Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

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No_samplehapid

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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
ARFIP1_chr4_152774954_152917357	152804183	A A	ATTATATA others(167): Show ATTATATATAATATAAGATGTATTATATATTATATATAATATAAGATGTA TTATATATTATATATAATATAAGATGTATTATATATTATATATAATATAA CATGTATTATATATAATATATAATATAACATGTATTACATATTATATATA TAACATAACATGTATTATATATATT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0162 a0001c0001t0003g0162	1	342	0.0029	174	c.-10 others(193): Show c.-10+23972_-10+23973insGATGTATTATATATTATATATAATAT AAGATGTATTATATATTATATATAATATAAGATGTATTATATATTATATA TAATATAACATGTATTATATATAATATATAATATAACATGTATTACATAT TATATATATAACATAACATGTATTATATATATTTTATATATAATATAA	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARFIP1_chr4_152774954_152917357	152804194	T T	TATAAGAT others(167): Show TATAAGATGTATTATATATTATATATAATATAAGATGTATTATATATTAT ATATAATATAAGATGTATTATATATTATATATAATATAATATGTATTATA TATAATATATAATATAACATGTATTACATATTATATATATAACATAACAT GTATTATATATATTTTATATATAAC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0147 a0001c0001t0003g0147	1	342	0.0029	174	c.-10 others(193): Show c.-10+23972_-10+23973insGATGTATTATATATTATATATAATAT AAGATGTATTATATATTATATATAATATAAGATGTATTATATATTATATA TAATATAATATGTATTATATATAATATATAATATAACATGTATTACATAT TATATATATAACATAACATGTATTATATATATTTTATATATAACATAA	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARFRP1_chr20_63693647_63712976	63693732	T T	TCCACCTC others(167): Show TCCACCTCCACCACCACCTCCACCACCTCCACCACCACCACCACCACCTC CACCTCCACCTCCACCTCCACCTCCACCACCTCCACCTCCACCACCTCCA CCACCTCCACCACCACCTCCACCACCTCCACCACCACCTCCACCACCACC TCCACCACCACCTCCTCCACCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	296	0.0034	174	c.67 others(185): Show c.6710_*6711insTGGAGGTGGAGGAGGTGGTGGTGGAGGTGGTGGT GGAGGTGGTGGTGGAGGTGGTGGAGGTGGTGGTGGAGGTGGTGGAGGTGG TGGAGGTGGAGGTGGTGGAGGTGGAGGTGGAGGTGGAGGTGGAGGTGGTG GTGGTGGTGGTGGAGGTGGTGGAGGTGGTGGTGGAGGTGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4914		chr20	TogoVar
ARHGAP39_chr8_144524179_144690846	144687013	C C	CCCCGTGA others(167): Show CCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCA CTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACT TCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACC ACACACTGGCGGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0142 a0002c0008t0001g0142	1	246	0.0041	174	c.-14 others(185): Show c.-1410_-1409insTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG GTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGC CGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTC ACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1168		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687192	C C	CCCCGTGA others(167): Show CCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACGCA CTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACT TCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACC ACACACTGGCGGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0242 a0001c0002t0001g0242	1	246	0.0041	174	c.-15 others(185): Show c.-1589_-1588insTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG GTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGCGTGGTC ACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1347		chr8	TogoVar
ARHGAP42_chr11_100682288_100998941	100779497	C C	CACACACA others(167): Show CACACACACACATATATACACGTATATATATACGTATACATACGTATATA TACGTATATATATACGTATACATACGTATATATACGTATATATATACGTA TACATACGTATATATACGTATATATATACGTATACATACGTATATATATA CGTATATATATACGTATACATACGT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	286	0.0035	174	c.250 others(191): Show c.250+9060_250+9061insCACACACACATATATACACGTATATATA TACGTATACATACGTATATATACGTATATATATACGTATACATACGTATA TATACGTATATATATACGTATACATACGTATATATACGTATATATATACG TATACATACGTATATATATACGTATATATATACGTATACATACGTA	ARHGAP42	ENSG00000165895.19	transcript	ENST00000298815.13	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGDIG_chr16_275591_288010	285902	T T	TCCCAACC others(167): Show TCCCAACCCCAACCCCAACCCCAACCCCAACACCAACCCCGCGGTTCTCC CAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAAC CCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCA ACCCCGCGGTTCTCCCAACCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0028 a0001c0001t0015g0028	1	442	0.0023	174	c.30 others(185): Show c.3088_*3089insCCCAACCCCAACCCCAACCCCAACCCCAACACCA ACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCC CGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTC CCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAAC	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding		2893		chr16	TogoVar
