Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
DCLRE1B_chr1_113900326_113919086	113908017	C C	T T	stop_gained stop_gained	HIGH	NA18972.hp1 NA18972.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0001 a0009c0008t0001	a0009c0008t0001g0084 a0009c0008t0001g0084	1	444	0.0023	0	c.364 others(3): Show c.364C>T	p.Arg others(4): Show p.Arg122*	DCLRE1B	ENSG00000118655.8	transcript	ENST00000650450.2	protein_coding	3/4	625/3755	364/1599	122/532		chr1	TogoVar
DDIT4L_chr4_100180870_100195468	100187835	G G	A A	stop_gained stop_gained	HIGH	NA18953.hp2 NA18953.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0067 a0005c0007t0002g0067	1	450	0.0022	0	c.424 others(3): Show c.424C>T	p.Gln others(4): Show p.Gln142*	DDIT4L	ENSG00000145358.6	transcript	ENST00000273990.6	protein_coding	3/3	639/2604	424/582	142/193		chr4	TogoVar
DDX10_chr11_108660069_108945927	108675610	C C	T T	stop_gained stop_gained	HIGH	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0091 a0003c0014t0001g0091	1	318	0.0031	0	c.262 others(3): Show c.262C>T	p.Gln others(3): Show p.Gln88*	DDX10	ENSG00000178105.12	transcript	ENST00000322536.8	protein_coding	3/18	347/3217	262/2628	88/875		chr11	TogoVar
DDX47_chr12_12808346_12834981	12827370	C C	T T	stop_gained stop_gained	HIGH	NA18944.hp1 NA18944.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0006 a0008c0009t0001g0006	1	448	0.0022	0	c.123 others(4): Show c.1231C>T	p.Arg others(4): Show p.Arg411*	DDX47	ENSG00000213782.7	transcript	ENST00000358007.7	protein_coding	11/12	1253/1817	1231/1368	411/455		chr12	TogoVar
DDX49_chr19_18914715_18933630	18928221	C C	T T	stop_gained stop_gained	HIGH	HG01884.hp2 HG01891.hp1 HG02109.hp2 others(3): Show HG01884.hp2 HG01891.hp1 HG02109.hp2 HG02717.hp1 HG04115.hp1 NA18906.hp2	a0004 a0004	a0004c0007 a0004c0010 a0004c0007 a0004c0010	a0004c0007t0002 a0004c0010t0001 a0004c0010t0002 a0004c0007t0002 a0004c0010t0001 a0004c0010t0002	a0004c0007t0002g0042 a0004c0007t0002g0051 a0004c0007t0002g0109 others(2): Show a0004c0007t0002g0042 a0004c0007t0002g0051 a0004c0007t0002g0109 a0004c0010t0001g0001 a0004c0010t0002g0117	6	396	0.0152	0	c.135 others(4): Show c.1357C>T	p.Arg others(4): Show p.Arg453*	DDX49	ENSG00000105671.12	transcript	ENST00000247003.9	protein_coding	13/13	1384/1793	1357/1452	453/483		chr19	TogoVar
DDX56_chr7_44560804_44578908	44571668	A A	T T	stop_gained stop_gained	HIGH	NA18985.hp1 NA18985.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0043 a0005c0010t0001g0043	1	404	0.0025	0	c.714 others(3): Show c.714T>A	p.Cys others(4): Show p.Cys238*	DDX56	ENSG00000136271.11	transcript	ENST00000258772.10	protein_coding	6/14	727/1855	714/1644	238/547		chr7	TogoVar
DEF8_chr16_89943755_89973060	89961847	G G	GACTTTGA others(3): Show GACTTTGAGCC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG03490.hp1 HG03490.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0005 a0004c0007t0005	a0004c0007t0005g0046 a0004c0007t0005g0046	1	390	0.0026	10	c.791 others(17): Show c.791_800dupACTTTGAGCC	p.Arg others(5): Show p.Arg268fs	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	8/13	968/3620	801/1356	267/451	INFO_REALIGN_3_PRIME	chr16	TogoVar
DEFB109B_chr8_7307722_7325096	7312886	C C	A A	stop_gained stop_gained	HIGH	HG01192.hp1 HG03239.hp2 HG01192.hp1 HG03239.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0003 a0004c0005t0001g0003	2	376	0.0053	0	c.41C others(2): Show c.41C>A	p.Ser others(3): Show p.Ser14*	DEFB109B	ENSG00000206034.2	transcript	ENST00000382656.2	protein_coding	1/2	165/533	41/264	14/87		chr8	TogoVar
DEFB127_chr20_152454_164163	158880	C C	G G	stop_gained stop_gained	HIGH	NA18950.hp1 NA18950.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0004 a0004c0005t0003g0004	1	448	0.0022	0	c.156 others(3): Show c.156C>G	p.Tyr others(3): Show p.Tyr52*	DEFB127	ENSG00000088782.5	transcript	ENST00000382388.4	protein_coding	2/2	247/530	156/300	52/99		chr20	TogoVar
DEFB134_chr8_11988174_12005752	11994012	C C	A A	stop_gained stop_gained	HIGH	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0097 a0002c0004t0001g0097	1	446	0.0022	0	c.169 others(3): Show c.169G>T	p.Glu others(3): Show p.Glu57*	DEFB134	ENSG00000205882.9	transcript	ENST00000382205.6	protein_coding	3/3	261/1099	169/201	57/66		chr8	TogoVar
DEFB1_chr8_6865592_6882936	6870777	G G	T T	stop_gained stop_gained	HIGH	HG02970.hp2 HG02970.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0066 a0004c0008t0001g0066	1	474	0.0021	0	c.111 others(3): Show c.111C>A	p.Cys others(3): Show p.Cys37*	DEFB1	ENSG00000164825.4	transcript	ENST00000297439.4	protein_coding	2/2	190/375	111/207	37/68		chr8	TogoVar
