 0 0.0186 NA NA NA 115 104 47.49 36 40 51.95 3 36 90 USP45 3 0 0 6 99914641 99914641 100021362 100021362 Splice_Site SNP T A TCGA-AB-2872 6 42 NM_001080481.1 e10-2 0 0 0 0 Novel: Amino Acid -> Known AA = G525* (1) Novel: Amino Acid - OMIM Gene Name Not Found 0 0.0268 0.0093 NA NA NA 117 78 40 72 99 57.89 9 9 50 USP45 3 0 0 6 99958090 99958090 100064811 100064811 Frame_Shift_Del DEL C 0 TCGA-AB-2934 6 65 NM_001080481.1 p.V3fs NULL 0 0 0 Novel: Amino Acid -> Known AA = G525* (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 171 77 30.56 419 163 27.86 5 2 28.57 USP45 3 0 0 6 99958090 99958090 100064811 100064811 Frame_Shift_Del DEL C 0 TCGA-AB-2845 12 37 NM_001080481.1 p.V3fs NULL 0 0 0 Novel: Amino Acid -> Known AA = G525* (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 60 24 28.57 181 85 31.6 0 0 0 USP6 4 X 0.005 17 5040433 5040433 4981157 4981157 Frame_Shift_Del DEL C 0 TCGA-AB-2955 4 56 NM_004505.2 p.C259fs "HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p" 0 0 0 Novel: Amino Acid -> Known AA = R456W (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 240 104 29.89 127 47 26.7 0 0 0 USP6 4 X 0.005 17 5048786 5048787 4989510 4989511 Frame_Shift_Del DEL AT 0 TCGA-AB-2862 5 33 NM_004505.2 p.C694fs "HMMPfam_UCH,superfamily_Cysteine proteinases" 0 0 0 Novel: Amino Acid -> Known AA = R456W (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 53 27 32.93 83 33 27.73 NA NA NA USP6 4 X 0.005 17 5071263 5071263 5011987 5011987 Frame_Shift_Del DEL C 0 TCGA-AB-2818 11 62 NM_004505.2 p.R1025fs "HMMPfam_UCH,superfamily_Cysteine proteinases" 0 0 0 Novel: Amino Acid -> Known AA = R456W (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 38 22 36.67 58 26 30.95 5 0 0 USP6 4 X 0.005 17 5071419 5071419 5012143 5012143 Splice_Site SNP G A TCGA-AB-2899 7 76 NM_004505.2 e25+1 0 0 0 0 Novel: Amino Acid -> Known AA = R456W (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 105 95 47.5 121 117 49.16 0 0 0 UVRAG 1 0 0 11 75727858 75727858 75405506 75405506 Splice_Site SNP G T TCGA-AB-2859 7 40 NM_003369.3 e12-1 0 0 0 0 Novel: Amino Acid -> Known AA = G160E (1) V110V (1) I53V (1) N561K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 222 116 34.32 282 215 43.17 2 6 75 VARS 1 0 0.005 6 31760258 31760258 31868237 31868237 Nonsense_Mutation SNP G A TCGA-AB-2803 3 61 NM_006295.2 p.Q233* NULL 0 0 0 Novel: Amino Acid -> Known AA = P1232L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 28 41 59.42 39 44 53.01 22 7 24.14 VN1R1 2 0 0 19 57967640 57967641 62659452 62659453 Frame_Shift_Del DEL AA 0 TCGA-AB-2871 10 51 NM_020633.2 p.L72fs superfamily_Family A G protein-coupled receptor-like 0 0 0 Novel: Amino Acid -> Known AA = T83R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0 0.02 0.01 90 38 28.79 95 40 28.99 5 1 6.25 VN1R1 2 0 0 19 57967640 57967641 62659452 62659453 Frame_Shift_Del DEL AA 0 TCGA-AB-2872 6 42 NM_020633.2 p.L72fs superfamily_Family A G protein-coupled receptor-like 0 0 0 Novel: Amino Acid -> Known AA = T83R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA 0 0.02 0.01 150 59 28.1 129 67 33.67 9 6 40 VPS13B 1 0 0.005 8 100830940 100830940 100900116 100900116 Splice_Site SNP G T TCGA-AB-2843 10 77 NM_017890.3 e46-1 0 0 0 0 Novel: Amino Acid -> Known AA = E2777K (1) P2409L (1) G3681R (1) S1189S (1) H303R (1) Y3639C (1) R3530W (1) T638I (1) C1174* (1) Y860Y (1) A3982D (1) V3011D (1) L3001V (1) S3094S (1) K3282T (1) S2075N (1) P1119L (1) D385N (1) S899Y (1) Novel: Amino Acid NA NA NA NA NA NA 64 19 22.89 89 30 25.21 0 0 0 VPS16 1 0 0 20 2845636 2845636 2793636 2793636 Nonsense_Mutation SNP C T TCGA-AB-2829 8 50 NM_022575.2 p.R647* HMMPfam_Vps16_C 0 0 0 Novel: Amino Acid -> Known AA = A836T (1) D739G (1) Q673H (1) Novel: Amino Acid - OMIM Gene Name Not Found 0 0.0268 0.0093 NA NA NA 164 264 60.41 74 90 53.25 NA NA NA VSIG1 1 0 0 X 107320550 107320550 107207206 107207206 Nonsense_Mutation SNP C G TCGA-AB-2816 3 57 NM_182607.4 p.S368* NULL 0 0 0 Novel: Amino Acid -> Known AA = R89G (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.018 0 0.0114 0 0 0 154 146 48.67 108 132 55 0 0 0 VWA3A 1 0 0 16 22108891 22108891 22016392 22016392 Splice_Site SNP A G TCGA-AB-2995 2 63 NM_173615.3 e3-2 0 0 0 0 Novel: Amino Acid -> Known AA = ? (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 14 16 53.33 16 12 42.86 0 0 0 VWA3B 1 0 0.005 2 98810932 98810932 98177364 98177364 Nonsense_Mutation SNP C T TCGA-AB-2812 12 25 NM_144992.4 p.Q572* "HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like" rs145295911 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = P1144P (1) L394M (1) L104L (1) A446A (1) N916D (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.015 1.9792 0.6373 0 0.04 0.01 542 432 44.35 223 243 52.15 0 0 0 VWF 1 0 0 12 6167086 6167087 6037347 6037348 Frame_Shift_Ins INS 0 A TCGA-AB-2973 4 67 NM_000552.3 p.W553fs NULL 0 0 0 Novel: Amino Acid -> Known AA = N2725N (1) D533D (1) T286T (1) R2478W (1) A1344A (1) P2722A (1) Y1570C (1) Novel: Amino Acid NA NA NA NA NA NA 13 6 46.15 23 10 43.48 0 0 0 WAPAL 1 0 0.005 10 88260502 88260502 88250482 88250482 Splice_Site SNP T C TCGA-AB-2934 6 65 NM_015045.2 e2-2 0 0 0 0 Novel: Amino Acid -> Known AA = G1173R (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0142 0 0.0093 NA NA NA 61 72 54.14 305 289 48.65 2 10 83.33 WBP2NL 2 0 0 22 42422769 42422769 40752715 40752715 Splice_Site SNP G A TCGA-AB-2909 9 22 NM_152613.2 e6-1 0 0 0 0 Novel: Amino Acid -> Known AA = S6C (1) L83V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 85 84 49.7 94 124 56.88 0 0 0 WBP2NL 2 0 0 22 42422901 42422901 40752847 40752847 Nonsense_Mutation SNP C T TCGA-AB-2815 3 49 NM_152613.2 p.R216* HMMPfam_WWbp 0 0 0 Novel: Amino Acid -> Known AA = S6C (1) L83V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 140 59 29.65 151 157 50.32 0 0 0 WDR27 2 0 0.005 6 170060843 170060843 169802768 169802768 Frame_Shift_Del DEL G 0 TCGA-AB-2849 5 39 NM_182552.3 p.R349fs NULL 0 0 0 Novel: Amino Acid -> Known AA = S9* (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 44 20 31.25 96 41 29.93 8 0 0 