Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EXOC2_chr6_480154_698139	521074	A A	ACCCACCG others(343): Show ACCCACCGAGCGCCAACACTCACCGTCCACACTCGGACATGAAAATCACC ACCCACCGAGCGCCAACACTCACCGTCCACACTCGGAGATGAAAACAACC ACCCACCGAGCCCCGATACTCACCGTCCACACTCGGAGACGAAAACAACC GCCCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGAGGAAAACCACC ACCCACCGAGCGCCGACACTCGCCGTCCACACTCGGACATGAAAACCACC ACCCATCGAGCGCCAACACTCACCGTCCACACTCGGAGATGAAAACAACC ACCCACCGAGCCCCGATACTCACCGTCCACACTCGGAGATGAAAACAACC G	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	272	0.0037	350	c.238 others(371): Show c.2380+11394_2380+11395insCGGTTGTTTTCATCTCCGAGTGTG GACGGTGAGTATCGGGGCTCGGTGGGTGGTTGTTTTCATCTCCGAGTGTG GACGGTGAGTGTTGGCGCTCGATGGGTGGTGGTTTTCATGTCCGAGTGTG GACGGCGAGTGTCGGCGCTCGGTGGGTGGTGGTTTTCCTCTCCGAGTGTG GACGGCGAGTGTCGGCGCTCGGTGGGCGGTTGTTTTCGTCTCCGAGTGTG GACGGTGAGTATCGGGGCTCGGTGGGTGGTTGTTTTCATCTCCGAGTGTG GACGGTGAGTGTTGGCGCTCGGTGGGTGGTGATTTTCATGTCCGAGTGTG GACGGTGAGTGTTGGCGCTCGGTGGG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	521074	A A	ACCCACCG others(343): Show ACCCACCGAGCGCCAACACTCACCGTCCACACTCGGACATGAAAATCACC ACCCACCGAGCGCCAACACTCACCGTCCACACTCGGAGATGAAAACAACC ACCCACCGAGCCCCGATACTCACCGTCCACACTCGGAGATGAAAACAACC GCCCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGAGGAAAACCACC ACCCACCGAGCGCCGACACTCGCCGTCCACACTCGGACATGAAAACCACC ACCCATCGAGCGCCAACACTCACCGTCCACACTCGGAGATGAAAACAACC ACCCACCGAGCCCCGATACTCACCGTCCACACTCGGAGATGAAAACAACC G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG01109.hp1 others(28): Show HG00323.hp1 HG00323.hp2 HG01109.hp1 HG01192.hp1 HG01517.hp1 HG01952.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02074.hp1 HG02523.hp1 HG02559.hp2 HG02717.hp2 HG02818.hp1 HG02895.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03471.hp2 HG04184.hp2 NA18946.hp2 NA18947.hp1 NA18973.hp1 NA19030.hp1 NA19072.hp1 NA19074.hp2 NA19085.hp1 NA20129.hp1 NA21309.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0006c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0018 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0003t0001 a0001c0003t0016 a0001c0003t0017 a0001c0007t0002 a0006c0023t0002	a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(28): Show a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0142 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0199 a0001c0001t0003g0028 a0001c0001t0003g0198 a0001c0001t0005g0091 a0001c0001t0006g0093 a0001c0001t0007g0001 a0001c0001t0008g0147 a0001c0001t0009g0107 a0001c0001t0009g0112 a0001c0001t0015g0019 a0001c0001t0018g0083 a0001c0002t0002g0047 a0001c0002t0004g0009 a0001c0002t0004g0070 a0001c0002t0004g0113 a0001c0002t0008g0175 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0016g0029 a0001c0003t0017g0193 a0001c0007t0002g0196 a0006c0023t0002g0051	31	272	0.1140	350	c.238 others(371): Show c.2380+11394_2380+11395insCGGTTGTTTTCATCTCCGAGTGTG GACGGTGAGTATCGGGGCTCGGTGGGTGGTTGTTTTCATCTCCGAGTGTG GACGGTGAGTGTTGGCGCTCGATGGGTGGTGGTTTTCATGTCCGAGTGTG GACGGCGAGTGTCGGCGCTCGGTGGGTGGTGGTTTTCCTCTCCGAGTGTG GACGGCGAGTGTCGGCGCTCGGTGGGCGGTTGTTTTCATCTCCGAGTGTG GACGGTGAGTATCGGGGCTCGGTGGGTGGTTGTTTTCATCTCCGAGTGTG GACGGTGAGTGTTGGCGCTCGGTGGGTGGTGATTTTCATGTCCGAGTGTG GACGGTGAGTGTTGGCGCTCGGTGGG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	521074	A A	ACCCACCG others(343): Show ACCCACCGAGCGCCAACACTCACCGTCCACACTCGGACATGAAAATCACC ACCCACCGAGCGCCAACACTCACCGTCCACACTCGGAGATGAAAACAACC ACTCACCGAGCCCCGATACTCACCGTCCACACTCGGAGATGAAAACAACC GCCCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGAGGAAAACCACC ACCCACCGAGCGCCGACACTCGCCGTCCACACTCGGACATGAAAACCACC ACCCATCGAGCGCCAACACTCACCGTCCACACTCGGAGATGAAAACAACC ACCCACCGAGCCCCGATACTCACCGTCCACACTCGGAGATGAAAACAACC G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02886.hp1 HG01109.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0002 a0001c0020t0001 a0001c0001t0002 a0001c0020t0001	a0001c0001t0002g0189 a0001c0020t0001g0200 a0001c0001t0002g0189 a0001c0020t0001g0200	2	272	0.0074	350	c.238 others(371): Show c.2380+11394_2380+11395insCGGTTGTTTTCATCTCCGAGTGTG GACGGTGAGTATCGGGGCTCGGTGGGTGGTTGTTTTCATCTCCGAGTGTG GACGGTGAGTGTTGGCGCTCGATGGGTGGTGGTTTTCATGTCCGAGTGTG GACGGCGAGTGTCGGCGCTCGGTGGGTGGTGGTTTTCCTCTCCGAGTGTG GACGGCGAGTGTCGGCGCTCGGTGGGCGGTTGTTTTCATCTCCGAGTGTG GACGGTGAGTATCGGGGCTCGGTGAGTGGTTGTTTTCATCTCCGAGTGTG GACGGTGAGTGTTGGCGCTCGGTGGGTGGTGATTTTCATGTCCGAGTGTG GACGGTGAGTGTTGGCGCTCGGTGGG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	601492	A A	ACACACAT others(343): Show ACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACATTCTCAC ACCAAGAACACCCCGTGTGCGAATCCACATTCTCACACCAAGAACACCCC GTCTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAAT CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCA AGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCC GTCTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAAT C	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA20129.hp2 HG02258.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0014 a0001c0001 a0004c0014	a0001c0001t0019 a0004c0014t0003 a0001c0001t0019 a0004c0014t0003	a0001c0001t0019g0090 a0004c0014t0003g0218 a0001c0001t0019g0090 a0004c0014t0003g0218	2	272	0.0074	350	c.743 others(367): Show c.743-2268_743-2267insGATTCGCACACGGGGTGTTCTTGGTGTG AGAATGTGTGTGGATTCGCAGACGGGGTGTTCTTGGTGTGAGAATGTGTG TGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCA CACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGT TCTTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTG AGAATGTGTGTGGATTCGCAGACGGGGTGTTCTTGGTGTGAGAATGTGGA TTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGGATTCGCACACGGGGT GTTCTTGGTGTGAGAATGTGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
FAM135B_chr8_138125023_138502261	138313722	T T	TAAGATAC others(343): Show TAAGATACAAGCTACGGCCGGGCGCGGTGGCTCGTGCCTGTAATCCTAGC ACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCTTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAATACAAAAAATTA GCCGGGCGTGTTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0006 a0003c0001t0006	a0003c0001t0006g0162 a0003c0001t0006g0162	1	212	0.0047	350	c.78- others(365): Show c.78-2803_78-2802insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCC GGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGG GTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGTCTCGGCCTCCCAAAGTGCTAGGATTACAGGCACGAGCCACCGCGC CCGGCCGTAGCTTGTATCTT	FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	2/19			chr8	TogoVar
