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	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
CCNL2	1	0	0	1	1326173	1326173	1316036	1316036	Nonsense_Mutation	SNP	G	T	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
ATAD3B	1	0	0	1	1425737	1425737	1415600	1415600	Nonsense_Mutation	SNP	G	T	NM_031921.4	p.E480*	"HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases"	0	0	0	Novel: Gene ATAD3B in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0	0	0.0005	5	4	44.44	8	8	50	11	10	47.62
MEGF6	1	0	0	1	3428569	3428569	3418429	3418429	Splice_Site	SNP	C	T	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
WDR8	1	0	0	1	3551848	3551848	3541708	3541708	Frame_Shift_Del	DEL	A	0	NM_017818.3	p.L205fs	"HMMSmart_SM00320,superfamily_C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase"	0	0	0	Novel: Gene WDR8 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	32	16	33.33	27	14	33.33	34	9	20.45
KIAA0562	1	0	0	1	3745890	3745893	3735750	3735753	Frame_Shift_Del	DEL	TTCT	0	NM_014704.3	p.E697fs	NULL	0	0	0	Novel: Gene KIAA0562 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	115	46	28.57	160	47	22.38	1	0	0
PLEKHG5	3	0	0.005	1	6529190	6529191	6451777	6451778	Frame_Shift_Del	DEL	CC	0	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	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	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
TAS1R1	1	0	0.005	1	6639188	6639188	6561775	6561775	Frame_Shift_Del	DEL	G	0	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
TNFRSF9	1	0	0	1	7997763	7997763	7920350	7920350	Nonsense_Mutation	SNP	G	A	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
ERRFI1	1	0	0	1	8073461	8073461	7996048	7996048	Nonsense_Mutation	SNP	G	A	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
LZIC	1	0	0	1	9992908	9992908	9915495	9915495	Nonsense_Mutation	SNP	G	A	NM_032368.3	p.Q129*	"HMMPfam_ICAT,superfamily_beta-catenin-interacting protein ICAT"	0	0	0	Novel: Gene LZIC in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	76	93	55.03	51	43	45.26	17	3	15
UBE4B	1	0	0	1	10166599	10166599	10089186	10089186	Frame_Shift_Del	DEL	G	0	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
PTCHD2	1	0	0	1	11561653	11561653	11484240	11484240	Nonsense_Mutation	SNP	C	T	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
PRAMEF12	1	0	0	1	12837330	12837334	12759917	12759921	Frame_Shift_Del	DEL	AGGCC	0	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
HNRNPCL1	1	0	0	1	12908024	12908024	12830611	12830611	Frame_Shift_Del	DEL	T	0	NM_001013631.1	p.Y40fs	"HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD"	0	0	0	Novel: Gene HNRNPCL1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	324	51	13.49	271	49	15.22	1	0	0
PRAMEF5	1	0	0	1	13365842	13365842	13238429	13238429	Splice_Site	SNP	A	T	NM_001013407.1	e2-2	0	0	0	0	Novel: Gene PRAMEF5 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	3	4	57.14	0	1	100	0	0	0
PRAMEF13	1	0	0	1	13448406	13448406	13320993	13320993	Nonsense_Mutation	SNP	C	A	NM_001024661.1	p.E357*	superfamily_SSF52047	0	0	0	Novel: Gene PRAMEF13 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	46	43	48.31	70	54	43.55	0	0	0
PRDM2	1	0	0	1	14105139	14105140	13977726	13977727	Frame_Shift_Del	DEL	TG	0	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
CELA2B	1	0	0	1	15812542	15812542	15685129	15685129	Splice_Site	SNP	G	A	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
CLCNKA	1	0	0	1	16358742	16358742	16231329	16231329	Nonsense_Mutation	SNP	C	T	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
PADI1	1	0	0	1	17548882	17548882	17421469	17421469	Frame_Shift_Del	DEL	G	0	NM_013358.2	p.G64fs	"superfamily_Cupredoxins,HMMPfam_PAD_N"	0	0	0	Novel: Gene PADI1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	226	97	29.94	89	34	27.2	0	0	0
PADI3	1	0	0	1	17596727	17596727	17469314	17469314	Splice_Site	SNP	G	A	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
TMCO4	2	0	0	1	20021024	20021025	19893611	19893612	Frame_Shift_Del	DEL	AA	0	NM_181719.4	p.F468fs	HMMPfam_DUF726	0	0	0	Novel: Gene TMCO4 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	854	316	26.71	530	182	25.28	5	0	0
TMCO4	2	0	0	1	20021024	20021025	19893611	19893612	Frame_Shift_Del	DEL	AA	0	NM_181719.4	p.F468fs	HMMPfam_DUF726	0	0	0	Novel: Gene TMCO4 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	184	79	29.7	132	106	43.8	0	0	0
EPHA8	1	0	0.005	1	22927582	22927582	22800169	22800169	Splice_Site	SNP	G	A	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
MYOM3	3	0	0.01	1	24390613	24390613	24263200	24263200	Frame_Shift_Del	DEL	C	0	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	24390613	24390613	24263200	24263200	Frame_Shift_Del	DEL	C	0	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	24418758	24418758	24291345	24291345	Nonsense_Mutation	SNP	G	A	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
IL28RA	1	0	0	1	24485597	24485597	24358184	24358184	Nonsense_Mutation	SNP	C	T	NM_170743.2	p.W249*	NULL	0	0	0	Novel: Gene IL28RA in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	50	79	61.24	96	91	48.66	0	0	0
PAQR7	1	0	0	1	26189433	26189433	26062020	26062020	Nonsense_Mutation	SNP	G	A	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
UBXN11	1	0	0	1	26609355	26609356	26481942	26481943	Frame_Shift_Del	DEL	CT	0	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
SMPDL3B	1	0	0	1	28280909	28280909	28153496	28153496	Nonsense_Mutation	SNP	C	T	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
MED18	1	0	0	1	28657231	28657231	28529818	28529818	Nonsense_Mutation	SNP	G	T	NM_001127350.1	p.E20*	HMMPfam_Med18	0	0	0	Novel: Gene MED18 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	11	7	38.89	19	13	40.62	4	10	71.43
DNALI1	1	0	0	1	38022616	38022617	37795203	37795204	Frame_Shift_Del	DEL	TT	0	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
INPP5B	2	0	0	1	38397630	38397631	38170217	38170218	Frame_Shift_Ins	INS	0	A	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
INPP5B	2	0	0	1	38397630	38397631	38170217	38170218	Frame_Shift_Ins	INS	0	A	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
TRIT1	1	0	0	1	40319722	40319722	40092309	40092309	Frame_Shift_Del	DEL	G	0	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
DEM1	1	0	0	1	40980308	40980309	40752895	40752896	Frame_Shift_Ins	INS	0	A	NM_022774.1	p.E32fs	NULL	0	0	0	Novel: Gene DEM1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	43	21	46.67	32	13	40.62	NA	NA	NA
DPH2	1	0	0	1	44437590	44437590	44210177	44210177	Nonsense_Mutation	SNP	T	G	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
MMACHC	3	0	0	1	45973216	45973217	45745803	45745804	Frame_Shift_Ins	INS	0	A	NM_015506.2	p.R90fs	NULL	0	0	0	Novel: Gene MMACHC in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	77	41	53.25	55	22	39.29	1	0	0
MMACHC	3	0	0	1	45974495	45974495	45747082	45747082	Nonsense_Mutation	SNP	C	T	NM_015506.2	p.R153*	NULL	0	0	0	Novel: Gene MMACHC in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	27	21	43.75	26	27	50.94	3	9	75
MMACHC	3	0	0	1	45974834	45974835	45747421	45747422	Frame_Shift_Ins	INS	0	C	NM_015506.2	p.R267fs	NULL	0	0	0	Novel: Gene MMACHC in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	296	150	50.68	465	165	35.11	6	0	0
AKR1A1	1	0	0	1	46032296	46032296	45804883	45804883	Frame_Shift_Del	DEL	C	0	NM_006066.2	p.A47fs	"HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase,PatternScan_ALDOKETO_REDUCTASE_1"	0	0	0	Novel: Gene AKR1A1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	23	12	34.29	36	13	26.53	4	0	0
CCDC17	1	0	0	1	46086774	46086774	45859361	45859361	Frame_Shift_Del	DEL	G	0	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
PIK3R3	1	0	0	1	46597617	46597618	46370204	46370205	Frame_Shift_Ins	INS	0	TGTA	NM_001114172.1	p.N3fs	NULL	0	0	0	Novel: Gene PIK3R3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	36	16	42.11	39	16	40	NA	NA	NA
CYP4B1	2	0	0	1	47276857	47276857	47049444	47049444	Splice_Site	SNP	G	T	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	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
NRD1	1	0	0	1	52283740	52283740	52056328	52056328	Nonsense_Mutation	SNP	G	C	NM_002525.2	p.Y521*	HMMPfam_Peptidase_M16_C	0	0	0	Novel: Gene NRD1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	17	14	45.16	13	6	31.58	NA	NA	NA
ECHDC2	2	0	0	1	53370727	53370728	53143315	53143316	Frame_Shift_Ins	INS	0	C	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	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
CPT2	1	0	0	1	53676584	53676585	53449172	53449173	Frame_Shift_Del	DEL	AG	0	NM_000098.2	p.K414fs	"HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases"	0	0	0	Novel: Gene CPT2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	117	55	31.61	77	32	29.09	8	3	27.27
FAM151A	1	0	0	1	55076138	55076166	54848726	54848754	Frame_Shift_Del	DEL	CACTCCACATTCAGACCGTCATCCCCAGG	0	NM_176782.2	p.P335fs	NULL	0	0	0	Novel: Gene FAM151A in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	76	12	13.64	69	9	11.54	NA	NA	NA
TTC4	1	0	0	1	55181590	55181591	54954178	54954179	Frame_Shift_Del	DEL	AC	0	NM_004623.3	p.Q3fs	NULL	0	0	0	Novel: Gene TTC4 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	13	8	38.1	48	16	25	11	5	27.78
PCSK9	1	0	0	1	55523003	55523003	55295591	55295591	Splice_Site	SNP	G	C	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
C8A	1	0	0	1	57351719	57351719	57124307	57124307	Nonsense_Mutation	SNP	C	A	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
L1TD1	5	0	0	1	62676225	62676226	62448813	62448814	Frame_Shift_Del	DEL	AC	0	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	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	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	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	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
KANK4	4	0	0	1	62733958	62733958	62506546	62506546	Splice_Site	DEL	C	0	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
KANK4	4	0	0	1	62733958	62733958	62506546	62506546	Splice_Site	DEL	C	0	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	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	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
ANGPTL3	1	0	0	1	63063593	63063597	62836181	62836185	Frame_Shift_Del	DEL	AACTC	0	NM_014495.2	p.N121fs	NULL	0	0	0	Novel: Gene ANGPTL3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	170	70	28.81	230	96	29.18	NA	NA	NA
ATG4C	1	0	0.005	1	63269511	63269511	63042099	63042099	Frame_Shift_Del	DEL	T	0	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
LRRC40	1	0	0.005	1	70639322	70639322	70411910	70411910	Nonsense_Mutation	SNP	G	A	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
PTGER3	1	0	0	1	71418662	71418662	71191250	71191250	Frame_Shift_Del	DEL	G	0	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
CRYZ	1	0	0	1	75190433	75190433	74963021	74963021	Nonsense_Mutation	SNP	G	A	NM_001130042.1	p.R25*	superfamily_GroES_like	0	0	0	Novel: Gene CRYZ 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	189	156	45.22	158	121	43.37	NA	NA	NA
PTGFR	1	0	0	1	79002214	79002214	78774802	78774802	Nonsense_Mutation	SNP	C	T	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
SYDE2	1	0	0	1	85647952	85647952	85420540	85420540	Frame_Shift_Del	DEL	T	0	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
COL24A1	1	0	0	1	86590968	86590968	86363556	86363556	Frame_Shift_Del	DEL	C	0	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
CLCA4	2	0	0	1	87038389	87038389	86810977	86810977	Nonsense_Mutation	SNP	C	T	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	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
GBP7	1	0	0	1	89616181	89616181	89388769	89388769	Frame_Shift_Del	DEL	C	0	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
GBP5	2	0	0	1	89729465	89729466	89502053	89502054	Frame_Shift_Del	DEL	TC	0	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	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
EVI5	1	0	0	1	93089892	93089892	92862480	92862480	Splice_Site	SNP	C	T	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
CCDC18	1	0	0	1	93672839	93672839	93445427	93445427	Nonsense_Mutation	SNP	C	T	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
LRRC39	1	0	0	1	100626087	100626093	100398675	100398681	Frame_Shift_Del	DEL	GCTTGGT	0	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
GNAT2	1	0	0	1	110152716	110152719	109954239	109954242	Frame_Shift_Del	DEL	AGCC	0	NM_005272.3	p.A83fs	"HMMPfam_G-alpha,superfamily_Transducin (alpha subunit) insertion domain,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases"	0	0	0	Novel: Gene GNAT2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	229	79	25.4	285	100	25.71	1	0	0
KCNA10	1	0	0	1	111060597	111060597	110862120	110862120	Frame_Shift_Del	DEL	G	0	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
FAM19A3	1	0	0	1	113269253	113269253	113070776	113070776	Nonsense_Mutation	SNP	C	G	NM_001004440.1	p.S154*	NULL	0	0	0	Novel: Gene FAM19A3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	47	42	47.19	34	22	39.29	0	0	0
AP4B1	1	0	0	1	114441377	114441378	114242900	114242901	Frame_Shift_Del	DEL	TG	0	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
WDR3	1	0	0	1	118479485	118479485	118281008	118281008	Nonsense_Mutation	SNP	C	T	NM_006784.2	p.R159*	"HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40"	0	0	0	Novel: Gene WDR3 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	154	94	37.75	274	142	34.13	34	6	15
SPAG17	2	0	0	1	118579433	118579433	118380956	118380956	Nonsense_Mutation	SNP	G	T	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	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
HSD3B2	1	0	0	1	119958057	119958057	119759580	119759580	Nonsense_Mutation	SNP	C	A	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
NBPF7	1	0	0	1	120382888	120382888	120184411	120184411	Frame_Shift_Del	DEL	A	0	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
NBPF10	1	0	0	1	145359189	145359189	144070546	144070546	Splice_Site	SNP	T	C	NM_001039703.4	e74+2	0	0	0	0	Novel: Gene NBPF10 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	1591	312	13.77	1318	245	13	0	1	20
LIX1L	1	0	0	1	145487468	145487468	144198825	144198825	Splice_Site	SNP	G	C	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
ANKRD35	1	0	0	1	145561836	145561837	144273193	144273194	Frame_Shift_Ins	INS	0	G	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
NUDT17	1	0	0	1	145587719	145587719	144299076	144299076	Splice_Site	SNP	C	T	NM_001012758.2	e5+1	0	0	0	0	Novel: Gene NUDT17 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	9	11	55	14	13	48.15	NA	NA	NA
GPR89B	1	0	0	1	147415586	147415587	145882210	145882211	Frame_Shift_Ins	INS	0	T	NM_016334.3	p.I82fs	NULL	0	0	0	Novel: Gene GPR89B in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	67	19	26.76	122	57	44.88	22	6	27.27
NBPF14	1	0	0	1	148004780	148004780	146471404	146471404	Frame_Shift_Del	DEL	A	0	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
MTMR11	1	0	0	1	149902791	149902791	148169415	148169415	Nonsense_Mutation	SNP	C	A	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
CGN	1	0	0.005	1	151492666	151492666	149759290	149759290	Nonsense_Mutation	SNP	C	T	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
TUFT1	1	0	0.005	1	151512903	151512903	149779527	149779527	Splice_Site	SNP	G	A	NM_020127.2	e1+1	0	0	0	0	Novel: Gene TUFT1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	44	41	48.24	38	53	58.24	1	0	0
THEM5	1	0	0	1	151819891	151819891	150086515	150086515	Splice_Site	SNP	C	G	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
HRNR	1	0	0	1	152191214	152191214	150457838	150457838	Nonsense_Mutation	SNP	G	C	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
FLG	6	0	0.015	1	152276477	152276477	150543101	150543101	Frame_Shift_Del	DEL	G	0	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	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	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	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	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	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	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	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	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
CRNN	1	0	0	1	152383380	152383386	150650004	150650010	Frame_Shift_Del	DEL	GACGCAG	0	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
SPRR2E	1	0	0	1	153066215	153066215	151332839	151332839	Nonsense_Mutation	SNP	G	A	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
PGLYRP3	1	0	0	1	153275063	153275063	151541687	151541687	Nonsense_Mutation	SNP	G	A	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	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
S100A1	1	0	0	1	153600973	153600973	151867597	151867597	Splice_Site	SNP	G	A	NM_006271.1	e0+1	0	0	0	0	Novel: Gene S100A1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	17	12	41.38	15	12	44.44	NA	NA	NA
HAX1	2	0	0	1	154245849	154245849	152512473	152512473	Frame_Shift_Del	DEL	G	0	NM_006118.3	p.E31fs	NULL	0	0	0	Novel: Gene HAX1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	192	80	29.41	98	42	29.58	17	0	0
HAX1	2	0	0	1	154246248	154246248	152512872	152512872	Splice_Site	SNP	A	G	NM_006118.3	e3-2	0	0	0	0	Novel: Gene HAX1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	0	0.0268	0.0093	NA	NA	NA	244	208	46.02	115	111	49.12	0	3	100
PBXIP1	1	0	0	1	154924390	154924393	153191014	153191017	Frame_Shift_Del	DEL	GGCA	0	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
ADAM15	1	0	0	1	155028330	155028330	153294954	153294954	Splice_Site	SNP	T	C	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
RAG1AP1	1	0	0	1	155109367	155109370	153375991	153375994	Frame_Shift_Del	DEL	AGTG	0	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
THBS3	1	0	0	1	155175992	155175992	153442616	153442616	Frame_Shift_Del	DEL	T	0	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
MSTO1	1	0	0	1	155580877	155580877	153847501	153847501	Nonsense_Mutation	SNP	C	T	NM_018116.2	p.Q90*	"HMMPfam_Misat_Myo_SegII,superfamily_Tubulin nucleotide-binding domain-like"	0	0	0	Novel: Gene MSTO1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	41	14	25.45	35	13	27.08	8	4	33.33
RAB25	1	0	0.005	1	156035856	156035856	154302480	154302480	Nonsense_Mutation	SNP	G	A	NM_020387.2	p.W66*	"HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540"	rs190300474	by-1000genomes	"1000GENOMES,"	Novel: Gene RAB25 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.0575	0	0.0378	0	0	0.0005	17	22	55	10	9	47.37	0	0	0
BGLAP	1	0	0	1	156212605	156212605	154479229	154479229	Nonsense_Mutation	SNP	C	G	NM_199173.3	p.Y52*	HMMSmart_SM00069	0	0	0	Novel: Gene BGLAP in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	8	9	52.94	15	8	34.78	7	5	41.67
SPTA1	2	0	0	1	158607836	158607836	156874460	156874460	Nonsense_Mutation	SNP	C	A	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	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
MNDA	1	0	0.005	1	158817615	158817618	157084239	157084242	Frame_Shift_Del	DEL	AGAA	0	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
ATP1A4	1	0	0	1	160133990	160133990	158400614	158400614	Frame_Shift_Del	DEL	A	0	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
UFC1	1	0	0	1	161126779	161126779	159393403	159393403	Nonsense_Mutation	SNP	C	T	NM_016406.3	p.R55*	HMMPfam_UFC1	0	0	0	Novel: Gene UFC1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	98	82	45.56	159	66	29.2	87	20	18.69
OLFML2B	1	0	0	1	161970059	161970059	160236683	160236683	Nonsense_Mutation	SNP	G	A	NM_015441.1	p.R265*	NULL	0	0	0	Novel: Gene OLFML2B in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	84	84	50	21	52	71.23	2	2	50
POGK	1	0	0	1	166816781	166816781	165083405	165083405	Nonsense_Mutation	SNP	G	T	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
TNFSF18	2	0	0	1	173020073	173020073	171286696	171286696	Nonsense_Mutation	SNP	A	T	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	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
XPR1	1	0	0	1	180775219	180775219	179041842	179041842	Nonsense_Mutation	SNP	C	T	NM_004736.3	p.R157*	HMMPfam_SPX	0	0	0	Novel: Gene XPR1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	23	23	50	11	13	54.17	NA	NA	NA
KIAA1614	2	0	0	1	180910180	180910180	179176803	179176803	Splice_Site	SNP	G	C	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
KIAA1614	2	0	0	1	180910180	180910180	179176803	179176803	Splice_Site	SNP	G	C	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
ZNF648	1	0	0.005	1	182026620	182026621	180293243	180293244	Frame_Shift_Del	DEL	CA	0	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
GLUL	1	0	0	1	182357722	182357723	180624345	180624346	Frame_Shift_Ins	INS	0	CT	NM_001033044.2	p.P50fs	"HMMPfam_Gln-synt_N,superfamily_Glutamine synthetase N-terminal domain"	0	0	0	Novel: Gene GLUL in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	188	72	36.18	296	116	38.93	64	25	39.06
RGSL1	1	0	0	1	182443603	182443603	180710226	180710226	Nonsense_Mutation	SNP	C	T	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	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
NPL	1	0	0	1	182783991	182783995	181050614	181050618	Splice_Site	DEL	AAGGT	0	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
CFHR3	1	0	0	1	196748929	196748929	195015552	195015552	Nonsense_Mutation	SNP	A	T	NM_021023.5	p.K86*	superfamily_Complement_control_module	0	0	0	Novel: Gene CFHR3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	12	13	52	10	8	44.44	19	0	0
PTPN7	1	0	0	1	202117760	202117760	200384383	200384383	Nonsense_Mutation	SNP	G	A	NM_080588.1	p.Q392*	superfamily_SSF52799	0	0	0	Novel: Gene PTPN7 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	9	11	55	11	7	38.89	71	72	50.35
IL20	1	0	0	1	207039278	207039278	205105901	205105901	Frame_Shift_Del	DEL	A	0	NM_018724.3	p.L28fs	"superfamily_4_helix_cytokine,HMMPfam_IL10"	0	0	0	Novel: Gene IL20 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	214	90	29.13	351	154	30.37	0	0	0
CR1	4	0	0.005	1	207787753	207787753	205854376	205854376	Nonsense_Mutation	SNP	C	T	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	207787753	207787753	205854376	205854376	Nonsense_Mutation	SNP	C	T	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	207790000	207790000	205856623	205856623	Nonsense_Mutation	SNP	G	T	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	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
CR1L	1	0	0	1	207850758	207850758	205917381	205917381	Frame_Shift_Del	DEL	T	0	NM_175710.1	p.P42fs	"HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain"	0	0	0	Novel: Gene CR1L in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	150	61	28.5	223	73	24.17	0	0	0
LAMB3	4	0	0	1	209799066	209799066	207865689	207865689	Nonsense_Mutation	SNP	G	A	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	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	209799066	209799066	207865689	207865689	Nonsense_Mutation	SNP	G	A	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	209806480	209806480	207873103	207873103	Splice_Site	SNP	T	C	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
TRAF3IP3	1	0	0	1	209948994	209948994	208015617	208015617	Nonsense_Mutation	SNP	T	G	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
RPS6KC1	1	0	0	1	213251113	213251113	211317736	211317736	Nonsense_Mutation	SNP	C	T	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
USH2A	1	0	0	1	216074096	216074096	214140719	214140719	Splice_Site	SNP	C	T	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
LYPLAL1	1	0	0	1	219352488	219352488	217419111	217419111	Splice_Site	SNP	G	T	NM_138794.3	e2-1	0	0	0	0	Novel: Gene LYPLAL1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	68	39	36.45	62	50	44.64	0	2	100
DISP1	1	0	0	1	223178512	223178512	221245135	221245135	Frame_Shift_Del	DEL	A	0	NM_032890.2	p.Q1258fs	NULL	0	0	0	Novel: Gene DISP1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	67	26	27.08	54	22	28.21	1	0	0
DEGS1	1	0	0	1	224377945	224377946	222444568	222444569	Frame_Shift_Ins	INS	0	T	NM_003676.2	p.L251fs	HMMPfam_FA_desaturase	0	0	0	Novel: Gene DEGS1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	149	53	35.33	122	44	35.48	77	20	25.97
OBSCN	2	0	0.005	1	228553880	228553880	226620503	226620503	Nonsense_Mutation	SNP	G	A	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	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
ACTA1	1	0	0	1	229567934	229567934	227634557	227634557	Splice_Site	SNP	T	G	NM_001100.3	e4-2	0	0	0	0	Novel: Gene ACTA1 in Cosmic but No Amino Acid Results for Gene	"Novel, but near match: Amino Acid"	NA	NA	NA	NA	NA	NA	33	41	55.41	31	23	42.59	0	0	0
TARBP1	1	0	0	1	234541779	234541779	232608402	232608402	Nonsense_Mutation	SNP	G	A	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
EXO1	1	0	0	1	242042114	242042115	240108737	240108738	Frame_Shift_Del	DEL	TG	0	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
ZNF695	2	0	0	1	247171207	247171207	245237830	245237830	Splice_Site	SNP	C	G	NM_020394.3	e1+1	0	0	0	0	Novel: Gene ZNF695 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	36	20	35.71	50	34	40.48	0	0	0
ZNF695	2	0	0	1	247171207	247171207	245237830	245237830	Splice_Site	SNP	C	G	NM_020394.3	e1+1	0	0	0	0	Novel: Gene ZNF695 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	41	36	46.75	30	32	51.61	0	0	0
ACP1	1	0	0	2	276999	277002	266999	267002	Frame_Shift_Del	DEL	AATC	0	NM_004300.3	p.N105fs	"HMMPfam_LMWPc,HMMSmart_SM00226,superfamily_Phosphotyrosine protein phosphatases I"	0	0	0	Novel: Gene ACP1 in Cosmic but No Amino Acid Results for Gene	Position Match: Amino Acid	NA	NA	NA	NA	NA	NA	30	12	28.57	41	20	32.79	13	0	0
ALLC	3	0	0	2	3730635	3730635	3708510	3708510	Nonsense_Mutation	SNP	G	A	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	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	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
KIDINS220	1	0	0.005	2	8930024	8930025	8847475	8847476	Frame_Shift_Ins	INS	0	TG	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
RAD51AP2	1	0	0	2	17696868	17696869	17560349	17560350	Frame_Shift_Ins	INS	0	C	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
ITSN2	1	0	0	2	24443936	24443936	24297440	24297440	Splice_Site	SNP	C	T	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
HADHA	1	0	0	2	26459759	26459763	26313263	26313267	Frame_Shift_Del	DEL	GATGA	0	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
KRTCAP3	1	0	0	2	27665608	27665609	27519112	27519113	Frame_Shift_Del	DEL	TC	0	NM_173853.3	p.S65fs	NULL	0	0	0	Novel: Gene KRTCAP3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	46	15	24.59	58	25	30.12	1	0	0
CCDC121	3	0	0	2	27849929	27849930	27703433	27703434	Frame_Shift_Del	DEL	TC	0	NM_001142683.2	p.R408fs	NULL	0	0	0	Novel: Gene CCDC121 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0.01	0.002	0.01	231	111	32.46	150	56	27.05	2	0	0
CCDC121	3	0	0	2	27849929	27849930	27703433	27703434	Frame_Shift_Del	DEL	TC	0	NM_001142683.2	p.R408fs	NULL	0	0	0	Novel: Gene CCDC121 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0.01	0.002	0.01	78	33	29.2	60	28	31.82	2	0	0
CCDC121	3	0	0	2	27849929	27849930	27703433	27703434	Frame_Shift_Del	DEL	TC	0	NM_001142683.2	p.R408fs	NULL	0	0	0	Novel: Gene CCDC121 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0.01	0.002	0.01	37	17	31.48	28	14	33.33	3	0	0
FAM179A	2	0	0	2	29222136	29222145	29075640	29075649	Frame_Shift_Del	DEL	CTGGACACCC	0	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	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
GALNT14	1	0	0	2	31181262	31181262	31034766	31034766	Splice_Site	SNP	C	T	NM_024572.2	e4+1	0	0	0	0	Novel: Gene GALNT14 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	11	18	60	19	20	51.28	0	2	40
CEBPZ	1	0	0	2	37439513	37439514	37293017	37293018	Frame_Shift_Del	DEL	AC	0	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
THADA	1	0	0	2	43735874	43735874	43589378	43589378	Nonsense_Mutation	SNP	C	T	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
SLC3A1	1	0	0	2	44547360	44547360	44400864	44400864	Nonsense_Mutation	SNP	C	A	NM_000341.3	p.S547*	superfamily_Glyco_hydro_cat	0	0	0	Novel: Gene SLC3A1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	37	27	42.19	34	23	40.35	11	5	31.25
PAPOLG	1	0	0	2	61021851	61021851	60875355	60875355	Nonsense_Mutation	SNP	C	T	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
UGP2	1	0	0	2	64118315	64118315	63971819	63971819	Nonsense_Mutation	SNP	T	A	NM_006759.3	p.L494*	superfamily_Nucleotide-diphospho-sugar transferases	0	0	0	Novel: Gene UGP2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	97	91	48.4	313	230	42.05	71	64	47.41
BMP10	1	0	0.005	2	69093668	69093668	68947172	68947172	Nonsense_Mutation	SNP	G	A	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
DYSF	2	0	0.015	2	71766369	71766369	71619877	71619877	Nonsense_Mutation	SNP	G	T	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	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
ALMS1	1	0	0.005	2	73678793	73678794	73532301	73532302	Frame_Shift_Ins	INS	0	T	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
TPRKB	1	0	0	2	73957705	73957708	73811213	73811216	Frame_Shift_Del	DEL	ATTC	0	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
TTC31	1	0	0	2	74720217	74720217	74573725	74573725	Nonsense_Mutation	SNP	C	T	NM_022492.4	p.R478*	NULL	0	0	0	Novel: Gene TTC31 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.0149	0	0.01	NA	NA	NA	105	86	44.79	53	36	39.56	37	44	54.32
GNLY	2	0	0	2	85922515	85922515	85776026	85776026	Frame_Shift_Del	DEL	C	0	NM_006433.3	p.C43fs	NULL	0	0	0	Novel: Gene GNLY in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	57	27	32.14	57	25	29.41	14	2	12.5
GNLY	2	0	0	2	85922515	85922515	85776026	85776026	Frame_Shift_Del	DEL	C	0	NM_006433.3	p.C43fs	NULL	0	0	0	Novel: Gene GNLY in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	41	16	28.07	59	31	34.44	0	0	0
RGPD1	1	0	0	2	87201282	87201282	87054793	87054793	Nonsense_Mutation	SNP	C	T	NM_001024457.3	p.R454*	NULL	0	0	0	Novel: Gene RGPD1 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	10	6	35.29	6	2	25	1	0	0
FAHD2B	2	0	0	2	97749524	97749524	97113251	97113251	Nonsense_Mutation	SNP	C	A	NM_199336.1	p.E305*	"HMMPfam_FAA_hydrolase,superfamily_Fumarylacetoacetase_C-rel"	rs187104986	unknown	"MPI_MOLGEN,"	Novel: Gene FAHD2B in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.0285	0	0.0186	NA	NA	NA	181	38	17.27	267	42	13.59	11	0	0
FAHD2B	2	0	0	2	97749524	97749524	97113251	97113251	Nonsense_Mutation	SNP	C	A	NM_199336.1	p.E305*	"HMMPfam_FAA_hydrolase,superfamily_Fumarylacetoacetase_C-rel"	rs187104986	unknown	"MPI_MOLGEN,"	Novel: Gene FAHD2B in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.0285	0	0.0186	NA	NA	NA	68	14	17.07	89	17	16.04	15	1	6.25
ANKRD36B	1	0	0	2	98175277	98175277	97541709	97541709	Nonsense_Mutation	SNP	G	A	NM_025190.3	p.Q86*	NULL	0	0	0	Novel: Gene ANKRD36B not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	40	45	52.94	25	26	50	33	12	26.67
VWA3B	1	0	0.005	2	98810932	98810932	98177364	98177364	Nonsense_Mutation	SNP	C	T	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
IL18R1	2	0	0	2	102988458	102988459	102354890	102354891	Frame_Shift_Del	DEL	AC	0	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	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
RGPD3	5	0	0	2	107074109	107074109	106440541	106440541	Nonsense_Mutation	SNP	G	A	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	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	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	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	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
