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
ABCC10_chr6_43422541_43455427	43450090	G G	C C	stop_lost stop_lost	HIGH	NA19011.hp2 NA19011.hp2	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0004 a0011c0019t0004	a0011c0019t0004g0068 a0011c0019t0004g0068	1	340	0.0029	0	c.447 others(4): Show c.4478G>C	p.Ter others(12): Show p.Ter1493Serext*?	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	22/22	4706/5043	4478/4479	1493/1492		chr6	TogoVar
ACOXL_chr2_110727573_111123548	111117814	T T	C C	stop_lost stop_lost	HIGH	HG02257.hp1 NA19043.hp1 HG02257.hp1 NA19043.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0005 a0004c0005t0005 a0001c0001t0005 a0004c0005t0005	a0001c0001t0005g0071 a0004c0005t0005g0045 a0001c0001t0005g0071 a0004c0005t0005g0045	2	148	0.0135	0	c.174 others(4): Show c.1741T>C	p.Ter others(11): Show p.Ter581Glnext*?	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	18/18	1965/2699	1741/1743	581/580		chr2	TogoVar
ACP3_chr3_132312407_132363841	132356876	T T	C C	stop_lost stop_lost	HIGH	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0213 a0001c0001t0031g0213	1	366	0.0027	0	c.115 others(4): Show c.1159T>C	p.Ter others(11): Show p.Ter387Glnext*?	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	10/10	1209/3174	1159/1161	387/386		chr3	TogoVar
AIM2_chr1_159057484_159081766	159062694	A A	C C	stop_lost stop_lost	HIGH	HG02258.hp1 HG03225.hp2 HG03453.hp2 others(2): Show HG02258.hp1 HG03225.hp2 HG03453.hp2 NA18906.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0004 a0001c0004t0003 a0001c0001t0003 a0001c0001t0004 a0001c0004t0003	a0001c0001t0003g0111 a0001c0001t0003g0117 a0001c0001t0004g0166 others(2): Show a0001c0001t0003g0111 a0001c0001t0003g0117 a0001c0001t0004g0166 a0001c0004t0003g0147 a0001c0004t0003g0149	5	392	0.0128	0	c.103 others(4): Show c.1030T>G	p.Ter others(11): Show p.Ter344Gluext*?	AIM2	ENSG00000163568.16	transcript	ENST00000368130.9	protein_coding	6/6	1184/1394	1030/1032	344/343		chr1	TogoVar
AMBN_chr4_70587256_70612288	70606698	ATGCATGA others(49): Show ATGCATGACGCATGGCATTTCCAAGAGCCCTGACAGCTCTAAGATATTAG CTACTTT	A A	frameshift_variant others(1): Show frameshift_variant stop_lost	HIGH	NA18946.hp1 NA18946.hp1	a0017 a0017	a0017c0021 a0017c0021	a0017c0021t0009 a0017c0021t0009	a0017c0021t0009g0184 a0017c0021t0009g0184	1	478	0.0021	-56	c.131 others(64): Show c.1313_*24delTGCATGACGCATGGCATTTCCAAGAGCCCTGACAGCT CTAAGATATTAGCTACTTT	p.Met others(5): Show p.Met438fs	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding	13/13	1416/2005	1313/1344	438/447		chr4	TogoVar
ANKRD30A_chr10_37120598_37237567	37231448	GCAATCTT others(37): Show GCAATCTTCACAGAACTCATGAGAGACAAGCAGTAAGAAACTTCT	G G	frameshift_variant others(2): Show frameshift_variant stop_lost splice_region_variant	HIGH	HG02280.hp1 HG02280.hp1	a0009 a0009	a0009c0028 a0009c0028	a0009c0028t0009 a0009c0028t0009	a0009c0028t0009g0128 a0009c0028t0009g0128	1	284	0.0035	-44	c.418 others(55): Show c.4186-12_*23delCAATCTTCACAGAACTCATGAGAGACAAGCAGTA AGAAACTTCT	p.Asn others(6): Show p.Asn1396fs	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	35/36		4186/4194	1396/1397		chr10	TogoVar
ARMH2_chr6_24792335_24803917	24797412	A A	G G	stop_lost stop_lost	HIGH	HG00140.hp1 HG02622.hp1 HG02738.hp1 others(2): Show HG00140.hp1 HG02622.hp1 HG02738.hp1 HG04184.hp1 NA18976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0006 a0001c0002t0003g0006	5	442	0.0113	0	c.691 others(3): Show c.691T>C	p.Ter others(11): Show p.Ter231Glnext*?	ARMH2	ENSG00000260286.4	transcript	ENST00000565469.4	protein_coding	2/2	751/828	691/693	231/230		chr6	TogoVar
ASDURF_chr2_189656459_189671401	189666109	T T	C C	stop_lost stop_lost	HIGH	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	1	338	0.0030	0	c.289 others(3): Show c.289T>C	p.Ter others(10): Show p.Ter97Glnext*?	ASDURF	ENSG00000286053.2	transcript	ENST00000607829.6	protein_coding	4/4	351/643	289/291	97/96		chr2	TogoVar
ASMTL_chrX_1398139_1457909	1403270	CA CA	C C	frameshift_variant others(1): Show frameshift_variant stop_lost	HIGH	HG00323.hp2 HG00733.hp1 HG01070.hp2 others(8): Show HG00323.hp2 HG00733.hp1 HG01070.hp2 HG01071.hp1 HG01257.hp1 HG02004.hp2 HG02165.hp2 HG02615.hp1 HG02683.hp1 NA18971.hp2 NA19081.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0003 a0002c0038 a0003c0027 others(1): Show a0002c0003 a0002c0038 a0003c0027 a0004c0007	a0002c0003t0002 a0002c0038t0002 a0003c0027t0002 others(1): Show a0002c0003t0002 a0002c0038t0002 a0003c0027t0002 a0004c0007t0002	a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0002g0042 others(8): Show a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0002g0042 a0002c0003t0002g0043 a0002c0003t0002g0062 a0002c0003t0002g0090 a0002c0003t0002g0094 a0002c0003t0002g0129 a0002c0038t0002g0071 a0003c0027t0002g0027 a0004c0007t0002g0072	11	183	0.0601	-1	c.186 others(5): Show c.1864delT	p.Ter others(5): Show p.Ter622fs	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	13/13	1933/2065	1864/1866	622/621		chrX	TogoVar