FARS2_chr6_5256513_5776583	5525242	T T	TTGGTGTA others(343): Show TTGGTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGG ACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCG CCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCT CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCC A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	170	0.0059	350	c.905 others(369): Show c.905-19937_905-19936insGGTGTATTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCTGGCCCAT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAXC_chr6_99266168_99354674	99317526	T T	TAAGAAAC others(343): Show TAAGAAACCAAGGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0112 a0001c0001t0112	a0001c0001t0112g0266 a0001c0001t0112g0266	1	398	0.0025	350	c.823 others(367): Show c.823+5917_823+5918insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCC GGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCTACCTTGGTTTCTT	FAXC	ENSG00000146267.12	transcript	ENST00000389677.6	protein_coding	4/5			chr6	TogoVar
FBXO34_chr14_55266421_55358611	55331803	T T	TATATATA others(343): Show TATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACAC CACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATAT ATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATA TACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTG TATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATAT ATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCG TGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAA A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	334	0.0030	350	c.-10 others(369): Show c.-10-18559_-10-18558insTGGTGTATATATAAAAATATATATAT ACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGT ATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATA TATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGT GGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAA ATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACACC ACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATA TAAAAATATATATATACACCACCG	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FHIT_chr3_59742277_61256452	59986774	A A	ATATATTT others(343): Show ATATATTTATATAAATATATAAATATATTTATATAAATATATAAATATAT TTATATAAATATATTATATAAATATATTTATATAATATATTTATATAAAT ATATAAATATATTTATATAAATATATAAATATATTTATATAAATATATAA ATATATTTATATAAATATATAAATATATTTATATAAATATATAAATATAA ATATATTTATATAAATATATAAATATAAATATATTTATATAAATATATAA ATATAAATATATTTATATAAATATATAAATATAAATATATTATATAAATA TATTTATATTTATATAATATATTTATATAAATATATAAATATAAATATAT T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0024 a0001c0003t0003g0024	1	46	0.0217	350	c.279 others(369): Show c.279+24596_279+24597insAATATATTTATATTTATATATTTATA TAAATATATTATATAAATATAAATATATTTATATAATATATTTATATTTA TATATTTATATAAATATATTTATATTTATATATTTATATAAATATATTTA TATTTATATATTTATATAAATATATTTATATTTATATATTTATATAAATA TATTTATATATTTATATAAATATATTTATATATTTATATAAATATATTTA TATATTTATATAAATATATTTATATATTTATATAAATATATTATATAAAT ATATTTATATAATATATTTATATAAATATATTTATATATTTATATAAATA TATTTATATATTTATATAAATATA	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	7/9			chr3	TogoVar
FLACC1_chr2_201283271_201362345	201284713	A A	AGGGAGAC others(343): Show AGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGG AGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAC GGGAGACGGGAGAGGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAG GGAGAGGGAGACGGGGAGGAGGGAGAGGGAGACGGGGAGAGGGAGACGGG AGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGGAG AGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGG AGACGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0314 a0001c0001t0012g0314	1	370	0.0027	350	c.39 others(361): Show c.3941_*3942insCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTC CCCGTCTCCCTCTCCCTCTCCCCGCCTCCCTCTCCCTCTCCCCGTCTCCC TCTCCCTCTCCCCGTCTCCCGTCTCCCTCTCCCCGTCTCCCTCTCCCTCC TCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCGTCTCCCTCTCC CTCCTCTCCCGTCTCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCC TCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTC CCTCTCCCCGTCTCCC	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding		3557		chr2	TogoVar
FLT3_chr13_27998274_28105576	27999039	A A	ATAAATAT others(343): Show ATAAATATATATGTATATACATATATATGTATGTATATTATATACATATA AATATATATATTTATATACATATAAATATATATATTTATATACATATAAA TATATATTTACATACATATAAATATATATTTACATACATATAAATATATA TATTTATATACATATAATACATATACATATATACATATAAATATATATTT ATATACATATAAATATATATATTTTATATATATTTATATACATATAAATA TATATATTTTATATATATTTATATACATATAAATATATATATTTTATATA TATTTATATATATAATATATATATTTATATATATATATAAATATATATAT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0241 a0003c0003t0006g0241	1	292	0.0034	350	c.50 others(361): Show c.5012_*5013insAATATATATATTTATATATATATATAAATATATA TATTATATATATAAATATATATAAAATATATATATTTATATGTATATAAA TATATATAAAATATATATATTTATATGTATATAAATATATATAAAATATA TATATTTATATGTATATAAATATATATTTATATGTATATATGTATATGTA TTATATGTATATAAATATATATATTTATATGTATGTAAATATATATTTAT ATGTATGTAAATATATATTTATATGTATATAAATATATATATTTATATGT ATATAAATATATATATTTATATGTATATAATATACATACATATATATGTA TATACATATATATTTA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4234		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAC others(343): Show GTATATACATATATATGTATGTATATTATATACATATAAATATATATGTA TATAAATATAAATATATATATTTATATACATATAAATATATATTTATATA CATATAAATATATATTTACATACATATAAATATATATTTACATACATATA AATATATATATTTATATACATATAATACATATACATATATACATATAAAT ATATATTTATATACATATAAATATATATATATTTATATATATTTATATAT ACATATAAATATATATTTATATACATATAAATATATAATTATATACATAT AAATATATATAATTATATACATATAAATATATATTTATATACATATAAAT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0004 a0004	a0004c0048 a0004c0048	a0004c0048t0001 a0004c0048t0001	a0004c0048t0001g0238 a0004c0048t0001g0238	1	292	0.0034	350	c.49 others(361): Show c.4960_*4961insAATTTATATGTATATAAATATATATTTATATGTA TATAATTATATATATTTATATGTATATAATTATATATTTATATGTATATA AATATATATTTATATGTATATATAAATATATATAAATATATATATATTTA TATGTATATAAATATATATTTATATGTATATATGTATATGTATTATATGT