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
ARHGAP39_chr8_144524179_144690846	144687687	A A	ACCCCGTG others(205): Show ACCCCGTGACCACACACTGGCGGTGAGCGCTTCCCACCCCGTGACCACAC ACTGGCGGTGAGCGCTTCCCACCCCGTGACCACACACTGGCGGTGAGCGC TTCCCACCCCGTGACCACACACTGGCGGTGAGCGCTTCCCACCCCGTGAC CACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGT GAGCACTTCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0079 a0001c0001t0020g0079	1	246	0.0041	212	c.-20 others(223): Show c.-2084_-2083insGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGG GGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGCGCTC ACCGCCAGTGTGTGGTCACGGGGTGGGAAGCGCTCACCGCCAGTGTGTGG TCACGGGGTGGGAAGCGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAG CGCTCACCGCCAGTGTGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1842		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687705	A A	AGCGGTGA others(205): Show AGCGGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAGCACTTC CCACCCCTGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCA CACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCAGTGA GCACTTCCCACCCCGTGACCACACATTTACAGTGAACACTTCCCACCCCG TGACCACACACTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0026 a0001c0001t0001g0027	2	246	0.0081	212	c.-21 others(223): Show c.-2102_-2101insCAGTGTGTGGTCACGGGGTGGGAAGTGTTCACTG TAAATGTGTGGTCACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCAC GGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGC TCACCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTCACTGTAAATGTG TGGTCACGGGGTGGGAAGTGCTCACCGC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1860		chr8	TogoVar
ARHGEF18_chr19_7343937_7477478	7367882	A A	ACACATAT others(205): Show ACACATATATATACACATATATATATTTTATATATATATACACATATATA TTTTATATATATATACACATATATATATTTTATATATATATACACATATA TATATTTTATATATATATACACATATATATATTTTATATATATATACACA TATATATATTTTATATATATATACACATATATATATTTTATATATATATA CACATATATATTT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0148 a0003c0003t0001g0148	1	298	0.0034	212	c.16- others(227): Show c.16-4930_16-4929insCACATATATATACACATATATATATTTTAT ATATATATACACATATATATTTTATATATATATACACATATATATATTTT ATATATATATACACATATATATATTTTATATATATATACACATATATATA TTTTATATATATATACACATATATATATTTTATATATATATACACATATA TATATTTTATATATATATACACATATATATTT	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	2/28			chr19	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(205): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCC TCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTCCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCATCCCCCTCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCC TCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	264	0.0038	212	c.102 others(229): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCATCCCCCTCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTC CCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(205): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCC TCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTCCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCC TCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	264	0.0038	212	c.102 others(229): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTC CCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(205): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCC TCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTCCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCC TCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	264	0.0038	212	c.102 others(229): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTC CCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(205): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCC TCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTCCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCC TCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01071.hp2 NA18943.hp1 others(4): Show HG00423.hp1 HG01071.hp2 NA18943.hp1 NA18957.hp1 NA18966.hp2 NA19007.