ATP8B3_chr19_1777075_1817276	1783028	T T	C C	stop_lost stop_lost	HIGH	HG01070.hp1 HG01071.hp1 HG01192.hp2 others(25): Show HG01070.hp1 HG01071.hp1 HG01192.hp2 HG01258.hp1 HG01884.hp2 HG02055.hp2 HG02145.hp1 HG02258.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02735.hp1 HG02895.hp2 HG03098.hp2 HG03209.hp1 HG03225.hp2 HG03540.hp1 HG03688.hp1 HG04184.hp2 HG04204.hp1 NA18522.hp2 NA18906.hp2 NA19043.hp1 NA20300.hp1 NA20805.hp1	a0006 a0007 a0009 others(8): Show a0006 a0007 a0009 a0010 a0011 a0012 a0014 a0023 a0027 a0028 a0032	a0006c0020 a0006c0032 a0006c0063 others(15): Show a0006c0020 a0006c0032 a0006c0063 a0007c0023 a0007c0038 a0007c0065 a0009c0035 a0009c0058 a0010c0029 a0011c0059 a0011c0060 a0012c0027 a0014c0054 a0014c0071 a0023c0040 a0027c0050 a0028c0046 a0032c0043	a0006c0020t0007 a0006c0020t0008 a0006c0032t0007 others(16): Show a0006c0020t0007 a0006c0020t0008 a0006c0032t0007 a0006c0063t0007 a0007c0023t0007 a0007c0038t0007 a0007c0065t0007 a0009c0035t0007 a0009c0058t0008 a0010c0029t0007 a0011c0059t0017 a0011c0060t0007 a0012c0027t0008 a0014c0054t0007 a0014c0071t0007 a0023c0040t0008 a0027c0050t0008 a0028c0046t0008 a0032c0043t0008	a0006c0020t0007g0011 a0006c0020t0007g0054 a0006c0020t0007g0080 others(25): Show a0006c0020t0007g0011 a0006c0020t0007g0054 a0006c0020t0007g0080 a0006c0020t0008g0373 a0006c0032t0007g0131 a0006c0032t0007g0132 a0006c0063t0007g0038 a0007c0023t0007g0039 a0007c0023t0007g0052 a0007c0023t0007g0110 a0007c0038t0007g0178 a0007c0038t0007g0179 a0007c0065t0007g0138 a0009c0035t0007g0165 a0009c0035t0007g0166 a0009c0058t0008g0374 a0010c0029t0007g0034 a0010c0029t0007g0056 a0011c0059t0017g0076 a0011c0060t0007g0137 a0012c0027t0008g0250 a0012c0027t0008g0261 a0014c0054t0007g0026 a0014c0071t0007g0170 a0023c0040t0008g0263 a0027c0050t0008g0236 a0028c0046t0008g0353 a0032c0043t0008g0247	28	388	0.0722	0	c.390 others(4): Show c.3903A>G	p.Ter others(12): Show p.Ter1301Trpext*?	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	29/29	4142/5095	3903/3903	1301/1300		chr19	TogoVar
ATXN2L_chr16_28817999_28842232	28836265	A A	C C	stop_lost stop_lost	HIGH	NA18941.hp2 NA18941.hp2	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0014 a0010c0019t0014	a0010c0019t0014g0059 a0010c0019t0014g0059	1	380	0.0026	0	c.322 others(4): Show c.3228A>C	p.Ter others(12): Show p.Ter1076Cysext*?	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	22/22	3489/4456	3228/3228	1076/1075		chr16	TogoVar
BOD1L1_chr4_13563738_13632725	13570012	T T	G G	stop_lost stop_lost	HIGH	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0182 a0001c0001t0011g0182	1	256	0.0039	0	c.915 others(4): Show c.9155A>C	p.Ter others(12): Show p.Ter3052Serext*?	BOD1L1	ENSG00000038219.13	transcript	ENST00000040738.10	protein_coding	26/26	9293/10567	9155/9156	3052/3051		chr4	TogoVar
C15orf48_chr15_45425610_45438340	45433016	A A	G G	stop_lost stop_lost	HIGH	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0003 a0001c0001t0006g0003	1	418	0.0024	0	c.252 others(3): Show c.252A>G	p.Ter others(10): Show p.Ter84Trpext*?	C15orf48	ENSG00000166920.13	transcript	ENST00000396650.7	protein_coding	5/5	325/649	252/252	84/83		chr15	TogoVar
C1QTNF12_chr1_1237453_1251722	1242514	GGCGGCAG others(36): Show GGCGGCAGCTCCTCGCCAGCCCCCCTGGGCGCCCTCACGTGCCC	G G	frameshift_variant others(1): Show frameshift_variant stop_lost	HIGH	HG04115.hp1 HG04115.hp1	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0004 a0011c0022t0004	a0011c0022t0004g0034 a0011c0022t0004g0034	1	326	0.0031	-43	c.900 others(50): Show c.900_*33delGGGCACGTGAGGGCGCCCAGGGGGGCTGGCGAGGAGCT GCCGC	p.Leu others(5): Show p.Leu300fs	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	8/8	974/1036	900/909	300/302		chr1	TogoVar
CABYR_chr18_24134062_24166600	24160067	CTG CTG	C C	frameshift_variant others(2): Show frameshift_variant stop_lost splice_region_variant	HIGH	HG01884.hp2 HG02559.hp1 HG02723.hp2 others(7): Show HG01884.hp2 HG02559.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02976.hp2 HG03041.hp2 HG03225.hp1 HG03453.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0015 a0001c0001t0002g0103 a0001c0001t0002g0104 others(5): Show a0001c0001t0002g0015 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0161 a0001c0002t0002g0125	10	406	0.0246	-2	c.113 others(11): Show c.1138_1139delTG	p.Ter others(5): Show p.Ter380fs	CABYR	ENSG00000154040.21	transcript	ENST00000399496.8	protein_coding	5/6	1219/1305	1138/1140	380/379		chr18	TogoVar
CBLN3_chr14_24421545_24434668	24427789	T T	G G	stop_lost stop_lost	HIGH	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0030 a0001c0001t0023g0030	1	450	0.0022	0	c.618 others(3): Show c.618A>C	p.Ter others(11): Show p.Ter206Cysext*?	CBLN3	ENSG00000139899.11	transcript	ENST00000267406.11	protein_coding	3/3	1232/2476	618/618	206/205		chr14	TogoVar
CCL13_chr17_34351480_34363610	34358129	T T	G G	stop_lost stop_lost	HIGH	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	444	0.0023	0	c.295 others(3): Show c.295T>G	p.Ter others(10): Show p.Ter99Glyext*?	CCL13	ENSG00000181374.8	transcript	ENST00000225844.7	protein_coding	3/3	342/823	295/297	99/98		chr17	TogoVar
CCRL2_chr3_46402259_46414523	46409113	A A	C C	stop_lost stop_lost	HIGH	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0002 a0001c0001t0006g0002	1	414	0.0024	0	c.103 others(4): Show c.1034A>C	p.Ter others(11): Show p.Ter345Serext*?	CCRL2	ENSG00000121797.10	transcript	ENST00000399036.4	protein_coding	2/2	1290/1700	1034/1035	345/344		chr3	TogoVar
