Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

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
GLT6D1_chr9_135618648_135644540	135620041	C C	CCCCTTCT others(233): Show CCCCTTCTCCCCCTACTCCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCAG TCTCCCCCATCTCCCCCTACTCCCCCTTCTCCCCCTACTCCTTCTCCCCC TTCTCCCCCTTCCCCCTCTACTCCCCCTTCTCCCCCTTTTCCCCCTACTC CCCCGTCTCCCCCATCTCCCCCTTTTCCCCCTACTCCCCCTTCTCCCCCA TCTCCCCCGTCTCTCCCGTCTCCCCCATCTCCCCCTTCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0027 a0002c0007t0003g0027	1	436	0.0023	240	c.40 others(251): Show c.4055_*4056insTGAGAAGGGGGAGATGGGGGAGACGGGAGAGACG GGGGAGATGGGGGAGAAGGGGGAGTAGGGGGAAAAGGGGGAGATGGGGGA GACGGGGGAGTAGGGGGAAAAGGGGGAGAAGGGGGAGTAGAGGGGGAAGG GGGAGAAGGGGGAGAAGGAGTAGGGGGAGAAGGGGGAGTAGGGGGAGATG GGGGAGACTGGGCAGACAGGGGAGACGGGGGAGAAGGGGGAGTAGGGGGA GAAGGG	GLT6D1	ENSG00000204007.8	transcript	ENST00000371763.6	protein_coding		3606		chr9	TogoVar
GMDS_chr6_1618806_2250605	1652636	T T	TATATTAT others(233): Show TATATTATATATATTATATATAATATATATCATTTATATATAATATATTA TATATATTATATATAATATATATCATTTATATATAATATATTATATATAT TATATATAATATATATCATTTATATATAATATATAATATATATTATATAT AATATATATCATTTATATATAATATATAATATATATTATATATAATATAT ATCATTTATATATAATATATAATATATATTATTTATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp1 HG02922.hp1 others(2): Show HG02258.hp2 HG02572.hp1 HG02922.hp1 HG02970.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0018 a0001c0001t0001g0042 a0001c0001t0001g0070 others(2): Show a0001c0001t0001g0018 a0001c0001t0001g0042 a0001c0001t0001g0070 a0001c0001t0002g0083 a0001c0002t0001g0075	5	166	0.0301	240	c.988 others(259): Show c.988-28097_988-28096insTATATATAAATAATATATATTATATA TTATATATAAATGATATATATTATATATAATATATATTATATATTATATA TAAATGATATATATTATATATAATATATATTATATATTATATATAAATGA TATATATTATATATAATATATATAATATATTATATATAAATGATATATAT TATATATAATATATATAATATATTATATATAAATGATATATATTATATAT AATATATATAATAT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	9/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2230018	T T	TCCCTCCA others(233): Show TCCCTCCAGAGTCCACAGTTGCGAGACTCCTCTGAAGACCCCTATCCAGA GTCCACAGTTGCGAGACTCCTCTGAAGACCCCCCTCCAGAGTCCACAGTT GCGAGACTCCTCTGAAGACCCCTATCCAGAGTCCACAGTTGCGAGACTCC TCTGAAGACCCCCCTCCAGAGTCCACAGTTGCGAGACTCCTCTGAAGACC CCTATCCAGAGTCCACAGTTGCGAGACTCCTCTGAAGACCC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	166	0.0060	240	c.102 others(259): Show c.102+15302_102+15303insGGGTCTTCAGAGGAGTCTCGCAACTG TGGACTCTGGATAGGGGTCTTCAGAGGAGTCTCGCAACTGTGGACTCTGG AGGGGGGTCTTCAGAGGAGTCTCGCAACTGTGGACTCTGGATAGGGGTCT TCAGAGGAGTCTCGCAACTGTGGACTCTGGAGGGGGGTCTTCAGAGGAGT CTCGCAACTGTGGACTCTGGATAGGGGTCTTCAGAGGAGTCTCGCAACTG TGGACTCTGGAGGG	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	1/10			chr6	TogoVar
GMEB2_chr20_63582605_63632101	63607430	C C	CCTCTGAC others(233): Show CCTCTGACCCCACATCCATTTCTAGAAACATGCCCCTCTGATCCACCTCC ATTTCTAGAAACATGCCACTCTGACCCACACCTCCATTTCTAGAAACATG TCCCTCTGACCCCACATCCATTTCTAGAAACATGCCCCTCTGACCCACCT CCATTTCCAGAAACATGCCCCTCTGACCCACCTCCATTTCTAGAAACATG TCCCTCTGACCCCACACATCCATTTCTAGAAACATGTCCCT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0137 a0001c0003t0002g0137	1	330	0.0030	240	c.132 others(257): Show c.132-2591_132-2590insAGGGACATGTTTCTAGAAATGGATGTGT GGGGTCAGAGGGACATGTTTCTAGAAATGGAGGTGGGTCAGAGGGGCATG TTTCTGGAAATGGAGGTGGGTCAGAGGGGCATGTTTCTAGAAATGGATGT GGGGTCAGAGGGACATGTTTCTAGAAATGGAGGTGTGGGTCAGAGTGGCA TGTTTCTAGAAATGGAGGTGGATCAGAGGGGCATGTTTCTAGAAATGGAT GTGGGGTCAGAG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GNAL_chr18_11684264_11890685	11804146	A A	AGTTTGGA others(233): Show AGTTTGGATGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCGG TTTGGATGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCGGTT TGGATGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCGGTTTG GATGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCGGTTTGGA TGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0045 a0002c0002t0005g0045	1	248	0.0040	240	c.625 others(259): Show c.625-20439_625-20200dupTGCGGTTTGGATGGAACACGGAGATA CTGTGTAGTGGTGAAGTACAGGTGCGGTTTGGATGGAACACGGAGATACT GTGTAGTGGTGAAGTACAGGTGCGGTTTGGATGGAACACGGAGATACTGT GTAGTGGTGAAGTACAGGTGCGGTTTGGATGGAACACGGAGATACTGTGT AGTGGTGAAGTACAGGTGCGGTTTGGATGGAACACGGAGATACTGTGTAG TGGTGAAGTACAGG	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11747085_11890685	11804146	A A	AGTTTGGA others(233): Show AGTTTGGATGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCGG TTTGGATGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCGGTT TGGATGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCGGTTTG GATGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCGGTTTGGA TGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	284	0.0035	240	c.394 others(259): Show c.394-20439_394-20200dupTGCGGTTTGGATGGAACACGGAGATA CTGTGTAGTGGTGAAGTACAGGTGCGGTTTGGATGGAACACGGAGATACT GTGTAGTGGTGAAGTACAGGTGCGGTTTGGATGGAACACGGAGATACTGT GTAGTGGTGAAGTACAGGTGCGGTTTGGATGGAACACGGAGATACTGTGT AGTGGTGAAGTACAGGTGCGGTTTGGATGGAACACGGAGATACTGTGTAG TGGTGAAGTACAGG	GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GOLGA3_chr12_132763914_132833869	132793238	T T	TGACCCAC others(233): Show TGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCG CACGGGACCCGCACTCGGAGGGCTCCACACTGACCCACCGCACGGGACCC GCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGAG GGCTCCACACAGACCCACCCCACGGGACCCGCACTCGGAGGGCTCCACAC AGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACACA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0199 