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	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DGKI_chr7_137376037_137851974	137638574	A A	ATATGTAT others(167): Show ATATGTATATATATGTGTGTATATATATACACACATATATATGTATATAT ATGTGTGTATATATATACACACATATATGTATATATACACATATATACAT ATATGTATATATACACATATATACATATATGTATATATGTGTATATATAC ACATATATACATATATGTATATATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA19043.hp1 HG01243.hp1 NA19043.hp1	a0001 a0001	a0001c0008 a0001c0011 a0001c0008 a0001c0011	a0001c0008t0022 a0001c0011t0001 a0001c0008t0022 a0001c0011t0001	a0001c0008t0022g0026 a0001c0011t0001g0040 a0001c0008t0022g0026 a0001c0011t0001g0040	2	94	0.0213	174	c.804 others(191): Show c.804+6897_804+6898insCATATATACATATATGTATATATGTGTA TATATACACATATATACATATATGTATATATGTGTATATATACATATATG TATATATGTGTATATATACATATATGTGTGTATATATATACACACATATA TATACATATATATGTGTGTATATATATACACACATATATATACATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	6/32			chr7	TogoVar
DIDO1_chr20_62872743_62931505	62875266	C C	CCACCCCC others(167): Show CCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCCCACCCGCACCCCCACCCGCACCCCCACCCCCACCCTCACCCGCACCC TCACCCCCACCCTCACCCCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0045 a0001c0009t0001g0045	1	320	0.0031	174	c.39 others(185): Show c.3966_*3967insAGGGTGGGGGTGAGGGTGGGGGTGAGGGTGCGGG TGAGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGGGGGTGCGGGTG GGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2476		chr20	TogoVar
DIP2B_chr12_50499985_50753657	50593744	T T	TCCTCTCC others(167): Show TCCTCTCCTCTCCTCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCC TCCCCTCCCCTCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0043 a0001c0003t0002g0043	1	284	0.0035	174	c.101 others(193): Show c.101-32230_101-32229insTCTCCTCTCCTCTCCTCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCC CTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	429427	C C	CCCCCCCG others(167): Show CCCCCCCGGGCCCTGGCTGCCTCCCCCCCGGGCCCTGGCTGCCTCCCCCC CGGGCCCTGGCTGCCTCCCCCCCGGGCCCTGGCTGCCTCCCCCCCGGGCC CTGGCTGCCTCCCCCCCGGGCCCTGGCTGCCTCCCCCCCGGGCCCTGGCT GCCTCCCCCCGGACCCTGGCTGCCT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0021 a0001c0003t0002g0021	1	88	0.0114	174	c.395 others(191): Show c.395-6395_395-6394insAGGCAGCCAGGGTCCGGGGGGAGGCAGC CAGGGCCCGGGGGGGAGGCAGCCAGGGCCCGGGGGGGAGGCAGCCAGGGC CCGGGGGGGAGGCAGCCAGGGCCCGGGGGGGAGGCAGCCAGGGCCCGGGG GGGAGGCAGCCAGGGCCCGGGGGGGAGGCAGCCAGGGCCCGGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DIP2C_chr10_269201_694668	429427	C C	CCCCCCCG others(167): Show CCCCCCCGGGCCCTGGCTGCCTCCCCCCCGGGCCCTGGCTGCCTCCCCCC CGGGCCCTGGCTGCCTCCCCCCCGGGCCCTGGCTGCCTCCCCCCCGGGCC CTGGCTGCCTCCCCCCCGGGCCCTGGCTGCCTCCCCCCCGGGCCCTGGCT GCCTCCCCCCGGGCCCTGGCTGCCT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	88	0.0114	174	c.395 others(191): Show c.395-6395_395-6394insAGGCAGCCAGGGCCCGGGGGGAGGCAGC CAGGGCCCGGGGGGGAGGCAGCCAGGGCCCGGGGGGGAGGCAGCCAGGGC CCGGGGGGGAGGCAGCCAGGGCCCGGGGGGGAGGCAGCCAGGGCCCGGGG GGGAGGCAGCCAGGGCCCGGGGGGGAGGCAGCCAGGGCCCGGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DIP2C_chr10_269201_694668	478216	G G	GGGGAGGG others(167): Show GGGGAGGGGAGAAGAGAGGGGAGGGGAGAAGAAGGGAAGGGAGGGGAGGG GAGGGGAGAAGAAGGGAAGGGAGGGGAGGGGGAGAAGAAGGGAGGGGAGG GGAGGGGAGGGGAGAAGAAGGGAGGGAGGGGAGAAGAAGGGAGGGAGGGG AGGGGAGGGGAGAAGAAGGAGGGGA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0076 a0001c0007t0002g0076	1	88	0.0114	174	c.158 others(191): Show c.158-5668_158-5667insTCCCCTCCTTCTTCTCCCCTCCCCTCCC CTCCCTCCCTTCTTCTCCCCTCCCTCCCTTCTTCTCCCCTCCCCTCCCCT CCCCTCCCTTCTTCTCCCCCTCCCCTCCCTTCCCTTCTTCTCCCCTCCCC TCCCCTCCCTTCCCTTCTTCTCCCCTCCCCTCTCTTCTCCCCTCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	516743	G G	GGTGGGGG others(167): Show GGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACACGGGGTAGGGTGGG GGGGGACACGGGGTAGGGTGGGGGGGGACACGGGGTAGGGTGGGGGGGGA CACGGGGTAGGGTGGGGGGGGACACGGGGTAGGGTGGGGGGGGACACGGG GTAGGGTGGGGGGGGACAGGGGGTA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	88	0.0114	174	c.86- others(191): Show c.86-30214_86-30213insTACCCCCTGTCCCCCCCCACCCTACCCC GTGTCCCCCCCCACCCTACCCCGTGTCCCCCCCCACCCTACCCCGTGTCC CCCCCCACCCTACCCCGTGTCCCCCCCCACCCTACCCCGTGTCCCCCCCC ACCCTACCCCGTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCCAC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLG2_chr11_83450173_85632344	84214222	C C	CATATATA others(167): Show CATATATATATACATATATATATGAATACATATATATATACATATATATA TGAATACATATATATATACATATATATGAATACATATATATACATATATA TATGAATATATATATACATATATATGAATATATATATACATATATATGAA TATATATATACATATATATGAATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02717.hp1 HG02717.hp2 HG01884.hp1 HG02717.