RGPD4	1	0	0	2	108488354	108488354	107854786	107854786	Frame_Shift_Del	DEL	T	0	NM_182588.2	p.A1299fs	NULL	0	0	0	Novel: Gene RGPD4 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	456	197	29.76	420	187	30.51	7	0	0
ZC3H6	1	0	0	2	113089485	113089488	112805956	112805959	Frame_Shift_Del	DEL	ACTT	0	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
IL1A	1	0	0	2	113537166	113537166	113253637	113253637	Nonsense_Mutation	SNP	C	A	NM_000575.3	p.E133*	"HMMSmart_SM00125,superfamily_Cytokine"	0	0	0	Novel: Gene IL1A in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	21	16	43.24	37	23	38.33	0	0	0
IL1F6	1	0	0	2	113763574	113763574	113480045	113480045	Nonsense_Mutation	SNP	C	T	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
RABL2A	1	0	0	2	114399398	114399398	114115868	114115868	Frame_Shift_Del	DEL	A	0	NM_007082.3	p.Q182fs	"HMMSmart_SM00176,superfamily_P-loop containing nucleoside triphosphate hydrolases"	0	0	0	Novel: Gene RABL2A in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	10	7	41.18	8	4	33.33	NA	NA	NA
DBI	1	0	0	2	120125198	120125198	119841668	119841668	Frame_Shift_Del	DEL	C	0	NM_020548.6	p.N14fs	NULL	0	0	0	Novel: Gene DBI in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	193	78	28.68	87	34	28.1	0	0	0
HS6ST1	1	0	0	2	129026419	129026419	128742889	128742889	Nonsense_Mutation	SNP	G	A	NM_004807.2	p.R185*	HMMPfam_HS6ST	0	0	0	Novel: Gene HS6ST1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	40	12	23.08	18	1	5.26	13	0	0
TUBA3E	1	0	0	2	130951911	130951912	130668381	130668382	Frame_Shift_Del	DEL	CT	0	NM_207312.2	p.E168fs	"HMMPfam_Tubulin,superfamily_Tubulin_FtsZ"	0	0	0	Novel: Gene TUBA3E in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	81	27	24.55	208	84	28.67	1	0	0
ZRANB3	1	0	0	2	135976662	135976663	135693132	135693133	Frame_Shift_Del	DEL	TT	0	NM_032143.2	p.K779fs	NULL	0	0	0	Novel: Gene ZRANB3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	26	12	31.58	30	16	34.04	3	0	0
KYNU	1	0	0	2	143676263	143676264	143392733	143392734	Frame_Shift_Ins	INS	0	T	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
ARHGAP15	1	0	0	2	143986196	143986196	143702666	143702666	Frame_Shift_Del	DEL	G	0	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
ORC4L	1	0	0	2	148695732	148695732	148412202	148412202	Nonsense_Mutation	SNP	T	A	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
RBM43	1	0	0	2	152109283	152109284	151817529	151817530	Frame_Shift_Del	DEL	GA	0	NM_198557.2	p.H101fs	NULL	0	0	0	Novel: Gene RBM43 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	712	256	26.15	673	257	27.4	9	0	0
NMI	1	0	0	2	152132079	152132079	151840325	151840325	Nonsense_Mutation	SNP	G	A	NM_004688.2	p.R185*	HMMPfam_NID	0	0	0	Novel: Gene NMI in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0	0.0268	0.0093	NA	NA	NA	128	145	52.92	77	96	55.49	43	1	2.27
PKP4	1	0	0	2	159477634	159477634	159185880	159185880	Splice_Site	SNP	G	T	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
WDSUB1	1	0	0	2	160114377	160114377	159822623	159822623	Splice_Site	SNP	T	C	NM_001128212.1	e7-2	0	0	0	0	Novel: Gene WDSUB1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	15	15	50	26	18	40	2	1	33.33
GRB14	1	0	0	2	165349605	165349606	165057851	165057852	Frame_Shift_Ins	INS	0	TTGA	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
XIRP2	1	0	0.005	2	168106939	168106940	167815185	167815186	Frame_Shift_Del	DEL	AC	0	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
ABCB11	1	0	0.005	2	169814473	169814473	169522719	169522719	Splice_Site	SNP	C	A	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
RAPGEF4	1	0	0	2	173787029	173787029	173495275	173495275	Splice_Site	SNP	G	A	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
GPR155	1	0	0	2	175326324	175326325	175034570	175034571	Frame_Shift_Ins	INS	0	GATATTAT	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
CHRNA1	1	0	0	2	175629111	175629111	175337357	175337357	Frame_Shift_Del	DEL	C	0	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
HOXD10	1	0	0	2	176983912	176983912	176692158	176692158	Nonsense_Mutation	SNP	C	T	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
PDE11A	2	0	0	2	178969133	178969133	178677379	178677379	Nonsense_Mutation	SNP	T	A	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	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
RBM45	1	0	0	2	178986065	178986065	178694311	178694311	Nonsense_Mutation	SNP	C	T	NM_152945.2	p.R278*	"HMMSmart_SM00360,superfamily_RNA-binding domain RBD"	0	0	0	Novel: Gene RBM45 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	46	41	47.13	39	48	55.17	3	3	50
FKBP7	1	0	0	2	179343147	179343150	179051393	179051396	Frame_Shift_Del	DEL	TTTT	0	NM_181342.2	p.Q26fs	NULL	0	0	0	Novel: Gene FKBP7 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	34	11	23.91	32	14	29.79	7	0	0
NUP35	1	0	0	2	184024378	184024378	183732623	183732623	Nonsense_Mutation	SNP	C	T	NM_138285.3	p.Q301*	NULL	0	0	0	Novel: Gene NUP35 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	28	25	47.17	35	34	49.28	NA	NA	NA
ZSWIM2	2	0	0	2	187709443	187709443	187417688	187417688	Splice_Site	SNP	C	T	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
ZSWIM2	2	0	0	2	187713710	187713710	187421955	187421955	Frame_Shift_Del	DEL	C	0	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
ASNSD1	1	0	0	2	190532607	190532607	190240852	190240852	Nonsense_Mutation	SNP	C	T	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
MYO1B	1	0	0	2	192194695	192194695	191902940	191902940	Nonsense_Mutation	SNP	C	T	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
DNAH7	1	0	0	2	196661362	196661362	196369607	196369607	Frame_Shift_Del	DEL	C	0	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
KCTD18	2	0	0	2	201354938	201354945	201063183	201063190	Frame_Shift_Del	DEL	GGCGCGGT	0	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	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
ALS2CR11	1	0	0.005	2	202466561	202466561	202174806	202174806	Frame_Shift_Del	DEL	G	0	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
NBEAL1	1	0	0.005	2	203881132	203881133	203589377	203589378	Frame_Shift_Ins	INS	0	A	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
PARD3B	1	0	0	2	206057983	206057984	205766228	205766229	Frame_Shift_Del	DEL	TG	0	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
NRP2	1	0	0	2	206617557	206617557	206325802	206325802	Splice_Site	SNP	A	T	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
ZDBF2	1	0	0	2	207169914	207169917	206878159	206878162	Frame_Shift_Del	DEL	CAAA	0	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
DYTN	1	0	0	2	207570515	207570515	207278760	207278760	Nonsense_Mutation	SNP	G	A	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
IDH1	1	X	0.095	2	209116206	209116206	208824451	208824451	Nonsense_Mutation	SNP	C	A	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
SPAG16	1	0	0	2	214228850	214228850	213937095	213937095	Nonsense_Mutation	SNP	C	A	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
ATIC	2	X	0	2	216177330	216177331	215885575	215885576	Frame_Shift_Ins	INS	0	G	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	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
PLCD4	1	0	0	2	219497037	219497037	219205281	219205281	Splice_Site	SNP	T	G	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
CYP27A1	1	0	0	2	219678911	219678911	219387155	219387155	Splice_Site	SNP	G	A	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
ABCB6	1	0	0	2	220083020	220083020	219791264	219791264	Frame_Shift_Del	DEL	C	0	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
ACCN4	1	0	0	2	220397659	220397666	220105903	220105910	Splice_Site	DEL	TGGGTCCG	0	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
OBSL1	1	0	0	2	220432785	220432786	220141029	220141030	Frame_Shift_Ins	INS	0	T	NM_015311.2	p.T425fs	"HMMSmart_IG,superfamily_SSF48726"	0	0	0	Novel: Gene OBSL1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	38	15	38.46	53	24	42.86	NA	NA	NA
MOGAT1	5	0	0	2	223559079	223559079	223267323	223267323	Splice_Site	SNP	A	G	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	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	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	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	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
SP100	1	0	0	2	231379854	231379854	231088098	231088098	Frame_Shift_Del	DEL	A	0	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
HTR2B	1	0	0	2	231973377	231973377	231681621	231681621	Nonsense_Mutation	SNP	G	A	NM_000867.4	p.R434*	NULL	0	0	0	Novel: Gene HTR2B 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	19	20	51.28	23	17	42.5	4	1	20
DNAJB3	1	0	0	2	234652526	234652526	234317265	234317265	Nonsense_Mutation	SNP	G	A	NM_001001394.3	p.Q13*	"HMMPfam_DnaJ,HMMSmart_DnaJ,superfamily_DnaJ_N"	0	0	0	Novel: Gene DNAJB3 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	33	43	56.58	12	8	38.1	0	0	0
IQCA1	1	0	0	2	237406113	237406113	237070852	237070852	Nonsense_Mutation	SNP	C	T	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
RBM44	1	0	0.005	2	238726562	238726562	238391301	238391301	Nonsense_Mutation	SNP	C	T	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
MTERFD2	1	0	0	2	242039002	242039003	241687675	241687676	Frame_Shift_Ins	INS	0	TA	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
PASK	1	0	0	2	242075456	242075456	241724129	241724129	Splice_Site	SNP	T	C	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
TTLL3	1	0	0	3	9854663	9854664	9829663	9829664	Frame_Shift_Del	DEL	GT	0	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
IL17RC	4	0	0	3	9962223	9962223	9937223	9937223	Nonsense_Mutation	SNP	C	T	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	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	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	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
CRELD1	1	0	0	3	9984777	9984777	9959777	9959777	Frame_Shift_Del	DEL	C	0	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
SEC13	1	0	0	3	10359779	10359779	10334779	10334779	Splice_Site	SNP	C	G	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
ATG7	1	0	0	3	11468296	11468296	11443296	11443296	Nonsense_Mutation	SNP	C	T	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
WNT7A	1	0	0	3	13916443	13916443	13891444	13891444	Splice_Site	SNP	C	G	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
SH3BP5	1	0	0	3	15303746	15303747	15278750	15278751	Frame_Shift_Ins	INS	0	T	NM_004844.3	p.T183fs	HMMPfam_SH3BP5	0	0	0	Novel: Gene SH3BP5 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	114	47	40.87	140	60	42.25	3	0	0
OXNAD1	1	0	0	3	16327885	16327885	16302889	16302889	Nonsense_Mutation	SNP	G	T	NM_138381.2	p.E74*	superfamily_Riboflavin_synthase_like_b-brl	0	0	0	Novel: Gene OXNAD1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	150	140	48.28	235	332	58.25	2	5	71.43
EFHB	1	0	0	3	19956796	19956796	19931800	19931800	Frame_Shift_Del	DEL	T	0	NM_144715.3	p.G430fs	NULL	0	0	0	Novel: Gene EFHB in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	23	9	28.12	47	24	33.8	0	0	0
NGLY1	1	0	0	3	25775422	25775422	25750426	25750426	Nonsense_Mutation	SNP	T	A	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
ARPP21	1	0	0	3	35781067	35781068	35756071	35756072	Frame_Shift_Ins	INS	0	AGGT	NM_016300.4	p.M636fs	NULL	0	0	0	Novel: Gene ARPP21 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	31	4	12.9	26	8	28.57	NA	NA	NA
TRANK1	1	0	0	3	36873636	36873636	36848640	36848640	Nonsense_Mutation	SNP	T	A	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
DLEC1	2	0	0	3	38153226	38153226	38128230	38128230	Nonsense_Mutation	SNP	C	T	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	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
TTC21A	1	0	0	3	39167024	39167024	39142028	39142028	Splice_Site	SNP	G	A	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
ULK4	3	0	0	3	41756779	41756779	41731783	41731783	Nonsense_Mutation	SNP	G	A	NM_017886.2	p.R862*	NULL	0	0	0	Novel: Gene ULK4 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.3809	0	0.2632	0.0013	0	0.0005	34	36	51.43	113	130	53.28	0	1	100
ULK4	3	0	0	3	41795861	41795871	41770865	41770875	Frame_Shift_Del	DEL	GCAACTGAGCA	0	NM_017886.2	p.L768fs	NULL	0	0	0	Novel: Gene ULK4 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	456	114	19.93	329	85	20.53	NA	NA	NA
ULK4	3	0	0	3	41939975	41939975	41914979	41914979	Nonsense_Mutation	SNP	G	A	NM_017886.2	p.Q433*	superfamily_ARM-type_fold	0	0	0	Novel: Gene ULK4 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0	0.0272	0.0094	NA	NA	NA	52	27	34.18	75	45	37.5	11	9	42.86
ZNF662	1	0	0	3	42956526	42956526	42931530	42931530	Nonsense_Mutation	SNP	C	T	NM_001134656.1	p.R347*	"HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers"	0	0	0	Novel: Gene ZNF662 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	88	71	44.38	65	42	39.25	8	10	55.56
ZNF660	2	0	0	3	44636279	44636280	44611283	44611284	Frame_Shift_Del	DEL	AT	0	NM_173658.1	p.C199fs	"HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667"	0	0	0	Novel: Gene ZNF660 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	201	106	33.44	55	14	20	14	0	0
ZNF660	2	0	0	3	44636279	44636280	44611283	44611284	Frame_Shift_Del	DEL	AT	0	NM_173658.1	p.C199fs	"HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667"	0	0	0	Novel: Gene ZNF660 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	139	69	32.7	132	51	27.27	7	6	46.15
CCR5	3	0	0	3	46414944	46414975	46389948	46389979	Frame_Shift_Del	DEL	ACAGTCAGTATCAATTCTGGAAGAATTTCCAG	0	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
CCR5	3	0	0	3	46414944	46414975	46389948	46389979	Frame_Shift_Del	DEL	ACAGTCAGTATCAATTCTGGAAGAATTTCCAG	0	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	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
LTF	1	0	0	3	46497470	46497470	46472474	46472474	Splice_Site	SNP	T	C	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
ZNF589	1	0	0	3	48309944	48309944	48284948	48284948	Nonsense_Mutation	SNP	C	T	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
TREX1	1	0	0	3	48508346	48508347	48483350	48483351	Frame_Shift_Ins	INS	0	A	NM_016381.3	p.C154fs	"HMMSmart_SM00479,superfamily_Ribonuclease H-like,HMMPfam_Exonuc_X-T"	0	0	0	Novel: Gene TREX1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	65	19	29.23	57	26	44.07	36	25	62.5
USP4	2	0	0	3	49348052	49348052	49323056	49323056	Splice_Site	SNP	C	T	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	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
AMT	1	0	0	3	49456779	49456780	49431783	49431784	Frame_Shift_Ins	INS	0	G	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
APEH	1	0	0	3	49712654	49712654	49687658	49687658	Nonsense_Mutation	SNP	C	T	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
TEX264	1	0	0	3	51733592	51733592	51708632	51708632	Splice_Site	SNP	T	C	NM_001129884.1	e3+2	0	0	0	0	Novel: Gene TEX264 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	53	45	45.45	62	48	43.64	0	25	96.15
DNAH1	1	0	0	3	52409343	52409344	52384383	52384384	Frame_Shift_Ins	INS	0	G	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
GNL3	1	0	0	3	52720844	52720844	52695884	52695884	Splice_Site	SNP	G	A	NM_014366.4	e2+1	0	0	0	0	Novel: Gene GNL3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	23	20	46.51	15	15	50	NA	NA	NA
ITIH3	1	0	0	3	52840974	52840974	52816014	52816014	Frame_Shift_Del	DEL	C	0	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
LRTM1	1	0	0	3	54952628	54952628	54927668	54927668	Frame_Shift_Del	DEL	A	0	NM_020678.2	p.V299fs	NULL	0	0	0	Novel: Gene LRTM1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	114	57	32.95	144	64	30.77	0	0	0
FLNB	1	0	0	3	58109408	58109408	58084448	58084448	Nonsense_Mutation	SNP	G	T	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
FOXP1	1	X	0.005	3	71026101	71026101	71108791	71108791	Frame_Shift_Del	DEL	G	0	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
CHMP2B	1	0	0	3	87302886	87302886	87385576	87385576	Nonsense_Mutation	SNP	C	T	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
GPR128	1	0	0.005	3	100354623	100354623	101837313	101837313	Nonsense_Mutation	SNP	C	T	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
RG9MTD1	1	0	0	3	101283848	101283848	102766538	102766538	Nonsense_Mutation	SNP	C	T	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
BBX	1	0	0	3	107429391	107429391	108912081	108912081	Nonsense_Mutation	SNP	G	A	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
MYH15	1	0	0.005	3	108117483	108117483	109600173	109600173	Splice_Site	SNP	C	G	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
PHLDB2	1	0	0	3	111603684	111603684	113086374	113086374	Nonsense_Mutation	SNP	C	T	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
TMPRSS7	3	0	0	3	111766585	111766585	113249275	113249275	Splice_Site	SNP	G	A	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	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	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
GAP43	1	0	0	3	115382716	115382716	116865406	116865406	Nonsense_Mutation	SNP	C	T	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
UPK1B	1	0	0	3	118906670	118906670	120389360	120389360	Nonsense_Mutation	SNP	C	T	NM_006952.3	p.Q40*	HMMPfam_Tetraspannin	0	0	0	Novel: Gene UPK1B 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	327	221	40.33	584	387	39.73	0	0	0
POLQ	2	0	0	3	121207510	121207516	122690200	122690206	Frame_Shift_Del	DEL	AATAGTA	0	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	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
ARGFX	1	0	0	3	121295729	121295729	122778419	122778419	Nonsense_Mutation	SNP	C	T	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
FAM162A	1	0	0	3	122123211	122123211	123605901	123605901	Splice_Site	SNP	G	A	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
PARP15	2	0	0	3	122334624	122334624	123817314	123817314	Splice_Site	SNP	A	G	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	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
SLC12A8	1	0	0	3	124854600	124854600	126337290	126337290	Nonsense_Mutation	SNP	C	A	NM_024628.5	p.E217*	HMMPfam_AA_permease	0	0	0	Novel: Gene SLC12A8 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.0597	0.1551	0.0907	0	0	NA	63	62	49.6	89	49	35.25	0	0	0
CCDC37	1	0	0	3	126114892	126114895	127597582	127597585	Frame_Shift_Del	DEL	AGTA	0	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
TXNRD3IT1	1	0	0	3	126291137	126291137	127773827	127773827	Frame_Shift_Del	DEL	G	0	NM_001039783.1	p.Q84fs	NULL	0	0	0	Novel: Gene TXNRD3IT1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	27	15	34.09	38	11	21.57	0	0	0
COL6A6	3	0	0	3	130300740	130300740	131783430	131783430	Nonsense_Mutation	SNP	C	T	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	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	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
NEK11	1	0	0	3	130748723	130748723	132231413	132231413	Splice_Site	SNP	G	C	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
CCRL1	1	0	0	3	132319608	132319609	133802298	133802299	Frame_Shift_Del	DEL	TT	0	NM_016557.2	p.F123fs	"HMMPfam_7tm_1,superfamily_SSF81321"	0	0	0	Novel: Gene CCRL1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	520	282	35.12	673	220	24.44	1	0	0
ACAD11	1	0	0	3	132322121	132322121	133804811	133804811	Nonsense_Mutation	SNP	G	A	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
CEP70	1	0	0	3	138248276	138248279	139730966	139730969	Frame_Shift_Del	DEL	CTGA	0	NM_024491.2	p.S240fs	NULL	0	0	0	Novel: Gene CEP70 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	191	60	23.9	169	44	20.66	NA	NA	NA
GPR87	1	0	0	3	151017854	151017854	152500544	152500544	Splice_Site	SNP	C	T	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
IGSF10	2	0	0	3	151154995	151154996	152637685	152637686	Frame_Shift_Ins	INS	0	TGAT	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
IGSF10	2	0	0	3	151154995	151154996	152637685	152637686	Frame_Shift_Ins	INS	0	TGAT	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
SUCNR1	1	0	0	3	151598943	151598947	153081633	153081637	Frame_Shift_Del	DEL	TTTCT	0	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
GFM1	1	0	0	3	158376794	158376797	159859488	159859491	Frame_Shift_Del	DEL	AAGA	0	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
IFT80	1	0	0	3	159986224	159986224	161468918	161468918	Nonsense_Mutation	SNP	G	A	NM_020800.1	p.R734*	NULL	0	0	0	Novel: Gene IFT80 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	0.0142	0	0.0093	NA	NA	NA	21	23	52.27	19	7	26.92	NA	NA	NA
TRIM59	1	0	0	3	160155862	160155865	161638556	161638559	Frame_Shift_Del	DEL	AGAT	0	NM_173084.2	p.S370fs	NULL	0	0	0	Novel: Gene TRIM59 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	109	42	27.81	42	15	25.86	NA	NA	NA
ZBBX	1	0	0	3	167083673	167083673	168566367	168566367	Splice_Site	SNP	C	G	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
GOLIM4	1	0	0	3	167762615	167762615	169245309	169245309	Splice_Site	DEL	C	0	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
NAALADL2	1	0	0.005	3	174814870	174814870	176297564	176297564	Nonsense_Mutation	SNP	C	T	NM_207015.2	p.R112*	NULL	0	0	0	Novel: Gene NAALADL2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.0756	0.0327	0.062	NA	NA	NA	114	78	40.62	107	80	42.55	1	1	50
CCDC39	1	0	0	3	180378423	180378423	181861117	181861117	Frame_Shift_Del	DEL	C	0	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
MAP6D1	1	0	0	3	183535838	183535838	185018532	185018532	Nonsense_Mutation	SNP	G	A	NM_024871.2	p.R155*	NULL	0	0	0	Novel: Gene MAP6D1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	109	76	40.86	113	134	53.82	2	3	60
TPRG1	1	0	0.005	3	188925356	188925365	190408050	190408059	Frame_Shift_Del	DEL	TATCTCACGG	0	NM_198485.3	p.Y61fs	NULL	0	0	0	Novel: Gene TPRG1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	89	32	26.45	138	58	29.59	NA	NA	NA
TNK2	1	0	0	3	195605465	195605465	197089862	197089862	Splice_Site	SNP	T	C	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
LMLN	1	0	0	3	197762899	197762899	199247296	199247296	Nonsense_Mutation	SNP	C	T	NM_001136049.2	p.R655*	NULL	0	0	0	Novel: Gene LMLN in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	16	7	30.43	13	15	53.57	1	3	75
ZNF732	1	0	0	4	265308	265308	255308	255308	Nonsense_Mutation	SNP	G	C	NM_001137608.1	p.Y446*	"HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667"	rs182419378	by-1000genomes	"1000GENOMES,"	Novel: Gene ZNF732 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0	0	0.0005	47	33	41.25	49	37	42.53	0	0	0
CRIPAK	4	0	0.005	4	1388563	1388564	1378563	1378564	Frame_Shift_Del	DEL	AT	0	NM_175918.3	p.A90fs	NULL	0	0	0	Novel: Gene CRIPAK in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0.0026	0.04	0.01	121	44	26.67	91	34	27.2	NA	NA	NA
CRIPAK	4	0	0.005	4	1388570	1388574	1378570	1378574	Frame_Shift_Del	DEL	GATGT	0	NM_175918.3	p.D91fs	NULL	0	0	0	Novel: Gene CRIPAK in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	89	12	11.88	101	10	9.01	NA	NA	NA
CRIPAK	4	0	0.005	4	1388570	1388574	1378570	1378574	Frame_Shift_Del	DEL	GATGT	0	NM_175918.3	p.D91fs	NULL	0	0	0	Novel: Gene CRIPAK in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	40	10	20	111	25	18.25	NA	NA	NA
CRIPAK	4	0	0.005	4	1389062	1389062	1379062	1379062	Nonsense_Mutation	SNP	C	T	NM_175918.3	p.R255*	HMMSmart_PostSET	0	0	0	Novel: Gene CRIPAK in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	15	29	65.91	16	80	82.47	1	1	50
HAUS3	1	0	0	4	2240511	2240511	2210309	2210309	Nonsense_Mutation	SNP	G	C	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
CPZ	1	0	0	4	8620222	8620225	8671122	8671125	Frame_Shift_Del	DEL	TCAG	0	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
FAM184B	1	0	0	4	17711269	17711269	17320367	17320367	Splice_Site	SNP	T	C	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
KLB	1	0	0	4	39448263	39448264	39124658	39124659	Frame_Shift_Ins	INS	0	CG	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
FRYL	2	0	0.01	4	48523178	48523178	48217935	48217935	Frame_Shift_Del	DEL	G	0	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	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
UGT2B7	3	0	0	4	69962346	69962346	69996935	69996935	Nonsense_Mutation	SNP	G	A	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	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	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
UGT2B28	1	0	0	4	70152488	70152488	70187077	70187077	Nonsense_Mutation	SNP	C	T	NM_053039.1	p.Q297*	"HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase"	0	0	0	Novel: Gene UGT2B28 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.0144	0	0.0096	0.01	0.002	0.0023	2	256	99.22	0	250	100	0	0	0
UGT2B4	1	0	0	4	70346480	70346480	70381069	70381069	Nonsense_Mutation	SNP	G	A	NM_021139.2	p.Q487*	HMMPfam_UDPGT	0	0	0	Novel: Gene UGT2B4 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.0285	0	0.0186	NA	NA	NA	154	93	37.5	120	72	37.5	0	0	0
STATH	1	0	0	4	70866636	70866636	70901225	70901225	Nonsense_Mutation	SNP	C	A	NM_003154.2	p.Y53*	HMMPfam_Statherin	rs139830497	by-1000genomes	"1000GENOMES,"	Novel: Gene STATH in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0	0	0.0046	107	84	43.98	115	85	42.5	0	0	0
HTN3	1	0	0	4	70898902	70898902	70933491	70933491	Nonsense_Mutation	SNP	C	T	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
CSN3	1	0	0	4	71110577	71110578	71145166	71145167	Frame_Shift_Ins	INS	0	CCTG	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
SMR3B	1	0	0	4	71255478	71255479	71290067	71290068	Frame_Shift_Ins	INS	0	C	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
COX18	1	0	0	4	73930494	73930494	74149358	74149358	Splice_Site	SNP	C	A	NM_173827.2	e4+1	0	0	0	0	Novel: Gene COX18 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	11	12	52.17	32	28	46.67	0	0	0
CXCL6	4	0	0	4	74702809	74702810	74921673	74921674	Frame_Shift_Ins	INS	0	T	NM_002993.3	p.V81fs	"HMMPfam_IL8,HMMSmart_SCY,superfamily_Chemokine_IL8,PatternScan_SMALL_CYTOKINES_CXC"	0	0	0	Novel: Gene CXCL6 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	110	47	41.23	173	67	38.29	0	0	0
CXCL6	4	0	0	4	74702809	74702810	74921673	74921674	Frame_Shift_Ins	INS	0	T	NM_002993.3	p.V81fs	"HMMPfam_IL8,HMMSmart_SCY,superfamily_Chemokine_IL8,PatternScan_SMALL_CYTOKINES_CXC"	0	0	0	Novel: Gene CXCL6 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	34	16	45.71	43	18	40	0	0	0
CXCL6	4	0	0	4	74702809	74702810	74921673	74921674	Frame_Shift_Ins	INS	0	T	NM_002993.3	p.V81fs	"HMMPfam_IL8,HMMSmart_SCY,superfamily_Chemokine_IL8,PatternScan_SMALL_CYTOKINES_CXC"	0	0	0	Novel: Gene CXCL6 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	122	60	47.62	122	50	40.32	0	0	0
CXCL6	4	0	0	4	74702809	74702810	74921673	74921674	Frame_Shift_Ins	INS	0	T	NM_002993.3	p.V81fs	"HMMPfam_IL8,HMMSmart_SCY,superfamily_Chemokine_IL8,PatternScan_SMALL_CYTOKINES_CXC"	0	0	0	Novel: Gene CXCL6 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	75	39	48.75	42	35	81.4	0	0	0
PF4V1	1	0	0	4	74719751	74719751	74938615	74938615	Splice_Site	SNP	G	A	NM_002620.2	e3-1	0	0	0	0	Novel: Gene PF4V1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	63	47	42.73	61	51	45.13	0	0	0
STBD1	1	0	0	4	77230903	77230903	77449927	77449927	Frame_Shift_Del	DEL	C	0	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
MRPS18C	1	0	0	4	84382144	84382145	84601168	84601169	Frame_Shift_Del	DEL	AG	0	NM_016067.2	p.K105fs	"HMMPfam_Ribosomal_S18,superfamily_Ribosomal_S18"	0	0	0	Novel: Gene MRPS18C in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	49	18	26.87	48	19	28.36	20	13	39.39
FAM175A	1	0	0	4	84383747	84383747	84602771	84602771	Nonsense_Mutation	SNP	G	A	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
AGPAT9	1	0	0	4	84502972	84502973	84721996	84721997	Frame_Shift_Ins	INS	0	G	NM_032717.3	p.L156fs	NULL	0	0	0	Novel: Gene AGPAT9 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	551	270	47.96	367	163	42.89	3	0	0
NUDT9	1	0	0	4	88344060	88344060	88563084	88563084	Frame_Shift_Del	DEL	G	0	NM_024047.3	p.A2fs	NULL	0	0	0	Novel: Gene NUDT9 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	215	85	28.15	238	91	27.49	2	0	0
MEPE	2	0	0.005	4	88766219	88766222	88985243	88985246	Frame_Shift_Del	DEL	GAAA	0	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	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
ABCG2	1	0	0	4	89016686	89016686	89235710	89235710	Nonsense_Mutation	SNP	G	A	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
ADH1A	3	0	0	4	100205872	100205872	100424895	100424895	Splice_Site	SNP	C	G	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	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	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
TET2	1	X	0.16	4	106157821	106157821	106377270	106377270	Frame_Shift_Del	DEL	G	0	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
ARHGEF38	1	0	0	4	106510593	106510593	106730042	106730042	Splice_Site	SNP	G	A	NM_017700.1	e2+1	0	0	0	0	Novel: Gene ARHGEF38 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	13	23	63.89	21	17	44.74	0	0	0
GSTCD	1	0	0.005	4	106639005	106639005	106858454	106858454	Nonsense_Mutation	SNP	C	T	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
TBCK	1	0	0	4	107168421	107168424	107387870	107387873	Frame_Shift_Del	DEL	TTCA	0	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
EGF	1	0	0	4	110901126	110901126	111120575	111120575	Splice_Site	SNP	A	G	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
PRSS12	1	0	0	4	119204190	119204190	119423638	119423638	Nonsense_Mutation	SNP	C	A	NM_003619.2	p.E706*	"HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases"	0	0	0	Novel: Gene PRSS12 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	207	59	22.18	544	248	31.27	0	0	0
MAD2L1	1	0	0	4	120986914	120986915	121206362	121206363	Frame_Shift_Del	DEL	GA	0	NM_002358.3	p.R45fs	"HMMPfam_HORMA,superfamily_The spindle assembly checkpoint protein mad2"	0	0	0	Novel: Gene MAD2L1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	68	23	25.27	102	44	30.14	NA	NA	NA
TNIP3	1	0	0	4	122075705	122075705	122295155	122295155	Splice_Site	SNP	C	T	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
FAT4	1	0	0.005	4	126239022	126239022	126458472	126458472	Nonsense_Mutation	SNP	G	T	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
MGST2	1	0	0	4	140625168	140625168	140844618	140844618	Splice_Site	SNP	A	G	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
MAML3	1	0	0	4	140651823	140651823	140871273	140871273	Splice_Site	SNP	T	C	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
TTC29	1	0	0	4	147861004	147861005	148080454	148080455	Frame_Shift_Ins	INS	0	T	NM_031956.2	p.T15fs	NULL	0	0	0	Novel: Gene TTC29 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	20	11	52.38	27	16	59.26	NA	NA	NA
PRSS48	1	0	0	4	152201111	152201111	152420561	152420561	Splice_Site	SNP	G	A	NM_183375.2	e2+1	0	0	0	0	Novel: Gene PRSS48 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	156	151	49.19	145	124	45.76	0	0	0
MAP9	1	0	0	4	156274375	156274375	156493825	156493825	Nonsense_Mutation	SNP	T	A	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
CTSO	1	0	0	4	156849582	156849582	157069032	157069032	Splice_Site	SNP	T	A	NM_001334.2	e7-2	0	0	0	0	Novel: Gene CTSO in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	15	20	57.14	12	13	52	NA	NA	NA
TMEM144	2	0	0	4	159136408	159136408	159355858	159355858	Frame_Shift_Del	DEL	T	0	NM_018342.4	p.L59fs	HMMPfam_DUF1632	0	0	0	Novel: Gene TMEM144 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	214	94	30.52	197	91	31.49	0	0	0
TMEM144	2	0	0	4	159136408	159136408	159355858	159355858	Frame_Shift_Del	DEL	T	0	NM_018342.4	p.L59fs	HMMPfam_DUF1632	0	0	0	Novel: Gene TMEM144 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	276	150	34.88	232	111	31.9	0	0	0