DERL2_chr17_5466254_5491178	5480560	A A	T T	stop_gained stop_gained	HIGH	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0064 a0002c0003t0002g0064	1	426	0.0023	0	c.350 others(3): Show c.350T>A	p.Leu others(4): Show p.Leu117*	DERL2	ENSG00000072849.11	transcript	ENST00000158771.9	protein_coding	5/7	367/4167	350/720	117/239		chr17	TogoVar
DEUP1_chr11_93325742_93443470	93408306	C C	T T	stop_gained stop_gained	HIGH	HG03540.hp1 HG03540.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0003 a0008c0009t0003	a0008c0009t0003g0133 a0008c0009t0003g0133	1	366	0.0027	0	c.140 others(4): Show c.1402C>T	p.Arg others(4): Show p.Arg468*	DEUP1	ENSG00000165325.15	transcript	ENST00000298050.9	protein_coding	12/14	1477/2641	1402/1815	468/604		chr11	TogoVar
DFFA_chr1_10451522_10477529	10463536	G G	A A	stop_gained stop_gained	HIGH	HG01884.hp2 HG01884.hp2	a0006 a0006	a0006c0017 a0006c0017	a0006c0017t0005 a0006c0017t0005	a0006c0017t0005g0176 a0006c0017t0005g0176	1	436	0.0023	0	c.526 others(3): Show c.526C>T	p.Gln others(4): Show p.Gln176*	DFFA	ENSG00000160049.12	transcript	ENST00000377038.8	protein_coding	4/6	597/6035	526/996	176/331		chr1	TogoVar
DGKE_chr17_56829151_56874567	56847984	T T	G G	stop_gained stop_gained	HIGH	HG03017.hp1 HG03017.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0003 a0003c0007t0003	a0003c0007t0003g0005 a0003c0007t0003g0005	1	322	0.0031	0	c.807 others(3): Show c.807T>G	p.Tyr others(4): Show p.Tyr269*	DGKE	ENSG00000153933.10	transcript	ENST00000284061.8	protein_coding	5/12	935/8608	807/1704	269/567		chr17	TogoVar
DGKE_chr17_56829151_56874567	56862765	C C	T T	stop_gained stop_gained	HIGH	HG02615.hp1 HG02615.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0043 a0003c0010t0043	a0003c0010t0043g0107 a0003c0010t0043g0107	1	322	0.0031	0	c.167 others(4): Show c.1678C>T	p.Gln others(4): Show p.Gln560*	DGKE	ENSG00000153933.10	transcript	ENST00000284061.8	protein_coding	12/12	1806/8608	1678/1704	560/567		chr17	TogoVar
DHDH_chr19_48928699_48949969	48942517	C C	T T	stop_gained stop_gained	HIGH	HG00621.hp2 HG00738.hp2 HG01261.hp1 others(26): Show HG00621.hp2 HG00738.hp2 HG01261.hp1 HG02148.hp2 HG02258.hp1 HG02602.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG03017.hp1 HG03017.hp2 HG03225.hp1 NA18957.hp1 NA18960.hp1 NA18964.hp1 NA18972.hp2 NA18975.hp2 NA18981.hp2 NA18990.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19064.hp1 NA19066.hp1 NA19070.hp1 NA19078.hp1 NA19079.hp2 NA19084.hp2	a0004 a0013 a0014 a0004 a0013 a0014	a0004c0004 a0013c0018 a0014c0022 a0004c0004 a0013c0018 a0014c0022	a0004c0004t0001 a0013c0018t0001 a0014c0022t0001 a0004c0004t0001 a0013c0018t0001 a0014c0022t0001	a0004c0004t0001g0004 a0004c0004t0001g0022 a0004c0004t0001g0053 others(10): Show a0004c0004t0001g0004 a0004c0004t0001g0022 a0004c0004t0001g0053 a0004c0004t0001g0054 a0004c0004t0001g0055 a0004c0004t0001g0057 a0004c0004t0001g0059 a0004c0004t0001g0060 a0004c0004t0001g0061 a0004c0004t0001g0062 a0004c0004t0001g0150 a0013c0018t0001g0041 a0014c0022t0001g0056	29	434	0.0668	0	c.697 others(3): Show c.697C>T	p.Gln others(4): Show p.Gln233*	DHDH	ENSG00000104808.8	transcript	ENST00000221403.7	protein_coding	5/7	720/1064	697/1005	233/334		chr19	TogoVar
DHH_chr12_49081656_49099801	49090295	G G	T T	stop_gained stop_gained	HIGH	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0040 a0002c0003t0040	a0002c0003t0040g0096 a0002c0003t0040g0096	1	422	0.0024	0	c.755 others(3): Show c.755C>A	p.Ser others(4): Show p.Ser252*	DHH	ENSG00000139549.4	transcript	ENST00000649637.2	protein_coding	3/3	1044/4683	755/1191	252/396		chr12	TogoVar
DHRS7B_chr17_21121964_21196420	21191142	A A	T T	stop_gained stop_gained	HIGH	NA19082.hp2 NA19082.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0084 a0005c0007t0002g0084	1	380	0.0026	0	c.967 others(3): Show c.967A>T	p.Lys others(4): Show p.Lys323*	DHRS7B	ENSG00000109016.18	transcript	ENST00000395511.8	protein_coding	7/7	975/1253	967/978	323/325		chr17	TogoVar
DHX29_chr5_55251055_55312694	55289357	T T	A A	stop_gained stop_gained	HIGH	NA18997.hp2 NA18997.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0001 a0009c0016t0001	a0009c0016t0001g0259 a0009c0016t0001g0259	1	338	0.0030	0	c.979 others(3): Show c.979A>T	p.Lys others(4): Show p.Lys327*	DHX29	ENSG00000067248.11	transcript	ENST00000251636.10	protein_coding	8/27	1100/4664	979/4110	327/1369		chr5	TogoVar
DHX29_chr5_55251055_55312694	55289363	C C	A A	stop_gained stop_gained	HIGH	NA18997.hp2 NA18997.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0001 a0009c0016t0001	a0009c0016t0001g0259 a0009c0016t0001g0259	1	338	0.0030	0	c.973 others(3): Show c.973G>T	p.Glu others(4): Show p.Glu325*	DHX29	ENSG00000067248.11	transcript	ENST00000251636.10	protein_coding	8/27	1094/4664	973/4110	325/1369		chr5	TogoVar