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0011g0013 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0011g0013	3	14	0.2143	174	c.573 others(193): Show c.573+37015_573+37016insATATTCATATATATGTATATATATAT TCATATATATGTATATATATATTCATATATATGTATATATATATTCATAT ATATATGTATATATATGTATTCATATATATGTATATATATATGTATTCAT ATATATATGTATATATATATGTATTCATATATATATGTATATATATAT	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	8/27			chr11	TogoVar
DMD_chrX_31114222_33216549	33009984	G G	GTGTGTAT others(167): Show GTGTGTATGTGTGTACACACATGTGTGTATATACACATGTGTGTATGTGT GTACACACATGTGTGTATATACACATGTGTGTGTGTACACACATGTGTGT ATATACACATGTGTGTGTACATGTGTGTATATACACATGTGTGTGTACAT GTGTATATACACATGTGTGTGTACA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0002 a0002c0009t0002g0002	1	126	0.0079	174	c.93+ others(191): Show c.93+10154_93+10155insTGTACACACACATGTGTATATACACATG TACACACACATGTGTATATACACACATGTACACACACATGTGTATATACA CACATGTGTGTACACACACACATGTGTATATACACACATGTGTGTACACA CATACACACATGTGTATATACACACATGTGTGTACACACATACACA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DNAH17_chr17_78418697_78582396	78541028	C C	CGGGGTGG others(167): Show CGGGGTGGGTGAGTGAGCGGGGTGGGGGGGGTGAGCGGGGTGGGGGGGTG AGCGGGGTGGGGGGGTGAGCGGGGTGGGGGGGTGAGCGGGGTGGGGGGGT GAGCGGGGTGGGGGGGGTGAGCGGGGTGGGGGGGTGAGCGGGGTGGGGGG GTGAGCGGGGTGGGGGGATGAGCAG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0017 a0017	a0017c0009 a0017c0009	a0017c0009t0001 a0017c0009t0001	a0017c0009t0001g0062 a0017c0009t0001g0062	1	252	0.0040	174	c.253 others(193): Show c.2533-1149_2533-1148insCTGCTCATCCCCCCACCCCGCTCACC CCCCCACCCCGCTCACCCCCCCACCCCGCTCACCCCCCCCACCCCGCTCA CCCCCCCACCCCGCTCACCCCCCCACCCCGCTCACCCCCCCACCCCGCTC ACCCCCCCACCCCGCTCACCCCCCCCACCCCGCTCACTCACCCACCCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78541054	T T	TGAGCGGG others(167): Show TGAGCGGGGTGGGGGGGTGAGCGGGGTGGGGGGGGTGAGCGGGGTGGGGG GGTGAGCGGGGTGGGGGGGTGAGCGGGGTGGGGGGGTGAGCGGGGTGGGG GGGTGAGCGGGGTGGGGGGGTGAGCGGGGTGGGGGGATGAGCAGGTGGGG GGGTGAGCGGGGTGGGGGGGTGAGC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0017 a0017	a0017c0009 a0017c0009	a0017c0009t0001 a0017c0009t0001	a0017c0009t0001g0061 a0017c0009t0001g0061	1	252	0.0040	174	c.253 others(193): Show c.2533-1175_2533-1174insGCTCACCCCCCCACCCCGCTCACCCC CCCACCTGCTCATCCCCCCACCCCGCTCACCCCCCCACCCCGCTCACCCC CCCACCCCGCTCACCCCCCCACCCCGCTCACCCCCCCACCCCGCTCACCC CCCCACCCCGCTCACCCCCCCCACCCCGCTCACCCCCCCACCCCGCTC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAI7_chr12_25103289_25200160	25174371	G G	GATATATA others(167): Show GATATATATATGATATATATATCCCATATATATGATATATATATGATATA TATATGATATATATGGGATATATATATCATATATATATGATATATATGGG ATATATATATCATATATATCATATATATGGGATATATATATCATATATAT CATATATATGGGATATATATATCAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	336	0.0030	174	c.22- others(191): Show c.22-13175_22-13174insATGATATATATATCCCATATATATGATA TATATGATATATATATCCCATATATATGATATATATGATATATATATCCC ATATATATCATATATATATGATATATATATCCCATATATATCATATATAT ATCATATATATATCATATATATGGGATATATATATCATATATATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DNER_chr2_229352629_229719555	229369248	A A	AAAAAAAA others(167): Show AAAAAAAAAGTTTTAACTTTCTAAAAAGTTAAAAAAAAGTTTTAACTTTC TAAAAAGTTAAAAAAAAGTTTTAACTTTCTAAAAAGTTAAAAAAAAGTTT TAACTTTCTAAAAAGTTAAAAAAAAGTTTTAACTTTCTAAAAAGTTAAAA AAAAGTTTTAACTTTCTAAAAAGTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp2 HG02559.hp2 HG02622.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0014 a0001c0002 a0005c0014	a0001c0002t0001 a0005c0014t0001 a0001c0002t0001 a0005c0014t0001	a0001c0002t0001g0159 a0005c0014t0001g0157 a0001c0002t0001g0159 a0005c0014t0001g0157	2	176	0.0114	174	c.185 others(193): Show c.1856-2303_1856-2130dupAACTTTTTAGAAAGTTAAAACTTTTT TTTAACTTTTTAGAAAGTTAAAACTTTTTTTTAACTTTTTAGAAAGTTAA AACTTTTTTTTAACTTTTTAGAAAGTTAAAACTTTTTTTTAACTTTTTAG AAAGTTAAAACTTTTTTTTAACTTTTTAGAAAGTTAAAACTTTTTTTT	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	11/12			chr2	TogoVar