a0001c0009t0002g0199	1	308	0.0033	240	c.247 others(259): Show c.2470-1946_2470-1945insTGTGTGGAGCCCTCCGAGTGCGGGTC CCGTGCGGTGGGTCTGTGTGGAGCCCTCCGAGTGCGGGTCCCGTGGGGTG GGTCTGTGTGGAGCCCTCCGAGTGCGGGTCCCGTGCGGTGGGTCTGTGTG GAGCCCTCCGAGTGCGGGTCCCGTGCGGTGGGTCAGTGTGGAGCCCTCCG AGTGCGGGTCCCGTGCGGTGGGTCTGTGTGGAGCCCTCCGAGTGCGGGTC CCGTGCGGTGGGTC	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	11/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132793363	C C	CACCGCAC others(233): Show CACCGCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCGCACGG GACCCGCACTCGGAGGGCTCCACACAGACCCACCACACGGGATCTGAACT CGGAGGGCTCCACACAGACAGACCGCACGGGACCCGCACTCGGAGGGCTC CACACAGACCCACCCCACGGGACCCGCACTCGGAGGGCTCCACACAGACC CACCACACGGGATCTGAACTCGGAGGGCTCCACACAGACAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0021 a0005c0006t0001g0021	1	308	0.0033	240	c.247 others(259): Show c.2470-2071_2470-2070insCTGTCTGTGTGGAGCCCTCCGAGTTC AGATCCCGTGTGGTGGGTCTGTGTGGAGCCCTCCGAGTGCGGGTCCCGTG GGGTGGGTCTGTGTGGAGCCCTCCGAGTGCGGGTCCCGTGCGGTCTGTCT GTGTGGAGCCCTCCGAGTTCAGATCCCGTGTGGTGGGTCTGTGTGGAGCC CTCCGAGTGCGGGTCCCGTGCGGTGGGTCTGTGTGGAGCCCTCCGAGTGC GGGTCCCGTGCGGT	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	11/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132793518	A A	AGACCCAC others(233): Show AGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACACTGACCCACCG CACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACCC GCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGAG GGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACAC AGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACACT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	308	0.0033	240	c.247 others(259): Show c.2470-2226_2470-2225insAGTGTGGAGCCCTCCGAGTGCGGGTC CCGTGCGGTGGGTCTGTGTGGAGCCCTCCGAGTGCGGGTCCCGTGCGGTG GGTCTGTGTGGAGCCCTCCGAGTGCGGGTCCCGTGCGGTGGGTCTGTGTG GAGCCCTCCGAGTGCGGGTCCCGTGCGGTGGGTCTGTGTGGAGCCCTCCG AGTGCGGGTCCCGTGCGGTGGGTCAGTGTGGAGCCCTCCGAGTGCGGGTC CCGTGCGGTGGGTC	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	11/23			chr12	TogoVar
GP1BB_chr22_19718539_19729771	19726677	G G	GGTGAGGA others(233): Show GGTGAGGACGCTGTGGACGCCGTGAGGACGCTGTGGGGACGGTGAGGACG CTGTGGACGCGGTGAGGACGCTGTGGACGCGGCGAGGGAGCTGTCAGGGC GGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGACGCGGCGAGGGAG CTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGGGAC GGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGACGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	410	0.0024	240	c.22 others(251): Show c.2213_*2214insGTGAGGACGCTGTGGACGCCGTGAGGACGCTGTG GGGACGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGACGCGGCGA GGGAGCTGTCAGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTG GACGCGGCGAGGGAGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGA GGACGCTGTGGGGACGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTG GACGCC	GP1BB	ENSG00000203618.6	transcript	ENST00000366425.4	protein_coding		1907		chr22	TogoVar
GP6_chr19_55008705_55043264	55032891	A A	ACTCGTTC others(233): Show ACTCGTTCGTGTTAGACACGGTGGGCTCGTTCGTGTTAGACACGGTGGGC TCGTTCGTGTTAGACACGGTGGGCTCGTTCGTGTTAGACACGGTGGGCTC GTTCGTGTTAGACACGGTGGGCTCGTTCGTGTTAGACACGGTGGGCTCGT TCGTGTTAGACACGGTGGGCTCGTTCGTGTTAGACACGGTGGGCTCGTTC GTGTTAGACACGGTGGGCTCGTTCGTGTTAGACACGGTGGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0020 a0020	a0020c0033 a0020c0033	a0020c0033t0001 a0020c0033t0001	a0020c0033t0001g0376 a0020c0033t0001g0376	1	441	0.0023	240	c.35- others(253): Show c.35-354_35-353insCCCACCGTGTCTAACACGAACGAGCCCACCGT GTCTAACACGAACGAGCCCACCGTGTCTAACACGAACGAGCCCACCGTGT CTAACACGAACGAGCCCACCGTGTCTAACACGAACGAGCCCACCGTGTCT AACACGAACGAGCCCACCGTGTCTAACACGAACGAGCCCACCGTGTCTAA CACGAACGAGCCCACCGTGTCTAACACGAACGAGCCCACCGTGTCTAACA CGAACGAG	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar
GPHN_chr14_66503147_67186803	66683369	T T	TATATGTT others(233): Show TATATGTTCATATATATATATGTTCATATATATGTTCATATATATATGTT CATATATATGTATGTTCATATATATATGTACATATATATGTTCATATATG TATGTTCATATATATGTACATATATATGTTCATATATATATGTTCATATA TATATGTACATATATATGTTCATATATATATGTTCATATATATGTTCATA TATATATGTTCATATATATATGTTCATATATATATATGTTC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	234	0.0043	240	c.143 others(257): Show c.143+2188_143+2189insGTTCATATATATATATGTTCATATATAT GTTCATATATATATGTTCATATATATGTATGTTCATATATATATGTACAT ATATATGTTCATATATGTATGTTCATATATATGTACATATATATGTTCAT ATATATATGTTCATATATATATGTACATATATATGTTCATATATATATGT TCATATATATGTTCATATATATATGTTCATATATATATGTTCATATATAT ATATGTTCATAT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	66683415	T T	TATATATA others(233): Show TATATATATGTACATATATATGTTCATATATGTATGTTCATATATATATG TACATATATATGTTCATATATGTATGTTCATATATATATGTACATATATA TGTTCATATATGTATGTTCATATATATATGTACATATATATGTTCATATA TATATGTTCATATATATGTTCATATATATATGTTCATATATATATGTTCA TATATATATGTTCATATATATATGTTCATATATATATGTTC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	234	0.0043	240	c.143 others(257): Show c.143+2238_143+2239insGTACATATATATGTTCATATATGTATGT TCATATATATATGTACATATATATGTTCATATATGTATGTTCATATATAT ATGTACATATATATGTTCATATATGTATGTTCATATATATATGTACATAT ATATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCAT ATATATATGTTCATATATATATGTTCATATATATATGTTCATATATATAT GTTCATATATAT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPR146_chr7_1039546_1064261	1059848	T T	TCTTAGTG others(233): Show TCTTAGTGAGGCGGGTCTTAGTGAGGCAGGTCTTAGTGGGGCGGGTCCGT AATGAGGCGGGTCCATAGTGAGGCGGGTCCGTAGTGGGGCGGGTCTGTAG TGAGGTGGGTCTTAGCGGGGCGGGTCTTAGGGGGGCGGGTCCGTAGTGAG GCAGGTCTTAGGTGGGTCCGTAGTGGGGCGAGTCCGTAGTGAGGCAGGTC TTAGTGGGGCGGGTCCGTAATGAGGCGGGTCTTAGGCAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01934.hp1 HG01943.hp2 others(6): Show HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02293.