TKTL2	1	0	0	4	164394698	164394701	164614148	164614151	Frame_Shift_Del	DEL	GTCT	0	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
SH3RF1	1	0	0	4	170051308	170051308	170287883	170287883	Splice_Site	SNP	C	A	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
MFAP3L	1	0	0	4	170913401	170913401	171149976	171149976	Nonsense_Mutation	SNP	G	A	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
MORF4	4	0	0	4	174537180	174537181	174773755	174773756	Frame_Shift_Ins	INS	0	T	NM_006792.2	p.D205fs	HMMPfam_MRG	0	0	0	Novel: Gene MORF4 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0	0.03	0.01	122	47	37.6	283	110	36.91	36	0	0
MORF4	4	0	0	4	174537180	174537181	174773755	174773756	Frame_Shift_Ins	INS	0	T	NM_006792.2	p.D205fs	HMMPfam_MRG	0	0	0	Novel: Gene MORF4 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0	0.03	0.01	41	25	58.14	246	96	37.94	NA	NA	NA
MORF4	4	0	0	4	174537180	174537181	174773755	174773756	Frame_Shift_Ins	INS	0	T	NM_006792.2	p.D205fs	HMMPfam_MRG	0	0	0	Novel: Gene MORF4 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0	0.03	0.01	186	69	35.94	269	111	39.36	NA	NA	NA
MORF4	4	0	0	4	174537180	174537181	174773755	174773756	Frame_Shift_Ins	INS	0	T	NM_006792.2	p.D205fs	HMMPfam_MRG	0	0	0	Novel: Gene MORF4 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0	0.03	0.01	29	28	90.32	21	19	82.61	NA	NA	NA
NEIL3	1	0	0	4	178262691	178262692	178499685	178499686	Frame_Shift_Del	DEL	GT	0	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
TRIML1	1	0	0	4	189068289	189068289	189305283	189305283	Nonsense_Mutation	SNP	G	A	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
LRRC14B	1	0	0	5	194842	194842	247842	247842	Nonsense_Mutation	SNP	C	T	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
ADAMTS16	1	0	0.005	5	5306757	5306757	5359757	5359757	Nonsense_Mutation	SNP	C	A	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
DNAH5	2	0	0.01	5	13701398	13701398	13754398	13754398	Nonsense_Mutation	SNP	G	A	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	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
RNASEN	1	0	0.005	5	31451686	31451686	31487443	31487443	Frame_Shift_Del	DEL	A	0	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
SLC45A2	1	0	0.005	5	33947313	33947314	33983070	33983071	Frame_Shift_Del	DEL	CA	0	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
C1QTNF3	2	0	0	5	34042955	34042955	34078712	34078712	Frame_Shift_Del	DEL	T	0	NM_181435.4	p.A93fs	NULL	0	0	0	Novel: Gene C1QTNF3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	247	119	31.65	315	126	27.94	6	0	0
C1QTNF3	2	0	0	5	34042955	34042955	34078712	34078712	Frame_Shift_Del	DEL	T	0	NM_181435.4	p.A93fs	NULL	0	0	0	Novel: Gene C1QTNF3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	300	119	28.07	329	141	29.31	3	0	0
TTC23L	1	0	0	5	34863111	34863111	34898868	34898868	Frame_Shift_Del	DEL	T	0	NM_144725.3	p.L163fs	NULL	0	0	0	Novel: Gene TTC23L in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	148	65	29.82	187	85	31.02	0	0	0
RAD1	2	0	0	5	34908996	34909000	34944753	34944757	Frame_Shift_Del	DEL	TACCT	0	NM_002853.3	p.K240fs	"HMMPfam_Rad1,superfamily_DNA clamp"	0	0	0	Novel: Gene RAD1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	22	8	26.67	37	14	27.45	NA	NA	NA
RAD1	2	0	0	5	34908996	34909000	34944753	34944757	Frame_Shift_Del	DEL	TACCT	0	NM_002853.3	p.K240fs	"HMMPfam_Rad1,superfamily_DNA clamp"	0	0	0	Novel: Gene RAD1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	152	68	30.91	596	249	29.47	NA	NA	NA
DNAJC21	1	0	0	5	34941289	34941289	34977046	34977046	Splice_Site	SNP	G	A	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
AGXT2	1	0	0.005	5	35010248	35010248	35046005	35046005	Nonsense_Mutation	SNP	T	A	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
CAPSL	1	0	0	5	35910572	35910572	35946329	35946329	Frame_Shift_Del	DEL	A	0	NM_001042625.1	p.Y71fs	"HMMSmart_SM00054,superfamily_EF-hand"	0	0	0	Novel: Gene CAPSL in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	168	70	29.17	52	28	34.57	0	0	0
C7	1	0	0.005	5	40980013	40980013	41015770	41015770	Splice_Site	SNP	T	C	NM_000587.2	e17+2	0	0	0	0	Novel: Gene C7 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	0.0301	0	0.0205	NA	NA	NA	35	23	39.66	39	36	47.37	0	0	0
HEATR7B2	2	0	0.005	5	41008878	41008878	41044635	41044635	Nonsense_Mutation	SNP	A	T	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	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
SLC38A9	1	0	0	5	54965384	54965384	55001141	55001141	Splice_Site	SNP	C	T	NM_173514.2	e4+1	0	0	0	0	Novel: Gene SLC38A9 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	19	19	50	8	10	55.56	2	0	0
ACTBL2	1	0	0.005	5	56777757	56777758	56813514	56813515	Frame_Shift_Ins	INS	0	A	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
ELOVL7	1	0	0	5	60063694	60063694	60099451	60099451	Nonsense_Mutation	SNP	G	A	NM_001104558.1	p.R98*	HMMPfam_ELO	0	0	0	Novel: Gene ELOVL7 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.057	0	0.0372	0.0026	0	0.0009	17	12	40	15	12	44.44	0	0	0
PPWD1	1	0	0.005	5	64881922	64881922	64917678	64917678	Nonsense_Mutation	SNP	C	T	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
MAST4	1	0	0	5	66462423	66462424	66498179	66498180	Frame_Shift_Ins	INS	0	A	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
MARVELD2	1	0	0	5	68715471	68715471	68751227	68751227	Nonsense_Mutation	SNP	A	T	NM_001038603.2	p.K87*	NULL	0	0	0	Novel: Gene MARVELD2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	55	33	37.5	60	27	31.03	1	0	0
GTF2H2	1	0	0	5	70338044	70338044	70373800	70373800	Nonsense_Mutation	SNP	T	A	NM_001515.3	p.K297*	NULL	0	0	0	Novel: Gene GTF2H2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	190	80	29.63	197	90	31.25	14	1	6.67
MCCC2	1	0	0	5	70895589	70895589	70931345	70931345	Splice_Site	DEL	T	0	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
MRPS27	1	0	0	5	71524109	71524109	71559865	71559865	Nonsense_Mutation	SNP	A	T	NM_015084.2	p.Y226*	HMMPfam_MRP-S27	0	0	0	Novel: Gene MRPS27 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	19	22	53.66	21	19	47.5	9	4	30.77
HEXB	1	0	0	5	74011454	74011457	74047210	74047213	Frame_Shift_Del	DEL	AGTG	0	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
POC5	2	0	0	5	74988278	74988279	75024034	75024035	Frame_Shift_Del	DEL	TA	0	NM_001099271.1	p.I246fs	NULL	0	0	0	Novel: Gene POC5 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	27	12	30.77	30	14	31.82	2	0	0
POC5	2	0	0	5	75001580	75001580	75037336	75037336	Nonsense_Mutation	SNP	C	A	NM_001099271.1	p.E86*	NULL	0	0	0	Novel: Gene POC5 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	3	5	62.5	4	5	55.56	17	7	29.17
S100Z	2	0	0	5	76171302	76171302	76207058	76207058	Nonsense_Mutation	SNP	C	T	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	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
DMGDH	2	0	0	5	78340265	78340265	78376021	78376021	Nonsense_Mutation	SNP	G	A	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	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
CMYA5	1	0	0.01	5	79041099	79041099	79076855	79076855	Nonsense_Mutation	SNP	A	T	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
THBS4	1	0	0	5	79351721	79351721	79387477	79387477	Nonsense_Mutation	SNP	C	T	NM_003248.4	p.R136*	HMMSmart_TSPN	0	0	0	Novel: Gene THBS4 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	57	64	52.89	47	47	49.47	0	0	0
CKMT2	1	0	0	5	80554960	80554960	80590716	80590716	Nonsense_Mutation	SNP	C	T	NM_001099735.1	p.R301*	"HMMPfam_ATP-gua_Ptrans,superfamily_SSF55931"	0	0	0	Novel: Gene CKMT2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0	0.0268	0.0093	NA	NA	NA	78	69	46.94	141	109	43.6	5	3	37.5
FAM172A	1	0	0	5	93159853	93159853	93185609	93185609	Splice_Site	SNP	C	A	NM_032042.5	e7+1	0	0	0	0	Novel: Gene FAM172A in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	166	160	49.08	196	187	48.83	0	2	66.67
GLRX	1	0	0	5	95152249	95152250	95178005	95178006	Frame_Shift_Ins	INS	0	C	NM_001118890.1	p.T96fs	superfamily_Thioredoxin-like	0	0	0	Novel: Gene GLRX in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	256	126	47.19	264	135	50.19	6	3	50
ERAP1	1	0	0	5	96121571	96121574	96147327	96147330	Frame_Shift_Del	DEL	CAGT	0	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
ERAP2	1	0	0	5	96222447	96222447	96248203	96248203	Frame_Shift_Del	DEL	T	0	NM_001130140.1	p.C269fs	"HMMPfam_Peptidase_M1,superfamily_Leukotriene A4 hydrolase N-terminal domain"	0	0	0	Novel: Gene ERAP2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	213	105	32.81	214	111	33.94	4	0	0
PPIP5K2	1	0	0	5	102493998	102493998	102521897	102521897	Nonsense_Mutation	SNP	T	A	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
CDKL3	1	0	0	5	133686119	133686119	133714018	133714018	Splice_Site	SNP	C	T	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
TXNDC15	1	0	0	5	134229246	134229246	134257145	134257145	Nonsense_Mutation	SNP	G	A	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
BRD8	1	0	0	5	137481498	137481498	137509397	137509397	Nonsense_Mutation	SNP	C	T	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
SLC4A9	1	0	0	5	139751878	139751878	139732062	139732062	Frame_Shift_Del	DEL	C	0	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
HARS2	1	0	0	5	140075778	140075779	140055962	140055963	Frame_Shift_Ins	INS	0	TA	NM_012208.2	p.D243fs	superfamily_SSF55681	0	0	0	Novel: Gene HARS2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	31	17	50	29	13	43.33	NA	NA	NA
PCDHA8	1	0	0.005	5	140220943	140220943	140201127	140201127	Nonsense_Mutation	SNP	C	T	NM_018911.2	p.R13*	NULL	0	0	0	Novel: Gene PCDHA8 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0	0.0268	0.0093	NA	NA	NA	15	17	51.52	18	35	66.04	NA	NA	NA
PCDHA10	1	0	0	5	140237650	140237650	140217834	140217834	Nonsense_Mutation	SNP	C	T	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	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
PCDHA12	1	0	0	5	140255811	140255811	140235995	140235995	Frame_Shift_Del	DEL	T	0	NM_018903.2	p.S252fs	"HMMPfam_Cadherin,superfamily_Cadherin-like"	0	0	0	Novel: Gene PCDHA12 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	71	46	38.33	112	55	32.54	0	0	0
PCDHAC1	1	0	0	5	140306532	140306532	140286716	140286716	Frame_Shift_Del	DEL	G	0	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
PCDHB3	4	0	0.005	5	140481964	140481976	140462148	140462160	Frame_Shift_Del	DEL	CCGGGCGGCTGAG	0	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
PCDHB3	4	0	0.005	5	140481964	140481976	140462148	140462160	Frame_Shift_Del	DEL	CCGGGCGGCTGAG	0	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	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	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
PCDHB5	1	0	0	5	140515466	140515467	140495650	140495651	Frame_Shift_Del	DEL	TG	0	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
PCDHB11	2	0	0.005	5	140579736	140579737	140559920	140559921	Frame_Shift_Ins	INS	0	T	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	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
SLC25A2	2	0	0	5	140683301	140683302	140663485	140663486	Frame_Shift_Ins	INS	0	T	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
SLC25A2	2	0	0	5	140683301	140683302	140663485	140663486	Frame_Shift_Ins	INS	0	T	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
PCDHGA8	1	0	0	5	140772552	140772552	140752736	140752736	Frame_Shift_Del	DEL	A	0	NM_032088.1	p.K58fs	"HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like"	0	0	0	Novel: Gene PCDHGA8 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	87	24	21.62	57	14	19.72	0	0	0
PCDHGA12	1	0	0	5	140811395	140811395	140791579	140791579	Frame_Shift_Del	DEL	C	0	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
PRELID2	1	0	0	5	145214779	145214780	145194972	145194973	Frame_Shift_Ins	INS	0	T	NM_182960.2	p.Y13fs	NULL	0	0	0	Novel: Gene PRELID2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	13	4	30.77	23	12	48	1	0	0
SPINK5	1	0	0	5	147510920	147510920	147491113	147491113	Nonsense_Mutation	SNP	C	G	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
HMGXB3	1	0	0	5	149429978	149429978	149410171	149410171	Nonsense_Mutation	SNP	G	A	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
ANXA6	1	0	0	5	150512082	150512082	150492275	150492275	Nonsense_Mutation	SNP	G	A	NM_001155.3	p.R231*	"superfamily_Annexin,PatternScan_ANNEXIN,HMMPfam_Annexin,HMMSmart_ANX"	0	0	0	Novel: Gene ANXA6 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	100	94	48.45	58	25	30.12	NA	NA	NA
NIPAL4	1	0	0	5	156887253	156887254	156819831	156819832	Frame_Shift_Ins	INS	0	T	NM_001099287.1	p.S37fs	NULL	0	0	0	Novel: Gene NIPAL4 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	12	8	66.67	17	9	52.94	0	0	0
RNF145	1	0	0	5	158588601	158588601	158521179	158521179	Frame_Shift_Del	DEL	T	0	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
ATP10B	2	0	0.01	5	160113099	160113099	160045677	160045677	Nonsense_Mutation	SNP	G	A	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
ATP10B	2	0	0.01	5	160113099	160113099	160045677	160045677	Nonsense_Mutation	SNP	G	A	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
RANBP17	1	X	0	5	170343550	170343553	170276155	170276158	Frame_Shift_Del	DEL	TTAA	0	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
SH3PXD2B	1	0	0	5	171789874	171789874	171722479	171722479	Splice_Site	SNP	C	A	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
RGS14	1	0	0	5	176795871	176795871	176728477	176728477	Nonsense_Mutation	SNP	C	T	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
SLC34A1	1	0	0	5	176812852	176812852	176745458	176745458	Splice_Site	SNP	G	T	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
DOK3	1	0	0	5	176936823	176936823	176869429	176869429	Frame_Shift_Del	DEL	C	0	NM_024872.2	p.A11fs	NULL	0	0	0	Novel: Gene DOK3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	16	6	27.27	36	12	25	4	0	0
ADAMTS2	1	0	0	5	178699927	178699927	178632533	178632533	Nonsense_Mutation	SNP	G	A	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
BTNL9	4	0	0	5	180477254	180477254	180409860	180409860	Frame_Shift_Del	DEL	C	0	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	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	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	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
MYLK4	1	0	0	6	2685715	2685715	2630714	2630714	Splice_Site	SNP	A	G	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
BPHL	1	0	0	6	3123947	3123947	3068946	3068946	Frame_Shift_Del	DEL	A	0	NM_004332.2	p.Q55fs	superfamily_alpha/beta-Hydrolases	0	0	0	Novel: Gene BPHL in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	255	100	27.93	332	143	29.92	1	0	0
GCNT2	1	0	0	6	10529844	10529844	10637830	10637830	Nonsense_Mutation	SNP	C	T	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
MYLIP	1	0	0	6	16141920	16141920	16249899	16249899	Nonsense_Mutation	SNP	C	T	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
GMPR	3	0	0	6	16290848	16290849	16398827	16398828	Frame_Shift_Ins	INS	0	AC	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	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
GMPR	3	0	0	6	16290848	16290849	16398827	16398828	Frame_Shift_Ins	INS	0	AC	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
LRRC16A	1	0	0	6	25420357	25420357	25528336	25528336	Nonsense_Mutation	SNP	C	T	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
HIST1H4A	1	0	0	6	26022173	26022173	26130152	26130152	Nonsense_Mutation	SNP	C	A	NM_003538.3	p.Y89*	"HMMSmart_SM00417,HMMSmart_SM00803,HMMPfam_Histone,superfamily_Histone-fold"	0	0	0	Novel: Gene HIST1H4A in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	53	36	39.56	66	57	45.97	0	0	0
HIST1H4B	1	0	0	6	26027456	26027457	26135435	26135436	Frame_Shift_Ins	INS	0	A	NM_003544.2	p.K8fs	superfamily_Histone-fold	0	0	0	Novel: Gene HIST1H4B in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	235	88	35.2	275	78	26.62	2	0	0
HIST1H1C	1	0	0	6	26056531	26056532	26164510	26164511	Frame_Shift_Del	DEL	CT	0	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
BTN2A2	1	0	0	6	26390936	26390936	26498915	26498915	Splice_Site	SNP	G	A	NM_006995.3	e5+1	0	0	0	0	Novel: Gene BTN2A2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	23	33	58.93	26	26	50	3	5	62.5
BTN2A1	3	0	0	6	26463700	26463701	26571679	26571680	Frame_Shift_Ins	INS	0	T	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	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	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
HIST1H3H	1	0	0	6	27777909	27777909	27885888	27885888	Nonsense_Mutation	SNP	C	T	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
MRPS18B	1	0	0	6	30587279	30587279	30695258	30695258	Nonsense_Mutation	SNP	C	T	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
CCHCR1	1	0	0	6	31112723	31112724	31220702	31220703	Frame_Shift_Ins	INS	0	CT	NM_001105564.1	p.S668fs	HMMPfam_HCR	0	0	0	Novel: Gene CCHCR1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	123	45	36	115	46	39.32	8	0	0
VARS	1	0	0.005	6	31760258	31760258	31868237	31868237	Nonsense_Mutation	SNP	G	A	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
HSPA1L	1	0	0	6	31778962	31778978	31886941	31886957	Frame_Shift_Del	DEL	CTCACGGCTCGCTTGTT	0	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
HSPA1A	1	0	0	6	31785316	31785317	31893295	31893296	Frame_Shift_Del	DEL	AA	0	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
AGER	1	0	0	6	32150890	32150890	32258868	32258868	Splice_Site	SNP	C	A	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
PSMB9	1	0	0	6	32823983	32823983	32931961	32931961	Splice_Site	SNP	G	A	NM_002800.4	e2+1	0	0	0	0	Novel: Gene PSMB9 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	54	22	28.95	26	25	49.02	NA	NA	NA
SLC39A7	1	0	0	6	33168716	33168716	33276694	33276694	Splice_Site	SNP	G	A	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
BRPF3	1	0	0	6	36181755	36181755	36289733	36289733	Frame_Shift_Del	DEL	C	0	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
DNAH8	1	0	0	6	38858436	38858436	38966414	38966414	Nonsense_Mutation	SNP	G	T	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
KIF6	1	0	0	6	39387723	39387723	39495701	39495701	Splice_Site	SNP	C	T	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
UNC5CL	1	0	0	6	41001632	41001632	41109610	41109610	Frame_Shift_Del	DEL	A	0	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
PGC	1	0	0	6	41708319	41708319	41816297	41816297	Frame_Shift_Del	DEL	A	0	NM_002630.3	p.V226fs	"HMMPfam_Asp,superfamily_Pept_Aspartic"	0	0	0	Novel: Gene PGC in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	176	76	29.12	85	42	31.82	0	0	0
SLC22A7	1	0	0	6	43267363	43267363	43375341	43375341	Splice_Site	SNP	A	G	NM_153320.2	e4-2	0	0	0	0	Novel: Gene SLC22A7 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	59	71	54.62	37	43	53.75	0	0	0
AARS2	1	0	0	6	44273389	44273389	44381367	44381367	Splice_Site	DEL	C	0	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
TMEM14A	1	0	0	6	52546609	52546609	52654568	52654568	Splice_Site	SNP	A	G	NM_014051.3	e2-2	0	0	0	0	Novel: Gene TMEM14A in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	120	83	40.89	105	74	41.34	0	1	100
DST	1	0	0.01	6	56480857	56480858	56588816	56588817	Frame_Shift_Ins	INS	0	G	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
KIAA1586	2	0	0	6	56917687	56917688	57025646	57025647	Frame_Shift_Ins	INS	0	CC	NM_020931.2	p.L130fs	NULL	0	0	0	Novel: Gene KIAA1586 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	39	19	47.5	65	35	50	31	18	56.25
KIAA1586	2	0	0	6	56918825	56918826	57026784	57026785	Frame_Shift_Ins	INS	0	A	NM_020931.2	p.Y510fs	NULL	0	0	0	Novel: Gene KIAA1586 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	60	35	54.69	80	35	43.75	2	0	0
LGSN	1	0	0	6	63989953	63989954	64047912	64047913	Frame_Shift_Del	DEL	TC	0	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
EYS	1	0	0	6	64709008	64709008	64766967	64766967	Frame_Shift_Del	DEL	G	0	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
LMBRD1	1	0	0	6	70411362	70411362	70468083	70468083	Frame_Shift_Del	DEL	C	0	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
DDX43	1	0	0	6	74115451	74115451	74172172	74172172	Nonsense_Mutation	SNP	C	T	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
HMGN3	1	0	0	6	79924695	79924695	79981414	79981414	Frame_Shift_Del	DEL	T	0	NM_004242.2	p.K20fs	"HMMPfam_HMG14_17,HMMSmart_SM00527"	0	0	0	Novel: Gene HMGN3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	24	13	35.14	28	8	21.62	2	0	0
IBTK	1	0	0	6	82910337	82910337	82967056	82967056	Nonsense_Mutation	SNP	A	T	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
SNX14	1	0	0	6	86253455	86253455	86310174	86310174	Nonsense_Mutation	SNP	G	A	NM_153816.3	p.R378*	"HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS"	0	0	0	Novel: Gene SNX14 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	12	8	40	14	14	48.28	46	27	36.99
GJA10	1	0	0	6	90605508	90605508	90662229	90662229	Nonsense_Mutation	SNP	C	T	NM_032602.1	p.R441*	NULL	0	0	0	Novel: Gene GJA10 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	64	69	51.88	88	79	47.31	0	0	0
TSG1	1	0	0	6	94433833	94433833	94490554	94490554	Splice_Site	SNP	G	A	NR_015362.1	NULL	0	0	0	0	Novel: Gene TSG1 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	16	18	52.94	11	15	57.69	NA	NA	NA
USP45	3	0	0	6	99914641	99914641	100021362	100021362	Splice_Site	SNP	T	A	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	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	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
ASCC3	1	0	0	6	101037936	101037936	101144657	101144657	Splice_Site	SNP	C	T	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
KIAA1919	2	0	0	6	111587579	111587580	111694272	111694273	Frame_Shift_Ins	INS	0	C	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	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
TUBE1	1	0	0	6	112393960	112393960	112500653	112500653	Splice_Site	SNP	C	T	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
LAMA4	1	0	0	6	112575027	112575027	112681720	112681720	Nonsense_Mutation	SNP	G	C	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
RFPL4B	1	0	0	6	112671145	112671145	112777838	112777838	Nonsense_Mutation	SNP	C	T	NM_001013734.2	p.R79*	NULL	0	0	0	Novel: Gene RFPL4B 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	67	63	48.46	48	46	48.94	0	0	0
HDAC2	1	0	0.005	6	114265443	114265443	114372136	114372136	Splice_Site	SNP	C	T	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
COL10A1	1	0	0	6	116446586	116446586	116553279	116553279	Nonsense_Mutation	SNP	G	A	NM_000493.3	p.R24*	NULL	0	0	0	Novel: Gene COL10A1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	0.0142	0	0.0093	NA	NA	NA	188	180	48.78	169	120	41.52	2	0	0
FAM26E	1	0	0	6	116833077	116833077	116939770	116939770	Nonsense_Mutation	SNP	C	A	NM_153711.2	p.S73*	NULL	0	0	0	Novel: Gene FAM26E in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	40	25	38.46	29	28	49.12	0	0	0
GJA1	2	0	0	6	121768925	121768925	121810624	121810624	Frame_Shift_Del	DEL	C	0	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	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
LAMA2	1	0	0.005	6	129634124	129634124	129675817	129675817	Frame_Shift_Del	DEL	G	0	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
EPB41L2	1	0	0	6	131191250	131191251	131232943	131232944	Frame_Shift_Del	DEL	AG	0	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
MED23	1	0	0	6	131929202	131929202	131970895	131970895	Frame_Shift_Del	DEL	G	0	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
ENPP3	1	0	0	6	132058571	132058574	132100264	132100267	Frame_Shift_Del	DEL	AAGT	0	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
SGK1	1	0	0	6	134498840	134498840	134540533	134540533	Frame_Shift_Del	DEL	G	0	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
AHI1	1	0	0	6	135776913	135776913	135818606	135818606	Nonsense_Mutation	SNP	G	A	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
NHSL1	1	0	0	6	138817509	138817509	138859202	138859202	Splice_Site	SNP	C	A	NM_001144060.1	e2-1	0	0	0	0	Novel: Gene NHSL1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.079	0.1425	0.0928	NA	NA	NA	13	13	50	9	8	47.06	0	0	0
CCDC28A	1	0	0	6	139101012	139101012	139142705	139142705	Nonsense_Mutation	SNP	C	G	NM_015439.2	p.S161*	NULL	0	0	0	Novel: Gene CCDC28A 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	5	4	44.44	10	12	54.55	NA	NA	NA
SHPRH	1	0	0	6	146276346	146276346	146318039	146318039	Frame_Shift_Del	DEL	T	0	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
KATNA1	1	0	0	6	149925801	149925801	149967494	149967494	Nonsense_Mutation	SNP	G	A	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
MYCT1	1	0	0	6	153042963	153042963	153084656	153084656	Nonsense_Mutation	SNP	C	T	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
MRPL18	1	0	0	6	160218356	160218357	160138346	160138347	Frame_Shift_Ins	INS	0	TT	NM_014161.3	p.V94fs	superfamily_Translational machinery components	0	0	0	Novel: Gene MRPL18 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	32	12	37.5	39	21	52.5	36	0	0
LPA	5	0	0.005	6	160969693	160969693	160889683	160889683	Splice_Site	SNP	T	C	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	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	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	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	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
PARK2	1	0	0	6	162475122	162475122	162395112	162395112	Splice_Site	SNP	C	G	NM_004562.2	e5+1	0	0	0	0	Novel: Gene PARK2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	17	13	43.33	13	16	55.17	NA	NA	NA
PACRG	1	0	0	6	163235289	163235289	163155279	163155279	Frame_Shift_Del	DEL	G	0	NM_152410.2	p.G91fs	HMMPfam_ParcG	0	0	0	Novel: Gene PACRG in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	26	10	27.78	22	9	29.03	0	0	0
TCP10	2	0	0	6	167786761	167786761	167706751	167706751	Nonsense_Mutation	SNP	G	A	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	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
KIF25	1	0	0	6	168431501	168431501	168174350	168174350	Nonsense_Mutation	SNP	C	A	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
WDR27	2	0	0.005	6	170060843	170060843	169802768	169802768	Frame_Shift_Del	DEL	G	0	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	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
MMD2	1	0	0	7	4965150	4965150	4931676	4931676	Nonsense_Mutation	SNP	G	A	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
ZNF853	1	0	0	7	6661475	6661475	6628000	6628000	Nonsense_Mutation	SNP	C	T	NM_017560.1	p.Q285*	NULL	0	0	0	Novel: Gene ZNF853 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	8	9	52.94	12	12	50	0	0	0
VWDE	1	0	0	7	12409837	12409837	12376362	12376362	Nonsense_Mutation	SNP	T	A	NM_001135924.1	p.K699*	NULL	0	0	0	Novel: Gene VWDE in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	36	23	38.33	27	14	34.15	NA	NA	NA
SOSTDC1	2	0	0	7	16502202	16502202	16468727	16468727	Frame_Shift_Del	DEL	T	0	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	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
FERD3L	1	0	0	7	19184847	19184847	19151372	19151372	Nonsense_Mutation	SNP	G	A	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
ABCB5	1	0	0	7	20691041	20691041	20657566	20657566	Splice_Site	SNP	A	G	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
DNAH11	1	0	0.005	7	21723548	21723548	21690073	21690073	Frame_Shift_Del	DEL	T	0	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
KLHL7	1	0	0	7	23164716	23164716	23131241	23131241	Nonsense_Mutation	SNP	C	T	NM_001031710.2	p.Q123*	"HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB"	0	0	0	Novel: Gene KLHL7 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	29	23	44.23	21	28	57.14	2	1	33.33
NPVF	2	0	0	7	25264778	25264779	25231303	25231304	Frame_Shift_Ins	INS	0	C	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
NPVF	2	0	0	7	25264778	25264779	25231303	25231304	Frame_Shift_Ins	INS	0	C	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
HOXA7	1	0	0	7	27195934	27195934	27162459	27162459	Nonsense_Mutation	SNP	G	C	NM_006896.3	p.Y77*	NULL	0	0	0	Novel: Gene HOXA7 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	17	20	54.05	20	8	28.57	0	0	0
FAM188B	1	0	0	7	30868293	30868293	30834818	30834818	Splice_Site	SNP	A	G	NM_032222.2	e6-2	0	0	0	0	Novel: Gene FAM188B in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	181	150	45.32	141	105	42.68	0	0	0
CCDC129	1	0	0	7	31617907	31617907	31584432	31584432	Frame_Shift_Del	DEL	G	0	NM_194300.2	p.A344fs	NULL	0	0	0	Novel: Gene CCDC129 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	131	58	30.69	158	58	26.73	0	0	0
NPSR1	1	0	0	7	34889181	34889181	34855706	34855706	Nonsense_Mutation	SNP	C	T	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
AEBP1	1	0	0	7	44148496	44148496	44115021	44115021	Splice_Site	SNP	A	G	NM_001129.3	e7-2	0	0	0	0	Novel: Gene AEBP1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	5	6	54.55	6	13	68.42	0	0	0
NPC1L1	1	0	0	7	44556885	44556885	44523410	44523410	Nonsense_Mutation	SNP	G	A	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
UPP1	1	0	0	7	48147020	48147020	48113545	48113545	Nonsense_Mutation	SNP	G	T	NM_003364.2	p.E237*	"HMMPfam_PNP_UDP_1,superfamily_Purine and uridine phosphorylases"	0	0	0	Novel: Gene UPP1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	43	50	53.76	38	28	42.42	34	16	32
ABCA13	2	0	0	7	48391885	48391885	48362431	48362431	Nonsense_Mutation	SNP	C	T	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	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
VOPP1	1	0	0	7	55639963	55639963	55607457	55607457	Splice_Site	SNP	C	T	NM_030796.3	e1+1	0	0	0	0	Novel: Gene VOPP1 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	3	6	66.67	4	10	71.43	0	0	0
ZNF479	1	0	0	7	57188132	57188132	57192074	57192074	Nonsense_Mutation	SNP	A	T	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
ZNF273	1	0	0	7	64388631	64388631	64026066	64026066	Nonsense_Mutation	SNP	A	T	NM_021148.2	p.K309*	"HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers"	0	0	0	Novel: Gene ZNF273 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	33	23	41.07	27	29	51.79	1	9	90
ERV3	1	0	0	7	64452126	64452126	64089561	64089561	Nonsense_Mutation	SNP	G	A	NM_001007253.3	p.R427*	NULL	0	0	0	Novel: Gene ERV3 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	0.2262	0.1288	0.1952	0	0.002	0.0005	38	17	30.91	44	21	32.31	18	7	28
ELN	2	X	0.005	7	73469100	73469100	73107036	73107036	Splice_Site	SNP	G	A	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	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
STAG3L2	2	0	0	7	74300557	74300564	73938493	73938500	Frame_Shift_Del	DEL	AGAGCTCC	0	NM_001025202.2	p.E82fs	superfamily_ARM repeat	0	0	0	Novel: Gene STAG3L2 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	116	38	24.68	56	12	17.39	NA	NA	NA
STAG3L2	2	0	0	7	74300557	74300564	73938493	73938500	Frame_Shift_Del	DEL	AGAGCTCC	0	NM_001025202.2	p.E82fs	superfamily_ARM repeat	0	0	0	Novel: Gene STAG3L2 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	109	41	27.33	71	20	21.98	NA	NA	NA
PION	1	0	0	7	77011890	77011890	76849826	76849826	Splice_Site	SNP	C	T	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
CD36	2	0	0	7	80293813	80293814	80131749	80131750	Frame_Shift_Ins	INS	0	GTAA	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	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
SAMD9	1	0	0	7	92733358	92733358	92571294	92571294	Nonsense_Mutation	SNP	G	A	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
