Joint Open Genome and Omics Platform (JoGo)

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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

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
FGFR4_chr5_177081915_177103144	177097042	C C	CCTCCTCT others(164): Show CCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTC CTCCTCCTCTCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTCTCCTC TCCTCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0006 a0006	a0006c0017 a0006c0017	a0006c0017t0001 a0006c0017t0001	a0006c0017t0001g0120 a0006c0017t0001g0120	1	372	0.0027	171	c.215 others(188): Show c.2154-245_2154-244insCTTCCTCCTCCTCCTCTTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCT CTTCCTCCTCCTCCTCCTCCTCCTCTCTCCTCCTCCTCCTCCTCTTCCTC CTCCTCCTCTCTCCTCTCCTCCTCCTCCTCCTCCTCCTCTCCT	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FLACC1_chr2_201283271_201362345	201324046	T T	TAAAAAAG others(164): Show TAAAAAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAAGCGGAGCTTGCGGTGAGCCGAGATTGCGCCACTGCAGTCCACA GTCCGGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0281 a0001c0001t0005g0281	1	370	0.0027	171	c.675 others(188): Show c.675+6423_675+6424insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCCGGACTGTGGA CTGCAGTGGCGCAATCTCGGCTCACCGCAAGCTCCGCTTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTTTTTT	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding	9/14			chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805963	T T	TCTGCAGG others(164): Show TCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA CCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGGACCTCGGCAGGCCACCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0039 a0003c0003t0001g0039	1	314	0.0032	171	c.17 others(182): Show c.1797_*1798insCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACGTCTGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCGGCAGGCCACCCTC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1677		chr2	TogoVar
GALR1_chr18_77244848_77282900	77252980	T T	TCACCACC others(164): Show TCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCATCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCATCA CCACCACCACCACCACCACCAC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0054 a0001c0001t0006g0054	1	366	0.0027	171	c.666 others(188): Show c.666+1774_666+1775insCCATCACCACCACCACCACCACCACCAC CACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCACCATCACCACCACCACCACCACCACCACCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GATD1_chr11_762222_782487	763299	T T	TCCCCGCC others(164): Show TCCCCGCCCTCACCCATCCCCGCCCTCACCGTCCCCGCCCTCACCGTCCC CGCCCTCACCCGCCCCCGCCCTCACCCATCCCCGCCCTCACCGTCCCCGC CCTCACCGTCCCCGCCCTCACCCATCCCCGCCCTCACCCATCCCCGCCCT CACCGCCCCCGCCCTCACCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02559.hp2 HG03139.hp2 HG01884.hp2 HG02559.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0006 a0001c0002t0003g0006	3	430	0.0070	171	c.75 others(182): Show c.7597_*7598insGCGGGTGAGGGCGGGGGCGGTGAGGGCGGGGATG GGTGAGGGCGGGGATGGGTGAGGGCGGGGACGGTGAGGGCGGGGACGGTG AGGGCGGGGATGGGTGAGGGCGGGGGCGGGTGAGGGCGGGGACGGTGAGG GCGGGGACGGTGAGGGCGGGGATGGGTGAGGGCGGGG	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		3922		chr11	TogoVar
GIPC1_chr19_14472762_14501127	14496074	G G	GCCGCCGC others(164): Show GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC CGCCGCCGCCGCCGCCGCCGCCGCCGCCTCCGCCTCCGCCTCCGCCTCCG CCGCCGCCTCCGCCGCCGCCGCCGCCTCCGCCTCCGCCTCCGCCTCCGCC GCCTCCGCCTCCGCCTCCGCCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0048 a0001c0003t0048	a0001c0003t0048g0343 a0001c0003t0048g0343	1	444	0.0023	171	c.-21 others(180): Show c.-213_-212insAGGCGGAGGCGGAGGCGGAGGCGGCGGAGGCGGAGG CGGAGGCGGAGGCGGCGGCGGCGGCGGAGGCGGCGGCGGAGGCGGAGGCG GAGGCGGAGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	1/9	13099		chr19	TogoVar
GLB1L3_chr11_134271379_134324564	134308475	T T	TACCACCA others(164): Show TACCACCACCACCACCATGTCCACCACCACTACCACCACCATCACCATCA CCACCACCACCACCATCACCATCACCATCATCACCATCACCTCCACCACC ACCACCACTATCACCACCATCACCATCACCACCATCACCACCATCACCAT CACCACCACCACCACCATCACC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0280 a0001c0002t0002g0280	1	422	0.0024	171	c.962 others(188): Show c.962-1138_962-1137insCCATGTCCACCACCACTACCACCACCAT CACCATCACCACCACCACCACCATCACCATCACCATCATCACCATCACCT CCACCACCACCACCACTATCACCACCATCACCATCACCACCATCACCACC ATCACCATCACCACCACCACCACCATCACCACCACCACCACCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLIS1_chr1_53501239_53744164	53556076	T T	TTGTGTGT others(164): Show TTGTGTGTGCAGGTGTACTGCAGGTGTGTGTGTGTATGCAGGTATACTGT AGGTTTGTGTGTGTGTGTGGTGTACTGCAGCTGTGTGTGTGTATGCAGGT GTACTGTAGGTTTGTGTGTGTGTGCAGGTGTATTGCAGGTGTGTGTGTAT GCAGGTGTACTGTAGGTGTGTG	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA19002.hp1 HG01192.hp1 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0037 a0001c0001 a0002c0037	a0001c0001t0001 a0002c0037t0001 a0001c0001t0001 a0002c0037t0001	a0001c0001t0001g0231 a0002c0037t0001g0069 a0001c0001t0001g0231 a0002c0037t0001g0069	2	236	0.0085	171	c.132 others(192): Show c.1321-26295_1321-26125dupCACACACCTACAGTACACCTGCAT ACACACACACCTGCAATACACCTGCACACACACACAAACCTACAGTACAC CTGCATACACACACACAGCTGCAGTACACCACACACACACACAAACCTAC AGTATACCTGCATACACACACACACCTGCAGTACACCTGCACACACA	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	4/10			chr1	TogoVar