CD101_chr1_116996760_117041552	117034068	GAGGGAAG others(26): Show GAGGGAAGACGAGGAGGAAGATGAAGGCAACTGA	G G	stop_lost others(1): Show stop_lost conservative_inframe_deletion	HIGH	HG02683.hp2 HG02683.hp2	a0023 a0023	a0023c0041 a0023c0041	a0023c0041t0005 a0023c0041t0005	a0023c0041t0005g0243 a0023c0041t0005g0243	1	424	0.0024	-33	c.303 others(40): Show c.3035_*1delGGGAAGACGAGGAGGAAGATGAAGGCAACTGAA	p.Arg others(21): Show p.Arg1012_Ter1022delins???	CD101	ENSG00000134256.13	transcript	ENST00000682167.1	protein_coding	9/10	3093/3542	3035/3066	1012/1021	INFO_REALIGN_3_PRIME	chr1	TogoVar
CELA3B_chr1_21972022_21994354	21989262	ACCATAGC others(5085): Show ACCATAGCAAGCCACTAGAACCAAGGCCCAGCTGGCAGTGCTGATCGATC CCACATCCTGAATAAAGAATAAAGATCTCTCAGAAAATTCCAAGTTGAAT CTTTCTTTCTTTGTTGACTCACCTCTTCCCCTCTGGCCTGTTCCTAAAAT CTTAGATCTCATATGCAGAGACAGGACCAGGTCCAACCCTTTCATACGAA GATGAGGGAAAAATGATGCTGGGAGAGAAGGGAGTTGCTGTGCGGTGACC TGACCATCCTGGTTTGCCTGGAACTTCAGGAGTGAAGACACTGGACATTT AATGCTAAAACTGGGAAGGTACCAGGAAAAATGGGACAAGTTGGTCGCCT TAGTATATAGTCGCACATAAGTCAGTAGCTTTTCAATGCAGGCATATAAA CATGGTAAAAATCTGCAGATAAACAGACCCTGCCAGCCCCTCAGCAGGCT CATGGTAGAGTGGGAAGGACAATGTGTGATCTGCTTCCACTGATGGGCTG GGGGCTTTGGTTATTCATTCATTCAACAAACACTTATTCCTTGTTTTAAA GGAGGGCTCAGAGGGGTAAGGAGACATGGTTCCTGCCCTGAAGTGACTCA TTATTTAAAGATAGCTCTCTTAGTCTGTGTTCATACTGCTATAAAGAACT GCCCGAGACTGGGTAGTTTATAAAGGAAAGAAGTGTAATTGACTCACAGT TCAGCATGGCTGGGGAGGCCTCAGGAAACTTAAAATCATGGTGGAAGATG AAGGGGAAGCAAGGGACCTTCTTTACAAGGTGGCAGGAAGGAAAATTGCC TAGCAAAGGGGGAAGAGCCCCTTATAAAACCATCAGATCTGGCGAGAACT CACTCACTATCATGAGAACAGCATGGGGGAACCGCCCTATGATTCAATTA CCTTCTCCCTTGACACATGGCGATTATGGGGATTACAATTCAAGGTGAGA TTTGGGTGGGGACACAAAGCCTAACCATGTCATGAGCATATCACGGTCAT TCATTAAACATGTATTAGGTACCTGCCTTGTGGCAAGTTCAGGGCTGGAA AAACAGAGACAAGTCAGGCAACCCTAGGAAGAGCCCTTACTGAAGGGGGG AGAAGACACACACACAGGTACACAGGTATACACACACAGGTACACACAAT GCTGCGCACGAGCCCAGAGCCAGCAAACAGTTGAGTTTTGAAAGGAAGAA CGCTGGCCAGGTGCAGTAGCTCATGCTTGTAATCCTAGCACTTTGGGAGG CTGAGGCAGGTAGATCAACTGAGGTCACGAGTTCGAAACTCCTTCTTAAA AAAAAAAAAGAATGCTGTTACACAGACAAAAGCAACATAAAACAAGGGAG TCTGGCTGGGCCTGGTGGTTCATACTTGTAATCCCAGCACTTTGGGAGGC CAGGGTGGGTGGATCACTTGAGCCCACGAGTTTGAGACCAGCCTGGGAAA CATGGTAAAACCCCATCTCTACAAAAAACATAAAAATTAGCCAGGTGTGG TGGTGGGTACTTGTAGTCCCAGCTACTCGGAAGACTGAGGTGGAAGAATC ACTTGAGTCCAGGAGGCAGAAGCTGCAGTGAGCTGAGACTGTGACACTGT ACTCCAGCCTGGGCACAGAGCAAGACTCTGTCTGAAAAAAAAAAAAAAAA AAATTCAACGGAATCTCTTTCCTCATATTTCTCTTTGAACACCATGAAAG GGAAGATTGTCCCAGCAAGGACACACACAAATGACTTTGATATTAATGGC CCATTTGTAGCCTCCCTTTATACTTTCAGCTACAACTGAAAAAGATGCAA CATAGAGAATAATATAGCAGAGACTCAGATAGGTATCCTCCCTTCAGAAT TAACAAATTTCACATTTTGCTTCATATTCTAAAAAATATTAATTACAATC ATTCACTAAAAAAAATCAAGAGATCTATAATTTTTTAGATCCAGCCTGTC ACCCAGGCTGGAGGGCAGTGGCACAATCCTGGCTCGCTGCAACCTCCGCC TCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACT ACAGTCACCCACCACCATGCCTGGCTTATTTTTTTTGTTTTTGAGTTGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTACAATGGTGTAATCTCAGCTCAC TGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCA AGCAGCTGGGACTACAGGCGCATGCCACCACGCTCAGCTAATTTTTGTAT TTTTAGTAGAGATGAGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTC CTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTAC AGGTGTGAGCCACTGTGCCGGGCCAGGATCTATAAATTTGGAAAGGAGAT TTTATATCTTATAAAGGGTTATAGCCTGCATGGTGGCCATGCTGACAGGC TGGGAAGTGTAGCCTCCTGCAGAGATCAGAAACAGGCACTCCAAAGGAGG AGGGATTGAAGTGGAAGCTTGAAGCTGAAAGAGTTGGCTAAACATACATA TTCAACAGGTTATAGAAGGAGCTGTGGGCTGGGCGCAGTGGCTCATGCCT GTCATCCCAGCACTTTGGGAGGCTGAGGCCAGTGGATCACTTGAGGTCAG GACTTTGTGACCAGCCTGGCCAACATGGTGAAGCCCCGTCTCTACTAAAA AATACAAAATTAGGCAGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACT CAGGAGGCTGAGGCAGGAGAATTGCTTGAAACTGGGAGGCAGATGTTGCA ATGAGCTGAGATCATGCCATTGCACTCCAGCCTGGGTGACAAGAGCAAAA CTCCGTTTCAAAAAAAAAAGAAGGAGCTGTAAATATTAACAAAGGGGGTC CTGACACATGTGTACTGAACAAACGTATGTTACATGTGTCCCATGTTCAC TGTGGGGTGGAGACTTGACATTTAAATGCATTACTGCTGGGCATGGTGGC ATGTGCCTATAGTCCCCGCTACTCAGGAGGTGGAGACAGGAGGGTAGCTT GAAGCTAGGAGTTCAAGGCTGCAGTGCACTATGGTCGCACCTGTGAATAG CCACTGCACTCCAGCCTGGACAACATAGTGAGACCCCACCTCTTTAAGCA TGACAACAAGACCCTGTGCATCAAAAGGTGAAGCAGGAACATGAAGGTAC TCAAGTGCAGCTTCTGTAAACCAGACAGAACCAGTCCGTGGTCTGTGGTC TTCTTATCAGGAGAAAGTTACTGAAATCTGTGTCCTTACCAATCAAAGCT GGAGTTATGGCTTTGGAGCAGGAGCAGGGGGTGTGTTAGGGTCTGGTGGT GGATGAGCTGCAGTTGTTTTAATATTATTGATCTCAAGGCCAGTGCTTGT TGAGCTGCTAGAGAAAAGGAAAAATCTCAGGCAGCTGGGAACGGTGGCTC ATGCCTATAATCCCAGCACTTTGGGAGGTTAGGGTAGGAGGACTGGAGGA CTGCTTGAACCCAGGGGTTTGAGACCAGCTTGGGCAACATGGCAAAACCC CATCTTAGCTGGGTGGTGTGACACATGCCTGTAGTCCCAGCTACTTGGGA GGCAGAGGTGGGAAGATCACTTGAGCCCGAGAGGTTGAGGCTGCAGTGAG CTGTGATTGCACCACTGTACCACTCCAGCCTGGGTGACAGATTGAGACCT TGTCTCCAAAAAAAAAAAAAAGAAAGAAAAATCTTGTGGCAGTTAGAACA TAGTTCTAATGGCAGGATGTCCAGGTGTCCTGATACCACATCACAATATC CGCTTTTAAGACAGTTACAGTCATGCTTTGATGTATTTCCGCACTAAAAT ACCAAGGATAATTTTCTTTAAATCAACAAAATACTAAATTTTCTTTTAAA AAGGTTATTGTATTTATGGCTGGGCACTGTGACTCATGCCTGTAATCCCG GCACTTTGGGAGGCTGAGGCAGGTGGGTCACTTGAGGTCAGGAGTTCGAG ACCAGACTGGCCAACATGGCGAAATCCCGTCTCTAATAAAAATACAAAAA ATTAGCTGAGCATGGTGGCGCGTGCCTGTAATCCCAGCTACTTTGGAGGC TGAGGTGGAAGAATTGCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCTG AGATCGCACCACTGCACTCCAGCCTGCACAACAGAAAGGACCTCCTCTCC AAAAAAAAAAAAAAAAAAGAAGAAGAAAAGAAAAGAAATTGTATTTGTTC ATTTATTTTTCAAAGCCAAATACTTCTGAATTTCTTTAAAAAAAATTTTT