HEPACAM2	1	0	0	7	92844744	92844744	92682680	92682680	Nonsense_Mutation	SNP	C	A	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
SGCE	1	0	0	7	94229008	94229008	94066944	94066944	Splice_Site	SNP	C	T	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
CYP3A5	3	0	0	7	99273810	99273811	99111746	99111747	Frame_Shift_Ins	INS	0	C	NM_000777.2	p.L32fs	NULL	0	0	0	Novel: Gene CYP3A5 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0.01	0	0.01	13	6	46.15	40	9	21.95	NA	NA	NA
CYP3A5	3	0	0	7	99273810	99273811	99111746	99111747	Frame_Shift_Ins	INS	0	C	NM_000777.2	p.L32fs	NULL	0	0	0	Novel: Gene CYP3A5 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0.01	0	0.01	21	8	36.36	13	4	28.57	NA	NA	NA
CYP3A5	3	0	0	7	99273810	99273811	99111746	99111747	Frame_Shift_Ins	INS	0	C	NM_000777.2	p.L32fs	NULL	0	0	0	Novel: Gene CYP3A5 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0.01	0	0.01	26	15	55.56	31	11	35.48	0	0	0
PVRIG	1	0	0	7	99818815	99818816	99656751	99656752	Frame_Shift_Ins	INS	0	CT	NM_024070.3	p.P311fs	NULL	0	0	0	Novel: Gene PVRIG in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0.01	0	0.01	15	7	46.67	11	4	33.33	15	3	11.54
PILRA	1	0	0	7	99995536	99995536	99833472	99833472	Splice_Site	SNP	G	C	NM_013439.2	e4+1	0	0	0	0	Novel: Gene PILRA in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.0855	0	0.0558	NA	NA	NA	398	271	40.51	326	291	47.16	1	1	50
MUC17	1	0	0.005	7	100684586	100684586	100471306	100471306	Nonsense_Mutation	SNP	G	T	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
ORC5L	1	0	0	7	103807267	103807268	103594503	103594504	Frame_Shift_Del	DEL	GG	0	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
SLC26A4	1	0	0	7	107323983	107323983	107111219	107111219	Splice_Site	SNP	G	A	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
LAMB4	1	0	0	7	107718660	107718660	107505896	107505896	Frame_Shift_Del	DEL	T	0	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
PPP1R3A	4	0	0.01	7	113519161	113519162	113306397	113306398	Frame_Shift_Del	DEL	CT	0	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	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	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	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
AASS	1	0	0	7	121717945	121717948	121505181	121505184	Frame_Shift_Del	DEL	ATGG	0	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
IQUB	1	0	0	7	123136861	123136861	122924097	122924097	Nonsense_Mutation	SNP	G	A	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
POT1	1	0	0	7	124481233	124481233	124268469	124268469	Splice_Site	SNP	C	T	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
RBM28	1	0	0	7	127978303	127978303	127765539	127765539	Splice_Site	SNP	C	A	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
FAM71F1	1	0	0	7	128370014	128370017	128157250	128157253	Frame_Shift_Del	DEL	TTCA	0	NM_032599.2	p.F306fs	NULL	0	0	0	Novel: Gene FAM71F1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	476	153	24.32	298	81	21.32	NA	NA	NA
TNPO3	1	0	0	7	128655031	128655031	128442267	128442267	Splice_Site	SNP	A	T	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
AHCYL2	1	0	0	7	129062714	129062714	128849950	128849950	Nonsense_Mutation	SNP	C	T	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
ADCK2	1	0	0	7	140373722	140373723	140020191	140020192	Frame_Shift_Del	DEL	CT	0	NM_052853.3	p.S199fs	HMMPfam_ABC1	0	0	0	Novel: Gene ADCK2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	107	47	30.13	80	36	31.03	NA	NA	NA
MGAM	2	0	0.005	7	141719064	141719064	141365533	141365533	Nonsense_Mutation	SNP	C	A	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	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
FAM115C	2	0	0	7	143417404	143417405	143048337	143048338	Frame_Shift_Del	DEL	CT	0	NM_001130025.1	p.Q420fs	NULL	0	0	0	Novel: Gene FAM115C in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	33	5	13.16	28	7	20	1	0	0
FAM115C	2	0	0	7	143417404	143417405	143048337	143048338	Frame_Shift_Del	DEL	CT	0	NM_001130025.1	p.Q420fs	NULL	0	0	0	Novel: Gene FAM115C in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	14	4	21.05	25	10	28.57	2	0	0
ARHGEF35	1	0	0	7	143884201	143884202	143515134	143515135	Frame_Shift_Ins	INS	0	G	NM_001003702.2	p.S425fs	NULL	0	0	0	Novel: Gene ARHGEF35 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	135	62	45.26	99	49	48.51	0	0	0
ABCB8	1	0	0	7	150730771	150730771	150361704	150361704	Nonsense_Mutation	SNP	C	T	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
CRYGN	1	0	0	7	151133325	151133326	150764258	150764259	Frame_Shift_Del	DEL	GA	0	NM_144727.1	p.L119fs	"HMMPfam_Crystall,superfamily_gamma-Crystallin-like"	0	0	0	Novel: Gene CRYGN in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	35	14	28	22	10	31.25	0	0	0
MCPH1	1	0	0	8	6293568	6293568	6280976	6280976	Splice_Site	SNP	G	C	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
BLK	1	0	0	8	11420571	11420571	11457980	11457980	Nonsense_Mutation	SNP	G	T	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
MTUS1	1	0	0.005	8	17611268	17611269	17655548	17655549	Frame_Shift_Del	DEL	TT	0	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
SH2D4A	1	0	0	8	19177175	19177175	19221455	19221455	Nonsense_Mutation	SNP	G	A	NM_022071.3	p.W39*	NULL	0	0	0	Novel: Gene SH2D4A in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.0285	0	0.0186	NA	NA	NA	79	57	41.91	141	108	43.37	0	0	0
CSGALNACT1	1	0	0	8	19316142	19316142	19360422	19360422	Frame_Shift_Del	DEL	T	0	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
SLC18A1	1	0	0.005	8	20022619	20022619	20066899	20066899	Splice_Site	SNP	C	G	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
TNFRSF10C	1	0	0	8	22972272	22972272	23028217	23028217	Frame_Shift_Del	DEL	T	0	NM_003841.2	p.C91fs	"HMMPfam_TNFR_c6,HMMSmart_SM00208,PatternScan_TNFR_NGFR_1,superfamily_TNF receptor-like"	0	0	0	Novel: Gene TNFRSF10C in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	397	162	28.72	389	145	27.1	8	0	0
STC1	1	0	0	8	23702339	23702339	23758284	23758284	Nonsense_Mutation	SNP	G	A	NM_003155.2	p.R230*	HMMPfam_Stanniocalcin	rs143563807	unknown	"YSAMUELS,"	Novel: Gene STC1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	85	85	50	91	83	47.7	0	0	0
GTF2E2	1	0	0	8	30469884	30469884	30589426	30589426	Nonsense_Mutation	SNP	G	A	NM_002095.4	p.R161*	NULL	0	0	0	Novel: Gene GTF2E2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	55	38	40.86	61	67	52.34	22	4	15.38
TEX15	2	0	0	8	30700834	30700835	30820376	30820377	Frame_Shift_Del	DEL	TC	0	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
TEX15	2	0	0	8	30700834	30700835	30820376	30820377	Frame_Shift_Del	DEL	TC	0	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
KCNU1	3	0	0.02	8	36664952	36664952	36784110	36784110	Nonsense_Mutation	SNP	C	T	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	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	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
RAB11FIP1	1	0	0.005	8	37732460	37732460	37851618	37851618	Nonsense_Mutation	SNP	G	A	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
ADAM18	1	0	0	8	39581304	39581304	39700461	39700461	Nonsense_Mutation	SNP	G	A	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
MYST3	1	X	0	8	41834751	41834751	41953908	41953908	Nonsense_Mutation	SNP	C	A	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
DKK4	1	0	0	8	42233350	42233350	42352507	42352507	Splice_Site	SNP	T	C	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
HGSNAT	1	0	0	8	43046739	43046739	43165896	43165896	Splice_Site	SNP	G	A	NM_152419.2	e12+1	0	0	0	0	Novel: Gene HGSNAT in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	7	9	56.25	11	12	52.17	2	6	66.67
POTEA	2	0	0	8	43152162	43152162	43271319	43271319	Splice_Site	SNP	G	C	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	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
ASPH	1	0	0	8	62559417	62559417	62721971	62721971	Nonsense_Mutation	SNP	G	A	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
TRIM55	2	0	0	8	67066281	67066281	67228835	67228835	Splice_Site	SNP	G	C	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	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
ARFGEF1	1	0	0	8	68163686	68163686	68326240	68326240	Splice_Site	SNP	C	T	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
LACTB2	1	0	0	8	71550822	71550823	71713376	71713377	Frame_Shift_Del	DEL	AG	0	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
XKR9	1	0	0	8	71646149	71646150	71808703	71808704	Frame_Shift_Del	DEL	AT	0	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
TRPA1	1	0	0	8	72938194	72938194	73100748	73100748	Splice_Site	SNP	C	T	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
ATP6V0D2	1	0	0	8	87163770	87163770	87232886	87232886	Splice_Site	SNP	G	T	NM_152565.1	e7+1	0	rs150698519	by-1000genomes	"1000GENOMES,"	Novel: Gene ATP6V0D2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0	0	0.0023	15	16	51.61	13	16	55.17	0	0	0
CNGB3	1	0	0	8	87656009	87656009	87725125	87725125	Frame_Shift_Del	DEL	G	0	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
OTUD6B	1	0	0	8	92082590	92082591	92151766	92151767	Frame_Shift_Ins	INS	0	T	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
GEM	1	0	0	8	95265263	95265263	95334439	95334439	Splice_Site	SNP	C	T	NM_005261.3	e2+1	0	0	0	0	Novel: Gene GEM in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	12	15	55.56	17	23	57.5	0	0	0
PGCP	1	0	0	8	97797137	97797138	97866313	97866314	Frame_Shift_Ins	INS	0	A	NM_016134.2	p.I4fs	NULL	0	0	0	Novel: Gene PGCP in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	192	82	40.39	256	110	38.87	14	2	13.33
VPS13B	1	0	0.005	8	100830940	100830940	100900116	100900116	Splice_Site	SNP	G	T	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
TRHR	1	0	0	8	110131503	110131503	110200679	110200679	Frame_Shift_Del	DEL	A	0	NM_003301.4	p.Q339fs	superfamily_SSF81321	0	0	0	Novel: Gene TRHR in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	449	170	27.29	311	120	27.71	0	0	0
PKHD1L1	7	0	0.01	8	110416931	110416931	110486107	110486107	Nonsense_Mutation	SNP	C	T	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	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	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	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	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	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	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
ENPP2	1	0	0	8	120580420	120580420	120649601	120649601	Frame_Shift_Del	DEL	A	0	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
WDYHV1	1	0	0	8	124449538	124449538	124518719	124518719	Nonsense_Mutation	SNP	G	T	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
KLHL38	1	0	0	8	124664908	124664908	124734089	124734089	Nonsense_Mutation	SNP	G	A	NM_001081675.2	p.Q87*	"HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB"	0	0	0	Novel: Gene KLHL38 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.0442	0	0.0294	NA	NA	NA	67	71	51.45	100	86	46.24	0	0	0
ANXA13	1	0	0	8	124710695	124710696	124779876	124779877	Frame_Shift_Ins	INS	0	T	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
NSMCE2	1	0	0	8	126194425	126194425	126263607	126263607	Frame_Shift_Del	DEL	T	0	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
ASAP1	1	0	0	8	131129163	131129166	131198345	131198348	Frame_Shift_Del	DEL	CAAA	0	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
FAM83H	3	0	0	8	144811340	144811340	144883328	144883328	Nonsense_Mutation	SNP	G	A	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	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	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
SHARPIN	1	0	0	8	145158062	145158062	145230050	145230050	Nonsense_Mutation	SNP	G	A	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
CYHR1	1	0	0	8	145689806	145689806	145660614	145660614	Nonsense_Mutation	SNP	C	A	NM_001129888.1	p.G95*	NULL	0	0	0	Novel: Gene CYHR1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.0997	0.0535	0.0837	0.0026	0	0.0009	5	6	54.55	7	7	50	12	10	45.45
TYRP1	1	0	0	9	12702411	12702414	12692411	12692414	Frame_Shift_Del	DEL	ACAA	0	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
ADAMTSL1	1	0	0.005	9	18680427	18680427	18670427	18670427	Nonsense_Mutation	SNP	G	A	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
IFT74	1	0	0	9	26978262	26978262	26968262	26968262	Splice_Site	SNP	G	C	NM_001099222.1	e2+1	0	0	0	0	Novel: Gene IFT74 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	46	38	45.24	69	63	47.73	3	16	84.21
AQP7	1	0	0	9	33395080	33395080	33385080	33385080	Frame_Shift_Del	DEL	A	0	NM_001170.1	p.M47fs	"HMMPfam_MIP,superfamily_MIP"	0	0	0	Novel: Gene AQP7 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	107	40	26.85	165	55	24.89	0	0	0
KIF24	1	0	0	9	34259593	34259593	34249593	34249593	Splice_Site	SNP	C	T	NM_194313.2	e9+1	0	0	0	0	Novel: Gene KIF24 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	300	290	49.15	166	162	49.39	0	0	0
DNAI1	1	0	0.01	9	34517466	34517466	34507466	34507466	Splice_Site	SNP	G	A	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
DCTN3	1	0	0	9	34618758	34618758	34608758	34608758	Splice_Site	SNP	C	G	NM_007234.3	e2-1	0	0	0	0	Novel: Gene DCTN3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	14	14	50	9	19	67.86	NA	NA	NA
PIGO	1	0	0	9	35095199	35095199	35085199	35085199	Nonsense_Mutation	SNP	G	A	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
STOML2	1	0	0	9	35101225	35101225	35091225	35091225	Nonsense_Mutation	SNP	G	A	NM_013442.1	p.R211*	HMMPfam_Band_7	0	0	0	Novel: Gene STOML2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	5	8	61.54	19	14	42.42	71	7	8.97
TMEM8B	1	0	0	9	35846275	35846276	35836275	35836276	Frame_Shift_Del	DEL	CT	0	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
RG9MTD3	3	0	0	9	37777620	37777620	37767620	37767620	Nonsense_Mutation	SNP	C	A	NM_144964.2	p.Y289*	HMMPfam_tRNA_m1G_MT	0	0	0	Novel: Gene RG9MTD3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	134	95	41.48	146	93	38.75	10	9	47.37
RG9MTD3	3	0	0	9	37777620	37777620	37767620	37767620	Nonsense_Mutation	SNP	C	A	NM_144964.2	p.Y289*	HMMPfam_tRNA_m1G_MT	0	0	0	Novel: Gene RG9MTD3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	115	89	43.63	90	87	49.15	20	9	31.03
RG9MTD3	3	0	0	9	37777620	37777620	37767620	37767620	Nonsense_Mutation	SNP	C	A	NM_144964.2	p.Y289*	HMMPfam_tRNA_m1G_MT	0	0	0	Novel: Gene RG9MTD3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	81	53	39.55	42	56	57.14	3	5	62.5
ALDH1B1	1	0	0	9	38396906	38396906	38386906	38386906	Frame_Shift_Del	DEL	C	0	NM_000692.3	p.G388fs	"HMMPfam_Aldedh,superfamily_ALDH-like"	0	0	0	Novel: Gene ALDH1B1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0.01	0.01	0.01	283	108	27.62	148	54	26.6	7	0	0
ANKRD20A2	1	0	0	9	42368574	42368575	42358570	42358571	Frame_Shift_Del	DEL	GC	0	NM_001012421.1	p.R55fs	"HMMPfam_Ank,superfamily_ANK"	0	0	0	Novel: Gene ANKRD20A2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	64	9	12.33	84	18	17.65	1	1	50
FAM75A6	3	0	0	9	43624907	43624907	43564903	43564903	Nonsense_Mutation	SNP	A	C	NM_001145196.1	p.Y1260*	NULL	0	0	0	Novel: Gene FAM75A6 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.4995	0	0.4023	NA	NA	NA	1613	207	11.34	490	307	38.47	0	0	0
FAM75A6	3	0	0	9	43624907	43624907	43564903	43564903	Nonsense_Mutation	SNP	A	C	NM_001145196.1	p.Y1260*	NULL	0	0	0	Novel: Gene FAM75A6 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.4995	0	0.4023	NA	NA	NA	369	233	38.7	410	287	41.12	0	0	0
FAM75A6	3	0	0	9	43624907	43624907	43564903	43564903	Nonsense_Mutation	SNP	A	C	NM_001145196.1	p.Y1260*	NULL	0	0	0	Novel: Gene FAM75A6 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.4995	0	0.4023	NA	NA	NA	38	52	57.78	66	86	56.58	0	0	0
ANKRD20A1	3	0	0	9	67935972	67935972	67525792	67525792	Nonsense_Mutation	SNP	C	T	NM_032250.3	p.R233*	"HMMSmart_ANK,superfamily_ANK"	0	0	0	Novel: Gene ANKRD20A1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	2	57	96.61	4	92	95.83	0	0	0
ANKRD20A1	3	0	0	9	67968419	67968420	67558239	67558240	Frame_Shift_Ins	INS	0	T	NM_032250.3	p.T661fs	NULL	0	0	0	Novel: Gene ANKRD20A1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	91	19	20.88	388	93	23.97	0	0	0
ANKRD20A1	3	0	0	9	67968419	67968420	67558239	67558240	Frame_Shift_Ins	INS	0	T	NM_032250.3	p.T661fs	NULL	0	0	0	Novel: Gene ANKRD20A1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	353	98	27.68	599	166	27.62	0	0	0
FOXD4L5	1	0	0	9	70177096	70177097	69466916	69466917	Frame_Shift_Del	DEL	GA	0	NM_001126334.1	p.F296fs	NULL	0	0	0	Novel: Gene FOXD4L5 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	78	14	14.89	61	10	13.89	0	0	0
CBWD5	1	0	0	9	70483186	70483186	69723006	69723006	Splice_Site	SNP	A	G	NM_001024916.2	e4+2	0	0	0	0	Novel: Gene CBWD5 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	0	12	100	1	21	95.45	NA	NA	NA
OSTF1	1	0	0	9	77748215	77748215	76938035	76938035	Frame_Shift_Del	DEL	T	0	NM_012383.4	p.L86fs	"HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK"	0	0	0	Novel: Gene OSTF1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	291	135	30.89	328	170	33.27	19	0	0
CEP78	1	0	0	9	80881357	80881357	80071177	80071177	Splice_Site	SNP	G	C	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
FLJ46321	1	0	0	9	84608474	84608475	83798294	83798295	Frame_Shift_Ins	INS	0	A	NM_001001670.2	p.D1031fs	NULL	0	0	0	Novel: Gene FLJ46321 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	35	14	40	38	25	64.1	0	0	0
SLC28A3	1	0	0	9	86909122	86909122	86098942	86098942	Nonsense_Mutation	SNP	C	T	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
FANCC	1	X	0.005	9	97873912	97873912	96913733	96913733	Nonsense_Mutation	SNP	C	A	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
COL15A1	1	0	0	9	101751542	101751542	100791363	100791363	Splice_Site	SNP	T	A	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
INVS	1	0	0	9	103055234	103055234	102095055	102095055	Nonsense_Mutation	SNP	C	T	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
RNF20	1	0	0	9	104314940	104314943	103354761	103354764	Frame_Shift_Del	DEL	AGAG	0	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
NIPSNAP3A	2	0	0	9	107515286	107515287	106555107	106555108	Frame_Shift_Del	DEL	AA	0	NM_015469.1	p.Q124fs	HMMPfam_NIPSNAP	0	0	0	Novel: Gene NIPSNAP3A in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	51	16	23.88	113	30	20.55	1	0	0
NIPSNAP3A	2	0	0	9	107515286	107515287	106555107	106555108	Frame_Shift_Del	DEL	AA	0	NM_015469.1	p.Q124fs	HMMPfam_NIPSNAP	0	0	0	Novel: Gene NIPSNAP3A in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	108	38	25.5	121	42	25.61	1	0	0
HSDL2	1	0	0	9	115181193	115181193	114221014	114221014	Nonsense_Mutation	SNP	G	T	NM_032303.3	p.E185*	superfamily_NAD(P)-binding Rossmann-fold domains	0	0	0	Novel: Gene HSDL2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	88	63	41.72	160	129	44.64	NA	NA	NA
KIAA1958	1	0	0	9	115421810	115421810	114461631	114461631	Nonsense_Mutation	SNP	G	T	NM_133465.2	p.E538*	NULL	0	0	0	Novel: Gene KIAA1958 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	10	10	50	7	11	61.11	NA	NA	NA
ZNF883	2	0	0	9	115759539	115759539	114799360	114799360	Nonsense_Mutation	SNP	G	C	NM_001101338.1	p.S334*	"HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers"	0	0	0	Novel: Gene ZNF883 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	65	52	44.44	98	86	46.74	0	4	100
ZNF883	2	0	0	9	115759539	115759539	114799360	114799360	Nonsense_Mutation	SNP	G	C	NM_001101338.1	p.S334*	"HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers"	0	0	0	Novel: Gene ZNF883 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	93	88	48.35	41	49	54.44	1	0	0
ZFP37	1	0	0	9	115805694	115805694	114845515	114845515	Nonsense_Mutation	SNP	C	A	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
CEP110	1	X	0	9	123936017	123936017	122975838	122975838	Splice_Site	SNP	T	C	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
LRSAM1	1	0	0	9	130263375	130263375	129303196	129303196	Nonsense_Mutation	SNP	G	T	NM_001005373.1	p.E667*	superfamily_RING/U-box	0	0	0	Novel: Gene LRSAM1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	18	25	58.14	10	22	68.75	5	12	70.59
FPGS	1	0	0	9	130575622	130575623	129615443	129615444	Frame_Shift_Ins	INS	0	CTGG	NM_004957.4	p.P503fs	NULL	0	0	0	Novel: Gene FPGS in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	25	7	25.93	39	10	25	16	0	0
DOLK	1	0	0	9	131709581	131709582	130749402	130749403	Frame_Shift_Ins	INS	0	T	NM_014908.3	p.M1fs	NULL	0	0	0	Novel: Gene DOLK in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	17	7	38.89	17	6	35.29	0	0	0
PRDM12	1	0	0	9	133543700	133543701	132533521	132533522	Frame_Shift_Ins	INS	0	GT	NM_021619.2	p.M190fs	"HMMSmart_SM00317,superfamily_SET domain"	0	0	0	Novel: Gene PRDM12 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	59	11	18.64	47	7	14.89	NA	NA	NA
GTF3C5	1	0	0	9	135929214	135929214	134919035	134919035	Splice_Site	SNP	G	A	NM_001122823.1	e6-1	0	0	0	0	Novel: Gene GTF3C5 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	26	19	42.22	15	12	44.44	6	1	14.29
FCN1	1	0	0	9	137804330	137804330	136944151	136944151	Splice_Site	SNP	A	G	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
SDCCAG3	1	0	0	9	139300358	139300359	138420179	138420180	Frame_Shift_Del	DEL	TT	0	NM_001039707.1	p.E297fs	NULL	0	0	0	Novel: Gene SDCCAG3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	19	8	29.63	6	4	40	11	0	0
C8G	1	0	0	9	139841019	139841019	138960840	138960840	Splice_Site	SNP	G	A	NM_000606.2	e5+1	0	0	0	0	Novel: Gene C8G in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	8	1	11.11	18	7	28	0	1	100
LCN12	1	0	0	9	139847479	139847479	138967300	138967300	Nonsense_Mutation	SNP	C	T	NM_178536.3	p.R84*	"HMMPfam_Lipocalin,superfamily_Lipocalins"	0	0	0	Novel: Gene LCN12 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.029	0	0.019	NA	NA	NA	40	33	44	33	23	41.07	0	0	0
LCNL1	3	0	0	9	139879185	139879185	138999006	138999006	Nonsense_Mutation	SNP	C	T	NM_207510.3	p.R73*	superfamily_Lipocalins	0	0	0	Novel: Gene LCNL1 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	0.2315	0.0555	0.1712	0	0	NA	4	6	60	16	8	32	0	0	0
LCNL1	3	0	0	9	139879185	139879185	138999006	138999006	Nonsense_Mutation	SNP	C	T	NM_207510.3	p.R73*	superfamily_Lipocalins	0	0	0	Novel: Gene LCNL1 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	0.2315	0.0555	0.1712	0	0	NA	2	1	33.33	11	6	35.29	0	0	0
LCNL1	3	0	0	9	139879185	139879185	138999006	138999006	Nonsense_Mutation	SNP	C	T	NM_207510.3	p.R73*	superfamily_Lipocalins	0	0	0	Novel: Gene LCNL1 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	0.2315	0.0555	0.1712	0	0	NA	14	15	51.72	2	11	84.62	0	0	0
FAM166A	4	0	0.005	9	140138736	140138737	139258557	139258558	Frame_Shift_Del	DEL	AG	0	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	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	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	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
EXD3	1	0	0	9	140242692	140242692	139362513	139362513	Splice_Site	SNP	T	C	NM_017820.3	e16-2	0	0	0	0	Novel: Gene EXD3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.0442	0	0.0292	NA	NA	NA	4	5	55.56	9	10	52.63	0	0	0
PNPLA7	4	0	0.005	9	140444627	140444628	139564448	139564449	Frame_Shift_Ins	INS	0	T	NM_001098537.1	p.S8fs	NULL	0	0	0	Novel: Gene PNPLA7 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	7	3	42.86	10	3	30	4	0	0
PNPLA7	4	0	0.005	9	140444627	140444628	139564448	139564449	Frame_Shift_Ins	INS	0	T	NM_001098537.1	p.S8fs	NULL	0	0	0	Novel: Gene PNPLA7 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	27	14	50	36	14	37.84	0	0	0
PNPLA7	4	0	0.005	9	140444627	140444628	139564448	139564449	Frame_Shift_Ins	INS	0	T	NM_001098537.1	p.S8fs	NULL	0	0	0	Novel: Gene PNPLA7 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	7	6	75	23	9	39.13	1	0	0
PNPLA7	4	0	0.005	9	140444627	140444628	139564448	139564449	Frame_Shift_Ins	INS	0	T	NM_001098537.1	p.S8fs	NULL	0	0	0	Novel: Gene PNPLA7 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	15	9	56.25	23	10	43.48	8	0	0
TUBB8	1	0	0	10	93489	93489	83489	83489	Nonsense_Mutation	SNP	G	C	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
PITRM1	1	0	0	10	3205986	3205987	3195986	3195987	Frame_Shift_Del	DEL	CA	0	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
ITIH2	2	0	0.005	10	7769045	7769046	7809051	7809052	Frame_Shift_Ins	INS	0	C	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
ITIH2	2	0	0.005	10	7769045	7769046	7809051	7809052	Frame_Shift_Ins	INS	0	C	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
PHYH	2	0	0	10	13337608	13337608	13377614	13377614	Splice_Site	SNP	T	C	NM_006214.3	e3-2	0	0	0	0	Novel: Gene PHYH in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	0.0285	0	0.0186	NA	NA	NA	13	7	35	13	10	43.48	2	0	0
PHYH	2	0	0	10	13337608	13337608	13377614	13377614	Splice_Site	SNP	T	C	NM_006214.3	e3-2	0	0	0	0	Novel: Gene PHYH in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	0.0285	0	0.0186	NA	NA	NA	16	10	35.71	8	12	60	0	0	0
CDNF	1	0	0	10	14862042	14862043	14902048	14902049	Frame_Shift_Del	DEL	AT	0	NM_001029954.2	p.Y167fs	HMMPfam_Armet	0	0	0	Novel: Gene CDNF in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	314	128	28.89	199	79	28.42	4	1	20
HSPA14	1	0	0	10	14894505	14894505	14934511	14934511	Nonsense_Mutation	SNP	C	T	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
CUBN	2	0	0.005	10	16911802	16911803	16951808	16951809	Frame_Shift_Del	DEL	AG	0	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	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
TRDMT1	1	0	0	10	17201204	17201204	17241210	17241210	Nonsense_Mutation	SNP	G	A	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
NEBL	2	0	0	10	21134291	21134291	21174297	21174297	Frame_Shift_Del	DEL	A	0	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	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
ARMC3	2	0	0.005	10	23235119	23235120	23275125	23275126	Frame_Shift_Ins	INS	0	AA	NM_173081.3	p.M33fs	superfamily_ARM repeat	0	0	0	Novel: Gene ARMC3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	43	22	47.83	80	29	34.12	0	0	0
ARMC3	2	0	0.005	10	23270523	23270523	23310529	23310529	Splice_Site	SNP	G	A	NM_173081.3	e9-1	0	0	0	0	Novel: Gene ARMC3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	33	18	35.29	31	41	56.94	0	0	0
PRTFDC1	1	0	0	10	25231258	25231258	25271264	25271264	Splice_Site	SNP	C	T	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
YME1L1	1	0	0	10	27431360	27431360	27471366	27471366	Nonsense_Mutation	SNP	G	C	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
ZNF438	1	0	0	10	31138769	31138769	31178775	31178775	Frame_Shift_Del	DEL	T	0	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
CCDC7	1	0	0	10	32856718	32856718	32896724	32896724	Nonsense_Mutation	SNP	G	T	NM_001026383.1	p.E440*	NULL	0	0	0	Novel: Gene CCDC7 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	22	18	45	22	9	29.03	0	1	100
ANKRD30A	7	0	0.005	10	37414929	37414929	37454935	37454935	Nonsense_Mutation	SNP	C	T	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	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	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	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	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	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	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
MARCH8	1	0	0	10	45959759	45959759	45279765	45279765	Nonsense_Mutation	SNP	G	C	NM_001002265.1	p.S57*	superfamily_SSF57850	0	0	0	Novel: Gene MARCH8 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	107	89	45.41	97	98	50.26	30	9	23.08
SYT15	2	0	0.01	10	46962114	46962114	46382120	46382120	Splice_Site	SNP	T	C	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	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
GPRIN2	1	0	0	10	47000052	47000052	46420058	46420058	Nonsense_Mutation	SNP	G	A	NM_014696.3	p.W391*	NULL	0	0	0	Novel: Gene GPRIN2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	63	24	27.59	83	23	21.7	0	0	0
ZNF488	1	0	0	10	48370726	48370726	47990732	47990732	Frame_Shift_Del	DEL	C	0	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
ERCC6	1	0	0	10	50686517	50686519	50356523	50356525	Splice_Site	DEL	CTT	0	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
AGAP8	1	0	0	10	51225250	51225250	50895256	50895256	Nonsense_Mutation	SNP	G	A	NM_001077686.1	p.Q578*	superfamily_ANK	0	0	0	Novel: Gene AGAP8 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	33	187	85	31	176	84.62	0	0	0
AGAP7	1	0	0	10	51472653	51472653	51142659	51142659	Splice_Site	SNP	C	A	NM_001077685.1	e4-1	0	0	0	0	Novel: Gene AGAP7 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	160	177	52.37	141	123	46.59	1	0	0
ASAH2	1	0	0	10	52005020	52005020	51675026	51675026	Nonsense_Mutation	SNP	G	A	NM_019893.2	p.R108*	HMMPfam_Ceramidase_alk	0	0	0	Novel: Gene ASAH2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	580	221	27.52	395	450	53.13	0	0	0
ZNF365	1	0	0	10	64159291	64159291	63829297	63829297	Nonsense_Mutation	SNP	C	T	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
PBLD	1	0	0	10	70045089	70045090	69715095	69715096	Frame_Shift_Ins	INS	0	A	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
STOX1	1	0	0	10	70645893	70645893	70315899	70315899	Nonsense_Mutation	SNP	G	T	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
COL13A1	1	0	0	10	71690185	71690185	71360191	71360191	Frame_Shift_Del	DEL	C	0	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
DDIT4	1	0	0	10	74033988	74033988	73703994	73703994	Frame_Shift_Del	DEL	G	0	NM_019058.2	p.D6fs	NULL	0	0	0	Novel: Gene DDIT4 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	20	7	25.93	23	7	22.58	249	83	25
POLR3A	1	0	0	10	79753126	79753126	79423132	79423132	Splice_Site	SNP	C	T	NM_007055.3	e20-1	0	rs181087667	by-1000genomes	"1000GENOMES,"	Novel: Gene POLR3A in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0	0	NA	75	69	47.92	93	97	50.79	1	1	50
LRIT2	1	0	0	10	85984344	85984344	85974324	85974324	Nonsense_Mutation	SNP	G	A	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
WAPAL	1	0	0.005	10	88260502	88260502	88250482	88250482	Splice_Site	SNP	T	C	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
OPN4	1	0	0	10	88417867	88417867	88407847	88407847	Frame_Shift_Del	DEL	G	0	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
RNLS	1	0	0	10	90332761	90332761	90322741	90322741	Nonsense_Mutation	SNP	C	T	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
LIPJ	1	0	0	10	90351169	90351169	90341149	90341149	Frame_Shift_Del	DEL	A	0	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
RBP4	1	0	0	10	95360719	95360719	95350709	95350709	Nonsense_Mutation	SNP	G	A	NM_006744.3	p.R23*	superfamily_Lipocalins	0	0	0	Novel: Gene RBP4 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	11	16	59.26	9	30	76.92	0	0	0
FRA10AC1	1	0	0	10	95447191	95447191	95437181	95437181	Nonsense_Mutation	SNP	G	A	NM_145246.4	p.R161*	HMMPfam_Fra10Ac1	0	0	0	Novel: Gene FRA10AC1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.0146	0	0.0095	NA	NA	NA	3	5	62.5	3	8	72.73	14	6	30
NOC3L	1	0	0	10	96110027	96110027	96100017	96100017	Frame_Shift_Del	DEL	A	0	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
TCTN3	1	0	0	10	97444361	97444361	97434351	97434351	Frame_Shift_Del	DEL	G	0	NM_015631.5	p.N331fs	HMMPfam_DUF1619	0	0	0	Novel: Gene TCTN3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	78	35	30.97	51	29	36.25	8	0	0
DNTT	1	0	0	10	98078120	98078120	98068110	98068110	Frame_Shift_Del	DEL	C	0	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
ZFYVE27	1	0	0	10	99502913	99502916	99492903	99492906	Frame_Shift_Del	DEL	TGAA	0	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