WDR27 2 0 0.005 6 170070759 170070759 169812684 169812684 Nonsense_Mutation SNP G T TCGA-AB-2862 5 33 NM_182552.3 p.S121* "HMMSmart_SM00320,superfamily_WD40 repeat-like" 0 0 0 Novel: Amino Acid -> Known AA = S9* (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0149 0 0.0101 NA NA NA 76 49 39.2 131 104 44.26 NA NA NA WDR66 1 0 0 12 122359545 122359546 120843928 120843929 Frame_Shift_Del DEL AC 0 TCGA-AB-2994 9 25 NM_144668.4 p.Q113fs superfamily_WD40 repeat-like 0 0 0 Novel: Amino Acid -> Known AA = Y293* (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 38 16 29.63 51 16 23.88 4 3 42.86 WDYHV1 1 0 0 8 124449538 124449538 124518719 124518719 Nonsense_Mutation SNP G T TCGA-AB-2847 6 53 NM_018024.1 p.E158* HMMPfam_WDYHV 0 0 0 Novel: Amino Acid -> Known AA = Y80F (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0285 0 0.0186 NA NA NA 21 14 40 23 20 46.51 14 7 33.33 WNT7A 1 0 0 3 13916443 13916443 13891444 13891444 Splice_Site SNP C G TCGA-AB-2972 4 82 NM_004625.3 e2+1 0 0 0 0 Novel: Amino Acid -> Known AA = E199Q (1) E171D (1) Novel: Amino Acid NA NA NA NA NA NA 15 15 50 29 25 46.3 0 0 0 WT1 1 X 0.065 11 32417947 32417948 32374523 32374524 Frame_Shift_Ins INS 0 C TCGA-AB-2856 3 63 NM_024426.3 p.R368fs HMMPfam_WT1 0 0 0 "Novel, but near match: Amino Acid -> Known AA for Gene = L431fs* (1) S315P (1) ?fs (7) Q341fs* (1) R312fs* (26) P164fs* (1) S46* (3) P117fs* (1) E316fs* (1) *0? (23) R433C (1) D396fs* (1) A314fs* (35) K371R (1) D299Y (1) C385fs* (1) A41fs* (1) H397fs* (1) S313fs* (23) H405fs* (4) S121* (1) T290fs* (1) C388Y (1) P196fs* (1) Q298* (2) S365fs* (1) R390* (8) R366C (1) M342fs* (1) F154S (2) W238fs* (1) C385Y (1) D396N (6) G186fs* (1) R394Q (4) R302fs* (25) H162fs* (2) Q147fs* (1) V311fs* (13) S313* (10) P27fs* (1) V303fs* (18) V306fs* (1) V380-410S (1) L337fs* (1) T309fs* (19) D299fs* (1) W238* (1) R394P (5) K346R (1) R333K (1) G379V (2) K336E (1) R312Q (2) S223T (1) R312G (1) Y327H (1) Q341* (2) H397D (1) R433fs* (7) P198fs* (2) Y334fs* (1) R390P (1) F392fs* (2) S338P (1) R312* (2) N266S (1) R302H (1) Q124fs* (1) W78fs* (1) P58fs* (2) R301* (5) P304fs* (1) S122fs* (1) H397Q (2) P57fs* (1) fs (1) H69fs* (2) S175* (1) P181S (1) E139fs* (1) S313del (1) R301fs* (21) Q184fs* (1) S367fs* (1) V300fs* (2) ? (43) T153fs* (1) A31V (1) L310fs* (9) S273G (1) V195fs* (2) G148fs* (1) V432fs* (1) Y48* (2) P308fs* (3) N331fs* (3) G201D (1) R394G (1) R403T (1) H373Y (1) K358fs* (1) E272fs* (1) A125fs* (1) A307fs* (4) D396H (1) C282R (1) R394W (4) C107S (1) R362fs* (1) H405L (1) P322fs* (1) L134fs* (1) H438fs* (1) K177fs* (1) S338fs* (1) R362* (2) S338Y (1) H373fs* (1)" "Novel, but near match: Amino Acid" NA NA NA NA NA NA 35 6 17.14 25 6 24 6 0 0 XIRP2 1 0 0.005 2 168106939 168106940 167815185 167815186 Frame_Shift_Del DEL AC 0 TCGA-AB-2941 4 73 NM_152381.4 p.H3014fs NULL 0 0 0 Novel: Amino Acid -> Known AA = Q1158L (1) P2292P (1) L1917I (1) P178H (1) T2416N (1) R3253K (1) G127R (1) E3260G (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 236 86 26.63 167 82 32.8 