ATATAAATATATATATTTATATGTATGTAAATATATATTTATATGTATGT AAATATATATTTATATGTATATAAATATATATTTATATGTATATAAATAT ATATATTTATATTTATATACATATATATTTATATGTATATAATATACATA CATATATATGTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999113	A A	ATTTATAT others(343): Show ATTTATATACATATAAATATATATTTACATACATATAAATATATATTTAC ATACATATAAATATATATTTACATACATATAAATATATATATTTATATAC ATATAATACATATACATATATACATATAAATATATATTTATATACATATA AATATATATATATTTATATACATTTATATATATAAATATATATTTATATA TATATAAATATATATATATTTATATATATATAAATATATATATTTATATA TACACATATAAATATATATTTATATACATATAAATATATATACATATAAA TATATATATTTATATACATATAAATTTATATACATATAAATATAAATATT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0021 a0021	a0021c0038 a0021c0038	a0021c0038t0001 a0021c0038t0001	a0021c0038t0001g0239 a0021c0038t0001g0239	1	292	0.0034	350	c.49 others(361): Show c.4938_*4939insAAATATTTATATTTATATGTATATAAATTTATAT GTATATAAATATATATATTTATATGTATATATATTTATATGTATATAAAT ATATATTTATATGTGTATATATAAATATATATATTTATATATATATAAAT ATATATATATTTATATATATATAAATATATATTTATATATATAAATGTAT ATAAATATATATATATTTATATGTATATAAATATATATTTATATGTATAT ATGTATATGTATTATATGTATATAAATATATATATTTATATGTATGTAAA TATATATTTATATGTATGTAAATATATATTTATATGTATGTAAATATATA TTTATATGTATATAAA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4160		chr13	TogoVar
FNDC5_chr1_32857268_32875912	32867485	A A	AGAAGCTG others(343): Show AGAAGCTGAACCTCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGC GGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCC CGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	414	0.0024	350	c.499 others(365): Show c.499+267_499+268insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAGAAGAGGTTCAGCTTC	FNDC5	ENSG00000160097.21	transcript	ENST00000373471.9	protein_coding	4/5		WARNING_TRANSCRIPT_NO_START_CODON	chr1	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCCTCCCC others(343): Show CCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCCCCTCCAGCCTACCCC TCCCCCCGCCCCACCCCCTCCTCCCCGCCCCCCCTCCAGCCTACCCCTCC CCCCCACCCACCTCTCTCCTCCCGCCTCCCCCCACCCAGCCTACCCCCTC CCCCCGCCACCACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCG CCCACCCCCTCCTCCCGCCTCCCCCCCAGCCTACCCCCCTCCCCCCCGCC CCACCACCCCTCCTCCCGCCCCCCTCCAGCCTATCCCTCCCCCCGCCCAC TTCTCCCGCCCCCCCAGCCTACCCCTCCCCCCGCCCACCCCCCTCCCGCC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0000 a0002c0005t0001g0000	1	406	0.0025	350	c.33 others(361): Show c.3310_*3311insCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCC CCTCCAGCCTACCCCTCCCCCCGCCCCACCCCCTCCTCCCCGCCCCCCCT CCAGCCTACCCCTCCCCCCCACCCACCTCTCTCCTCCCGCCTCCCCCCAC CCAGCCTACCCCCTCCCCCCGCCACCACCCCCCTCCCGCCCCCCTCCAGC CTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCCCCCCAGCCTACC CCCCTCCCCCCCGCCCCACCACCCCTCCTCCCGCCCCCCTCCAGCCTATC CCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCCCGCC CACCCCCCTCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2469		chr6	TogoVar
FTCD_chr21_46131779_46160579	46140753	C C	CCCAGCAC others(343): Show CCCAGCACTCCTCGTCCACCTTCACATTGTTCGCAGGGAATGTAAATCAA CCCAGCCCTCCCCGTCCACCTTCGCATTGCTCAGAGGGAGTGTAAACCAA CCCAGCACTCCCCGTCCACCTTCACGTGGCTCACAGGGAGTGTAAACCAA TCCAGCACTCCCCGTCTGCCTTCACATTGCTCACAGGGAGCGTAAACCAA CCCAGCACTCCCCGTCCACCTTCACGTGGCTCACAGGGAGCGTAAACCAA TCCAGCACTCCCCGTCAGCCTTCACATTGCTCACAGGGAGCGTAAACCAA TCCAGCACTCCCCGTCTGCCTTCACATTGCTCACAGGGAGCGTAAACCAA T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0201 a0002c0006t0004g0201	1	230	0.0044	350	c.126 others(369): Show c.1261-1831_1261-1830insATTGGTTTACGCTCCCTGTGAGCAAT GTGAAGGCAGACGGGGAGTGCTGGATTGGTTTACGCTCCCTGTGAGCAAT GTGAAGGCTGACGGGGAGTGCTGGATTGGTTTACGCTCCCTGTGAGCCAC GTGAAGGTGGACGGGGAGTGCTGGGTTGGTTTACGCTCCCTGTGAGCAAT GTGAAGGCAGACGGGGAGTGCTGGATTGGTTTACACTCCCTGTGAGCCAC GTGAAGGTGGACGGGGAGTGCTGGGTTGGTTTACACTCCCTCTGAGCAAT GCGAAGGTGGACGGGGAGGGCTGGGTTGATTTACATTCCCTGCGAACAAT GTGAAGGTGGACGAGGAGTGCTGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
GABBR2_chr9_98283109_98713935	98328029	T T	TGGGATCA others(343): Show TGGGATCAATATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT GGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCC CGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC C	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	164	0.0061	350	c.189 others(371): Show c.1894-16825_1894-16824insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAGAATATTGATCCC	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	13/18			chr9	TogoVar
GAL3ST2_chr2_241771822_241809287	241807653	C C	CTCCCCCC others(343): Show CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCTCCTCAGCCCAGGGACC TCCGCAGGCCACTCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCA CTCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACTCTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAAC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	314	0.0032	350	c.34 others(361): Show c.3487_*3488insTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCTC CTCAGCCCAGGGACCTCCGCAGGCCACTCTCCCTCCCCCCTCAACCCAGG GACCTCCGCAGGCCACTCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3367		chr2	TogoVar
GALP_chr19_56171008_56190775	56176046	C C	CTGCCAGC others(343): Show CTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGTCGG CTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGG ATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGTCGG CTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGG A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0223 a0001c0002t0026g0223	1	444	0.0023	350	c.-40 others(365): Show c.-40+274_-40+275insCAGGGTCGGCTGCCAGCTGCAGCGGGGTGA GAGCCTAGGCCAGGAGGGCACAGGGGCGGATGCCAGCTGCAGCGGGGTGA GAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCACCGGGGTGA GAGCCTAGGCCAGGAGGGCACAGGGTCGGCTGCCAGCTGCAGCGGGGTGA GAGCCTAGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCAGCGGGGTGA GAGCCTAGGCCAGGAGGGCACAGGGGCGGATGCCAGCTGCAGCGGGGTGA GAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCACCGGGGTGA GAGCCTAGGCCAGGAGGGCA	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GALP_chr19_56171008_56190775	56176108	C C	CCGGGGTG others(343): Show CCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCA GCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCA GCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGGATGCCAGCTGCA GCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCA CCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCA CCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCA CCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCA G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0301 a0001c0002t0013g0301	1	444	0.0023	350	c.