DHX36_chr3_154267546_154329487	154276197	G G	A A	stop_gained stop_gained	HIGH	NA19064.hp1 NA19064.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0077 a0006c0012t0001g0077	1	364	0.0027	0	c.300 others(4): Show c.3001C>T	p.Arg others(5): Show p.Arg1001*	DHX36	ENSG00000174953.14	transcript	ENST00000496811.6	protein_coding	25/25	3072/6723	3001/3027	1001/1008		chr3	TogoVar
DHX57_chr2_38792729_38880934	38861560	T T	A A	stop_gained stop_gained	HIGH	HG00741.hp1 HG00741.hp1	a0009 a0009	a0009c0026 a0009c0026	a0009c0026t0002 a0009c0026t0002	a0009c0026t0002g0213 a0009c0026t0002g0213	1	282	0.0035	0	c.850 others(3): Show c.850A>T	p.Arg others(4): Show p.Arg284*	DHX57	ENSG00000163214.21	transcript	ENST00000457308.6	protein_coding	5/24	1004/4885	850/4161	284/1386		chr2	TogoVar
DIPK1C_chr18_74429775_74462308	74457200	G G	T T	stop_gained stop_gained	HIGH	NA18966.hp2 NA19054.hp2 NA18966.hp2 NA19054.hp2	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0063 a0012c0013t0001g0064 a0012c0013t0001g0063 a0012c0013t0001g0064	2	482	0.0041	0	c.60C others(2): Show c.60C>A	p.Cys others(3): Show p.Cys20*	DIPK1C	ENSG00000187773.9	transcript	ENST00000343998.8	protein_coding	1/4	109/3035	60/1260	20/419		chr18	TogoVar
DIPK2B_chrX_45143373_45205876	45154160	G G	T T	stop_gained stop_gained	HIGH	NA18943.hp1 NA18943.hp1	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0002 a0011c0011t0002	a0011c0011t0002g0052 a0011c0011t0002g0052	1	305	0.0033	0	c.711 others(3): Show c.711C>A	p.Tyr others(4): Show p.Tyr237*	DIPK2B	ENSG00000147113.17	transcript	ENST00000398000.7	protein_coding	4/5	761/4631	711/1302	237/433		chrX	TogoVar
DIS3L_chr15_66288568_66338898	66293695	C C	A A	stop_gained stop_gained	HIGH	NA18967.hp2 NA18967.hp2	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0280 a0012c0012t0001g0280	1	398	0.0025	0	c.99C others(2): Show c.99C>A	p.Cys others(3): Show p.Cys33*	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	1/17	128/3780	99/3165	33/1054		chr15	TogoVar
DISP1_chr1_222810039_223010995	223002613	A A	T T	stop_gained stop_gained	HIGH	HG02622.hp1 HG02622.hp1	a0017 a0017	a0017c0046 a0017c0046	a0017c0046t0001 a0017c0046t0001	a0017c0046t0001g0337 a0017c0046t0001g0337	1	346	0.0029	0	c.121 others(4): Show c.1216A>T	p.Lys others(4): Show p.Lys406*	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	9/9	1414/4796	1216/4575	406/1524		chr1	TogoVar
DISP1_chr1_222810039_223010995	223002651	T T	A A	stop_gained stop_gained	HIGH	HG02622.hp1 HG02622.hp1	a0017 a0017	a0017c0046 a0017c0046	a0017c0046t0001 a0017c0046t0001	a0017c0046t0001g0337 a0017c0046t0001g0337	1	346	0.0029	0	c.125 others(4): Show c.1254T>A	p.Cys others(4): Show p.Cys418*	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	9/9	1452/4796	1254/4575	418/1524		chr1	TogoVar
DISP1_chr1_222810039_223010995	223002689	T T	A A	stop_gained stop_gained	HIGH	HG02622.hp1 HG02622.hp1	a0017 a0017	a0017c0046 a0017c0046	a0017c0046t0001 a0017c0046t0001	a0017c0046t0001g0337 a0017c0046t0001g0337	1	346	0.0029	0	c.129 others(4): Show c.1292T>A	p.Leu others(4): Show p.Leu431*	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	9/9	1490/4796	1292/4575	431/1524		chr1	TogoVar
DISP1_chr1_222810039_223010995	223002715	A A	T T	stop_gained stop_gained	HIGH	HG02622.hp1 HG02622.hp1	a0017 a0017	a0017c0046 a0017c0046	a0017c0046t0001 a0017c0046t0001	a0017c0046t0001g0337 a0017c0046t0001g0337	1	346	0.0029	0	c.131 others(4): Show c.1318A>T	p.Lys others(4): Show p.Lys440*	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	9/9	1516/4796	1318/4575	440/1524		chr1	TogoVar
DISP1_chr1_222810039_223010995	223002729	T T	A A	stop_gained stop_gained	HIGH	HG02622.hp1 HG02622.hp1	a0017 a0017	a0017c0046 a0017c0046	a0017c0046t0001 a0017c0046t0001	a0017c0046t0001g0337 a0017c0046t0001g0337	1	346	0.0029	0	c.133 others(4): Show c.1332T>A	p.Tyr others(4): Show p.Tyr444*	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	9/9	1530/4796	1332/4575	444/1524		chr1	TogoVar
DISP1_chr1_222810039_223010995	223002743	T T	A A	stop_gained stop_gained	HIGH	HG02622.hp1 HG02622.hp1	a0017 a0017	a0017c0046 a0017c0046	a0017c0046t0001 a0017c0046t0001	a0017c0046t0001g0337 a0017c0046t0001g0337	1	346	0.0029	0	c.134 others(4): Show c.1346T>A	p.Leu others(4): Show p.Leu449*	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	9/9	1544/4796	1346/4575	449/1524		chr1	TogoVar
DISP1_chr1_222810039_223010995	223002750	C C	A A	stop_gained stop_gained	HIGH	HG02622.hp1 HG02622.hp1	a0017 a0017	a0017c0046 a0017c0046	a0017c0046t0001 a0017c0046t0001	a0017c0046t0001g0337 a0017c0046t0001g0337	1	346	0.0029	0	c.135 others(4): Show c.1353C>A	p.Tyr others(4): Show p.Tyr451*	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	9/9	1551/4796	1353/4575	451/1524		chr1	TogoVar