ARHGEF10_chr8_1818926_1963641	1839308	G G	GAAGCTGT others(167): Show GAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGG GACAGTCCGGTGTGGGGACTGTCTGGTGTGGGGACTGTCCGGTGTGTGGA CTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACTGTCTGGTGTGGAAGCT GTCTGGTGTGGGGACTGTCTGGTGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0024 a0024	a0024c0094 a0024c0094	a0024c0094t0016 a0024c0094t0016	a0024c0094t0016g0103 a0024c0094t0016g0103	1	363	0.0028	174	c.-47 others(191): Show c.-47-4045_-47-4044insAAGCTGTCTGGTGTGGAAGCTGTCTGGT GTGGAAGCTGTCTGGTGTGGGGACAGTCCGGTGTGGGGACTGTCTGGTGT GGGGACTGTCCGGTGTGTGGACTGTCTGGTGTGGAAGCTGTCTGGTGTGG GGACTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACTGTCTGGTGT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1839807	T T	TGGTGTGG others(167): Show TGGTGTGGGGACAGTCTGGTGTGGAAGCTGTCAGGTGTGGAAGCTGTCTG GTGGGGACAGTCTGGTGTGGGGACTGTCCGGTGTGGGGACTGTCCGGTGT GGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGG AAGCTGTCTGGTGTGGGGACTGTCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0024 a0024	a0024c0094 a0024c0094	a0024c0094t0016 a0024c0094t0016	a0024c0094t0016g0103 a0024c0094t0016g0103	1	363	0.0028	174	c.-47 others(191): Show c.-47-3546_-47-3545insGGTGTGGGGACAGTCTGGTGTGGAAGCT GTCAGGTGTGGAAGCTGTCTGGTGGGGACAGTCTGGTGTGGGGACTGTCC GGTGTGGGGACTGTCCGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGG TGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACTGTCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1839993	A A	ACAGTCTG others(167): Show ACAGTCTGGTGTGGGGACTGTCTGGTGTGGGGACTGTCTGGTGTGGGGAC AGTCTGGTGTGGAAGCTGTCAGGTGTGGAAGCTGTCTGGTGGGGACAGTC CGGTGTGGGGACTGTCCGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCTG GTGTGGAAGCTGTCTGGTGTGGAAG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02717.hp1 HG02818.hp2 others(4): Show HG01255.hp1 HG02717.hp1 HG02818.hp2 HG02895.hp2 HG03139.hp1 HG03209.hp2 HG03540.hp2	a0001 a0009 a0001 a0009	a0001c0002 a0001c0003 a0001c0009 others(3): Show a0001c0002 a0001c0003 a0001c0009 a0001c0012 a0001c0100 a0009c0029	a0001c0002t0026 a0001c0003t0026 a0001c0009t0058 others(4): Show a0001c0002t0026 a0001c0003t0026 a0001c0009t0058 a0001c0012t0074 a0001c0100t0072 a0009c0029t0007 a0009c0029t0041	a0001c0002t0026g0192 a0001c0003t0026g0190 a0001c0009t0058g0200 others(4): Show a0001c0002t0026g0192 a0001c0003t0026g0190 a0001c0009t0058g0200 a0001c0012t0074g0191 a0001c0100t0072g0199 a0009c0029t0007g0202 a0009c0029t0041g0201	7	363	0.0193	174	c.-47 others(191): Show c.-47-3359_-47-3358insAGTCTGGTGTGGGGACTGTCTGGTGTGG GGACTGTCTGGTGTGGGGACAGTCTGGTGTGGAAGCTGTCAGGTGTGGAA GCTGTCTGGTGGGGACAGTCCGGTGTGGGGACTGTCCGGTGTGGGGACTG TCCGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGAAGC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARID3A_chr19_921035_980939	950061	T T	TGAACGGA others(167): Show TGAACGGATGGATGAGGCCGTCCCCAGAGTGAACGGATGGATGAGGCCGT CCCCAGAGTGAACGGATGGATGAGGCCGTCCCCAGAGTGAACGGATGGAT GAGGCCGTGCCCAGAGTGAACGGATGGATGAGGCCGTCCCCAGAGTGAAC GGATGGATGAGGCCGTCCCCAGAGG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0123 a0001c0001t0123	a0001c0001t0123g0324 a0001c0001t0123g0324	1	364	0.0028	174	c.694 others(191): Show c.694-9924_694-9923insGCCCAGAGTGAACGGATGGATGAGGCCG TCCCCAGAGTGAACGGATGGATGAGGCCGTCCCCAGAGGGAACGGATGGA TGAGGCCGTCCCCAGAGTGAACGGATGGATGAGGCCGTCCCCAGAGTGAA CGGATGGATGAGGCCGTCCCCAGAGTGAACGGATGGATGAGGCCGT	ARID3A	ENSG00000116017.11	transcript	ENST00000263620.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCACCC others(167): Show CTCCACCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCCC CCCTCCCCCTCCCCTCCCCCTCCCCATCCCCCCTCCCCCTCCCCCTCTCC CCCTCCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0133 a0002c0002t0001g0133	1	264	0.0038	174	c.102 others(191): Show c.1024+318_1024+319insTCCACCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTC CCCCCTCCCCCTCCCCATCCCCCCTCCCCCTCCCCTCCCCCTCCCCATCC CCCCTCCCCCTCCCCCTCTCCCCCTCCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(167): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATC CCCCCTCCCCCTCCCCTCCCCCTCCCCATCCCCCTCCCCCTCCCCCTCTC CCCCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0125 a0002c0002t0001g0125	1	264	0.0038	174	c.102 others(191): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCCCTCCCCCTCCCCC TCCCCCCTCCCCCTCCCCATCCCCCCTCCCCCTCCCCTCCCCCTCCCCAT CCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(167): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCCC CCCTCCCCCTCCCCTCCCCCTCCCCATCCCCCCTCCCCCTCCCCCTCTCC CCCTCCCCCTCTCCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0025 a0002c0002t0001g0025	1	264	0.0038	174	c.102 others(191): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTC CCCCCTCCCCCTCCCCATCCCCCCTCCCCCTCCCCTCCCCCTCCCCATCC CCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ASGR2_chr17_7096326_7119822	7112076	G G	GGAGGGGA others(167): Show GGAGGGGAGGGGGAGAGGGGAGGGGGGAGAGGGATGGAGGGGGAGGGGCA GGGGAGGGGGAGGAGGGAGAGGGAGGGAGGGGGAGGGGGAGGGAGAGGAG GAAGGGAGAGGGGGAGGGGGAGGGAGAGGGAAGGGGAGTGCGAGGGGAGG GGGAGGGGAGAGGGAGGGGGAGGGA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	432	0.0023	174	c.124 others(191): Show c.124+2040_124+2041insTCCCTCCCCCTCCCTCTCCCCTCCCCCT CCCCTCGCACTCCCCTTCCCTCTCCCTCCCCCTCCCCCTCTCCCTTCCTC CTCTCCCTCCCCCTCCCCCTCCCTCCCTCTCCCTCCTCCCCCTCCCCTGC CCCTCCCCCTCCATCCCTCTCCCCCCTCCCCTCTCCCCCTCCCCTC	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	2/8			chr17	TogoVar
