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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
VPS53_chr17_503668_719839	548533	C C	CATCCAAC others(189): Show CATCCAACAACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATC ATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCA TCCAACAACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAATAT CCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0055 a0001c0011t0055	a0001c0011t0055g0091 a0001c0011t0055g0091	1	154	0.0065	196	c.186 others(215): Show c.1866+3338_1866+3339insATTTCCAGAAGGACTGTTGGCTGGCC AAAGTGGAGTGTAGTCGTTGGATATTTCCAGAAGGACTGTTGGCTGGCCA AAGTGGAGTGTAGTTGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAA AGTGGAGTGTAGTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAA GTGGAGTGTAGTTGTTGGAT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	548621	C C	CTTCTGGA others(189): Show CTTCTGGAATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCC TTCTGGAAATATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCT TCTGGAATCATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTT CTGGAATCATCCAACGACTACACTCCACTTTGGCCAGCCAGCAGTCA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0039 a0002c0003t0039	a0002c0003t0039g0176 a0002c0003t0039g0176	1	119	0.0084	196	c.186 others(215): Show c.1866+3250_1866+3251insTGACTGCTGGCTGGCCAAAGTGGAGT GTAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTG TAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGT AGTCGTTGGATATTTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTA GTCATTGGATGATTCCAGAA	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	548621	C C	CTTCTGGA others(189): Show CTTCTGGAATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCC TTCTGGAAATATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCT TCTGGAATCATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTT CTGGAATCATCCAATGACTACACTCCACTTTGGCCAGCCAGCAGTCA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0019 a0002c0003t0019	a0002c0003t0019g0231 a0002c0003t0019g0231	1	119	0.0084	196	c.186 others(215): Show c.1866+3250_1866+3251insTGACTGCTGGCTGGCCAAAGTGGAGT GTAGTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTG TAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGT AGTCGTTGGATATTTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTA GTCATTGGATGATTCCAGAA	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS8_chr3_184807166_185057604	184895614	C C	CCCCCCCT others(189): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTC CCCCCTCCTCCTCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCCTCCT	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA20129.hp1 HG03486.hp2 NA20129.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0026 a0003c0005t0001g0027 a0003c0005t0001g0026 a0003c0005t0001g0027	2	212	0.0094	196	c.200 others(213): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCT CCCCCCTCCTCCTCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCC CCCCTCCTCCTCCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
WDR87_chr19_37879823_37911594	37881047	A A	ATATATAA others(189): Show ATATATAATATATATATATATTATATATATATAATATATATATTATATAT ATATTATATATATATAATATATATTATATATATATAATATATATATAATA TATATATATAATATATAATATATATATTATATATATATAATATATATATA TATATATATATATTATATATATATTATATATATATAATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	147	0.0068	196	c.38 others(207): Show c.3884_*3885insAATATATATATTATATATATATAATATATATATA ATATATATATATATATATATATATTATATATATATAATATATATATTATA TATTATATATATATATTATATATATATTATATATATATAATATATATTAT ATATATATAATATATATATAATATATATATTATATATATATAATATATAT ATATATTATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3775		chr19	TogoVar
XRCC2_chr7_152639776_152681141	152674710	T T	TAATATAT others(189): Show TAATATATTTTTAAATATATATTTATATAATATATTTTTAAATATATATT ATATATAATATATATTTAAATATATATTATATATAATATATTTTTAAATA TATATTATATATAATATATATTTAAAAATATATTATATAAATATATTTTA AAATATGTATTATATATAAATATATTTTTAAATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA19066.hp2 NA19076.hp2 others(1): Show HG00609.hp1 NA19066.hp2 NA19076.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0017 a0001c0001t0001g0109 a0001c0001t0001g0110	4	70	0.0571	196	c.39+ others(211): Show c.39+1330_39+1331insTATATATAATATATATTTAAAAATATATTT ATATATAATACATATTTTAAAATATATTTATATAATATATTTTTAAATAT ATATTATATATAATATATATTTAAAAATATATTATATATAATATATATTT AAATATATATTATATATAATATATATTTAAAAATATATTATATAAATATA TATTTAAAAATATATT	XRCC2	ENSG00000196584.4	transcript	ENST00000359321.2	protein_coding	1/2			chr7	TogoVar