DLGAP5_chr14_55143135_55196585	55169461	G G	A A	stop_gained stop_gained	HIGH	HG02080.hp2 HG02080.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0049 a0007c0011t0001g0049	1	360	0.0028	0	c.148 others(4): Show c.1486C>T	p.Arg others(4): Show p.Arg496*	DLGAP5	ENSG00000126787.13	transcript	ENST00000247191.7	protein_coding	12/19	1610/2881	1486/2541	496/846		chr14	TogoVar
DMBT1_chr10_122555754_122648736	122600603	A A	ACCAGAAA others(4051): Show ACCAGAAACCTGATTCCTGATTGTCCCCTGGGCAGCCCCTGGTTCCCCTA ACATTTTATCTGCCAGTGTCCGAGCCTCAGCAATGGCGTCTGATGTCCTA GTCAGTCCATGCATCAGCAGATGTGGGATGGCATGGTGGGGGCATCCTCT AAGAGATAGAAAGATACCCCAGGATTAGAGAAATGGAGGGCTCAGTCTGG TCTCCAGCAGGACCTTTGTCCGTGGATGAGTTCACAGCAGAGGAGACCTG GGAAGACACATGGGAAGCAAGTGGCAGGAACAGGAAGTGGAATTGTTGCC AGGTGGATTCCCCCTCCCAGAGAACCTTTTGTTCTGCACCTTTTCCCTTC AAGTCTAATTCTGTCTTTTCCTTTGTTGCAATTTACAGACACTTGGCCAA CCTCACATGCATCAACAGCAGGTAAATAATCCTCTCACCCCTCCCTAGGG CTCACTGTCTCTGGACATATTTTGTGTTTGAAACTGATAGGATGAGGCTC AAGGTGGGCCCCTCTTTTTTCACTCCCCTGTGGGTTGCGTGGGAGGAAGG TGGAATCTCTGAGGAGCCAGTGCTGGGTCTGATGTTTGAGGATGGAGGGT GCTGGTGACTGTCTCCCATGGAATCCTGTTCCAAGTGGTCAGGAAAGATC CTCATCCAGGTGCTCAGGATGAGCACTGGAGGGCTCCTTAATCCTACTGG GACCTCGTTCCTGGCCCTCAGGCCATGGGATCCAGATCTCTGAAGAGCAG GTGAAAGTGCCAGTCTCTGCACTTGTGTGGCCAAGGTCTTGCCATCACTG GCAAATTGCCAGAAGGCAGAGAGGACCATGCAGGTGCCAATGAGCTCCTG AATTCGGAGGGGGTCTGGGCTTGTCATTTGTAGCTGTGTATCTCCATCCT TTGTGTACCCAGAGTGGGGAATGGGGTGTCCATTCCTGTCCCCTCCTCTG GGGTCATACATGCTTACCCATAGCTTGAGCTTTTATAGACTTGAGTAGAA TAGGGCATCACTTTTTCCACTATGACAAAGCTTAACCTCTGGGTGCAGCT ATCTTCCATCATGACTGCATGCCCTGGTGACTTCTGCATTCGTATTGAAA CTTGACTACTTTGCCCACTGCCCTGATTGTTGTCCATGCCTTATCCTTGA CCTCATATTTGAGATGGATGAAGCGTTCTTGTGTTCCCCTGTAGGATCTG AATCCAGTTTGGCCCTGAGGCTGGTGAATGGAGGTGACAGGTGTCAGGGC CGAGTGGAGGTCCTATACCGAGGCTCCTGGGGCACCGTGTGTGATGACTA CTGGGACACCAATGATGCCAATGTGGTTTGCAGGCAGCTGGGCTGTGGCT GGGCCACGTCAGCCCCAGGAAATGCCCGGTTTGGCCAGGGTTCAGGACCC ATTGTCCTGGATGATGTGCGCTGCTCAGGACATGAGTCCTATCTGTGGAG CTGCCCCCACAATGGCTGGCTCTCCCACAACTGTGGCCATCATGAAGACG CTGGTGTCATCTGCTCAGGTGGGCCTCCAAGACCTTCGGCTCCCTCTCCT AGGTTGGAGTTTGCTCAGGAAGAAAATCCTAATTACATTATGATCTCCTC TGAACTCACAGATTCTTCTATGTTTCTTGTATTTATGCAGTCTTGTTAGC TCCCTGCTAAGAATCTGTATGAATTTTGCTACAGCGGTTGGTGTTCATGT GGTCACTTAGGACAGGGGACCAAAGTCAAACAACAACCCAGACTTTATCC CCTTCCTGAGGCAGTGCAAGGAAGAGGCAGAAGAGAAAACTGCTGGCTCC CCAGGGCTCCATTTCTTCCCTGCTGAGTAGCAGTGGTTGAGGGTATCATG GACATAGGACAGACAGCGGGGCAGAGGAGGGATCCTCTCACTGTGAGGAA CTCTGAACCAAAGATGCTTGTCTGGAAGTGGGTTCTCAGCTGAGACCCAG TGAGGAGGTCTGGAAACAGAGGCTCAAGGGTTAGGAGTGCAAAATGGGTG TCTGGTTCTATCAGGCCTGGGTTGTGTGAGGTTGGAGTCCTTGACCTCAG GTCCTCTCAGAACGCTGCAGAGCACTGCCTTGCCCTGGGTCTGGTGTGGG GAGGGCAGCCCCCATGAGACTGGCCAGGCTTGGCCTCATTATTGCCTGTG GTCGGGGCTTGAAGATCACACAAGGGATTTTGGCTGGAGTGGCTTCCTCA GCCTTGCTGACTCAGGAACACTTAAGATGTGCAAGGGAGTGGGTTGGTTT AGGTCAACTGGGTTACCCTGCGCAGACACAATTTGATCTCCTCAGAGCTG GCAATAGTGGACAGGATCTGCCTCAACCCCTTACACGGTGCATCTCTGTG GGGATGTGCATGGCAATGTCCCTCCCTGTGTGATAGGAACTAGGATGGAC TGAGTGTCAGACTCGCCCATTTCTTTCCCTCCTCATTCCAGTTTTGTCGA CTTCTGTGTAACATTCCTGATCTGACCTTCTCTTCTCTTTCTCACAGCTT CCCAGTCCCAGCCGACACCCAGCCCAGGTAAGTTCCCAGTGTCCTTCCTC AAAATGTCCCTTCTCTTTCTGCCCAATCACCCCTTCCCCACTCCACAGAG CTCTCCTGTTTCTCTGTGTGGATACTGTGGGGCATATTATTTCTACCGCC ACCACCGGCTGTATTTCACATGGGTCCTTTTCTATTTTCCCTAAGTGTCA GCCGGTCTGAGAAATAAAGGGAAGGCATACAAAAGAGCAAAATTTTAAAG CTGGGTGTTGGGGGGAGACATCACATGTCAGCAGGTTCCGTGATCCCTCC TGAGTAGCAAAACCAGCAAGTTTTTATTGGTGATTTTCAAAAGGGGAGGG AGTGCACAAATAGGGTGTGGGTCACAGAGATCACATCCTTCACAAGGTAA TAAAATATCACAAGGTAAATGGAGGCAGGGCAAGATCACAGGACTGGGGT GAAATTAAAATTGCTAATGAAGTTTCGGGCACGCATTGTCATTGAAAACA TTTTATCAGGAGACAGGGTTTGAGAGCAGACAACTGGTCTGACCAAAATT TATTAGGAGGCAATTTCCTCATCCTAATAAGCCTGGAAGCGCTACGGGGG ACCGGGGCTTATTTCATCCCTTATCTGTAAGCGTAAAAGACAGACGTTCC CAAAGCGGCCATTTCAGAGGCCTCCCCTTAGGAACACATTCTCTTTCTCA GGGATGTTCCTTGCTGAGAAAAGGAATTCAGCGATATTTCTCCTATTTGC TTTTGAAGGAAGAGAAATGTGGCTCTGTTCTGCCTGGCCCACAGGCAGCC AGCCTTTAAGGTTATCTCCCTTGTTCCCTGAACAACGCTGTTATCCTGTT CTTTTTTCACAGTGCCCAGATTTCATATTGTTTAAACAATTTCTGCAGTT AACGCAATCATCACAGGGTCCTGAGGTGACATTCATCCTCAGTTTATGAA GAAGATGGGATTAAGAGATTAAAGTAAAGACAGGCATAGGAAATCACAAG AGTATTGATTGGGGAAGTGATAAGTGTCCATGAAATCTTCACAATTTATG TTCAGAGATTGCAGTAAAGACAGGCGTAAGAAATTATAAAAATATTAATT TGGGGAACTAATAAATGTCCATGAAATCTTCAAATTTATGTTCTTGTGCC ATGGCCTCAGCCGGTCCCTCTGTTTGGGGTCCCTGACTTCCCGCAACACA GCACAGTGCTTTGAAAACACACATAGGATTCAGGAGGCCTCTGTCTTCTT TTCAACCCCTCTCAGCTTTCATGAAACAGTTTCATACTGTCCCAGTGGAC AGCCCTTACAGGTTCAGGAAGTGGCCCCATGTTTAATGAGTTTTGGTCCT TTTATATTCAGGACTCACATATAGTTTCGAAAATTGAGGGTGTCACCCTC TGACCTGTTCAAGGCATTGTCAGGGCAGGCTCGATACCCCCATCCATCAC TGCTGGAAAAATTCTGAGATTATGATGGACCACATTTGTATCCAGAAGAG GCAGGGTTTGTGCTTGGGCAGGGAAAGGGATAATAAAGGTTTGTAGTGTC TCTGCTTAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00544.hp1 NA19090.hp2 HG00544.