0 0 0 XKR9 1 0 0 8 71646149 71646150 71808703 71808704 Frame_Shift_Del DEL AT 0 TCGA-AB-2824 2 44 NM_001011720.1 p.Y205fs HMMPfam_XK-related 0 0 0 Novel: Amino Acid -> Known AA = P320P (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 70 21 23.08 179 66 26.94 0 0 0 YME1L1 1 0 0 10 27431360 27431360 27471366 27471366 Nonsense_Mutation SNP G C TCGA-AB-2937 4 35 NM_139312.1 p.S186* NULL 0 0 0 Novel: Amino Acid -> Known AA = L211F (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 150 124 45.26 212 171 44.65 23 16 41.03 ZBBX 1 0 0 3 167083673 167083673 168566367 168566367 Splice_Site SNP C G TCGA-AB-2956 5 61 NM_024687.2 e3+1 0 rs184708397 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = Q590Q (1) Q578fs* (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.3212 0 0.2213 0.004 0 0.0014 17 10 37.04 31 31 50 0 0 0 ZC3H6 1 0 0 2 113089485 113089488 112805956 112805959 Frame_Shift_Del DEL ACTT 0 TCGA-AB-2938 4 76 NM_198581.2 p.L998fs NULL 0 0 0 Novel: Amino Acid -> Known AA = E283K (1) S1071L (1) D154G (1) G752* (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 49 10 16.95 77 27 25.71 5 0 0 ZCCHC5 1 0 0 X 77913141 77913141 77799797 77799797 Nonsense_Mutation SNP A T TCGA-AB-2933 4 58 NM_152694.2 p.Y259* NULL 0 0 0 "Novel, but near match: Amino Acid -> Known AA for Gene = S260T (1)" Novel: Amino Acid - OMIM Gene Name Not Found 0.018 0.0311 0.0228 0 0 0 0 18 100 0 19 100 0 0 0 ZDBF2 1 0 0 2 207169914 207169917 206878159 206878162 Frame_Shift_Del DEL CAAA 0 TCGA-AB-2806 4 46 NM_020923.1 p.N222fs NULL 0 0 0 Novel: Amino Acid -> Known AA = D232D (1) E1085G (1) E888K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 33 17 33.33 51 24 31.58 0 0 0 ZFP37 1 0 0 9 115805694 115805694 114845515 114845515 Nonsense_Mutation SNP C A TCGA-AB-2813 7 78 NM_003408.1 p.E402* superfamily_SSF57667 0 0 0 Novel: Amino Acid -> Known AA = R20K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 119 116 48.95 148 151 50.5 0 0 0 ZFYVE26 1 0 0 14 68220786 68220786 67290539 67290539 Splice_Site SNP A G TCGA-AB-2980 3 50 NM_015346.3 e37+2 0 0 0 0 Novel: Amino Acid -> Known AA = L1038L (1) F678F (1) L1630V (1) R762C (1) A1164E (1) P288P (1) L176V (1) R1945Q (1) A539V (1) K2236N (1) L817L (1) Novel: Amino Acid NA NA NA NA NA NA 21 15 41.67 14 22 61.11 0 0 0 ZFYVE27 1 0 0 10 99502913 99502916 99492903 99492906 Frame_Shift_Del DEL TGAA 0 TCGA-AB-2923 6 78 NM_001002261.3 p.N88fs NULL 0 0 0 Novel: Amino Acid -> Known AA = E240G (1) Novel: Amino Acid NA NA NA NA NA NA 173 48 21.43 185 69 27.06 NA NA NA ZNF14 1 0 0 19 19822619 19822619 19683619 19683619 Nonsense_Mutation SNP G A TCGA-AB-2917 4 41 NM_021030.2 p.R491* "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" 0 0 0 Novel: Amino Acid -> Known AA = H297Y (1) V166M (1) R64R (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0142 0 0.0093 NA NA NA 11 15 57.69 47 29 38.16 NA NA NA ZNF208 2 0 0 19 22155979 22155979 21947819 21947819 Frame_Shift_Del DEL A 0 TCGA-AB-2901 10 27 NM_007153.3 p.S519fs "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF48695" 