DOCK8_chr9_209865_470255	400336	T T	TCCACCAC others(167): Show TCCACCACCAGCACTTCCACCATCACCACCTCCACCACCTCCACCACCAC CGTCACCACCTTCTCCACCACCACCATCTTCACCACCACCACCATCGCCC TGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAATATCACT ACCTCCTCCACCATCACCACCATCA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG02523.hp1 others(1): Show HG00558.hp2 HG00621.hp1 HG02523.hp1 HG03834.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0001 a0003c0004t0001 a0001c0002t0001 a0003c0004t0001	a0001c0002t0001g0043 a0001c0002t0001g0049 a0001c0002t0001g0221 others(1): Show a0001c0002t0001g0043 a0001c0002t0001g0049 a0001c0002t0001g0221 a0003c0004t0001g0141	4	256	0.0156	174	c.323 others(193): Show c.3234+1079_3234+1080insACCACCAGCACTTCCACCATCACCAC CTCCACCACCTCCACCACCACCGTCACCACCTTCTCCACCACCACCATCT TCACCACCACCACCATCGCCCTGCCCACCTCTAGCAATATTATCACCTTT CCTATCACCTCCAATATCACTACCTCCTCCACCATCACCACCATCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400895	T T	TCCACCAC others(167): Show TCCACCACCAGCACTTCCACCATCACCACCTCCACCACCTCCACCACCAC CGTCACCACCTTCTCCACCACCACCATCTTCACCACCACCACCATCGCCC TGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAATATCACT ACCTCCTCCACCATCACCACCACCA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	256	0.0039	174	c.323 others(193): Show c.3234+1638_3234+1639insACCACCAGCACTTCCACCATCACCAC CTCCACCACCTCCACCACCACCGTCACCACCTTCTCCACCACCACCATCT TCACCACCACCACCATCGCCCTGCCCACCTCTAGCAATATTATCACCTTT CCTATCACCTCCAATATCACTACCTCCTCCACCATCACCACCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400895	T T	TCCACCAC others(167): Show TCCACCACCAGCACTTCCACCATCACCACCTCCACCACCTCCACCACCAC CGTCACCACCTTCTCCACCACCACCATCTTCACCACCACCACCATCGCCC TGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAATATCACT ACCTCCTCCACCATCACCACCATCA	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA19010.hp1 HG00621.hp2 NA19010.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0160 a0003c0004t0001g0162 a0003c0004t0001g0160 a0003c0004t0001g0162	2	256	0.0078	174	c.323 others(193): Show c.3234+1638_3234+1639insACCACCAGCACTTCCACCATCACCAC CTCCACCACCTCCACCACCACCGTCACCACCTTCTCCACCACCACCATCT TCACCACCACCACCATCGCCCTGCCCACCTCTAGCAATATTATCACCTTT CCTATCACCTCCAATATCACTACCTCCTCCACCATCACCACCATCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400975	C C	CACCAGCA others(167): Show CACCAGCACTTCCACCATCACCACCTCCTTCACCATCACCATCACCACCA CCTCCACCACCACCACCACCTCCACCACCACCCTCACCACCTTCTCCACC ACCACCATCTTCACCATCACCACCATCGCCCTGCCCACCTCTAGCAATAT TATCACCTTTCCTATCACCTCCAAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0011 a0011	a0011c0157 a0011c0157	a0011c0157t0001 a0011c0157t0001	a0011c0157t0001g0150 a0011c0157t0001g0150	1	256	0.0039	174	c.323 others(193): Show c.3234+1717_3234+1718insCCAGCACTTCCACCATCACCACCTCC TTCACCATCACCATCACCACCACCTCCACCACCACCACCACCTCCACCAC CACCCTCACCACCTTCTCCACCACCACCATCTTCACCATCACCACCATCG CCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAATA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400975	C C	CACCAGCA others(167): Show CACCAGCACTTCCACCATCACCACGTCCTTCACCATCACCATCACCACCA CCTCCACCACCACCACCACCTCCACCACCCCCGTCACCACCTTCTCCACC ACCACCATCTTCACCATCACCACCATCGCCCTGCCCACCTCTAGCAATAT TATCACCTTTCCTATCACCTCCAAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0075 a0002c0075	a0002c0075t0003 a0002c0075t0003	a0002c0075t0003g0085 a0002c0075t0003g0085	1	256	0.0039	174	c.323 others(193): Show c.3234+1717_3234+1718insCCAGCACTTCCACCATCACCACGTCC TTCACCATCACCATCACCACCACCTCCACCACCACCACCACCTCCACCAC CCCCGTCACCACCTTCTCCACCACCACCATCTTCACCATCACCACCATCG CCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAATA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOK1_chr2_74549720_74562551	74561067	G G	GAGGAGGA others(167): Show GAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGGAGGA GGAGAAGGAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGG AGAAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGAAGGAGGAG GAGGAGGAGAAGGAGGAGGAGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03486.hp2 HG03098.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	334	0.0060	174	c.39 others(185): Show c.3953_*3954insAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGA GGAGGAGGAGGAGGAGGAGAAGGAGGAGGAGGAGGAGAAGGAGGAGGAGG AGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGAAGGAGGAGGAGGAGGAGAAGGAGGAGGAGGAGA	DOK1	ENSG00000115325.14	transcript	ENST00000233668.10	protein_coding		3517		chr2	TogoVar