TTCTACGCAGTCTCGCTCTGTTGTCCGGCTGGAGTACAGTGGCCCCATCA CTGCTCACTGCAGCCTTGACCTCCCGGGCTCAAGTGATCCTCGCACCTCA ACCTCCCAAGTAGCTGGGACTACAGGTGCATGCTACCATGCCCAGCTAAT TTTTGTATTTTTTTGTAGAGATGGGGTTTCACCCCATTGCCCAGGCTGGT CTTGAACTCCCAGGCTCAAGTGATCCACCTACCTCAGCCTCCCAAAGTGC TAGGATTACAGGTGTGAGCCACTGCACCTGGACTCAGATTTTGTCTTTCT TGAAAACCTCCTTCGACCTCAGCCCATCCGCTCCTCCACTGCCCCCACCC TGGTTACCTGGAGAACCTCTGCAGAACCCACACTAGCCTCCCTGATGGCA TTCTGGCTCCTCTTCAAACCGTTTCCCACTCAGCAGCCAGAGACATGCTT CAAGACATAAGCTGGATCATGTTCTCCTGTGGAAAACCCTTCAAAGGCCT CCTGTGGCCTTGTGTGCCTGCCCTGCAGGAATCTCCAGCCCCACTTCTCT GCTCCCATCCCAGAGAAGCTCCAGTCCTTAGATTTATTCCTTGCTGTATC GTGGCTGGGCAGGGGCAGGCTGGATTTCCCAGGCACCTATGACAGCAGGC TTCTCCCACTTCCAGTGGGAGATTGAAAGGCTGGAGGGAGAGAGAAACCT CCCTCCTATCCTCCAAAAGGTACTTCTCTCCCTACACTTCCTCCACTGCT CCCACCAGACATGCCTGGGCTGGGCCCAGCTTTGGCGAGGTGA	A A	stop_lost others(4): Show stop_lost 3_prime_UTR_truncation exon_loss_variant conservative_inframe_deletion splice_region_variant	HIGH	HG01515.hp2 HG01515.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0044 a0008c0010t0001g0044	1	442	0.0023	-5092	c.799 others(9): Show c.799_*5077del	p.Ile others(13): Show p.Ile267_Ter271del	CELA3B	ENSG00000219073.8	transcript	ENST00000337107.11	protein_coding	8/8	817/906	799/813	267/270	INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP192_chr18_12986362_13130036	13124770	A A	T T	stop_lost stop_lost	HIGH	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0237 a0001c0002t0005g0237	1	390	0.0026	0	c.761 others(4): Show c.7614A>T	p.Ter others(12): Show p.Ter2538Tyrext*?	CEP192	ENSG00000101639.19	transcript	ENST00000506447.5	protein_coding	45/45	7694/7960	7614/7614	2538/2537		chr18	TogoVar
CEP89_chr19_32870925_32976958	32879164	A A	G G	stop_lost stop_lost	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(46): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01358.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp2 HG02056.hp2 HG02132.hp2 HG02165.hp1 HG02257.hp2 HG02559.hp2 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18944.hp2 NA18949.hp2 NA18955.hp1 NA18977.hp2 NA18980.hp1 NA18984.hp1 NA19003.hp1 NA19004.hp2 NA19012.hp1 NA19030.hp2 NA19057.hp1 NA19083.hp1	a0004 a0009 a0004 a0009	a0004c0005 a0004c0007 a0009c0012 a0004c0005 a0004c0007 a0009c0012	a0004c0005t0005 a0004c0005t0014 a0004c0005t0015 others(7): Show a0004c0005t0005 a0004c0005t0014 a0004c0005t0015 a0004c0005t0022 a0004c0005t0024 a0004c0005t0025 a0004c0007t0004 a0004c0007t0023 a0009c0012t0004 a0009c0012t0021	a0004c0005t0005g0099 a0004c0005t0005g0100 a0004c0005t0005g0101 others(46): Show a0004c0005t0005g0099 a0004c0005t0005g0100 a0004c0005t0005g0101 a0004c0005t0005g0102 a0004c0005t0005g0103 a0004c0005t0005g0104 a0004c0005t0005g0105 a0004c0005t0005g0107 a0004c0005t0005g0109 a0004c0005t0005g0111 a0004c0005t0005g0113 a0004c0005t0005g0114 a0004c0005t0005g0117 a0004c0005t0005g0118 a0004c0005t0005g0119 a0004c0005t0005g0121 a0004c0005t0005g0122 a0004c0005t0005g0166 a0004c0005t0005g0268 a0004c0005t0005g0269 a0004c0005t0014g0115 a0004c0005t0014g0116 a0004c0005t0015g0108 a0004c0005t0015g0123 a0004c0005t0022g0081 a0004c0005t0024g0112 a0004c0005t0025g0110 a0004c0007t0004g0080 a0004c0007t0004g0275 a0004c0007t0004g0276 a0004c0007t0004g0277 a0004c0007t0004g0279 a0004c0007t0004g0280 a0004c0007t0004g0281 a0004c0007t0004g0282 a0004c0007t0004g0283 a0004c0007t0004g0284 a0004c0007t0004g0285 a0004c0007t0004g0286 a0004c0007t0004g0287 a0004c0007t0004g0288 a0004c0007t0004g0289 a0004c0007t0004g0290 a0004c0007t0004g0291 a0004c0007t0004g0292 a0004c0007t0004g0294 a0004c0007t0023g0295 a0009c0012t0004g0065 a0009c0012t0021g0017	49	384	0.1276	0	c.235 others(4): Show c.2350T>C	p.Ter others(11): Show p.Ter784Glnext*?	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	19/19	2434/5673	2350/2352	784/783		chr19	TogoVar
CFAP46_chr10_132803392_132947570	132808422	C C	G G	stop_lost stop_lost	HIGH	HG01517.hp2 HG01517.hp2	a0040 a0040	a0040c0087 a0040c0087	a0040c0087t0003 a0040c0087t0003	a0040c0087t0003g0112 a0040c0087t0003g0112	1	244	0.0041	0	c.814 others(4): Show c.8147G>C	p.Ter others(12): Show p.Ter2716Serext*?	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	58/58	8233/8263	8147/8148	2716/2715		chr10	TogoVar
CGB1_chr19_49030569_49041895	49035611	T T	G G	stop_lost stop_lost	HIGH	HG01243.hp1 HG01433.hp1 HG01884.hp1 others(15): Show HG01243.hp1 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG03516.hp1 HG06807.hp2 NA19002.hp1 NA19030.hp2 NA20300.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0010	a0001c0001 a0001c0004 a0002c0003 others(2): Show a0001c0001 a0001c0004 a0002c0003 a0005c0008 a0010c0011	a0001c0001t0010 a0001c0004t0004 a0002c0003t0004 others(3): Show a0001c0001t0010 a0001c0004t0004 a0002c0003t0004 a0002c0003t0006 a0005c0008t0004 a0010c0011t0004	a0001c0001t0010g0035 a0001c0004t0004g0009 a0002c0003t0004g0015 others(3): Show a0001c0001t0010g0035 a0001c0004t0004g0009 a0002c0003t0004g0015 a0002c0003t0006g0008 a0005c0008t0004g0018 a0010c0011t0004g0033	18	374	0.0481	0	c.467 others(3): Show c.467A>C	p.Ter others(11): Show p.Ter156Serext*?	CGB1	ENSG00000267631.5	transcript	ENST00000301407.8	protein_coding	3/3	651/693	467/468	156/155		chr19	TogoVar