GMEB2_chr20_63582605_63632101	63609069	C C	CCCCACCT others(164): Show CCCCACCTCCATTTCTAGAAACATGTCCCTCTGACCCACACCTCCATTTC TAGAAACATGCCCCTGTGACCCCACATCCATTTCTAGAAACATGCCCCTC TGACCCACACCTCCATTTCTAGAAACATGCCCCTCTGACCTCACCTCCAT TTCTAGAAACATGCCCCTCTGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18522.hp1 HG02109.hp2 NA18522.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0039 a0001c0007t0007g0040 a0001c0007t0007g0039 a0001c0007t0007g0040	2	330	0.0061	171	c.132 others(188): Show c.132-4230_132-4229insTCAGAGGGGCATGTTTCTAGAAATGGAG GTGAGGTCAGAGGGGCATGTTTCTAGAAATGGAGGTGTGGGTCAGAGGGG CATGTTTCTAGAAATGGATGTGGGGTCACAGGGGCATGTTTCTAGAAATG GAGGTGTGGGTCAGAGGGACATGTTTCTAGAAATGGAGGTGGG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63609202	T T	TCTGACCC others(164): Show TCTGACCCACACAACCATTTCTAGAAACATGTCCCTCTGACCCCACCTCC ATTTCCAGAAACATGCCCCTCTGACCCACACATCCATTTCTAGAAACATG CCCCTCTGACCCACACCTCCATTTCTAGAAACATGCCCCTCTGACCCCAC ATCCATTTCTAGAAACATGCCC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19080.hp1 NA19009.hp1 NA19080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0159 a0001c0003t0002g0160 a0001c0003t0002g0159 a0001c0003t0002g0160	2	330	0.0061	171	c.132 others(188): Show c.132-4363_132-4362insGGGCATGTTTCTAGAAATGGATGTGGGG TCAGAGGGGCATGTTTCTAGAAATGGAGGTGTGGGTCAGAGGGGCATGTT TCTAGAAATGGATGTGTGGGTCAGAGGGGCATGTTTCTGGAAATGGAGGT GGGGTCAGAGGGACATGTTTCTAGAAATGGTTGTGTGGGTCAG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63609202	T T	TCTGACCC others(164): Show TCTGACCCACACATCCATTTCTAGAAACATGTCCCTCTGACCCCACCTCC ATTTCCAGAAACATGCCCCTCTGACCCACACATCCATTTCTAGAAACATG CCCCTCTGACCCACACCTCCATTTCTAGAAACATGCCCCTCTGACCCCAC ATCCATTTCTAGAAACATGCCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG00735.hp1 others(36): Show HG00280.hp1 HG00597.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01074.hp2 HG01243.hp2 HG01261.hp2 HG01515.hp2 HG01516.hp2 HG01934.hp1 HG01978.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02132.hp2 HG03704.hp2 HG04204.hp2 NA18747.hp1 NA18747.hp2 NA18948.hp1 NA18952.hp2 NA18955.hp2 NA18967.hp1 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18994.hp2 NA18998.hp1 NA19054.hp1 NA19063.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19082.hp1 NA19087.hp1 NA19090.hp2 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0015 a0001c0003 a0001c0015	a0001c0003t0002 a0001c0003t0022 a0001c0003t0023 others(2): Show a0001c0003t0002 a0001c0003t0022 a0001c0003t0023 a0001c0003t0026 a0001c0015t0002	a0001c0003t0002g0001 a0001c0003t0002g0005 a0001c0003t0002g0025 others(31): Show a0001c0003t0002g0001 a0001c0003t0002g0005 a0001c0003t0002g0025 a0001c0003t0002g0026 a0001c0003t0002g0117 a0001c0003t0002g0126 a0001c0003t0002g0128 a0001c0003t0002g0130 a0001c0003t0002g0136 a0001c0003t0002g0138 a0001c0003t0002g0139 a0001c0003t0002g0143 a0001c0003t0002g0146 a0001c0003t0002g0149 a0001c0003t0002g0150 a0001c0003t0002g0155 a0001c0003t0002g0156 a0001c0003t0002g0157 a0001c0003t0002g0158 a0001c0003t0002g0164 a0001c0003t0002g0171 a0001c0003t0002g0178 a0001c0003t0002g0180 a0001c0003t0002g0181 a0001c0003t0002g0182 a0001c0003t0002g0188 a0001c0003t0002g0189 a0001c0003t0002g0190 a0001c0003t0002g0255 a0001c0003t0002g0263 a0001c0003t0022g0256 a0001c0003t0023g0162 a0001c0003t0026g0284 a0001c0015t0002g0173	39	330	0.1182	171	c.132 others(188): Show c.132-4363_132-4362insGGGCATGTTTCTAGAAATGGATGTGGGG TCAGAGGGGCATGTTTCTAGAAATGGAGGTGTGGGTCAGAGGGGCATGTT TCTAGAAATGGATGTGTGGGTCAGAGGGGCATGTTTCTGGAAATGGAGGT GGGGTCAGAGGGACATGTTTCTAGAAATGGATGTGTGGGTCAG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63609303	T T	TCCTCTGA others(164): Show TCCTCTGACCCCACCTCCATTTCTAGAAACATGCCCCTCTGACCCACACA TCCATTTCTAGAAACATGCCCCTCTGACCCACACCTCCATTTCTAGAAAC ATGCCCCTGACCCCACACATCCATTTCTAGAAACATGTCCCTCTGACCCA CCTCCATTTCCAGAAACATGCC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0176 a0001c0003t0002g0176	1	330	0.0030	171	c.132 others(188): Show c.132-4464_132-4463insGGCATGTTTCTGGAAATGGAGGTGGGTC AGAGGGACATGTTTCTAGAAATGGATGTGTGGGGTCAGGGGCATGTTTCT AGAAATGGAGGTGTGGGTCAGAGGGGCATGTTTCTAGAAATGGATGTGTG GGTCAGAGGGGCATGTTTCTAGAAATGGAGGTGGGGTCAGAGG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GNAQ_chr9_77711097_78036811	77894338	T T	TTATATAT others(164): Show TTATATATATTTAATAGAAAATATATAATATATATATTTAATAGAAAATA TATAATATATATTTAATAGAAAATATATATAATATATATATTTAATAGAA AAATATATATATTATATATATTTTAATATTAAATATATATAATATATATA TTTAATATTAAAATATATATAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03195.hp1 NA18962.hp2 others(1): Show HG01884.hp2 HG03195.hp1 NA18962.