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
ATP10B	2	0	0.01	5	160113099	160113099	160045677	160045677	Nonsense_Mutation	SNP	G	A	TCGA-AB-2931	1	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	1	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
CMYA5	1	0	0.01	5	79041099	79041099	79076855	79076855	Nonsense_Mutation	SNP	A	T	TCGA-AB-2819	3	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
CNTN5	1	0	0.01	11	99690497	99690497	99195707	99195707	Splice_Site	SNP	G	A	TCGA-AB-3005	2	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	1	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
DDX11	2	0	0.01	12	31255428	31255429	31146695	31146696	Frame_Shift_Ins	INS	0	T	TCGA-AB-2849	1	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	1	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
DIS3	1	0	0.015	13	73355096	73355096	72253097	72253097	Nonsense_Mutation	SNP	G	A	TCGA-AB-2819	3	52	NM_014953.3	p.Q92*	"HMMSmart_SM00670,superfamily_PIN domain-like"	0	0	0	Novel: Gene DIS3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.0142	0	0.0093	NA	NA	NA	32	33	50.77	28	27	49.09	8	7	46.67
DNAH5	2	0	0.01	5	13701398	13701398	13754398	13754398	Nonsense_Mutation	SNP	G	A	TCGA-AB-2947	2	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	1	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
DNAI1	1	0	0.01	9	34517466	34517466	34507466	34507466	Splice_Site	SNP	G	A	TCGA-AB-2819	3	52	NM_012144.2	e19+1	0	0	0	0	Novel: Gene DNAI1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	31	21	40.38	26	17	39.53	0	0	0
DST	1	0	0.01	6	56480857	56480858	56588816	56588817	Frame_Shift_Ins	INS	0	G	TCGA-AB-2826	2	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
DYSF	2	0	0.015	2	71766369	71766369	71619877	71619877	Nonsense_Mutation	SNP	G	T	TCGA-AB-2990	1	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	1	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
ETV6	1	X	0.01	12	11992215	11992216	11883482	11883483	Frame_Shift_Ins	INS	0	TCCC	TCGA-AB-2909	1	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
FAM154B	3	0	0.01	15	82574734	82574735	80361789	80361790	Frame_Shift_Del	DEL	AC	0	TCGA-AB-2925	1	57	NM_001008226.1	p.R177fs	NULL	0	0	0	Novel: Gene FAM154B in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	96	42	30.43	128	42	24.71	0	0	0
FAM154B	3	0	0.01	15	82574734	82574735	80361789	80361790	Frame_Shift_Del	DEL	AC	0	TCGA-AB-2830	1	64	NM_001008226.1	p.R177fs	NULL	0	0	0	Novel: Gene FAM154B in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	74	27	26.73	123	42	25.45	0	0	0
FAM154B	3	0	0.01	15	82574734	82574735	80361789	80361790	Frame_Shift_Del	DEL	AC	0	TCGA-AB-2850	1	72	NM_001008226.1	p.R177fs	NULL	0	0	0	Novel: Gene FAM154B in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	40	14	25.45	80	40	32.79	NA	NA	NA
FCGBP	2	0	0.025	19	40408527	40408537	45100367	45100377	Frame_Shift_Del	DEL	TCCCCGGCGGG	0	TCGA-AB-2845	1	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	1	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
FLG	6	0	0.015	1	152276477	152276477	150543101	150543101	Frame_Shift_Del	DEL	G	0	TCGA-AB-2947	2	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	1	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	1	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	1	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	1	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	1	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
FRYL	2	0	0.01	4	48523178	48523178	48217935	48217935	Frame_Shift_Del	DEL	G	0	TCGA-AB-2941	1	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	1	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
HYDIN	1	0	0.01	16	70975538	70975538	69533039	69533039	Splice_Site	SNP	C	G	TCGA-AB-2810	1	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
IDH1	1	X	0.095	2	209116206	209116206	208824451	208824451	Nonsense_Mutation	SNP	C	A	TCGA-AB-2839	1	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
KCNU1	3	0	0.02	8	36664952	36664952	36784110	36784110	Nonsense_Mutation	SNP	C	T	TCGA-AB-3006	1	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	1	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	1	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
KIAA1683	1	0	0.015	19	18375346	18375346	18236346	18236346	Nonsense_Mutation	SNP	G	A	TCGA-AB-2968	1	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
MEGF8	1	0	0.01	19	42840969	42840969	47532809	47532809	Nonsense_Mutation	SNP	C	T	TCGA-AB-2828	1	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
MUC16	2	0	0.025	19	9082399	9082400	8943399	8943400	Frame_Shift_Del	DEL	CT	0	TCGA-AB-2818	1	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	1	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
MYOM3	3	0	0.01	1	24390613	24390613	24263200	24263200	Frame_Shift_Del	DEL	C	0	TCGA-AB-3005	2	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	1	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	1	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
NALCN	1	0	0.01	13	101828705	101828708	100626706	100626709	Frame_Shift_Del	DEL	AACA	0	TCGA-AB-2827	1	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
PKHD1L1	7	0	0.01	8	110416931	110416931	110486107	110486107	Nonsense_Mutation	SNP	C	T	TCGA-AB-3012	1	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	1	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	2	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	1	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	1	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	1	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	1	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
PLEKHH1	1	0	0.01	14	68048914	68048914	67118667	67118667	Frame_Shift_Del	DEL	C	0	TCGA-AB-2936	1	60	NM_020715.2	p.L1139fs	"HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295"	0	0	0	Novel: Gene PLEKHH1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	35	17	32.69	30	14	31.11	1	0	0
PPP1R3A	4	0	0.01	7	113519161	113519162	113306397	113306398	Frame_Shift_Del	DEL	CT	0	TCGA-AB-2991	1	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	1	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	1	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	1	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
RNF213	1	X	0.01	17	78272124	78272124	75886719	75886719	Nonsense_Mutation	SNP	G	A	TCGA-AB-2924	1	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
SYT15	2	0	0.01	10	46962114	46962114	46382120	46382120	Splice_Site	SNP	T	C	TCGA-AB-2911	1	51	NM_031912.3	e8-2	0	0	0	0	Novel: Gene SYT15 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.1162	0.0281	0.0862	NA	NA	NA	36	15	29.41	51	23	31.08	0	0	0
SYT15	2	0	0.01	10	46968675	46968679	46388681	46388685	Frame_Shift_Del	DEL	ATCTC	0	TCGA-AB-2956	1	61	NM_031912.3	p.R86fs	NULL	0	0	0	Novel: Gene SYT15 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	114	14	10.85	114	20	14.71	NA	NA	NA
TET2	1	X	0.16	4	106157821	106157821	106377270	106377270	Frame_Shift_Del	DEL	G	0	TCGA-AB-2873	1	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
WT1	1	X	0.065	11	32417947	32417948	32374523	32374524	Frame_Shift_Ins	INS	0	C	TCGA-AB-2856	1	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