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0036 a0001c0001t0002g0130 others(4): Show a0001c0001t0002g0022 a0001c0001t0002g0036 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0152 a0001c0001t0002g0170	9	434	0.0207	240	c.13 others(251): Show c.1331_*1332insCTTAGTGAGGCGGGTCTTAGTGAGGCAGGTCTTA GTGGGGCGGGTCCGTAATGAGGCGGGTCCATAGTGAGGCGGGTCCGTAGT GGGGCGGGTCTGTAGTGAGGTGGGTCTTAGCGGGGCGGGTCTTAGGGGGG CGGGTCCGTAGTGAGGCAGGTCTTAGGTGGGTCCGTAGTGGGGCGAGTCC GTAGTGAGGCAGGTCTTAGTGGGGCGGGTCCGTAATGAGGCGGGTCTTAG GCAGGC	GPR146	ENSG00000164849.10	transcript	ENST00000444847.2	protein_coding		588		chr7	TogoVar
GREB1_chr2_11529045_11647788	11618136	C C	CACTCCTG others(233): Show CACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCA CTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACT CCTGGGACAGGTCACTCCTGGGACGAGTCGCCCCTGGGATGGGTGACTCC TGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTG GGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0005 a0005	a0005c0002 a0005c0002	a0005c0002t0013 a0005c0002t0013	a0005c0002t0013g0188 a0005c0002t0013g0188	1	308	0.0033	240	c.341 others(255): Show c.3413-41_3413-40insCACTCCTGGGACGAGTCGCCCCTGGGATGG GTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGT CACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGA CTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACT CCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCC TGGGACAGGT	GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	21/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
GREB1_chr2_11529045_11647788	11618200	G G	GACTCCTG others(233): Show GACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCA CTCCTGGGACGAGTCGCCCCTGGGATGGGTGACTCCTGGGACAGGTCACT CCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCC TGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTG GGATGGGTGACTCCTGGGACAGGTCACTCCTGAGATGGGCC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0217 a0001c0001t0006g0217	1	308	0.0033	240	c.341 others(255): Show c.3413-41_3413-40insCACTCCTGGGACGAGTCGCCCCTGGGATGG GTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGT CACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGA CTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACT CCTGAGATGGGCCACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCC TGGGACAGGT	GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	21/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRTP1_chr13_113319163_113369130	113346471	C C	CAGGAGGA others(233): Show CAGGAGGATCTCTGTGGCTGAGAACAGACCCGGGAGGACCTCTGTGGACA AGAGCAGACCCGGGAGGACCTCTGTGGCTGACAGTGGACCCGGGAGGACC TCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGCCTGACAGTGGACC CGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGATCTCTGTGGCCG AGAGCAGACCCAGGAGGACCTCTGTGGCTGACAGTGGACCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	288	0.0035	240	c.466 others(257): Show c.466-1513_466-1512insAGGTCCACTGTCAGCCACAGAGGTCCTC CTGGGTCTGCTCTCGGCCACAGAGATCCTCCCGGGTCCACTGTCAGGCAC AGAGGTCCTCCCGGGTCCACTGTCAGGCACAGAGGTCCTCCCGGGTCCAC TGTCAGGCACAGAGGTCCTCCCGGGTCCACTGTCAGCCACAGAGGTCCTC CCGGGTCTGCTCTTGTCCACAGAGGTCCTCCCGGGTCTGTTCTCAGCCAC AGAGATCCTCCT	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346502	G G	GGGAGGAC others(233): Show GGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGCCTGA CAGTGGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCT CTGTGGCTGAGAACAGACCCAGGAGGACCTCTGTGGCCGAGAGCAGACCC AGGAGGACCTCTGTGGCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGA GAGCAGACCCGGGAGGACCTCTGTGGCTGAGAACAGACCCA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	288	0.0035	240	c.466 others(257): Show c.466-1544_466-1543insTGGGTCTGTTCTCAGCCACAGAGGTCCT CCCGGGTCTGCTCTCAGCCACAGAGGTCCTCCCGGGTCCACTGTCAGCCA CAGAGGTCCTCCTGGGTCTGCTCTCGGCCACAGAGGTCCTCCTGGGTCTG TTCTCAGCCACAGAGGTCCTCCCGGGTCCACTGTCAGGCACAGAGGTCCT CCCGGGTCCACTGTCAGGCACAGAGGTCCTCCCGGGTCCACTGTCAGGCA CAGAGGTCCTCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347602	G G	GGGAGGAC others(233): Show GGGAGGACCTCTGTGGCCGAGAGCAGACCCAGGAGGACCTCTGTGCCTGA CAGTGGAGCCGGGAGGACCTCTGTGGCTGAGAACAGACCCGGGAGGACCT CTGTGGCAAAGAGCAGACCCAGGAGGACCTCTGTGGACAAGAGCAGACCC GGGAGGACCTCTGTGGCCGAGAGCAGACCCAGGAGGACCTCTGTGGACAA GAGCAGACCCGGGAGGACCTCTGTGGCCGAGAGCAGACCCA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	288	0.0035	240	c.466 others(257): Show c.466-2644_466-2643insTGGGTCTGCTCTCGGCCACAGAGGTCCT CCCGGGTCTGCTCTTGTCCACAGAGGTCCTCCTGGGTCTGCTCTCGGCCA CAGAGGTCCTCCCGGGTCTGCTCTTGTCCACAGAGGTCCTCCTGGGTCTG CTCTTTGCCACAGAGGTCCTCCCGGGTCTGTTCTCAGCCACAGAGGTCCT CCCGGCTCCACTGTCAGGCACAGAGGTCCTCCTGGGTCTGCTCTCGGCCA CAGAGGTCCTCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113364444	A A	AGGAGGGG others(233): Show AGGAGGGGCAGGAGCGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAG GGGCGGGGCTGGGGGCGGGGAGGACTTGGGGACAGAGGAGGGGCAGGAGC GGGGGGAGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGGAGGGGGCGG GGCTGGGGGCGGGAGGACCTGGTGAGAGAGGAGGGGCGGGGGAGGGGGAG GGGAGAGAGGAGGAGGGTGGGGGCGGGGCGGGGAATGGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	288	0.0035	240	c.-39 others(249): Show c.-394_-393insGCACCATTCCCCGCCCCGCCCCCACCCTCCTCCTCT CTCCCCTCCCCCTCCCCCGCCCCTCCTCTCTCACCAGGTCCTCCCGCCCC CAGCCCCGCCCCCTCCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCTC CCCCCGCTCCTGCCCCTCCTCTGTCCCCAAGTCCTCCCCGCCCCCAGCCC CGCCCCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCGCTCCTGCCC CTCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding		315		chr13	TogoVar
