JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
SEL1L2_chr20_13844247_13995614	13934322	G G	GTATTCCA others(536): Show GTATTCCATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATATTCCATATATATATATATTCCATATATATATATATATTCCATATA TATATATATTCCATATATATATATTCCATATATATATATATTCCATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATTCCATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATTCCATATATATATATTCCATATATATATA TTCCATATATATATATATTCCATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATTCCATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	324	0.0031	543	c.115 others(560): Show c.115-2552_115-2551insTATATATATGGAATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATGGAAT ATATATATATATGGAATATATATATATGGAATATATATATATGGAATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATGGAATATATATATATATGGAATATATAT ATATGGAATATATATATATATGGAATATATATATATATATGGAATATATA TATATATGGAATATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATGGAATA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEPTIN9_chr17_77276499_77505593	77356661	G G	GCTTTCCT others(536): Show GCTTTCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT ACCTCCTCCCCTCCCCCTCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCT CCCCCTTCCCTCCCCTCCCCCTCCCCCTTCCCTCCCCTCCCCCTCCCCCT CCCCTCCCCTCCCCCCCACACCCTTCCCCCTCCCCCCTCCCCACCCTCCC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCTCC CCACCCCTTCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCACCCT TCCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCC CCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCATCCCCTCCCTCCCCATCCCCTCCCCTCCCCCTCCC CACCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0050 a0002c0002t0050	a0002c0002t0050g0147 a0002c0002t0050g0147	1	150	0.0067	543	c.77- others(560): Show c.77-45392_77-45391insTCCCCCTCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCTCCCCTCCCCCTCC CCACCCCTTCCCCCTCCCCCTTCCCTCCCCTCCCCCTCCCCCTTCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCCACACCCTTCCCCCTCCCC CCTCCCCACCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCACCCC TTCCCCCTCCCCTCCCCACCCCTTCCCCCTCCCCTCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCCCTCCCCACCCTTCCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCC CTCCCCATCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCTCCCCATCCCC TCCCCTCCCCCTCCCCACCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCTCCCCCTTTCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356661	G G	GCTTTCCT others(536): Show GCTTTCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT ACCTCCTCCCCTCCCCCTCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCT CCCCCTTCCCTCCCCTCCCCCTCCCCCTTCCCTCCCCTCCCCCTCCCCCT CCCCTCCCCTCCCCCCCACACCCTTCCCCCTCCCCCCTCCCCACCCTCCC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCTCC CCACCCCTTCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCACCCT TCCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCC CCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCATCCCCTCCCTCCCCATCCCCTCCCCTCCCCCTCCC CACCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0036	a0002c0002t0036g0133 a0002c0002t0036g0133	1	158	0.0063	543	c.22+ others(560): Show c.22+36319_22+36320insTCCCCCTCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCTCCCCTCCCCCTCC CCACCCCTTCCCCCTCCCCCTTCCCTCCCCTCCCCCTCCCCCTTCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCCACACCCTTCCCCCTCCCC CCTCCCCACCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCACCCC TTCCCCCTCCCCTCCCCACCCCTTCCCCCTCCCCTCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCCCTCCCCACCCTTCCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCC CTCCCCATCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCTCCCCATCCCC TCCCCTCCCCCTCCCCACCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCTCCCCCTTTCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SIGIRR_chr11_400716_419999	401197	C C	CGCCCCGC others(536): Show CGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCC CGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACC CCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCG CCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCC CCGCTCACACCCGCCCCGCTCACACCCGGCCCCCGCTCACACCCGACCCG CTCACCCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTC ACACCCGCCCCGCTCACCCCCCGGCCCGCTCACACCCGCCCCGCTCACCC CCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCG GCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	242	0.0041	543	c.46 others(554): Show c.4698_*4699insCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGG GTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTG TGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGA GCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGGTGAGCG GGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGGGGCC GGGGGGTGAGCGGGTCGGGTGTGAGCGGGGGCCGGGTGTGAGCGGGGCGG GTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGG GTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGA GCGGGGCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGCGGG GCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCG GGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGCGGGGCGGGTGT GAGCGGGGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4518		chr11	TogoVar
SMYD3_chr1_245744347_246512279	246325221	G G	GGGAAGGA others(536): Show GGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTC GGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAG AAGGAGTCGCGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAG GAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGG CAGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGT CGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGA AGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGG AGGGAGAAGGAGTCGCGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGC AGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCG GGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGGCGGGAAGGAGGGAGA AGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	150	0.0067	543	c.531 others(560): Show c.531+1979_531+1980insTGCCCCCCCGACTCCTTCTCCCTCCTTC CCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCCGACTCCTTCTC CCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTC CTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCC GCGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTC CCGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCC TCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCC TTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCC CGACTCCTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCC GCCCCCGCGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCC TCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTC CTTCTCCCTCCTTCC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNX9_chr6_157818246_157950077	157827544	T T	TTATAGTT others(536): Show TTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATATAA AATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA CACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATAT AATATATACACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACAT ATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATAT ATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTA TATAATATATAAACATATATTATAGTTTATATAATATATAAACA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0148 a0006c0014t0001g0148	1	302	0.0033	543	c.12+ others(558): Show c.12+4102_12+4103insGTTTATATAATATATAAAATATATTATAGT TTATATAATATATAAAATATATTATAGTTTATATAATATATAAAATATAT TATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATAC ACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATA ATATATACACATATATTATAGTTTATATAATATATACACATATATTATAG TTTATATAATATATACACATATATTATAGTTTATATAATATATACACATA TATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATA TAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTAT ATAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTA TAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAAC ATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAAT ATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SUFU_chr10_102498972_102638535	102637474	A A	ATTATATA others(536): Show ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATAATATATATATTATATATTATATAACTAT ATATTATATATATTATATATATTATATATTATATAACTATATATTATATA TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATAATATAACTATATATTATATATAATATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0223 a0001c0001t0003g0223	1	268	0.0037	543	c.73 others(554): Show c.7319_*7320insTTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATATATTATATATAATATATATATTAT ATATTATATAACTATATATTATATATATTATATATATTATATATTATATA ACTATATATTATATATATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATAACTATA TATTATATATAATATATATATTATATATAATATAACTATATATTATATAT AATATATAG	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3940		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637474	A A	ATTATATA others(536): Show ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATAATATAACTATATATTATATATAATATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG03490.hp2 HG03492.hp1 HG02056.hp2 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0216 a0001c0001t0006g0256 a0001c0001t0006g0261 a0001c0001t0006g0216 a0001c0001t0006g0256 a0001c0001t0006g0261	3	268	0.0112	543	c.73 others(554): Show c.7319_*7320insTTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATATATTATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATAACTATA TATTATATATAATATATATATTATATATAATATAACTATATATTATATAT AATATATAG	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3940		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637474	A A	ATTATATA others(536): Show ATTATATATTATATAACTATATATTATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATAACTATATATTATATATAATATATAATATATA TATTATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATAATATAACTATATATTATATATAATAT ATATATTATATATAATATAACTATATATTATATATAATATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0263 a0001c0001t0006g0263	1	268	0.0037	543	c.73 others(554): Show c.7319_*7320insTTATATATTATATAACTATATATTATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATAACTATATATTATATAT AATATATAATATATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATAATATAACTATA TATTATATATAATATATATATTATATATAATATAACTATATATTATATAT AATATATAG	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3940		chr10	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(536): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGGGGTGGGAGAACGG GGTGAGAGCGGGGTGGGACAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAAC GGGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGA GAACGGGGTGGGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGA ACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAAC GGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGGGAACGGGGTGGGAGCGG GGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGAGAGCGGGG TGGGAGAACGGGGTGGGAGCGGGGTGGGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02922.hp1 HG03540.hp2 HG01106.hp2 HG02922.hp1 HG03540.hp2	a0003 a0003	a0003c0005 a0003c0016 a0003c0005 a0003c0016	a0003c0005t0001 a0003c0005t0011 a0003c0016t0001 a0003c0005t0001 a0003c0005t0011 a0003c0016t0001	a0003c0005t0001g0074 a0003c0005t0011g0004 a0003c0016t0001g0178 a0003c0005t0001g0074 a0003c0005t0011g0004 a0003c0016t0001g0178	3	364	0.0082	543	c.157 others(562): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCTCCCACCCCGCTCTCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGTTCCC CCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCC ACCCCGCTCTCACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCAC CCCGCTCCCACCCCGTTCTCCCACCCCGCTCTCACCCCCACCCCGCTCTC CCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCACCCCGTTCTCCC ACCCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCACCCTGCTCTC CCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCCCACCCCGCTG TCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCC GTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCACCCCGTTCTCC CACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