ATOH8_chr2_85748991_85796383	85767580	T T	TCCTTCCC others(167): Show TCCTTCCCTCCCCTGCCCTCCCCCTCACTTCCTCCCTCCCTCCCCACTCC CCTCCCCTCTCCTTCCCCTCCCCTGCCCTCCCCCTCACTTCCTCCCTCCC TCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	378	0.0027	174	c.960 others(191): Show c.960+3406_960+3407insCCCCTGCCCTCCCCCTCACTTCCTCCCT CCCTCCCCACTCCCCTCCCCTCTCCTTCCCCTCCCCTGCCCTCCCCCTCA CTTCCTCCCTCCCTCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCC CTCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCT	ATOH8	ENSG00000168874.13	transcript	ENST00000306279.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP11A_chr13_112685038_112892168	112804357	C C	CCCTCCTT others(167): Show CCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCGT TCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTC CTTCCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCC TCTCTGCCCTCCTTCCCCTCCTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0114 a0001c0006t0004g0114	1	254	0.0039	174	c.163 others(189): Show c.163-553_163-552insGTTCCCCTCCTTCCCTCCTTCACCTCCCTC CCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCCCTCCT TCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCT CCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP6V0A4_chr7_138701294_138803196	138789840	A A	ATGCCTGT others(167): Show ATGCCTGTGATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGA ACCTGGGAAGCGGAGGTTGAGGTGAGCTGAGATCGTGCCACTGCACTCCA GCTTGGGCAACAAGAGTGAAACTCCATCTCAAACAATAACAACAACAACA AAAATTAGCAGGGCATAATGGCAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00639.hp2 others(66): Show HG00099.hp1 HG00323.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00741.hp1 HG01074.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01257.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03710.hp1 HG04115.hp1 NA18747.hp1 NA18906.hp1 NA18942.hp2 NA18952.hp1 NA18966.hp1 NA18969.hp2 NA18971.hp2 NA18985.hp1 NA18985.hp2 NA19065.hp1 NA19082.hp2 NA19240.hp1 NA19240.hp2 NA20805.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0015	a0001c0001 a0001c0005 a0001c0007 others(22): Show a0001c0001 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0013 a0001c0020 a0001c0023 a0002c0002 a0002c0003 a0002c0016 a0002c0027 a0003c0004 a0003c0031 a0003c0033 a0003c0036 a0003c0037 a0004c0015 a0004c0041 a0005c0006 a0005c0034 a0007c0017 a0007c0026 a0009c0048 a0015c0045	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0005t0001 a0001c0005t0004 a0001c0005t0005 a0001c0007t0003 a0001c0008t0001 a0001c0010t0002 a0001c0013t0001 a0001c0020t0001 a0001c0020t0007 a0001c0023t0001 a0002c0002t0001 a0002c0003t0001 a0002c0016t0001 a0002c0027t0001 a0003c0004t0001 a0003c0004t0005 a0003c0004t0008 a0003c0004t0011 a0003c0031t0006 a0003c0033t0004 a0003c0036t0001 a0003c0037t0009 a0004c0015t0001 a0004c0041t0004 a0005c0006t0001 a0005c0006t0005 a0005c0034t0001 a0007c0017t0001 a0007c0026t0001 a0009c0048t0005 a0015c0045t0001	a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0024 others(66): Show a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0349 a0001c0001t0001g0355 a0001c0001t0001g0357 a0001c0001t0001g0361 a0001c0001t0001g0363 a0001c0001t0001g0365 a0001c0001t0002g0030 a0001c0001t0004g0352 a0001c0001t0005g0245 a0001c0001t0005g0246 a0001c0001t0007g0374 a0001c0001t0007g0375 a0001c0001t0008g0061 a0001c0001t0010g0242 a0001c0001t0012g0370 a0001c0001t0014g0376 a0001c0005t0001g0348 a0001c0005t0004g0356 a0001c0005t0005g0067 a0001c0007t0003g0009 a0001c0008t0001g0007 a0001c0010t0002g0035 a0001c0010t0002g0362 a0001c0013t0001g0206 a0001c0013t0001g0366 a0001c0020t0001g0036 a0001c0020t0007g0373 a0001c0023t0001g0350 a0002c0002t0001g0001 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0018 a0002c0002t0001g0023 a0002c0002t0001g0312 a0002c0002t0001g0351 a0002c0002t0001g0360 a0002c0003t0001g0004 a0002c0003t0001g0019 a0002c0016t0001g0016 a0002c0016t0001g0017 a0002c0027t0001g0005 a0003c0004t0001g0022 a0003c0004t0005g0038 a0003c0004t0008g0068 a0003c0004t0011g0371 a0003c0031t0006g0344 a0003c0033t0004g0364 a0003c0036t0001g0046 a0003c0037t0009g0345 a0004c0015t0001g0002 a0004c0015t0001g0085 a0004c0015t0001g0358 a0004c0041t0004g0006 a0005c0006t0001g0015 a0005c0006t0001g0031 a0005c0006t0005g0069 a0005c0034t0001g0008 a0007c0017t0001g0311 a0007c0026t0001g0003 a0007c0026t0001g0013 a0009c0048t0005g0347 a0015c0045t0001g0021	69	376	0.1835	174	c.-12 others(193): Show c.-120-3581_-120-3580insCCTGCCATTATGCCCTGCTAATTTTT GTTGTTGTTGTTATTGTTTGAGATGGAGTTTCACTCTTGTTGCCCAAGCT GGAGTGCAGTGGCACGATCTCAGCTCACCTCAACCTCCGCTTCCCAGGTT CAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATCACAGGCA	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	1/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138789841	T T	TGCCTGTG others(167): Show TGCCTGTGATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAA TCTGGGAAGCGGAGGTTGAGGTGAGCTGAGATCGTGCCACTGCACTCCAG CTTGGGCAACAAGAGTGAAACTCCATCTCAAACAATAACAACAACAACAA AAATTAGCAGGGCATAATGGCAGGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(144): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00733.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01943.hp1 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02683.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG03017.hp1 HG03041.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp2 NA18747.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp2 NA18962.