0 0 0 "Novel, but near match: Amino Acid -> Known AA for Gene = E513D (1) C819C (1) K520N (1) K1004N (1) E254D (1)" Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 194 84 30.22 221 88 28.48 0 0 0 ZNF208 2 0 0 19 22156691 22156691 21948531 21948531 Nonsense_Mutation SNP G T TCGA-AB-2890 7 69 NM_007153.3 p.S382* "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" 0 0 0 Novel: Amino Acid -> Known AA = E513D (1) C819C (1) K520N (1) K1004N (1) E254D (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 49 47 48.96 63 47 42.34 0 2 100 ZNF334 1 0 0 20 45131128 45131128 44564535 44564535 Nonsense_Mutation SNP G A TCGA-AB-3012 5 53 NM_018102.3 p.R284* "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" 0 0 0 Novel: Amino Acid -> Known AA = S505S (1) E589G (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0285 0 0.0186 NA NA NA 16 17 51.52 11 11 50 1 6 85.71 ZNF365 1 0 0 10 64159291 64159291 63829297 63829297 Nonsense_Mutation SNP C T TCGA-AB-2990 7 51 NM_014951.2 p.R323* NULL 0 0 0 Novel: Amino Acid -> Known AA = Y102H (1) Novel: Amino Acid NA NA NA NA NA NA 17 11 39.29 12 14 53.85 0 0 0 ZNF43 1 0 0.005 19 21991462 21991462 21783302 21783302 Nonsense_Mutation SNP A T TCGA-AB-2926 9 57 NM_003423.2 p.C459* "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" 0 0 0 Novel: Amino Acid -> Known AA = H780Q (1) R244C (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0285 0 0.0186 NA NA NA 86 69 44.52 76 56 42.42 NA NA NA ZNF432 1 0 0 19 52536999 52536999 57228811 57228811 Nonsense_Mutation SNP G A TCGA-AB-2983 5 45 NM_014650.2 p.R645* "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" 0 0 0 Novel: Amino Acid -> Known AA = C490Y (1) L416V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 23 25 52.08 25 24 48.98 10 8 44.44 ZNF438 1 0 0 10 31138769 31138769 31178775 31178775 Frame_Shift_Del DEL T 0 TCGA-AB-2952 4 60 NM_001143766.1 p.I189fs NULL 0 0 0 Novel: Amino Acid -> Known AA = I539T (1) K381N (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 277 65 18.95 342 84 19.72 3 0 0 ZNF44 1 0 0 19 12383761 12383761 12244761 12244761 Nonsense_Mutation SNP G A TCGA-AB-2838 4 67 NM_016264.3 p.R437* "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" 0 0 0 Novel: Amino Acid -> Known AA = P514A (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 90 74 44.85 118 110 48.03 22 17 43.59 ZNF470 1 0 0 19 57088872 57088872 61780684 61780684 Nonsense_Mutation SNP C T TCGA-AB-2890 7 69 NM_001001668.3 p.R359* "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" 0 0 0 Novel: Amino Acid -> Known AA = R675M (1) D221G (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 48 43 47.25 44 43 49.43 3 3 50 ZNF471 1 0 0 19 57036954 57036967 61728766 61728779 Frame_Shift_Del DEL GAGAATTCATACTG 0 TCGA-AB-2888 4 57 NM_020813.2 p.I508fs "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" 0 0 0 Novel: Amino Acid -> Known AA = F361C (1) E540E (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 115 18 13.53 132 13 8.97 NA NA NA ZNF479 1 0 0 7 57188132 