TAFA5_chr22_48484553_48756932	48620601	A A	ACCCATCC others(536): Show ACCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCAC CATCCACCATCCTATCCACCCACCCACCATCCACCATCCATCCACCACCC CCACATCCATCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCC ACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCC ACCCACCATCCACCATCCATCCACCACCCCCACATCCATCCTATCTACTC ACCCCCATACCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCAC CCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCACCATCCATC CACCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCCTATCC ACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCT ATCCACCCACCCACCATCCACCATCCATCCACCACCCCCACATCCATCCT ATCTACTCACCCCCATACCCATCCTATCCACCCACCCACCATCC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02723.hp2 HG03471.hp2 HG02572.hp2 HG02723.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0025 a0001c0001t0002g0191 a0001c0001t0004g0189 a0001c0001t0002g0025 a0001c0001t0002g0191 a0001c0001t0004g0189	3	258	0.0116	543	c.113 others(562): Show c.113-25935_113-25934insTATCCACCCACCCACCATCCACCATC CATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCCT ATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCA TCCTATCCACCCACCCACCATCCACCATCCATCCACCACCCCCACATCCA TCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCCACCATCCCC CATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCAT CCACCATCCATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATA CCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACC ATCCCCCATCCTATCCACCCACCCACCATCCACCATCCATCCACCACCCC CACATCCATCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCCA CCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCA CCCACCATCCACCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620601	A A	ACCCATCC others(536): Show ACCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCAC CATCCCCCATCCTATCCACCCACCCACCATCCACCATCCATCCACCACCC CCACATCCATCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCC ACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCC ACCCACCATCCACCATCCATCCACCACCCCCACATCCATCCTATCTACTC ACCCCCATACCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCAC CCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCACCATCCATC CACCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCGTATCC ACCCACCCACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCT ATCCACCCACCCACCATCCACCATCCATCCACCACCCCCACATCCATCCT ATCTACTCACCCCCATACCCATCCTATCCACCCACCCACCATCC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02015.hp1 NA19090.hp1 HG01952.hp1 HG02015.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0021 a0001c0001t0001 a0001c0001t0006 a0001c0001t0021	a0001c0001t0001g0100 a0001c0001t0006g0095 a0001c0001t0021g0229 a0001c0001t0001g0100 a0001c0001t0006g0095 a0001c0001t0021g0229	3	258	0.0116	543	c.113 others(562): Show c.113-25942_113-25941insCCCATCCTATCCACCCACCCACCATC CACCATCCATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATAC CCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCA TCCCCCATCCTATCCACCCACCCACCATCCACCATCCATCCACCACCCCC ACATCCATCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCCAC CATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCAC CCACCATCCACCATCCATCCACCACCCCCACATCCATCCTATCTACTCAC CCCCATACCCATCGTATCCACCCACCCACCATCCCCCATCGTATCCACCC ACCCACCATCCCCCATCCTATCCACCCACCCACCATCCACCATCCATCCA CCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCCTATCCAC CCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTAT CCACCCACCCACCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47128195	T T	TCCCTCCA others(536): Show TCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCCCC ATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATC CCCCATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCGCCCCACC CATCCCCCATCCTCCCCTCTGCCCCACCCATCCTCCCCTCTGCCCCACCC ATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCT CCGCCCTACCCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCC ATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCT CCGCCCCACCCATCCCTCTCTCCCCCCCACCCATCCCTCCCTCCGCCCCA CCCATCCCTCCTCCGCCCCACCCACCACCCCTCCGCCCCACCCATCCCCC CTCCCCTCACCCATCCCTCCATCCTCCCTCCACCCCACCCATTCTCCCCT CCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCTC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0054 a0001c0001t0013g0054	1	112	0.0089	543	c.142 others(564): Show c.1425+16598_1425+16599insACCCCACCCATCCCCCATCCTCCC TCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCCCCATCC TCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCCCC ATCCTCCCTCCGCCCCACCCATCCCCCATCCTCCCCTCTGCCCCACCCAT CCTCCCCTCTGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCC GCCCCACCCATCCCTCCCTCCGCCCTACCCATCCTCCTCCGCCCCACCCA CCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCC GCCCCACCCATCCCTCCCTCCGCCCCACCCATCCCTCTCTCCCCCCCACC CATCCCTCCCTCCGCCCCACCCATCCCTCCTCCGCCCCACCCACCACCCC TCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCATCCTCCCTCC ACCCCACCCATTCTCCCCTCCACCCCACCCATCCCCCATCCTCCCTCCAC CCCACCCATCCTCCCCTCC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF3_chr19_1604292_1657615	1629129	C C	CAGAGCTC others(536): Show CAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGT GAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACA GCAGAGCTCACGGGGGTGGGGCAGGAAGGGGACAGCAGAGCTCACAGGGG ATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGA CAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGG GGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGG GACAGTAGAGCTCACAGAGGGTGGGGCGGGAAGGGGACAGCAGAGCTCAC GGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGGAGCGGGA AGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACAGGGGGTGGAGCGGGAAGGGGACAGCAGAGCTCATGGGGATGGGGTGG GAAGGGGACAGCAGAGCTCACGGGTGGGGCGGGAAGGGGACAGA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0073 a0002c0001t0073	a0002c0001t0073g0079 a0002c0001t0073g0079	1	352	0.0028	543	c.299 others(560): Show c.299-1704_299-1703insTCTGTCCCCTTCCCGCCCCACCCGTGAG CTCTGCTGTCCCCTTCCCACCCCATCCCCATGAGCTCTGCTGTCCCCTTC CCGCTCCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTG AGCTCTGCTGTCCCCTTCCCGCTCCACCCCCTGTGAGCTCTGCTGTCCCC TTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCTC TGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTC CCCTTCCCGCCCCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACC CCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGT CCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCTGCCCCA CCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCT GTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCA TCCCCTGTGAGCTCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TECPR1_chr7_98209624_98257232	98243001	T T	TCCATCCA others(536): Show TCCATCCATCCATCCATCCATCCATCCATCCATCCGCACACCCACCCATC TGTCCATCTGCACACACCTTCCATCCATCCACACATATACCCACCTATCC ATCTACCCATGCACTCACCCACCCACTCACTCACCCATCCACACACCCAC CCACACACCCATCCATCCACACACCCACCCACCCATCCATCCACACATCC ACCCACACATCCATCCATCCACCCATCCATACATCCATCTGCACAACCAC CCATCTGTCCATCTGCACATACCTTCCATTCATCCACACATACACCCACC CACCCACTCACCCACCCATCCACACACCCATCCACCCATCCACACACCCA CCCACCCATCCATCCACACATCCACCCACACACCCATCCATCCATCCATC CGCACACCCACCCATCTGTCCATCTGCACACACCTTCCATCCATCCACAC ATATACCCACCTATCCATCTACCCATGCAACCACCCACCCACCCACTCAC CCATCCACACACCCACCCACACACCCATCCATCCACACAAACAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03209.hp1 HG02109.hp1 HG03209.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0041 a0002c0011t0041	a0002c0011t0041g0321 a0002c0011t0041g0322 a0002c0011t0041g0321 a0002c0011t0041g0322	2	346	0.0058	543	c.657 others(558): Show c.657+465_657+466insGTGTTTGTGTGGATGGATGGGTGTGTGGGT GGGTGTGTGGATGGGTGAGTGGGTGGGTGGGTGGTTGCATGGGTAGATGG ATAGGTGGGTATATGTGTGGATGGATGGAAGGTGTGTGCAGATGGACAGA TGGGTGGGTGTGCGGATGGATGGATGGATGGGTGTGTGGGTGGATGTGTG GATGGATGGGTGGGTGGGTGTGTGGATGGGTGGATGGGTGTGTGGATGGG TGGGTGAGTGGGTGGGTGGGTGTATGTGTGGATGAATGGAAGGTATGTGC AGATGGACAGATGGGTGGTTGTGCAGATGGATGTATGGATGGGTGGATGG ATGGATGTGTGGGTGGATGTGTGGATGGATGGGTGGGTGGGTGTGTGGAT GGATGGGTGTGTGGGTGGGTGTGTGGATGGGTGAGTGAGTGGGTGGGTGA GTGCATGGGTAGATGGATAGGTGGGTATATGTGTGGATGGATGGAAGGTG TGTGCAGATGGACAGATGGGTGGGTGTGCGGATGGATGGATGGATGGATG GATGGATGGATGG	TECPR1	ENSG00000205356.10	transcript	ENST00000447648.7	protein_coding	6/25			chr7	TogoVar