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0025 a0001c0001t0002 a0001c0001t0005 a0001c0001t0025	a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0005g0248 others(1): Show a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0005g0248 a0001c0001t0025g0051	4	282	0.0142	171	c.321 others(190): Show c.321+27822_321+27823insTTATATATATTTTAATATTAAATATA TATATTATATATATTTAATATTAAAATATATATAATATATATATTTTTCT ATTAAATATATATATTATATATATTTTCTATTAAATATATATTATATATT TTCTATTAAATATATATATTATATATTTTCTATTAAATATATATA	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6			chr9	TogoVar
GPR35_chr2_240620480_240638159	240623310	C C	TGCAAACA others(164): Show TGCAAACAGGTCGTGAGGGTGCAAACAGGTCGTGAGGGCGCAAACAGGTC GTGAGGGTGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGCGCAA ACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAG GGCGCAAACAGGTCGTGAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	400	0.0025	171	c.-22 others(182): Show c.-2264_-2263insTGCAAACAGGTCGTGAGGGTGCAAACAGGTCGTG AGGGCGCAAACAGGTCGTGAGGGTGCAAACAGGTCGTGAGGGCGCAAACA GGTCGTGAGGGCGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGC GCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGG	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding		2170		chr2	TogoVar
GPR35_chr2_240620480_240638159	240623348	C C	CGCAAACA others(164): Show CGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGTGCAAACAGGTC ATGAGGGCGCAAACAGGTCGTGAGGGTGCAAACAGGTCGTGAGGGCGCAA ACAGGTCGTGAGGGTGCAAACAGGTCATGAGGGCGCAAACAGGTCGTCAG GGTGCAAACAGGTCGTGAGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	400	0.0025	171	c.-22 others(182): Show c.-2225_-2224insGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGA GGGTGCAAACAGGTCATGAGGGCGCAAACAGGTCGTGAGGGTGCAAACAG GTCGTGAGGGCGCAAACAGGTCGTGAGGGTGCAAACAGGTCATGAGGGCG CAAACAGGTCGTCAGGGTGCAAACAGGTCGTGAGGGT	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding		2131		chr2	TogoVar
GPR35_chr2_240620480_240638159	240623433	G G	GTCGTGAG others(164): Show GTCGTGAGGGCGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGCG CAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGCGCAAACAGGTCGT GAGGGCGCAAACAGGTCATGAGGGTGCAAACAGGTCGTGAGGGCGCAAAC AGGTCGTGAGGGCGCAAACAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0014 a0014	a0014c0016 a0014c0016	a0014c0016t0004 a0014c0016t0004	a0014c0016t0004g0192 a0014c0016t0004g0192	1	400	0.0025	171	c.-21 others(182): Show c.-2140_-2139insTCGTGAGGGCGCAAACAGGTCGTGAGGGCGCAAA CAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGG GCGCAAACAGGTCGTGAGGGCGCAAACAGGTCATGAGGGTGCAAACAGGT CGTGAGGGCGCAAACAGGTCGTGAGGGCGCAAACAGA	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding		2046		chr2	TogoVar
GRAMD1B_chr11_123425269_123632767	123457117	A A	AGAAAGAA others(164): Show AGAAAGAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0243 a0001c0001t0066g0243	1	282	0.0036	171	c.375 others(190): Show c.375-23699_375-23698insGAAAGAAGAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAG	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	1/19			chr11	TogoVar
GRIN1_chr9_137134154_137173756	137145147	G G	GGTGAGAG others(164): Show GGTGAGAGGAAGGGGGTCCCAGGGTCCAGAAAGTGTCCCCAGAGGGGTGG GGACAGGAGTGAGAGGAAGGGGGTCCCAGGGTCCAGAAAGTGTCCCCAGA GGGGTGGGGACAGGAGTGAGAGGAAGGGGGTCCCAGGGTCCAGAAAGTGT CCCCAGAGGGGTGGGGACAGGA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0139 a0001c0003t0001g0139	1	298	0.0034	171	c.394 others(186): Show c.394-554_394-553insCAGAAAGTGTCCCCAGAGGGGTGGGGACAG GAGTGAGAGGAAGGGGGTCCCAGGGTCCAGAAAGTGTCCCCAGAGGGGTG GGGACAGGAGTGAGAGGAAGGGGGTCCCAGGGTCCAGAAAGTGTCCCCAG AGGGGTGGGGACAGGAGTGAGAGGAAGGGGGTCCCAGGGTC	GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
GRM5_chr11_88499642_89070982	88687530	A A	ACACACAT others(164): Show ACACACATATATATTATATATATATTATATATATATATTATATATATATT ATATATATATTATATATATATATTATATATATATTATATATATATATTAT ATATATATTATATATATATTATATATATATTATATATATATTATATATAT AATATATATATAATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03041.hp2 HG02818.hp1 HG03041.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0012 a0001c0003 a0004c0012	a0001c0003t0001 a0004c0012t0026 a0001c0003t0001 a0004c0012t0026	a0001c0003t0001g0089 a0004c0012t0026g0016 a0001c0003t0001g0089 a0004c0012t0026g0016	2	184	0.0109	171	c.912 others(190): Show c.912-34128_912-34127insATATATATATTATATATATATTATAT ATATAATATATATATAATATATATATAATATATATATAATATATATATAA TATATATATATAATATATATATAATATATATATATAATATATATATAATA TATATATAATATATATATATAATATATATATAATATATATGTGTG	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	3/9			chr11	TogoVar