XXYLT1_chr3_195063284_195276159	195106254	C C	CGTTTTTG others(189): Show CGTTTTTGATGGAGAGATGCTCTTGTTGTGTTTTTGATGGAGAGATGCTC TTGTTGTGTTTTTGATGGAGAGATGCTCTTGTTGTGTTTTTGATGGAGAG ATGCTCTTGTTGTGTTTTTGATGGAGAGATGCTCTTGTTGTGTTTTTGAT GGAGAGATGCTCTTGTTGTGTTTTTGATGGAGAGATGCTCTTGTTGT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0076 a0001c0001t0022g0076	1	192	0.0052	196	c.786 others(215): Show c.786-36144_786-36143insACAACAAGAGCATCTCTCCATCAAAA ACACAACAAGAGCATCTCTCCATCAAAAACACAACAAGAGCATCTCTCCA TCAAAAACACAACAAGAGCATCTCTCCATCAAAAACACAACAAGAGCATC TCTCCATCAAAAACACAACAAGAGCATCTCTCCATCAAAAACACAACAAG AGCATCTCTCCATCAAAAAC	XXYLT1	ENSG00000173950.16	transcript	ENST00000310380.11	protein_coding	3/3			chr3	TogoVar
ZMAT4_chr8_40525590_40902826	40792643	G G	GGAGGGGA others(189): Show GGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGGGGAGAGGAGGAGAGG GGAGGGGAGGAGAGGGGAGGGGAGGAGAGGGGAGGGGAGGAGAGGGGAGG GGAGGGGAGGGAAGGAGAGGGTAGAGGAGGAGAGGGGAGGGGAGGAGAGG GGAGGGGAGGAGAGGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGGA	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	4	0.2500	196	c.103 others(215): Show c.103-24914_103-24913insTCCTCCTCTCCCCTCCCCTCCCCTCC CCTCCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCTCTA CCCTCTCCTTCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTC CCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCTCTCCCCTCCCCTCCCCTC TCCTCCCCTCCCCTCCCCTC	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	2/6			chr8	TogoVar
ZMYND8_chr20_47204214_47361699	47225596	A A	AGGAAGGG others(189): Show AGGAAGGGGAAGGGAGGGGAATGAAGGGGAAGGAAGGGGAAGGGAGGGGA AGGGAGGGGAAGGGAGGGGAAGGGAGGGGAAGGGAGGGGAAGGGAGGGGA AGGGAGGGGAAGGGAGGGGAAGGGAGGGGAAGGGAGGGGAAGGGAGGGGA AGGGAGGGGAGGAGGGAAAGGGAGGGCAGGGGGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01346.hp1 HG01361.hp1 others(4): Show HG01175.hp1 HG01346.hp1 HG01361.hp1 HG02132.hp2 HG02280.hp2 HG04199.hp1 NA18991.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0002 a0005c0007t0002 a0001c0001t0002 a0005c0007t0002	a0001c0001t0002g0060 a0001c0001t0002g0095 a0001c0001t0002g0120 others(4): Show a0001c0001t0002g0060 a0001c0001t0002g0095 a0001c0001t0002g0120 a0001c0001t0002g0127 a0001c0001t0002g0132 a0001c0001t0002g0154 a0005c0007t0002g0047	7	45	0.1556	196	c.301 others(215): Show c.3017-1041_3017-1040insCCTCCCCTCCCCTCCCCCCTGCCCTC CCTTTCCCTCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCTTCCCCTCCC TTCCCCTCCCTTCCCCTCCCTTCCCCTCCCTTCCCCTCCCTTCCCCTCCC TTCCCCTCCCTTCCCCTCCCTTCCCCTCCCTTCCCCTTCCTTCCCCTTCA TTCCCCTCCCTTCCCCTTCC	ZMYND8	ENSG00000101040.20	transcript	ENST00000471951.7	protein_coding	18/22			chr20	TogoVar
ZNF182_chrX_47969851_48008989	47971402	T T	TGTATACA others(189): Show TGTATACATATGTATATACACGTGTATACGTATACATATGTATATACACG TGTATACGTATACATATGTATATACACGTGTATACGTATACATATGTATA TACACGTGTATACGTATACATATGTATATACACGTGTATACGTATACATA TGTATATACACGTGTATACGTATACATATGTATATACACGTGTATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01168.hp1 HG01169.hp2 others(13): Show HG00741.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01346.hp1 HG01515.hp1 HG02148.hp2 HG02683.hp1 HG02735.hp1 HG03239.hp1 HG03704.hp1 HG04115.hp1 NA18969.hp2 NA19004.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 a0001c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0035 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0001g0108 a0001c0001t0005g0012 a0001c0001t0005g0098 a0001c0001t0005g0102 a0001c0001t0013g0101 a0001c0004t0001g0105	16	234	0.0684	196	c.47 others(207): Show c.4764_*4765insGTATACACGTGTATATACATATGTATACGTATAC ACGTGTATATACATATGTATACGTATACACGTGTATATACATATGTATAC GTATACACGTGTATATACATATGTATACGTATACACGTGTATATACATAT GTATACGTATACACGTGTATATACATATGTATACGTATACACGTGTATAT ACATATGTATAC	ZNF182	ENSG00000147118.12	transcript	ENST00000376943.8	protein_coding		3448		chrX	TogoVar
ZNF182_chrX_47969851_48008989	47971402	T T	TGTATACA others(189): Show TGTATACATATGTATATACACGTGTATACGTATACATATGTATATACACG TGTATACGTATACATATGTATATACACGTGTATACGTATACATATGTATA TACACGTGTATACGTATACATGTGTATATACACGTGTATACGTATACATA TGTATATACACGTGTATACGTATACATATGTATATACACGTGTATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	219	0.0046	196	c.47 others(207): Show c.4764_*4765insGTATACACGTGTATATACATATGTATACGTATAC ACGTGTATATACATATGTATACGTATACACGTGTATATACACATGTATAC GTATACACGTGTATATACATATGTATACGTATACACGTGTATATACATAT GTATACGTATACACGTGTATATACATATGTATACGTATACACGTGTATAT ACATATGTATAC	ZNF182	ENSG00000147118.12	transcript	ENST00000376943.8	protein_coding		3448		chrX	TogoVar