57188132 57192074 57192074 Nonsense_Mutation SNP A T TCGA-AB-2909 9 22 NM_033273.1 p.C330* "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" 0 0 0 Novel: Amino Acid -> Known AA = G471S (1) G167R (1) E29K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 96 81 45.76 69 43 38.39 0 0 0 ZNF486 4 0 0.005 19 20308149 20308149 20169149 20169149 Nonsense_Mutation SNP C G TCGA-AB-2826 5 64 NM_052852.2 p.Y210* "HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667" rs184976796 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = H112Y (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.6175 0.2206 0.4816 0.004 0 0.0037 139 142 50.35 251 173 40.8 2 10 83.33 ZNF486 4 0 0.005 19 20308149 20308149 20169149 20169149 Nonsense_Mutation SNP C G TCGA-AB-2843 10 77 NM_052852.2 p.Y210* "HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667" rs184976796 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = H112Y (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.6175 0.2206 0.4816 0.004 0 0.0037 50 49 49.49 39 26 40 2 0 0 ZNF486 4 0 0.005 19 20308149 20308149 20169149 20169149 Nonsense_Mutation SNP C G TCGA-AB-2842 7 64 NM_052852.2 p.Y210* "HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667" rs184976796 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = H112Y (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.6175 0.2206 0.4816 0.004 0 0.0037 149 146 49.32 86 82 48.52 2 0 0 ZNF486 4 0 0.005 19 20308149 20308149 20169149 20169149 Nonsense_Mutation SNP C G TCGA-AB-2870 5 76 NM_052852.2 p.Y210* "HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667" rs184976796 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = H112Y (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.6175 0.2206 0.4816 0.004 0 0.0037 80 58 42.03 64 71 52.59 7 8 53.33 ZNF488 1 0 0 10 48370726 48370726 47990732 47990732 Frame_Shift_Del DEL C 0 TCGA-AB-2875 5 43 NM_153034.2 p.A65fs NULL 0 0 0 Novel: Amino Acid -> Known AA = L192M (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 46 15 24.59 71 24 25.26 0 0 0 ZNF491 1 0 0 19 11918024 11918027 11779024 11779027 Frame_Shift_Del DEL CCTT 0 TCGA-AB-3011 2 21 NM_152356.3 p.I421fs "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" 0 0 0 Novel: Amino Acid -> Known AA = G239V (1) F135I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 35 11 23.91 58 27 31.76 4 0 0 ZNF493 2 0 0 19 21606719 21606720 21398559 21398560 Frame_Shift_Del DEL CT 0 TCGA-AB-2921 6 55 NM_001076678.2 p.L420fs "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" 0 0 0 Novel: Amino Acid -> Known AA = S513Y (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 180 75 29.41 203 86 29.66 23 4 8.89 ZNF493 2 0 0 19 21607295 21607295 21399135 21399135 Nonsense_Mutation SNP C T TCGA-AB-2935 7 66 NM_001076678.2 p.R612* "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" 0 0 0 Novel: Amino Acid -> Known AA = S513Y (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 199 193 49.11 142 115 44.75 25 12 32.43 ZNF497 1 0 0 19 58868302 58868302 63560114 63560114 