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18973.hp2 NA18975.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18991.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19006.hp2 NA19009.hp1 NA19011.hp1 NA19056.hp1 NA19058.hp1 NA19067.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19082.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011 a0014	a0001c0001 a0001c0005 a0001c0007 others(19): Show a0001c0001 a0001c0005 a0001c0007 a0001c0008 a0001c0014 a0001c0030 a0002c0002 a0002c0003 a0002c0016 a0002c0019 a0002c0025 a0002c0046 a0003c0004 a0003c0022 a0004c0011 a0004c0018 a0005c0006 a0006c0009 a0007c0017 a0008c0024 a0011c0028 a0014c0047	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0005t0001 a0001c0005t0003 a0001c0007t0001 a0001c0008t0001 a0001c0014t0001 a0001c0030t0001 a0002c0002t0001 a0002c0002t0003 a0002c0003t0001 a0002c0016t0001 a0002c0019t0001 a0002c0019t0003 a0002c0025t0001 a0002c0046t0001 a0003c0004t0001 a0003c0022t0001 a0003c0022t0003 a0004c0011t0001 a0004c0018t0001 a0005c0006t0001 a0006c0009t0001 a0007c0017t0001 a0007c0017t0002 a0008c0024t0002 a0011c0028t0001 a0014c0047t0001	a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0051 others(144): Show a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0106 a0001c0001t0001g0201 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0299 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0342 a0001c0001t0001g0368 a0001c0001t0002g0200 a0001c0001t0002g0241 a0001c0001t0002g0297 a0001c0001t0002g0331 a0001c0001t0003g0327 a0001c0001t0003g0343 a0001c0001t0013g0372 a0001c0005t0001g0032 a0001c0005t0001g0230 a0001c0005t0001g0231 a0001c0005t0001g0232 a0001c0005t0001g0313 a0001c0005t0003g0274 a0001c0007t0001g0055 a0001c0007t0001g0310 a0001c0007t0001g0318 a0001c0007t0001g0321 a0001c0007t0001g0333 a0001c0008t0001g0234 a0001c0008t0001g0235 a0001c0014t0001g0267 a0001c0030t0001g0204 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0203 a0002c0002t0001g0208 a0002c0002t0001g0227 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0247 a0002c0002t0001g0256 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0262 a0002c0002t0001g0264 a0002c0002t0001g0275 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0285 a0002c0002t0001g0291 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0307 a0002c0002t0001g0340 a0002c0002t0001g0369 a0002c0002t0003g0239 a0002c0003t0001g0240 a0002c0003t0001g0287 a0002c0003t0001g0300 a0002c0003t0001g0316 a0002c0003t0001g0329 a0002c0016t0001g0284 a0002c0019t0001g0236 a0002c0019t0003g0279 a0002c0025t0001g0205 a0002c0025t0001g0286 a0002c0046t0001g0367 a0003c0004t0001g0105 a0003c0004t0001g0207 a0003c0004t0001g0212 a0003c0004t0001g0226 a0003c0004t0001g0298 a0003c0022t0001g0289 a0003c0022t0003g0216 a0004c0011t0001g0060 a0004c0011t0001g0266 a0004c0011t0001g0273 a0004c0018t0001g0026 a0004c0018t0001g0280 a0005c0006t0001g0053 a0005c0006t0001g0054 a0005c0006t0001g0268 a0005c0006t0001g0269 a0005c0006t0001g0276 a0005c0006t0001g0301 a0005c0006t0001g0302 a0005c0006t0001g0303 a0005c0006t0001g0332 a0006c0009t0001g0202 a0006c0009t0001g0222 a0006c0009t0001g0223 a0006c0009t0001g0224 a0006c0009t0001g0258 a0006c0009t0001g0281 a0007c0017t0001g0353 a0007c0017t0002g0323 a0008c0024t0002g0324 a0008c0024t0002g0325 a0011c0028t0001g0059 a0014c0047t0001g0257	147	376	0.3910	174	c.-12 others(193): Show c.-120-3582_-120-3581insGCCTGCCATTATGCCCTGCTAATTTT TGTTGTTGTTGTTATTGTTTGAGATGGAGTTTCACTCTTGTTGCCCAAGC TGGAGTGCAGTGGCACGATCTCAGCTCACCTCAACCTCCGCTTCCCAGAT TCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATCACAGGC	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	1/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138789841	T T	TGCCTGTG others(167): Show TGCCTGTGATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAA TCTGGGAAGCGGAGGTTGAGGTGAGCTGAGATCGTGCCACTGCACTCCAT CTTGGGCAACAAGAGTGAAACTCCATCTCAAACAATAACAACAACAACAA AAATTAGCAGGGCATAATGGCAGGC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0341 a0003c0004t0001g0341	1	376	0.0027	174	c.-12 others(193): Show c.-120-3582_-120-3581insGCCTGCCATTATGCCCTGCTAATTTT TGTTGTTGTTGTTATTGTTTGAGATGGAGTTTCACTCTTGTTGCCCAAGA TGGAGTGCAGTGGCACGATCTCAGCTCACCTCAACCTCCGCTTCCCAGAT TCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATCACAGGC	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	1/21			chr7	TogoVar
ATP8A2_chr13_25366974_26030851	25465748	C C	CCTCCCTC others(167): Show CCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCTCTCTCTCTCTCTTTCTC TCTTTCTCTCTTTCTCTCTTTCTCTTTCTCTCTTTCTCTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCCCTCCCTCCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0117 a0001c0002t0022g0117	1	122	0.0082	174	c.77- others(189): Show c.77-3226_77-3225insCCTCCCTCCCTCCCTCCCTCCCTCTCTCTC TCTCTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTTTCTCTCTT TCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCCCTCCCTCCCTCCCTCTCTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B4_chr15_49853238_50124233	50085877	T T	TTATATAT others(167): Show TTATATATGATATATATCATATATATTTATATATGATATATATCATATAT ATATATATATGATATATATCATATATATTTATATATGATATATATCATAT ATATTTATATATGATATATATCATATATATTTATATATGATATATATCAT ATATATTTATATATGATATATATCA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	254	0.0039	174	c.29- others(191): Show c.29-11693_29-11692insTGATATATATCATATATAAATATATATG ATATATATCATATATAAATATATATGATATATATCATATATAAATATATA TGATATATATCATATATAAATATATATGATATATATCATATATATATATA TATGATATATATCATATATAAATATATATGATATATATCATATATA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50085877	T T	TTATATAT others(167): Show TTATATATGATATATATCATATATATTTATATATGATATATATCATATAT ATTTATATATGATATATATCATATATATTTATATATGATATATATCATAT ATATTTATATATGATATATATCATATATATTTATATATGATATATATCAT ATATATTTATATATGATATATATCA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01934.hp1 HG02148.hp2 HG01192.hp1 HG01934.hp1 HG02148.