GRM7_chr3_6856115_7746533	7103854	C C	CTCTGTCT others(164): Show CTCTGTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT CTCTCTGTCTCTCTCTCCCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0011 a0001c0014t0002g0011	1	80	0.0125	171	c.520 others(190): Show c.520-42595_520-42594insGTCTCTCTCTCTCTCTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTCTCTCTGTCTCTCTCTCCCTCTCTCTCTCT CTGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(164): Show CTCCCCCCTCCTCCCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCC CCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCC TCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCT CCCCCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0156 a0001c0001t0020g0156	1	290	0.0035	171	c.427 others(188): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCCCCTCCTCCCC CCTCCTCCCCCCTCCTCCCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(164): Show CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCC CCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCC CCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCC TCCTCCTCCTCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0278 a0001c0001t0002g0278	1	290	0.0035	171	c.427 others(188): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCTTCCCCCCTCCTCCCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTC CCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTC CTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
GTPBP4_chr10_983434_1024932	1010845	A A	ACTCTGGT others(164): Show ACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCT GACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATG CTGGGCCCCTTCATTCTCCTGCACCCCTCCATCCTGACTCTGCCTCCTGC ACCTCTTCCCTGTCCCGACACT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	370	0.0027	171	c.134 others(188): Show c.1344+327_1344+328insCTGGTGGAGATGCTGGGCCCCTTCATTC TCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCC CGAGACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCACCCCTCCA TCCTGACTCTGCCTCCTGCACCTCTTCCCTGTCCCGACACTCT	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP4_chr10_983434_1024932	1010845	A A	ACTCTGGT others(164): Show ACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCT GACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATG CTGGGCCCCTTCGTTATCCTGCACCCCTCCATCCTGACTCTGCCTCCTGC ACCTCTTCCCTGTCCCGACACT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0192 a0001c0002t0002g0192	1	370	0.0027	171	c.134 others(188): Show c.1344+327_1344+328insCTGGTGGAGATGCTGGGCCCCTTCATTC TCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCC CGAGACTCTGGTGGAGATGCTGGGCCCCTTCGTTATCCTGCACCCCTCCA TCCTGACTCTGCCTCCTGCACCTCTTCCCTGTCCCGACACTCT	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP4_chr10_983434_1024932	1010845	A A	ACTCTGGT others(164): Show ACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCT GACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATG CTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACTCTGCCTCCTGC ACCTCTTCCCTGTCCCGACACT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01168.hp2 HG01255.hp1 others(4): Show HG00642.hp1 HG01168.hp2 HG01255.hp1 HG01884.hp2 HG04199.hp1 NA18971.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0012 a0001c0001t0001 a0001c0002t0012	a0001c0001t0001g0176 a0001c0001t0001g0236 a0001c0001t0001g0237 others(4): Show a0001c0001t0001g0176 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0249 a0001c0001t0001g0266 a0001c0002t0012g0100	7	370	0.0189	171	c.134 others(188): Show c.1344+327_1344+328insCTGGTGGAGATGCTGGGCCCCTTCATTC TCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCC CGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCA TCCTGACTCTGCCTCCTGCACCTCTTCCCTGTCCCGACACTCT	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GYPE_chr4_143865864_143910559	143883550	T T	TTATAATT others(164): Show TTATAATTAATAATAACATGTAATTAATTATAAATTAATAATTAATAATA ACATGTAATTAATTATAAATTAATAATTAATAATAACATGTAATTAATTA TAAATTAATAATTAATAATAACATGTAATTAATTATAAATTAATAATTAA TAATAACATGTAATTAATTATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19075.hp1 HG02976.hp2 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0184 a0001c0001t0001g0089 a0001c0001t0001g0184	2	398	0.0050	171	c.38- others(186): Show c.38-3042_38-3041insTATAATTAATTACATGTTATTATTAATTAT TAATTTATAATTAATTACATGTTATTATTAATTATTAATTTATAATTAAT TACATGTTATTATTAATTATTAATTTATAATTAATTACATGTTATTATTA ATTATTAATTTATAATTAATTACATGTTATTATTAATTATA	GYPE	ENSG00000197465.14	transcript	ENST00000358615.9	protein_coding	1/3			chr4	TogoVar