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0004 a0001c0001t0002 a0001c0002t0004	a0001c0001t0002g0199 a0001c0002t0004g0198 a0001c0001t0002g0199 a0001c0002t0004g0198	2	278	0.0072	4058	c.350 others(4067): Show c.3505_3506insCGTCAGCCCCAGGAAATGCCCGGTTTGGCCAGGGTT CAGGACCCATTGTCCTGGATGATGTGCGCTGCTCAGGACATGAGTCCTAT CTGTGGAGCTGCCCCCACAATGGCTGGCTCTCCCACAACTGTGGCCATCA TGAAGACGCTGGTGTCATCTGCTCAGGTGGGCCTCCAAGACCTTCGGCTC CCTCTCCTAGGTTGGAGTTTGCTCAGGAAGAAAATCCTAATTACATTATG ATCTCCTCTGAACTCACAGATTCTTCTATGTTTCTTGTATTTATGCAGTC TTGTTAGCTCCCTGCTAAGAATCTGTATGAATTTTGCTACAGCGGTTGGT GTTCATGTGGTCACTTAGGACAGGGGACCAAAGTCAAACAACAACCCAGA CTTTATCCCCTTCCTGAGGCAGTGCAAGGAAGAGGCAGAAGAGAAAACTG CTGGCTCCCCAGGGCTCCATTTCTTCCCTGCTGAGTAGCAGTGGTTGAGG GTATCATGGACATAGGACAGACAGCGGGGCAGAGGAGGGATCCTCTCACT GTGAGGAACTCTGAACCAAAGATGCTTGTCTGGAAGTGGGTTCTCAGCTG AGACCCAGTGAGGAGGTCTGGAAACAGAGGCTCAAGGGTTAGGAGTGCAA AATGGGTGTCTGGTTCTATCAGGCCTGGGTTGTGTGAGGTTGGAGTCCTT GACCTCAGGTCCTCTCAGAACGCTGCAGAGCACTGCCTTGCCCTGGGTCT GGTGTGGGGAGGGCAGCCCCCATGAGACTGGCCAGGCTTGGCCTCATTAT TGCCTGTGGTCGGGGCTTGAAGATCACACAAGGGATTTTGGCTGGAGTGG CTTCCTCAGCCTTGCTGACTCAGGAACACTTAAGATGTGCAAGGGAGTGG GTTGGTTTAGGTCAACTGGGTTACCCTGCGCAGACACAATTTGATCTCCT CAGAGCTGGCAATAGTGGACAGGATCTGCCTCAACCCCTTACACGGTGCA TCTCTGTGGGGATGTGCATGGCAATGTCCCTCCCTGTGTGATAGGAACTA GGATGGACTGAGTGTCAGACTCGCCCATTTCTTTCCCTCCTCATTCCAGT TTTGTCGACTTCTGTGTAACATTCCTGATCTGACCTTCTCTTCTCTTTCT CACAGCTTCCCAGTCCCAGCCGACACCCAGCCCAGGTAAGTTCCCAGTGT CCTTCCTCAAAATGTCCCTTCTCTTTCTGCCCAATCACCCCTTCCCCACT CCACAGAGCTCTCCTGTTTCTCTGTGTGGATACTGTGGGGCATATTATTT CTACCGCCACCACCGGCTGTATTTCACATGGGTCCTTTTCTATTTTCCCT AAGTGTCAGCCGGTCTGAGAAATAAAGGGAAGGCATACAAAAGAGCAAAA TTTTAAAGCTGGGTGTTGGGGGGAGACATCACATGTCAGCAGGTTCCGTG ATCCCTCCTGAGTAGCAAAACCAGCAAGTTTTTATTGGTGATTTTCAAAA GGGGAGGGAGTGCACAAATAGGGTGTGGGTCACAGAGATCACATCCTTCA CAAGGTAATAAAATATCACAAGGTAAATGGAGGCAGGGCAAGATCACAGG ACTGGGGTGAAATTAAAATTGCTAATGAAGTTTCGGGCACGCATTGTCAT TGAAAACATTTTATCAGGAGACAGGGTTTGAGAGCAGACAACTGGTCTGA CCAAAATTTATTAGGAGGCAATTTCCTCATCCTAATAAGCCTGGAAGCGC TACGGGGGACCGGGGCTTATTTCATCCCTTATCTGTAAGCGTAAAAGACA GACGTTCCCAAAGCGGCCATTTCAGAGGCCTCCCCTTAGGAACACATTCT CTTTCTCAGGGATGTTCCTTGCTGAGAAAAGGAATTCAGCGATATTTCTC CTATTTGCTTTTGAAGGAAGAGAAATGTGGCTCTGTTCTGCCTGGCCCAC AGGCAGCCAGCCTTTAAGGTTATCTCCCTTGTTCCCTGAACAACGCTGTT ATCCTGTTCTTTTTTCACAGTGCCCAGATTTCATATTGTTTAAACAATTT CTGCAGTTAACGCAATCATCACAGGGTCCTGAGGTGACATTCATCCTCAG TTTATGAAGAAGATGGGATTAAGAGATTAAAGTAAAGACAGGCATAGGAA ATCACAAGAGTATTGATTGGGGAAGTGATAAGTGTCCATGAAATCTTCAC AATTTATGTTCAGAGATTGCAGTAAAGACAGGCGTAAGAAATTATAAAAA TATTAATTTGGGGAACTAATAAATGTCCATGAAATCTTCAAATTTATGTT CTTGTGCCATGGCCTCAGCCGGTCCCTCTGTTTGGGGTCCCTGACTTCCC GCAACACAGCACAGTGCTTTGAAAACACACATAGGATTCAGGAGGCCTCT GTCTTCTTTTCAACCCCTCTCAGCTTTCATGAAACAGTTTCATACTGTCC CAGTGGACAGCCCTTACAGGTTCAGGAAGTGGCCCCATGTTTAATGAGTT TTGGTCCTTTTATATTCAGGACTCACATATAGTTTCGAAAATTGAGGGTG TCACCCTCTGACCTGTTCAAGGCATTGTCAGGGCAGGCTCGATACCCCCA TCCATCACTGCTGGAAAAATTCTGAGATTATGATGGACCACATTTGTATC CAGAAGAGGCAGGGTTTGTGCTTGGGCAGGGAAAGGGATAATAAAGGTTT GTAGTGTCTCTGCTTAGCCAGAAACCTGATTCCTGATTGTCCCCTGGGCA GCCCCTGGTTCCCCTAACATTTTATCTGCCAGTGTCCGAGCCTCAGCAAT GGCGTCTGATGTCCTAGTCAGTCCATGCATCAGCAGATGTGGGATGGCAT GGTGGGGGCATCCTCTAAGAGATAGAAAGATACCCCAGGATTAGAGAAAT GGAGGGCTCAGTCTGGTCTCCAGCAGGACCTTTGTCCGTGGATGAGTTCA CAGCAGAGGAGACCTGGGAAGACACATGGGAAGCAAGTGGCAGGAACAGG AAGTGGAATTGTTGCCAGGTGGATTCCCCCTCCCAGAGAACCTTTTGTTC TGCACCTTTTCCCTTCAAGTCTAATTCTGTCTTTTCCTTTGTTGCAATTT ACAGACACTTGGCCAACCTCACATGCATCAACAGCAGGTAAATAATCCTC TCACCCCTCCCTAGGGCTCACTGTCTCTGGACATATTTTGTGTTTGAAAC TGATAGGATGAGGCTCAAGGTGGGCCCCTCTTTTTTCACTCCCCTGTGGG TTGCGTGGGAGGAAGGTGGAATCTCTGAGGAGCCAGTGCTGGGTCTGATG TTTGAGGATGGAGGGTGCTGGTGACTGTCTCCCATGGAATCCTGTTCCAA GTGGTCAGGAAAGATCCTCATCCAGGTGCTCAGGATGAGCACTGGAGGGC TCCTTAATCCTACTGGGACCTCGTTCCTGGCCCTCAGGCCATGGGATCCA GATCTCTGAAGAGCAGGTGAAAGTGCCAGTCTCTGCACTTGTGTGGCCAA GGTCTTGCCATCACTGGCAAATTGCCAGAAGGCAGAGAGGACCATGCAGG TGCCAATGAGCTCCTGAATTCGGAGGGGGTCTGGGCTTGTCATTTGTAGC TGTGTATCTCCATCCTTTGTGTACCCAGAGTGGGGAATGGGGTGTCCATT CCTGTCCCCTCCTCTGGGGTCATACATGCTTACCCATAGCTTGAGCTTTT ATAGACTTGAGTAGAATAGGGCATCACTTTTTCCACTATGACAAAGCTTA ACCTCTGGGTGCAGCTATCTTCCATCATGACTGCATGCCCTGGTGACTTC TGCATTCGTATTGAAACTTGACTACTTTGCCCACTGCCCTGATTGTTGTC CATGCCTTATCCTTGACCTCATATTTGAGATGGATGAAGCGTTCTTGTGT TCCCCTGTAGGATCTGAATCCAGTTTGGCCCTGAGGCTGGTGAATGGAGG TGACAGGTGTCAGGGCCGAGTGGAGGTCCTATACCGAGGCTCCTGGGGCA CCGTGTGTGATGACTACTGGGACACCAATGATGCCAATGTGGTTTGCAGG CAGCTGGGCTGTGGCTGGGCCA	p.Met others(6): Show p.Met1169fs	DMBT1	ENSG00000187908.20	transcript	ENST00000338354.10	protein_coding	29/56	3523/7984	3506/7629	1169/2542	INFO_REALIGN_3_PRIME	chr10	TogoVar