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0003g0120 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0003g0120	3	254	0.0118	174	c.29- others(191): Show c.29-11693_29-11692insTGATATATATCATATATAAATATATATG ATATATATCATATATAAATATATATGATATATATCATATATAAATATATA TGATATATATCATATATAAATATATATGATATATATCATATATAAATATA TATGATATATATCATATATAAATATATATGATATATATCATATATA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
AXIN1_chr16_282440_357723	285902	T T	TCCCAACC others(167): Show TCCCAACCCCAACCCCAACCCCAACCCCAACACCAACCCCGCGGTTCTCC CAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAAC CCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCA ACCCCGCGGTTCTCCCAACCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0014 a0001c0027t0014	a0001c0027t0014g0093 a0001c0027t0014g0093	1	378	0.0027	174	c.22 others(185): Show c.2219_*2220insGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGG GGTTGGGAGAACCGCGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGAGA ACCGCGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGGGAGAACCG CGGGGTTGGTGTTGGGGTTGGGGTTGGGGTTGGGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1537		chr16	TogoVar
AXIN1_chr16_282440_357723	321707	G G	GCCAACCC others(167): Show GCCAACCCACGAAGGGTTAAACCCTCTCATAGCTGGGAATATGAGGTAGA AGGCGGATTCCAACCCACGAAGGGTTAAACCCTCTCATAGCTGGGAATAT GAGGTAGAAGGCGGATGCCAACCCACGAAGGGTTAAACCCTCTCATAGCT GGGAATATGAGGTAGAAGGCGGATT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0112 a0001c0013t0001g0112	1	378	0.0027	174	c.879 others(191): Show c.879-7025_879-7024insAATCCGCCTTCTACCTCATATTCCCAGC TATGAGAGGGTTTAACCCTTCGTGGGTTGGCATCCGCCTTCTACCTCATA TTCCCAGCTATGAGAGGGTTTAACCCTTCGTGGGTTGGAATCCGCCTTCT ACCTCATATTCCCAGCTATGAGAGGGTTTAACCCTTCGTGGGTTGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10			chr16	TogoVar
BCL11A_chr2_60452194_60558654	60467531	A A	ATGGTGGT others(167): Show ATGGTGGTGGTGGTGGTGATGGTACTGGTGGTGATGGTACTGGTGGTGAT GGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTGGAGATGGTGG TGTTGATGGTGATGGTACTGGTGGTGATGGTACTGGTGGTGATGGTGATG GTGGTGGTGGTGGTGATGCTACTGG	intron_variant intron_variant	MODIFIER	HG01257.hp1 NA20752.hp1 HG01257.hp1 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0005 a0001c0002 a0004c0005	a0001c0002t0001 a0004c0005t0002 a0001c0002t0001 a0004c0005t0002	a0001c0002t0001g0024 a0004c0005t0002g0100 a0001c0002t0001g0024 a0004c0005t0002g0100	2	262	0.0076	174	c.487 others(191): Show c.487+1200_487+1201insCCAGTAGCATCACCACCACCACCACCAT CACCATCACCACCAGTACCATCACCACCAGTACCATCACCATCAACACCA CCATCTCCACCACCACCATTACCACCACCATCACTACCACCACCACCATC ACCACCAGTACCATCACCACCAGTACCATCACCACCACCACCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BFSP2_chr3_133395056_133480208	133425953	G G	GGGGGAAG others(167): Show GGGGGAAGTGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGA GGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAAG GGGAGGGGAGGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	276	0.0036	174	c.490 others(193): Show c.490-21359_490-21358insAGTGGAGGGGAGGGGGAGGGGAGGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGG AAGGGGAGGGGAAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGA GGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133425953	G G	GGGGGAAG others(167): Show GGGGGAAGTGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGA GGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGG GGAAGGGGAGGGGAGGGGAAGGGGA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	276	0.0036	174	c.490 others(193): Show c.490-21359_490-21358insAGTGGAGGGGAGGGGGAGGGGAGGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGG AAGGGGAGGGGAAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGA GGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236268	A A	GTATATAC others(167): Show GTATATACCCATGGGTATATATATATATATATATATATATACCCATGGGT ATATATATATATATATATATATATATACCCATGGGTATATATATATATAT ATATATATATATATACCCATGGGTATATATATATATATATATATATATAC CCATGGGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	386	0.0026	174	c.-81 others(193): Show c.-81-13455_-81-13454insGTATATACCCATGGGTATATATATAT ATATATATATATATACCCATGGGTATATATATATATATATATATATATAT ACCCATGGGTATATATATATATATATATATATATATATACCCATGGGTAT ATATATATATATATATATATATACCCATGGGTATATATATATATATAT	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19			chr3	TogoVar