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0084 others(4): Show a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116	7	264	0.0265	212	c.102 others(229): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTC CCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(205): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCC TCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTCCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCGTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCC TCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0099 a0003c0003t0001g0099	1	264	0.0038	212	c.102 others(229): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCGTCCCCCTCCCCCTCCCCCCTCCCCCTC CCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL15_chr5_53878942_54315573	54094554	A A	AATAAAAT others(205): Show AATAAAATAAAGCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCG GCTAATTTTTTGT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp2 HG01167.hp1 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0007 a0001c0002t0001 a0001c0002t0007	a0001c0002t0001g0004 a0001c0002t0007g0028 a0001c0002t0001g0004 a0001c0002t0007g0028	2	206	0.0097	212	c.462 others(231): Show c.462+18647_462+18648insACAAAAAATTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAATGCTTTATTTTAT	ARL15	ENSG00000185305.12	transcript	ENST00000504924.6	protein_coding	4/4			chr5	TogoVar
ASAP2_chr2_9201812_9410678	9406138	T T	TGTGTCAC others(205): Show TGTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAG TGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGC CTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCC TCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTAGTCTT CCTCAGGCCTTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0003 a0006c0018t0003	a0006c0018t0003g0051 a0006c0018t0003g0051	1	210	0.0048	212	c.28 others(223): Show c.2811_*2812insGTGTCACTGAGTGGACCTCTGTGACATCTAGTCT TCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATC TCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGT GACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCT GTGACATCTAGTCTTCCTCAGGCCTTCA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		461		chr2	TogoVar
ASAP2_chr2_9201812_9410678	9406172	A A	CGTCTTCC others(205): Show CGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTG TGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTC TGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACC TCTGTGACATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0009 a0002c0005t0001g0009	1	210	0.0048	212	c.28 others(223): Show c.2844_*2845insCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCAC TGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTC ACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTG TCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTG TGTCACTGAGTGGACCTCTGTGACATCT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		494		chr2	TogoVar
ATOSA_chr15_52576321_52684388	52674205	T T	TAAGACCA others(205): Show TAAGACCACATTTTACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA AGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGA CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02683.hp1 HG03225.hp1 others(1): Show HG00733.hp1 HG02683.hp1 HG03225.hp1 NA18998.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0012 a0004c0005t0001 a0004c0005t0012	a0004c0005t0001g0197 a0004c0005t0001g0245 a0004c0005t0001g0246 others(1): Show a0004c0005t0001g0197 a0004c0005t0001g0245 a0004c0005t0001g0246 a0004c0005t0012g0342	4	362	0.0111	212	c.16+ others(227): Show c.16+3800_16+3801insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCA GTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCG CGCCCGGCTAATTTTTTGTAAAATGTGGTCTT	ATOSA	ENSG00000047346.13	transcript	ENST00000619572.5	protein_coding	2/12			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25757917	A A	ACTCATTC others(205): Show ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCT CCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAT CACCTGCTCCACC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0129 a0006c0007t0001g0129	1	300	0.0033	212	c.655 others(231): Show c.655-21777_655-21776insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGG AATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGGTC GGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758113	A A	ACTCATTC others(205): Show ACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGATCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAT CACCTGCTCCACC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0255 a0003c0003t0001g0255	1	300	0.0033	212	c.655 others(231): Show c.655-21973_655-21972insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAA TGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGT GGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758281	A A	ACTCATTC others(205): Show ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACC TGCTCCACCCTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0286 a0005c0005t0002g0286	1	300	0.0033	212	c.655 others(231): Show c.655-22141_655-22140insGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGATCGGAATGAGGGTGGAGCAGGTGATCGGAATG AGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTC GGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758421	A A	ACTCATTC others(205): Show ACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTG CTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGAT CACCTGCTCCACC	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0009 a0009	a0009c0056 a0009c0056	a0009c0056t0001 a0009c0056t0001	a0009c0056t0001g0105 a0009c0056t0001g0105	1	300	0.0033	212	c.655 others(231): Show c.655-22281_655-22280insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGT GGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758544	C C	CCACCTGC others(205): Show CCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCC GATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATT CCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAA CTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCT AACTCATTCCGAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0001 a0008c0006t0001	a0008c0006t0001g0242 a0008c0006t0001g0242	1	300	0.0033	212	c.655 others(231): Show c.655-22404_655-22403insATCGGAATGAGTTAGGGTGGAGCAGG TGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCA GGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAG CAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGG GTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATXN7L1_chr7_105599772_105881599	105733678	C C	CCATCCAT others(205): Show CCATCCATCCATCCACCCATCCACCCATCCATCCATTCATCCATCCACCC ATCCATCCATCCACCCATCCATCCACCCAACCACCCATCCATCCACCCCT CCATCCGTCCATCCATCCACCCATCCATCCATCCACCCATCCACCCATTC ATCCATCCACCCATCCATCCATCCATCCATCCATCCATTCATCCATCCAC CCATCCATCCATT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03130.hp2 HG03139.hp1 HG02965.hp1 HG03130.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0027 a0001c0001t0044 a0001c0001t0008 a0001c0001t0027 a0001c0001t0044	a0001c0001t0008g0075 a0001c0001t0027g0134 a0001c0001t0044g0110 a0001c0001t0008g0075 a0001c0001t0027g0134 a0001c0001t0044g0110	3	252	0.0119	212	c.355 others(231): Show c.355+54925_355+54926insAATGGATGGATGGGTGGATGGATGAA TGGATGGATGGATGGATGGATGGATGGGTGGATGGATGAATGGGTGGATG GGTGGATGGATGGATGGGTGGATGGATGGACGGATGGAGGGGTGGATGGA TGGGTGGTTGGGTGGATGGATGGGTGGATGGATGGATGGGTGGATGGATG AATGGATGGATGGGTGGATGGGTGGATGGATGGATG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105733681	C C	CCCATCCA others(205): Show CCCATCCATCCATCCACCCATCCACCCATCCATCCATTCATCCATCCACC CATCCATCCATCCACCCATCCATCCACCCAACCACCCATCCATCCACCCC TCCATCCGTCCATCCATCCACCCATCCATCCATCCACCCATCCACCCATT CATCCATCCACCCATCCATCCATCCATCCATCCATTCATCCATCCACCCA TCCATCCATTCAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02818.hp2 HG02896.hp1 others(2): Show HG02451.hp1 HG02818.hp2 HG02896.hp1 HG03540.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0002c0002t0032	a0001c0001t0001g0145 a0001c0001t0004g0023 a0001c0001t0006g0117 others(2): Show a0001c0001t0001g0145 a0001c0001t0004g0023 a0001c0001t0006g0117 a0001c0001t0010g0228 a0002c0002t0032g0149	5	252	0.0198	212	c.355 others(231): Show c.355+54922_355+54923insATGAATGGATGGATGGGTGGATGGAT GAATGGATGGATGGATGGATGGATGGGTGGATGGATGAATGGGTGGATGG GTGGATGGATGGATGGGTGGATGGATGGACGGATGGAGGGGTGGATGGAT GGGTGGTTGGGTGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGA ATGGATGGATGGGTGGATGGGTGGATGGATGGATGG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105733772	G G	GTCCACCC others(205): Show GTCCACCCATCCATCCACCCATCCATCCATTCATCCATCCACCCATCCAT CCATTCATCCATCCACCCATCCATCCATCCTTCCATCCATCCACCCAACC ACCCATCCTTCCATCCATCCACCCAACCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCTATGCTTCCATCCATCCACCCATCC ATCCATTCATCCA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0192 a0001c0001t0060g0192	1	252	0.0040	212	c.355 others(231): Show c.355+54831_355+54832insTGGATGAATGGATGGATGGGTGGATG GATGGAAGCATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGGTGGTTGGGTGGATGGATGGAAGGATGGGTGGTTGGGTGGATG GATGGAAGGATGGATGGATGGGTGGATGGATGAATGGATGGATGGGTGGA TGGATGAATGGATGGATGGGTGGATGGATGGGTGGA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105825614	A A	AAGCATGT others(205): Show AAGCATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0133 a0001c0001t0052g0133	1	252	0.0040	212	c.251 others(231): Show c.251-36907_251-36906insAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAACATGCT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105825614	A A	AAGCATGT others(205): Show AAGCATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01496.hp1 HG01256.hp2 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0235 a0001c0001t0013g0242 a0001c0001t0003g0235 a0001c0001t0013g0242	2	252	0.0079	212	c.251 others(231): Show c.251-36907_251-36906insAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAACATGCT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11			chr7	TogoVar