-40 others(363): Show c.-40+74_-40+75insGAGGGGCGGATGCCAGCTGCAGCGGGGTGAGA GCCTAGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCAGCGGGGTGAGA GCCTAGGCCAGGAGGGCACAGGGGCGGATGCCAGCTGCAGCGGGGTGAGA GCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCACCGGGGTGAGA GCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCACCGGGGTGAGA GCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCACCGGGGTGAGA GCCTAGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCAGCGGGGTGAGA GCCTAGGCCAGGAGGGCA	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GALP_chr19_56171008_56190775	56176196	A A	ATGCCAGC others(343): Show ATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGG CTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG CTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGG C	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0313 a0001c0002t0001g0313	1	444	0.0023	350	c.-40 others(365): Show c.-40+183_-40+184insCTGCCAGCTGCAGCGGGGTGAGAGCCTAGG CCAGGAGGGCAGAGGGGCGGATCCCAGCTGCACCGGGGTGAGAGCCTAGG CCAGGAGGGCAGAGGGGCGGATCCCAGCTGCACCGGGGTGAGAGCCTAGG CCAGGAGGGCAGAGGGGCGGATCCCAGCTGCACCGGGGTGAGAGCCTAGG CCAGGAGGGCAGAGGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTAGG CCAGGAGGGCAGAGGGGCGGCTGCCAGCTGCAGCGGGGTGAGAGCCTAGG CCAGGAGGGCACAGGGGCGGCTGCCAGCTGCAGCGGGGTGAGAGCCTAGG CCAGGAGGGCACAGGGGCGG	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GFPT2_chr5_180295698_180358336	180300121	T T	TGGTGGAT others(343): Show TGGTGGATAACTGGAAATGTAGCTCCCAGGTTTCCAGCCCCTGTGATACA GGTGAGGGCATAGGACAGGATGGTGGATAACTGGAAATGTAGCTCCCAGG TTTCCAGCCCCTGTGATACAGGTGAGGGCATAGGACAGGATGGTGGATAA CTGGAAATGTAGCTCCCAGGTTTCCAGCCCCTGTGATACAGGTGAGGGCA TAGGACAGGATGGTGGATAACTGGAAATGTAGCTCCCAGGTTTCCAGCCC CTGTGATACAGGTGAGGGCATAGGACAGGATGGTGGATAACTGGAAATGT AGCTCCCAGGTTTCCAGCCCCTGTGATACAGGTGAGGGCATAGGACAGGA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00438.hp1 others(91): Show HG00140.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG01074.hp1 HG01175.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp2 HG01516.hp1 HG01943.hp1 HG01978.hp2 HG01993.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp2 HG02683.hp1 HG02738.hp2 HG02970.hp1 HG03017.hp2 HG03130.hp2 HG03225.hp1 HG03490.hp2 HG03492.hp2 HG03704.hp1 HG03710.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18951.hp2 NA18952.hp2 NA18957.hp1 NA18962.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18989.hp2 NA18994.hp1 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19065.hp1 NA19068.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19088.hp2 NA19091.hp2 NA20129.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0005 a0002c0002 a0004c0011 others(1): Show a0001c0005 a0002c0002 a0004c0011 a0006c0016	a0001c0005t0003 a0001c0005t0015 a0001c0005t0017 others(11): Show a0001c0005t0003 a0001c0005t0015 a0001c0005t0017 a0001c0005t0023 a0001c0005t0027 a0001c0005t0031 a0002c0002t0003 a0002c0002t0007 a0002c0002t0009 a0002c0002t0020 a0002c0002t0022 a0002c0002t0025 a0004c0011t0003 a0006c0016t0003	a0001c0005t0003g0107 a0001c0005t0003g0134 a0001c0005t0015g0321 others(87): Show a0001c0005t0003g0107 a0001c0005t0003g0134 a0001c0005t0015g0321 a0001c0005t0015g0366 a0001c0005t0017g0369 a0001c0005t0017g0371 a0001c0005t0023g0239 a0001c0005t0027g0270 a0001c0005t0031g0377 a0002c0002t0003g0002 a0002c0002t0003g0007 a0002c0002t0003g0053 a0002c0002t0003g0055 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0066 a0002c0002t0003g0067 a0002c0002t0003g0068 a0002c0002t0003g0069 a0002c0002t0003g0084 a0002c0002t0003g0087 a0002c0002t0003g0092 a0002c0002t0003g0093 a0002c0002t0003g0094 a0002c0002t0003g0095 a0002c0002t0003g0096 a0002c0002t0003g0097 a0002c0002t0003g0098 a0002c0002t0003g0099 a0002c0002t0003g0100 a0002c0002t0003g0101 a0002c0002t0003g0103 a0002c0002t0003g0104 a0002c0002t0003g0105 a0002c0002t0003g0106 a0002c0002t0003g0109 a0002c0002t0003g0111 a0002c0002t0003g0112 a0002c0002t0003g0115 a0002c0002t0003g0120 a0002c0002t0003g0121 a0002c0002t0003g0123 a0002c0002t0003g0133 a0002c0002t0003g0135 a0002c0002t0003g0136 a0002c0002t0003g0137 a0002c0002t0003g0139 a0002c0002t0003g0140 a0002c0002t0003g0141 a0002c0002t0003g0142 a0002c0002t0003g0144 a0002c0002t0003g0152 a0002c0002t0003g0154 a0002c0002t0003g0155 a0002c0002t0003g0158 a0002c0002t0003g0160 a0002c0002t0003g0161 a0002c0002t0003g0162 a0002c0002t0003g0166 a0002c0002t0003g0167 a0002c0002t0003g0203 a0002c0002t0003g0204 a0002c0002t0003g0210 a0002c0002t0003g0236 a0002c0002t0003g0244 a0002c0002t0003g0249 a0002c0002t0007g0022 a0002c0002t0007g0024 a0002c0002t0007g0025 a0002c0002t0007g0026 a0002c0002t0007g0030 a0002c0002t0007g0031 a0002c0002t0007g0035 a0002c0002t0007g0036 a0002c0002t0007g0037 a0002c0002t0007g0046 a0002c0002t0009g0255 a0002c0002t0009g0259 a0002c0002t0009g0263 a0002c0002t0009g0287 a0002c0002t0009g0295 a0002c0002t0009g0301 a0002c0002t0009g0304 a0002c0002t0009g0360 a0002c0002t0020g0019 a0002c0002t0022g0021 a0002c0002t0025g0251 a0004c0011t0003g0008 a0006c0016t0003g0063	94	412	0.2282	350	c.14 others(361): Show c.1442_*1443insTTCCTGTCCTATGCCCTCACCTGTATCACAGGGG CTGGAAACCTGGGAGCTACATTTCCAGTTATCCACCATCCTGTCCTATGC CCTCACCTGTATCACAGGGGCTGGAAACCTGGGAGCTACATTTCCAGTTA TCCACCATCCTGTCCTATGCCCTCACCTGTATCACAGGGGCTGGAAACCT GGGAGCTACATTTCCAGTTATCCACCATCCTGTCCTATGCCCTCACCTGT ATCACAGGGGCTGGAAACCTGGGAGCTACATTTCCAGTTATCCACCATCC TGTCCTATGCCCTCACCTGTATCACAGGGGCTGGAAACCTGGGAGCTACA TTTCCAGTTATCCACC	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		576		chr5	TogoVar
GGCX_chr2_85539720_85566493	85545712	T T	TAAAAACC others(343): Show TAAAAACCGCTAAAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0061 a0002c0002t0061	a0002c0002t0061g0074 a0002c0002t0061g0074	1	410	0.0024	350	c.42 others(361): Show c.4221_*4222insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGC GGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACC CGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC CCTTTTAGCGGTTTTT	GGCX	ENSG00000115486.13	transcript	ENST00000233838.9	protein_coding	15/15	4221		chr2	TogoVar