DR1_chr1_93340907_93374493	93344857	T T	TTATATAT others(167): Show TTATATATATATAAATATATATTATATATATATAATATATATTATATATA TATAAATATATATTAATATATATAAATATATATTATATATATATAATATA TATAAATATATATTATATATATATAATATATATATATATATATAATATAT ATAAATATATATTATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	1	360	0.0028	174	c.-17 others(185): Show c.-1789_-1788insTATATATATATAAATATATATTATATATATATAA TATATATTATATATATATAAATATATATTAATATATATAAATATATATTA TATATATATAATATATATAAATATATATTATATATATATAATATATATAT ATATATATAATATATATAAATATATATTATATATATATAA	DR1	ENSG00000117505.13	transcript	ENST00000370272.9	protein_coding		1049		chr1	TogoVar
DUSP8_chr11_1549051_1577271	1551252	T T	TCCATCCA others(167): Show TCCATCCATCCACCCACCCCATTCATCCCTCTACCCATTCATCCATCTGC CCATCCATCCATCCGTCCACCCACCCGCCCACCCCACTCATCCCTCTACC CATTCATTCATCTGCCCATCCATCCATCCTCCACCCACCCACCCCACTCA TCCCTCTACCCATTCATCCATCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0116 a0001c0001t0026g0116	1	367	0.0027	174	c.52 others(185): Show c.5265_*5266insGCAGATGGATGAATGGGTAGAGGGATGAGTGGGG TGGGTGGGTGGAGGATGGATGGATGGGCAGATGAATGAATGGGTAGAGGG ATGAGTGGGGTGGGCGGGTGGGTGGACGGATGGATGGATGGGCAGATGGA TGAATGGGTAGAGGGATGAATGGGGTGGGTGGATGGATGG	DUSP8	ENSG00000184545.11	transcript	ENST00000397374.8	protein_coding		2798		chr11	TogoVar
EFCAB6_chr22_43523778_43817305	43784556	T T	TACACATA others(167): Show TACACATATATATGTATATATACACATATATGTGTATATATACACACATA TATATGTGTATATATACACATATATGTGTATATATACACACATATATATG TGTATATATACACATATATGTGTATATATACACACATATATATGTGTATA TATACACATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG01070.hp2 NA19087.hp1 HG01070.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0056 a0001c0001t0001g0024 a0001c0001t0001g0056	2	290	0.0069	174	c.-7- others(189): Show c.-7-2232_-7-2231insGTATATATACACATATATGTGTATATATAC ACATATATATGTGTGTATATATACACATATATGTGTATATATACACATAT ATATGTGTGTATATATACACATATATGTGTATATATACACATATATATGT GTGTATATATACACATATATGTGTATATATACATATATATGTGT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43784556	T T	TACACATA others(167): Show TACACATATATATGTATATATACACATATATGTGTATATATACACACATA TATATGTGTATATATACACATATATGTGTATATATACACACATATATGTG TGTATATATACACATATATGTGTATATATACACACATATATATGTGTATA TATACACATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02145.hp2 NA18963.hp1 others(1): Show HG00639.hp1 HG02145.hp2 NA18963.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 others(1): Show a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201	4	290	0.0138	174	c.-7- others(189): Show c.-7-2232_-7-2231insGTATATATACACATATATGTGTATATATAC ACATATATATGTGTGTATATATACACATATATGTGTATATATACACACAT ATATGTGTGTATATATACACATATATGTGTATATATACACATATATATGT GTGTATATATACACATATATGTGTATATATACATATATATGTGT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43784556	T T	TACACATA others(167): Show TACACATATATATGTATATATACACATATATGTGTATATATACACACATA TATATGTGTATATATACACATATATGTGTATATATACACACATATATGTG TGTATATATACACATATATGTGTATATATACACACATATATATGTGTATA TATACATATATGTGTGTATATATAC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	290	0.0035	174	c.-7- others(189): Show c.-7-2232_-7-2231insGTATATATACACACATATATGTATATATAC ACATATATATGTGTGTATATATACACATATATGTGTATATATACACACAT ATATGTGTGTATATATACACATATATGTGTATATATACACATATATATGT GTGTATATATACACATATATGTGTATATATACATATATATGTGT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31			chr22	TogoVar
EIF4G3_chr1_20801479_21181897	21179788	A A	ATATATTA others(167): Show ATATATTATATATAATATATTATATATATATTATATATTATATATTATAT ATAATATATTATATATATTATATAATATATATAATACATTATATATATTA TATAATATATATAATATATTATATATAATATAATATATTATATATATAAT ATAATATATAATATATATTTAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	312	0.0032	174	c.-35 others(185): Show c.-3523_-3522insATATTAAATATATATTATATATTATATTATATAT ATAATATATTATATTATATATAATATATTATATATATTATATAATATATA TAATGTATTATATATATTATATAATATATATAATATATTATATATAATAT ATAATATATAATATATATATAATATATTATATATAATATA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		2892		chr1	TogoVar
EML1_chr14_99788413_99947060	99927877	C C	CGGTGGTG others(167): Show CGGTGGTGGTGGGGGTGGGGGTGGGGGTGGTGGTGGTATTGGTGGTGGTG GTGATGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGGT GATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGAGGTGGT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0110 a0002c0001t0002g0110	1	288	0.0035	174	c.190 others(193): Show c.1909+7011_1909+7012insGGGTGGGGGTGGGGGTGGTGGTGGTA TTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGT GGTGATGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928009	T T	TGGTGGTG others(167): Show TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGAGG TGGTGGTGGTGGTGGAGGTGGTGGA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0025 a0002c0001t0002g0025	1	288	0.0035	174	c.190 others(193): Show c.1909+7163_1909+7164insATGGTGGTGGTGGTGGTGGTGGTGGA GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGG TGATGGTGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGAGGTGGTGGTG GTGGTGGAGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