B4GALNT3_chr12_454939_568509	512690	T T	TCCACCTT others(205): Show TCCACCTTCCACCTTCCACCTTCTTCCACCTTTGACCTTCCACCTTCCAC CTTCCGCCTTCCGCCTTCTGCCTTCCTTCCACCTTCCGCCTTCCACCTTC TTCCACCTTCCACCTTCCGCCTTCTGCCTTCCACCTTCCGCCTTCCACCT TCCGCCTTCCACCTTCCACCTTCCGCCTTCCACCTTCCACCTTCCACCTT CTTCCACCTTCCA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0080 a0003c0004t0080	a0003c0004t0080g0201 a0003c0004t0080g0201	1	394	0.0025	212	c.170 others(231): Show c.170-22474_170-22473insACCTTCCACCTTCCACCTTCTTCCAC CTTTGACCTTCCACCTTCCACCTTCCGCCTTCCGCCTTCTGCCTTCCTTC CACCTTCCGCCTTCCACCTTCTTCCACCTTCCACCTTCCGCCTTCTGCCT TCCACCTTCCGCCTTCCACCTTCCGCCTTCCACCTTCCACCTTCCGCCTT CCACCTTCCACCTTCCACCTTCTTCCACCTTCCACC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(205): Show GGGAGGGAGAGGGGGGGAGGGGGGGAGGGGGAGGGAGGGAGAGGGGGGGA GGGGGGAGGGGGAGGGGGGAGGGAGGGGGGGATGGGGATGGGGGAGGGGA GGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGAGGGGGGAGGGGA GGGGGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGTG GATGGACTGGGGA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0235 a0001c0003t0011g0235	1	298	0.0034	212	c.51+ others(225): Show c.51+438_51+439insTCCCCAGTCCATCCACCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCCCCTCCCCCCTCTCCCC CCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCTCCCCCATCCCCAT CCCCCCCTCCCTCCCCCCTCCCCCTCCCCCCTCCCCCCCTCTCCCTCCCT CCCCCTCCCCCCCTCCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAZ2B_chr2_159313979_159621548	159501205	T T	TTATATAT others(205): Show TTATATATATTATATATATATTTATATATATATATAATATATATATTTTT ATATATATATATTATATATATATTTATATATATATATTATATATATATTT ATATATATATATATATTATATATATTTATATATATATATATTATATATAT ATTTATATATATATATATTATATATATATTTATATATATATATATTATAT ATATATTTATATA	intron_variant intron_variant	MODIFIER	HG01515.hp1 NA18999.hp1 HG01515.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0078 a0001c0001t0001g0041 a0001c0001t0001g0078	2	216	0.0093	212	c.-2- others(229): Show c.-2-22485_-2-22484insTATATAAATATATATATAATATATATAT ATATAAATATATATATAATATATATATATATAAATATATATATAATATAT ATATATATAAATATATATAATATATATATATATATAAATATATATATAAT ATATATATATAAATATATATATAATATATATATATAAAAATATATATATT ATATATATATATAAATATATATATAATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BDKRB2_chr14_96199839_96249164	96243022	A A	ACCTGGAG others(205): Show ACCTGGAGAGGCTAGAACCAAGAAGGGCTAGAACCTGGAGGGGCTAGAAC CTAGAGAAGCTAAAACCTGAGCTAGAAGCTGGAGGACTAGAACCTGGAGG GCTGGAATCTGGAGAGCTAGAACCTGGAGGGCTAGAACCTGGAGGGCTAG AATCTGGAGAGCTAGAACCTGGAGAGCTAGAACCTGGAGAACTAGAACCT GGAGGGCTAGAAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03490.hp1 HG04184.hp1 HG03490.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0357 a0001c0001t0026g0377 a0001c0001t0026g0357 a0001c0001t0026g0377	2	436	0.0046	212	c.15 others(223): Show c.1519_*1520insCTGGAGAGGCTAGAACCAAGAAGGGCTAGAACCT GGAGGGGCTAGAACCTAGAGAAGCTAAAACCTGAGCTAGAAGCTGGAGGA CTAGAACCTGGAGGGCTGGAATCTGGAGAGCTAGAACCTGGAGGGCTAGA ACCTGGAGGGCTAGAATCTGGAGAGCTAGAACCTGGAGAGCTAGAACCTG GAGAACTAGAACCTGGAGGGCTAGAACC	BDKRB2	ENSG00000168398.7	transcript	ENST00000554311.2	protein_coding	3/3	1520	INFO_REALIGN_3_PRIME	chr14	TogoVar
BOC_chr3_113206557_113292459	113236266	G G	GTATATAT others(205): Show GTATATATACCCATGGGTATATATATATATATATATATATATACCCATGG GTATATATATATATATATATATATATATACCCATGGGTATATATATATAT ATATATATATATATACCCATGGGTATATATATATATATATATATATATAT ACCCATGGGTATATATATATATATATATATATATATACCCATGGGTATAT ATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0325 a0001c0002t0001g0325	1	386	0.0026	212	c.-81 others(231): Show c.-81-13414_-81-13413insCCCATGGGTATATATATATATATATA TATATATATACCCATGGGTATATATATATATATATATATATATATACCCA TGGGTATATATATATATATATATATATATATACCCATGGGTATATATATA TATATATATATATATATACCCATGGGTATATATATATATATATATATATA TACCCATGGGTATATATATATATATATATATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236288	A A	ATATATAT others(205): Show ATATATATATATATATATATATACCCATGGGTATATATATATATATATAT ATATATATACCCATGGGTATATATATATATATATATATATATATACCCAT GGGTATATATATATATATATATATATACCCATGGGTATATATATATATAT ATATATATATATATATACCCATGGGTATATATATATATATATATATATAT ATATACCCATGGG	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0216 a0001c0003t0012g0216	1	386	0.0026	212	c.-81 others(231): Show c.