BOC_chr3_113206557_113292459	113236284	A A	ATATATAT others(167): Show ATATATATATATATATATATATATATATATACCCATGGGTATATATATAT ATATATATATATATATATACCCATGGGTATATATATATACCCATGGGTAT ATATATATATATATATATATATATATACCCATGGGTATATATATATATAT ATATATATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0185 a0001c0001t0019g0185	1	386	0.0026	174	c.-81 others(193): Show c.-81-13410_-81-13409insTACCCATGGGTATATATATATATATA TATATATATATATACCCATGGGTATATATATATACCCATGGGTATATATA TATATATATATATATATATATACCCATGGGTATATATATATATATATATA TATATATATATACCCATGGGTATATATATATATATATATATATATATA	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(167): Show ATATATATATATATATATATATACCCATGGGTATATATATATATATATAT ATATATATACCCATGGGTATATATATATATATATATATATACCCATGGGT ATATATATATATATATATATATATATATATACCCATGGGTATATATATAT ATATATATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18974.hp1 NA18980.hp1 others(1): Show HG03834.hp2 NA18974.hp1 NA18980.hp1 NA19086.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0037 a0001c0003t0003 a0001c0003t0037	a0001c0003t0003g0079 a0001c0003t0003g0096 a0001c0003t0003g0157 others(1): Show a0001c0003t0003g0079 a0001c0003t0003g0096 a0001c0003t0003g0157 a0001c0003t0037g0181	4	386	0.0104	174	c.-81 others(193): Show c.-81-13412_-81-13411insCCCATGGGTATATATATATATATATA TATATATATACCCATGGGTATATATATATATATATATATATACCCATGGG TATATATATATATATATATATATATATATATACCCATGGGTATATATATA TATATATATATATATATACCCATGGGTATATATATATATATATATATA	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(167): Show ATATATATATATATATATATATACCCATGGGTATATATATATATATATAT ATATATATACCCATGGGTATATATATATATATATATATATATATATATAC CCATGGGTATATATATATATATATATATATATATACCCATGGGTATATAT ATATATATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0349 a0001c0003t0003g0349	1	386	0.0026	174	c.-81 others(193): Show c.-81-13412_-81-13411insCCCATGGGTATATATATATATATATA TATATATATACCCATGGGTATATATATATATATATATATATATATATATA CCCATGGGTATATATATATATATATATATATATATACCCATGGGTATATA TATATATATATATATATACCCATGGGTATATATATATATATATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BRSK2_chr11_1384934_1467689	1435206	A A	AGAGGAGG others(167): Show AGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGG GTCTCAGCGGAGGAGGGGTGCCGGTGGATGTCTCAGCGGAGGAGGGGTGC CGGTGGGGGTCTCAGCGGAGGAGGGGTGCCGGTGGATGTCTCAGCGGAGG AGGGGTGCCGGTGGGGGTCTCAGCG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01978.hp1 HG02273.hp2 HG01952.hp2 HG01978.hp1 HG02273.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0007 a0001c0001t0001 a0002c0002t0007	a0001c0001t0001g0313 a0002c0002t0007g0304 a0002c0002t0007g0309 a0001c0001t0001g0313 a0002c0002t0007g0304 a0002c0002t0007g0309	3	360	0.0083	174	c.92- others(187): Show c.92-809_92-808insGGCGGAGGAGGGGTGCCGGTGGGGGTCTCAGC GGAGGAGGGGTGCCGGTGGATGTCTCAGCGGAGGAGGGGTGCCGGTGGGG GTCTCAGCGGAGGAGGGGTGCCGGTGGATGTCTCAGCGGAGGAGGGGTGC CGGTGGGGGTCTCAGCGGAGGAGGGGTGCCGGTGGGGGTCTC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1435232	A A	AGCGGAGG others(167): Show AGCGGAGGAGGGGTGCCGGTGGATGTCTCAGCGGAGGAGGGGTGCCGGTG GGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGG TGCCGGTGGATGTCTCAGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGG AGGAGGGGTGCCGGTGGGGGTCTCG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0255 a0002c0002t0023g0255	1	360	0.0028	174	c.92- others(187): Show c.92-787_92-786insATGTCTCAGCGGAGGAGGGGTGCCGGTGGGGG TCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCC GGTGGATGTCTCAGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGA GGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1435232	A A	AGCGGAGG others(167): Show AGCGGAGGAGGGGTGCCGGTGGGGGTCTCAGCGGAGGAGGGGTGCCGGTG GGGGTCTCAGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGG TGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGG AGGAGGGGTGCCGGTGGGGGTCTCG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0220 a0001c0001t0003g0220	1	360	0.0028	174	c.92- others(187): Show c.92-780_92-779insAGCGGAGGAGGGGTGCCGGTGGGGGTCTCAGC GGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGG GTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGC CGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1435319	G G	GGCGGAGG others(167): Show GGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTG GGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCAGCGGAGGAGGGG TGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCAGCGG AGGAGGGGTGCCGGTGGATGTCTCA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	360	0.0028	174	c.92- others(187): Show c.92-635_92-634insAGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGC GGAGGAGGGGTGCCGGTGGGGGTCTCAGCGGAGGAGGGGTGCCGGTGGAT GTCTCAGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGC CGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C18orf63_chr18_74310839_74364189	74361934	A A	AATTATAT others(167): Show AATTATATATTTACGTATAATATAATTTATAATTATATATTTACGTATAA TATAATTTATAATTATATATTTATGTATAATATAATTTATAATTATATAC GTACAATATAATTTATATTATATATGTATATAATATAATTTATATTATAT ATTTATATATAATATAATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02630.hp2 HG02723.hp1 others(2): Show HG02109.hp1 HG02630.hp2 HG02723.hp1 HG03130.hp2 HG03486.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0016c0019 a0001c0001 a0016c0019	a0001c0001t0007 a0016c0019t0007 a0001c0001t0007 a0016c0019t0007	a0001c0001t0007g0014 a0001c0001t0007g0110 a0016c0019t0007g0014 a0001c0001t0007g0014 a0001c0001t0007g0110 a0016c0019t0007g0014	5	372	0.0134	174	c.54 others(185): Show c.5487_*5488insATTATATATTTACGTATAATATAATTTATAATTA TATATTTACGTATAATATAATTTATAATTATATATTTATGTATAATATAA TTTATAATTATATACGTACAATATAATTTATATTATATATGTATATAATA TAATTTATATTATATATTTATATATAATATAATTTATATT	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2746		chr18	TogoVar