ENOSF1_chr18_665318_717630	666963	A A	AGATGGTG others(167): Show AGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGTG ATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGTGATGGTGAT GGAGATGGTGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGG AGATGGTGATGGTGATGGAGATGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	418	0.0024	174	c.73 others(185): Show c.7341_*7342insACCATCTCCATCACCATCACCATCTCCATCACCA TCACCATCTCCATCACCATCACCATCACCATCACCATCTCCATCACCATC ACCATCACCATCTCCATCTCCATCACCATCACCATCTCCATCACCATCTC CATCTCCATCACCATCACCATCTCCATCACCATCACCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3354		chr18	TogoVar
ERC1_chr12_986223_1500931	1122642	T T	TATCTCTA others(167): Show TATCTCTATCTCTATCTGTGTCTATTGATATATCTGTATATATCTATCTA AATCTCTATCTCTATCTCTATCTGTGCCTATTGATATATCTGTATATATC TATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGCCTATT GATATATCTGTATATATCTATCTAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp2 HG01256.hp1 others(16): Show HG00323.hp1 HG00741.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG02129.hp1 HG02257.hp1 HG02280.hp1 HG02735.hp1 HG02735.hp2 HG03669.hp2 NA18966.hp1 NA19090.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 others(15): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0032 a0001c0001t0068 a0001c0001t0069 a0001c0001t0097 a0001c0001t0109 a0001c0001t0110 a0001c0001t0118 a0001c0001t0121 a0001c0001t0126 a0001c0003t0022 a0001c0003t0046 a0002c0002t0072 a0002c0002t0084	a0001c0001t0003g0035 a0001c0001t0007g0048 a0001c0001t0011g0020 others(16): Show a0001c0001t0003g0035 a0001c0001t0007g0048 a0001c0001t0011g0020 a0001c0001t0012g0022 a0001c0001t0015g0023 a0001c0001t0015g0038 a0001c0001t0032g0159 a0001c0001t0068g0083 a0001c0001t0069g0092 a0001c0001t0097g0031 a0001c0001t0109g0014 a0001c0001t0110g0013 a0001c0001t0118g0026 a0001c0001t0121g0011 a0001c0001t0126g0030 a0001c0003t0022g0114 a0001c0003t0046g0088 a0002c0002t0072g0145 a0002c0002t0084g0025	19	162	0.1173	174	c.156 others(193): Show c.1569+6625_1569+6626insGTGTCTATTGATATATCTGTATATAT CTATCTAAATCTCTATCTCTATCTCTATCTGTGCCTATTGATATATCTGT ATATATCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGT GCCTATTGATATATCTGTATATATCTATCTAAATCTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERP44_chr9_99974185_100104000	100100863	T T	TATATAGA others(167): Show TATATAGATAATATATGTATATATAATATATAGATAATATATGTATATAT AATATATAGATAATATATGTATATATAATATATAGATAATATATGTATAT ATAATATATATATAATATATGTATATATAATATATATTATATGTATATAT AATATATATTATATATGTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0071 a0001c0001t0013g0071	1	220	0.0046	174	c.-20 others(185): Show c.-2024_-2023insTATATATACATATATAATATATATTATATATACA TATAATATATATTATATATACATATATTATATATATATTATATATACATA TATTATCTATATATTATATATACATATATTATCTATATATTATATATACA TATATTATCTATATATTATATATACATATATTATCTATAT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding		1864		chr9	TogoVar
EXD3_chr9_137301896_137428162	137350437	T T	TCTAGATA others(167): Show TCTAGATAGAGAGGGGTGGGGATCACGGGGAAGGTTCTAGATAGAGAGGG GTGGGGATCACGGGGAAGGTGCTAGATAGAGAGGGGTGGGGATTACGGGG AGGGGTTAGATAGAGAGGGGTGGGGATCACGGGGAGGGTTCTAGATAGAG AGGGGTGGGGATCACAAGGAGGGGG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0026 a0026	a0026c0025 a0026c0025	a0026c0025t0001 a0026c0025t0001	a0026c0025t0001g0071 a0026c0025t0001g0071	1	82	0.0122	174	c.149 others(191): Show c.1494+600_1494+601insCCCCCTCCTTGTGATCCCCACCCCTCTC TATCTAGAACCCTCCCCGTGATCCCCACCCCTCTCTATCTAACCCCTCCC CGTAATCCCCACCCCTCTCTATCTAGCACCTTCCCCGTGATCCCCACCCC TCTCTATCTAGAACCTTCCCCGTGATCCCCACCCCTCTCTATCTAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	14/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137386769	C C	CTCCCTGC others(167): Show CTCCCTGCCTGCCTCCCTCAGCACCCCTGCTCCCTGCCTGGCCCCCTCAG CACCCCTGCTCCCTGCCTGGCCCCCTCAGCACCCCTGCTCCCTGCCTGCC TCCCTCAGCACCCCTGCTCCCTGCCTGCCTCCCTCAGCACCCCTGCTCCC TGCCTGGCCCCCTCAGCACCCCTGT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0014 a0014	a0014c0029 a0014c0029	a0014c0029t0001 a0014c0029t0001	a0014c0029t0001g0024 a0014c0029t0001g0024	1	82	0.0122	174	c.56- others(189): Show c.56-3393_56-3392insACAGGGGTGCTGAGGGGGCCAGGCAGGGAG CAGGGGTGCTGAGGGAGGCAGGCAGGGAGCAGGGGTGCTGAGGGAGGCAG GCAGGGAGCAGGGGTGCTGAGGGGGCCAGGCAGGGAGCAGGGGTGCTGAG GGGGCCAGGCAGGGAGCAGGGGTGCTGAGGGAGGCAGGCAGGGA	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	2/21			chr9	TogoVar