ZNF253_chr19_19860882_19899674	19891007	A A	ATTTTTTT others(189): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	361	0.0028	196	c.227 others(211): Show c.227-461_227-460insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG CGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCG GCTAATTTTTTTTTTT	ZNF253	ENSG00000256771.5	transcript	ENST00000589717.2	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF641_chr12_48332180_48355919	48332473	T T	TCCACCTC others(189): Show TCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01255.hp2 HG03654.hp2 HG01175.hp2 HG01255.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0015 a0001c0001t0013g0015	3	236	0.0127	196	c.10 others(209): Show c.10499_*10500insGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGG	ZNF641	ENSG00000167528.13	transcript	ENST00000547026.6	protein_coding		4706		chr12	TogoVar
ZNF804B_chr7_88754700_89343528	89219994	T T	TATATGCA others(189): Show TATATGCATATACATATATGTGTGCATATATATGTATATACATATATGTG TGCATATATATGTATATACATATATGTGTGCATATATATGTATATACATA TATGTGTGCATATATATGTATATACATATATGTGTGCATATATGTATATA CATATATGTGTGTATACATATATATGCACACATATATGTGTGTATAC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0145 a0005c0006t0001g0145	1	153	0.0065	196	c.249 others(213): Show c.249+1701_249+1702insATGCATATACATATATGTGTGCATATAT ATGTATATACATATATGTGTGCATATATATGTATATACATATATGTGTGC ATATATATGTATATACATATATGTGTGCATATATATGTATATACATATAT GTGTGCATATATGTATATACATATATGTGTGTATACATATATATGCACAC ATATATGTGTGTATACAT	ZNF804B	ENSG00000182348.7	transcript	ENST00000333190.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF862_chr7_149833375_149872479	149859034	A A	ACGTGCGT others(189): Show ACGTGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACGTGCGTGGGCCAGCT GTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCA CACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTG TGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0021 a0001c0004t0021	a0001c0004t0021g0256 a0001c0004t0021g0256	1	409	0.0024	196	c.111 others(213): Show c.1118-387_1118-386insGTGCGTGGGCCAGCTGTGGGGGCAGAGG GGCACGTGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCA GCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGG GCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAG CTGTGGGGGCAGAGGGGC	ZNF862	ENSG00000106479.11	transcript	ENST00000223210.5	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZSCAN5A_chr19_56216303_56319839	56237982	C C	CACACGGA others(189): Show CACACGGACACATGGACACACACATGAACACATGGACACACACGAACACA CACCTACACACACGTGGACACACACGGACACATGGACACACACGAACACA TGGACACACACACGGGGACACACACGGACACACACAGAGACACACACGGA CACATAGAAACACACGAACACACACCCACACCCACACACACACACGG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	292	0.0034	196	c.-12 others(217): Show c.-127-12810_-127-12809insCCGTGTGTGTGTGTGGGTGTGGGT GTGTGTTCGTGTGTTTCTATGTGTCCGTGTGTGTCTCTGTGTGTGTCCGT GTGTGTCCCCGTGTGTGTGTCCATGTGTTCGTGTGTGTCCATGTGTCCGT GTGTGTCCACGTGTGTGTAGGTGTGTGTTCGTGTGTGTCCATGTGTTCAT GTGTGTGTCCATGTGTCCGTGT	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56302581	C C	CTCCCTCC others(189): Show CTCCCTCCCCCCTTCCTTTTCTTCCTCCCCCTTTTCTTCCTCTCCCTCTT CTTCCTCTCCCTCTTCCTCCCTCCCTCCTCCTCCCTTCCTTTTCTTCCCC CCCTCCCTGTTCTTTCCTTCCTCCCTCCCTCCCTCTTCTTCCTCCCCGTT CCTCCCTCCCTCCCCCCTTCCTTTTCTTCCTCCCTCCCTCCCCCCTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	282	0.0035	196	c.-12 others(217): Show c.-128+10701_-128+10702insAAGGGGGGAGGGAGGGAGGAAGAA AAGGAAGGGGGGAGGGAGGGAGGAACGGGGAGGAAGAAGAGGGAGGGAGG GAGGAAGGAAAGAACAGGGAGGGGGGGAAGAAAAGGAAGGGAGGAGGAGG GAGGGAGGAAGAGGGAGAGGAAGAAGAGGGAGAGGAAGAAAAGGGGGAGG AAGAAAAGGAAGGGGGGAGGGA	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ACTRT3_chr3_169761921_169774561	169770604	T T	TATAAATA others(190): Show TATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTT ATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG03139.hp1 HG02055.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0001 a0001c0001t0001g0023	2	416	0.0048	197	c.-10 others(208): Show c.-1085_-1084insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATTTATGATATATAAATATAAATTTTTATTTA TGATATATAAATATAAATTTTTATATATTTATGATATATAAATATAAATT TTTATATATTTAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1044		chr3	TogoVar
ADGRE2_chr19_14727392_14783560	14749811	G G	GTAATTAT others(190): Show GTAATTATTTATAGTTACATAATTATAGCTATGTTATGTAATTATTTATA GTTACATAATTATAGCTATGTTATGTAATTATTTATAGTTACATAATTAT TTATAGCTATGTTATGTAATTATTTATAGTTACATAATTATTTATAGCTA TGTTATATAATTATTTATAGTTACATAATTATTTATAGCTATGTTATA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0020 a0020	a0020c0044 a0020c0044	a0020c0044t0009 a0020c0044t0009	a0020c0044t0009g0128 a0020c0044t0009g0128	1	216	0.0046	197	c.202 others(216): Show c.2024+1624_2024+1625insTATAACATAGCTATAAATAATTATGT AACTATAAATAATTATATAACATAGCTATAAATAATTATGTAACTATAAA TAATTACATAACATAGCTATAAATAATTATGTAACTATAAATAATTACAT AACATAGCTATAATTATGTAACTATAAATAATTACATAACATAGCTATAA TTATGTAACTATAAATAATTA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	16/20			chr19	TogoVar