C1orf159_chr1_1076823_1121089	1077479	G G	GGGGGGTG others(167): Show GGGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATG GGACTCCGTGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGG GGAGGCTGAGGCTATGGGGACTCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	326	0.0031	174	c.54 others(185): Show c.5413_*5414insACGAGTCCCCATAGCCTCAGCCTCCCCCACGGAG TCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCTCCCCCACGGAGTCCCATAGCCTC AGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCACCCCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4343		chr1	TogoVar
C2orf16_chr2_27532386_27587722	27539791	G G	GTCCTCAC others(167): Show GTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACAGGGCAGCTGGCCGACCCCCCCCCCCCCCCCCGCCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0019 a0002c0006t0001g0019	1	326	0.0031	174	c.144 others(191): Show c.144+2274_144+2275insGGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACAGGGCAGCTGGCCGACCCCCCCCCCCCCC CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27539826	C C	CGCCCCTC others(167): Show CGCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCCCCCCCC GCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0002 a0006c0005t0002	a0006c0005t0002g0018 a0006c0005t0002g0018	1	326	0.0031	174	c.144 others(191): Show c.144+2274_144+2275insGGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCCCCC CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGAC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C4orf19_chr4_37448925_37598510	37585322	T T	TGAGGGAA others(167): Show TGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGG AGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAG GGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGG GAGGGGAGGGGAGAGGAGAGATATC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02257.hp1 HG02559.hp1 others(4): Show HG01243.hp2 HG02257.hp1 HG02559.hp1 HG02976.hp2 HG03041.hp2 HG03453.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0034 a0001c0001t0001 a0001c0001t0034	a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0055 others(4): Show a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0106 a0001c0001t0001g0133 a0001c0001t0001g0330 a0001c0001t0034g0104	7	354	0.0198	174	c.-22 others(191): Show c.-22-3518_-22-3517insAGGGAGGGGAGAGGAGAGGTGTTGAGGG AGGGGAGGGTAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGAT GTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGA GGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATATCGAGGGA	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585351	T T	TGAGGGAG others(167): Show TGAGGGAGGGGAGGGTAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGG AGAGGTATTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAG GGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAAAGGTGTTGAGG GAGGGGAGGGGAGAGGAGAGATATC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0083 a0001c0001t0005g0083	1	354	0.0028	174	c.-22 others(191): Show c.-22-3481_-22-3480insTAGAGGAGAGGTGTTGAGGGAGGGGAGG GTAGAGGAGAGGTATTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGG AGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAAAGGT GTTGAGGGAGGGGAGGGGAGAGGAGAGATATCGAGGGAGGGGAGGG	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585376	G G	GTGTTGAG others(167): Show GTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGA GAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAAG GGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTATT GAGGGAGGGGAGGGGAGAGGAGAGA	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA19009.hp1 HG02129.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0273 a0001c0001t0001g0235 a0001c0001t0001g0273	2	354	0.0057	174	c.-22 others(191): Show c.-22-3459_-22-3458insAGGAGGGGAGAGGAGAGGTGTTGAGGGA GAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAGGTG TTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAG GAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAG	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585387	G G	GAGGAGGG others(167): Show GAGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTG TTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAG GAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGA GGGGAGATCAGAGGTGTTGAGGGAA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	354	0.0028	174	c.-22 others(191): Show c.-22-3459_-22-3458insAGGAGGGGAGAGGAGAGGTGTTGAGGGA GGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTG TTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAG GAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAA	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3			chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585436	A A	ATTGAGGG others(167): Show ATTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGA GGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGG AGGGGAGAGGAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGA GGGAGGGGAGGGGAGAGGAGAGGTG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0045 a0001c0001t0013g0045	1	354	0.0028	174	c.