F7_chr13_113100791_113125685	113111321	G G	GCTCACGG others(167): Show GCTCACGGGTCACCTCACACTCCAAGATCACCTCAAAGAGGACACCTCAC ACAGGGCACACTTCACACTCACGGGTCACCTCACACTCACAGGACACCTC ACACTCACAGGGCACACTTCACACTCACGGGTCACCTCACACTCACAGGA CACCTCACACAGGGCACACTTCACA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0015 a0002c0010t0015	a0002c0010t0015g0097 a0002c0010t0015g0097	1	400	0.0025	174	c.225 others(189): Show c.225+542_225+543insGGGTCACCTCACACTCACAGGACACCTCAC ACTCACAGGGCACACTTCACACTCACGGGTCACCTCACACTCACAGGACA CCTCACACAGGGCACACTTCACACTCACGGGTCACCTCACACTCCAAGAT CACCTCAAAGAGGACACCTCACACAGGGCACACTTCACACTCAC	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
FAF2_chr5_176443385_176515074	176451819	T T	TATATACA others(167): Show TATATACATATATATATACACATATATATACATATATATATACACATATA TATATACATATATATATACACATATATATATACATATATATATACACATA TATATATACATATATATATACACATATATATATACATATATATATACACA TATATATATACATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	372	0.0027	174	c.63+ others(189): Show c.63+3354_63+3355insCATATATATATACACATATATATACATATA TATATACACATATATATATACATATATATATACACATATATATATACATA TATATATACACATATATATATACATATATATATACACATATATATATACA TATATATATACACATATATATATACATATATATATACACATATA	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAF2_chr5_176443385_176515074	176451819	T T	TATATACA others(167): Show TATATACATATATATATACACATATATATATACATATATATATACACATA TATATATACATATATATACACATATATATATACATATATATATACACATA TATATATACATATATATATACACATATATATATACATATATATATACACA TATATATATACATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	372	0.0027	174	c.63+ others(189): Show c.63+3354_63+3355insCATATATATATACACATATATATATACATA TATATATACACATATATATATACATATATATACACATATATATATACATA TATATATACACATATATATATACATATATATATACACATATATATATACA TATATATATACACATATATATATACATATATATATACACATATA	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAF2_chr5_176443385_176515074	176451819	T T	TATATACA others(167): Show TATATACATATATATATACACATATATATATACATATATATATACACATA TATATATACATATATATATACACATATATATACATATATATATACACATA TATATATACATATATATATACACATATATATATACATATATATATACACA TATATATATACATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02165.hp1 HG01070.hp2 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0130 a0001c0001t0001g0131	2	372	0.0054	174	c.63+ others(189): Show c.63+3354_63+3355insCATATATATATACACATATATATATACATA TATATATACACATATATATATACATATATATATACACATATATATACATA TATATATACACATATATATATACATATATATATACACATATATATATACA TATATATATACACATATATATATACATATATATATACACATATA	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAF2_chr5_176443385_176515074	176451821	T T	TATACATA others(167): Show TATACATATATATATACACATATATATATACATATATATATACACATATA TATATACATATATATATACACATATATATATACATATATATATACACATA TATATATACATATATATATACACATATATATATACATATATATATACACA TATATATATACATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp2 HG02040.hp1 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0030 a0001c0001t0016 a0001c0001t0030	a0001c0001t0016g0174 a0001c0001t0030g0145 a0001c0001t0016g0174 a0001c0001t0030g0145	2	372	0.0054	174	c.63+ others(189): Show c.63+3354_63+3355insCATATATATATACACATATATATATACATA TATATATACACATATATATATACATATATATATACACATATATATATACA TATATATATACACATATATATATACATATATATATACACATATATATATA CATATATATATACACATATATATATACATATATATATACACATA	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM167B_chr1_32242222_32253856	32249337	T T	TGATTTCA others(167): Show TGATTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACA GGTGGCCACCACCTCGCCTAGCTAATTTCCTTTCTTTTCTTTTCTTTTTT TTGAGATGGAATTTCACTCTTTCGCCCAGGCTGGAGTAGTGGCGCGATCT TGGCTCACTGCAACCTCCACCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	378	0.0027	174	c.73 others(183): Show c.736_*737insGATTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGATTACAGGTGGCCACCACCTCGCCTAGCTAATTTCCTTTCTTT TCTTTTCTTTTTTTTGAGATGGAATTTCACTCTTTCGCCCAGGCTGGAGT AGTGGCGCGATCTTGGCTCACTGCAACCTCCACCTTCC	FAM167B	ENSG00000183615.6	transcript	ENST00000373582.4	protein_coding		482		chr1	TogoVar