DMBT1_chr10_122555754_122648736	122630430	C C	T T	stop_gained stop_gained	HIGH	NA19056.hp1 NA19056.hp1	a0049 a0049	a0049c0049 a0049c0049	a0049c0049t0002 a0049c0049t0002	a0049c0049t0002g0114 a0049c0049t0002g0114	1	280	0.0036	0	c.596 others(4): Show c.5965C>T	p.Arg others(5): Show p.Arg1989*	DMBT1	ENSG00000187908.20	transcript	ENST00000338354.10	protein_coding	48/56	5982/7984	5965/7629	1989/2542		chr10	TogoVar
DMGDH_chr5_78992564_79074674	79044442	G G	A A	stop_gained stop_gained	HIGH	NA18997.hp2 NA18997.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0001 a0009c0016t0001	a0009c0016t0001g0167 a0009c0016t0001g0167	1	370	0.0027	0	c.856 others(3): Show c.856C>T	p.Arg others(4): Show p.Arg286*	DMGDH	ENSG00000132837.15	transcript	ENST00000255189.8	protein_coding	6/16	910/3173	856/2601	286/866		chr5	TogoVar
DMRTC2_chr19_41840042_41857333	41850625	C C	T T	stop_gained stop_gained	HIGH	NA18940.hp1 NA18940.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0003 a0005c0007t0001g0003	1	400	0.0025	0	c.916 others(3): Show c.916C>T	p.Gln others(4): Show p.Gln306*	DMRTC2	ENSG00000142025.16	transcript	ENST00000269945.8	protein_coding	8/9	980/1805	916/1104	306/367		chr19	TogoVar
DNAAF4_chr15_55425308_55513234	55430684	C C	A A	stop_gained stop_gained	HIGH	HG00642.hp2 HG00738.hp2 HG01069.hp1 others(50): Show HG00642.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01167.hp2 HG01169.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18989.hp1 NA19030.hp1 NA19240.hp2 NA20805.hp2	a0004 a0005 a0004 a0005	a0004c0005 a0004c0007 a0005c0004 a0004c0005 a0004c0007 a0005c0004	a0004c0005t0001 a0004c0005t0002 a0004c0005t0003 others(5): Show a0004c0005t0001 a0004c0005t0002 a0004c0005t0003 a0004c0005t0005 a0004c0005t0007 a0004c0007t0003 a0005c0004t0003 a0005c0004t0005	a0004c0005t0001g0123 a0004c0005t0001g0211 a0004c0005t0001g0295 others(50): Show a0004c0005t0001g0123 a0004c0005t0001g0211 a0004c0005t0001g0295 a0004c0005t0002g0273 a0004c0005t0002g0274 a0004c0005t0002g0275 a0004c0005t0002g0276 a0004c0005t0002g0277 a0004c0005t0002g0278 a0004c0005t0002g0279 a0004c0005t0002g0280 a0004c0005t0002g0281 a0004c0005t0003g0253 a0004c0005t0003g0254 a0004c0005t0003g0255 a0004c0005t0003g0297 a0004c0005t0003g0299 a0004c0005t0003g0300 a0004c0005t0003g0301 a0004c0005t0003g0302 a0004c0005t0005g0285 a0004c0005t0005g0286 a0004c0005t0005g0287 a0004c0005t0005g0288 a0004c0005t0007g0284 a0004c0005t0007g0289 a0004c0007t0003g0298 a0005c0004t0003g0067 a0005c0004t0003g0257 a0005c0004t0003g0258 a0005c0004t0003g0259 a0005c0004t0003g0282 a0005c0004t0003g0283 a0005c0004t0003g0319 a0005c0004t0003g0320 a0005c0004t0003g0321 a0005c0004t0003g0322 a0005c0004t0003g0323 a0005c0004t0003g0324 a0005c0004t0003g0325 a0005c0004t0003g0326 a0005c0004t0003g0327 a0005c0004t0003g0328 a0005c0004t0003g0329 a0005c0004t0003g0330 a0005c0004t0003g0331 a0005c0004t0003g0332 a0005c0004t0003g0333 a0005c0004t0003g0334 a0005c0004t0003g0335 a0005c0004t0003g0336 a0005c0004t0003g0337 a0005c0004t0005g0256	53	336	0.1577	0	c.124 others(4): Show c.1249G>T	p.Glu others(4): Show p.Glu417*	DNAAF4	ENSG00000256061.7	transcript	ENST00000321149.7	protein_coding	10/10	1617/1993	1249/1263	417/420		chr15	TogoVar
DNAH11_chr7_21538039_21906839	21543345	G G	T T	stop_gained stop_gained	HIGH	HG00099.hp2 HG00323.hp2 HG00423.hp1 others(104): Show HG00099.hp2 HG00323.hp2 HG00423.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01168.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp2 HG04115.hp2 NA18939.hp1 NA18942.hp2 NA18945.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18992.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19057.hp2 NA19066.hp2 NA19074.hp2 NA19077.hp1 NA19084.hp2 NA19085.hp2 NA19091.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp2	a0006 a0007 a0011 others(81): Show a0006 a0007 a0011 a0013 a0018 a0020 a0021 a0024 a0027 a0029 a0030 a0031 a0037 a0038 a0039 a0041 a0043 a0045 a0048 a0050 a0055 a0058 a0059 a0062 a0064 a0069 a0070 a0071 a0072 a0074 a0077 a0078 a0079 a0080 a0082 a0083 a0090 a0091 a0097 a0100 a0106 a0111 a0112 a0117 a0118 a0120 a0121 a0122 a0123 a0124 a0126 a0128 a0129 a0131 a0135 a0136 a0138 a0140 a0141 a0142 a0143 a0145 a0146 a0149 a0154 a0156 a0160 a0165 a0167 a0169 a0172 a0180 a0183 a0185 a0187 a0189 a0194 a0208 a0210 a0214 a0217 a0219 a0221 a0224	a0006c0214 a0006c0262 a0006c0266 others(98): Show a0006c0214 a0006c0262 a0006c0266 a0006c0272 a0007c0210 a0007c0212 a0007c0217 a0007c0270 a0011c0016 a0011c0199 a0013c0268 a0013c0271 a0013c0277 a0018c0017 a0018c0202 a0020c0224 a0020c0226 a0021c0244 a0021c0267 a0024c0218 a0024c0263 a0027c0019 a0029c0018 a0030c0021 a0031c0229 a0031c0237 a0037c0198 a0037c0203 a0038c0020 a0039c0253 a0039c0254 a0041c0222 a0041c0223 a0043c0264 a0045c0234 a0048c0233 a0050c0274 a0055c0191 a0058c0219 a0059c0273 a0062c0193 a0064c0197 a0069c0247 