GHR_chr5_42418439_42726878	42719833	T T	TGTTGTTT others(343): Show TGTTGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAG TGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGC CACCTCGCCCGGCTAATTTTTTGTATTTTTTTTAGTAGAGACAGGGTTTC ACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0032 a0004c0004t0032	a0004c0004t0032g0004 a0004c0004t0032g0004	1	210	0.0048	350	c.41 others(359): Show c.419_*420insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTG GAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTT CACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCC CGCCACCTCGCCCGGCTAATTTTTTGTATTTTTTTTAGTAGAGACAGGGT TTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCGTTGTTTCTT	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	10/10	420	INFO_REALIGN_3_PRIME	chr5	TogoVar
GLB1L3_chr11_134271379_134324564	134308398	T T	TCACCACC others(343): Show TCACCACCACCACCACCACCACCACCACCAAATACCACCACCACCATGTC CACCACCACTACCACCACCATCACCATCACCATCACCATCATCACCATCA CCACTACCACCACCACCACCACCACCATCACCACCATCACCACCACTACC ACCACCACTATCACCATTATCACCACCATCACCACCACCACCACCACCAT CACCACCATCACCACCACCACCATCATCACCATCACCACCATCACCACCA CCACCACCACCACCACCACCACCAAATACCACCACCACCATGTCCACCAC CACTACCACCACCATCACCATCACCATCACCATCATCACCATCACCACTA C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0343 a0001c0001t0002g0343	1	422	0.0024	350	c.961 others(367): Show c.961+1195_961+1196insCCACCACCACCACCACCACCACCAAATA CCACCACCACCATGTCCACCACCACTACCACCACCATCACCATCACCATC ACCATCATCACCATCACCACTACCACCACCACCACCACCACCATCACCAC CATCACCACCACTACCACCACCACTATCACCATTATCACCACCATCACCA CCACCACCACCACCATCACCACCATCACCACCACCACCATCATCACCATC ACCACCATCACCACCACCACCACCACCACCACCACCACCAAATACCACCA CCACCATGTCCACCACCACTACCACCACCATCACCATCACCATCACCATC ATCACCATCACCACTACCACCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLE1_chr9_128499719_128547288	128545202	T T	TTTTTTTT others(343): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT ACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTT TTAGCCGGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCT C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	360	0.0028	350	c.40 others(361): Show c.4032_*4033insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCCATCTC	GLE1	ENSG00000119392.16	transcript	ENST00000309971.9	protein_coding		2915		chr9	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGAA others(343): Show GGGAGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGG GAGGGGAAGGGAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGG GAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGA GGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGGAAGGGAGG GAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGA GGGAGGGGAAGGGAGGGAGGGAGGGGGAGGGAGGGAGGGAGGGAAGGGAG GGAGGGAGGGGAAGGAAGGAAGGGAGGGAGGGGAAGGAAGGGAGGGAGGG A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0032 a0001c0001t0050g0032	1	188	0.0053	350	c.229 others(369): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCC CCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCC CTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCC CTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCTCC CTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTTCCC CTCCCTCCCTCCCTCCCTTCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GNA14_chr9_77418079_77653322	77475028	T T	TCCAGTGT others(343): Show TCCAGTGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTG GAGTGCAGTGGTGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCC GCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTC ACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0154 a0001c0001t0009g0154	1	240	0.0042	350	c.310 others(369): Show c.310-40507_310-40506insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAGAAACACTGG	GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	2/6			chr9	TogoVar
GOLGA3_chr12_132763914_132833869	132787706	C C	CCGGGACC others(343): Show CCGGGACCCCTCCCCGGAGACCACGGGACCCCTCCCCGGAGACCACGGGA CCCCTCCCCGGAGACCACGGGACCCCTCCCCGGAGACCCCGGGACCCCTC CCCACAGTCCCCAGACCCCTCCCCCAGAGCCCCCAGGACCCTTCCTGAGA CCCCGGGACCCCTCCCCAGAACCCCTGGGACCCCTCCCCGGAGACCCCGG GACCCCTCCCCGGAGACCACGGGACCCCTCCCCGGAGACCCCGGGACCCC TCCCCGGAGACCCCGGGACCCCTCCCCGGAGACCCCGGGACCCCTCCCCG GAGACCCCGGGACCCCTCCCCGGAGACCACGGGACCCCTCCCCGGAGACC A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02896.hp1 HG02818.hp2 HG02896.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0078 a0009c0015t0080 a0009c0015t0078 a0009c0015t0080	a0009c0015t0078g0066 a0009c0015t0080g0065 a0009c0015t0078g0066 a0009c0015t0080g0065	2	308	0.0065	350	c.281 others(367): Show c.2812-920_2812-919insTGGTCTCCGGGGAGGGGTCCCGTGGTCT CCGGGGAGGGGTCCCGGGGTCTCCGGGGAGGGGTCCCGGGGTCTCCGGGG AGGGGTCCCGGGGTCTCCGGGGAGGGGTCCCGGGGTCTCCGGGGAGGGGT CCCGTGGTCTCCGGGGAGGGGTCCCGGGGTCTCCGGGGAGGGGTCCCAGG GGTTCTGGGGAGGGGTCCCGGGGTCTCAGGAAGGGTCCTGGGGGCTCTGG GGGAGGGGTCTGGGGACTGTGGGGAGGGGTCCCGGGGTCTCCGGGGAGGG GTCCCGTGGTCTCCGGGGAGGGGTCCCGTGGTCTCCGGGGAGGGGTCCCG TGGTCTCCGGGGAGGGGTCCCG	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	13/23			chr12	TogoVar
GPALPP1_chr13_44984538_45035305	44995413	T T	TAAGAACT others(343): Show TAAGAACTTAGATGCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	348	0.0029	350	c.88+ others(365): Show c.88+5686_88+5687insGGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAGAACTTAGATGCT	GPALPP1	ENSG00000133114.18	transcript	ENST00000379151.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPIHBP1_chr8_143208218_143222170	143218114	A A	AACACCAC others(343): Show AACACCACCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACA CCACCCCCAACACCATCCCCAACACCACCCCAACACCACCCCCAACACCA TCCCCAACACCCCAATAACCCCCCAACACCACCCCAACACCACCCCCAAT ACCACCCCCACCACCCCCAACACCATCCCCAACACCACCCCAACACCACC CCCAATACCACCCCCACCACCCCCAACACCATCCCCCACACCACCCCCAA CACCACCCCCACACCGCCCACACACCAGCCCCAACACCACCCCCAACACC AGCCCCAACACCACCCCAATACCTCCCCAACACCACCCCCACACCACCCC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG03579.hp2 HG02257.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0002 a0001c0003t0008g0002	2	106	0.0189	350	c.25 others(361): Show c.2596_*2597insACACCACCCCAACACCACCCCCAACACCACCCCC AACACCACCCCAACACCACCCCCAACACCATCCCCAACACCACCCCAACA CCACCCCCAACACCATCCCCAACACCCCAATAACCCCCCAACACCACCCC AACACCACCCCCAATACCACCCCCACCACCCCCAACACCATCCCCAACAC CACCCCAACACCACCCCCAATACCACCCCCACCACCCCCAACACCATCCC CCACACCACCCCCAACACCACCCCCACACCGCCCACACACCAGCCCCAAC ACCACCCCCAACACCAGCCCCAACACCACCCCAATACCTCCCCAACACCA CCCCCACACCACCCCC	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		945		chr8	TogoVar