HIVEP3_chr1_41501365_41923922	41544964	C C	CATCACTA others(164): Show CATCACTACTACCACCACCACCACCACCACCTCTACCACCACCATCACCA CCACCACCACTACCACCTCTACCACCACCATCACTACTACCACCACCACC ATCACCACCTCTACCACCACCATCACTACTACCACCACCACCACCACCAC CTCTACCACCACCATCACTACT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0070 a0005c0005t0070	a0005c0005t0070g0060 a0005c0005t0070g0060	1	134	0.0075	171	c.520 others(192): Show c.5208-20055_5208-20054insAGTAGTGATGGTGGTGGTAGAGGT GGTGGTGGTGGTGGTGGTAGTAGTGATGGTGGTGGTAGAGGTGGTGATGG TGGTGGTGGTAGTAGTGATGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTG GTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTGGTAGTAGTGAT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HMCN2_chr9_130260760_130439123	130277847	C C	CCACCACC others(164): Show CCACCACCACCACCATCATCATCACCACCACCACGATCATCACCACCACC ACCATCATCATCACCACCACCACGATCATCACCACCACCATCATCATTAC CACCACCACCACCACCATCATCATCACCACCACCACCACCATCATCATCA CCACCACCACCACCATCATCAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0152 a0152	a0152c0170 a0152c0170	a0152c0170t0002 a0152c0170t0002	a0152c0170t0002g0170 a0152c0170t0002g0170	1	258	0.0039	171	c.260 others(188): Show c.260-6733_260-6732insCCACCACCACGATCATCACCACCACCAC CATCATCATCACCACCACCACGATCATCACCACCACCATCATCATTACCA CCACCACCACCACCATCATCATCACCACCACCACCACCATCATCATCACC ACCACCACCACCATCATCATCACCACCACCACCATCATCATCA	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	1/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HPCAL1_chr2_10297904_10432604	10399217	C C	CCACCACC others(164): Show CCACCACCACCACCGCCGCTGCCGCTACCACCATCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCATCACCACCATCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCATCACCACCACCACCA CCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0141 a0001c0001t0003g0141	1	314	0.0032	171	c.-25 others(188): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCATCACCACCATCACC ACCACCACCACCACCACCACCATCACCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCACCATCACCACCACCACC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399220	C C	CCACCACC others(164): Show CCACCACCACCGCCGCTGCCGCTACCACCATCACCACCACCACCACCACC ACCACCATCACCACCACCACCATCACCATCATCACCACCACCACCATCAC CATCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA CCATCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0151 a0001c0001t0012g0151	1	314	0.0032	171	c.-25 others(188): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CCACCACCACCACCACCATCACCACCACCACCATCACCATCATCACCACC ACCACCATCACCATCATCACCACCACCACCACCACCACCATCACCACCAC CACCACCACCACCATCACCACCACCACCACCATCACCACCACC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HSF1_chr8_144286604_144319720	144313650	C C	CCGCCTCC others(164): Show CCGCCTCCCCGCGCCTCCCCGCCTCCCCGCACCGCCTCCCCGCACCGCCT CCCCGCCTCCCCGCACCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCGCGC CTCCCCGCCCCGCCTCCCCGCGCCTCCCCGCCTCCCCGCCCCGCCTCCCC GCCTCCCCGCACCGCCTCCCCG	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18984.hp2 NA19058.hp1 others(1): Show HG00438.hp1 NA18984.hp2 NA19058.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0213 a0001c0001t0001g0233 others(1): Show a0001c0001t0001g0180 a0001c0001t0001g0213 a0001c0001t0001g0233 a0001c0001t0001g0256	4	330	0.0121	171	c.124 others(186): Show c.1248+45_1248+46insGCCTCCCCGCCTCCCCGCACCGCCTCCCCG CACCGCCTCCCCGCCTCCCCGCACCGCCTCCCCGCCTCCCCGCCCCGCCT CCCCGCGCCTCCCCGCCCCGCCTCCCCGCGCCTCCCCGCCTCCCCGCCCC GCCTCCCCGCCTCCCCGCACCGCCTCCCCGCGCCTCCCCGC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
HSF1_chr8_144286604_144319720	144313723	G G	GCCCCGCC others(164): Show GCCCCGCCTCCCCGCGCCTCCCCGCGCCTCCCCGCCCCGCCTCCCCGCCT CCCCGCACCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGC CTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCC GCCTCCCCGCGCCGCGCCGCCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	330	0.0030	171	c.124 others(186): Show c.1249-99_1249-98insGCCTCCCCGCCCCGCCTCCCCGCCTCCCCG CACCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCC CGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTC CCCGCGCCGCGCCGCCTCCCCGCCTCCCCGCGCCTCCCCGC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