HPS1	2	0	0	10	100185444	100185444	100175434	100175434	Frame_Shift_Del	DEL	G	0	NM_000195.2	p.Q397fs	NULL	0	0	0	Novel: Gene HPS1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	12	8	40	12	3	20	21	3	12.5
HPS1	2	0	0	10	100185444	100185444	100175434	100175434	Frame_Shift_Del	DEL	G	0	NM_000195.2	p.Q397fs	NULL	0	0	0	Novel: Gene HPS1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	20	7	25.93	26	9	25.71	NA	NA	NA
ENTPD7	1	0	0	10	101458589	101458589	101448579	101448579	Frame_Shift_Del	DEL	G	0	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
NCRNA00093	1	0	0	10	101687999	101687999	101677989	101677989	Splice_Site	SNP	T	G	NR_024130.1	NULL	0	0	0	0	Novel: Gene NCRNA00093 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	15	9	37.5	10	13	56.52	0	1	100
NDUFB8	2	0	0	10	102283682	102283682	102273672	102273672	Frame_Shift_Del	DEL	G	0	NM_005004.2	p.P158fs	HMMPfam_NDUF_B8	0	0	0	Novel: Gene NDUFB8 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	122	46	27.38	78	35	30.97	48	13	18.31
NDUFB8	2	0	0	10	102289160	102289160	102279150	102279150	Frame_Shift_Del	DEL	T	0	NM_005004.2	p.E63fs	HMMPfam_NDUF_B8	0	0	0	Novel: Gene NDUFB8 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	111	42	27.45	35	12	25.53	41	16	28.07
SFXN3	2	0	0	10	102796866	102796866	102786856	102786856	Frame_Shift_Del	DEL	G	0	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	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
TLX1NB	2	0	0	10	102849370	102849370	102839360	102839360	Frame_Shift_Del	DEL	T	0	NM_001085398.1	p.Q98fs	NULL	0	0	0	Novel: Gene TLX1NB not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0.01	0.0041	0.0041	20	9	30	14	5	26.32	0	0	0
TLX1NB	2	0	0	10	102849370	102849370	102839360	102839360	Frame_Shift_Del	DEL	T	0	NM_001085398.1	p.Q98fs	NULL	0	0	0	Novel: Gene TLX1NB not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0.01	0.0041	0.0041	40	10	19.61	20	10	31.25	0	0	0
ELOVL3	1	0	0	10	103988866	103988866	103978856	103978856	Frame_Shift_Del	DEL	A	0	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
PDCD11	1	0	0	10	105198566	105198566	105188556	105188556	Splice_Site	SNP	G	A	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
COL17A1	1	0	0	10	105795235	105795235	105785225	105785225	Nonsense_Mutation	SNP	G	A	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
PDCD4	1	0	0	10	112641131	112641131	112631121	112631121	Nonsense_Mutation	SNP	C	T	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
ABLIM1	2	0	0	10	116205082	116205082	116195072	116195072	Nonsense_Mutation	SNP	G	A	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	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
SEC23IP	1	0	0	10	121685740	121685740	121675730	121675730	Splice_Site	SNP	G	T	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
BTBD16	1	0	0.005	10	124058528	124058528	124048518	124048518	Nonsense_Mutation	SNP	G	T	NM_144587.2	p.E224*	NULL	0	0	0	Novel: Gene BTBD16 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0	0.0268	0.0093	NA	NA	NA	19	17	45.95	6	13	68.42	NA	NA	NA
DMBT1	2	0	0	10	124357488	124357488	124347478	124347478	Splice_Site	SNP	A	C	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	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
FAM24B	1	0	0	10	124609971	124609972	124599961	124599962	Frame_Shift_Del	DEL	AG	0	NM_152644.2	p.C21fs	NULL	0	0	0	Novel: Gene FAM24B in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	488	207	29.2	610	256	28.86	2	0	0
PSTK	1	0	0	10	124746892	124746892	124736882	124736882	Nonsense_Mutation	SNP	G	A	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
MKI67	1	0	0	10	129904010	129904013	129794000	129794003	Frame_Shift_Del	DEL	TCTC	0	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
JAKMIP3	1	0	0	10	133946942	133946942	133796932	133796932	Nonsense_Mutation	SNP	C	T	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
LRRC27	2	0	0	10	134151067	134151067	134001057	134001057	Splice_Site	SNP	A	C	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	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
SIRT3	1	0	0	11	233378	233378	223378	223378	Frame_Shift_Del	DEL	G	0	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
PHRF1	1	0	0	11	608507	608516	598507	598516	Frame_Shift_Del	DEL	GCGCTCTGGG	0	NM_020901.2	p.S1018fs	NULL	0	0	0	Novel: Gene PHRF1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	30	14	31.82	13	5	25	NA	NA	NA
CHID1	1	0	0	11	900079	900080	890079	890080	Frame_Shift_Ins	INS	0	T	NM_001142676.1	p.Y182fs	"HMMSmart_Glyco_18,superfamily_Glyco_hydro_cat"	0	0	0	Novel: Gene CHID1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	37	14	37.84	11	6	54.55	25	9	36
MUC6	1	0	0.005	11	1027390	1027390	1017390	1017390	Nonsense_Mutation	SNP	G	T	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
KRTAP5-6	1	0	0	11	1718663	1718663	1675239	1675239	Frame_Shift_Del	DEL	G	0	NM_001012416.1	p.C63fs	PatternScan_VWFC_1	0	0	0	Novel: Gene KRTAP5-6 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	242	91	27.33	165	65	28.26	0	0	0
UBQLNL	1	0	0	11	5537437	5537449	5494013	5494025	Frame_Shift_Del	DEL	GAAGGCAACCCAT	0	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
DNHD1	1	0	0	11	6589683	6589683	6546259	6546259	Splice_Site	SNP	G	A	NM_144666.2	e36-1	0	rs149040105	by-1000genomes	"1000GENOMES,"	Novel: Gene DNHD1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0	0.3988	0.1299	0	0.01	0.0023	24	23	48.94	23	51	68.92	0	0	0
RRP8	1	0	0	11	6622603	6622604	6579179	6579180	Frame_Shift_Del	DEL	AT	0	NM_015324.2	p.H231fs	NULL	0	0	0	Novel: Gene RRP8 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	203	78	27.76	46	17	26.98	16	4	18.18
ZNF214	1	0	0	11	7021206	7021206	6977782	6977782	Nonsense_Mutation	SNP	G	A	NM_013249.2	p.R570*	"HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers"	0	0	0	Novel: Gene ZNF214 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	15	18	54.55	16	25	60.98	0	0	0
MICALCL	1	0	0	11	12315863	12315863	12272439	12272439	Nonsense_Mutation	SNP	G	A	NM_032867.2	p.W295*	NULL	0	0	0	Novel: Gene MICALCL in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.1648	0.062	0.1313	0.0013	0	0.0005	13	22	59.46	11	16	59.26	0	0	0
INSC	1	0	0	11	15170777	15170777	15127353	15127353	Splice_Site	SNP	G	C	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
PIK3C2A	1	0	0	11	17156691	17156694	17113267	17113270	Frame_Shift_Del	DEL	CAAA	0	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
SAAL1	1	0	0	11	18110941	18110941	18067517	18067517	Nonsense_Mutation	SNP	C	A	NM_138421.2	p.E236*	NULL	0	0	0	Novel: Gene SAAL1 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	92	59	39.07	66	77	53.85	NA	NA	NA
MRGPRX4	1	0	0	11	18195459	18195460	18152035	18152036	Frame_Shift_Ins	INS	0	C	NM_054032.3	p.L220fs	"HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like"	0	0	0	Novel: Gene MRGPRX4 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	48	19	39.58	94	41	42.71	NA	NA	NA
SAA2	1	0	0	11	18261517	18261517	18218093	18218093	Splice_Site	SNP	C	A	NM_001127380.1	e3-1	0	rs144841641	by-1000genomes	"1000GENOMES,"	Novel: Gene SAA2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0	0.2849	0.0618	0	0.01	0.0023	27	15	35.71	18	17	48.57	NA	NA	NA
IGSF22	3	0	0	11	18741652	18741652	18698228	18698228	Splice_Site	SNP	T	A	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	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
IGSF22	3	0	0	11	18741652	18741652	18698228	18698228	Splice_Site	SNP	T	A	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
HTATIP2	1	0	0	11	20404541	20404541	20361117	20361117	Frame_Shift_Del	DEL	T	0	NM_001098520.1	p.D207fs	superfamily_NAD(P)-binding Rossmann-fold domains	0	0	0	Novel: Gene HTATIP2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	8	6	42.86	15	10	40	4	0	0
FANCF	1	X	0	11	22646872	22646873	22603448	22603449	Frame_Shift_Del	DEL	AG	0	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
BDNF	2	0	0	11	27695732	27695733	27652308	27652309	Frame_Shift_Del	DEL	AT	0	NM_001143810.1	p.C34fs	NULL	0	0	0	Novel: Gene BDNF in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	22	8	26.67	18	7	28	0	0	0
BDNF	2	0	0	11	27695732	27695733	27652308	27652309	Frame_Shift_Del	DEL	AT	0	NM_001143810.1	p.C34fs	NULL	0	0	0	Novel: Gene BDNF in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	37	21	35	46	18	28.12	0	0	0
WT1	1	X	0.065	11	32417947	32417948	32374523	32374524	Frame_Shift_Ins	INS	0	C	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
CD44	1	0	0	11	35229753	35229753	35186329	35186329	Nonsense_Mutation	SNP	C	T	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
ALKBH3	1	0	0	11	43913605	43913605	43870181	43870181	Nonsense_Mutation	SNP	C	T	NM_139178.3	p.Q129*	NULL	0	0	0	Novel: Gene ALKBH3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	23	32	58.18	36	32	46.38	NA	NA	NA
GYLTL1B	1	0	0	11	45948899	45948899	45905475	45905475	Nonsense_Mutation	SNP	G	A	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
LRP4	1	0	0.005	11	46916843	46916843	46873419	46873419	Splice_Site	SNP	C	T	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
FOLH1	1	0	0	11	49208294	49208294	49164870	49164870	Nonsense_Mutation	SNP	G	A	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
SPRYD5	2	0	0	11	55653316	55653316	55409892	55409892	Splice_Site	SNP	G	T	NM_032681.3	e1+1	0	rs187475456	by-1000genomes	"1000GENOMES,"	Novel: Gene SPRYD5 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0	3.2857	0.7138	0	0.03	0.01	124	91	42.33	49	33	40.24	0	0	0
SPRYD5	2	0	0	11	55653316	55653316	55409892	55409892	Splice_Site	SNP	G	T	NM_032681.3	e1+1	0	rs187475456	by-1000genomes	"1000GENOMES,"	Novel: Gene SPRYD5 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0	3.2857	0.7138	0	0.03	0.01	27	17	38.64	28	31	52.54	NA	NA	NA
LRRC55	1	0	0	11	56949447	56949448	56706023	56706024	Frame_Shift_Del	DEL	AC	0	NM_001005210.2	p.T28fs	NULL	0	0	0	Novel: Gene LRRC55 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	95	48	33.57	76	31	28.97	0	0	0
SMTNL1	1	0	0	11	57313797	57313797	57070373	57070373	Nonsense_Mutation	SNP	C	T	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
FAM111B	1	0	0	11	58893257	58893257	58649833	58649833	Nonsense_Mutation	SNP	C	T	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
FAM111A	1	0	0	11	58919922	58919923	58676498	58676499	Frame_Shift_Ins	INS	0	GCAGATACTT	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
SLC15A3	1	0	0	11	60705346	60705346	60461922	60461922	Frame_Shift_Del	DEL	G	0	NM_016582.2	p.F530fs	superfamily_MFS general substrate transporter	0	0	0	Novel: Gene SLC15A3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	7	4	36.36	21	8	27.59	0	0	0
FADS1	1	0	0	11	61572171	61572171	61328747	61328747	Nonsense_Mutation	SNP	G	A	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
BEST1	1	0	0	11	61730141	61730142	61486717	61486718	Frame_Shift_Del	DEL	GA	0	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
GANAB	1	0	0	11	62400190	62400191	62156766	62156767	Frame_Shift_Ins	INS	0	T	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
LGALS12	1	0	0	11	63279313	63279313	63035889	63035889	Splice_Site	SNP	G	A	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
POLA2	1	0	0.005	11	65046229	65046229	64802805	64802805	Nonsense_Mutation	SNP	C	T	NM_002689.2	p.R164*	HMMPfam_Pol_alpha_B_N	rs187158521	by-1000genomes	"1000GENOMES,"	Novel: Gene POLA2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0	0	0.0009	8	5	38.46	27	28	50	NA	NA	NA
PCNXL3	1	0	0	11	65396175	65396175	65152751	65152751	Splice_Site	SNP	G	A	NM_032223.2	e23+1	0	0	0	0	Novel: Gene PCNXL3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.0147	0	0.0099	NA	NA	NA	4	7	63.64	7	11	61.11	2	18	90
CCS	1	0	0	11	66367108	66367108	66123684	66123684	Splice_Site	SNP	G	T	NM_005125.1	e4+1	0	0	0	0	Novel: Gene CCS in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	30	24	44.44	18	18	50	2	10	76.92
MYEOV	1	0	0.005	11	69062884	69062884	68819460	68819460	Nonsense_Mutation	SNP	T	A	NM_138768.2	p.C21*	NULL	0	0	0	Novel: Gene MYEOV in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	23	23	50	4	9	69.23	NA	NA	NA
DHCR7	3	0	0	11	71146886	71146886	70824534	70824534	Splice_Site	SNP	C	G	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	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	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
LRTOMT	1	0	0	11	71807767	71807767	71485415	71485415	Splice_Site	SNP	A	C	NM_001145307.1	e4-2	0	rs188080974	by-1000genomes	"1000GENOMES,"	Novel: Gene LRTOMT in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	0.6714	0.2849	0.5875	0.004	0.002	0.0018	13	13	50	14	14	50	5	4	44.44
RELT	2	0	0	11	73101947	73101948	72779595	72779596	Frame_Shift_Del	DEL	TG	0	NM_032871.3	p.C90fs	HMMSmart_TNFR	0	0	0	Novel: Gene RELT in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	12	5	29.41	23	7	23.33	22	9	29.03
RELT	2	0	0	11	73106488	73106488	72784136	72784136	Splice_Site	SNP	G	A	NM_032871.3	e10-1	0	0	0	0	Novel: Gene RELT in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0	0	0.0005	30	24	43.64	35	33	48.53	7	40	85.11
XRRA1	1	0	0	11	74555222	74555223	74232870	74232871	Frame_Shift_Del	DEL	TT	0	NM_182969.1	p.K670fs	NULL	0	0	0	Novel: Gene XRRA1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	272	62	18.51	411	211	33.92	2	0	0
UVRAG	1	0	0	11	75727858	75727858	75405506	75405506	Splice_Site	SNP	G	T	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
INTS4	2	0	0	11	77602725	77602725	77280373	77280373	Splice_Site	SNP	A	T	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	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
CCDC81	1	0	0	11	86131067	86131067	85808715	85808715	Nonsense_Mutation	SNP	C	T	NM_021827.4	p.R507*	NULL	0	0	0	Novel: Gene CCDC81 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0	0	0.0005	29	40	57.97	41	32	43.84	0	0	0
NOX4	1	0	0	11	89185052	89185053	88824700	88824701	Frame_Shift_Del	DEL	AC	0	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
MRE11A	1	0	0.005	11	94219234	94219234	93858882	93858882	Nonsense_Mutation	SNP	A	C	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
ENDOD1	1	0	0	11	94862437	94862437	94502085	94502085	Nonsense_Mutation	SNP	G	A	NM_015036.2	p.W399*	NULL	0	0	0	Novel: Gene ENDOD1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	11	19	63.33	21	10	32.26	4	4	50
CNTN5	1	0	0.01	11	99690497	99690497	99195707	99195707	Splice_Site	SNP	G	A	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
TRPC6	1	0	0	11	101375222	101375222	100880432	100880432	Nonsense_Mutation	SNP	G	A	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
MMP10	1	0	0	11	102651290	102651291	102156500	102156501	Frame_Shift_Del	DEL	AC	0	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
KBTBD3	1	0	0	11	105929740	105929740	105434950	105434950	Frame_Shift_Del	DEL	G	0	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
AASDHPPT	1	0	0	11	105961404	105961404	105466614	105466614	Nonsense_Mutation	SNP	G	A	NM_015423.2	p.W177*	"HMMPfam_ACPS,superfamily_4-PPT_transf"	0	0	0	Novel: Gene AASDHPPT in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	55	40	42.11	60	59	49.17	9	4	30.77
CWF19L2	1	0	0	11	107224305	107224306	106729515	106729516	Frame_Shift_Ins	INS	0	A	NM_152434.2	p.Y677fs	HMMPfam_CwfJ_C_1	0	0	0	Novel: Gene CWF19L2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	142	77	52.74	166	71	41.76	4	0	0
ALKBH8	1	0	0	11	107393032	107393032	106898242	106898242	Nonsense_Mutation	SNP	A	T	NM_138775.2	p.L427*	"HMMPfam_Methyltransf_11,superfamily_S-adenosyl-L-methionine-dependent methyltransferases"	0	0	0	Novel: Gene ALKBH8 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	16	20	55.56	20	24	54.55	2	4	66.67
ATM	1	X	0	11	108202673	108202676	107707883	107707886	Frame_Shift_Del	DEL	CAAA	0	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
PPP2R1B	1	0	0	11	111631738	111631739	111136948	111136949	Frame_Shift_Del	DEL	AC	0	NM_181699.2	p.V115fs	"HMMPfam_HEAT,superfamily_ARM-type_fold"	0	0	0	Novel: Gene PPP2R1B in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	43	23	34.85	42	22	34.38	6	4	40
REXO2	1	0	0	11	114315262	114315262	113820472	113820472	Splice_Site	SNP	G	T	NM_015523.3	e4-1	0	0	0	0	Novel: Gene REXO2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	38	38	50	43	38	46.34	3	0	0
CEP164	2	0	0	11	117252486	117252487	116757696	116757697	Frame_Shift_Ins	INS	0	C	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	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
UPK2	1	0	0	11	118827691	118827692	118332901	118332902	Frame_Shift_Ins	INS	0	CACT	NM_006760.3	p.M61fs	HMMPfam_Uroplakin_II	0	0	0	Novel: Gene UPK2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	252	98	38.13	126	48	37.5	0	0	0
C2CD2L	1	0	0	11	118978465	118978465	118483675	118483675	Nonsense_Mutation	SNP	G	A	NM_014807.3	p.W5*	NULL	0	0	0	Novel: Gene C2CD2L in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	7	7	50	5	5	50	2	2	50
FLI1	1	X	0	11	128628223	128628223	128133433	128133433	Splice_Site	SNP	T	C	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
TP53AIP1	3	0	0	11	128807551	128807551	128312761	128312761	Nonsense_Mutation	SNP	G	A	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	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
TP53AIP1	3	0	0	11	128807650	128807651	128312860	128312861	Frame_Shift_Ins	INS	0	C	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
ADAMTS8	1	0	0	11	130284641	130284641	129789851	129789851	Nonsense_Mutation	SNP	G	A	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
NCAPD3	1	0	0	11	134037895	134037895	133543105	133543105	Nonsense_Mutation	SNP	G	C	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
GLB1L2	1	0	0	11	134226251	134226251	133731461	133731461	Nonsense_Mutation	SNP	T	A	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
SLC6A12	1	0	0	12	313761	313762	184022	184023	Frame_Shift_Del	DEL	TG	0	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
CCDC77	1	0	0	12	542445	542445	412706	412706	Nonsense_Mutation	SNP	C	T	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
DCP1B	2	0	0	12	2061584	2061584	1931845	1931845	Nonsense_Mutation	SNP	G	A	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	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
FOXM1	1	0	0	12	2977875	2977876	2848136	2848137	Frame_Shift_Del	DEL	AC	0	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
TULP3	1	0	0	12	3018723	3018723	2888984	2888984	Nonsense_Mutation	SNP	C	T	NM_003324.4	p.R24*	NULL	0	0	0	Novel: Gene TULP3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.0142	0.0268	0.0186	NA	NA	NA	129	106	44.92	146	115	44.06	0	3	100
AKAP3	1	0	0	12	4737937	4737937	4608198	4608198	Nonsense_Mutation	SNP	C	T	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
VWF	1	0	0	12	6167086	6167087	6037347	6037348	Frame_Shift_Ins	INS	0	A	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
SPSB2	1	0	0	12	6981526	6981526	6851787	6851787	Nonsense_Mutation	SNP	G	T	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
ACSM4	1	0	0	12	7459282	7459282	7350549	7350549	Frame_Shift_Del	DEL	G	0	NM_001080454.1	p.V119fs	"HMMPfam_AMP-binding,superfamily_SSF56801"	0	0	0	Novel: Gene ACSM4 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	29	14	32.56	43	19	30.65	0	0	0
CLEC4C	1	0	0	12	7883392	7883392	7774659	7774659	Splice_Site	SNP	C	T	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
ZNF705A	1	0	0	12	8329970	8329970	8221237	8221237	Nonsense_Mutation	SNP	C	T	NM_001004328.2	p.Q232*	"HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667"	0	0	0	Novel: Gene ZNF705A in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	127	69	35.2	123	78	38.81	0	0	0
FAM90A1	2	0	0.005	12	8377368	8377368	8268635	8268635	Frame_Shift_Del	DEL	G	0	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	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
A2ML1	3	0	0	12	8995925	8995926	8887192	8887193	Frame_Shift_Del	DEL	AG	0	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	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	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
A2M	2	0	0	12	9231868	9231868	9123135	9123135	Nonsense_Mutation	SNP	G	A	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	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
PZP	2	0	0.005	12	9304854	9304854	9196121	9196121	Frame_Shift_Del	DEL	C	0	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	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
CLEC1A	1	0	0	12	10233835	10233835	10125102	10125102	Splice_Site	SNP	C	A	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
PRH1	2	0	0	12	11035235	11035235	10926502	10926502	Nonsense_Mutation	SNP	G	A	NM_006250.2	p.Q55*	NULL	rs144818487	by-1000genomes	"1000GENOMES,"	Novel: Gene PRH1 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	0	1.0701	0.3718	0	0.01	0.0037	611	256	29.49	729	409	35.88	NA	NA	NA
PRH1	2	0	0	12	11035235	11035235	10926502	10926502	Nonsense_Mutation	SNP	G	A	NM_006250.2	p.Q55*	NULL	rs144818487	by-1000genomes	"1000GENOMES,"	Novel: Gene PRH1 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	0	1.0701	0.3718	0	0.01	0.0037	188	83	30.51	187	128	40.51	NA	NA	NA
PRB2	1	0	0	12	11547428	11547428	11438695	11438695	Splice_Site	SNP	C	T	NM_006248.3	e2+1	0	0	0	0	Novel: Gene PRB2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.0285	0	0.0186	NA	NA	NA	694	470	40.14	488	395	44.68	NA	NA	NA
ETV6	1	X	0.01	12	11992215	11992216	11883482	11883483	Frame_Shift_Ins	INS	0	TCCC	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
GPRC5A	1	0	0	12	13061365	13061365	12952632	12952632	Frame_Shift_Del	DEL	G	0	NM_003979.3	p.R61fs	HMMPfam_7tm_3	0	0	0	Novel: Gene GPRC5A in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	460	192	29	494	208	29.21	0	0	0
GUCY2C	1	0	0.005	12	14767879	14767879	14659146	14659146	Splice_Site	SNP	T	C	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
PIK3C2G	2	0	0	12	18715827	18715827	18607094	18607094	Splice_Site	SNP	G	A	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	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
SLCO1B3	3	0	0	12	21008080	21008081	20899347	20899348	Frame_Shift_Ins	INS	0	AATTG	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	21008080	21008081	20899347	20899348	Frame_Shift_Ins	INS	0	AATTG	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	21028294	21028297	20919561	20919564	Frame_Shift_Del	DEL	AAAC	0	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
PYROXD1	1	0	0	12	21614951	21614954	21506218	21506221	Frame_Shift_Del	DEL	CTGT	0	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
RECQL	1	0	0	12	21627911	21627911	21519178	21519178	Nonsense_Mutation	SNP	G	A	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
OVCH1	3	0	0	12	29598337	29598337	29489604	29489604	Splice_Site	SNP	C	T	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	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	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
DDX11	2	0	0.01	12	31255428	31255429	31146695	31146696	Frame_Shift_Ins	INS	0	T	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	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
DENND5B	1	0	0	12	31540665	31540665	31431932	31431932	Nonsense_Mutation	SNP	G	A	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
YARS2	1	0	0	12	32900293	32900293	32791560	32791560	Nonsense_Mutation	SNP	G	A	NM_001040436.1	p.R427*	superfamily_SSF55174	0	0	0	Novel: Gene YARS2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	41	46	52.87	63	45	41.67	NA	NA	NA
SLC2A13	1	0	0	12	40441856	40441856	38728123	38728123	Nonsense_Mutation	SNP	C	T	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
LRRK2	2	0	0	12	40645265	40645265	38931532	38931532	Splice_Site	SNP	A	G	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	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
IRAK4	1	0	0	12	44165982	44165982	42452249	42452249	Splice_Site	SNP	G	T	NM_001114182.2	e3-1	0	0	0	0	Novel: Gene IRAK4 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	14	13	48.15	26	20	43.48	0	6	100
LALBA	1	0	0	12	48962864	48962864	47249131	47249131	Splice_Site	SNP	C	T	NM_002289.2	e2+1	0	0	0	0	Novel: Gene LALBA in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	656	723	52.35	352	341	49.06	0	0	0
FKBP11	1	0	0.005	12	49315940	49315940	47602207	47602207	Nonsense_Mutation	SNP	G	A	NM_016594.2	p.R145*	superfamily_SSF54534	0	0	0	Novel: Gene FKBP11 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	50	26	34.21	56	61	52.14	NA	NA	NA
TMPRSS12	1	0	0	12	51236806	51236806	49523073	49523073	Nonsense_Mutation	SNP	C	G	NM_182559.2	p.S20*	NULL	0	0	0	Novel: Gene TMPRSS12 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	0.0299	0	0.02	NA	NA	NA	27	32	54.24	23	26	53.06	0	0	0
SLC4A8	1	0	0	12	51865074	51865075	50151341	50151342	Frame_Shift_Ins	INS	0	TATG	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
KRT80	1	0	0	12	52567383	52567383	50853650	50853650	Splice_Site	SNP	C	T	NM_182507.2	e5+1	0	0	0	0	Novel: Gene KRT80 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	10	9	47.37	11	9	45	0	0	0
KRT75	1	0	0.005	12	52826821	52826821	51113088	51113088	Splice_Site	SNP	C	T	NM_004693.2	e2+1	0	0	0	0	Novel: Gene KRT75 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	76	50	39.68	49	31	38.75	0	0	0
KRT3	1	0	0	12	53184658	53184658	51470925	51470925	Splice_Site	SNP	T	C	NM_057088.2	e8-2	0	0	0	0	Novel: Gene KRT3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	18	21	53.85	16	17	51.52	0	0	0
SPRYD3	1	0	0	12	53460126	53460129	51746393	51746396	Frame_Shift_Del	DEL	TCTA	0	NM_032840.2	p.I388fs	HMMSmart_SM00449	0	0	0	Novel: Gene SPRYD3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	98	18	15.52	90	26	22.41	NA	NA	NA
SOAT2	3	0	0	12	53497445	53497445	51783712	51783712	Splice_Site	SNP	T	A	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	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	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
ESPL1	1	0	0	12	53675412	53675412	51961679	51961679	Splice_Site	SNP	T	C	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
AAAS	1	0	0	12	53702529	53702530	51988796	51988797	Frame_Shift_Del	DEL	AG	0	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
SP7	1	0	0	12	53723090	53723091	52009357	52009358	Frame_Shift_Del	DEL	TC	0	NM_152860.1	p.K46fs	NULL	0	0	0	Novel: Gene SP7 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	30	17	36.17	34	13	27.66	0	0	0
CALCOCO1	1	0	0	12	54118432	54118432	52404699	52404699	Nonsense_Mutation	SNP	G	A	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
MYO1A	1	0	0	12	57423265	57423265	55709532	55709532	Nonsense_Mutation	SNP	G	C	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
STAC3	1	0	0	12	57642881	57642882	55929148	55929149	Frame_Shift_Del	DEL	TG	0	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
MARS	1	0	0	12	57908840	57908843	56195107	56195110	Frame_Shift_Del	DEL	AGGT	0	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
RAB3IP	1	0	0	12	70133631	70133640	68419898	68419907	Frame_Shift_Del	DEL	GATTAAAAAA	0	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
CAPS2	2	0	0	12	75687045	75687046	73973312	73973313	Frame_Shift_Ins	INS	0	TATTTGAT	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	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
CEP290	1	0	0.005	12	88471040	88471040	86995171	86995171	Nonsense_Mutation	SNP	C	A	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
GALNT4	1	0	0	12	89917761	89917762	88441892	88441893	Frame_Shift_Ins	INS	0	A	NM_003774.3	p.Y189fs	"HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases"	0	0	0	Novel: Gene GALNT4 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	39	16	41.03	89	35	38.46	10	0	0
EPYC	1	0	0	12	91363838	91363838	89887969	89887969	Nonsense_Mutation	SNP	G	A	NM_004950.4	p.R261*	"HMMSmart_SM00369,superfamily_L domain-like"	0	0	0	Novel: Gene EPYC 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	587	574	49.31	312	267	46.03	0	0	0
CLLU1	1	0	0	12	92818668	92818668	91342799	91342799	Frame_Shift_Del	DEL	T	0	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
CCDC38	1	0	0	12	96272045	96272045	94796176	94796176	Frame_Shift_Del	DEL	C	0	NM_182496.2	p.E408fs	NULL	0	0	0	Novel: Gene CCDC38 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	239	109	31.32	297	125	29.62	NA	NA	NA
HAL	1	0	0	12	96379924	96379924	94904055	94904055	Nonsense_Mutation	SNP	G	A	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
UHRF1BP1L	1	0	0	12	100433569	100433569	98957700	98957700	Splice_Site	SNP	T	C	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
ANO4	1	0	0	12	101490361	101490364	100014492	100014495	Frame_Shift_Del	DEL	ATGT	0	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
SPIC	1	0	0	12	101880417	101880417	100404548	100404548	Frame_Shift_Del	DEL	T	0	NM_152323.1	p.F206fs	NULL	0	0	0	Novel: Gene SPIC in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	255	117	31.12	282	116	28.93	0	0	0
STAB2	1	0	0	12	104149389	104149389	102673519	102673519	Splice_Site	SNP	G	A	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
APPL2	1	0	0	12	105591666	105591667	104115796	104115797	Frame_Shift_Del	DEL	AT	0	NM_018171.3	p.M310fs	"HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729"	0	0	0	Novel: Gene APPL2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	15	8	34.78	34	11	23.91	2	1	33.33
PWP1	1	0	0	12	108086676	108086679	106610806	106610809	Frame_Shift_Del	DEL	AGTA	0	NM_007062.1	p.E136fs	superfamily_WD40 repeat-like	0	0	0	Novel: Gene PWP1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	110	28	20.14	155	46	22.89	8	0	0
ACAD10	1	0	0	12	112182548	112182549	110666931	110666932	Frame_Shift_Del	DEL	AA	0	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
OAS2	3	0	0	12	113435561	113435561	111919944	111919944	Splice_Site	SNP	G	A	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	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	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
IQCD	1	0	0	12	113633458	113633459	112117841	112117842	Frame_Shift_Ins	INS	0	T	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
SLC24A6	1	0	0	12	113758493	113758493	112242876	112242876	Splice_Site	SNP	T	C	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
SDS	1	0	0	12	113830859	113830859	112315242	112315242	Nonsense_Mutation	SNP	G	A	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
SDSL	4	0	0	12	113874568	113874568	112358951	112358951	Frame_Shift_Del	DEL	C	0	NM_138432.2	p.L229fs	"HMMPfam_PALP,superfamily_PyrdxlP-dep_enz_bsu"	0	0	0	Novel: Gene SDSL in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	15	11	42.31	18	6	25	9	0	0
SDSL	4	0	0	12	113874568	113874568	112358951	112358951	Frame_Shift_Del	DEL	C	0	NM_138432.2	p.L229fs	"HMMPfam_PALP,superfamily_PyrdxlP-dep_enz_bsu"	0	0	0	Novel: Gene SDSL in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	102	39	26.71	148	68	30.49	5	0	0
SDSL	4	0	0	12	113874568	113874568	112358951	112358951	Frame_Shift_Del	DEL	C	0	NM_138432.2	p.L229fs	"HMMPfam_PALP,superfamily_PyrdxlP-dep_enz_bsu"	0	0	0	Novel: Gene SDSL in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	27	15	34.88	9	4	30.77	1	0	0
SDSL	4	0	0	12	113874568	113874568	112358951	112358951	Frame_Shift_Del	DEL	C	0	NM_138432.2	p.L229fs	"HMMPfam_PALP,superfamily_PyrdxlP-dep_enz_bsu"	0	0	0	Novel: Gene SDSL in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	11	8	42.11	14	7	33.33	4	0	0
FBXW8	1	0	0	12	117448196	117448197	115932579	115932580	Frame_Shift_Del	DEL	GT	0	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
CCDC60	1	0	0.005	12	119909960	119909960	118394343	118394343	Frame_Shift_Del	DEL	C	0	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
OASL	1	0	0	12	121458855	121458855	119943238	119943238	Nonsense_Mutation	SNP	G	A	NM_003733.2	p.R352*	HMMPfam_OAS1_C	0	0	0	Novel: Gene OASL in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	97	103	51.5	88	90	50.56	2	9	81.82