ADGRL3_chr4_61195326_62083335	61847988	A A	ATATATAA others(190): Show ATATATAATATAAAATATATTATATATAATATAAAATATATTATATATAA TATAAAATATATTATACATATAATATAAAATATATTATACATATAATATA AAATATATTATATATATAATATAAAATATATTATATATATAATATAAAAT ATATTATATATATAATATAAAATATATTATATATAATATAAAATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0012 a0001c0004t0009g0012	1	54	0.0185	197	c.148 others(218): Show c.1480+34105_1480+34106insATATAAAATATATTATATATAATA TAAAATATATTATATATAATATAAAATATATTATACATATAATATAAAAT ATATTATACATATAATATAAAATATATTATATATATAATATAAAATATAT TATATATATAATATAAAATATATTATATATATAATATAAAATATATTATA TATAATATAAAATATATTATATA	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
AGRN_chr1_1015120_1061116	1030806	G G	GATCAGCA others(190): Show GATCAGCATGTGTGTGTGCAGTGCATGGTGCTGTGAGATCAGCGTGTGTG TGTGTGCAGTGCATGGTGCTGTGTGAGATCAGCATGTGTGTGTGTGCAGT GCATGGTGCTGTGTGAGATCAGCATGTGTGTGTGTGTGCAGTGCATGGTG CTGAGTGTGAGATCAGCATGTGTGTGCAGTGCATGGTGCTGTGAGTGT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02165.hp2 NA18963.hp2 others(1): Show HG02080.hp1 HG02165.hp2 NA18963.hp2 NA19066.hp2	a0001 a0026 a0001 a0026	a0001c0001 a0026c0040 a0001c0001 a0026c0040	a0001c0001t0001 a0026c0040t0001 a0001c0001t0001 a0026c0040t0001	a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0145 others(1): Show a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0145 a0026c0040t0001g0146	4	208	0.0192	197	c.464 others(214): Show c.464-4359_464-4358insTGAGATCAGCATGTGTGTGTGTGTGCAG TGCATGGTGCTGAGTGTGAGATCAGCATGTGTGTGCAGTGCATGGTGCTG TGAGTGTATCAGCATGTGTGTGTGCAGTGCATGGTGCTGTGAGATCAGCG TGTGTGTGTGTGCAGTGCATGGTGCTGTGTGAGATCAGCATGTGTGTGTG TGCAGTGCATGGTGCTGTG	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr1	TogoVar
AMFR_chr16_56356452_56430545	56406039	G G	GGGAGGGG others(190): Show GGGAGGGGGGGAGGGGGAGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAG GGGAGAGGGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGAAGGG GGAGGGGAGGGGGGGGAGGGGGGAGAGGGGGAGGGGAGGGGGGAGAGGGG GAGGGGAGGGGGAGAGGGGGGAGGGGAGAGGGGAGGAGAGAAGGGAGA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0057 a0001c0001t0018g0057	1	353	0.0028	197	c.667 others(212): Show c.667-796_667-795insTCTCCCTTCTCTCCTCCCCTCTCCCCTCCC CCCTCTCCCCCTCCCCTCCCCCTCTCCCCCCTCCCCTCCCCCTCTCCCCC CTCCCCCCCCTCCCCTCCCCCTTCCCCCTCTCCCCCCTCTCCCCCTCTCC CCCCTCTCCCCCTCTCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCC TCCCCCTCCCCCCCTCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(190): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGGGAGGGGGGAG AGGGGGAGGGGAGGGGGGAGAGGGGGAGGGGAGGGGGAGAGGGGGGAGGG GAGAGGGGAGAGAGAAGGGAGAGAGGGGGGAGGGGGGGAGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG01074.hp1 others(6): Show HG00408.hp1 HG00423.hp2 HG01074.hp1 HG01106.hp1 HG01168.hp1 HG01358.hp1 HG03669.hp2 HG03710.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0001t0002 a0001c0001t0008 a0001c0001t0011	a0001c0001t0002g0049 a0001c0001t0002g0077 a0001c0001t0002g0078 others(6): Show a0001c0001t0002g0049 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0133 a0001c0001t0008g0097 a0001c0001t0008g0113 a0001c0001t0008g0132 a0001c0001t0011g0064	9	44	0.2045	197	c.667 others(212): Show c.667-817_667-816insTCTCCCCTCTCCCCCCCTCCCCCCTCTCTC CCTTCTCTCTCCCCTCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCTCT CCCCCCTCCCCTCCCCCTCTCCCCCCTCCCCCCCTCCCCTCCCCCTTCCC CCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCTCTCCCC CCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(190): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGGGGAGGGGGGA GAGGGGGAGGGGAGGGGGGAGAGGGGGAGGGGAGGGGGAGAGGGGGGAGG GGAGAGGGGAGAGAGAAGGGAGAGAGGGGGGAGGGGGGAGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	36	0.0278	197	c.667 others(212): Show c.667-817_667-816insTCTCCCCTCTCCCCCCTCCCCCCTCTCTCC CTTCTCTCTCCCCTCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCTCTC CCCCCTCCCCTCCCCCTCTCCCCCCTCCCCCCCCTCCCCTCCCCCTTCCC CCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCTCTCCCC CCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