FAM210A_chr18_13658347_13731558	13675079	A A	ATTATTTC others(167): Show ATTATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCCGACTTCATTT CCAGTTTCCTGATTATTAACATTCCTGAGCCCTGGCTTCTTTTTTTCCAG TTTCCTGATTATTAACATTCCTGAGCCCCGACTTCATTTCCAGTTTCCTG ATTATTAACATTCCTGAGCCCCGAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02723.hp2 HG03239.hp1 HG02602.hp2 HG02723.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0241 a0001c0001t0001g0251 a0001c0001t0005g0284 a0001c0001t0001g0241 a0001c0001t0001g0251 a0001c0001t0005g0284	3	326	0.0092	174	c.474 others(191): Show c.474-3107_474-3106insGTCGGGGCTCAGGAATGTTAATAATCAG GAAACTGGAAATGAAGTCGGGGCTCAGGAATGTTAATAATCAGGAAACTG GAAAAAAAGAAGCCAGGGCTCAGGAATGTTAATAATCAGGAAACTGGAAA TGAAGTCGGGGCTCAGGAATGTTAATAATCAGGAAACTGGAAATAA	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FAM83B_chr6_54841771_54950099	54942715	A A	AGGCTGCT others(167): Show AGGCTGCTGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGGCACCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp1 NA18522.hp2 HG02630.hp1 NA18522.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0020 a0002c0004t0020	a0002c0004t0020g0107 a0002c0004t0020g0134 a0002c0004t0020g0107 a0002c0004t0020g0134	2	272	0.0074	174	c.72 others(183): Show c.723_*724insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCACCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGGCTGCTGATTTTTT	FAM83B	ENSG00000168143.9	transcript	ENST00000306858.8	protein_coding	5/5	724	INFO_REALIGN_3_PRIME	chr6	TogoVar
FIGN_chr2_163597611_163741008	163660808	T T	TATATGTA others(167): Show TATATGTATATACATATACATATATATGTATATACATATACATATATATG TATATACATATACATATATATGTATATACATATACATATATATACATATA CATATATATGTATATACATATACATATATATGTATATACATATACATATA TATACATATACATATATATGTATAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA20300.hp1 HG03486.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0028 a0001c0002t0007 a0001c0002t0028	a0001c0002t0007g0135 a0001c0002t0028g0134 a0001c0002t0007g0135 a0001c0002t0028g0134	2	266	0.0075	174	c.26- others(191): Show c.26-49003_26-49002insGTATACATATATATGTATATGTATATAT ATGTATATGTATATACATATATATGTATATGTATATACATATATATGTAT ATGTATATATATGTATATGTATATACATATATATGTATATGTATATACAT ATATATGTATATGTATATACATATATATGTATATGTATATACATAT	FIGN	ENSG00000182263.14	transcript	ENST00000333129.4	protein_coding	2/2			chr2	TogoVar
FLT3_chr13_27998274_28105576	27998863	T T	TATATTTA others(167): Show TATATTTATATACATATAAATATATATATTTATATACATATAAATATATA TATTTATATATAAATATATATATTTATATACATATAAATATATATATTTA TATATAAATATATATATTTATATACATATAAATATATATATTTATATATA AATATATATATTTATATACATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0165 a0002c0002t0001g0165	1	292	0.0034	174	c.51 others(185): Show c.5188_*5189insTTATATGTATATAAATATATATATTTATATATAA ATATATATATTTATATGTATATAAATATATATATTTATATATAAATATAT ATATTTATATGTATATAAATATATATATTTATATATAAATATATATATTT ATATGTATATAAATATATATATTTATATGTATATAAATAT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4410		chr13	TogoVar
FMO5_chr1_147181261_147230339	147191657	T T	TTCTTTTG others(167): Show TTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAA TTTTGGCTTTTGTTGCCATGGCTTTTGGTGTTTTAGACATGAAGTCCTTG CCCATGCCTATGTCCTGAATGGTATTGCCTAGGTTTTCTTCTAGGGTTTT TATGGTTTTAGGCCTAACATGTAAG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01099.hp1 HG01109.hp2 others(9): Show HG01074.hp2 HG01099.hp1 HG01109.hp2 HG02486.hp1 HG02717.hp1 HG03654.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 others(1): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007	a0001c0002t0003g0017 a0001c0002t0003g0025 a0001c0002t0003g0047 others(6): Show a0001c0002t0003g0017 a0001c0002t0003g0025 a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0053 a0001c0002t0004g0051 a0001c0002t0004g0052 a0001c0002t0006g0049 a0001c0002t0007g0050	12	406	0.0296	174	c.118 others(193): Show c.1184-1409_1184-1408insCTTACATGTTAGGCCTAAAACCATAA AAACCCTAGAAGAAAACCTAGGCAATACCATTCAGGACATAGGCATGGGC AAGGACTTCATGTCTAAAACACCAAAAGCCATGGCAACAAAAGCCAAAAT TGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGA	FMO5	ENSG00000131781.13	transcript	ENST00000254090.9	protein_coding	7/8			chr1	TogoVar