IFFO2_chr1_18899280_18961676	18925956	T T	TGGATGGA others(164): Show TGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATTGGATGGATTGGTTGGATGGATGGATGGAT GGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGTTGGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0043 a0001c0001t0024g0043	1	376	0.0027	171	c.666 others(188): Show c.666-4836_666-4835insTCCAACCATCCATCCATCCATCCATCCA TCCATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCAT CCATCCATCCAACCAATCCATCCAATCCATCCATCCATCCATCCATCCAT CCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCC	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFI44L_chr1_78615448_78651145	78643143	A A	AGAAAGCA others(164): Show AGAAAGCAAGAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18955.hp2 NA18959.hp2 NA18979.hp1 others(1): Show NA18955.hp2 NA18959.hp2 NA18979.hp1 NA19076.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0024	a0002c0002t0024g0001 a0002c0002t0024g0007 a0002c0002t0024g0001 a0002c0002t0024g0007	4	430	0.0093	171	c.13 others(182): Show c.1351_*1352insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCC GGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCCGAAAGCAAGAGTTTCTT	IFI44L	ENSG00000137959.17	transcript	ENST00000370751.10	protein_coding	9/9	1352	INFO_REALIGN_3_PRIME	chr1	TogoVar
IGF1_chr12_102390874_102485563	102441940	C C	CTTCTTCT others(164): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0341 a0001c0001t0026g0341	1	360	0.0028	171	c.221 others(190): Show c.221-22251_221-22250insAGAAGAAGAAGAAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
INS_chr11_2154779_2166209	2161677	A A	ACACCCCT others(164): Show ACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCC TGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCCTGTCCC CACACCCCTATCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCC TGTCCCCACACCCTGTCCCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	376	0.0027	171	c.-52 others(180): Show c.-528_-527insCTGGGGACAGGGTGTGGGGACAGGGGTGTGGGGACA GGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGGTGT GGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACA GGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTG	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		469		chr11	TogoVar
INS_chr11_2154779_2166209	2161706	C C	CCCCTGTC others(164): Show CCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTG TCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAC ACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTG TCCCCAGACCCCTGTCCCCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02896.hp1 HG02818.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	2	376	0.0053	171	c.-55 others(180): Show c.-557_-556insCCCGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGA CAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGT GTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGA CAGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGG	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		498		chr11	TogoVar
IPCEF1_chr6_154149496_154361803	154354447	C C	CACCACCT others(164): Show CACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCCACCA CCACCTCCACCATCTCCTCCACAACCACCTCCACCATCTCTACCGTCACT TCCACCATCACCTCTACCACTCCAATCACCATTTCTACCATCTCCATTAC CACCTCCACCATCGCCTCCACA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01346.hp2 HG01168.hp1 HG01169.hp1 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0013 a0001c0001t0005 a0001c0002t0013	a0001c0001t0005g0074 a0001c0002t0013g0075 a0001c0002t0013g0076 a0001c0001t0005g0074 a0001c0002t0013g0075 a0001c0002t0013g0076	3	264	0.0114	171	c.-62 others(188): Show c.-62+2224_-62+2225insTGTGGAGGCGATGGTGGAGGTGGTAATG GAGATGGTAGAAATGGTGATTGGAGTGGTAGAGGTGATGGTGGAAGTGAC GGTAGAGATGGTGGAGGTGGTTGTGGAGGAGATGGTGGAGGTGGTGGTGG AGGAGATGGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	1/11			chr6	TogoVar
IQGAP3_chr1_156520405_156577565	156557715	G G	GGATCAGC others(164): Show GGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGACCCCTCTGCCTGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCAGCCAG CCGCCCAGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG02572.hp1 others(2): Show HG02280.hp1 HG02451.hp1 HG02572.hp1 HG02717.hp1 HG02976.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0012 a0004c0005t0004 a0004c0005t0012	a0004c0005t0004g0029 a0004c0005t0004g0030 a0004c0005t0004g0031 others(2): Show a0004c0005t0004g0029 a0004c0005t0004g0030 a0004c0005t0004g0031 a0004c0005t0004g0032 a0004c0005t0012g0028	5	340	0.0147	171	c.113 others(190): Show c.1130-1023_1130-1022insACCTCCCTCCCGGACTGGGCGGCTGG CTGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCAGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATC	IQGAP3	ENSG00000183856.11	transcript	ENST00000361170.7	protein_coding	11/37			chr1	TogoVar
ITGAE_chr17_3709628_3806188	3788694	A A	ATTAAAAA others(164): Show ATTAAAAATAATTATTAAAATAATTATTTAAAAATAATAATTATTAAAAT AATTATTTAAAAATAATAATTATTAAAATAATTATTTAAAAATAATAATT ATTAAAATAATTATTTAAAAATAATAATTATTAAAATAATTATTTAAAAA TAATAATTATTAAAATAATTAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0027 a0027	a0027c0039 a0027c0039	a0027c0039t0001 a0027c0039t0001	a0027c0039t0001g0019 a0027c0039t0001g0019	1	302	0.0033	171	c.35- others(188): Show c.35-11035_35-11034insATAATTATTTTAATAATTATTATTTTTA AATAATTATTTTAATAATTATTATTTTTAAATAATTATTTTAATAATTAT TATTTTTAAATAATTATTTTAATAATTATTATTTTTAAATAATTATTTTA ATAATTATTATTTTTAAATAATTATTTTAATAATTATTTTTAA	ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding	1/30			chr17	TogoVar