P2RX4	1	0	0	12	121670896	121670896	120155279	120155279	Splice_Site	SNP	G	A	NM_002560.2	e11+1	0	0	0	0	Novel: Gene P2RX4 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	20	14	41.18	19	22	52.38	9	5	35.71
MORN3	1	0	0	12	122091149	122091149	120575532	120575532	Nonsense_Mutation	SNP	G	T	NM_173855.4	p.Y160*	"HMMPfam_MORN,HMMSmart_SM00698,superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain"	rs180768193	by-1000genomes	"1000GENOMES,"	Novel: Gene MORN3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0	0	0.0014	299	206	40.79	67	54	44.63	1	0	0
WDR66	1	0	0	12	122359545	122359546	120843928	120843929	Frame_Shift_Del	DEL	AC	0	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
IL31	1	0	0	12	122657037	122657040	121222990	121222993	Frame_Shift_Del	DEL	AGTC	0	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
LRRC43	1	0	0.005	12	122670792	122670792	121236745	121236745	Frame_Shift_Del	DEL	T	0	NM_001098519.1	p.L156fs	superfamily_Outer arm dynein light chain 1	0	0	0	Novel: Gene LRRC43 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	52	22	28.57	56	24	29.63	0	0	0
CLIP1	1	0	0	12	122821260	122821261	121387213	121387214	Frame_Shift_Del	DEL	CT	0	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
GPR109B	1	0	0	12	123201013	123201013	121766966	121766966	Frame_Shift_Del	DEL	G	0	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
ATP6V0A2	1	0	0	12	124242472	124242472	122808425	122808425	Splice_Site	SNP	A	G	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
TMEM132B	1	0	0	12	125834489	125834490	124400442	124400443	Frame_Shift_Ins	INS	0	TGTG	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
PIWIL1	1	0	0	12	130841461	130841461	129407414	129407414	Splice_Site	SNP	A	G	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
PXMP2	1	0	0	12	133272634	133272634	131782707	131782707	Splice_Site	SNP	T	C	NM_018663.1	e3+2	0	0	0	0	Novel: Gene PXMP2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	15	18	54.55	28	25	45.45	1	0	0
PGAM5	1	0	0	12	133294639	133294640	131804712	131804713	Frame_Shift_Ins	INS	0	G	NM_138575.3	p.Q219fs	"HMMPfam_PGAM,superfamily_Phosphoglycerate mutase-like"	0	0	0	Novel: Gene PGAM5 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	20	13	65	16	5	31.25	4	2	50
ZNF268	1	0	0	12	133779602	133779603	Unmapped	Unmapped	Frame_Shift_Ins	INS	0	A	NM_003415.2	p.Y444fs	"HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers"	0	0	0	Novel: Gene ZNF268 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	18	6	33.33	10	5	50	24	14	53.85
TPTE2	1	0	0.005	13	20048139	20048139	18946139	18946139	Frame_Shift_Del	DEL	A	0	NM_199254.2	p.Y103fs	superfamily_Voltage-gated potassium channels	0	0	0	Novel: Gene TPTE2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	79	44	35.48	91	38	29.23	0	0	0
SAP18	2	0	0	13	21714738	21714738	20612738	20612738	Frame_Shift_Del	DEL	G	0	NM_005870.4	p.R16fs	NULL	0	0	0	Novel: Gene SAP18 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	29	12	29.27	26	0	0	57	0	0
SAP18	2	0	0	13	21714738	21714738	20612738	20612738	Frame_Shift_Del	DEL	G	0	NM_005870.4	p.R16fs	NULL	0	0	0	Novel: Gene SAP18 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	20	9	31.03	23	11	32.35	114	56	32.75
PABPC3	1	0	0.005	13	25671814	25671814	24569814	24569814	Frame_Shift_Del	DEL	C	0	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
SLC46A3	1	0	0	13	29287147	29287147	28185147	28185147	Nonsense_Mutation	SNP	G	A	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
KIAA0564	2	0	0	13	42335286	42335286	41233286	41233286	Nonsense_Mutation	SNP	G	A	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	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
EPSTI1	1	0	0	13	43566136	43566137	42464136	42464137	Frame_Shift_Ins	INS	0	G	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
TRIM13	1	0	0	13	50586871	50586872	49484872	49484873	Frame_Shift_Ins	INS	0	C	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
FAM124A	1	0	0	13	51826178	51826179	50724179	50724180	Frame_Shift_Ins	INS	0	CC	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
THSD1	1	0	0	13	52971367	52971367	51869368	51869368	Nonsense_Mutation	SNP	C	A	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
HNRNPA1L2	2	0	0	13	53216702	53216702	52114703	52114703	Frame_Shift_Del	DEL	A	0	NM_001011724.1	p.T26fs	"HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928"	0	0	0	Novel: Gene HNRNPA1L2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	25	14	35	25	11	30.56	NA	NA	NA
HNRNPA1L2	2	0	0	13	53217280	53217280	52115281	52115281	Frame_Shift_Del	DEL	G	0	NM_001011724.1	p.R218fs	superfamily_SSF54928	0	0	0	Novel: Gene HNRNPA1L2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0.01	0	0.0023	88	36	28.8	87	39	30.47	7	0	0
PCDH17	1	0	0	13	58299188	58299188	57197189	57197189	Frame_Shift_Del	DEL	A	0	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
DIAPH3	1	0	0	13	60453424	60453424	59351425	59351425	Frame_Shift_Del	DEL	T	0	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
DIS3	1	0	0.015	13	73355096	73355096	72253097	72253097	Nonsense_Mutation	SNP	G	A	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
LMO7	2	0	0	13	76335140	76335152	75233141	75233153	Frame_Shift_Del	DEL	GATCTACAGGATT	0	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	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
SCEL	1	0	0.005	13	78208513	78208513	77106514	77106514	Splice_Site	SNP	G	T	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
ABCC4	1	0	0	13	95768242	95768243	94566243	94566244	Frame_Shift_Ins	INS	0	T	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
UGGT2	1	0	0	13	96555161	96555161	95353162	95353162	Nonsense_Mutation	SNP	C	A	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
NALCN	1	0	0.01	13	101828705	101828708	100626706	100626709	Frame_Shift_Del	DEL	AACA	0	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
DAOA	1	0	0.005	13	106119492	106119492	104917493	104917493	Splice_Site	SNP	T	A	NM_172370.3	e2+2	0	rs148297571	by-1000genomes	"1000GENOMES,"	Novel: Gene DAOA in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0	2.6042	0.7977	0	0.02	0.01	8	13	61.9	13	13	50	NA	NA	NA
MYO16	1	0	0.005	13	109496797	109496798	108294798	108294799	Frame_Shift_Ins	INS	0	T	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
PCID2	1	0	0	13	113849402	113849402	112897403	112897403	Nonsense_Mutation	SNP	G	A	NM_001127202.1	p.R116*	NULL	0	0	0	Novel: Gene PCID2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	49	45	47.87	33	28	45.9	23	11	32.35
PARP2	1	0	0.005	14	20820484	20820485	19890324	19890325	Frame_Shift_Ins	INS	0	G	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
ABHD4	1	0	0	14	23075366	23075366	22145206	22145206	Frame_Shift_Del	DEL	C	0	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
LRP10	1	0	0	14	23344935	23344935	22414775	22414775	Nonsense_Mutation	SNP	C	T	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
REM2	1	0	0	14	23355311	23355311	22425151	22425151	Nonsense_Mutation	SNP	C	T	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
PSMB11	2	0	0	14	23511670	23511670	22581510	22581510	Frame_Shift_Del	DEL	C	0	NM_001099780.1	p.S80fs	"HMMPfam_Proteasome,PatternScan_PROTEASOME_B,superfamily_SSF56235"	0	0	0	Novel: Gene PSMB11 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	70	35	32.71	18	6	25	0	0	0
PSMB11	2	0	0	14	23511670	23511670	22581510	22581510	Frame_Shift_Del	DEL	C	0	NM_001099780.1	p.S80fs	"HMMPfam_Proteasome,PatternScan_PROTEASOME_B,superfamily_SSF56235"	0	0	0	Novel: Gene PSMB11 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	82	34	28.1	61	30	32.26	0	0	0
CMTM5	1	0	0	14	23847690	23847690	22917530	22917530	Nonsense_Mutation	SNP	C	T	NM_138460.2	p.R87*	HMMPfam_MARVEL	0	0	0	Novel: Gene CMTM5 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	86	54	38.57	134	90	40.18	0	0	0
LRRC16B	1	0	0	14	24525838	24525839	23595678	23595679	Frame_Shift_Del	DEL	CA	0	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
PCK2	1	0	0	14	24568300	24568301	23638140	23638141	Frame_Shift_Ins	INS	0	A	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
DCAF11	1	0	0	14	24588767	24588767	23658607	23658607	Splice_Site	SNP	G	A	NM_025230.4	e9-1	0	0	0	0	Novel: Gene DCAF11 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	140	106	43.09	102	97	48.74	19	6	24
RNF31	1	0	0	14	24619996	24619996	23689836	23689836	Nonsense_Mutation	SNP	C	T	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
IPO4	1	0	0	14	24650824	24650824	23720664	23720664	Splice_Site	SNP	C	G	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
CHMP4A	1	0	0	14	24682614	24682614	23752454	23752454	Splice_Site	SNP	C	G	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
CTSG	1	0	0.005	14	25043683	25043683	24113523	24113523	Frame_Shift_Del	DEL	T	0	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
GZMB	1	0	0.005	14	25100360	25100360	24170200	24170200	Nonsense_Mutation	SNP	G	A	NM_004131.4	p.R221*	"HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases"	0	0	0	Novel: Gene GZMB in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	57	56	49.56	78	77	49.68	0	2	100
EAPP	1	0	0	14	34993976	34993976	34063727	34063727	Nonsense_Mutation	SNP	G	A	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
RPL36AL	1	0	0	14	50085720	50085723	49155470	49155473	Frame_Shift_Del	DEL	CATA	0	NM_001001.3	p.Y34fs	"HMMPfam_Ribosomal_L44,superfamily_Ribosomal_zn-bd"	0	0	0	Novel: Gene RPL36AL in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	106	44	29.14	138	60	30	284	0	0
POLE2	1	0	0.005	14	50117073	50117074	49186823	49186824	Frame_Shift_Ins	INS	0	A	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
NIN	1	X	0.005	14	51224647	51224648	50294397	50294398	Frame_Shift_Del	DEL	CT	0	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
PYGL	1	0	0	14	51379746	51379746	50449496	50449496	Splice_Site	SNP	C	T	NM_002863.4	e13+1	0	rs113993981	unknown	"GENEREVIEWS,"	Novel: Gene PYGL in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	40	37	48.05	55	46	45.54	8	8	50
KIAA0586	4	0	0	14	58899157	58899157	57968910	57968910	Frame_Shift_Del	DEL	G	0	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	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	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	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
DACT1	1	0	0	14	59111974	59111974	58181727	58181727	Splice_Site	SNP	A	C	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
PLEK2	1	0	0	14	67857456	67857457	66927209	66927210	Frame_Shift_Del	DEL	TT	0	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
PLEKHH1	1	0	0.01	14	68048914	68048914	67118667	67118667	Frame_Shift_Del	DEL	C	0	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
ZFYVE26	1	0	0	14	68220786	68220786	67290539	67290539	Splice_Site	SNP	A	G	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
PCNX	1	0	0	14	71413797	71413797	70483550	70483550	Nonsense_Mutation	SNP	C	T	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
ACOT4	1	0	0	14	74062288	74062288	73132041	73132041	Nonsense_Mutation	SNP	G	A	NM_152331.3	p.W399*	"HMMPfam_BAAT_C,superfamily_SSF53474"	0	0	0	Novel: Gene ACOT4 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	64	74	53.62	52	70	57.38	0	2	100
ACOT6	1	0	0	14	74086257	74086257	73156010	73156010	Frame_Shift_Del	DEL	A	0	NM_001037162.1	p.S114fs	"HMMPfam_BAAT_C,superfamily_SSF53474"	0	0	0	Novel: Gene ACOT6 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	25	13	34.21	41	18	30.51	0	0	0
PNMA1	1	0	0	14	74179783	74179784	73249536	73249537	Frame_Shift_Ins	INS	0	C	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
NEK9	1	0	0	14	75590928	75590928	74660681	74660681	Splice_Site	SNP	T	C	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
TTLL5	1	0	0.005	14	76238192	76238193	75307945	75307946	Frame_Shift_Ins	INS	0	AGAT	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
KIAA1737	1	0	0	14	77580586	77580587	76650339	76650340	Frame_Shift_Ins	INS	0	C	NM_033426.2	p.Q375fs	NULL	0	0	0	Novel: Gene KIAA1737 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	76	32	40.51	47	22	45.83	9	3	33.33
POMT2	1	0	0	14	77751386	77751386	76821139	76821139	Splice_Site	SNP	T	C	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
ALKBH1	1	0	0	14	78170711	78170711	77240464	77240464	Splice_Site	SNP	C	T	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
GALC	1	0	0	14	88450737	88450737	87520490	87520490	Splice_Site	SNP	C	T	NM_000153.2	e5+1	0	0	0	0	Novel: Gene GALC in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	25	23	47.92	20	20	50	0	6	100
EML5	1	0	0	14	89171230	89171231	88240983	88240984	Frame_Shift_Ins	INS	0	T	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
TRIP11	1	X	0	14	92471763	92471763	91541516	91541516	Nonsense_Mutation	SNP	G	A	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
MOAP1	1	0	0	14	93650163	93650163	92719916	92719916	Nonsense_Mutation	SNP	C	T	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
SERPINA9	4	0	0.005	14	94931042	94931042	94000795	94000795	Splice_Site	SNP	A	G	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	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	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	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
BDKRB1	1	0	0	14	96730906	96730906	95800659	95800659	Nonsense_Mutation	SNP	T	A	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
MEG8	1	0	0	14	101365423	101365423	100435176	100435176	Splice_Site	SNP	G	A	NR_024149.1	NULL	0	0	0	0	Novel: Gene MEG8 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	15	6	28.57	15	15	50	0	0	0
BAG5	1	0	0	14	104028296	104028296	103098049	103098049	Nonsense_Mutation	SNP	G	A	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
ADSSL1	1	0	0	14	105208340	105208340	104279385	104279385	Splice_Site	SNP	G	A	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
BTBD6	1	0	0	14	105716131	105716131	104787176	104787176	Nonsense_Mutation	SNP	C	T	NM_033271.2	p.Q119*	NULL	0	0	0	Novel: Gene BTBD6 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	9	18	66.67	19	14	42.42	10	6	37.5
TUBGCP5	1	0	0	15	22868961	22868961	20420402	20420402	Nonsense_Mutation	SNP	G	T	NM_001102610.1	p.E945*	NULL	0	0	0	Novel: Gene TUBGCP5 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	23	29	55.77	36	35	49.3	9	8	47.06
MTMR15	1	0	0	15	31217417	31217417	29004709	29004709	Nonsense_Mutation	SNP	C	T	NM_014967.4	p.R754*	NULL	0	0	0	Novel: Gene MTMR15 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	41	26	38.81	37	22	36.07	4	10	71.43
TRPM1	1	0	0	15	31318378	31318378	29105670	29105670	Nonsense_Mutation	SNP	G	T	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
ZFYVE19	1	0	0	15	41106246	41106247	38893538	38893539	Frame_Shift_Del	DEL	CT	0	NM_001077268.1	p.F440fs	NULL	0	0	0	Novel: Gene ZFYVE19 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	25	10	28.57	16	12	40	8	0	0
LTK	1	0	0	15	41799440	41799441	39586732	39586733	Frame_Shift_Del	DEL	GG	0	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
JMJD7-PLA2G4B	1	0	0	15	42138865	42138865	39926157	39926157	Splice_Site	SNP	A	G	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
SPTBN5	2	0	0.005	15	42147862	42147862	39935154	39935154	Nonsense_Mutation	SNP	G	A	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	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
PLA2G4F	1	0	0	15	42438009	42438009	40225301	40225301	Nonsense_Mutation	SNP	G	A	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
CAPN3	1	0	0	15	42702805	42702806	40490097	40490098	Frame_Shift_Del	DEL	AC	0	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
CDAN1	1	0	0	15	43028095	43028095	40815387	40815387	Nonsense_Mutation	SNP	G	A	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
TMEM62	1	0	0	15	43461850	43461851	41249142	41249143	Frame_Shift_Ins	INS	0	T	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
STRC	1	0	0.005	15	43902548	43902548	41689840	41689840	Nonsense_Mutation	SNP	G	A	NM_153700.2	p.R1154*	NULL	0	0	0	Novel: Gene STRC in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	37	8	17.78	48	9	15.52	NA	NA	NA
DUOX2	1	0	0	15	45393426	45393429	43180718	43180721	Frame_Shift_Del	DEL	GAAC	0	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
CEP152	1	0	0	15	49083574	49083574	46870866	46870866	Splice_Site	SNP	C	G	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
USP50	2	0	0	15	50836870	50836870	48624162	48624162	Nonsense_Mutation	SNP	G	T	NM_203494.4	p.C54*	"HMMPfam_UCH,PatternScan_UCH_2_1,superfamily_SSF54001"	rs61761598	unknown	"CANCER-GENOME,"	Novel: Gene USP50 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.0293	0	0.0195	NA	NA	NA	53	60	52.63	33	26	42.62	0	0	0
USP50	2	0	0	15	50836870	50836870	48624162	48624162	Nonsense_Mutation	SNP	G	T	NM_203494.4	p.C54*	"HMMPfam_UCH,PatternScan_UCH_2_1,superfamily_SSF54001"	rs61761598	unknown	"CANCER-GENOME,"	Novel: Gene USP50 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.0293	0	0.0195	NA	NA	NA	71	57	44.53	42	72	62.61	2	3	60
PIGB	1	0	0	15	55611539	55611539	53398831	53398831	Nonsense_Mutation	SNP	A	T	NM_004855.4	p.K31*	NULL	0	0	0	Novel: Gene PIGB in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	4	5	55.56	3	5	62.5	NA	NA	NA
MNS1	1	0	0	15	56721382	56721382	54508674	54508674	Nonsense_Mutation	SNP	T	A	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
PIF1	1	0	0	15	65112163	65112163	62899216	62899216	Nonsense_Mutation	SNP	G	A	NM_025049.2	p.Q406*	superfamily_P-loop containing nucleoside triphosphate hydrolases	0	0	0	Novel: Gene PIF1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	97	93	48.95	130	122	48.41	10	3	23.08
SPG21	1	0	0	15	65266938	65266938	63053991	63053991	Splice_Site	SNP	A	G	NM_001127889.1	e4+2	0	0	0	0	Novel: Gene SPG21 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	20	19	48.72	18	18	50	10	4	28.57
PDCD7	1	0	0	15	65421505	65421505	63208558	63208558	Nonsense_Mutation	SNP	G	A	NM_005707.1	p.Q292*	NULL	0	0	0	Novel: Gene PDCD7 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	298	269	47.36	163	134	45.12	11	4	26.67
MEGF11	1	0	0.005	15	66206096	66206096	63993150	63993150	Frame_Shift_Del	DEL	T	0	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
GRAMD2	1	0	0	15	72455986	72455989	70243040	70243043	Frame_Shift_Del	DEL	CTGT	0	NM_001012642.2	p.D237fs	NULL	0	0	0	Novel: Gene GRAMD2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	45	15	24.59	18	11	37.93	0	0	0
HEXA	1	0	0	15	72638920	72638921	70425974	70425975	Frame_Shift_Ins	INS	0	GATA	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
PML	1	X	0	15	74336839	74336839	72123892	72123892	Frame_Shift_Del	DEL	C	0	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
STRA6	1	0	0	15	74472561	74472562	72259614	72259615	Frame_Shift_Ins	INS	0	CTTT	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
CCDC33	1	0	0.005	15	74560733	74560733	72347786	72347786	Nonsense_Mutation	SNP	C	A	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
LMAN1L	2	0	0	15	75105292	75105298	72892345	72892351	Frame_Shift_Del	DEL	TTTGAGT	0	NM_021819.2	p.F33fs	"HMMPfam_Lectin_leg-like,superfamily_Concanavalin A-like lectins/glucanases"	0	0	0	Novel: Gene LMAN1L in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	200	66	24.72	33	5	13.16	NA	NA	NA
LMAN1L	2	0	0	15	75116719	75116719	72903772	72903772	Frame_Shift_Del	DEL	C	0	NM_021819.2	p.P451fs	NULL	0	0	0	Novel: Gene LMAN1L in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	15	5	25	17	8	29.63	0	0	0
GOLGA6D	1	0	0	15	75585422	75585422	73372475	73372475	Nonsense_Mutation	SNP	G	T	NM_001145224.1	p.G504*	NULL	0	0	0	Novel: Gene GOLGA6D not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	15	5	25	12	2	14.29	0	0	0
NEIL1	2	0	0	15	75641315	75641316	73428368	73428369	Frame_Shift_Ins	INS	0	GGCA	NM_024608.2	p.G24fs	superfamily_N-terminal domain of MutM-like DNA repair proteins	0	0	0	Novel: Gene NEIL1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	70	21	29.17	85	23	25.56	2	0	0
NEIL1	2	0	0	15	75641315	75641316	73428368	73428369	Frame_Shift_Ins	INS	0	GGCA	NM_024608.2	p.G24fs	superfamily_N-terminal domain of MutM-like DNA repair proteins	0	0	0	Novel: Gene NEIL1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	158	30	18.63	90	27	29.67	0	0	0
ST20	1	0	0	15	80191446	80191447	77978501	77978502	Frame_Shift_Ins	INS	0	A	NM_001100879.1	p.L22fs	NULL	0	0	0	Novel: Gene ST20 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	21	8	36.36	19	8	42.11	4	0	0
TMC3	1	0	0	15	81627314	81627314	79414369	79414369	Nonsense_Mutation	SNP	G	A	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
FAM154B	3	0	0.01	15	82574734	82574735	80361789	80361790	Frame_Shift_Del	DEL	AC	0	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	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	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
ADAMTSL3	1	0	0	15	84582037	84582037	82373041	82373041	Nonsense_Mutation	SNP	C	T	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
KIF7	1	0	0	15	90189259	90189259	87990263	87990263	Splice_Site	SNP	T	C	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
MAN2A2	1	0	0	15	91454649	91454649	89255653	89255653	Nonsense_Mutation	SNP	C	T	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
PGPEP1L	2	0	0	15	99511760	99511760	97329283	97329283	Frame_Shift_Del	DEL	T	0	NM_001102612.2	p.R180fs	superfamily_Pyrrolidone carboxyl peptidase (pyroglutamate aminopeptidase)	0	0	0	Novel: Gene PGPEP1L not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	107	52	32.3	62	27	29.67	0	0	0
PGPEP1L	2	0	0	15	99511760	99511760	97329283	97329283	Frame_Shift_Del	DEL	T	0	NM_001102612.2	p.R180fs	superfamily_Pyrrolidone carboxyl peptidase (pyroglutamate aminopeptidase)	0	0	0	Novel: Gene PGPEP1L not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	70	30	30	49	21	30	0	0	0
LINS1	1	0	0	15	101109637	101109638	98927160	98927161	Frame_Shift_Ins	INS	0	A	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
TARSL2	1	0	0	15	102211945	102211945	100029468	100029468	Nonsense_Mutation	SNP	G	A	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
RPUSD1	1	0	0	16	837600	837600	777601	777601	Nonsense_Mutation	SNP	G	C	NM_058192.2	p.Y46*	"HMMPfam_PseudoU_synth_2,superfamily_PsdUridine_synth_cat_dom"	0	0	0	Novel: Gene RPUSD1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.0428	0	0.0279	NA	NA	NA	9	7	43.75	6	10	62.5	15	20	57.14
C1QTNF8	1	0	0	16	1143547	1143548	1083548	1083549	Frame_Shift_Ins	INS	0	AG	NM_207419.3	p.Y238fs	"HMMPfam_C1q,HMMSmart_SM00110,superfamily_TNF-like"	0	0	0	Novel: Gene C1QTNF8 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0	0.04	0.01	10	4	40	11	4	33.33	0	0	0
IFT140	1	0	0	16	1636277	1636277	1576278	1576278	Splice_Site	SNP	C	T	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
TRAP1	3	0	0	16	3712124	3712124	3652125	3652125	Nonsense_Mutation	SNP	G	A	NM_016292.2	p.R602*	"HMMPfam_HSP90,superfamily_SSF110942"	0	0	0	Novel: Gene TRAP1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	15	2	11.76	8	12	57.14	101	43	29.86
TRAP1	3	0	0	16	3712124	3712124	3652125	3652125	Nonsense_Mutation	SNP	G	A	NM_016292.2	p.R602*	"HMMPfam_HSP90,superfamily_SSF110942"	0	0	0	Novel: Gene TRAP1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	23	15	39.47	16	22	57.89	NA	NA	NA
TRAP1	3	0	0	16	3727635	3727635	3667636	3667636	Nonsense_Mutation	SNP	G	A	NM_016292.2	p.Q190*	"HMMPfam_HATPase_c,HMMSmart_HATPase_c,superfamily_ATP_bd_ATPase"	0	0	0	Novel: Gene TRAP1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	31	27	45.76	22	39	63.93	21	14	40
ALG1	1	0	0	16	5128757	5128757	5068758	5068758	Splice_Site	SNP	G	T	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
CIITA	2	X	0	16	10989286	10989286	10896787	10896787	Splice_Site	SNP	G	A	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	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
RUNDC2A	1	0	0	16	12093153	12093153	12000654	12000654	Splice_Site	SNP	G	C	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
NOMO3	1	0	0	16	16357477	16357477	16264978	16264978	Frame_Shift_Del	DEL	A	0	NM_001004067.2	p.N549fs	superfamily_Starch-binding domain-like	0	0	0	Novel: Gene NOMO3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	38	17	30.91	127	57	30.98	16	0	0
NOMO2	2	0	0.005	16	18550190	18550190	18457691	18457691	Nonsense_Mutation	SNP	G	A	NM_001004060.1	p.Q354*	superfamily_Starch-binding domain-like	0	0	0	Novel: Gene NOMO2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	11	6	35.29	15	4	20	42	2	4.44
NOMO2	2	0	0.005	16	18558589	18558589	18466090	18466090	Nonsense_Mutation	SNP	A	C	NM_001004060.1	p.Y181*	"HMMPfam_Cna_B,superfamily_Starch-binding domain-like"	0	0	0	Novel: Gene NOMO2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	10	15	60	9	8	47.06	33	0	0
UMOD	1	0	0	16	20359563	20359563	20267064	20267064	Nonsense_Mutation	SNP	G	A	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
DNAH3	3	0	0.005	16	20948135	20948135	20855636	20855636	Nonsense_Mutation	SNP	G	A	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	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	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
VWA3A	1	0	0	16	22108891	22108891	22016392	22016392	Splice_Site	SNP	A	G	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
EEF2K	1	0	0	16	22262013	22262013	22169514	22169514	Splice_Site	SNP	G	C	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
GGA2	1	0	0	16	23497419	23497419	23404920	23404920	Nonsense_Mutation	SNP	G	A	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
LCMT1	1	0	0	16	25123204	25123205	25030705	25030706	Frame_Shift_Ins	INS	0	A	NM_016309.2	p.M0fs	NULL	0	0	0	Novel: Gene LCMT1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	49	17	32.08	47	17	32.69	0	0	0
KIAA0556	1	0	0	16	27709663	27709663	27617164	27617164	Nonsense_Mutation	SNP	C	T	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
EIF3C	1	0	0	16	28738494	28738494	28645995	28645995	Nonsense_Mutation	SNP	G	A	NM_001037808.1	p.W582*	HMMPfam_eIF-3c_N	0	0	0	Novel: Gene EIF3C in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	5	8	61.54	0	0	0	77	16	17.2
KIF22	1	0	0	16	29802111	29802111	29709612	29709612	Frame_Shift_Del	DEL	C	0	NM_007317.1	p.R11fs	NULL	0	0	0	Novel: Gene KIF22 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	15	5	25	10	6	37.5	1	0	0
MAPK3	1	0	0	16	30128550	30128550	30036051	30036051	Nonsense_Mutation	SNP	G	A	NM_002746.2	p.R278*	"HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase"	0	0	0	Novel: Gene MAPK3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	27	29	51.79	45	46	50.55	129	17	11.64
ZNF48	1	0	0	16	30410255	30410256	30317756	30317757	Frame_Shift_Del	DEL	AG	0	NM_152652.1	p.R562fs	"HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers"	0	0	0	Novel: Gene ZNF48 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	95	24	20	121	45	26.95	7	0	0
ORAI3	1	0	0	16	30964892	30964893	30872393	30872394	Frame_Shift_Ins	INS	0	C	NM_152288.2	p.A206fs	HMMPfam_DUF1650	0	0	0	Novel: Gene ORAI3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	365	157	41.64	369	168	43.75	59	27	34.62
CES7	1	0	0	16	55903590	55903593	54461091	54461094	Frame_Shift_Del	DEL	GGGC	0	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
HERPUD1	2	X	0	16	56969311	56969311	55526812	55526812	Splice_Site	SNP	A	G	NM_014685.2	e3-2	0	0	0	0	Novel: Gene HERPUD1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	13	12	48	13	15	53.57	23	9	28.12
HERPUD1	2	X	0	16	56974036	56974036	55531537	55531537	Nonsense_Mutation	SNP	C	T	NM_014685.2	p.R262*	NULL	0	0	0	Novel: Gene HERPUD1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	18	23	56.1	16	26	61.9	NA	NA	NA
CCDC113	2	0	0	16	58312471	58312471	56869972	56869972	Frame_Shift_Del	DEL	G	0	NM_014157.3	p.E327fs	NULL	0	0	0	Novel: Gene CCDC113 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	168	76	31.02	155	63	28.9	0	0	0
CCDC113	2	0	0	16	58312471	58312471	56869972	56869972	Frame_Shift_Del	DEL	G	0	NM_014157.3	p.E327fs	NULL	0	0	0	Novel: Gene CCDC113 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	186	80	30.08	158	65	29.15	0	0	0
PRSS54	1	0	0	16	58319927	58319927	56877428	56877428	Nonsense_Mutation	SNP	G	A	NM_001080492.1	p.Q146*	"HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys"	0	0	0	Novel: Gene PRSS54 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	155	158	50.48	318	277	46.4	0	0	0
CES2	1	0	0	16	66975411	66975411	65532912	65532912	Frame_Shift_Del	DEL	T	0	NM_003869.4	p.F371fs	"HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases"	0	0	0	Novel: Gene CES2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	160	75	31.91	219	112	33.84	11	0	0
NOL3	2	0	0	16	67208714	67208715	65766215	65766216	Frame_Shift_Ins	INS	0	A	NM_003946.3	p.E163fs	NULL	0	0	0	Novel: Gene NOL3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	22	9	40.91	17	4	23.53	2	0	0
NOL3	2	0	0	16	67208848	67208848	65766349	65766349	Splice_Site	SNP	G	A	NM_003946.3	e2+1	0	0	0	0	Novel: Gene NOL3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.0733	0	0.0489	NA	NA	NA	17	17	50	14	14	50	NA	NA	NA
ELMO3	3	0	0	16	67236109	67236109	65793610	65793610	Nonsense_Mutation	SNP	A	T	NM_024712.3	p.K448*	HMMPfam_ELMO_CED12	rs192034781	by-1000genomes	"1000GENOMES,"	Novel: Gene ELMO3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.4416	0.1338	0.3347	0.01	0	0.0032	8	6	42.86	13	9	40.91	3	1	25
ELMO3	3	0	0	16	67236109	67236109	65793610	65793610	Nonsense_Mutation	SNP	A	T	NM_024712.3	p.K448*	HMMPfam_ELMO_CED12	rs192034781	by-1000genomes	"1000GENOMES,"	Novel: Gene ELMO3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.4416	0.1338	0.3347	0.01	0	0.0032	47	57	54.81	129	115	47.13	2	6	75
ELMO3	3	0	0	16	67236109	67236109	65793610	65793610	Nonsense_Mutation	SNP	A	T	NM_024712.3	p.K448*	HMMPfam_ELMO_CED12	rs192034781	by-1000genomes	"1000GENOMES,"	Novel: Gene ELMO3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.4416	0.1338	0.3347	0.01	0	0.0032	83	59	41.55	84	75	47.17	2	3	60
PLEKHG4	1	0	0	16	67322391	67322391	65879892	65879892	Splice_Site	SNP	G	C	NM_001129727.1	e20-1	0	0	0	0	Novel: Gene PLEKHG4 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.057	0	0.0372	NA	NA	NA	185	251	57.57	244	269	52.33	2	2	50
DPEP2	1	0	0	16	68025773	68025773	66583274	66583274	Nonsense_Mutation	SNP	G	C	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
DUS2L	1	0	0	16	68105012	68105012	66662513	66662513	Splice_Site	SNP	G	A	NM_017803.3	e10+1	0	0	0	0	Novel: Gene DUS2L in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	11	19	63.33	17	18	51.43	0	3	100
NQO1	2	0	0	16	69748924	69748927	68306425	68306428	Frame_Shift_Del	DEL	CACT	0	NM_000903.2	p.V120fs	"HMMPfam_Flavodoxin_2,superfamily_Flavoproteins"	0	0	0	Novel: Gene NQO1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	0.0013	0.05	0.01	401	90	18.33	222	45	16.85	0	0	0
NQO1	2	0	0	16	69748924	69748927	68306425	68306428	Frame_Shift_Del	DEL	CACT	0	NM_000903.2	p.V120fs	"HMMPfam_Flavodoxin_2,superfamily_Flavoproteins"	0	0	0	Novel: Gene NQO1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	0.0013	0.05	0.01	168	45	21.03	227	48	17.39	NA	NA	NA
PDPR	1	0	0	16	70154451	70154451	68711952	68711952	Nonsense_Mutation	SNP	G	A	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
FUK	1	0	0	16	70508510	70508510	69066011	69066011	Nonsense_Mutation	SNP	C	T	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
HYDIN	1	0	0.01	16	70975538	70975538	69533039	69533039	Splice_Site	SNP	C	G	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
ZNF23	1	0	0	16	71482367	71482370	70039868	70039871	Frame_Shift_Del	DEL	TAGT	0	NM_145911.1	p.T520fs	"HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667"	0	0	0	Novel: Gene ZNF23 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	295	93	23.97	360	133	26.92	9	0	0