GTPBP6_chrX_299759_323796	313971	C C	CCCCCACC others(233): Show CCCCCACCCTGTTGGAATCTTCCAGGGCTGAGGGTCTCCTATGTCCTCAA ATGCTACCAGGAGACGGAGACCCCAGCTGGACCCCACCCTGTTGGAATCT TCCAGGGCTGAGGGTCTCCTATGTCCTCAAATGCTACCAGGAGACGGAGA CCCCAGCTGGACCCCACCCTGTTGGAATCTTCCAGGGCTGAGGGTCTCCT ATGTCCTCAAATGCTACCAGGAGACGGAGACCCCAGCTGGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0072 a0001c0003t0001g0072	1	155	0.0065	240	c.757 others(255): Show c.757+178_757+179insTCCAGCTGGGGTCTCCGTCTCCTGGTAGCA TTTGAGGACATAGGAGACCCTCAGCCCTGGAAGATTCCAACAGGGTGGGG TCCAGCTGGGGTCTCCGTCTCCTGGTAGCATTTGAGGACATAGGAGACCC TCAGCCCTGGAAGATTCCAACAGGGTGGGGTCCAGCTGGGGTCTCCGTCT CCTGGTAGCATTTGAGGACATAGGAGACCCTCAGCCCTGGAAGATTCCAA CAGGGTGGGG	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	5/9			chrX	TogoVar
GTPBP6_chrX_299759_323796	316049	C C	CACACAGA others(233): Show CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA ACACATACATACGCAGACACACACACACACACACACACTAAATACATCCC GACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAA ACACATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACAC ACACACACACACACACAGTAAATACATCCCGACAGGGACAG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0110 a0002c0002t0001g0110	1	155	0.0065	240	c.488 others(255): Show c.488-751_488-750insCTGTCCCTGTCGGGATGTATTTACTGTGTG TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG CTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT CTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTGCG TATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTGT GTCTCTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
GTPBP6_chrX_299759_323796	316177	C C	CACACAGA others(233): Show CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA ACACATACATACGCAGACACACACACACACACACACACTAAATACATCCC GACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAA ACACATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACAC ACACACACACACACACAGTAAATACATCCCGACAGGGACAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00558.hp1 others(14): Show HG00408.hp1 HG00423.hp2 HG00558.hp1 HG00733.hp2 HG01169.hp2 HG01175.hp1 HG02040.hp1 HG02129.hp2 HG02155.hp1 HG02717.hp1 HG03491.hp1 NA18942.hp1 NA18961.hp1 NA18967.hp1 NA18992.hp1 NA19063.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 a0002c0005t0002	a0002c0002t0001g0074 a0002c0002t0001g0122 a0002c0002t0001g0124 others(14): Show a0002c0002t0001g0074 a0002c0002t0001g0122 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0138 a0002c0002t0001g0141 a0002c0002t0002g0125 a0002c0005t0001g0079 a0002c0005t0002g0123 a0002c0005t0002g0130	17	155	0.1097	240	c.487 others(255): Show c.487+736_487+737insCTGTCCCTGTCGGGATGTATTTACTGTGTG TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG CTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT CTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTGCG TATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTGT GTCTCTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
HAUS2_chr15_42543838_42574994	42557472	G G	GTATATTA others(233): Show GTATATTATATATAATGTATACATTGTATACAATGTATATTATATATAAT GTATACATTGTATACAATGTATATTATATATAATGTATACATTGTATACA ATGTATATTATATATAATGTATACATTGTATACAATGTATATTATATATA ATGTATACATTGTATACAATGTATATTATATATAATATACATTGTATACA ATGTATATATTATATATAATATATACATTGTATACAATGTA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0029 a0001c0001t0005g0029	1	350	0.0029	240	c.94- others(253): Show c.94-711_94-710insGTATACATTGTATACAATGTATATTATATATA ATGTATACATTGTATACAATGTATATTATATATAATGTATACATTGTATA CAATGTATATTATATATAATGTATACATTGTATACAATGTATATTATATA TAATGTATACATTGTATACAATGTATATTATATATAATATACATTGTATA CAATGTATATATTATATATAATATATACATTGTATACAATGTATATATTA TATATAAT	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
HCN2_chr19_584881_622159	585322	A A	ACCCCGTC others(233): Show ACCCCGTCGGTGGGTGCCCGGCGCGGAGGGGTGCGGAGGTGGATGTCCGC CCCGTCGGTGGGTGCCCGGCGCGGAGGGGTGCGGAGGTGGATGTCCGCCC CGTCGGTGGGTGCCCGGCGCGGAGGGGTGCGGAGGTGGATGTCCGCCCCG TCGGTGGGTGCCCGGCGCGGAGGGGTGCGGAGGTGGATGTCCGCCCCGTC GGTGGGTGCCCGGCGCGGAGGGGTGCGGAGGTGGATGTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0244 a0001c0006t0002g0244	1	408	0.0025	240	c.-46 others(251): Show c.-4624_-4623insCCCCGTCGGTGGGTGCCCGGCGCGGAGGGGTGCG GAGGTGGATGTCCGCCCCGTCGGTGGGTGCCCGGCGCGGAGGGGTGCGGA GGTGGATGTCCGCCCCGTCGGTGGGTGCCCGGCGCGGAGGGGTGCGGAGG TGGATGTCCGCCCCGTCGGTGGGTGCCCGGCGCGGAGGGGTGCGGAGGTG GATGTCCGCCCCGTCGGTGGGTGCCCGGCGCGGAGGGGTGCGGAGGTGGA TGTCCG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding		4558		chr19	TogoVar