ANGEL1_chr14_76781009_76817882	76793391	A A	AGGAGGGG others(190): Show AGGAGGGGAGAGGGGAGAGGAGGGGAGGGTAGGGGAGGGGAGGGGAGAGG AGGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGAGGAGGGGAGGGGAGAGG AGGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGGGGAGAGGAGGGGAGGGG AGGGGAGGGGAGAGGAGGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03209.hp1 NA20300.hp1 HG03098.hp2 HG03209.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146	3	53	0.0566	197	c.161 others(216): Show c.1619-2026_1619-2025insCCTCCCCTCCCCTCCTCTCCCCTCCC CTCCCCTCCTCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCC CTCCTCTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCTCTCCCCTCCC CTCCTCTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCCTACCCTCCC CTCCTCTCCCCTCTCCCCTCC	ANGEL1	ENSG00000013523.11	transcript	ENST00000251089.8	protein_coding	7/9			chr14	TogoVar
AP3D1_chr19_2095988_2156566	2128442	G G	GCACTGCA others(190): Show GCACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCC CGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCG GCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCA CAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0187 a0001c0003t0002g0187	1	298	0.0034	197	c.806 others(212): Show c.806+647_806+648insTCGGAGCTGTGGGGCGGGCCGGCTCCACGG GGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTC GGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGG GGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGG CTCCACGGGGTGCAGTG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128475	C C	CGCTCCGA others(190): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACA CTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCG TGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCC CGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0317 a0001c0002t0001g0317	1	284	0.0035	197	c.806 others(212): Show c.806+614_806+615insTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTG TGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGC CGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACG GGGTGCAGTGTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128514	A A	AGCTCCGA others(190): Show AGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACA CTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGT GGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCTGGCCC GCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0369 a0001c0001t0003g0369	1	308	0.0032	197	c.806 others(212): Show c.806+575_806+576insGGCGGGGGCGGGCCGGCTCCACGGGGTGCA GTGTCGGAGCTGTGGGGCGGGCCAGCTCCACGGGGTGCAGTGTCGGAGCT GTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGC CGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACG GGGTGCAGTGTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128903	C C	CCCCACAG others(190): Show CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCCGCCGC TCCGACACTGCACCCCGTGGAGCTGGCCCGCCCCACAGCTCCGACACTGC ACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAG CCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCTGGCCCG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0283 a0001c0002t0001g0283	1	394	0.0025	197	c.806 others(212): Show c.806+186_806+187insCGGGCCAGCTCCACGGGGTGCAGTGTCGGA GCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGC GGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCAGCTCC ACGGGGTGCAGTGTCGGAGCGGCGGGGGGCGGGCCGGCTCCACGGGGTGC AGTGTCGGAGCTGTGGG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP4S1_chr14_31020649_31101450	31036969	T T	TGCCCGGC others(190): Show TGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTG GCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0250 a0001c0001t0032g0250	1	342	0.0029	197	c.-72 others(216): Show c.-72+11198_-72+11199insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGAC TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCC ACCGCGCCCGGCTAATTTTTT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(190): Show AATATATATTATATATATAATTGTATATATAATATATATTATATATAATT GTATATATAATATATATTATATATAATTGTATATAATATATATTATATAT AATTGTATATATAATATATATTATATATATAATTGTATATATAATATATA TTATATATATAATTGTATATATAATATATATTATATATATAATTGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	34	0.0294	197	c.-12 others(208): Show c.-1255_-1254insATATATATTATATATATAATTGTATATATAATAT ATATTATATATAATTGTATATATAATATATATTATATATAATTGTATATA ATATATATTATATATAATTGTATATATAATATATATTATATATATAATTG TATATATAATATATATTATATATATAATTGTATATATAATATATATTATA TATATAATTGTAT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