Frame_Shift_Del DEL G 0 TCGA-AB-2900 13 70 NM_198458.1 p.L234fs "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" 0 0 0 Novel: Amino Acid -> Known AA = D278N (1) Q433L (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 4 4 50 9 6 40 NA NA NA ZNF528 1 0 0 19 52918485 52918485 57610297 57610297 Frame_Shift_Del DEL G 0 TCGA-AB-2811 7 81 NM_032423.2 p.I129fs NULL 0 0 0 Novel: Amino Acid -> Known AA = Q175K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 31 11 26.19 60 27 31.03 9 0 0 ZNF546 1 0 0 19 40521032 40521032 45212872 45212872 Nonsense_Mutation SNP C T TCGA-AB-2832 5 59 NM_178544.3 p.R619* "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" 0 0 0 Novel: Amino Acid -> Known AA = V770V (1) S70C (1) L15V (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 30 53 63.86 23 27 54 4 4 50 ZNF548 1 0 0.005 19 57910510 57910511 62602322 62602323 Frame_Shift_Del DEL AT 0 TCGA-AB-2918 6 47 NM_152909.3 p.C286fs "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" 0 0 0 Novel: Amino Acid -> Known AA = D24Y (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 464 195 29.5 146 48 24.74 NA NA NA ZNF560 1 0 0 19 9577933 9577933 9438933 9438933 Nonsense_Mutation SNP G A TCGA-AB-2845 12 37 NM_152476.2 p.R564* "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" 0 0 0 Novel: Amino Acid -> Known AA = K626K (1) G150C (1) G186E (1) I277L (1) Novel: Amino Acid - OMIM Gene Name Not Found 0.0142 0 0.0093 NA NA NA 165 211 55.97 119 114 48.93 0 0 0 ZNF585B 2 0 0 19 37677585 37677588 42369425 42369428 Frame_Shift_Del DEL AATT 0 TCGA-AB-2924 4 59 NM_152279.3 p.Q284fs "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" 0 0 0 Novel: Amino Acid -> Known AA = Y130C (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 430 113 20.81 899 345 27.69 2 0 0 ZNF585B 2 0 0 19 37681054 37681054 42372894 42372894 Splice_Site SNP T C TCGA-AB-2821 5 64 NM_152279.3 e2-2 0 0 0 0 Novel: Amino Acid -> Known AA = Y130C (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 187 159 45.95 170 162 48.8 6 12 66.67 ZNF589 1 0 0 3 48309944 48309944 48284948 48284948 Nonsense_Mutation SNP C T TCGA-AB-2862 5 33 NM_016089.2 p.R255* "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" 0 0 0 Novel: Amino Acid -> Known AA = G340V (1) Novel: Amino Acid - OMIM Gene Name Not Found 0 0.1874 0.0651 0 0.002 0.0005 68 52 42.98 197 115 36.51 NA NA NA ZNF610 1 0 0 19 52869540 52869541 57561352 57561353 Frame_Shift_Ins INS 0 A TCGA-AB-2820 6 76 NM_173530.2 p.T303fs "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" 0 0 0 Novel: Amino Acid -> Known AA = I31I (1) V308I (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 135 58 42.65 203 126 60.58 2 0 0 ZNF613 1 0 0 19 52448890 52448893 57140702 57140705 Frame_Shift_Del DEL TAAC 0 TCGA-AB-2900 13 70 NM_001031721.3 p.N587fs NULL 0 0 0 "Novel, but near match: Amino Acid -> Known AA for Gene = L585L (1)" Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 99 37 27.21 73 27 27 NA NA NA ZNF615 1 0 0 19 52497239 52497239 57189051 57189051 Nonsense_Mutation