-81-13412_-81-13411insCCCATGGGTATATATATATATATATA TATATATATACCCATGGGTATATATATATATATATATATATATATACCCA TGGGTATATATATATATATATATATATACCCATGGGTATATATATATATA TATATATATATATATATACCCATGGGTATATATATATATATATATATATA TATATACCCATGGGTATATATATATATATATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BRF1_chr14_105204286_105306001	105276296	C C	CGGCCCTC others(205): Show CGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAG AGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCC GAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGA GCCGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAA GGAGCCGAGAGGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	72	0.0139	212	c.266 others(229): Show c.266-3403_266-3402insCCCTCTCGGCTCCTTCTCACTGTGGCCT CCTCCCCAGCTCTCTAGTGAGGGCCCCCTCTCGGCTCCTTCTCACTGTGG CCTCCTCCCCAGCTCTCTAGTGAGGGCCCCCTCTCGGCTCCTTCTCACTG TGGCCTCCTCCCCAGCTCTCTAGTGAGGGCCCCCTCTCGGCTCCTTCTCA CTGTGGCCTCCTCCCCAGCTCTCTAGTGAGGGCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105276342	C C	CGAGAGGG others(205): Show CGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGG AGCCGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGA AGGAGCCGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTG AGAAGGAGCCGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACA GTGAGAAGGAGCT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	72	0.0139	212	c.266 others(229): Show c.266-3449_266-3448insAGCTCCTTCTCACTGTGGCCTCCTCCCC AGCTCTCTAGTGAGGGCCGCCTCTCGGCTCCTTCTCACTGTGGCCTCCTC CCCAGCTCTCTAGTGAGGGCCGCCTCTCGGCTCCTTCTCACTGTGGCCTC CTCCCCAGCTCTCTAGTGAGGGCCGCCTCTCGGCTCCTTCTCACTGTGGC CTCCTCCCCAGCTCTCTAGTGAGGGCCCCCTCTC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105277197	G G	GGGCCCTC others(205): Show GGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAG AGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCC GAGAGGGGGCCCTCACTAGGGAGCTGGGGAGGAGGCCACAGTGAGAAGGA GCCGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAA GGAGCCGAGAGGC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	72	0.0139	212	c.266 others(229): Show c.266-4304_266-4303insGCCTCTCGGCTCCTTCTCACTGTGGCCT CCTCCCCAGCTCTCTAGTGAGGGCCGCCTCTCGGCTCCTTCTCACTGTGG CCTCCTCCCCAGCTCCCTAGTGAGGGCCCCCTCTCGGCTCCTTCTCACTG TGGCCTCCTCCCCAGCTCTCTAGTGAGGGCCGCCTCTCGGCTCCTTCTCA CTGTGGCCTCCTCCCCAGCTCTCTAGTGAGGGCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105277455	T T	TGAGAGGC others(205): Show TGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGG AGCCGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGA AGGAGCCGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTG AGAAGGAGCCGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACA GTGAGAAGGAGCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	72	0.0139	212	c.266 others(229): Show c.266-4562_266-4561insGGCTCCTTCTCACTGTGGCCTCCTCCCC AGCTCTCTAGTGAGGGCCCCCTCTCGGCTCCTTCTCACTGTGGCCTCCTC CCCAGCTCTCTAGTGAGGGCCGCCTCTCGGCTCCTTCTCACTGTGGCCTC CTCCCCAGCTCTCTAGTGAGGGCCCCCTCTCGGCTCCTTCTCACTGTGGC CTCCTCCCCAGCTCTCTAGTGAGGGCCGCCTCTC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
C10orf67_chr10_23197696_23349797	23331507	G G	GAAGGGAA others(205): Show GAAGGGAAGGGAAAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAGGG AAAAGGGAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAAAGGGAAGG GAAGGGAAGGGAAAAGGGAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGG AAGGGAAAAGGGAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAAACG GAAGGGAAGGGAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	326	0.0031	212	c.327 others(229): Show c.327+1554_327+1555insTTCCCTTCCCTTCCGTTTTCCCTTCCCT TCCCTTTTCCCTTCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTCCCTT TTCCCTTCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTCCCTTTTCCCT TCCCTTCCCTTTTCCCTTCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTT CCCTTTTCCCTTCCCTTCCCTTTTCCCTTCCCTT	C10orf67	ENSG00000179133.15	transcript	ENST00000636213.3	protein_coding	2/15			chr10	TogoVar
C2orf80_chr2_208160347_208195030	208176973	A A	ATCTGTAT others(205): Show ATCTGTATACAGATGTATACATATCTGTATACAGATGTATACATATCTGT ATACAGATGTATACATATCTGTATACAGATGTATACATATCTGTATACAG ATGTATACATATCTGTATACAGATGTATACATATCTGTATACAGATGTAT ACATATCTGTATACAGATGTATACATATCTGTATACAGATGTATACATAT CTGTATACAGATG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02970.hp2 HG01891.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0023 a0001c0001t0002g0024	2	342	0.0059	212	c.366 others(229): Show c.366+3771_366+3772insCATCTGTATACAGATATGTATACATCTG TATACAGATATGTATACATCTGTATACAGATATGTATACATCTGTATACA GATATGTATACATCTGTATACAGATATGTATACATCTGTATACAGATATG TATACATCTGTATACAGATATGTATACATCTGTATACAGATATGTATACA TCTGTATACAGATATGTATACATCTGTATACAGA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