HIVEP3_chr1_41501365_41923922	41544847	C C	CACCTCTA others(233): Show CACCTCTACCACCACCATCACCACCACCACTACCACCTCTACCACCTCTA CCACCACTACCACCACCACCACCTCTACCACCACTGCTACCATCACCACC ACCACCACTACCCCCTGTACCACCACCGCTACCATCACCACCACTACCAC CACCATCACCACCACTACCACTACCTCTACCTCCACTGCTACCATCACCA CCACCACTACCACCTCTACCACCACAATCACCACCACCACT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0004 a0011c0021t0004	a0011c0021t0004g0074 a0011c0021t0004g0074	1	134	0.0075	240	c.520 others(261): Show c.5208-19938_5208-19937insAGTGGTGGTGGTGATTGTGGTGGT AGAGGTGGTAGTGGTGGTGGTGATGGTAGCAGTGGAGGTAGAGGTAGTGG TAGTGGTGGTGATGGTGGTGGTAGTGGTGGTGATGGTAGCGGTGGTGGTA CAGGGGGTAGTGGTGGTGGTGGTGATGGTAGCAGTGGTGGTAGAGGTGGT GGTGGTGGTAGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTGGTGGTGA TGGTGGTGGTAGAGGT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HTR2C_chrX_114579086_114915061	114807369	C C	CTATACCA others(233): Show CTATACCATGTATATACGCCATATCTATACCATGTATATACGCCATATCT ATACCATGTATATACGCCATATCTATACCATGTATATACGCCATATATAT ACCATGTATATACGCCATATATATACCATATATATACGCCATATATATAC CATATATATACGCCATATATATACCATATATATACGCCATATATATACCA TATATATACGCCATATATATACCATATATATACGCCATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0031 a0002c0002t0002g0031	1	176	0.0057	240	c.350 others(259): Show c.350-40626_350-40625insGTATATACGCCATATCTATACCATGT ATATACGCCATATCTATACCATGTATATACGCCATATCTATACCATGTAT ATACGCCATATATATACCATGTATATACGCCATATATATACCATATATAT ACGCCATATATATACCATATATATACGCCATATATATACCATATATATAC GCCATATATATACCATATATATACGCCATATATATACCATATATATACGC CATATATATACCAT	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
IGHMBP2_chr11_68898891_68945601	68929815	C C	CGGAGCCC others(233): Show CGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTG GAGCCCTGATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGA GCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGC CCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGCCC TGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01123.hp2 HG01261.hp1 HG00733.hp1 HG01123.hp2 HG01261.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0247 a0002c0002t0002g0273 a0002c0002t0002g0276 a0002c0002t0002g0247 a0002c0002t0002g0273 a0002c0002t0002g0276	3	374	0.0080	240	c.123 others(257): Show c.1235+510_1235+511insCCCTGATGCGGTGGCCTGGCCCAGGCTG TCCTGGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTC CTGGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCT GGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGG TGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTG GAGACACTGGAG	IGHMBP2	ENSG00000132740.10	transcript	ENST00000255078.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
IGHMBP2_chr11_68898891_68945601	68929815	C C	CGGAGCCC others(233): Show CGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTG GAGTCCTGATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGA GCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGC CCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGTCC TGATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	374	0.0027	240	c.123 others(257): Show c.1235+588_1235+589insCTGGTGGAGACACTGGAGCCCTGATGCA GTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGTCCTGATGCGGT GGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGCCCTGATGCAGTGG CCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGTCCTGATGCGGTGGCC TGGCCCAGGCTGTCCTGGTGGAGACACTGGAGCCCTGATGCAGTGGCCTG GCCCAGGCTGTC	IGHMBP2	ENSG00000132740.10	transcript	ENST00000255078.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
IL18R1_chr2_102350796_102403776	102352841	A A	AATATATA others(233): Show AATATATATAATATATAATATATTATATATAATATATAATATACATTATA TTATATATGATATATATTTTATATATTATATTATATATGATATATATTTT ATATATTATATTATATATGATATATATTTTATATATTATATTATATATGA TATATATTTTATATATATATAAAATTTATATATAATATTATATATAATAT TATATATTTTATATATAATATTATATATAATATTATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02622.hp1 HG02280.hp2 HG02622.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0007c0009 a0001c0002 a0007c0009	a0001c0002t0012 a0007c0009t0012 a0001c0002t0012 a0007c0009t0012	a0001c0002t0012g0088 a0007c0009t0012g0087 a0001c0002t0012g0088 a0007c0009t0012g0087	2	366	0.0055	240	c.-35 others(251): Show c.-3588_-3587insATATATATAATATATAATATATTATATATAATAT ATAATATACATTATATTATATATGATATATATTTTATATATTATATTATA TATGATATATATTTTATATATTATATTATATATGATATATATTTTATATA TTATATTATATATGATATATATTTTATATATATATAAAATTTATATATAA TATTATATATAATATTATATATTTTATATATAATATTATATATAATATTA TATATT	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		2954		chr2	TogoVar
IL1RL1_chr2_102306563_102357037	102352841	A A	AATATATA others(233): Show AATATATATAATATATAATATATTATATATAATATATAATATACATTATA TTATATATGATATATATTTTATATATTATATTATATATGATATATATTTT ATATATTATATTATATATGATATATATTTTATATATTATATTATATATGA TATATATTTTATATATATATAAAATTTATATATAATATTATATATAATAT TATATATTTTATATATAATATTATATATAATATTATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02622.hp2 HG02280.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0128 a0001c0001t0001g0129	2	348	0.0058	240	c.92 others(249): Show c.920_*921insATATATATAATATATAATATATTATATATAATATAT AATATACATTATATTATATATGATATATATTTTATATATTATATTATATA TGATATATATTTTATATATTATATTATATATGATATATATTTTATATATT ATATTATATATGATATATATTTTATATATATATAAAATTTATATATAATA TTATATATAATATTATATATTTTATATATAATATTATATATAATATTATA TATT	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding		805		chr2	TogoVar
IL32_chr16_3060640_3074530	3066910	C C	CGGCCCAC others(233): Show CGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCCCGGCCCACGC AGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCT CTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGA GGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCT AGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	458	0.0022	240	c.16- others(253): Show c.16-429_16-428insCCGGCCCACGCAGGCCCTGCTCTTGTGAGGAG GGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTA GGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCA GGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTC TTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAG GGGTCACC	IL32	ENSG00000008517.19	transcript	ENST00000525643.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