CHST5_chr16_75523530_75541108	75529150	C C	G G	stop_lost stop_lost	HIGH	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0090 a0001c0001t0042g0090	1	392	0.0026	0	c.123 others(4): Show c.1235G>C	p.Ter others(11): Show p.Ter412Serext*?	CHST5	ENSG00000135702.15	transcript	ENST00000336257.8	protein_coding	4/4	2934/3554	1235/1236	412/411		chr16	TogoVar
CKM_chr19_45301413_45327875	45306752	A A	G G	stop_lost stop_lost	HIGH	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0247 a0001c0001t0006g0247	1	390	0.0026	0	c.114 others(4): Show c.1144T>C	p.Ter others(11): Show p.Ter382Glnext*?	CKM	ENSG00000104879.5	transcript	ENST00000221476.4	protein_coding	8/8	1217/1556	1144/1146	382/381		chr19	TogoVar
CLEC4A_chr12_8118617_8143607	8138285	T T	C C	stop_lost stop_lost	HIGH	HG01167.hp2 HG01169.hp2 HG02647.hp1 others(4): Show HG01167.hp2 HG01169.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG03516.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0001c0001t0013 a0002c0002t0019 a0001c0001t0009 a0001c0001t0013 a0002c0002t0019	a0001c0001t0009g0017 a0001c0001t0009g0032 a0001c0001t0009g0098 others(2): Show a0001c0001t0009g0017 a0001c0001t0009g0032 a0001c0001t0009g0098 a0001c0001t0013g0017 a0002c0002t0019g0064	7	456	0.0154	0	c.712 others(3): Show c.712T>C	p.Ter others(11): Show p.Ter238Argext*?	CLEC4A	ENSG00000111729.15	transcript	ENST00000229332.12	protein_coding	6/6	974/1296	712/714	238/237		chr12	TogoVar
CLN3_chr16_28472279_28497074	28477518	A A	C C	stop_lost stop_lost	HIGH	NA18940.hp1 NA18940.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0234 a0004c0004t0005g0234	1	358	0.0028	0	c.131 others(4): Show c.1315T>G	p.Ter others(11): Show p.Ter439Glyext*?	CLN3	ENSG00000188603.22	transcript	ENST00000636147.2	protein_coding	16/16	1446/1685	1315/1317	439/438		chr16	TogoVar
CPA2_chr7_130261863_130294798	130289746	A A	G G	stop_lost stop_lost	HIGH	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	398	0.0025	0	c.125 others(4): Show c.1259A>G	p.Ter others(11): Show p.Ter420Trpext*?	CPA2	ENSG00000158516.12	transcript	ENST00000222481.9	protein_coding	11/11	1278/1330	1259/1260	420/419		chr7	TogoVar
CPZ_chr4_8587765_8624752	8619615	T T	A A	stop_lost stop_lost	HIGH	HG00323.hp1 HG00323.hp1	a0017 a0017	a0017c0035 a0017c0035	a0017c0035t0009 a0017c0035t0009	a0017c0035t0009g0246 a0017c0035t0009g0246	1	440	0.0023	0	c.195 others(4): Show c.1957T>A	p.Ter others(11): Show p.Ter653Lysext*?	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	11/11	2026/2163	1957/1959	653/652		chr4	TogoVar
CTAGE4_chr7_144178466_144191080	144185835	T T	C C	stop_lost stop_lost	HIGH	HG01257.hp2 HG01261.hp1 HG01358.hp1 others(1): Show HG01257.hp2 HG01261.hp1 HG01358.hp1 NA20752.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0004 a0006c0005t0004	a0006c0005t0004g0000 a0006c0005t0004g0000	4	392	0.0102	0	c.233 others(4): Show c.2332T>C	p.Ter others(11): Show p.Ter778Argext*?	CTAGE4	ENSG00000288784.1	transcript	ENST00000486333.2	protein_coding	1/1	2370/2615	2332/2334	778/777		chr7	TogoVar
CTAGE4_chr7_144178466_144191080	144185837	A A	C C	stop_lost stop_lost	HIGH	NA20752.hp2 NA20752.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0008	a0003c0003t0008g0000 a0003c0003t0008g0000	1	392	0.0026	0	c.233 others(4): Show c.2334A>C	p.Ter others(11): Show p.Ter778Cysext*?	CTAGE4	ENSG00000288784.1	transcript	ENST00000486333.2	protein_coding	1/1	2372/2615	2334/2334	778/777		chr7	TogoVar
CXCL11_chr4_76028682_76041070	76034794	T T	A A	stop_lost stop_lost	HIGH	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0013 a0001c0001t0011g0013	1	420	0.0024	0	c.284 others(3): Show c.284A>T	p.Ter others(10): Show p.Ter95Leuext*?	CXCL11	ENSG00000169248.13	transcript	ENST00000306621.8	protein_coding	4/4	367/1479	284/285	95/94		chr4	TogoVar
DIS3_chr13_72747169_72786900	72759797	A A	G G	stop_lost stop_lost	HIGH	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0076 a0001c0001t0031g0076	1	420	0.0024	0	c.287 others(4): Show c.2875T>C	p.Ter others(11): Show p.Ter959Glnext*?	DIS3	ENSG00000083520.15	transcript	ENST00000377767.9	protein_coding	21/21	2943/10571	2875/2877	959/958		chr13	TogoVar
DRC1_chr2_26396920_26461711	26456517	A A	C C	stop_lost stop_lost	HIGH	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0009 a0001c0022t0009	a0001c0022t0009g0322 a0001c0022t0009g0322	1	382	0.0026	0	c.222 others(4): Show c.2223A>C	p.Ter others(11): Show p.Ter741Cysext*?	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	17/17	2293/2487	2223/2223	741/740		chr2	TogoVar
ETHE1_chr19_43501719_43532201	43506852	A A	C C	stop_lost stop_lost	HIGH	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0221 a0001c0004t0002g0221	1	406	0.0025	0	c.763 others(3): Show c.763T>G	p.Ter others(11): Show p.Ter255Glyext*?	ETHE1	ENSG00000105755.8	transcript	ENST00000292147.7	protein_coding	7/7	787/920	763/765	255/254		chr19	TogoVar
EVA1B_chr1_36317030_36328645	36322295	T T	C C	stop_lost stop_lost	HIGH	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0014	1	404	0.0025	0	c.498 others(3): Show c.498A>G	p.Ter others(11): Show p.Ter166Trpext*?	EVA1B	ENSG00000142694.7	transcript	ENST00000490466.2	protein_coding	3/3	715/980	498/498	166/165		chr1	TogoVar