CACNA1H_chr16_1148106_1226768	1186101	A A	ACGGCGTA others(205): Show ACGGCGTAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGG TCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGA GTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0050 a0002c0012t0002g0050	1	338	0.0030	212	c.300 others(229): Show c.300-8865_300-8864insAGGGGCCGGAGGCGGGGTGTGTATGGGG CGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGT GTATGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGG GTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA2D2_chr3_50357613_50508634	50480935	G G	GAAGGGGG others(205): Show GAAGGGGGAGGAAGGGGGAGGAAGTGGGAGGAAGGGGGAGGAAATGGGAG GAAGGGGGGGAAGCGGGAGGAAGGGGGAGGAAGGGGGGGAAGCGGGAGGA AGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGGGGGAAGGGGGAGGAAG GGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGAAGGAAGGGGGAGGAAGGG GGTAAGGGGGGGT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0046 a0001c0001t0004g0046	1	234	0.0043	212	c.207 others(229): Show c.207-4737_207-4736insACCCCCCCTTACCCCCTTCCTCCCCCTT CCTTCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCCCTTCC CCCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCGCTTCCCC CCCTTCCTCCCCCTTCCTCCCGCTTCCCCCCCTTCCTCCCATTTCCTCCC CCTTCCTCCCACTTCCTCCCCCTTCCTCCCCCTT	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	1/37			chr3	TogoVar
CACNA2D2_chr3_50357613_50508634	50480935	G G	GAAGTGGG others(205): Show GAAGTGGGAGGAAGGGGGAGGAAATGGGAGGAAGGGGGGGAAGCGGGAGG AAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGGAGGAAGGGGGGAAGC GGGAGGAAGGGGGGGGAAGTGGGAGGAAGTGGGAGGAAGGGGGAGGAAGG GGGAGGAAGGGGGGAAGCGGGAGGAAGGGGAAGGAAGGGGGAGGAAGGGG GTAAGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	234	0.0043	212	c.207 others(229): Show c.207-4737_207-4736insACCCCCCCCTTACCCCCTTCCTCCCCCT TCCTTCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCCCTTC CTCCCACTTCCTCCCACTTCCCCCCCCTTCCTCCCGCTTCCCCCCTTCCT CCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCGCTTCCCCC CCTTCCTCCCATTTCCTCCCCCTTCCTCCCACTT	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	1/37			chr3	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(205): Show CACACACATATATGTATGTGTATATACACACACATATATGTATGTGTATA TACACACACATATATGTATGTGTATATACACACACATATATGTATGTGTA TATACACACACATATATGTATGTGTATATACACACACATATATGTATGTG TATATATACACACATATATGTATGTGTATATATACACACACATATACACA CACGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18747.hp1 HG03540.hp2 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0008 a0002c0002t0001 a0002c0002t0008	a0002c0002t0001g0215 a0002c0002t0008g0160 a0002c0002t0001g0215 a0002c0002t0008g0160	2	262	0.0076	212	c.218 others(227): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTATGTGTATATACACACACATATATGTATGTGTATATACAC ACACATATATGTATGTGTATATACACACACATATATGTATGTGTATATAC ACACACATATATGTATGTGTATATATACACACATATATGTATGTGTATAT ATACACACACATATACACACACGTGTGTGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(205): Show CACACACATATATGTATGTGTATATACACACACATATATGTGTGTGTATA TACACACACATATATGTATGTGTATATACACACACATATATGTATGTGTA TATACACACACATATATGTATGTGTATATACACACACATATATGTATGTG TATATATACACACATATATGTATGTGTATATATACACACACATATACACA CACGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA20752.hp1 HG03017.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0210 a0002c0002t0001g0041 a0002c0002t0001g0210	2	262	0.0076	212	c.218 others(227): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTGTGTGTATATACACACACATATATGTATGTGTATATACAC ACACATATATGTATGTGTATATACACACACATATATGTATGTGTATATAC ACACACATATATGTATGTGTATATATACACACATATATGTATGTGTATAT ATACACACACATATACACACACGTGTGTGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(205): Show CACACACATATATGTATGTGTATATACACACACATATATGTGTGTGTATA TACACACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTA TATACACACACATATATGTGTGTGTATATACACACACATATATGTGTGTG TATATACACACACATATATGTGTGTGTATATATACACACACATATACACA CACGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0112 a0002c0002t0004g0112	1	262	0.0038	212	c.218 others(227): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATATACAC ACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATATAC ACACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATAT ATACACACACATATACACACACGTGTGTGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CAMSAP2_chr1_200733893_200865704	200816810	A A	ATATGTGT others(205): Show ATATGTGTGTACACACACACGCGTGTATATATGTGTGTACACACACACGC GTGTATATATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACAC ACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACAC ACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACAC ACACACGCGTGTG	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	366	0.0027	212	c.645 others(229): Show c.645+1191_645+1192insATATATGTGTGTACACACACACGCGTGT ATATATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGC GTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACAC GCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACAC ACGCGTGTGTATGTGTGTACACACACACGCGTGT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816899	C C	CACACACG others(205): Show CACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACA CACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACA CACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACA CGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTACACACACGCG CGTGTATGTGTGT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0010 a0010	a0010c0008 a0010c0008	a0010c0008t0026 a0010c0008t0026	a0010c0008t0026g0081 a0010c0008t0026g0081	1	366	0.0027	212	c.645 others(229): Show c.645+1261_645+1262insGCGCGTGTATGTGTGTACACACACGCGC GTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGT GTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGT ATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTAT GTGTACACACACGCGCGTGTATGTGTGTACACAC	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(205): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGAAGAAG GAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0256 a0002c0003t0003g0256	1	364	0.0028	212	c.234 others(229): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCT CTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCC CCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(205): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGG GGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAG AGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0308 a0002c0004t0002g0308	1	364	0.0028	212	c.234 others(229): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCT TCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(205): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAG AGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0354 a0002c0003t0001g0354	1	364	0.0028	212	c.234 others(229): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCT TCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCTCCTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(205): Show AAGAAGAAGAAGAGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGA AGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01517.hp2 HG00639.hp1 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0049 a0001c0002t0003g0191 a0001c0002t0003g0049 a0001c0002t0003g0191	2	364	0.0055	212	c.234 others(229): Show c.234+6849_234+6850insCCTTCTCCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCT CCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC TTCTTCTTCTTCTTCTTCCTCCTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGGGGAA others(205): Show AAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGG AGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGG AGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAG GAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	364	0.0028	212	c.234 others(229): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCCCTCCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCT TCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761473	A A	AGGAGGAA others(205): Show AGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGA AGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGAAG GAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG04184.hp2 HG01074.hp1 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0006t0003 a0001c0002t0001 a0001c0006t0003	a0001c0002t0001g0167 a0001c0006t0003g0184 a0001c0002t0001g0167 a0001c0006t0003g0184	2	364	0.0055	212	c.234 others(229): Show c.234+6834_234+6835insCCTTCTCCTTCTCCTTCTCCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCT TCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761497	G G	GGGAAGGG others(205): Show GGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGA GGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAG GGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG AAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0169 a0001c0006t0003g0169	1	364	0.0028	212	c.234 others(229): Show c.234+6810_234+6811insTCTTCTTCTTCTTCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCC CTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761497	G G	GGGAAGGG others(205): Show GGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGA GGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAG GGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAG AAGAAGAAGGAGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0214 a0001c0002t0003g0214	1	364	0.0028	212	c.234 others(229): Show c.234+6810_234+6811insTCTCCTTCTTCTTCTTCTTCTTCTCCTT CTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCC CTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar

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