GRHL1_chr2_9946693_10007277	9998501	C C	CATATGTA others(343): Show CATATGTATATATATGTGTGTACATGTATATATATATACATATGTACATA TATATGTACACATATATATGTACATATATATGTACACATATATATATACA TATATATGTACACATATATATACATATATATGTACACATATATATACATA TATATGTACACATATATATACATATATATGTACACATATATATATACATA TATATGTACACATATATATACATATATATGTACACATATATATACATATA TATGTACACATATATATATACATATATATGTACACATATATATATACATA TATATGTACACATATATATATACATATATATGTACACATATATATATACA T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0020 a0004c0004t0020	a0004c0004t0020g0089 a0004c0004t0020g0089	1	418	0.0024	350	c.167 others(367): Show c.1678-460_1678-459insGTATATATATGTGTGTACATGTATATAT ATATACATATGTACATATATATGTACACATATATATGTACATATATATGT ACACATATATATATACATATATATGTACACATATATATACATATATATGT ACACATATATATACATATATATGTACACATATATATACATATATATGTAC ACATATATATATACATATATATGTACACATATATATACATATATATGTAC ACATATATATACATATATATGTACACATATATATATACATATATATGTAC ACATATATATATACATATATATGTACACATATATATATACATATATATGT ACACATATATATATACATATAT	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRTP1_chr13_113319163_113369130	113364444	A A	AGGAGGGG others(343): Show AGGAGGGGCAGGAGCGGGGGAGGGGCGGGGGAGGGCCGGGGGAGGGGCAG GGGAGCACCCAGGGCGGGGGAGGGGCGGGGCTGGGGGGGGGGGGGGCGGG AGGACTTGGGGAGAGAGGAGGGGCAGGAGCGGGGGAGGGGCAGGGGAGCA CCCAGGGCGGGGGAGGGGCGGGGCTGGGGCGGGGAGGACTTGGGGACAGA GGAGGGGCAGGAGCGGGGGAGGGGGAGGGGCAGGGGAGCACCCAGGGCGG GGGGAGGGGCGGGGCTGGGGGCGGGAGGACCTGGGGAGAGAGGAGGGGCG GGGGAGGGGGAGGGGAGAGAGGAGAGGGTGGGGGCGGGGCGGGGAATGGG C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	288	0.0035	350	c.-39 others(359): Show c.-394_-393insGCCCATTCCCCGCCCCGCCCCCACCCTCTCCTCTCT CCCCTCCCCCTCCCCCGCCCCTCCTCTCTCCCCAGGTCCTCCCGCCCCCA GCCCCGCCCCTCCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCTCCCC CGCTCCTGCCCCTCCTCTGTCCCCAAGTCCTCCCCGCCCCAGCCCCGCCC CTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCGCTCCTGCCCCTCCT CTCTCCCCAAGTCCTCCCGCCCCCCCCCCCCCCAGCCCCGCCCCTCCCCC GCCCTGGGTGCTCCCCTGCCCCTCCCCCGGCCCTCCCCCGCCCCTCCCCC GCTCCTGCCCCTCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding		315		chr13	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCTCCC others(343): Show CTCCTCCCCCCTCCTCCTCCCCCCTCCCACTCCTCCCCCCTCCTCCCCCC TCCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCC CCCCCCTCCTCCCCCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCT CCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCT CCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCC T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	290	0.0035	350	c.427 others(367): Show c.427-1062_427-1061insTCCTCCCCCCTCCTCCTCCCCCCTCCCA CTCCTCCCCCCTCCTCCCCCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCT CCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTC CTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTC CTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCT CCTCCCCCCTCCTCCTCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
GTF2H5_chr6_158163350_158204344	158169681	A A	ATATTGTA others(343): Show ATATTGTATATTATATAATATATTGTATATTATATAATATATAGTATATT ATATAATATATAGTATATTATATAATATATAGTATATTGTATATTATATA TAATATATTGTATATTATATATAATATATTGTATATTGTATATAATATAT TGTATATTGTATATAATATATTGTATATTGTATATAATATATTGTATATT GTATATAATATATTGTATATTATATATAATATATTGTATATTATATATAA TATATTGTATATTATATATAATATATTGTATATTATATATTATATATTGT ATATTATATATTATATAATATATTGTATATTATATATTATATAATATATT G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0099	a0001c0001t0099g0197 a0001c0001t0099g0197	1	384	0.0026	350	c.-34 others(365): Show c.-34-786_-34-785insTGTATATTATATAATATATTGTATATTATA TAATATATAGTATATTATATAATATATAGTATATTATATAATATATAGTA TATTGTATATTATATATAATATATTGTATATTATATATAATATATTGTAT ATTGTATATAATATATTGTATATTGTATATAATATATTGTATATTGTATA TAATATATTGTATATTGTATATAATATATTGTATATTATATATAATATAT TGTATATTATATATAATATATTGTATATTATATATAATATATTGTATATT ATATATTATATATTGTATATTATATATTATATAATATATTGTATATTATA TATTATATAATATATTGTAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
HAUS1_chr18_46099385_46133333	46112901	T T	TATATATA others(343): Show TATATATATAATATATATAATGTGTATATATATTCCATATTATATATATA ATATATATAATGTGTATATATATTCCATATTATATATAATATATATAATG TGTATATATATTCCATATTATATATAATATATATAATGTGTATATATATT CCATATTATATATAATATATATAATGTGTATATATATTCCATATTATATA TAATATATATAATGTGTATATATATTCCATATTATATATAATATATATAA TGTGTATATATATTCCATATTACATATATATAATATATATAATGTGTATA TATATTCCATATTATATATATAATATATATAATGTGTATATATTCCATAT A	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	372	0.0027	350	c.206 others(367): Show c.206-5250_206-5249insATTCCATATTATATATATAATATATATA ATGTGTATATATATTCCATATTATATATAATATATATAATGTGTATATAT ATTCCATATTATATATAATATATATAATGTGTATATATATTCCATATTAT ATATAATATATATAATGTGTATATATATTCCATATTATATATAATATATA TAATGTGTATATATATTCCATATTATATATAATATATATAATGTGTATAT ATATTCCATATTACATATATATAATATATATAATGTGTATATATATTCCA TATTATATATATAATATATATAATGTGTATATATTCCATATAATATATAT AATATATATAATGTGTATATAT	HAUS1	ENSG00000152240.13	transcript	ENST00000282058.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
HDAC4_chr2_239043168_239406020	239231772	T T	TGTCCTCC others(343): Show TGTCCTCCCCGAAGCGCCCCTGTCCTCAACCGAGGCTGCTGAGCACCTGC TCCCGGATGCCTGAGGTAGGCGTCCTCCCCGAAGCGCCCCTGTCCTCAAC CGAGGCTGCTGAGCACCTGCTCCCGGATGCCTGAGGTAGGTGTCCTCCCC GAAGCGCCCCTCTCCTCAATCGAGGCTGCTGAGCACCTGCTCCCGGATGC CTGAGGTAGGTGTCCTCCCCGAAGCGCCCCTCTCCTCAATCGAGGCTGCT GAGCACCTGCTCCCGGATGCCTGAGGTAGGCGTCCTCCCCGAAGCGCCCC TCTCCTCAACCGAGGCTGCTGAGCACCTGCTCCCGGATGCCTGAGGTAGG C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	242	0.0041	350	c.94+ others(365): Show c.94+4820_94+4821insGCCTACCTCAGGCATCCGGGAGCAGGTGCT CAGCAGCCTCGGTTGAGGAGAGGGGCGCTTCGGGGAGGACGCCTACCTCA GGCATCCGGGAGCAGGTGCTCAGCAGCCTCGATTGAGGAGAGGGGCGCTT CGGGGAGGACACCTACCTCAGGCATCCGGGAGCAGGTGCTCAGCAGCCTC GATTGAGGAGAGGGGCGCTTCGGGGAGGACACCTACCTCAGGCATCCGGG AGCAGGTGCTCAGCAGCCTCGGTTGAGGACAGGGGCGCTTCGGGGAGGAC GCCTACCTCAGGCATCCGGGAGCAGGTGCTCAGCAGCCTCGGTTGAGGAC AGGGGCGCTTCGGGGAGGAC	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	3/26			chr2	TogoVar