FOXN3_chr14_89151177_89422233	89361571	C C	CCACCACC others(167): Show CCACCACCACCTCCAGCACCACCACCACCACCACCACCTCCAGCACCACC TCCACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACTAC CACCTCCAGCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCA CCACCTCCACCACTACCACCTCCAG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0149 a0001c0001t0004g0149	1	230	0.0044	174	c.544 others(193): Show c.544-10764_544-10763insCTGGAGGTGGTAGTGGTGGAGGTGGT GGTGGAGGTGGTGCTGGAGGTGGTAGTGGTGGAGGTGGTGCTGGAGGTGG TAGTGGTGGAGGTGGTGCTGGAGGTGGTAGTGGTGGAGGTGGTGGTGGAG GTGGTGCTGGAGGTGGTGGTGGTGGTGGTGGTGCTGGAGGTGGTGGTG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361730	C C	CCACCTCC others(167): Show CCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCACC ACTACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCAC CTCCAGCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACTA CCACCTCCACCACTACCACCTCCAG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0200 a0001c0001t0027g0200	1	230	0.0044	174	c.544 others(193): Show c.544-10923_544-10922insCTGGAGGTGGTAGTGGTGGAGGTGGT AGTGGTGGAGGTGGTGCTGGAGGTGGTAGTGGTGGAGGTGGTGCTGGAGG TGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTGGTGGTGGAGGTGGTAGTG GTGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTAGTGGTGGAGGTG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXP1_chr3_70949708_71588728	71158079	C C	CGAAGGAA others(167): Show CGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAGGGAGGCAGGGAAGGA GGGAGGGAGGCAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGCAGG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0092 a0001c0001t0006g0092	1	96	0.0104	174	c.180 others(193): Show c.180+40122_180+40123insCCTGCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTGCCTCCCTCCCT CCTTCCCTGCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	6/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71158079	C C	CGAAGGAA others(167): Show CGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGG GAGGGAGGGAGGGAGGGAGGGAGGGAAGGAGGGAGGCAGGGAAGGAGGGA GGGAGGCAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGCAGGGAAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0056 a0001c0001t0004g0056	1	96	0.0104	174	c.180 others(193): Show c.180+40122_180+40123insCTTCCCTGCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTGCCTCCCT CCCTCCTTCCCTGCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	6/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71158105	A A	AAGGAAGG others(167): Show AAGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA AGGAGGGAGGCAGGGAAGGAGGGAGGGAGGCAGGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGCAGGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0003 a0001c0001t0039g0003	1	96	0.0104	174	c.180 others(193): Show c.180+40096_180+40097insCCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCCTGCCTCCCTCCCTCCTTCCCTGCCTCCCTCCTT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	6/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71158113	G G	GAGGAAGG others(167): Show GAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGA GGGAGGCAGGGAAGGAGGGAGGGAGGCAGGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGCAGGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01071.hp2 HG02109.hp2 others(3): Show HG00735.hp2 HG01071.hp2 HG02109.hp2 HG02486.hp2 HG04199.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0011 others(3): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0011 a0001c0001t0023 a0001c0001t0046 a0001c0001t0065	a0001c0001t0002g0080 a0001c0001t0010g0073 a0001c0001t0011g0001 others(3): Show a0001c0001t0002g0080 a0001c0001t0010g0073 a0001c0001t0011g0001 a0001c0001t0023g0045 a0001c0001t0046g0017 a0001c0001t0065g0035	6	96	0.0625	174	c.180 others(193): Show c.180+40088_180+40089insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCCTGCCTCCCTCCCTCCTTCCCTGCCTCCCT CCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	6/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71396922	A A	ATATATAT others(167): Show ATATATATACACACATATATATATGTATATATATATATACACACATATAT ATGTGTGTATATATATACACACATATATATGTGTGTATATATATACACAC ATATATATGTGTATATATATATACACATATATATATACACATATATATGT GTATATATATACACATATATATATG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0085 a0001c0001t0064g0085	1	96	0.0104	174	c.-16 others(195): Show c.-167-37679_-167-37678insCATATATATATGTGTATATATATA CACATATATATGTGTATATATATATGTGTATATATATATACACATATATA TGTGTGTATATATATACACACATATATATGTGTGTATATATATACACACA TATATATGTGTGTATATATATATATACATATATATATGTGTGTATATATA	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar

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