IL32_chr16_3060640_3074530	3066910	C C	CGGCCCAC others(233): Show CGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGC AGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCT CTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTGAGGA GGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCT AGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0358 a0001c0001t0001g0358	1	458	0.0022	240	c.16- others(253): Show c.16-341_16-340insTGCTGGCCCTGCTCTTGTGAGGAGGGGTCACC TAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACG CAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGC TCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGG AGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACC TAGGCCCA	IL32	ENSG00000008517.19	transcript	ENST00000525643.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
IL32_chr16_3060640_3074530	3066910	C C	CGGCCCAC others(233): Show CGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGC AGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGCT CTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGA GGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCT AGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0344 a0001c0001t0001g0344	1	458	0.0022	240	c.16- others(253): Show c.16-381_16-380insTGCTGGCCCTGCTCTTGTGAGGAGGGGTCACC TAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATG CTGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGC TCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGG AGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACC TAGGCCCA	IL32	ENSG00000008517.19	transcript	ENST00000525643.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
IL32_chr16_3060640_3074530	3066920	A A	AGGCCCTG others(233): Show AGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGCT CTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTGAGGA GGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCT AGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGC TGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0393 a0001c0001t0001g0393	1	458	0.0022	240	c.16- others(253): Show c.16-421_16-420insTGCTGGCCCTGCTCTTGTGAGGAGGGGTCACC TAGGCCCATGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATG CTGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGC TCTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTGAGG AGGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTGAGGAGGGGTCACC TAGGCCCA	IL32	ENSG00000008517.19	transcript	ENST00000525643.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
IL32_chr16_3060640_3074530	3066920	A A	AGGCCCTG others(233): Show AGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGCT CTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTGAGGA GGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCT AGGCCCATGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGC TGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGCT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	458	0.0022	240	c.16- others(253): Show c.16-421_16-420insTGCTGGCCCTGCTCTTGTGAGGAGGGGTCACC TAGGCCCATGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATG CTGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGC TCTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTGAGG AGGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTGAGGAGGGGTCACC TAGGCCCA	IL32	ENSG00000008517.19	transcript	ENST00000525643.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
IL32_chr16_3060640_3074530	3067080	A A	AGGCCCTG others(233): Show AGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCT CTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGA GGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCT AGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGC AGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	458	0.0022	240	c.16- others(253): Show c.16-261_16-260insCGCAGGCCCTGCTCTTGTGAGGAGGGGTCACC TAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACG CAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGC TCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGG AGGGGTCACCTAGGCCCACGCTGGCCCTGCTCTTGTGAGGAGGGGTCACC TAGGCCCA	IL32	ENSG00000008517.19	transcript	ENST00000525643.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
IL32_chr16_3060640_3074530	3067120	T T	TGGCCCTG others(233): Show TGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCT CTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTGAGGA GGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCT AGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGC TGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0119 a0001c0001t0003g0119	1	458	0.0022	240	c.16- others(253): Show c.16-244_16-243insTGAGGAGGGGTCACCTAGGCCCACGCAGGCCC TGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTG AGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTC ACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCC ATGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCC TGCTCTTG	IL32	ENSG00000008517.19	transcript	ENST00000525643.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