MLKL	3	0	0	16	74709591	74709594	73267092	73267095	Frame_Shift_Del	DEL	TCTG	0	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	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	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
TMEM170A	1	0	0	16	75485566	75485566	74043067	74043067	Splice_Site	DEL	C	0	NM_145254.1	e2+1	0	0	0	0	Novel: Gene TMEM170A in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	349	161	31.38	258	118	31.13	11	5	9.43
CNTNAP4	1	0	0.01	16	76523688	76523689	75081189	75081190	Frame_Shift_Ins	INS	0	G	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
HSD17B2	1	0	0	16	82101876	82101876	80659377	80659377	Nonsense_Mutation	SNP	G	T	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
ACSF3	2	0	0	16	89167285	89167286	87694786	87694787	Frame_Shift_Del	DEL	CA	0	NM_001127214.1	p.T67fs	"HMMPfam_AMP-binding,superfamily_SSF56801"	0	0	0	Novel: Gene ACSF3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	52	22	29.73	15	5	25	NA	NA	NA
ACSF3	2	0	0	16	89178504	89178504	87706005	87706005	Nonsense_Mutation	SNP	G	A	NM_001127214.1	p.W276*	"HMMPfam_AMP-binding,superfamily_SSF56801"	0	0	0	Novel: Gene ACSF3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	184	148	44.58	115	100	46.51	42	16	27.59
ZNF778	2	0	0	16	89294365	89294365	87821866	87821866	Nonsense_Mutation	SNP	G	T	NM_182531.2	p.E529*	superfamily_C2H2 and C2HC zinc fingers	0	0	0	Novel: Gene ZNF778 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	64	65	50.39	49	44	47.31	5	7	58.33
ZNF778	2	0	0	16	89294865	89294865	87822366	87822366	Nonsense_Mutation	SNP	C	A	NM_182531.2	p.Y695*	superfamily_C2H2 and C2HC zinc fingers	0	0	0	Novel: Gene ZNF778 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	0.0146	0	0.0097	NA	NA	NA	27	17	38.64	13	21	61.76	6	4	40
PRDM7	1	0	0	16	90124803	90124803	88652304	88652304	Nonsense_Mutation	SNP	C	A	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
SCARF1	1	0	0	17	1538346	1538347	1485096	1485097	Frame_Shift_Del	DEL	GC	0	NM_003693.2	p.R733fs	NULL	0	0	0	Novel: Gene SCARF1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	83	32	27.59	88	31	26.05	0	0	0
CYB5D2	1	0	0	17	4058151	4058152	4004900	4004901	Frame_Shift_Ins	INS	0	G	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
ZMYND15	1	0	0	17	4644304	4644307	4591053	4591056	Frame_Shift_Del	DEL	CCCC	0	NM_001136046.1	p.P155fs	NULL	0	0	0	Novel: Gene ZMYND15 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	9	2	18.18	3	3	42.86	NA	NA	NA
PLD2	2	0	0	17	4711680	4711681	4658644	4658645	Frame_Shift_Del	DEL	AA	0	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	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
GP1BA	1	0	0	17	4837744	4837748	4778485	4778489	Frame_Shift_Del	DEL	TAATG	0	NM_000173.5	p.N603fs	NULL	0	0	0	Novel: Gene GP1BA not in Cosmic Database	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	139	52	27.23	122	40	24.69	NA	NA	NA
USP6	4	X	0.005	17	5040433	5040433	4981157	4981157	Frame_Shift_Del	DEL	C	0	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	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	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	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
AIPL1	1	0	0	17	6328950	6328950	6269674	6269674	Nonsense_Mutation	SNP	G	A	NM_014336.3	p.Q329*	superfamily_SSF48452	0	0	0	Novel: Gene AIPL1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	23	38	62.3	16	20	54.05	NA	NA	NA
KIAA0753	1	0	0	17	6493199	6493199	6433923	6433923	Nonsense_Mutation	SNP	G	A	NM_014804.2	p.Q896*	NULL	rs149782904	by-1000genomes	"1000GENOMES,"	Novel: Gene KIAA0753 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0	0.6774	0.2156	0	0.01	0.0014	122	141	53.61	84	77	47.83	NA	NA	NA
DVL2	1	0	0	17	7137440	7137440	7078164	7078164	Nonsense_Mutation	SNP	G	A	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
NEURL4	1	0	0.005	17	7230916	7230916	7171640	7171640	Nonsense_Mutation	SNP	C	T	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
CYB5D1	1	0	0	17	7762022	7762022	7702747	7702747	Nonsense_Mutation	SNP	G	A	NM_144607.4	p.W112*	superfamily_Cytochrome b5-like heme/steroid binding domain	0	0	0	Novel: Gene CYB5D1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	61	52	46.02	26	22	45.83	1	2	66.67
ALOXE3	1	0	0	17	8011785	8011785	7952510	7952510	Splice_Site	SNP	C	T	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
PFAS	1	0	0	17	8159653	8159656	8100378	8100381	Frame_Shift_Del	DEL	TGTT	0	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
MFSD6L	1	0	0	17	8701168	8701168	8641893	8641893	Frame_Shift_Del	DEL	A	0	NM_152599.3	p.L424fs	superfamily_MFS_gen_substrate_transporter	0	0	0	Novel: Gene MFSD6L in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	86	25	22.52	161	27	14.29	0	0	0
MYH13	1	0	0	17	10248641	10248641	10189366	10189366	Nonsense_Mutation	SNP	G	A	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
MYH2	1	0	0	17	10428563	10428563	10369288	10369288	Frame_Shift_Del	DEL	T	0	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
ELAC2	1	0	0	17	12898300	12898300	12839025	12839025	Nonsense_Mutation	SNP	G	A	NM_018127.6	p.R630*	"HMMPfam_Lactamase_B,superfamily_Metallo-hydrolase/oxidoreductase"	0	0	0	Novel: Gene ELAC2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	82	75	47.47	103	93	47.45	35	21	37.5
FAM18B2	1	0	0	17	15457056	15457057	15397781	15397782	Frame_Shift_Ins	INS	0	AAGCT	NM_145301.2	p.F61fs	HMMPfam_DUF846	0	0	0	Novel: Gene FAM18B2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	422	152	35.51	214	62	28.44	NA	NA	NA
ZNF286B	3	0	0	17	18565699	18565699	18506424	18506424	Nonsense_Mutation	SNP	G	A	NM_001145045.1	p.Q374*	"HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers"	rs191971748	by-1000genomes	"1000GENOMES,"	Novel: Gene ZNF286B not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	0.8744	0.7246	0.8422	0.01	0	0.01	11	14	56	16	14	46.67	2	0	0
ZNF286B	3	0	0	17	18565699	18565699	18506424	18506424	Nonsense_Mutation	SNP	G	A	NM_001145045.1	p.Q374*	"HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers"	rs191971748	by-1000genomes	"1000GENOMES,"	Novel: Gene ZNF286B not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	0.8744	0.7246	0.8422	0.01	0	0.01	51	60	54.05	16	14	46.67	6	0	0
ZNF286B	3	0	0	17	18565699	18565699	18506424	18506424	Nonsense_Mutation	SNP	G	A	NM_001145045.1	p.Q374*	"HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers"	rs191971748	by-1000genomes	"1000GENOMES,"	Novel: Gene ZNF286B not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	0.8744	0.7246	0.8422	0.01	0	0.01	24	12	33.33	10	13	50	6	0	0
FBXW10	1	0	0	17	18653181	18653181	18593906	18593906	Frame_Shift_Del	DEL	A	0	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
MAP2K3	1	0	0	17	21201792	21201792	21142385	21142385	Splice_Site	SNP	G	A	NM_145109.2	e2+1	0	0	0	0	Novel: Gene MAP2K3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	147	41	21.81	175	55	23.91	11	9	45
ALDOC	1	0	0	17	26901091	26901092	23925218	23925219	Frame_Shift_Ins	INS	0	A	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
SPAG5	1	0	0	17	26918827	26918828	23942954	23942955	Frame_Shift_Del	DEL	AA	0	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
FLOT2	1	0	0	17	27209186	27209186	24233312	24233312	Nonsense_Mutation	SNP	G	A	NM_004475.2	p.R217*	HMMSmart_PHB	0	0	0	Novel: Gene FLOT2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	184	47	20.35	75	89	54.27	62	5	7.46
CRYBA1	1	0	0	17	27580717	27580717	24604843	24604843	Nonsense_Mutation	SNP	G	A	NM_005208.4	p.W139*	"HMMPfam_Crystall,HMMSmart_SM00247,superfamily_gamma-Crystallin-like"	0	0	0	Novel: Gene CRYBA1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	51	54	51.43	77	58	42.96	0	1	100
EFCAB5	5	0	0	17	28268857	28268857	25292983	25292983	Splice_Site	SNP	G	A	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	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	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	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	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
ADAP2	1	0	0	17	29283489	29283489	26307615	26307615	Splice_Site	DEL	T	0	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
FNDC8	1	0	0	17	33456524	33456525	30480637	30480638	Frame_Shift_Del	DEL	TG	0	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
AMAC1	2	0	0	17	33520792	33520792	30544905	30544905	Frame_Shift_Del	DEL	T	0	NM_152462.2	p.T179fs	superfamily_Multidrug resistance efflux transporter EmrE	0	0	0	Novel: Gene AMAC1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	426	189	30.53	541	226	29.39	0	0	0
AMAC1	2	0	0	17	33520792	33520792	30544905	30544905	Frame_Shift_Del	DEL	T	0	NM_152462.2	p.T179fs	superfamily_Multidrug resistance efflux transporter EmrE	0	0	0	Novel: Gene AMAC1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	127	57	30.81	252	128	33.42	NA	NA	NA
SLFN11	1	0	0	17	33680142	33680142	30704255	30704255	Nonsense_Mutation	SNP	G	A	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
PEX12	1	0	0	17	33903147	33903148	30927260	30927261	Frame_Shift_Ins	INS	0	AGGC	NM_000286.2	p.L245fs	HMMPfam_Pex2_Pex12	0	0	0	Novel: Gene PEX12 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	166	68	40.72	188	53	27.89	3	0	0
GAS2L2	1	0	0	17	34074230	34074233	31098343	31098346	Frame_Shift_Del	DEL	CTTA	0	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
RDM1	1	0	0	17	34257234	34257235	31281347	31281348	Frame_Shift_Del	DEL	TG	0	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
TBC1D3C	2	0	0	17	34587787	34587787	31611900	31611900	Nonsense_Mutation	SNP	G	C	NM_001001418.3	p.Y99*	"HMMPfam_TBC,HMMSmart_TBC,superfamily_RabGAP_TBC"	0	0	0	Novel: Gene TBC1D3C in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	6	3	33.33	4	2	33.33	NA	NA	NA
TBC1D3C	2	0	0	17	34587787	34587787	31611900	31611900	Nonsense_Mutation	SNP	G	C	NM_001001418.3	p.Y99*	"HMMPfam_TBC,HMMSmart_TBC,superfamily_RabGAP_TBC"	0	0	0	Novel: Gene TBC1D3C in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	2	6	75	0	8	100	0	0	0
MRM1	1	0	0	17	34958983	34958984	32033096	32033097	Frame_Shift_Ins	INS	0	G	NM_024864.3	p.C182fs	"HMMPfam_SpoU_methylase,superfamily_alpha/beta knot"	0	0	0	Novel: Gene MRM1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	219	85	37.44	172	70	39.55	5	0	0
GPR179	1	0	0	17	36499378	36499378	33752904	33752904	Frame_Shift_Del	DEL	C	0	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
STAC2	1	0	0	17	37371484	37371484	34625010	34625010	Splice_Site	SNP	C	T	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
KRTAP1-1	2	0	0	17	39197441	39197441	36450967	36450967	Frame_Shift_Del	DEL	C	0	NM_030967.2	p.C70fs	HMMPfam_Keratin_B2	0	0	0	Novel: Gene KRTAP1-1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	163	64	28.07	343	122	25.63	0	0	0
KRTAP1-1	2	0	0	17	39197441	39197441	36450967	36450967	Frame_Shift_Del	DEL	C	0	NM_030967.2	p.C70fs	HMMPfam_Keratin_B2	0	0	0	Novel: Gene KRTAP1-1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	171	83	30.97	122	61	32.62	0	0	0
KRT33A	1	0	0	17	39504782	39504782	36758308	36758308	Nonsense_Mutation	SNP	C	A	NM_004138.2	p.E181*	HMMPfam_Filament	0	0	0	Novel: Gene KRT33A in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	44	20	31.25	67	60	46.88	0	0	0
KRT16	2	0	0	17	39767483	39767483	37021009	37021009	Splice_Site	SNP	C	G	NM_005557.3	e4-1	0	0	0	0	Novel: Gene KRT16 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	6	11	64.71	12	20	62.5	0	0	0
KRT16	2	0	0	17	39768604	39768604	37022130	37022130	Frame_Shift_Del	DEL	G	0	NM_005557.3	p.L113fs	NULL	0	0	0	Novel: Gene KRT16 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	163	74	30.83	145	69	31.65	0	0	0
STAT5A	1	0	0	17	40461395	40461396	37714921	37714922	Frame_Shift_Ins	INS	0	T	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
ATP6V0A1	1	0	0	17	40647716	40647716	37901242	37901242	Nonsense_Mutation	SNP	C	A	NM_001130020.1	p.Y521*	HMMPfam_V_ATPase_I	0	0	0	Novel: Gene ATP6V0A1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	34	28	45.16	42	42	50	15	7	31.82
NBR1	1	0	0	17	41361938	41361938	38717464	38717464	Frame_Shift_Del	DEL	C	0	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
DHX8	1	0	0	17	41571219	41571219	38926745	38926745	Nonsense_Mutation	SNP	C	T	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
GRN	1	0	0	17	42429786	42429786	39785312	39785312	Frame_Shift_Del	DEL	G	0	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
ACBD4	1	0	0	17	43213913	43213913	40569439	40569439	Nonsense_Mutation	SNP	C	G	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
SPATA20	1	0	0	17	48629424	48629424	45984423	45984423	Nonsense_Mutation	SNP	G	T	NM_022827.2	p.E614*	superfamily_Six-hairpin glycosidases	0	0	0	Novel: Gene SPATA20 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	11	11	50	7	20	74.07	112	72	39.13
TOM1L1	2	0	0	17	52978281	52978282	50333280	50333281	Frame_Shift_Del	DEL	AT	0	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	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
TRIM25	1	0	0	17	54991208	54991212	52346207	52346211	Frame_Shift_Del	DEL	ATGGC	0	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
LPO	3	0	0	17	56329775	56329776	53684774	53684775	Frame_Shift_Ins	INS	0	CCAT	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	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	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
MPO	1	0	0	17	56357377	56357377	53712376	53712376	Splice_Site	SNP	T	C	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
BZRAP1	1	0	0	17	56393902	56393902	53748901	53748901	Splice_Site	SNP	C	G	NM_004758.2	e15-1	0	0	0	0	Novel: Gene BZRAP1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	3	14	82.35	8	8	50	11	24	68.57
SUPT4H1	1	0	0	17	56428871	56428871	53783870	53783870	Splice_Site	DEL	T	0	NM_003168.1	e2-2	0	0	0	0	Novel: Gene SUPT4H1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	36	15	29.41	42	18	29.51	29	19	32.76
RAD51C	2	0	0	17	56770101	56770101	54125100	54125100	Nonsense_Mutation	SNP	C	T	NM_058216.1	p.Q33*	NULL	0	0	0	Novel: Gene RAD51C in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	110	113	50.67	116	80	40.82	2	3	60
RAD51C	2	0	0	17	56772369	56772370	54127368	54127369	Frame_Shift_Ins	INS	0	A	NM_058216.1	p.Y75fs	NULL	0	0	0	Novel: Gene RAD51C in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	71	33	46.48	77	43	54.43	7	0	0
NACA2	1	0	0	17	59668069	59668069	57022851	57022851	Frame_Shift_Del	DEL	T	0	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
MARCH10	1	0	0	17	60814352	60814352	58168084	58168084	Nonsense_Mutation	SNP	C	A	NM_001100875.1	p.E293*	NULL	0	0	0	Novel: Gene MARCH10 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	1198	1308	51.9	1106	1120	50.11	0	0	0
CCDC45	1	0	0	17	62522259	62522260	59952721	59952722	Frame_Shift_Ins	INS	0	A	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
RGS9	1	0	0	17	63221165	63221165	60651627	60651627	Frame_Shift_Del	DEL	G	0	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
AMZ2	1	0	0	17	66246535	66246536	63758130	63758131	Frame_Shift_Ins	INS	0	T	NM_001033569.1	p.E70fs	NULL	0	0	0	Novel: Gene AMZ2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	209	78	35.94	175	73	40.11	11	3	27.27
SLC16A6	1	0	0	17	66265371	66265371	63776966	63776966	Nonsense_Mutation	SNP	G	A	NM_004694.4	p.Q480*	superfamily_MFS_gen_substrate_transporter	0	0	0	Novel: Gene SLC16A6 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	6	4	40	5	12	70.59	0	1	100
ABCA8	2	0	0	17	66872845	66872845	64384440	64384440	Splice_Site	SNP	C	G	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	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
ABCA10	2	0	0.005	17	67183821	67183821	64695416	64695416	Splice_Site	SNP	C	T	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	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
KCNJ16	1	0	0	17	68128754	68128754	65640349	65640349	Nonsense_Mutation	SNP	C	T	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
ITGB4	1	0	0	17	73723539	73723539	71235134	71235134	Nonsense_Mutation	SNP	C	T	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
TRIM47	1	0	0	17	73870872	73870872	71382467	71382467	Nonsense_Mutation	SNP	C	A	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
QRICH2	1	0	0.005	17	74300567	74300567	71812162	71812162	Nonsense_Mutation	SNP	C	A	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
SPHK1	3	0	0	17	74383108	74383108	71894703	71894703	Frame_Shift_Del	DEL	G	0	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
SPHK1	3	0	0	17	74383108	74383108	71894703	71894703	Frame_Shift_Del	DEL	G	0	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	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
LGALS3BP	1	0	0	17	76967868	76967868	74479463	74479463	Frame_Shift_Del	DEL	A	0	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
ENGASE	2	0	0	17	77075625	77075625	74587220	74587220	Nonsense_Mutation	SNP	C	A	NM_001042573.1	p.C157*	HMMPfam_Glyco_hydro_85	0	0	0	Novel: Gene ENGASE in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.0146	0	0.0097	NA	NA	NA	82	38	31.67	44	32	42.11	11	13	54.17
ENGASE	2	0	0	17	77077979	77077979	74589574	74589574	Splice_Site	SNP	G	A	NM_001042573.1	e7-1	0	0	0	0	Novel: Gene ENGASE in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.0299	0	0.0202	NA	NA	NA	7	20	74.07	11	19	63.33	2	3	60
CCDC40	2	0	0	17	78055352	78055352	75669947	75669947	Nonsense_Mutation	SNP	C	T	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	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
CARD14	1	0	0	17	78172484	78172484	75787079	75787079	Nonsense_Mutation	SNP	C	T	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
RNF213	1	X	0.01	17	78272124	78272124	75886719	75886719	Nonsense_Mutation	SNP	G	A	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
SLC38A10	1	0	0	17	79226400	79226400	76840995	76840995	Nonsense_Mutation	SNP	G	A	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
FSCN2	1	0	0	17	79495687	79495687	77110282	77110282	Nonsense_Mutation	SNP	C	T	NM_001077182.2	p.Q44*	"superfamily_Actin-crosslinking proteins,HMMPfam_Fascin"	0	0	0	Novel: Gene FSCN2 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	0.0149	0	0.0099	NA	NA	NA	4	8	66.67	3	6	66.67	0	0	0
ARL16	1	0	0	17	79649104	79649104	77259509	77259509	Nonsense_Mutation	SNP	G	A	NM_001040025.1	p.Q128*	"HMMPfam_Arf,superfamily_SSF52540"	0	0	0	Novel: Gene ARL16 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	23	9	28.12	10	8	44.44	8	14	63.64
DCXR	1	0	0	17	79994444	79994444	77587733	77587733	Frame_Shift_Del	DEL	C	0	NM_016286.2	p.A142fs	"HMMPfam_adh_short,PatternScan_ADH_SHORT,superfamily_NAD(P)-bd"	0	0	0	Novel: Gene DCXR in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	9	4	30.77	14	9	39.13	14	4	22.22
TEX19	1	0	0	17	80320462	80320462	77913751	77913751	Frame_Shift_Del	DEL	C	0	NM_207459.2	p.W147fs	NULL	0	0	0	Novel: Gene TEX19 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	16	7	30.43	31	11	26.19	0	0	0
B3GNTL1	1	0	0	17	81006448	81006448	78599737	78599737	Splice_Site	SNP	T	C	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
TGIF1	1	0	0	18	3452067	3452067	3442067	3442067	Nonsense_Mutation	SNP	G	A	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
ARHGAP28	1	0	0	18	6898483	6898483	6888483	6888483	Nonsense_Mutation	SNP	G	A	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
RNMT	1	0	0	18	13746319	13746319	13736319	13736319	Nonsense_Mutation	SNP	C	T	NM_003799.1	p.R414*	"HMMPfam_Pox_MCEL,superfamily_S-adenosyl-L-methionine-dependent methyltransferases"	0	0	0	Novel: Gene RNMT in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	86	101	54.01	61	41	40.2	17	4	19.05
ZNF519	1	0	0	18	14105272	14105272	14095272	14095272	Frame_Shift_Del	DEL	G	0	NM_145287.3	p.Q423fs	"HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers"	0	0	0	Novel: Gene ZNF519 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	109	38	25.68	228	80	25.81	6	0	0
POTEC	2	0	0	18	14513786	14513786	14503786	14503786	Splice_Site	SNP	T	C	NM_001137671.1	e10-2	0	rs8095431	unknown	"WI_SSAHASNP,"	Novel: Gene POTEC in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.2508	0.4532	0.2947	0.01	0.0041	0.01	18	10	35.71	39	26	40	0	0	0
POTEC	2	0	0	18	14513786	14513786	14503786	14503786	Splice_Site	SNP	T	C	NM_001137671.1	e10-2	0	rs8095431	unknown	"WI_SSAHASNP,"	Novel: Gene POTEC in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.2508	0.4532	0.2947	0.01	0.0041	0.01	21	18	46.15	17	15	46.88	0	0	0
MIB1	2	0	0	18	19395673	19395673	17649671	17649671	Nonsense_Mutation	SNP	C	T	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	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
CABLES1	1	0	0	18	20815980	20815981	19069978	19069979	Frame_Shift_Ins	INS	0	C	NM_001100619.2	p.R437fs	NULL	0	0	0	Novel: Gene CABLES1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	186	72	37.5	137	42	30	16	4	25
LAMA3	1	0	0.005	18	21451627	21451627	19705625	19705625	Splice_Site	SNP	T	C	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
OSBPL1A	2	0	0	18	21957382	21957383	20211380	20211381	Frame_Shift_Ins	INS	0	AATT	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	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
DSC3	1	0	0	18	28577015	28577015	26831013	26831013	Splice_Site	SNP	C	A	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
MCART2	1	0	0.005	18	29340426	29340426	27594424	27594424	Frame_Shift_Del	DEL	C	0	NM_001034172.2	p.D67fs	"superfamily_Mitochondrial carrier,HMMPfam_Mito_carr"	0	0	0	Novel: Gene MCART2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	208	93	30.9	330	146	30.35	1	0	0
KIAA1632	1	0	0	18	43456252	43456253	41710250	41710251	Frame_Shift_Ins	INS	0	A	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
LOXHD1	1	0	0	18	44109190	44109190	42363188	42363188	Nonsense_Mutation	SNP	G	A	NM_144612.6	p.R1216*	"HMMPfam_PLAT,HMMSmart_LH2,superfamily_Lipase_LipOase"	0	0	0	Novel: Gene LOXHD1 not in Cosmic Database	Novel: Amino Acid	0.158	0.1425	0.1546	NA	NA	NA	21	26	55.32	12	16	57.14	0	3	100
TCEB3B	2	0	0.005	18	44560633	44560633	42814631	42814631	Nonsense_Mutation	SNP	C	A	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	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
MAPK4	1	0	0	18	48255553	48255554	46509551	46509552	Frame_Shift_Del	DEL	CT	0	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
MRO	4	0	0	18	48331612	48331613	46585610	46585611	Frame_Shift_Del	DEL	AG	0	NM_001127176.1	p.L128fs	superfamily_ARM repeat	0	0	0	Novel: Gene MRO in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	286	139	32.33	209	23	9.91	0	0	0
MRO	4	0	0	18	48331612	48331613	46585610	46585611	Frame_Shift_Del	DEL	AG	0	NM_001127176.1	p.L128fs	superfamily_ARM repeat	0	0	0	Novel: Gene MRO in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	46	20	30.3	52	20	27.4	0	0	0
MRO	4	0	0	18	48331612	48331613	46585610	46585611	Frame_Shift_Del	DEL	AG	0	NM_001127176.1	p.L128fs	superfamily_ARM repeat	0	0	0	Novel: Gene MRO in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	233	96	28.92	249	97	27.71	0	0	0
MRO	4	0	0	18	48331612	48331613	46585610	46585611	Frame_Shift_Del	DEL	AG	0	NM_001127176.1	p.L128fs	superfamily_ARM repeat	0	0	0	Novel: Gene MRO in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	180	65	26.32	202	96	31.89	0	0	0
CCBE1	1	0	0.005	18	57115306	57115307	55266286	55266287	Frame_Shift_Ins	INS	0	A	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
SERPINB12	1	0	0.005	18	61228415	61228415	59379395	59379395	Nonsense_Mutation	SNP	G	A	NM_080474.1	p.W161*	"HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin"	0	0	0	Novel: Gene SERPINB12 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	35	26	41.94	38	36	48.65	NA	NA	NA
HMSD	1	0	0	18	61621672	61621687	59772652	59772667	Frame_Shift_Del	DEL	GATGGAGATATTCATC	0	NM_001123366.1	p.D35fs	"HMMPfam_Serpin,superfamily_Serpins"	0	0	0	Novel: Gene HMSD not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	137	16	10.46	176	21	10.66	NA	NA	NA
ATP8B3	3	0	0	19	1795984	1795984	1746984	1746984	Nonsense_Mutation	SNP	G	A	NM_138813.2	p.R649*	"superfamily_SSF56784,superfamily_SSF81660"	rs187576612	by-1000genomes	"1000GENOMES,"	Novel: Gene ATP8B3 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	0.1506	0	0.1016	0.0013	0.002	0.0009	13	18	58.06	14	9	37.5	NA	NA	NA
ATP8B3	3	0	0	19	1796880	1796880	1747880	1747880	Splice_Site	SNP	T	C	NM_138813.2	e15-2	0	0	0	0	Novel: Gene ATP8B3 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	0.182	0.0319	0.1337	0.0026	0	0.0009	7	11	57.89	5	5	50	0	0	0
ATP8B3	3	0	0	19	1796880	1796880	1747880	1747880	Splice_Site	SNP	T	C	NM_138813.2	e15-2	0	0	0	0	Novel: Gene ATP8B3 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	0.182	0.0319	0.1337	0.0026	0	0.0009	8	5	38.46	5	8	61.54	0	0	0
ZNF77	1	0	0	19	2934365	2934366	2885365	2885366	Frame_Shift_Ins	INS	0	G	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
TJP3	2	0	0	19	3735934	3735934	3686934	3686934	Splice_Site	SNP	G	A	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	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
PLIN4	1	0	0	19	4504551	4504551	4455551	4455551	Nonsense_Mutation	SNP	G	A	NM_001080400.1	p.Q1332*	superfamily_Mannose-6-phosphate receptor binding protein 1 (Tip47) C-terminal domain	0	0	0	Novel: Gene PLIN4 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0	0	0.0009	31	32	50.79	14	35	71.43	1	3	75
TMEM146	2	0	0	19	5751720	5751720	5702720	5702720	Frame_Shift_Del	DEL	G	0	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	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
FUT6	1	0	0	19	5832077	5832078	5783077	5783078	Frame_Shift_Ins	INS	0	G	NM_000150.2	p.Y167fs	HMMPfam_Glyco_transf_10	0	0	0	Novel: Gene FUT6 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	0	0.05	0.01	50	32	62.75	63	30	47.62	1	0	0
DENND1C	2	0	0	19	6468370	6468370	6419370	6419370	Nonsense_Mutation	SNP	C	A	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	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
EMR1	1	0	0	19	6926517	6926517	6877517	6877517	Frame_Shift_Del	DEL	G	0	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
PEX11G	1	0	0	19	7542174	7542175	7448174	7448175	Frame_Shift_Ins	INS	0	TA	NM_080662.2	p.V213fs	HMMPfam_PEX11	0	0	0	Novel: Gene PEX11G in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0	0.02	0.01	14	4	28.57	19	8	42.11	NA	NA	NA
PNPLA6	1	0	0	19	7614996	7614996	7520996	7520996	Nonsense_Mutation	SNP	T	A	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
LASS4	1	0	0	19	8320704	8320704	8226704	8226704	Splice_Site	SNP	A	C	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
ACTL9	1	0	0	19	8808149	8808150	8669149	8669150	Frame_Shift_Ins	INS	0	A	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
MUC16	2	0	0.025	19	9082399	9082400	8943399	8943400	Frame_Shift_Del	DEL	CT	0	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	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
ZNF560	1	0	0	19	9577933	9577933	9438933	9438933	Nonsense_Mutation	SNP	G	A	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
ZNF491	1	0	0	19	11918024	11918027	11779024	11779027	Frame_Shift_Del	DEL	CCTT	0	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
ZNF440	2	0	0	19	11943225	11943225	11804225	11804225	Nonsense_Mutation	SNP	C	T	NM_152357.2	p.R412*	"HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667"	0	0	0	Novel: Gene ZNF440 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.3704	0.107	0.2789	NA	NA	NA	167	152	47.65	183	134	42.27	3	4	57.14
ZNF440	2	0	0	19	11943225	11943225	11804225	11804225	Nonsense_Mutation	SNP	C	T	NM_152357.2	p.R412*	"HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667"	0	0	0	Novel: Gene ZNF440 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.3704	0.107	0.2789	NA	NA	NA	272	197	42	201	169	45.68	2	2	50
ZNF439	1	0	0	19	11978413	11978413	11839413	11839413	Frame_Shift_Del	DEL	G	0	NM_152262.2	p.E177fs	superfamily_SSF57667	0	0	0	Novel: Gene ZNF439 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	323	155	32.43	425	152	26.3	122	43	25.29
ZNF844	7	0	0	19	12184857	12184857	12045857	12045857	Frame_Shift_Del	DEL	T	0	NM_001136501.1	p.F6fs	"HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box"	0	0	0	Novel: Gene ZNF844 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	216	73	25.09	234	82	25.71	6	3	10.34
ZNF844	7	0	0	19	12184857	12184857	12045857	12045857	Frame_Shift_Del	DEL	T	0	NM_001136501.1	p.F6fs	"HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box"	0	0	0	Novel: Gene ZNF844 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	22	4	15.38	49	21	30	6	0	0
ZNF844	7	0	0	19	12186971	12186975	12047971	12047975	Frame_Shift_Del	DEL	TTATC	0	NM_001136501.1	p.Y348fs	"HMMSmart_ZnF_C2H2,superfamily_SSF57667"	0	0	0	Novel: Gene ZNF844 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	36	11	23.4	43	13	23.21	NA	NA	NA
ZNF844	7	0	0	19	12186971	12186975	12047971	12047975	Frame_Shift_Del	DEL	TTATC	0	NM_001136501.1	p.Y348fs	"HMMSmart_ZnF_C2H2,superfamily_SSF57667"	0	0	0	Novel: Gene ZNF844 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	135	46	25.41	149	49	24.38	NA	NA	NA
ZNF844	7	0	0	19	12187316	12187317	12048316	12048317	Frame_Shift_Del	DEL	CA	0	NM_001136501.1	p.T462fs	NULL	0	0	0	Novel: Gene ZNF844 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0.01	0.04	0.01	741	286	27.61	544	198	26.61	8	0	0
ZNF844	7	0	0	19	12187316	12187317	12048316	12048317	Frame_Shift_Del	DEL	CA	0	NM_001136501.1	p.T462fs	NULL	0	0	0	Novel: Gene ZNF844 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0.01	0.04	0.01	278	120	29.85	361	141	27.7	8	0	0
ZNF844	7	0	0	19	12187316	12187317	12048316	12048317	Frame_Shift_Del	DEL	CA	0	NM_001136501.1	p.T462fs	NULL	0	0	0	Novel: Gene ZNF844 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0.01	0.04	0.01	309	147	31.89	365	167	31.04	9	2	18.18
ZNF44	1	0	0	19	12383761	12383761	12244761	12244761	Nonsense_Mutation	SNP	G	A	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
PRDX2	1	0	0	19	12910805	12910805	12771805	12771805	Splice_Site	SNP	T	C	NM_005809.4	e4-2	0	0	0	0	Novel: Gene PRDX2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	22	18	45	15	17	53.12	17	31	64.58
TRMT1	1	0	0	19	13220482	13220482	13081482	13081482	Nonsense_Mutation	SNP	C	T	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
CASP14	1	0	0	19	15166026	15166027	15027026	15027027	Frame_Shift_Del	DEL	AC	0	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
KIAA1683	1	0	0.015	19	18375346	18375346	18236346	18236346	Nonsense_Mutation	SNP	G	A	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
ELL	1	X	0.005	19	18583665	18583665	18444665	18444665	Nonsense_Mutation	SNP	G	A	NM_006532.3	p.R55*	HMMPfam_ELL	0	0	0	Novel: Gene ELL in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	9	7	43.75	15	16	51.61	NA	NA	NA
ZNF14	1	0	0	19	19822619	19822619	19683619	19683619	Nonsense_Mutation	SNP	G	A	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
ZNF506	1	0	0	19	19905600	19905600	19766600	19766600	Frame_Shift_Del	DEL	C	0	NM_001099269.2	p.E366fs	superfamily_SSF57667	0	0	0	Novel: Gene ZNF506 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	44	13	22.41	25	13	34.21	21	0	0
ZNF90	1	0	0	19	20229262	20229262	20090262	20090262	Frame_Shift_Del	DEL	T	0	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
ZNF486	4	0	0.005	19	20308149	20308149	20169149	20169149	Nonsense_Mutation	SNP	C	G	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	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	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	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
ZNF493	2	0	0	19	21606719	21606720	21398559	21398560	Frame_Shift_Del	DEL	CT	0	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	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
ZNF100	1	0	0	19	21927762	21927762	21719602	21719602	Nonsense_Mutation	SNP	G	T	NM_173531.3	p.Y68*	"HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352)"	rs187140552	by-1000genomes	"1000GENOMES,"	Novel: Gene ZNF100 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.1854	0.0268	0.1303	0.0026	0	0.0009	96	92	48.94	86	61	41.5	NA	NA	NA