ARFGAP1_chr20_63267813_63294790	63294172	C C	CGGGGGGA others(190): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGC GGGGGGAGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGTG GGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGG GGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCGGAGGAGCGGGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01106.hp2 HG01109.hp1 others(8): Show HG00323.hp2 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG02004.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG04228.hp2 NA19074.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0216 a0001c0003t0002g0217 a0001c0003t0002g0218 others(8): Show a0001c0003t0002g0216 a0001c0003t0002g0217 a0001c0003t0002g0218 a0001c0003t0002g0220 a0001c0003t0002g0221 a0001c0003t0002g0222 a0001c0003t0002g0223 a0001c0003t0002g0224 a0001c0003t0002g0225 a0001c0003t0002g0226 a0001c0003t0002g0227	11	18	0.6111	197	c.62 others(208): Show c.6299_*6300insGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGCGG GGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGAGGGGAGTGCGGG GGGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAG GGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCGGA GGAGCGGGAGTGT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4383		chr20	TogoVar
ARHGAP8_chr22_44747575_44867784	44800530	A A	ACCCCTCC others(190): Show ACCCCTCCCCGCAGCTGTCCGTGTGTGGGGGGCGCCCCTCCCCGCAGCTG TCCGTGTGTGGGGGCACCTCTCCCCGCAGCTGTCCGTGTGTGGGGGCCGC CTCTCCCCGCAGCTGTCCGTGTGTGGGGGCCGCCTCTCCCCGCAGCTGTC CGTGTGTGGGGGGCGCCCCTCCCCGCAGCTGTCCCTGTGTGGGGGGCG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01358.hp2 HG02109.hp1 HG01255.hp2 HG01358.hp2 HG02109.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0032 a0001c0001 a0011c0032	a0001c0001t0003 a0011c0032t0001 a0001c0001t0003 a0011c0032t0001	a0001c0001t0003g0342 a0011c0032t0001g0288 a0011c0032t0001g0366 a0001c0001t0003g0342 a0011c0032t0001g0288 a0011c0032t0001g0366	3	376	0.0080	197	c.80- others(212): Show c.80-1528_80-1527insGTGTGTGGGGGGCGCCCCTCCCCGCAGCTG TCCGTGTGTGGGGGCACCTCTCCCCGCAGCTGTCCGTGTGTGGGGGCCGC CTCTCCCCGCAGCTGTCCGTGTGTGGGGGCCGCCTCTCCCCGCAGCTGTC CGTGTGTGGGGGGCGCCCCTCCCCGCAGCTGTCCCTGTGTGGGGGGCGCC CCTCCCCGCAGCTGTCC	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ARHGDIG_chr16_275591_288010	285931	C C	CCCCAACC others(190): Show CCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACACCAACCCCGCGGT TCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTC CCAACCCCAACCCCAACACCAACCCCGCGGTTCTCCCAACCCCAACCCCA ACACCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG03195.hp1 HG02145.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0042 a0001c0001t0018g0043 a0001c0001t0018g0042 a0001c0001t0018g0043	2	386	0.0052	197	c.31 others(208): Show c.3117_*3118insCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAA CACCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCC AACCCCGCGGTTCTCCCAACCCCAACCCCAACACCAACCCCGCGGTTCTC CCAACCCCAACCCCAACACCAACCCCGCGGTTCTCCCAACCCCAACCCCA ACCCCGCGGTTCT	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding		2922		chr16	TogoVar
ARL13B_chr3_93975155_94060678	94043554	C C	CCCCCTCC others(190): Show CCCCCTCCCCCCTCCTCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCC CCTCCCCCTCCTCCCCCTTCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCCTCCCCCTCTCCCCCT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	258	0.0039	197	c.102 others(214): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCTTCCCCTCCCTCC CCCTCCCTCCCCCTCCCCCTCCCCCTCCTCCCCCTTCCCCTCCCCCTCCC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCC TCCCCCTCTCCCCCTCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(190): Show TGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGG AGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGG GTCAGAGCAGAGGTGGAGGTGGGAACGTTGGGGTCAGAGCAGAGGTGGAG GTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGG	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	76	0.0132	197	c.955 others(214): Show c.955-6211_955-6210insAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGAACGTTGGGGTCAGAGCAGAGGTGGAGGT GGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AXIN1_chr16_282440_357723	285931	C C	CCCCAACC others(190): Show CCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACACCAACCCCGCGGT TCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTC CCAACCCCAACCCCAACACCAACCCCGCGGTTCTCCCAACCCCAACCCCA ACACCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG03195.hp2 HG02145.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0362 a0001c0003t0001g0363 a0001c0003t0001g0362 a0001c0003t0001g0363	2	323	0.0062	197	c.21 others(208): Show c.2190_*2191insAGAACCGCGGGGTTGGGGTTGGGGTTGGGAGAAC CGCGGGGTTGGTGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGTGTT GGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGAGAACCGCGGGG TTGGGGTTGGGAGAACCGCGGGGTTGGTGTTGGGGTTGGGGTTGGGAGAA CCGCGGGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1508		chr16	TogoVar