EXOC3L4_chr14_103089725_103115559	103110204	TGCTGATC others(11): Show TGCTGATCACCTGCGTCTA	T T	stop_lost others(1): Show stop_lost conservative_inframe_deletion	HIGH	NA19001.hp1 NA19001.hp1	a0041 a0041	a0041c0043 a0041c0043	a0041c0043t0010 a0041c0043t0010	a0041c0043t0010g0258 a0041c0043t0010g0258	1	402	0.0025	-18	c.215 others(27): Show c.2152_2169delCTGATCACCTGCGTCTAG	p.Leu others(13): Show p.Leu718_Ter723del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	12/12	2284/2637	2152/2169	718/722	INFO_REALIGN_3_PRIME	chr14	TogoVar
FBP2_chr9_94553720_94598824	94558939	T T	C C	stop_lost stop_lost	HIGH	HG02622.hp1 HG02809.hp1 HG03139.hp1 others(1): Show HG02622.hp1 HG02809.hp1 HG03139.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0004 a0001c0001t0004 a0001c0002t0004	a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0002t0004g0050 others(1): Show a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0002t0004g0050 a0001c0002t0004g0051	4	378	0.0106	0	c.101 others(4): Show c.1019A>G	p.Ter others(11): Show p.Ter340Trpext*?	FBP2	ENSG00000130957.5	transcript	ENST00000375337.4	protein_coding	7/7	1117/1336	1019/1020	340/339		chr9	TogoVar
FCGR3B_chr1_161618196_161636176	161624517	A A	G G	stop_lost stop_lost	HIGH	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0087 a0001c0001t0019g0087	1	354	0.0028	0	c.700 others(3): Show c.700T>C	p.Ter others(11): Show p.Ter234Argext*?	FCGR3B	ENSG00000162747.13	transcript	ENST00000650385.1	protein_coding	5/5	782/2103	700/702	234/233		chr1	TogoVar
FFAR3_chr19_35353460_35365489	35359023	CGCCGCCC others(6459): Show CGCCGCCCGGTGGCCGTGGACGTGCTCCTGCTCAACCTGACCGCCTCGGA CCTGCTCCTGCTGCTGTTCCTGCCTTTCCGCATGGTGGAGGCAGCCAATG GCATGCACTGGCCCCTGCCCTTCATCCTCTGCCCACTCTCTGGATTCATC TTCTTCACCACCATCTATCTCACCGCCCTCTTCCTGGCAGCTGTGAGCAT TGAACGCTTCCTGAGTGTGGCCCACCCACTGTGGTACAAGACCCGGCCGA GGCTGGGGCAGGCAGGTCTGGTGAGTGTGGCCTGCTGGCTGTTGGCCTCT GCTCACTGCAGCGTGGTCTACGTCATAGAATTCTCAGGGGACATCTCCCA CAGCCAGGGCACCAATGGGACCTGCTACCTGGAGTTCCGGAAGGACCAGC TAGCCATCCTCCTGCCCGTGCGGCTGGAGATGGCTGTGGTCCTCTTTGTG GTCCCGCTGATCATCACCAGCTACTGCTACAGCCGCCTGGTGTGGATCCT CGGCAGAGGGGGCAGCCACCGCCGGCAGAGGAGGGTGGCGGGGCTGTTGG CGGCCACGCTGCTCAACTTCCTTGTCTGCTTTGGGCCCTACAACGTGTCC CATGTCGTGGGCTATATCTGCGGTGAAAGCCCGGCGTGGAGGATCTACGT GACGCTTCTCAGCACCCTGAACTCCTGTGTCGACCCCTTTGTCTACTACT TCTCCTCCTCCGGGTTCCAAGCCGACTTTCATGAGCTGCTGAGGAGGTTG TGTGGGCTCTGGGGCCAGTGGCAGCAGGAGAGCAGCATGGAGCTGAAGGA GCAGAAGGGAGGGGAGGAGCAGAGAGCGGACCGACCAGCTGAAAGAAAGA CCAGTGAACACTCACAGGGCTGTGGAACTGGTGGCCAGGTGGCCTGTGCT GAAAGCTAGGTCCTCCGGGGGAGGAGGGTGTAGCTGGCATGTCATCCTCA GGGCGCTTCCTCGCTCACGCCAGGAGGGACTTGGAGTGGCGAGCTGGGGC CCGATGGGGCTTGGGGGCAGAGTAGACATCTAGCCTCCCTAAGGGTATGC GCGCTAAAGCCCAGCTCTCGATCTCACCTCCATCCCCATCCACCCACACA CTATGGATTGGGCTCTGGGAAGGGGTCAGGGTGAGAGGCTGCTCTGGAGA ACAATGAGGTCCTCATAGCAGCAGGCAGCTCCTGTGTTTTCTTGAGGGTG GCAGAGGAGCTAAGAGCAGTGCCCAGGGTCTGAGGGGGCTGCCCAGTGAG TGGCAGGGGCAGGAGAGGGGAGAACCCCATCCTCAGAGCTGCTCCCAGCC AGCGAGTCAGGAGCGGGGGAGACAGGGCTCCAGGGATGAGGCCGCATTCT GCTCCCACAGCGCCTTTTCCAGAAAGTTCCCATTGCTCAATAAATGTGGA TCATCAGAGACATTTATGAACAATGACAGAAGAAAAATTACCCAAATAAA TGTGGAAGCAAGCAAAAGAGAACAGTGTTTCCTTCTTCTCCTGTTTTGTT CTGGTGGTGTGCTTGGGCCGGGTGGGACTGGTGGATGGAAGGAGAAAACA CCAGACTCTGGAGGAAAAGGGCCAAACACCAGGATGCCTGGATGCTGGGA GAGGATCTGGCTTGCAGGGATGAAAATAACAGCTGCCCTGTCTAAAGGAC TTGGCCTGACACATCATCTCCTTCTATCTCTCAATAGCCCTGTGAGAGGT ACCAGCATTATCCCCAGTTTCAGATGAAGGAGTGGCCCAGAGAGGTGACA CCTCCTACCTGAGATCCCATAGCTGGTGGGCGATTGAAGTGGGACCAGAA GCTGGTGTCAGTTGACTCTGACACCCATGCCCCTAAGCCACTCTGCTGTT CTCCATCTGTGTGTCACCTGTGGTCACCTGGCCCAGTCAAATGTCCCAAG TCAGATAAGTCTGTCTGAGCAGGACAAATATAAACAGGCCATGATAAGAA ACAGAACTAAATGCAAAGCGTATTGACTATTTGTGTGGGTTCAACCTTTT CCCAGTAAAAAAGCCCTCTTGGAAAAAAAGAAAAAAAGATAATTAGTCAG CACAATGGACTTCAGGTTTCTGCAAAGTCAGAGAGATGTTCCTCAGAGCT CTATTCATCAAAATATGGCCATTCAGGAAGTTTTCATGTTCCCTGAGTGG TGGCCCATGAGAAATAGCTGGTCAGGACCTCCTCCCCAAGCAAGGCCACC TGAGACTCGCCAGCCCCTGTTTGCATGCTGTCAGCAGTATTTCAGAAGCA TTTGTTGAACACCTATTGCATGCAGATGGCTGGGCTCAGAACTTCGGGGA GTTCGACACTAAGGTCTTTAAATATCTGCTTCCTCCCTGGGGTTAAGTGT GCCGGGAGAATGAAGACTGGCTGTGTGTGGGGAAGTGGATTTCAGGTGGA AGGAGAGGGACTCTGTGGAGAGTTGAAACCATGAGCTGTCTCTCTGTCCC ACGGCTCACCTGTCCATCCCCAGGGCACTCAGCCCTGGTGGCTGCAAAGA AGTTGATGCAGGTAGGGGTGTTCATGGCTCAGAAAGGGGACAAAGGTGCC ATGGAATCCTGCAACTTCAGAATGGGCACCGCCACCCCAAGGCAGAGAAC AGAAAAACTGAAAACCTCACAGTCGAAAGAGAGCCATGAAGAGCTGGAGT CTCCCTCCTCCCCCAGGTTTATAAGAGGGAATAAGAGGCAGCTTCATGGG CTTTGCTGTCCCCAGCTATCTCCCAGCCCAGCCCAGTCTGTATAAGCAAA AGCCCAGGGGTGGGGAAGATGAAAAGCCATCAGGGTGTGGGTGATCGTGG GAGTGGGGGTGAGGAGGATGTTGGAGCATTTTCCATACATCTCAGAAGCC CAGGGAACGGGGCTGTCATAGAACGGGAGATGCATCTGGGGCTGCCGCTT GGTGCCATCTAGGTGGGGTGGGAGAAAGGCAGAGAGAGGAGGTGGGAGAA GACTGTGGGGGGTGCAGCAGCTGGCACCCTCTCCATCGGGCAGAGCAAGT AGGTGTGAATCTCCCATGGGTGAAGCGATCACACGCAAAAAGGAGGGAGA TGGCATCTTTGGAGGGAGGTGGTGATAGGCTGAGACCCCCTCGTTGTCCC CCCCGAAACCTGGTGACCGGAGCTGCCAGGAGGCCACACAGAGAGAGGCT GATGATGGGGGACCTGGAACCTGGAAGGGGCAGAGTGGTCAGATGACCCA CACACGCCTGAGAAAACAGATGTGGAGAGGCTGTGTTGTCATTCTGAGGC AGGAAACAGAGACAGACAGACAGACAGACAGACACCGGCACAGTGAGAGA CAGAGACAGATTCACAGAGCAGAGCTGGCTTCTCACTGGCAGGCATGGGC ACACCTGAGAGAGCATCCAGAGAGGTTAGAAATCTTCCTTAGGTCCTCCT GGGAGGCTCAAGTGGCCCCACCGGGGAGCTGAACAGCTGGCTGGATTTCC AGGGTTGAGAGAAGGAAGCTGCGCAGCCGGCCAGGGCCACATCCCCTGTG CCTCAGGGAGGGACCCCCAGTGTCCCCACCACACTCCCCAGGAGGAGTCC TTGGAGTTGAGGCCACTGCCTGAGTCCTCCAGTGCCAGCCAGCGGAGGTT