HIC1_chr17_2050103_2068241	2052377	T T	TGCCTGGG others(343): Show TGCCTGGGGCGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAG GGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCC TCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCT GGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGA GGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAG AAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGC TGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGG G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0001 a0001c0001t0008g0001	1	414	0.0024	350	c.-28 others(361): Show c.-2882_-2881insGCCTGGGGCGGGGCAGGGCTGTGAGACCCTCCCT TACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGC AGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGG TTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCA ATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGA GACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCT GGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTT GAGGAGGGGGTTAGGG	HIC1	ENSG00000177374.13	transcript	ENST00000619757.5	protein_coding		2725		chr17	TogoVar
IFNAR1_chr21_33319970_33364864	33322429	T T	TATATACA others(343): Show TATATACATGGAATATATACATGGAACATATACATGGAATATATACATGG AACATATATATATGGAACATATACGGAATATATATATGGAATATATATAC GGAATATATATATATATGGAATATATATACGGAATATATATATGGAATAT ATATACGGAATATATATATATGGAATATATATACGGAATATATATATGGA ATATATATACGGAATATATATATGGAATATATATATGGAATATGTATATG GAATATATATATATGGAATATATATATATGGAATATATATATATGGAATA TATATATATGGAATATATATATGGAATATATATATGGAATATATATATGG A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0184	1	323	0.0031	350	c.-26 others(361): Show c.-2627_-2626insATATACATGGAATATATACATGGAACATATACAT GGAATATATACATGGAACATATATATATGGAACATATACGGAATATATAT ATGGAATATATATACGGAATATATATATATATGGAATATATATACGGAAT ATATATATGGAATATATATACGGAATATATATATATGGAATATATATACG GAATATATATATGGAATATATATACGGAATATATATATGGAATATATATA TGGAATATGTATATGGAATATATATATATGGAATATATATATATGGAATA TATATATATGGAATATATATATATGGAATATATATATGGAATATATATAT GGAATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2540		chr21	TogoVar
IL18R1_chr2_102350796_102403776	102352768	T T	TATAATAT others(343): Show TATAATATATTTTATATATTATATATTATATATAATATAATATGTATTTT ATATATTATATTATATAAAATATAGTATATAATATATAATATAATATATA ATATATAATACAATATATAATATAATATATAATATAAAATATATAATATA ATATATAATATATAATATAATATATAATGTATAATATATAATATAATATA TAATGTATAATATATAATATATAATGTATAATATATAATATATATTATAT ATTATATATATTATATGTAATATATAATATATAATATATATTATATATTA TATATATTATATGTAATATATAATATATAATATATAATATATAATATATA A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0105 a0001c0002t0004g0105	1	366	0.0027	350	c.-36 others(361): Show c.-3661_-3660insATAATATATTTTATATATTATATATTATATATAA TATAATATGTATTTTATATATTATATTATATAAAATATAGTATATAATAT ATAATATAATATATAATATATAATACAATATATAATATAATATATAATAT AAAATATATAATATAATATATAATATATAATATAATATATAATGTATAAT ATATAATATAATATATAATGTATAATATATAATATATAATGTATAATATA TAATATATATTATATATTATATATATTATATGTAATATATAATATATAAT ATATATTATATATTATATATATTATATGTAATATATAATATATAATATAT AATATATAATATATAA	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		3027		chr2	TogoVar
IL1RL1_chr2_102306563_102357037	102352768	T T	TATAATAT others(343): Show TATAATATATTTTATATATTATATATTATATATAATATAATATGTATTTT ATATATTATATTATATAAAATATAGTATATAATATATAATATAATATATA ATATATAATACAATATATAATATAATATATAATATAAAATATATAATATA ATATATAATATATAATATAATATATAATGTATAATATATAATATAATATA TAATGTATAATATATAATATATAATGTATAATATATAATATATATTATAT ATTATATATATTATATGTAATATATAATATATAATATATATTATATATTA TATATATTATATGTAATATATAATATATAATATATAATATATAATATATA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	348	0.0029	350	c.84 others(359): Show c.847_*848insATAATATATTTTATATATTATATATTATATATAATA TAATATGTATTTTATATATTATATTATATAAAATATAGTATATAATATAT AATATAATATATAATATATAATACAATATATAATATAATATATAATATAA AATATATAATATAATATATAATATATAATATAATATATAATGTATAATAT ATAATATAATATATAATGTATAATATATAATATATAATGTATAATATATA ATATATATTATATATTATATATATTATATGTAATATATAATATATAATAT ATATTATATATTATATATATTATATGTAATATATAATATATAATATATAA TATATAATATATAA	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding		732		chr2	TogoVar
INO80_chr15_40973880_41121280	41031612	A A	AGGGAGGG others(343): Show AGGGAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAG GGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAG GAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGA GGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGG GAGGAAGGGAGGGACGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGG GAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAA G	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	282	0.0036	350	c.290 others(369): Show c.2908-3877_2908-3876insCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCGTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCCTCCCT TCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCT CCCTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCC TTCCTCCCTCCCTTCCTCCCTCCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
IPO11_chr5_62407763_62633582	62561275	T T	TAAAATTT others(343): Show TAAAATTTGTTTCTTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02965.hp2 HG01167.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0176 a0001c0002t0001g0233 a0001c0002t0001g0176 a0001c0002t0001g0233	2	330	0.0061	350	c.258 others(365): Show c.2582+34_2582+35insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAATTTGTTTCTTTC	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	27/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITGA3_chr17_50051110_50095481	50086190	T T	TTATATAT others(343): Show TTATATATATTATACATGTATAATATATATATTAGATTATATATATTATA CATGTATAATATATATATTAGATTATATATATTATACATGTATAATATAT ATTAGATTATATATATTATACATGTATAATATATATATTAGATTATATAT ATTATACATGTATAATATATATTAGATTATATATATTATACATGTATAAT ATATATTAGATTATATATATTATACATGTATAATATATATTAGATTATAT ATATTATACATGTATAATATATATTAGATTATATATATTATACATGTATA ATATATATATTAGATTATATATATTATACATGTATAATATATATTAGATT A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03453.hp2 HG02559.hp2 HG03453.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0008 a0001c0010t0008	a0001c0010t0008g0352 a0001c0010t0008g0353 a0001c0010t0008g0352 a0001c0010t0008g0353	2	402	0.0050	350	c.292 others(369): Show c.2920-1547_2920-1546insATTATACATGTATAATATATATATTA GATTATATATATTATACATGTATAATATATATATTAGATTATATATATTA TACATGTATAATATATATTAGATTATATATATTATACATGTATAATATAT ATATTAGATTATATATATTATACATGTATAATATATATTAGATTATATAT ATTATACATGTATAATATATATTAGATTATATATATTATACATGTATAAT ATATATTAGATTATATATATTATACATGTATAATATATATTAGATTATAT ATATTATACATGTATAATATATATATTAGATTATATATATTATACATGTA TAATATATATTAGATTATATATAT	ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25		INFO_REALIGN_3_PRIME	chr17	TogoVar