SNP G A TCGA-AB-2990 7 51 NM_198480.2 p.R364* "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" 0 0 0 Novel: Amino Acid -> Known AA = A716G (1) H259Y (1) F645I (1) R706K (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 9 15 62.5 25 16 39.02 2 6 75 ZNF648 1 0 0.005 1 182026620 182026621 180293243 180293244 Frame_Shift_Del DEL CA 0 TCGA-AB-2993 4 57 NM_001009992.1 p.H177fs NULL 0 0 0 Novel: Amino Acid -> Known AA = N32S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 15 10 40 17 7 29.17 4 1 20 ZNF671 1 0 0 19 58238758 58238758 62930570 62930570 Splice_Site SNP C A TCGA-AB-2900 13 70 NM_024833.2 e1+1 0 0 0 0 Novel: Amino Acid -> Known AA = A159S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 8 15 65.22 7 4 36.36 NA NA NA ZNF674 1 0 0 X 46360423 46360423 46245367 46245367 Nonsense_Mutation SNP G A TCGA-AB-2993 4 57 NM_001039891.2 p.R201* NULL rs182004761 by-1000genomes "1000GENOMES," Novel: Amino Acid -> Known AA = S565L (1) E84K (1) Novel: Amino Acid 0.6962 0.1604 0.5219 0 0 0 13 16 55.17 10 10 50 8 0 0 ZNF77 1 0 0 19 2934365 2934366 2885365 2885366 Frame_Shift_Ins INS 0 G TCGA-AB-2825 9 31 NM_021217.2 p.Y253fs "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" 0 0 0 Novel: Amino Acid -> Known AA = R508H (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 174 70 39.77 154 67 42.14 10 5 50 ZNF835 1 0 0 19 57176539 57176539 61868351 61868351 Nonsense_Mutation SNP G A TCGA-AB-2900 13 70 NM_001005850.1 p.Q32* NULL 0 0 0 Novel: Amino Acid -> Known AA = D98D (1) V62V (1) G334fs* (1) G502G (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 35 24 40.68 59 49 45.37 NA NA NA ZNF90 1 0 0 19 20229262 20229262 20090262 20090262 Frame_Shift_Del DEL T 0 TCGA-AB-2965 7 60 NM_007138.1 p.Y301fs "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" 0 0 0 Novel: Amino Acid -> Known AA = T64T (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 42 20 32.26 48 23 32.39 0 0 0 ZNF99 1 0 0.005 19 22942429 22942430 22734269 22734270 Frame_Shift_Ins INS 0 G TCGA-AB-2803 3 61 NM_001080409.1 p.Q117fs NULL 0 0 0 Novel: Amino Acid -> Known AA = A398S (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 49 22 44 28 15 53.57 1 0 0 ZNFX1 1 0 0 20 47865124 47865124 47298531 47298531 Nonsense_Mutation SNP G T TCGA-AB-2910 4 61 NM_021035.2 p.C1479* "HMMPfam_zf-NF-X1,HMMSmart_SM00438" 0 0 0 Novel: Amino Acid -> Known AA = F1453C (1) R1180G (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 18 9 33.33 41 31 43.06 47 42 47.19 ZSWIM2 2 0 0 2 187713710 187713710 187421955 187421955 Frame_Shift_Del DEL C 0 TCGA-AB-2872 6 42 NM_182521.2 p.E50fs NULL 0 0 0 "Novel, but near match: Amino Acid -> Known AA for Gene = E48* (1) K546R (1)" Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 40 22 35.48 109 51 31.87 0 0 0 ZSWIM2 2 0 0 2 187709443 187709443 187417688 187417688 Splice_Site SNP C T TCGA-AB-2899 7 76 NM_182521.2 e3+1 0 0 0 0 Novel: Amino Acid -> Known AA = E48* (1) K546R (1) Novel: Amino Acid - OMIM Gene Name Not Found NA NA NA NA NA NA 45 24 34.29 58 50 46.3 0 0 0