GCTCCCGTCCCTTGTCTTCCTCCTCCCCATCCTTCTGCCAGCCCTGGAAA GGTCAGAAACCACCATTGCGGAGCTAGAGGGGAAGGAGAGGCAGAACAGA GGGGCCTCTCCTCGCAAAAACTAAAATAAGCCCACAGCCTGTGCAGAACC GCACCCGGGTGTGATCACTCCTTACCCCACACACCCACTGCCACTTGGAG ATGGTTTCACGGCTGCAGTCACAGGGCACCCTGTGTTGTCAGGGGTGAGC CAGCAAGGCCCGGGGCCTGCCCAGGGGTACATTGAGGGTGGAGAAGACCT GGCCCCAGTGCAGGTGTGAACAGGCAGGAGGGCTGGGGAGGGAATAGCGC TGGGTTGTGGCCGAGCCCCCAAGCCCTGCTCTTGAGAGGCACTGGCTACA CACTCGGCCCCTACCCAGACAGGACGCTGATTCCTCCCTGGCCCTTCTGT GTTCCTGCATCTTCCAAGACCCTCACCTCCTCCAGTGCCGCATCAGCTCC AGCCAGGATGCCCCATCAGCTTCTCACCCAAGCTGCTAGAACCTCAGGCT AATAGCCCTGTCATTCCAGCTCACTCCCCCCGTCCCCTTCTGGCTCACTG CCCATCCTGGGCATCCTCCATCAGCCCGCTGAGGGGACTGCTGAGCCTCA GGGACATCTGGCAGCACCAGGAGGTGGGTCCCTCTCTCTGTGGCTCCTCT CTTCACCTGACTGTTCCCCAGACCCCCAGACCACCCCTGCCCAGGTGGCC CCTGAGAACTGCTAAGCTCAACCGTGACATGGATGGGGCCCAGCTGACCC TTGGGCTCTCCCTGGGGGACCCCCTTTTCCTGTCCCTGGCGACACCCTCA CCTTATTCACACCCGTCTCCTCCCTGCTGCCCCGCCGGCTTTCCACTGTG GGTGTCGGGGGGTCAGCTCCTGCCTTGCCAGGGAACCAGGGAAGGCAGTG GGCTCAGGAGTCAAACTCCCATTCCTAGAGAAGACTCAGGCAGTGGGCCC AGCCCTGTTCTGAATTCTCTCCACCCCTCCTCCCCACAGAGTCTCAGAAA TCAAGAAGCTTTCTTCCTCTGGGACCCACGCGTGAAGTCCTATCTCCTGT GACCCTGCAGGTGCTCCCCTCATTTTAAGAGATGATGTGGAGAGAAAGCA CAGGACTGGGGGCCACAGCTTCTCATCCAGGCTCCGCTGCTCCCTGGCTG CTGCATTCCTCTGTGGGCCTCCGTTTCCTCGGTGATCCCACCAGGCGAAT TGTAATCCTCCAGGCAGGGCTGGAACCCATGAGTGATCCCAGGAGCCCCT CCTCTCTGGGGCCTCAAGATCTGAGGACGGTGAGCCAGTTGTACACAGGA GCCGTGCAGGCCAGGACGGTGGCCCCATGGACCTGCCCCCGCAGCTCTCC TTAGCCCTCTATGGGACCACCTGGCTTGTTTCACTTAGCGTAATATTTTA AAGATTCACTCGTGATATAGTACAGCAGTCCCCAAACTTTTTGGCACCAG GGACTGGTTTTGTGGAAAACTATTTTTCCATAGACCTCAGGGGAGTGGGG GGATGGTTTTGGGATGAAACTGTTCCACCTCAGATTGTCAGACATTATTT AGATTGCCATAAGGAGCGCGCAACCTAGATCCCTCGCATGTGCGGTTCAC AATAGGGTTTGCGCTCCTGTGGGAATCTAATGCTGCCGCTGATCTGACAG GAGCTCAGGCGGTCATGCCAGCTTGTCTGCCCACTGCTCACCTCCTGCTG TGTGGCTGGGTTCCTAACAGACCACTCACCTGCACGGGTCTGCAGCCCGG GGTTGGGGAGCTCTGACGCAGTAGGTATAGGCAGCTCATTCCTTTTTATT GCCAAATAGAATTCCAGTGTATGGATGTGCCACTATTTTTATCCACTAAC TAGCAGAAGGGCCTCCAGGTGAGGTTTCCACTTTTAGTTCTTTTTCTTTT TCTTTCTTTTCTTCTTCTTTTTTTTTTTTATACTTTAAGTTCTGGGATAC ATGTGCAGAACATGCAGGTTTGCTACATAGGTATACATGTGCCATGGTGG TTTGCTGCACCCATCAACCCGTCATCTAGGTTTTAAGCCCCACACGCATT AGGTATTTGTACTAATGCTACCCCTCCCCTTGCCGCCCATGCCCCGACAG GCTGCGGTGTGTGATGTTCTCCTCCTTGTGTCCATGTGTTCTCATTGTTC AGCTCCTGCTTATGAGTGAGAACATGCAGTGTTTGGTTTTCTGTTCCTGT GTTAGTTTGCTGAGAATTACTTTTGGTTCTTATGATGTATGCTGCTACAA ACATTGAGGACTGAGTCTTTGCTTAGACAAATGTTTTCACTTATTTTAAA TAAATACCTATGGTGGAATTATTGGATCACATGTTAAATTGATGTTTAAC TTTTTAAGAAACTGCCACCTGCTTTGCAAAGCAGCTGTACCATCTGACAT TCTCAGCAGCAATGAGAGGCCCCTGTTTCTCCACATCCTCACCATCACTT GTTATTGTCTGCCTTTTGCTTATAGCCATTCTAGTGGATGTGAAATGGCA TCATTGTGCTCCGTAAGTATTTGAATGAAGAAATAAATTACCTCTGCACT GGAGAGCACTTGGGTTTGAACCCGGGTGGTGATATTTAATAAGCTGTATC ACCTGGAGCAAGTCACTTCCCCACTGTGAGGCACAAAGGATTTCATGACA ATAGGGGATGCCTTGAGAAGTGGAGTATCTCTGGATCTGTGGATTATATG CCTACCGAAAAGCAGTTGTTATCATCACCACCGCCACCATTATTATTATT ACTGTCACCCCAGAGACATGCCCACACCTGTGACCTGGATGCTGGCAGCT GACAGGTGCTGAACACA	C C	frameshift_variant others(4): Show frameshift_variant stop_lost 3_prime_UTR_truncation exon_loss_variant splice_region_variant	HIGH	HG02602.hp2 HG02602.hp2	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0011 a0012c0013t0011	a0012c0013t0011g0001 a0012c0013t0011g0001	1	385	0.0026	-6466	c.134 others(9): Show c.134_*5558del	p.Arg others(4): Show p.Arg45fs	FFAR3	ENSG00000185897.7	transcript	ENST00000327809.5	protein_coding	2/2	335/1800	134/1041	45/346		chr19	TogoVar
FLG2_chr1_152343735_152365006	152350611	C C	G G	stop_lost stop_lost	HIGH	HG02818.hp2 HG02922.hp2 HG03540.hp1 HG02818.hp2 HG02922.hp2 HG03540.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0008 a0005c0005t0008	a0005c0005t0008g0023 a0005c0005t0008g0023	3	420	0.0071	0	c.717 others(4): Show c.7175G>C	p.Ter others(12): Show p.Ter2392Serext*?	FLG2	ENSG00000143520.6	transcript	ENST00000388718.5	protein_coding	3/3	7248/9124	7175/7176	2392/2391		chr1	TogoVar
FOXD4L1_chr2_113493665_113506150	113500482	A A	G G	stop_lost stop_lost	HIGH	HG00140.hp1 HG00423.hp1 HG00438.hp1 others(98): Show HG00140.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp1 HG01167.hp2 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02165.hp2 HG02300.hp1 HG02523.hp1 HG02572.hp1 HG02698.hp2 HG02717.hp2 HG02818.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03239.hp2 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18944.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18979.hp2 NA18982.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19062.hp2 NA19063.hp1 NA19089.hp1 NA19090.hp1 NA21309.hp2	a0002 a0006 a0007 others(1): Show a0002 a0006 a0007 a0009	a0002c0002 a0002c0005 a0002c0010 others(4): Show a0002c0002 a0002c0005 a0002c0010 a0002c0018 a0006c0011 a0007c0009 a0009c0017	a0002c0002t0002 a0002c0002t0015 a0002c0002t0016 others(6): Show a0002c0002t0002 a0002c0002t0015 a0002c0002t0016 a0002c0005t0002 a0002c0010t0002 a0002c0018t0002 a0006c0011t0002 a0007c0009t0012 a0009c0017t0013	a0002c0002t0002g0000 a0002c0002t0015g0000 a0002c0002t0016g0000 others(6): Show a0002c0002t0002g0000 a0002c0002t0015g0000 a0002c0002t0016g0000 a0002c0005t0002g0000 a0002c0010t0002g0000 a0002c0018t0002g0000 a0006c0011t0002g0000 a0007c0009t0012g0000 a0009c0017t0013g0000	101	324	0.3117	0	c.122 others(4): Show c.1226A>G	p.Ter others(11): Show p.Ter409Trpext*?	FOXD4L1	ENSG00000184492.7	transcript	ENST00000306507.7	protein_coding	1/1	1818/2486	1226/1227	409/408		chr2	TogoVar