IL32_chr16_3060640_3074530	3067120	T T	TGGCCCTG others(233): Show TGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGCT CTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGA GGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCT AGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGC TGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	458	0.0044	240	c.16- others(253): Show c.16-244_16-243insTGAGGAGGGGTCACCTAGGCCCATGCTGGCCC TGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTG AGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTC ACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCC ATGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCC TGCTCTTG	IL32	ENSG00000008517.19	transcript	ENST00000525643.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
IL32_chr16_3060640_3074530	3067120	T T	TGGCCCTG others(233): Show TGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGCT CTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTGAGGA GGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCT AGGCCCATGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGC AGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	458	0.0022	240	c.16- others(253): Show c.16-244_16-243insTGAGGAGGGGTCACCTAGGCCCATGCTGGCCC TGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTG AGGAGGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTGAGGAGGGGTC ACCTAGGCCCATGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCC ACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCC TGCTCTTG	IL32	ENSG00000008517.19	transcript	ENST00000525643.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
INS_chr11_2154779_2166209	2161848	G G	GACCCCTG others(233): Show GACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCT GTCCCCAGACCCCTATCCCCACACCCCTGTCCCCAGACCCCTGTCCCCAC ACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGT CCCCACACCCCTATCCCCACATCCCTGTCCCCAGACCCCTGTCCCCACAC CCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02976.hp2 HG06807.hp2 HG02886.hp1 HG02976.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	3	376	0.0080	240	c.-69 others(249): Show c.-699_-698insGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGA CAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGATGTGGGGATAGGGGTG TGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACA GGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGATAGGGGTCTG GGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAG GGGT	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		640		chr11	TogoVar
INS_chr11_2154779_2166209	2161873	C C	CCACACCC others(233): Show CCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCGGGACC CCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCC CACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCA CACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	376	0.0027	240	c.-72 others(249): Show c.-724_-723insAGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAG GGGTGTGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGG GGACAGGGGTCTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGG GTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGG ACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGG TGTG	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		665		chr11	TogoVar
IPCEF1_chr6_154149496_154361803	154354415	A A	ACCTCCAC others(233): Show ACCTCCACCACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTC CTCCACCACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCT CCACCACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCC ACCACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCCAC CACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02976.hp1 HG02818.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0258 a0001c0001t0007g0003 a0001c0001t0004g0258 a0001c0001t0007g0003	2	264	0.0076	240	c.-62 others(257): Show c.-62+2256_-62+2257insAGATGGTGGAGGTGGTGGTGGAGGAGAT GGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGG TGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGGTG GAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGGTGGA GGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGGTGGAGG TGGTGGTGGAGG	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	1/11			chr6	TogoVar
IRAG2_chr12_25047706_25113335	25106528	T T	TCAGACTC others(233): Show TCAGACTCTGTCTCTTAAATATATATATATATTATATATACATGTATTTA TATATATGCACACATATAAAATATATATTAAATATGTGCACATATATAAA ATATGTGTATTATTAAATATGTATTATATAAATACATAATATATGCATAA TATATATGTGTATATAATCTATAAATATGTGTATATATAATATATATTTT TAATATGTGTATATATAATATATATTTTTTTAAGAGACAGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp1 HG02615.hp1 HG02647.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0062 a0003c0003t0001g0170 a0003c0003t0001g0062 a0003c0003t0001g0170	2	344	0.0058	240	c.114 others(257): Show c.1149-415_1149-414insCAGACTCTGTCTCTTAAATATATATATA TATTATATATACATGTATTTATATATATGCACACATATAAAATATATATT AAATATGTGCACATATATAAAATATGTGTATTATTAAATATGTATTATAT AAATACATAATATATGCATAATATATATGTGTATATAATCTATAAATATG TGTATATATAATATATATTTTTAATATGTGTATATATAATATATATTTTT TTAAGAGACAGA	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	20/21			chr12	TogoVar