a0070c0236 a0071c0238 a0072c0189 a0074c0215 a0077c0187 a0078c0265 a0079c0269 a0080c0227 a0082c0200 a0083c0228 a0090c0239 a0091c0243 a0097c0216 a0100c0276 a0106c0220 a0111c0241 a0112c0192 a0117c0196 a0118c0251 a0120c0245 a0121c0190 a0122c0256 a0123c0246 a0124c0257 a0126c0232 a0128c0248 a0129c0183 a0131c0201 a0135c0221 a0136c0261 a0138c0258 a0140c0185 a0141c0240 a0142c0211 a0143c0194 a0145c0186 a0146c0259 a0149c0260 a0154c0250 a0156c0184 a0160c0231 a0165c0205 a0167c0188 a0169c0206 a0172c0255 a0180c0225 a0183c0249 a0185c0213 a0187c0230 a0189c0209 a0194c0207 a0208c0204 a0210c0195 a0214c0275 a0217c0242 a0219c0208 a0221c0252 a0224c0235	a0006c0214t0006 a0006c0262t0001 a0006c0266t0005 others(99): Show a0006c0214t0006 a0006c0262t0001 a0006c0266t0005 a0006c0272t0001 a0007c0210t0001 a0007c0212t0001 a0007c0217t0001 a0007c0270t0006 a0011c0016t0003 a0011c0199t0003 a0013c0268t0002 a0013c0271t0002 a0013c0277t0002 a0018c0017t0011 a0018c0202t0006 a0020c0224t0001 a0020c0226t0001 a0021c0244t0003 a0021c0267t0005 a0024c0218t0002 a0024c0263t0002 a0027c0019t0003 a0029c0018t0001 a0030c0021t0002 a0030c0021t0004 a0031c0229t0005 a0031c0237t0005 a0037c0198t0002 a0037c0203t0002 a0038c0020t0006 a0039c0253t0003 a0039c0254t0003 a0041c0222t0002 a0041c0223t0002 a0043c0264t0005 a0045c0234t0005 a0048c0233t0002 a0050c0274t0003 a0055c0191t0003 a0058c0219t0001 a0059c0273t0016 a0062c0193t0004 a0064c0197t0004 a0069c0247t0002 a0070c0236t0002 a0071c0238t0003 a0072c0189t0019 a0074c0215t0003 a0077c0187t0022 a0078c0265t0003 a0079c0269t0004 a0080c0227t0003 a0082c0200t0001 a0083c0228t0003 a0090c0239t0003 a0091c0243t0002 a0097c0216t0003 a0100c0276t0012 a0106c0220t0001 a0111c0241t0001 a0112c0192t0005 a0117c0196t0021 a0118c0251t0004 a0120c0245t0005 a0121c0190t0024 a0122c0256t0007 a0123c0246t0001 a0124c0257t0007 a0126c0232t0003 a0128c0248t0001 a0129c0183t0004 a0131c0201t0003 a0135c0221t0001 a0136c0261t0007 a0138c0258t0007 a0140c0185t0001 a0141c0240t0004 a0142c0211t0001 a0143c0194t0001 a0145c0186t0001 a0146c0259t0007 a0149c0260t0015 a0154c0250t0002 a0156c0184t0001 a0160c0231t0005 a0165c0205t0001 a0167c0188t0003 a0169c0206t0004 a0172c0255t0002 a0180c0225t0002 a0183c0249t0002 a0185c0213t0003 a0187c0230t0010 a0189c0209t0002 a0194c0207t0002 a0208c0204t0002 a0210c0195t0002 a0214c0275t0002 a0217c0242t0001 a0219c0208t0006 a0221c0252t0001 a0224c0235t0001	a0006c0214t0006g0174 a0006c0262t0001g0139 a0006c0266t0005g0137 others(104): Show a0006c0214t0006g0174 a0006c0262t0001g0139 a0006c0266t0005g0137 a0006c0272t0001g0185 a0007c0210t0001g0209 a0007c0212t0001g0214 a0007c0217t0001g0182 a0007c0270t0006g0148 a0011c0016t0003g0171 a0011c0016t0003g0172 a0011c0199t0003g0141 a0013c0268t0002g0150 a0013c0271t0002g0153 a0013c0277t0002g0155 a0018c0017t0011g0169 a0018c0017t0011g0170 a0018c0202t0006g0162 a0020c0224t0001g0218 a0020c0226t0001g0136 a0021c0244t0003g0180 a0021c0267t0005g0186 a0024c0218t0002g0130 a0024c0263t0002g0140 a0027c0019t0003g0156 a0027c0019t0003g0190 a0029c0018t0001g0128 a0029c0018t0001g0157 a0030c0021t0002g0144 a0030c0021t0004g0152 a0031c0229t0005g0207 a0031c0237t0005g0201 a0037c0198t0002g0143 a0037c0203t0002g0161 a0038c0020t0006g0138 a0038c0020t0006g0145 a0039c0253t0003g0179 a0039c0254t0003g0177 a0041c0222t0002g0181 a0041c0223t0002g0178 a0043c0264t0005g0146 a0045c0234t0005g0212 a0048c0233t0002g0205 a0050c0274t0003g0184 a0055c0191t0003g0189 a0058c0219t0001g0223 a0059c0273t0016g0149 a0062c0193t0004g0188 a0064c0197t0004g0175 a0069c0247t0002g0166 a0070c0236t0002g0213 a0071c0238t0003g0193 a0072c0189t0019g0196 a0074c0215t0003g0202 a0077c0187t0022g0187 a0078c0265t0003g0147 a0079c0269t0004g0151 a0080c0227t0003g0135 a0082c0200t0001g0134 a0083c0228t0003g0191 a0090c0239t0003g0216 a0091c0243t0002g0195 a0097c0216t0003g0158 a0100c0276t0012g0154 a0106c0220t0001g0200 a0111c0241t0001g0194 a0112c0192t0005g0197 a0117c0196t0021g0168 a0118c0251t0004g0198 a0120c0245t0005g0127 a0121c0190t0024g0219 a0122c0256t0007g0221 a0123c0246t0001g0232 a0124c0257t0007g0222 a0126c0232t0003g0208 a0128c0248t0001g0231 a0129c0183t0004g0211 a0131c0201t0003g0131 a0135c0221t0001g0233 a0136c0261t0007g0227 a0138c0258t0007g0228 a0140c0185t0001g0224 a0141c0240t0004g0132 a0142c0211t0001g0230 a0143c0194t0001g0159 a0145c0186t0001g0210 a0146c0259t0007g0220 a0149c0260t0015g0226 a0154c0250t0002g0133 a0156c0184t0001g0225 a0160c0231t0005g0192 a0165c0205t0001g0229 a0167c0188t0003g0215 a0169c0206t0004g0173 a0172c0255t0002g0160 a0180c0225t0002g0204 a0183c0249t0002g0217 a0185c0213t0003g0142 a0187c0230t0010g0203 a0189c0209t0002g0163 a0194c0207t0002g0165 a0208c0204t0002g0164 a0210c0195t0002g0167 a0214c0275t0002g0183 a0217c0242t0001g0129 a0219c0208t0006g0176 a0221c0252t0001g0199 a0224c0235t0001g0206	107	296	0.3615	0	c.100 others(3): Show c.100G>T	p.Glu others(3): Show p.Glu34*	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	1/82	307/14343	100/13551	34/4516		chr7	TogoVar
