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