TECPR1_chr7_98209624_98257232	98243001	T T	TCCATCCA others(536): Show TCCATCCATCCATCCATCCATCCATCCATCCATCCGCACACCCACCCATC TGTCCATCTGCACACACCTTCCATCCATCCACACATATACCCACCTATCC ATCTACCCATGCACTCACCCACCCACTCACTCACCCATCCACACACCCAC CCACACACCCATCCATCCACACACCCACCCACCCATCCATCCACACATCC ACCCACACATCCATCCATCCACCCATCCATACATCCATCTGCACAACCAC CCATCTGTCCATCTGCACATACCTTCCATTCATCCACACATACACCCACC CACCCACTCACCCACCCATCCACACACCCATCCACCCATCCACACACCCA CCCACCCATCCATCCACACATCCACCCACACACCCATCCATCCATCCATC CGCACACCCACCCATCTGTCCATCTGCACACACCTTCCATCCATCCACAC ATATACCCACCTATCCATCTACCCATGCACCCACCCACCCACCCACTCAC CCATCCACACACCCACCCACACACCCATCCATCCACACAAACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(68): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00735.hp1 HG01074.hp2 HG01099.hp2 HG01192.hp2 HG01256.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01952.hp1 HG02015.hp1 HG02040.hp2 HG02074.hp1 HG02083.hp2 HG02132.hp1 HG02148.hp2 HG02273.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03490.hp1 HG03492.hp1 HG03834.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18943.hp2 NA18947.hp2 NA18951.hp2 NA18952.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp2 NA18970.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18994.hp2 NA18998.hp1 NA19009.hp2 NA19011.hp1 NA19030.hp2 NA19060.hp2 NA19065.hp1 NA19070.hp2 NA19074.hp2 NA19085.hp2 NA19087.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0017 a0001c0018 others(3): Show a0001c0001 a0001c0017 a0001c0018 a0001c0023 a0001c0024 a0003c0005	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(28): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0023 a0001c0001t0030 a0001c0001t0032 a0001c0001t0045 a0001c0001t0048 a0001c0001t0061 a0001c0001t0069 a0001c0001t0070 a0001c0001t0073 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0088 a0001c0001t0114 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0017t0003 a0001c0018t0008 a0001c0023t0008 a0001c0024t0072 a0003c0005t0002	a0001c0001t0003g0028 a0001c0001t0003g0085 a0001c0001t0003g0086 others(65): Show a0001c0001t0003g0028 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0003g0094 a0001c0001t0003g0098 a0001c0001t0003g0100 a0001c0001t0003g0112 a0001c0001t0003g0119 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0138 a0001c0001t0003g0140 a0001c0001t0004g0144 a0001c0001t0005g0101 a0001c0001t0005g0129 a0001c0001t0005g0130 a0001c0001t0005g0131 a0001c0001t0007g0001 a0001c0001t0007g0096 a0001c0001t0007g0113 a0001c0001t0007g0120 a0001c0001t0008g0079 a0001c0001t0008g0084 a0001c0001t0008g0091 a0001c0001t0008g0097 a0001c0001t0008g0099 a0001c0001t0008g0110 a0001c0001t0008g0116 a0001c0001t0008g0121 a0001c0001t0010g0089 a0001c0001t0010g0095 a0001c0001t0010g0114 a0001c0001t0014g0087 a0001c0001t0014g0108 a0001c0001t0014g0143 a0001c0001t0023g0083 a0001c0001t0023g0106 a0001c0001t0023g0107 a0001c0001t0030g0093 a0001c0001t0030g0124 a0001c0001t0032g0111 a0001c0001t0032g0122 a0001c0001t0045g0126 a0001c0001t0048g0092 a0001c0001t0061g0139 a0001c0001t0069g0102 a0001c0001t0070g0081 a0001c0001t0073g0115 a0001c0001t0075g0090 a0001c0001t0076g0117 a0001c0001t0077g0118 a0001c0001t0078g0109 a0001c0001t0079g0017 a0001c0001t0088g0136 a0001c0001t0114g0314 a0001c0001t0118g0318 a0001c0001t0119g0320 a0001c0001t0120g0319 a0001c0017t0003g0137 a0001c0018t0008g0141 a0001c0023t0008g0315 a0001c0024t0072g0142 a0003c0005t0002g0239	71	346	0.2052	543	c.657 others(558): Show c.657+465_657+466insGTGTTTGTGTGGATGGATGGGTGTGTGGGT GGGTGTGTGGATGGGTGAGTGGGTGGGTGGGTGGGTGCATGGGTAGATGG ATAGGTGGGTATATGTGTGGATGGATGGAAGGTGTGTGCAGATGGACAGA TGGGTGGGTGTGCGGATGGATGGATGGATGGGTGTGTGGGTGGATGTGTG GATGGATGGGTGGGTGGGTGTGTGGATGGGTGGATGGGTGTGTGGATGGG TGGGTGAGTGGGTGGGTGGGTGTATGTGTGGATGAATGGAAGGTATGTGC AGATGGACAGATGGGTGGTTGTGCAGATGGATGTATGGATGGGTGGATGG ATGGATGTGTGGGTGGATGTGTGGATGGATGGGTGGGTGGGTGTGTGGAT GGATGGGTGTGTGGGTGGGTGTGTGGATGGGTGAGTGAGTGGGTGGGTGA GTGCATGGGTAGATGGATAGGTGGGTATATGTGTGGATGGATGGAAGGTG TGTGCAGATGGACAGATGGGTGGGTGTGCGGATGGATGGATGGATGGATG GATGGATGGATGG	TECPR1	ENSG00000205356.10	transcript	ENST00000447648.7	protein_coding	6/25			chr7	TogoVar