B4GALNT4_chr11_364499_387117	374688	G G	GAGGGAGG others(190): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAGG GAGGAGGAAGGGAGGGAGGAAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0002 a0004c0014t0002	a0004c0014t0002g0051 a0004c0014t0002g0051	1	155	0.0065	197	c.784 others(212): Show c.784-766_784-765insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGA GGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	385595	G G	GCAAGACC others(190): Show GCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACT CCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGA ACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCC GGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0015 a0015	a0015c0041 a0015c0041	a0015c0041t0001 a0015c0041t0001	a0015c0041t0001g0030 a0015c0041t0001g0030	1	182	0.0055	197	c.38 others(208): Show c.3803_*3804insCAAGACCCACTCCCAGGCCTGGAACCCCCACAGC CGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCC ACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCT GGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACA GCCGGGCAAGACC	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding		3479		chr11	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(190): Show GGGAGGGAGAGAGGGGAGGGGGGAGGGGGAGGGAGGGAGAGGGGGGGAGG GGGGAGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGG GGAGGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGAGATGG ACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGTGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0089 a0001c0005t0011g0089	1	2	0.5000	197	c.51+ others(210): Show c.51+438_51+439insTCCCCAGTCCATCCACCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCCCCTCCCCCCTCCCCCT CCCCCTCCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTC CCCCCTCCCCCTCCCCCCTCCCCCCCTCTCCCTCCCTCCCCCTCCCCCCT CCCCTCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BCAS3_chr17_60672851_61397831	61045884	T T	TATATAAA others(190): Show TATATAAATATATATTTATATATATTATATATATATATTATATATATAAA TATATATATTATATATATATTATATATATATATAATATATATATTTATAT ATATATAATATATATATTTATATATATAATATATATATTTATATATATAT ATAATATATATAATATATATATTTATATATATAATATATATATTTATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0002 a0003c0001t0002	a0003c0001t0002g0022 a0003c0001t0002g0022	1	61	0.0164	197	c.202 others(216): Show c.2029+4992_2029+4993insATATAAATATATATTTATATATATTA TATATATATATTATATATATAAATATATATATTATATATATATTATATAT ATATATAATATATATATTTATATATATATAATATATATATTTATATATAT AATATATATATTTATATATATATATAATATATATAATATATATATTTATA TATATAATATATATATTTATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23			chr17	TogoVar
C10orf90_chr10_126419997_126675693	126564835	T T	TATATATA others(190): Show TATATATATAATATATATAATATATAATATATATTATATATAATATATAT TATATATAATATATAATATATATTATATATAATATATATTATATATAATA TATATTATATATAATATATATTATATATTATATAAAATATATATTATATA TAATATATATTATATATTATATATAATATATAATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp1 HG03225.hp2 others(1): Show HG02572.hp1 HG02622.hp1 HG03225.hp2 HG03516.hp2	a0002 a0003 a0002 a0003	a0002c0011 a0003c0002 a0002c0011 a0003c0002	a0002c0011t0002 a0002c0011t0003 a0003c0002t0001 others(1): Show a0002c0011t0002 a0002c0011t0003 a0003c0002t0001 a0003c0002t0005	a0002c0011t0002g0162 a0002c0011t0003g0010 a0003c0002t0001g0014 others(1): Show a0002c0011t0002g0162 a0002c0011t0003g0010 a0003c0002t0001g0014 a0003c0002t0005g0169	4	69	0.0580	197	c.314 others(216): Show c.314-50897_314-50896insTATATATAATATATATTATATATTAT ATATAATATATAATATATATTATATATAATATATATTTTATATAATATAT AATATATATTATATATAATATATATTATATATAATATATATTATATATAA TATATATTATATATTATATATAATATATATTATATATAATATATATTATA TATTATATATATTATATATAT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126564835	T T	TATATATA others(190): Show TATATATATAATATATATAATATATATTATATATTATATATAATATATAT TATATATAATATATAATATATATTATATATAATATATATTATATATAATA TATATTATATATAATATATATTATATATTATATAAAATATATATTATATA TAATATATATTATATATTATATATAATATATAATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0007 a0005c0006t0001g0007	1	66	0.0152	197	c.314 others(216): Show c.314-50897_314-50896insTATATATAATATATATTATATATTAT ATATAATATATAATATATATTATATATAATATATATTTTATATAATATAT AATATATATTATATATAATATATATTATATATAATATATATTATATATAA TATATATTATATATTATATATAATATATATTATATATAATATATAATATA TATTATATATATTATATATAT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C1QTNF12_chr1_1237453_1251722	1249075	G G	GGGACACG others(190): Show GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGG GAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTG GGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	326	0.0031	197	c.-23 others(208): Show c.-2386_-2385insGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCC TCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTG GGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGG CCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGG GCTGCCCGTGTCC	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2354		chr1	TogoVar