DNAH12_chr3_57288700_57549344	57366883	C C	A A	stop_gained stop_gained	HIGH	NA18940.hp2 NA18940.hp2	a0060 a0060	a0060c0070 a0060c0070	a0060c0070t0001 a0060c0070t0001	a0060c0070t0001g0096 a0060c0070t0001g0096	1	264	0.0038	0	c.901 others(4): Show c.9013G>T	p.Glu others(5): Show p.Glu3005*	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	57/74	9194/12145	9013/11883	3005/3960		chr3	TogoVar
DNAH12_chr3_57288700_57549344	57386555	A A	T T	stop_gained stop_gained	HIGH	NA18940.hp1 NA18940.hp1	a0059 a0059	a0059c0052 a0059c0052	a0059c0052t0001 a0059c0052t0001	a0059c0052t0001g0239 a0059c0052t0001g0239	1	264	0.0038	0	c.748 others(4): Show c.7488T>A	p.Tyr others(5): Show p.Tyr2496*	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	47/74	7669/12145	7488/11883	2496/3960		chr3	TogoVar
DNAH14_chr1_224924675_225404286	224952757	G G	T T	stop_gained stop_gained	HIGH	HG03195.hp1 HG03540.hp1 NA18522.hp1 others(1): Show HG03195.hp1 HG03540.hp1 NA18522.hp1 NA20129.hp2	a0011 a0011	a0011c0036 a0011c0122 a0011c0123 a0011c0036 a0011c0122 a0011c0123	a0011c0036t0001 a0011c0122t0001 a0011c0123t0001 a0011c0036t0001 a0011c0122t0001 a0011c0123t0001	a0011c0036t0001g0214 a0011c0036t0001g0215 a0011c0122t0001g0213 others(1): Show a0011c0036t0001g0214 a0011c0036t0001g0215 a0011c0122t0001g0213 a0011c0123t0001g0216	4	238	0.0168	0	c.55G others(2): Show c.55G>T	p.Glu others(3): Show p.Glu19*	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	2/86	249/14065	55/13854	19/4617		chr1	TogoVar
DNAH14_chr1_224924675_225404286	225159460	T T	A A	stop_gained stop_gained	HIGH	NA19003.hp1 NA19003.hp1	a0101 a0101	a0101c0091 a0101c0091	a0101c0091t0001 a0101c0091t0001	a0101c0091t0001g0165 a0101c0091t0001g0165	1	238	0.0042	0	c.542 others(4): Show c.5420T>A	p.Leu others(5): Show p.Leu1807*	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	35/86	5614/14065	5420/13854	1807/4617		chr1	TogoVar
DNAH7_chr2_195732703_196073837	196047389	G G	A A	stop_gained stop_gained	HIGH	HG01928.hp2 HG01928.hp2	a0024 a0024	a0024c0070 a0024c0070	a0024c0070t0003 a0024c0070t0003	a0024c0070t0003g0108 a0024c0070t0003g0108	1	254	0.0039	0	c.361 others(3): Show c.361C>T	p.Arg others(4): Show p.Arg121*	DNAH7	ENSG00000118997.14	transcript	ENST00000312428.11	protein_coding	5/65	487/12419	361/12075	121/4024		chr2	TogoVar
DNAH8_chr6_38710311_39035792	38857680	A A	T T	stop_gained stop_gained	HIGH	NA18970.hp1 NA18970.hp1	a0076 a0076	a0076c0072 a0076c0072	a0076c0072t0001 a0076c0072t0001	a0076c0072t0001g0027 a0076c0072t0001g0027	1	284	0.0035	0	c.589 others(4): Show c.5896A>T	p.Arg others(5): Show p.Arg1966*	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	42/93	6035/14663	5896/14124	1966/4707		chr6	TogoVar
DNAH9_chr17_11593470_11974748	11699776	C C	T T	stop_gained stop_gained	HIGH	HG02735.hp1 HG02735.hp1	a0050 a0050	a0050c0130 a0050c0130	a0050c0130t0001 a0050c0130t0001	a0050c0130t0001g0113 a0050c0130t0001g0113	1	176	0.0057	0	c.491 others(4): Show c.4918C>T	p.Arg others(5): Show p.Arg1640*	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	23/69	4947/13711	4918/13461	1640/4486		chr17	TogoVar
DNAJB7_chr22_40854549_40867113	40861877	C C	A A	stop_gained stop_gained	HIGH	NA18940.hp2 NA18940.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0000 a0008c0012t0001g0000	1	408	0.0025	0	c.118 others(3): Show c.118G>T	p.Glu others(3): Show p.Glu40*	DNAJB7	ENSG00000172404.5	transcript	ENST00000307221.5	protein_coding	1/1	237/2565	118/930	40/309		chr22	TogoVar
DNHD1_chr11_6492280_6577020	6558077	C C	T T	stop_gained stop_gained	HIGH	HG03041.hp1 HG03041.hp1	a0084 a0084	a0084c0120 a0084c0120	a0084c0120t0002 a0084c0120t0002	a0084c0120t0002g0156 a0084c0120t0002g0156	1	340	0.0029	0	c.878 others(4): Show c.8782C>T	p.Arg others(5): Show p.Arg2928*	DNHD1	ENSG00000179532.13	transcript	ENST00000254579.11	protein_coding	25/43	9362/14876	8782/14262	2928/4753		chr11	TogoVar
DNHD1_chr11_6492280_6577020	6563801	C C	T T	stop_gained stop_gained	HIGH	HG01243.hp2 HG01884.hp2 HG02965.hp2 HG01243.hp2 HG01884.hp2 HG02965.hp2	a0030 a0061 a0030 a0061	a0030c0037 a0061c0058 a0030c0037 a0061c0058	a0030c0037t0001 a0061c0058t0001 a0030c0037t0001 a0061c0058t0001	a0030c0037t0001g0092 a0030c0037t0001g0093 a0061c0058t0001g0207 a0030c0037t0001g0092 a0030c0037t0001g0093 a0061c0058t0001g0207	3	340	0.0088	0	c.996 others(4): Show c.9961C>T	p.Arg others(5): Show p.Arg3321*	DNHD1	ENSG00000179532.13	transcript	ENST00000254579.11	protein_coding	31/43	10541/14876	9961/14262	3321/4753		chr11	TogoVar

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