ITPR2_chr12_26330352_26838194	26478989	T T	TAAAGATA others(343): Show TAAAGATAATTTATTATTTAAAGTGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGAT CGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAAAAAATTAGCCGGGCTCGGTGGCGGGCGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGC AGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0127 a0001c0001t0010g0127	1	142	0.0070	350	c.612 others(369): Show c.6124-1983_6124-1982insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGAC TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCC ACCGAGCCCGGCTAATTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CACTTTAAATAATAAATTATCTTT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	43/56			chr12	TogoVar
JAK1_chr1_64828229_64971549	64881262	T T	TAAAAAAT others(343): Show TAAAAAATATTAAAATTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTG AGATCGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18975.hp1 NA19066.hp2 NA18941.hp1 NA18975.hp1 NA19066.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0017 a0001c0003t0001g0239 a0001c0003t0001g0246 a0001c0003t0001g0017 a0001c0003t0001g0239 a0001c0003t0001g0246	3	326	0.0092	350	c.205 others(367): Show c.205+2014_205+2015insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAC TGCGGACTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCAAAATTTTAATATTTTTT	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	3/24			chr1	TogoVar
KCNH5_chr14_62694464_63050458	62759565	T T	TAGGGTAT others(343): Show TAGGGTATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGCCTGGAGG GCAGTGGCGCGATCTCCGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCA CCACGCCCGGCTAATTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCATATTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCGCCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC C	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0205 a0001c0001t0003g0205	1	224	0.0045	350	c.201 others(371): Show c.2019+20162_2019+20163insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGA GATCAAGACCATCCTGGCTAATATGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCGGAGCT TGCAGTGAGCGGAGATCGCGCCACTGCCCTCCAGGCTGGGTGACAGAGCA AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAATATACCCT	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	10/10			chr14	TogoVar
KCNIP4_chr4_20723606_21953772	21346215	T T	TTATATAT others(343): Show TTATATATAATTCTATATATATAATATATATTATATATATAATTCTATAT ATATAATATATATTATATATAATTCTATATATATAATATATATTATATAT ATAATTCTATATATATAATATATATTATATATATAATTCTATATATATAA TATATATTATATATATAATTCTATATATATAATATATATTATATATATAA TTCTATATATATAATATATATTATATATATAATTCTATATATATAATATA TATTATATATATAATTCTATATATATAATATATATTATATATATAATTCT ATATATATAATATATATTATATATATAATTCTATATATATAATATATATT A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02698.hp2 NA18971.hp1 HG02257.hp1 HG02698.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0037 a0001c0001t0001g0051 a0001c0002t0001g0049 a0001c0001t0001g0037 a0001c0001t0001g0051 a0001c0002t0001g0049	3	80	0.0375	350	c.62- others(369): Show c.62-463507_62-463506insTAATATATATTATATATATAGAATTA TATATATAATATATATTATATATATAGAATTATATATATAATATATATTA TATATATAGAATTATATATATAATATATATTATATATATAGAATTATATA TATAATATATATTATATATATAGAATTATATATATAATATATATTATATA TATAGAATTATATATATAATATATATTATATATATAGAATTATATATATA ATATATATTATATATATAGAATTATATATATAATATATATTATATATATA GAATTATATATAATATATATTATATATATAGAATTATATATATAATATAT ATTATATATATAGAATTATATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21346215	T T	TTATATAT others(343): Show TTATATATAATTCTATATATATAATATATATTATATATATAATTCTATAT ATATAATATATATTATATATATAATTCTATATATATAATATATATTATAT ATATAATTCTATATATATAATATATATTATATATATAATTCTATATATAA TATATATTATATATATATAATTCTATATATAATATATATTATATATATAA TTCTATATATAATATATATTATATATATATAATTCTATATATATAATATA TATTATATATATAATTCTATATATATAATATATATTATATATATAATTCT ATATATATAATATATATTATATATATAATTCTATATATATAATATATATT A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	80	0.0125	350	c.62- others(369): Show c.62-463507_62-463506insTAATATATATTATATATATAGAATTA TATATATAATATATATTATATATATAGAATTATATATATAATATATATTA TATATATAGAATTATATATATAATATATATTATATATATAGAATTATATA TATATAATATATATTATATATAGAATTATATATATAATATATATTATATA TAGAATTATATATATATAATATATATTATATATAGAATTATATATATAAT ATATATTATATATATAGAATTATATATATAATATATATTATATATATAGA ATTATATATATAATATATATTATATATATAGAATTATATATATAATATAT ATTATATATATAGAATTATATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21346215	T T	TTATATAT others(343): Show TTATATATATAGAATTATATATATAATATATATTATATATATAATTCTAT ATATATAATATATATTATATATATAATTCTATATATATAATATATATTAT ATATATAATTCTATATATATAATATATATTATATATATAATTCTATATAT ATATTATATATTATATATATAATTATATATATAATATATATTATATATAT AGAATTCTATATATAATATATATTATATATATAATTCTATATATAATATA TATTATATATATAATTCTATATATATAATATATATTATATATATAATTCT ATATATATAATATATATTATATATATAATTCTATATATATAATATATATT A	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0078 a0001c0001t0006g0078	1	80	0.0125	350	c.62- others(369): Show c.62-463507_62-463506insTAATATATATTATATATATAGAATTA TATATATAATATATATTATATATATAGAATTATATATATAATATATATTA TATATATAGAATTATATATATAATATATATTATATATAGAATTATATATA TAATATATATTATATATAGAATTCTATATATATAATATATATTATATATA TAATTATATATATAATATATAATATATATATAGAATTATATATATAATAT ATATTATATATATAGAATTATATATATAATATATATTATATATATAGAAT TATATATATAATATATATTATATATATAGAATTATATATATAATATATAT TATATATATAATTCTATATATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar

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