IRAG2_chr12_25047706_25113335	25106550	G G	GTACAGTA others(233): Show GTACAGTAGTGCAACCATAGCTCACTACAGCCTCCAACTCCAGGGCTCAA GCAATCCCTGGAGTCCTGAGATCCTTGGGAGGAATCCCCTTTCTTGGCCT CCCAAAGTGCTGAGATTAAAGTGTTTAATAAAGTATGGTTAAACATGCAC ACACACACACATATATAGTTTTGGAAACAATCTGCCTCCCACCCTTTGTA ACTATTAGGATTAAAGAAATGCATATACATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp2 HG00639.hp1 others(18): Show HG00323.hp1 HG00609.hp2 HG00639.hp1 HG01123.hp1 HG01256.hp1 HG01515.hp2 HG01517.hp2 HG01981.hp2 HG02071.hp2 HG02083.hp1 HG02135.hp2 HG02293.hp1 HG02559.hp2 HG02602.hp2 HG02647.hp1 HG06807.hp1 NA18947.hp1 NA18960.hp1 NA18971.hp2 NA18988.hp2 NA18989.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0007 a0003c0003 others(1): Show a0001c0001 a0001c0007 a0003c0003 a0005c0006	a0001c0001t0001 a0001c0007t0001 a0003c0003t0001 others(4): Show a0001c0001t0001 a0001c0007t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0005 a0005c0006t0007	a0001c0001t0001g0025 a0001c0001t0001g0132 a0001c0001t0001g0133 others(18): Show a0001c0001t0001g0025 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0197 a0001c0001t0001g0215 a0001c0007t0001g0129 a0001c0007t0001g0130 a0003c0003t0001g0170 a0003c0003t0002g0203 a0003c0003t0002g0260 a0003c0003t0002g0261 a0003c0003t0002g0286 a0003c0003t0004g0314 a0003c0003t0004g0315 a0003c0003t0004g0316 a0003c0003t0004g0317 a0003c0003t0005g0034 a0003c0003t0005g0036 a0005c0006t0007g0051	21	344	0.0611	240	c.114 others(257): Show c.1149-392_1149-391insACAGTAGTGCAACCATAGCTCACTACAG CCTCCAACTCCAGGGCTCAAGCAATCCCTGGAGTCCTGAGATCCTTGGGA GGAATCCCCTTTCTTGGCCTCCCAAAGTGCTGAGATTAAAGTGTTTAATA AAGTATGGTTAAACATGCACACACACACACATATATAGTTTTGGAAACAA TCTGCCTCCCACCCTTTGTAACTATTAGGATTAAAGAAATGCATATACAT ATATATATATAT	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAK2_chr3_10159919_10248745	10224725	T T	TACCCATC others(233): Show TACCCATCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCA CCTGTCCACCCATCCATCCACCCACCCACCCACCCACCCACCCACCCACC CATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCA TCCATCCACCCACCCACCTGTCCACCCATGTACCCACCCTCCCACCAACC CACCCACCCATCCATTTATCCACCTACCCACACATCCACCC	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0004 a0008c0011t0004	a0008c0011t0004g0014 a0008c0011t0004g0014	1	292	0.0034	240	c.121 others(259): Show c.1210-1629_1210-1628insCCCACCCACCCACCCATCCATCCACC CACCCACCTGTCCACCCATCCATCCACCCACCCACCCACCCACCCACCCA CCCACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACC CACCCATCCATCCACCCACCCACCTGTCCACCCATGTACCCACCCTCCCA CCAACCCACCCACCCATCCATTTATCCACCTACCCACACATCCACCCACC CATCCATCCATCCA	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
IRAK2_chr3_10159919_10248745	10224728	C C	CCATCCAT others(233): Show CCATCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCT GTCCACCCATCCATCCACCCACCCACCTGTCCACCCATCCATCCACCCAC CCACCCACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCC ACCCACCCATCCATCCACCCACCCACCTGTCCACCCATGTACCCACCCTC CCACCAACCCACCCACCCATCCATTTATCCACCTACCCACA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG02257.hp1 others(6): Show HG01891.hp2 HG02055.hp2 HG02257.hp1 HG02258.hp2 HG02615.hp2 HG02976.hp1 HG03098.hp2 HG03471.hp1 HG03516.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0014c0015 a0001c0001 a0014c0015	a0001c0001t0003 a0001c0001t0007 a0014c0015t0008 a0001c0001t0003 a0001c0001t0007 a0014c0015t0008	a0001c0001t0003g0009 a0001c0001t0003g0073 a0001c0001t0003g0273 others(6): Show a0001c0001t0003g0009 a0001c0001t0003g0073 a0001c0001t0003g0273 a0001c0001t0003g0278 a0001c0001t0003g0281 a0001c0001t0003g0286 a0001c0001t0003g0288 a0001c0001t0007g0059 a0014c0015t0008g0221	9	292	0.0308	240	c.121 others(259): Show c.1210-1629_1210-1628insCCCACCCACCCACCCATCCATCCACC CACCCACCTGTCCACCCATCCATCCACCCACCCACCTGTCCACCCATCCA TCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCATCCATC CACCCACCCACCCACCCATCCATCCACCCACCCACCTGTCCACCCATGTA CCCACCCTCCCACCAACCCACCCACCCATCCATTTATCCACCTACCCACA CATCCATCCATCCA	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
JAZF1_chr7_27825577_28185795	28110448	A A	AAAGGAAA others(233): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGAAAGGAAAGGA AAGGAAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAAGGAAAGGAAAGGAAAGGAAAG GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	206	0.0049	240	c.115 others(259): Show c.115+70014_115+70015insCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTTCCTTTCCTTTCCTTTCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
JPH2_chr20_44101590_44192188	44134139	A A	AATAAATA others(233): Show AATAAATATTTATTATAAATATATAAATATTATAAATATATAAATATTAT AAATATATAAATATTATAAATATATAAATATTTATTATAAATATATAAAT ATTTATTATAAATATATAAATATTTATTATAAATATATAAATATTTATTA TAAATATATAAATATTTATTATAAATATATAAATATTTATTATAAATATA TAAATATTTATTATAAATATATAAATATTTATTATAAATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0071 a0001c0004t0071	a0001c0004t0071g0138 a0001c0004t0071g0138	1	338	0.0030	240	c.117 others(261): Show c.1170-15517_1170-15516insATATTTATAATAAATATTTATATA TTTATAATAAATATTTATATATTTATAATAAATATTTATATATTTATAAT AAATATTTATATATTTATAATAAATATTTATATATTTATAATAAATATTT ATATATTTATAATAAATATTTATATATTTATAATAAATATTTATATATTT ATAATATTTATATATTTATAATATTTATATATTTATAATATTTATATATT TATAATAAATATTTAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KCNC3_chr19_50306937_50334377	50331494	T T	TCTTCTTC others(233): Show TCTTCTTCCCCTTCTCCCCATCTCTGGTGTATTTCCCCCTCCTTCTTCCC CTTCTCCCCATCTCTGGTGTATTTCCCCCTCCTTCTTCCCCTTCTCCCCA TCTCTGGTGTATTTCCCCCTCCTTCTTCCCCTTCTCCCCATCTCTGGTGT ATTTCCCCCTCCTTCTTCCCCTTCTCCCCATCTCTGGTGTATTTCCCCCT CCTTCTTCCCCTTCTCCCCATCTCTGGTGTATTTCCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0174 a0001c0001t0013g0174	1	380	0.0026	240	c.-24 others(251): Show c.-2413_-2412insGAGGGGGAAATACACCAGAGATGGGGAGAAGGGG AAGAAGGAGGGGGAAATACACCAGAGATGGGGAGAAGGGGAAGAAGGAGG GGGAAATACACCAGAGATGGGGAGAAGGGGAAGAAGGAGGGGGAAATACA CCAGAGATGGGGAGAAGGGGAAGAAGGAGGGGGAAATACACCAGAGATGG GGAGAAGGGGAAGAAGGAGGGGGAAATACACCAGAGATGGGGAGAAGGGG AAGAAG	KCNC3	ENSG00000131398.15	transcript	ENST00000477616.2	protein_coding		2118		chr19	TogoVar

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