ITGAE_chr17_3709628_3806188	3788778	T T	TTATTTAA others(164): Show TTATTTAAAATAATAATTATTAAAATAATTATTTAAAAATAATAATTATT AAAATAATTATTTAAAATAATAATTATTAAAATAATTATTTAAAAATAAT AATTATTAAAATAATTATTTAAAAATAATAATTATTAAAATAATTATTTA AAAATAATAATTATTAAAATAA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0262 a0003c0003t0001g0262	1	302	0.0033	171	c.35- others(188): Show c.35-11119_35-11118insTTATTTTAATAATTATTATTTTTAAATA ATTATTTTAATAATTATTATTTTTAAATAATTATTTTAATAATTATTATT TTTAAATAATTATTTTAATAATTATTATTTTAAATAATTATTTTAATAAT TATTATTTTTAAATAATTATTTTAATAATTATTATTTTAAATA	ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding	1/30			chr17	TogoVar
ITGAE_chr17_3709628_3806188	3788847	T T	TAATAATT others(164): Show TAATAATTATTAAAATAATTATTTAAAAATAATAATTATTAAAATAATTA TTTAAAAATAATAATTATTAAAATAATTATTTAAAAATAATAATTATTAA AATAATTATTTAAAAATAATAATTATTAAAATAATTATTTAAAAATAATA ATTATTAAAATAATTATTTAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01943.hp2 HG02486.hp1 others(2): Show HG00323.hp1 HG01943.hp2 HG02486.hp1 HG03486.hp1 NA19043.hp2	a0008 a0009 a0014 a0008 a0009 a0014	a0008c0009 a0008c0023 a0009c0008 others(1): Show a0008c0009 a0008c0023 a0009c0008 a0014c0040	a0008c0009t0001 a0008c0023t0001 a0009c0008t0001 others(1): Show a0008c0009t0001 a0008c0023t0001 a0009c0008t0001 a0014c0040t0001	a0008c0009t0001g0024 a0008c0009t0001g0155 a0008c0023t0001g0236 others(2): Show a0008c0009t0001g0024 a0008c0009t0001g0155 a0008c0023t0001g0236 a0009c0008t0001g0189 a0014c0040t0001g0194	5	302	0.0166	171	c.35- others(188): Show c.35-11188_35-11187insTTTAAATAATTATTTTAATAATTATTAT TTTTAAATAATTATTTTAATAATTATTATTTTTAAATAATTATTTTAATA ATTATTATTTTTAAATAATTATTTTAATAATTATTATTTTTAAATAATTA TTTTAATAATTATTATTTTTAAATAATTATTTTAATAATTATT	ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding	1/30			chr17	TogoVar
ITGB1BP1_chr2_9398475_9428528	9428157	T T	TGGCTAAT others(164): Show TGGCTAATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02895.hp1 HG03579.hp1 others(2): Show HG02886.hp2 HG02895.hp1 HG03579.hp1 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0176 a0001c0001t0177 others(2): Show a0001c0001t0084 a0001c0001t0176 a0001c0001t0177 a0001c0001t0182 a0001c0001t0230	a0001c0001t0084g0208 a0001c0001t0176g0204 a0001c0001t0177g0207 others(2): Show a0001c0001t0084g0208 a0001c0001t0176g0204 a0001c0001t0177g0207 a0001c0001t0182g0205 a0001c0001t0230g0210	5	276	0.0181	171	c.-48 others(182): Show c.-4821_-4820insGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAATTAGCC	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		4630		chr2	TogoVar
JAKMIP1_chr4_6021199_6205549	6067766	A A	AGCTCCAG others(164): Show AGCTCCAGGTTCACTCAAGCTCTTCTGCACACACACACACAGGTCACCCC CTGAGCTCCAGGTTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCT GAGCTCCACGTTCACTCAAGCTCTTCTGCACACGCAGGTCACCCCCCTGA GCTCCACGTTCACTCAAGCTCT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	233	0.0043	171	c.130 others(190): Show c.1303-2759_1303-2758insAGAGCTTGAGTGAACGTGGAGCTCAG GGGGGTGACCTGCGTGTGCAGAAGAGCTTGAGTGAACGTGGAGCTCAGGG GGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGG TGACCTGTGTGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGC	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar
JPH2_chr20_44101590_44192188	44134335	T T	TATTTATT others(164): Show TATTTATTAGAAATATATATAATATATATTTATTATATATATTATAAATA TATATTTATAATATATATAATATATATTTATAATATATATAATAAATATA TATTTATAATATATATAAATAAATATATATTTATAATAAATATATATAAA TATATATTTATTTATATAAATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18955.hp2 NA18978.hp1 others(1): Show HG02922.hp1 NA18955.hp2 NA18978.hp1 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0009 a0002c0002 a0002c0009	a0002c0002t0013 a0002c0002t0101 a0002c0009t0024 a0002c0002t0013 a0002c0002t0101 a0002c0009t0024	a0002c0002t0013g0140 a0002c0002t0013g0147 a0002c0002t0101g0254 others(1): Show a0002c0002t0013g0140 a0002c0002t0013g0147 a0002c0002t0101g0254 a0002c0009t0024g0065	4	338	0.0118	171	c.117 others(192): Show c.1170-15713_1170-15712insTATTTATATAAATAAATATATATT TATATATATTTATTATAAATATATATTTATTTATATATATTATAAATATA TATTTATTATATATATTATAAATATATATTATATATATTATAAATATATA TTTATAATATATATAATAAATATATATTATATATATTTCTAATAAAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KANK1_chr9_499695_751103	707442	A A	AGCTGCAG others(164): Show AGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAG GTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTG GAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAATTTCAGAC AGTCCTGGAGACAGGTCTGGCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0131 a0001c0001t0003g0132	2	254	0.0079	171	c.38- others(186): Show c.38-3222_38-3221insATTTCAGACAGTCCTGGAGACAGGTCTGGC TGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAG GTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTG GAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGA	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KANK1_chr9_499695_751103	707571	C C	CCTGTTAA others(164): Show CCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAG CTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCT GCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACATTCCTGGAGACAGG TCTGGCTGCTGCAGCTTCTCTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03516.hp2 HG02630.hp2 HG03516.hp2	a0006 a0006	a0006c0039 a0006c0040 a0006c0039 a0006c0040	a0006c0039t0007 a0006c0040t0001 a0006c0039t0007 a0006c0040t0001	a0006c0039t0007g0110 a0006c0040t0001g0062 a0006c0039t0007g0110 a0006c0040t0001g0062	2	254	0.0079	171	c.38- others(186): Show c.38-3212_38-3211insGTCCTGGAGACAGGTCTGGCTGCTGCAGCT TCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGC TGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACATTCCTGGAGACAGGTC TGGCTGCTGCAGCTTCTCTGCTGTTAATGGAGTTTCAGACA	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCMF1_chr2_84966161_85064472	85008255	T T	TTATATAT others(164): Show TTATATATCCTATTATAATATATAATATGATATATATTATATATCATATA TAATATATAATAGGATATATAATATATATCATATATAATATATAATAGGA TATATAATATATATCATATATAATATATGATATATAATATATATCATATA TAATATATAATATGATATATAA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0010 a0001c0001t0031g0010	1	274	0.0037	171	c.17- others(188): Show c.17-19626_17-19625insCTATTATAATATATAATATGATATATAT TATATATCATATATAATATATAATAGGATATATAATATATATCATATATA ATATATAATAGGATATATAATATATATCATATATAATATATGATATATAA TATATATCATATATAATATATAATATGATATATAATATATATC	KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNQ2_chr20_63395208_63477655	63442876	T T	TATCACCA others(164): Show TATCACCACCACCATCACCACCATCACCACCACCACCATCACCATCACCA CCACCATCACCACCATCACCATCACCACCATCACCATCACCATTACCACC ACCATTACCACCACCATCACCATCACCATCACCACCACCACCACCATCAC CACCACCATCACCATCACCATT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG01261.hp1 others(20): Show HG00140.hp1 HG00323.hp2 HG01261.hp1 HG01496.hp1 HG01517.hp1 HG01952.hp1 HG02015.hp2 HG02027.hp2 HG02080.hp2 HG02148.hp2 HG02293.hp1 NA18747.hp1 NA18939.hp1 NA18945.hp2 NA18962.hp1 NA18995.hp2 NA18999.hp2 NA19005.hp2 NA19012.hp1 NA19056.hp1 NA19065.hp2 NA19080.hp1 NA20752.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0004 a0001c0005 others(2): Show a0001c0002 a0001c0004 a0001c0005 a0002c0001 a0004c0023	a0001c0002t0002 a0001c0004t0004 a0001c0004t0110 others(9): Show a0001c0002t0002 a0001c0004t0004 a0001c0004t0110 a0001c0005t0011 a0001c0005t0030 a0001c0005t0041 a0001c0005t0045 a0001c0005t0046 a0001c0005t0048 a0002c0001t0001 a0002c0001t0032 a0004c0023t0011	a0001c0002t0002g0108 a0001c0002t0002g0158 a0001c0004t0004g0154 others(20): Show a0001c0002t0002g0108 a0001c0002t0002g0158 a0001c0004t0004g0154 a0001c0004t0110g0324 a0001c0005t0011g0109 a0001c0005t0011g0145 a0001c0005t0011g0152 a0001c0005t0011g0241 a0001c0005t0030g0156 a0001c0005t0030g0157 a0001c0005t0041g0010 a0001c0005t0045g0143 a0001c0005t0046g0142 a0001c0005t0048g0144 a0002c0001t0001g0146 a0002c0001t0001g0148 a0002c0001t0001g0149 a0002c0001t0001g0150 a0002c0001t0001g0151 a0002c0001t0001g0250 a0002c0001t0032g0147 a0002c0001t0032g0252 a0004c0023t0011g0251	23	330	0.0697	171	c.691 others(186): Show c.691-346_691-345insAATGGTGATGGTGATGGTGGTGGTGATGGT GGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTAATGGTGGTGGTAA TGGTGATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGGTGGTGATG GTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGAT	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KDM4B_chr19_4964113_5158598	5131555	A A	AGCGGGGG others(164): Show AGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGGGGCACAGGGGAGCTGGT GGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGAGCGGGGG AGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAG GTGGGGCACAGGGGAGCTGGTG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02683.hp2 HG01081.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0074 a0001c0001t0003g0266 a0001c0001t0003g0074 a0001c0001t0003g0266	2	270	0.0074	171	c.178 others(186): Show c.1785+44_1785+45insCACAGGGGAGCTGGTGGCGGGGGAGGGGGG CAGGGAGGAGGGGGGCAGGTGGGGTGGAGCGGGGGAGGCAGGGAGGAGGG GGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGA GCTGGTGGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar

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