-22 others(191): Show c.-22-3384_-22-3383insATGTTGAGGGAGGGGAGGGGAGAGGAGA GATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGG AGAGGAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAG GGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAG	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585467	T T	TGAGGGAG others(167): Show TGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGG AGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGGAGGGGAG GGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGG GAGGGGAGGGGAGAGGAGAGATATC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA19085.hp1 NA18955.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0323 a0001c0001t0001g0324	2	354	0.0057	174	c.-22 others(191): Show c.-22-3372_-22-3371insAGGAGGGGAGATCAGAGGTGTTGAGGGA AGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTA TTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAG GAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATATCGAGGGAG	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585494	A A	ATTGAGGG others(167): Show ATTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGA GGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGG AGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATATCGA GGGAGGGGAGGGGAGAGGAGAGGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02922.hp1 others(2): Show HG01884.hp2 HG01891.hp2 HG02922.hp1 HG03195.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0001 a0001c0001t0009g0181 a0001c0001t0009g0348 others(1): Show a0001c0001t0009g0001 a0001c0001t0009g0181 a0001c0001t0009g0348 a0001c0001t0009g0349	5	354	0.0141	174	c.-22 others(191): Show c.-22-3327_-22-3326insGATGTTGAGGGAGGGGAGGGGAGAGGAG AGATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGG GAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATATCGAGGGA GGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGA	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585533	G G	GGGAGGGT others(167): Show GGGAGGGTAGAGGAGAGGTATTGAGGGAGAGGAGGGGAGAGGAGAGGTGT TGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGG AGAGGTGTTGAGGGAGGGGAGAGGAGAGGAGAGGTGTTGAGGGAGAGGAG GGGAGAGGAGAGGTGTTGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0018 a0002c0002t0004g0018	1	354	0.0028	174	c.-22 others(191): Show c.-22-3307_-22-3306insTAGAGGAGAGGTATTGAGGGAGAGGAGG GGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGG AGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGAGGAGAGGAGAGGT GTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGG	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C5AR1_chr19_47304861_47327066	47305966	A A	ATTTTTTT others(167): Show ATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCGCGCCCGGCTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp1 others(152): Show HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG01074.hp2 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02622.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18950.hp2 NA18952.hp2 NA18954.hp2 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18973.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19064.hp1 NA19065.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0009 a0001c0001 a0001c0008 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0008t0001 a0001c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(89): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0015 a0001c0001t0002g0032 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0070 a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0010 a0001c0001t0003g0015 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0036 a0001c0001t0003g0039 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0060 a0001c0001t0003g0066 a0001c0001t0003g0071 a0001c0001t0003g0073 a0001c0001t0003g0077 a0001c0001t0003g0085 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0007g0088 a0001c0001t0008g0015 a0001c0001t0009g0065 a0001c0001t0011g0022 a0001c0001t0014g0022 a0001c0008t0001g0010 a0001c0009t0001g0063	155	376	0.4122	174	c.-39 others(185): Show c.-3930_-3929insTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT	C5AR1	ENSG00000197405.8	transcript	ENST00000355085.4	protein_coding		3894		chr19	TogoVar
C7orf33_chr7_148585766_148620860	148617079	G G	ACACACGG others(167): Show ACACACGGGAATTACAGATCCCTCCCTCAACACACGGGAATTACAGATCC CTCCCTCAACACACGGGAATTACAGATCCCTCCCTCAACACACGGGAATT ACAGATCCCTCCCTCAACACACGGGAATTACAGATCCCTCCCTCAACACA CGGGAATTACAGATCCCTCCCGCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0396 a0001c0001t0003g0396	1	444	0.0023	174	c.16 others(185): Show c.1677_*1678insACACACGGGAATTACAGATCCCTCCCTCAACACA CGGGAATTACAGATCCCTCCCTCAACACACGGGAATTACAGATCCCTCCC TCAACACACGGGAATTACAGATCCCTCCCTCAACACACGGGAATTACAGA TCCCTCCCTCAACACACGGGAATTACAGATCCCTCCCGCA	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding		1219		chr7	TogoVar

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