C2CD4C_chr19_400445_414147	404013	T T	TCCTGCCC others(190): Show TCCTGCCCCGAGGGGTGTGGGGGGGGGACGGGGTCCTGCCCCGAGGGGTG TGAGGGGGGGACGGGGCCCTGCCCTGAGGGGTGTGGGGGGGGACGGGGCC CTGTCCCGAGGGGTGTGAGGGGGGGACGGGGTCCTGTCCCGAGGGGTGTG AGGGGGGGACGGGGTCCTGTCCCGAGGGGTGTGAGGGGGGGACGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0143 a0001c0002t0143	a0001c0002t0143g0142 a0001c0002t0143g0142	1	257	0.0039	197	c.30 others(208): Show c.3082_*3083insGCCCCGTCCCCCCCTCACACCCCTCGGGACAGGA CCCCGTCCCCCCCTCACACCCCTCGGGACAGGACCCCGTCCCCCCCTCAC ACCCCTCGGGACAGGGCCCCGTCCCCCCCCACACCCCTCAGGGCAGGGCC CCGTCCCCCCCTCACACCCCTCGGGGCAGGACCCCGTCCCCCCCCCACAC CCCTCGGGGCAGG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1431		chr19	TogoVar
C2CD4C_chr19_400445_414147	404030	T T	TGGGGGGG others(190): Show TGGGGGGGGGACGGGGTCCTGCCCCGAGGGGTGTGAGGGGGGGACGGGGC CCTGCCCTGAGGGGTGTGGGGGGGACGGGGCCCTGTCCCGAGGGGTGTGA GGGGGGGACGGGGTCCTGTCCCGAGGGGTGTGAGGGGGGGACGGGGTCCT GTCCCGAGGGGTGTGAGGGGGGGACGGGGCCCTGCCCCGAGGGGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0025 a0001c0002t0012g0025	1	165	0.0061	197	c.30 others(208): Show c.3065_*3066insCACACCCCTCGGGGCAGGGCCCCGTCCCCCCCTC ACACCCCTCGGGACAGGACCCCGTCCCCCCCTCACACCCCTCGGGACAGG ACCCCGTCCCCCCCTCACACCCCTCGGGACAGGGCCCCGTCCCCCCCACA CCCCTCAGGGCAGGGCCCCGTCCCCCCCTCACACCCCTCGGGGCAGGACC CCGTCCCCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1414		chr19	TogoVar
C2CD4C_chr19_400445_414147	410786	C C	CCTGCTGG others(190): Show CCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCG AGCCGGGAGGAGGGTCCTGGGGATCTGTCCACCGCCCCTGCTGGGCACGG ATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTTGGGGTCT GTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01099.hp2 HG00280.hp1 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0001 a0001c0001t0013g0032 a0001c0001t0001g0001 a0001c0001t0013g0032	2	267	0.0075	197	c.-18 others(208): Show c.-1822_-1821insAGACGGTGGACAGACCCCCAGGATCCGTGCCCAG CAGGGGCGGTGGACAGACCCCAAGGATCCGTGCCCAGCAGGGGCGGTGGA CAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGATCCCCAGGA CCCTCCTCCCGGCTCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGAT CCGTGCCCAGCAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1640		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(190): Show TTTCTTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCT TTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTCTCTCT CTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0020 a0020	a0020c0021 a0020c0021	a0020c0021t0001 a0020c0021t0001	a0020c0021t0001g0046 a0020c0021t0001g0046	1	90	0.0111	197	c.573 others(216): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAGAA AGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGGAAAGAAAAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(190): Show TTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTT CTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTCTCT CTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02572.hp1 HG03834.hp1 others(1): Show HG02109.hp2 HG02572.hp1 HG03834.hp1 HG04204.hp2	a0001 a0004 a0037 a0001 a0004 a0037	a0001c0031 a0001c0125 a0004c0007 others(1): Show a0001c0031 a0001c0125 a0004c0007 a0037c0068	a0001c0031t0003 a0001c0125t0003 a0004c0007t0001 others(1): Show a0001c0031t0003 a0001c0125t0003 a0004c0007t0001 a0037c0068t0001	a0001c0031t0003g0215 a0001c0125t0003g0213 a0004c0007t0001g0050 others(1): Show a0001c0031t0003g0215 a0001c0125t0003g0213 a0004c0007t0001g0050 a0037c0068t0001g0171	4	93	0.0430	197	c.573 others(216): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAGAGAGAGAGAGA GAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAGAAAG AAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAAGAAAAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(190): Show TTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTCTTT CTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTCTCTCTCT CTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0050 a0002c0050	a0002c0050t0002 a0002c0050t0002	a0002c0050t0002g0088 a0002c0050t0002g0088	1	90	0.0111	197	c.573 others(216): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAG AAAGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAAGAAAAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar

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