ZNF43	1	0	0.005	19	21991462	21991462	21783302	21783302	Nonsense_Mutation	SNP	A	T	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
ZNF208	2	0	0	19	22155979	22155979	21947819	21947819	Frame_Shift_Del	DEL	A	0	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	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
ZNF257	1	0	0	19	22271129	22271129	22062969	22062969	Frame_Shift_Del	DEL	A	0	NM_033468.2	p.R193fs	"HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers"	0	0	0	Novel: Gene ZNF257 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	56	21	26.92	32	15	31.91	3	2	33.33
ZNF99	1	0	0.005	19	22942429	22942430	22734269	22734270	Frame_Shift_Ins	INS	0	G	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
ZNF91	1	0	0	19	23542504	23542504	23334344	23334344	Frame_Shift_Del	DEL	G	0	NM_003430.2	p.L1093fs	"HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers"	0	0	0	Novel: Gene ZNF91 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	22	9	29.03	43	21	32.31	13	4	21.05
NUDT19	1	0	0	19	33200300	33200300	37892140	37892140	Splice_Site	SNP	T	C	NM_001105570.1	e2+2	0	0	0	0	Novel: Gene NUDT19 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	55	68	55.28	29	19	37.25	0	3	100
SLC7A9	1	0	0	19	33353113	33353114	38044953	38044954	Frame_Shift_Ins	INS	0	T	NM_001126335.1	p.N206fs	HMMPfam_AA_permease	0	0	0	Novel: Gene SLC7A9 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	81	33	39.29	79	26	32.5	0	0	0
GRAMD1A	1	0	0	19	35505292	35505292	40197132	40197132	Splice_Site	SNP	G	A	NM_020895.3	e10+1	0	rs192263602	by-1000genomes	"1000GENOMES,"	Novel: Gene GRAMD1A in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.1941	0	0.1304	0.0026	0.002	0.0018	24	27	52.94	20	15	42.86	7	39	79.59
FAM187B	2	0	0	19	35718915	35718915	40410755	40410755	Frame_Shift_Del	DEL	G	0	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	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
ZNF790	1	0	0	19	37310307	37310308	42002147	42002148	Frame_Shift_Ins	INS	0	T	NM_206894.2	p.N313fs	"HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers"	0	0	0	Novel: Gene ZNF790 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	59	24	39.34	70	34	46.58	5	0	0
ZNF585B	2	0	0	19	37677585	37677588	42369425	42369428	Frame_Shift_Del	DEL	AATT	0	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	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
WDR87	2	0	0.005	19	38376594	38376594	43068434	43068434	Nonsense_Mutation	SNP	G	A	NM_031951.3	p.R2534*	NULL	rs142857310	by-1000genomes	"1000GENOMES,"	Novel: Gene WDR87 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	0.079	0	0.0618	0.0013	0	0.0005	13	18	58.06	13	26	66.67	0	0	0
WDR87	2	0	0.005	19	38383619	38383619	43075459	43075459	Nonsense_Mutation	SNP	C	T	NM_031951.3	p.W869*	superfamily_WD40 repeat-like	0	0	0	Novel: Gene WDR87 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	15	16	51.61	13	9	40.91	0	0	0
IL28A	1	0	0	19	39760612	39760612	44452452	44452452	Nonsense_Mutation	SNP	C	T	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
FCGBP	2	0	0.025	19	40408527	40408537	45100367	45100377	Frame_Shift_Del	DEL	TCCCCGGCGGG	0	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	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
ZNF546	1	0	0	19	40521032	40521032	45212872	45212872	Nonsense_Mutation	SNP	C	T	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
CYP2A6	1	0	0	19	41354190	41354191	46046030	46046031	Frame_Shift_Del	DEL	TT	0	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
CYP2F1	1	0	0.005	19	41622178	41622178	46314018	46314018	Nonsense_Mutation	SNP	A	T	NM_000774.3	p.K29*	NULL	0	0	0	Novel: Gene CYP2F1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	14	12	44.44	23	23	50	0	0	0
CEACAM21	1	0	0	19	42083779	42083779	46775619	46775619	Nonsense_Mutation	SNP	C	T	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
CEACAM4	1	0	0	19	42125770	42125770	46817610	46817610	Splice_Site	SNP	T	C	NM_001817.2	e7-2	0	rs1126455	unknown	"LEE,"	Novel: Gene CEACAM4 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	82	73	46.79	98	81	45.25	9	4	30.77
ATP1A3	1	0	0	19	42485985	42485985	47177825	47177825	Splice_Site	SNP	T	C	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
MEGF8	1	0	0.01	19	42840969	42840969	47532809	47532809	Nonsense_Mutation	SNP	C	T	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
PSG6	1	0	0	19	43420621	43420621	48112461	48112461	Nonsense_Mutation	SNP	C	T	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
PSG4	2	0	0	19	43699204	43699204	48391044	48391044	Nonsense_Mutation	SNP	C	A	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	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
ZNF233	1	0	0	19	44777051	44777051	49468891	49468891	Splice_Site	SNP	G	C	NM_181756.1	e4-1	0	0	0	0	Novel: Gene ZNF233 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	21	13	38.24	19	21	52.5	0	0	0
PVR	1	0	0	19	45153285	45153285	49845125	49845125	Nonsense_Mutation	SNP	C	A	NM_006505.3	p.S211*	"HMMPfam_C2-set_2,superfamily_Immunoglobulin"	0	0	0	Novel: Gene PVR in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	86	87	50.29	36	46	56.1	20	17	45.95
KLC3	1	0	0	19	45854262	45854262	50546102	50546102	Frame_Shift_Del	DEL	C	0	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
CCDC9	1	0	0	19	47773663	47773663	52465503	52465503	Splice_Site	SNP	G	A	NM_015603.2	e8-1	0	0	0	0	Novel: Gene CCDC9 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	113	98	46.45	55	40	42.11	3	2	40
C5AR1	1	0	0	19	47823389	47823389	52515229	52515229	Frame_Shift_Del	DEL	A	0	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
PLA2G4C	1	0	0.005	19	48608673	48608673	53300485	53300485	Nonsense_Mutation	SNP	G	A	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
PLEKHA4	1	0	0	19	49370865	49370865	54062677	54062677	Nonsense_Mutation	SNP	G	A	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
HRC	1	0	0	19	49657306	49657306	54349118	54349118	Nonsense_Mutation	SNP	G	A	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
CCDC155	1	0	0	19	49899068	49899068	54590880	54590880	Frame_Shift_Del	DEL	G	0	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
RRAS	1	0	0	19	50139055	50139055	54830867	54830867	Nonsense_Mutation	SNP	C	A	NM_006270.3	p.E170*	"HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases"	0	0	0	Novel: Gene RRAS in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	35	13	27.08	18	14	43.75	21	12	36.36
SIGLEC11	1	0	0	19	50463481	50463481	55155293	55155293	Nonsense_Mutation	SNP	G	A	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
NAPSA	1	0	0.005	19	50862327	50862327	55554139	55554139	Frame_Shift_Del	DEL	C	0	NM_004851.1	p.V326fs	"HMMPfam_Asp,superfamily_Pept_Aspartic"	0	0	0	Novel: Gene NAPSA in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	28	11	27.5	17	9	33.33	NA	NA	NA
MYBPC2	1	0	0	19	50967684	50967685	55659496	55659497	Frame_Shift_Ins	INS	0	CG	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
CLEC11A	2	0	0	19	51228571	51228572	55920383	55920384	Frame_Shift_Ins	INS	0	GCCCA	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
CLEC11A	2	0	0	19	51228571	51228572	55920383	55920384	Frame_Shift_Ins	INS	0	GCCCA	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
GPR32	1	0	0	19	51274601	51274601	55966413	55966413	Nonsense_Mutation	SNP	G	A	NM_001506.1	p.W248*	"HMMPfam_7tm_1,superfamily_SSF81321"	0	0	0	Novel: Gene GPR32 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	101	61	37.65	58	48	45.28	0	0	0
ZNF175	1	0	0	19	52084690	52084691	56776502	56776503	Frame_Shift_Ins	INS	0	G	NM_007147.2	p.W41fs	"HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352)"	0	0	0	Novel: Gene ZNF175 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0	0.002	0.01	72	42	57.53	71	32	42.67	0	0	0
ZNF613	1	0	0	19	52448890	52448893	57140702	57140705	Frame_Shift_Del	DEL	TAAC	0	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	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
ZNF432	1	0	0	19	52536999	52536999	57228811	57228811	Nonsense_Mutation	SNP	G	A	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
ZNF610	1	0	0	19	52869540	52869541	57561352	57561353	Frame_Shift_Ins	INS	0	A	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
ZNF528	1	0	0	19	52918485	52918485	57610297	57610297	Frame_Shift_Del	DEL	G	0	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
ZNF534	1	0	0	19	52942222	52942222	57634034	57634034	Frame_Shift_Del	DEL	C	0	NM_001143939.1	p.R517fs	"HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667"	0	0	0	Novel: Gene ZNF534 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	60	26	30.23	17	7	29.17	0	0	0
ZNF578	1	0	0	19	53014478	53014488	57706290	57706300	Frame_Shift_Del	DEL	ACTAGTGAGAA	0	NM_001099694.1	p.S283fs	superfamily_C2H2 and C2HC zinc fingers	0	0	0	Novel: Gene ZNF578 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	331	79	19.27	315	53	14.4	NA	NA	NA
ZNF813	5	0	0	19	53994546	53994546	58686358	58686358	Frame_Shift_Del	DEL	C	0	NM_001004301.3	p.P354fs	superfamily_SSF57667	0	0	0	Novel: Gene ZNF813 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	349	156	30.83	477	107	18.26	20	0	0
ZNF813	5	0	0	19	53994602	53994602	58686414	58686414	Nonsense_Mutation	SNP	C	A	NM_001004301.3	p.C372*	"HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667"	0	0	0	Novel: Gene ZNF813 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	0.057	0	0.0372	NA	NA	NA	224	178	43.95	313	193	38.14	NA	NA	NA
ZNF813	5	0	0	19	53994822	53994823	58686634	58686635	Frame_Shift_Del	DEL	AA	0	NM_001004301.3	p.K446fs	"HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667"	0	0	0	Novel: Gene ZNF813 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0.01	0	0.01	107	45	29.03	174	67	27.35	0	0	0
ZNF813	5	0	0	19	53994822	53994823	58686634	58686635	Frame_Shift_Del	DEL	AA	0	NM_001004301.3	p.K446fs	"HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667"	0	0	0	Novel: Gene ZNF813 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0.01	0	0.01	312	194	37.6	210	81	27.65	2	0	0
ZNF813	5	0	0	19	53994822	53994823	58686634	58686635	Frame_Shift_Del	DEL	AA	0	NM_001004301.3	p.K446fs	"HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667"	0	0	0	Novel: Gene ZNF813 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0.01	0	0.01	39	14	26.42	39	18	30.51	5	0	0
LENG9	1	0	0	19	54973701	54973701	59665513	59665513	Nonsense_Mutation	SNP	G	A	NM_198988.1	p.Q359*	superfamily_Cyc_nuc_Pdiester	0	0	0	Novel: Gene LENG9 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	136	133	49.26	66	55	45.45	1	0	0
LILRB1	1	0	0	19	55144138	55144138	59835950	59835950	Nonsense_Mutation	SNP	C	G	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
KIR2DL3	1	0	0	19	55258839	55258839	59950651	59950651	Splice_Site	SNP	T	A	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
NLRP2	1	0	0	19	55494969	55494970	60186781	60186782	Frame_Shift_Ins	INS	0	T	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
TMEM150B	1	0	0	19	55828335	55828335	60520147	60520147	Splice_Site	SNP	C	T	NM_001085488.1	e5-1	0	0	0	0	Novel: Gene TMEM150B in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	33	49	59.76	26	21	44.68	2	3	60
COX6B2	2	0	0	19	55865252	55865253	60557064	60557065	Frame_Shift_Ins	INS	0	G	NM_144613.4	p.L66fs	"HMMPfam_COX6B,superfamily_Cyt_c_oxidase_6B"	0	0	0	Novel: Gene COX6B2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	12	4	33.33	26	10	38.46	0	0	0
COX6B2	2	0	0	19	55865252	55865253	60557064	60557065	Frame_Shift_Ins	INS	0	G	NM_144613.4	p.L66fs	"HMMPfam_COX6B,superfamily_Cyt_c_oxidase_6B"	0	0	0	Novel: Gene COX6B2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	13	5	38.46	9	4	40	0	0	0
NLRP4	1	0	0	19	56373526	56373526	61065338	61065338	Splice_Site	SNP	G	A	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
NLRP13	1	0	0	19	56423863	56423864	61115675	61115676	Frame_Shift_Ins	INS	0	A	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
ZNF471	1	0	0	19	57036954	57036967	61728766	61728779	Frame_Shift_Del	DEL	GAGAATTCATACTG	0	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
ZNF470	1	0	0	19	57088872	57088872	61780684	61780684	Nonsense_Mutation	SNP	C	T	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
ZNF835	1	0	0	19	57176539	57176539	61868351	61868351	Nonsense_Mutation	SNP	G	A	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
ZNF548	1	0	0.005	19	57910510	57910511	62602322	62602323	Frame_Shift_Del	DEL	AT	0	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
ZNF749	1	0	0	19	57954873	57954873	62646685	62646685	Frame_Shift_Del	DEL	C	0	NM_001023561.2	p.L120fs	NULL	0	0	0	Novel: Gene ZNF749 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	785	379	32.23	995	405	28.54	3	0	0
VN1R1	2	0	0	19	57967640	57967641	62659452	62659453	Frame_Shift_Del	DEL	AA	0	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	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
ZNF530	1	0	0	19	58117717	58117717	62809529	62809529	Frame_Shift_Del	DEL	C	0	NM_020880.3	p.S275fs	"HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667"	0	0	0	Novel: Gene ZNF530 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	28	13	31.71	35	23	39.66	0	0	0
ZNF671	1	0	0	19	58238758	58238758	62930570	62930570	Splice_Site	SNP	C	A	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
ZNF814	2	0	0	19	58384765	58384766	63076577	63076578	Frame_Shift_Ins	INS	0	G	NM_001144989.1	p.C664fs	"HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers"	0	0	0	Novel: Gene ZNF814 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	61	20	31.75	109	32	28.83	18	8	17.39
ZNF814	2	0	0	19	58385224	58385224	63077036	63077036	Nonsense_Mutation	SNP	G	A	NM_001144989.1	p.R512*	"HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers"	rs141239005	by-1000genomes	"1000GENOMES,"	Novel: Gene ZNF814 not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0.0013	0	0.0005	72	70	49.3	82	54	39.71	3	7	70
ZNF417	1	0	0	19	58420793	58420793	63112605	63112605	Nonsense_Mutation	SNP	G	A	NM_152475.2	p.Q285*	"HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers"	0	0	0	Novel: Gene ZNF417 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	169	101	37.41	175	168	48.84	19	9	32.14
ZNF544	1	0	0	19	58772505	58772506	63464317	63464318	Frame_Shift_Ins	INS	0	A	NM_014480.2	p.P179fs	NULL	0	0	0	Novel: Gene ZNF544 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	99	47	47	114	55	46.61	NA	NA	NA
ZNF497	1	0	0	19	58868302	58868302	63560114	63560114	Frame_Shift_Del	DEL	G	0	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
SIRPG	1	0	0	20	1629721	1629721	1577721	1577721	Frame_Shift_Del	DEL	G	0	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
TGM6	1	0	0.005	20	2378606	2378606	2326606	2326606	Nonsense_Mutation	SNP	C	T	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
VPS16	1	0	0	20	2845636	2845636	2793636	2793636	Nonsense_Mutation	SNP	C	T	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
FERMT1	1	0	0	20	6088217	6088217	6036217	6036217	Nonsense_Mutation	SNP	G	A	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
ANKRD5	1	0	0	20	10035126	10035126	9983126	9983126	Frame_Shift_Del	DEL	T	0	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
SEL1L2	1	0	0.005	20	13850786	13850786	13798786	13798786	Splice_Site	SNP	C	T	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
KIF16B	1	0	0	20	16359857	16359857	16307857	16307857	Frame_Shift_Del	DEL	A	0	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
GGTLC1	1	0	0	20	23967174	23967174	23915174	23915174	Nonsense_Mutation	SNP	G	C	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
ZNF337	1	0	0	20	25657113	25657113	25605113	25605113	Nonsense_Mutation	SNP	G	A	NM_015655.2	p.R271*	"HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667"	0	0	0	Novel: Gene ZNF337 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	266	221	45.38	240	250	50.92	8	10	55.56
MYH7B	3	0	0	20	33567562	33567563	33031223	33031224	Frame_Shift_Del	DEL	TG	0	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	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	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
EDEM2	1	0	0	20	33722687	33722687	33186348	33186348	Nonsense_Mutation	SNP	C	A	NM_018217.2	p.E186*	"HMMPfam_Glyco_hydro_47,superfamily_Seven-hairpin glycosidases"	0	0	0	Novel: Gene EDEM2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	83	81	49.39	127	117	47.95	40	12	23.08
CEP250	1	0	0	20	34060559	34060559	33523973	33523973	Nonsense_Mutation	SNP	T	A	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
CPNE1	1	0	0	20	34220291	34220292	33683705	33683706	Frame_Shift_Ins	INS	0	C	NM_003915.4	p.V114fs	"HMMSmart_C2,superfamily_C2_CaLB"	0	0	0	Novel: Gene CPNE1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	150	73	46.79	135	65	47.45	51	0	0
SAMHD1	1	0	0	20	35526867	35526867	34960281	34960281	Frame_Shift_Del	DEL	T	0	NM_015474.3	p.A529fs	NULL	0	0	0	Novel: Gene SAMHD1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	36	19	34.55	33	13	27.66	31	5	11.36
KIAA1755	1	0	0	20	36846760	36846760	36280174	36280174	Frame_Shift_Del	DEL	G	0	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
L3MBTL	1	0	0	20	42159462	42159462	41592876	41592876	Nonsense_Mutation	SNP	G	A	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
SEMG1	1	0	0	20	43836170	43836170	43269584	43269584	Nonsense_Mutation	SNP	C	T	NM_003007.3	p.Q78*	HMMPfam_Semenogelin	0	0	0	Novel: Gene SEMG1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	70	55	44	68	50	42.37	0	0	0
TP53TG5	1	0	0	20	44002653	44002653	43436067	43436067	Splice_Site	SNP	T	A	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
ZNF334	1	0	0	20	45131128	45131128	44564535	44564535	Nonsense_Mutation	SNP	G	A	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
ZNFX1	1	0	0	20	47865124	47865124	47298531	47298531	Nonsense_Mutation	SNP	G	T	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
TH1L	1	0	0	20	57566503	57566503	56999898	56999898	Splice_Site	SNP	T	C	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
CDH26	1	0	0	20	58571642	58571642	58005037	58005037	Nonsense_Mutation	SNP	G	A	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
GTPBP5	1	0	0	20	60773786	60773786	60207181	60207181	Frame_Shift_Del	DEL	G	0	NM_015666.3	p.G191fs	"HMMPfam_GTP1_OBG,superfamily_GTP1_OBG_sub"	0	0	0	Novel: Gene GTPBP5 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	29	9	23.68	18	5	21.74	NA	NA	NA
OGFR	1	0	0	20	61442922	61442922	60913367	60913367	Nonsense_Mutation	SNP	C	T	NM_007346.2	p.R192*	HMMPfam_OGFr_N	0	0	0	Novel: Gene OGFR in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	6	4	40	4	5	55.56	19	5	20.83
SLC17A9	1	0	0	20	61588822	61588822	61059267	61059267	Nonsense_Mutation	SNP	C	G	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
COL20A1	1	0	0	20	61942847	61942847	61413292	61413292	Nonsense_Mutation	SNP	C	T	NM_020882.2	p.R499*	"HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III"	0	0	0	Novel: Gene COL20A1 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	1	5	83.33	6	4	36.36	NA	NA	NA
USP25	1	0	0	21	17198543	17198544	16120414	16120415	Frame_Shift_Ins	INS	0	T	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
MRPL39	1	0	0	21	26972173	26972173	25894044	25894044	Frame_Shift_Del	DEL	A	0	NM_080794.3	p.S176fs	superfamily_ThrRS/AlaRS common domain	0	0	0	Novel: Gene MRPL39 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	17	11	37.93	40	16	28.07	7	0	0
RWDD2B	1	0	0	21	30378846	30378852	29300717	29300723	Frame_Shift_Del	DEL	AACACTG	0	NM_016940.2	p.F282fs	HMMPfam_DUF1115	0	0	0	Novel: Gene RWDD2B in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	246	45	15.41	179	28	13.53	NA	NA	NA
KRTAP27-1	1	0	0	21	31709848	31709848	30631719	30631719	Frame_Shift_Del	DEL	G	0	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
KRTAP13-1	1	0	0	21	31768461	31768470	30690332	30690341	Frame_Shift_Del	DEL	GCACTACCCA	0	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
KRTAP6-2	1	0	0	21	31971075	31971076	30892946	30892947	Frame_Shift_Ins	INS	0	A	NM_181604.1	p.Y40fs	NULL	0	0	0	Novel: Gene KRTAP6-2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0	0.03	0.01	308	123	38.92	333	141	41.11	0	0	0
CBR3	1	0	0	21	37518509	37518509	36440379	36440379	Frame_Shift_Del	DEL	A	0	NM_001236.3	p.D178fs	superfamily_NAD(P)-bd	0	0	0	Novel: Gene CBR3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	97	44	30.99	75	24	24.24	NA	NA	NA
LCA5L	1	0	0	21	40795277	40795278	39717147	39717148	Frame_Shift_Ins	INS	0	AAAA	NM_152505.3	p.K155fs	NULL	0	0	0	Novel: Gene LCA5L in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	44	17	37.78	46	9	18.37	0	0	0
MX2	1	0	0	21	42771248	42771251	41693118	41693121	Frame_Shift_Del	DEL	AACT	0	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
PRDM15	1	0	0	21	43281671	43281671	42154740	42154740	Splice_Site	SNP	C	A	NM_022115.3	e7+1	0	0	0	0	Novel: Gene PRDM15 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	27	33	55	27	24	47.06	NA	NA	NA
UMODL1	1	0	0	21	43504356	43504356	42377425	42377425	Splice_Site	SNP	G	C	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
KRTAP10-5	1	0	0	21	46000404	46000404	44824832	44824832	Nonsense_Mutation	SNP	G	A	NM_198694.2	p.R18*	NULL	rs144676844	by-1000genomes	"1000GENOMES,"	Novel: Gene KRTAP10-5 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.0142	0	0.0093	0.0013	0	0.0005	694	712	50.53	158	169	51.68	0	0	0
PRODH	1	0	0	22	18900990	18900990	17280990	17280990	Nonsense_Mutation	SNP	G	A	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
RAB36	1	0	0.005	22	23503185	23503185	21833185	21833185	Nonsense_Mutation	SNP	C	T	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
DDTL	2	0	0	22	24313531	24313532	22643531	22643532	Frame_Shift_Del	DEL	GA	0	NM_001084393.1	p.E115fs	NULL	0	0	0	Novel: Gene DDTL in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0.0026	0	0.01	169	65	27.54	163	54	24.66	9	2	16.67
DDTL	2	0	0	22	24313531	24313532	22643531	22643532	Frame_Shift_Del	DEL	GA	0	NM_001084393.1	p.E115fs	NULL	0	0	0	Novel: Gene DDTL in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0.0026	0	0.01	29	12	27.91	26	14	35	6	0	0
TFIP11	1	0	0	22	26892824	26892824	25222824	25222824	Nonsense_Mutation	SNP	G	A	NM_001008697.1	p.R490*	HMMPfam_TFP11	0	0	0	Novel: Gene TFIP11 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	18	13	41.94	14	15	51.72	37	12	24.49
CHEK2	1	X	0	22	29091857	29091857	27421857	27421857	Frame_Shift_Del	DEL	G	0	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
DUSP18	1	0	0	22	31059567	31059567	29389567	29389567	Nonsense_Mutation	SNP	G	A	NM_152511.3	p.R142*	"HMMPfam_DSPc,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II"	0	0	0	Novel: Gene DUSP18 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	12	11	47.83	16	14	46.67	20	17	45.95
SMTN	1	0	0	22	31492718	31492718	29822718	29822718	Splice_Site	SNP	G	A	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
PLA2G3	3	0	0	22	31532731	31532731	29862731	29862731	Nonsense_Mutation	SNP	C	T	NM_015715.3	p.W418*	superfamily_Phospholipase A2 PLA2	0	0	0	Novel: Gene PLA2G3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	48	34	41.46	89	93	51.1	0	0	0
PLA2G3	3	0	0	22	31536134	31536135	29866134	29866135	Frame_Shift_Ins	INS	0	T	NM_015715.3	p.S70fs	NULL	0	0	0	Novel: Gene PLA2G3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	15	7	46.67	111	53	46.09	0	0	0
PLA2G3	3	0	0	22	31536134	31536135	29866134	29866135	Frame_Shift_Ins	INS	0	T	NM_015715.3	p.S70fs	NULL	0	0	0	Novel: Gene PLA2G3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	12	7	58.33	14	8	53.33	0	0	0
RFPL2	1	0	0	22	32587341	32587341	30917341	30917341	Splice_Site	SNP	T	A	NM_006605.3	e2-2	0	0	0	0	Novel: Gene RFPL2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	0.114	0	0.0744	NA	NA	NA	19	14	42.42	21	15	41.67	NA	NA	NA
SLC5A4	4	0	0	22	32643448	32643448	30973448	30973448	Frame_Shift_Del	DEL	C	0	NM_014227.2	p.V143fs	HMMPfam_SSF	0	0	0	Novel: Gene SLC5A4 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	43	22	33.85	22	9	28.12	1	0	0
SLC5A4	4	0	0	22	32643448	32643448	30973448	30973448	Frame_Shift_Del	DEL	C	0	NM_014227.2	p.V143fs	HMMPfam_SSF	0	0	0	Novel: Gene SLC5A4 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	97	46	31.94	102	45	30.41	1	0	0
SLC5A4	4	0	0	22	32643448	32643448	30973448	30973448	Frame_Shift_Del	DEL	C	0	NM_014227.2	p.V143fs	HMMPfam_SSF	0	0	0	Novel: Gene SLC5A4 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	116	38	24.68	148	68	31.34	0	0	0
SLC5A4	4	0	0	22	32643448	32643448	30973448	30973448	Frame_Shift_Del	DEL	C	0	NM_014227.2	p.V143fs	HMMPfam_SSF	0	0	0	Novel: Gene SLC5A4 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	30	10	25	30	15	33.33	0	0	0
TOM1	1	0	0	22	35730333	35730337	34060333	34060337	Frame_Shift_Del	DEL	GCAGT	0	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
SSTR3	1	0	0	22	37603437	37603440	35933383	35933386	Frame_Shift_Del	DEL	CAGT	0	NM_001051.2	p.T135fs	"HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321"	0	0	0	Novel: Gene SSTR3 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	12	3	20	7	3	30	0	0	0
TRIOBP	1	0	0	22	38136950	38136950	36466896	36466896	Nonsense_Mutation	SNP	C	T	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
APOBEC3D	1	0	0	22	39425516	39425516	37755462	37755462	Nonsense_Mutation	SNP	C	T	NM_152426.3	p.R252*	HMMPfam_APOBEC_N	0	0	0	Novel: Gene APOBEC3D in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	9	9	50	19	24	55.81	NA	NA	NA
APOBEC3H	1	0	0	22	39497402	39497403	37827348	37827349	Frame_Shift_Ins	INS	0	G	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
ENTHD1	1	0	0	22	40161342	40161343	38491288	38491289	Frame_Shift_Del	DEL	GA	0	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
SGSM3	1	0	0	22	40802461	40802462	39132407	39132408	Frame_Shift_Ins	INS	0	A	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
POLR3H	1	0	0	22	41928155	41928156	40258101	40258102	Frame_Shift_Del	DEL	AG	0	NM_001018050.2	p.L101fs	HMMPfam_RNA_pol_Rbc25	0	0	0	Novel: Gene POLR3H in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	76	37	32.17	42	20	32.26	NA	NA	NA
MEI1	1	0	0	22	42128350	42128350	40458296	40458296	Splice_Site	SNP	T	C	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
WBP2NL	2	0	0	22	42422769	42422769	40752715	40752715	Splice_Site	SNP	G	A	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	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
SERHL2	2	0	0	22	42967125	42967125	41297069	41297069	Splice_Site	SNP	A	G	NM_014509.3	e10-2	0	0	0	0	Novel: Gene SERHL2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	91	60	39.47	58	30	34.09	6	9	60
SERHL2	2	0	0	22	42967208	42967211	41297152	41297155	Frame_Shift_Del	DEL	AAGT	0	NM_014509.3	p.K244fs	superfamily_alpha/beta-Hydrolases	0	0	0	Novel: Gene SERHL2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	60	20	25	35	13	27.08	19	0	0
MCAT	1	0	0	22	43537257	43537257	41867201	41867201	Splice_Site	SNP	T	C	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
PKDREJ	1	0	0	22	46656632	46656635	45035296	45035299	Frame_Shift_Del	DEL	ACAT	0	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
LMF2	1	0	0	22	50944221	50944221	49291087	49291087	Frame_Shift_Del	DEL	G	0	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
ODF3B	1	0	0	22	50969188	50969188	49316054	49316054	Nonsense_Mutation	SNP	G	A	NM_001014440.3	p.Q212*	NULL	0	0	0	Novel: Gene ODF3B in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	NA	NA	NA	3	4	57.14	1	6	85.71	NA	NA	NA
CHKB	1	0	0	22	51017651	51017651	49364517	49364517	Nonsense_Mutation	SNP	G	A	NM_005198.4	p.Q383*	superfamily_Protein kinase-like (PK-like)	0	0	0	Novel: Gene CHKB in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid	NA	NA	NA	NA	NA	NA	9	24	70.59	9	10	52.63	124	106	46.09
ARSA	2	0	0	22	51065593	51065593	49412459	49412459	Splice_Site	SNP	C	T	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
ARSA	2	0	0	22	51065593	51065593	49412459	49412459	Splice_Site	SNP	C	T	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
VCX3B	1	0	0	X	8434071	8434071	8394071	8394071	Splice_Site	SNP	G	C	NM_001001888.2	e2+1	0	rs5978242	unknown	"SC_SNP,"	Novel: Gene VCX3B not in Cosmic Database	Novel: Amino Acid - OMIM Gene Name Not Found	0.0316	0.146	0.052	0	0	0	6	5	45.45	1	2	66.67	0	0	0
ATXN3L	2	0	0	X	13337978	13337978	13247899	13247899	Nonsense_Mutation	SNP	C	A	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	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
MAP3K15	1	0	0	X	19392724	19392724	19302645	19302645	Nonsense_Mutation	SNP	G	A	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
DDX53	1	0	0.005	X	23019375	23019375	22929296	22929296	Nonsense_Mutation	SNP	C	T	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
DMD	1	0	0.005	X	31697705	31697705	31607626	31607626	Splice_Site	SNP	T	A	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
FAM47B	1	0	0.005	X	34962583	34962584	34872504	34872505	Frame_Shift_Ins	INS	0	C	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
ZNF674	1	0	0	X	46360423	46360423	46245367	46245367	Nonsense_Mutation	SNP	G	A	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
SSX5	1	0	0	X	48054174	48054174	47939118	47939118	Splice_Site	SNP	A	C	NM_021015.3	e3+2	0	0	0	0	Novel: Gene SSX5 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0	0	0	0	103	99.04	0	67	100	0	0	0
PLP2	1	0	0	X	49029744	49029744	48916688	48916688	Nonsense_Mutation	SNP	C	T	NM_002668.2	p.R87*	HMMPfam_MARVEL	0	0	0	Novel: Gene PLP2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0	0	0	0	34	100	0	18	100	0	89	100
GAGE2A	1	0	0	X	49355806	49355806	49242750	49242750	Nonsense_Mutation	SNP	C	T	NM_001127212.1	p.Q30*	HMMPfam_GAGE	0	0	0	Novel: Gene GAGE2A in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0	0	0	295	84	22.11	464	120	20.48	NA	NA	NA
FAM104B	2	0	0	X	55172630	55172630	55189355	55189355	Nonsense_Mutation	SNP	G	A	NM_138362.3	p.Q80*	NULL	rs113263757	unknown	"BCM-HGSC-SUB,"	Novel: Gene FAM104B in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0	0	0	199	34	14.59	251	31	10.99	9	2	18.18
FAM104B	2	0	0	X	55172630	55172630	55189355	55189355	Nonsense_Mutation	SNP	G	A	NM_138362.3	p.Q80*	NULL	rs113263757	unknown	"BCM-HGSC-SUB,"	Novel: Gene FAM104B in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0	0	0	218	54	19.85	351	84	19.31	13	0	0
EDA2R	1	0	0	X	65819442	65819442	65736167	65736167	Nonsense_Mutation	SNP	G	A	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
RAB41	1	0	0	X	69504439	69504439	69421164	69421164	Frame_Shift_Del	DEL	G	0	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
ZCCHC5	1	0	0	X	77913141	77913141	77799797	77799797	Nonsense_Mutation	SNP	A	T	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
VSIG1	1	0	0	X	107320550	107320550	107207206	107207206	Nonsense_Mutation	SNP	C	G	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
ACTRT1	2	0	0	X	127185638	127185639	127013319	127013320	Frame_Shift_Ins	INS	0	T	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	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
MST4	1	0	0	X	131188665	131188666	131016346	131016347	Frame_Shift_Del	DEL	AT	0	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
SAGE1	1	0	0.005	X	134988197	134988198	134815863	134815864	Frame_Shift_Ins	INS	0	A	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
AVPR2	1	0	0	X	153172126	153172126	152825320	152825320	Nonsense_Mutation	SNP	C	T	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
TSPY2	1	0	0	Y	6114346	6114346	6174346	6174346	Nonsense_Mutation	SNP	G	T	NM_022573.2	p.E13*	NULL	0	0	0	Novel: Gene TSPY2 in Cosmic but No Amino Acid Results for Gene	Novel: Amino Acid - OMIM Gene Name Not Found	NA	NA	NA	0	0	0	2	16	88.89	2	13	86.67	0	0	0