FOXD4_chr9_111231_123417	116800	C C	G G	stop_lost stop_lost	HIGH	HG00423.hp1 HG00544.hp1 HG00639.hp1 others(105): Show HG00423.hp1 HG00544.hp1 HG00639.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01256.hp2 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01981.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02273.hp2 HG02293.hp2 HG02572.hp2 HG02738.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03579.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19060.hp2 NA19062.hp1 NA19066.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA20805.hp1	a0002 a0005 a0022 others(2): Show a0002 a0005 a0022 a0025 a0027	a0002c0002 a0002c0016 a0002c0040 others(5): Show a0002c0002 a0002c0016 a0002c0040 a0005c0006 a0005c0038 a0022c0039 a0025c0027 a0027c0043	a0002c0002t0002 a0002c0002t0008 a0002c0002t0011 others(9): Show a0002c0002t0002 a0002c0002t0008 a0002c0002t0011 a0002c0002t0019 a0002c0016t0002 a0002c0040t0002 a0005c0006t0002 a0005c0006t0008 a0005c0038t0022 a0022c0039t0017 a0025c0027t0002 a0027c0043t0008	a0002c0002t0002g0000 a0002c0002t0008g0000 a0002c0002t0011g0000 others(9): Show a0002c0002t0002g0000 a0002c0002t0008g0000 a0002c0002t0011g0000 a0002c0002t0019g0000 a0002c0016t0002g0000 a0002c0040t0002g0000 a0005c0006t0002g0000 a0005c0006t0008g0000 a0005c0038t0022g0000 a0022c0039t0017g0000 a0025c0027t0002g0000 a0027c0043t0008g0000	108	450	0.2400	0	c.132 others(4): Show c.1320G>C	p.Ter others(11): Show p.Ter440Tyrext*?	FOXD4	ENSG00000170122.6	transcript	ENST00000382500.4	protein_coding	1/1	1618/2187	1320/1320	440/439		chr9	TogoVar
GJB2_chr13_20182470_20197938	20188894	CAATGCGT others(3): Show CAATGCGTTAA	C C	frameshift_variant others(1): Show frameshift_variant stop_lost	HIGH	NA18989.hp1 NA18989.hp1	a0013 a0013	a0013c0011 a0013c0011	a0013c0011t0013 a0013c0011t0013	a0013c0011t0013g0041 a0013c0011t0013g0041	1	418	0.0024	-10	c.678 others(16): Show c.678_*6delTTAACGCATT	p.Val others(5): Show p.Val226fs	GJB2	ENSG00000165474.8	transcript	ENST00000382848.5	protein_coding	2/2	865/2290	678/681	226/226		chr13	TogoVar
GLYATL3_chr6_49494923_49533078	49526875	TCTCACCC others(53): Show TCTCACCCCTGCGACTTTCTCTGGCCTGCCTCACCTCTAGCCCAGTAAAA AACTGCAGTGG	T T	stop_lost others(1): Show stop_lost conservative_inframe_deletion	HIGH	NA21309.hp2 NA21309.hp2	a0016 a0016	a0016c0018 a0016c0018	a0016c0018t0014 a0016c0018t0014	a0016c0018t0014g0013 a0016c0018t0014g0013	1	378	0.0026	-60	c.829 others(67): Show c.829_*21delCTCACCCCTGCGACTTTCTCTGGCCTGCCTCACCTCTA GCCCAGTAAAAAACTGCAGTGG	p.Leu others(13): Show p.Leu277_Ter289del	GLYATL3	ENSG00000203972.10	transcript	ENST00000371197.9	protein_coding	6/6	977/2179	829/867	277/288		chr6	TogoVar
GNG14_chr19_12682998_12693422	12688370	T T	G G	stop_lost stop_lost	HIGH	HG01081.hp2 HG01081.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0004	a0005c0006t0004g0000 a0005c0006t0004g0000	1	368	0.0027	0	c.322 others(3): Show c.322T>G	p.Ter others(11): Show p.Ter108Glyext*?	GNG14	ENSG00000283980.1	transcript	ENST00000640151.1	protein_coding	1/1	373/425	322/324	108/107		chr19	TogoVar
GOLGA6L22_chr15_22453903_22474226	22466823	T T	C C	stop_lost others(1): Show stop_lost splice_region_variant	HIGH	HG00597.hp2 HG00673.hp2 HG02027.hp1 others(27): Show HG00597.hp2 HG00673.hp2 HG02027.hp1 HG02040.hp1 HG02083.hp1 HG02165.hp1 HG02886.hp2 NA18944.hp1 NA18947.hp1 NA18957.hp2 NA18966.hp1 NA18969.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18978.hp2 NA18980.hp2 NA18990.hp1 NA18999.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19012.hp1 NA19012.hp2 NA19060.hp1 NA19072.hp1 NA19080.hp1 NA19080.hp2 NA19088.hp1 NA19090.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0006	a0001c0001t0001 a0002c0002t0002 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0002 a0003c0003t0001 a0005c0006t0003	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0016 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0016 a0002c0002t0002g0002 a0003c0003t0001g0001 a0005c0006t0003g0031	30	224	0.1339	0	c.256 others(4): Show c.2563T>C	p.Ter others(11): Show p.Ter855Glnext*?	GOLGA6L22	ENSG00000277865.6	transcript	ENST00000622895.2	protein_coding	8/9	2654/4401	2563/2565	855/854		chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23439745	T T	G G	stop_lost stop_lost	HIGH	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0025 a0001c0038t0025	a0001c0038t0025g0062 a0001c0038t0025g0062	1	394	0.0025	0	c.273 others(4): Show c.2730A>C	p.Ter others(11): Show p.Ter910Tyrext*?	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2792/3499	2730/2730	910/909		chr15	TogoVar
GOLGA6L6_chr15_20526856_20546800	20534261	A A	G G	stop_lost others(1): Show stop_lost splice_region_variant	HIGH	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0072 a0001c0001t0012g0072	1	212	0.0047	0	c.217 others(4): Show c.2173T>C	p.Ter others(11): Show p.Ter725Glnext*?	GOLGA6L6	ENSG00000277322.1	transcript	ENST00000619213.1	protein_coding	8/9	2264/4013	2173/2175	725/724		chr15	TogoVar

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