TECPR1_chr7_98209624_98257232	98243001	T T	TCCATCCA others(536): Show TCCATCCATCCATCCATCCATCCATCCATCCGCACACCCACCCATCTGTC CATCTGCACACACCTTCCATCCATCCACACATATACCCACCTATCCATCT ACCCATGCACTCACCCACCCACTCACTCACCCATCCACACACCCACCCAC ACACCCATCCATCCACACACCCACCCACCCATCCATCCACACATCCACCC ACACATCCATCCATCCACCCATCCATACATCCATCTGCACAACCACCCAT CTGTCCATCTGCACATACCTTCCATTCATCCACACATACACCCACCCACC CACCCACTCACCCACCCATCCACACACCCATCCACCCATCCACACACCCA CCCACCCATCCATCCACACATCCACCCACACACCCATCCATCCATCCATC CGCACACCCACCCATCTGTCCATCTGCACACACCTTCCATCCATCCACAC ATATACCCACCTATCCATCTACCCATGCACCCACCCACCCACCCACTCAC CCATCCACACACCCACCCACACACCCATCCATCCACACAAACAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01255.hp2 HG01928.hp2 others(37): Show HG01192.hp1 HG01255.hp2 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02129.hp2 HG02258.hp1 HG02559.hp1 HG02647.hp2 HG03130.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03831.hp2 HG03942.hp2 NA18943.hp1 NA18944.hp2 NA18950.hp1 NA18957.hp1 NA18964.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19010.hp1 NA19012.hp1 NA19060.hp1 NA19065.hp2 NA19067.hp1 NA19080.hp1 NA19084.hp1 NA19091.hp2 NA21309.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0001c0003 a0001c0008 others(2): Show a0001c0001 a0001c0003 a0001c0008 a0001c0025 a0012c0020	a0001c0001t0009 a0001c0001t0064 a0001c0001t0067 others(16): Show a0001c0001t0009 a0001c0001t0064 a0001c0001t0067 a0001c0001t0068 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0006 a0001c0003t0011 a0001c0003t0025 a0001c0003t0039 a0001c0003t0040 a0001c0003t0101 a0001c0003t0104 a0001c0008t0014 a0001c0008t0016 a0001c0008t0018 a0001c0025t0107 a0012c0020t0094	a0001c0001t0009g0202 a0001c0001t0064g0177 a0001c0001t0067g0206 others(32): Show a0001c0001t0009g0202 a0001c0001t0064g0177 a0001c0001t0067g0206 a0001c0001t0068g0203 a0001c0003t0001g0008 a0001c0003t0001g0009 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0157 a0001c0003t0001g0159 a0001c0003t0002g0003 a0001c0003t0002g0012 a0001c0003t0002g0148 a0001c0003t0002g0150 a0001c0003t0002g0162 a0001c0003t0002g0166 a0001c0003t0002g0176 a0001c0003t0002g0178 a0001c0003t0002g0198 a0001c0003t0005g0158 a0001c0003t0006g0160 a0001c0003t0011g0161 a0001c0003t0025g0149 a0001c0003t0039g0025 a0001c0003t0039g0026 a0001c0003t0040g0024 a0001c0003t0040g0027 a0001c0003t0101g0154 a0001c0003t0104g0209 a0001c0008t0014g0204 a0001c0008t0016g0200 a0001c0008t0016g0201 a0001c0008t0018g0199 a0001c0025t0107g0179 a0012c0020t0094g0205	40	346	0.1156	543	c.657 others(558): Show c.657+465_657+466insGTGTTTGTGTGGATGGATGGGTGTGTGGGT GGGTGTGTGGATGGGTGAGTGGGTGGGTGGGTGGGTGCATGGGTAGATGG ATAGGTGGGTATATGTGTGGATGGATGGAAGGTGTGTGCAGATGGACAGA TGGGTGGGTGTGCGGATGGATGGATGGATGGGTGTGTGGGTGGATGTGTG GATGGATGGGTGGGTGGGTGTGTGGATGGGTGGATGGGTGTGTGGATGGG TGGGTGAGTGGGTGGGTGGGTGGGTGTATGTGTGGATGAATGGAAGGTAT GTGCAGATGGACAGATGGGTGGTTGTGCAGATGGATGTATGGATGGGTGG ATGGATGGATGTGTGGGTGGATGTGTGGATGGATGGGTGGGTGGGTGTGT GGATGGATGGGTGTGTGGGTGGGTGTGTGGATGGGTGAGTGAGTGGGTGG GTGAGTGCATGGGTAGATGGATAGGTGGGTATATGTGTGGATGGATGGAA GGTGTGTGCAGATGGACAGATGGGTGGGTGTGCGGATGGATGGATGGATG GATGGATGGATGG	TECPR1	ENSG00000205356.10	transcript	ENST00000447648.7	protein_coding	6/25			chr7	TogoVar
TECPR1_chr7_98209624_98257232	98243001	T T	TCCATCCA others(536): Show TCCATCCATCCATCCATCCATCCATCCATCCGCACACCCACCCATCTGTC CATCTGCACACACCTTCCATCCATCCACACATATACCCACCTATCCATCT ACCCATGCACTCACCCACCCACTCACTCACCCATCCACACACCCACCCAC ACACCCATCCATCCACACACCCACCCACCCATCCATCCACACATCCACCC ACACATCCATCCATCCACCCATCCATACATCCATCTGCACAACCACCCAT CTGTCCATCTGCACATACCTTCCATTCATCCACACATACACCCACCCACC CACCCACTCACCCACCCATCCACACACCCATCCAGCCATCCACACACCCA CCCACCCATCCATCCACACATCCACCCACACACCCATCCATCCATCCATC CGCACACCCACCCATCTGTCCATCTGCACACACCTTCCATCCATCCACAC ATATACCCACCTATCCATCTACCCATGCACCCACCCACCCACCCACTCAC CCATCCACACACCCACCCACACACCCATCCATCCACACAAACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00544.hp1 others(27): Show HG00140.hp1 HG00423.hp1 HG00544.hp1 HG00673.hp1 HG00738.hp1 HG01123.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG02015.hp2 HG02040.hp1 HG02132.hp2 HG02257.hp1 HG02698.hp1 HG02895.hp1 HG03041.hp1 HG03209.hp2 HG03239.hp2 HG03831.hp1 HG03942.hp1 HG04199.hp2 NA18955.hp1 NA18967.hp1 NA18981.hp2 NA18993.hp2 NA18999.hp1 NA19010.hp2 NA19043.hp1	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0010	a0001c0003 a0001c0012 a0006c0009 others(2): Show a0001c0003 a0001c0012 a0006c0009 a0007c0015 a0010c0022	a0001c0003t0001 a0001c0003t0005 a0001c0003t0006 others(12): Show a0001c0003t0001 a0001c0003t0005 a0001c0003t0006 a0001c0003t0022 a0001c0003t0037 a0001c0003t0093 a0001c0003t0096 a0001c0003t0100 a0001c0003t0102 a0001c0012t0005 a0001c0012t0006 a0006c0009t0002 a0006c0009t0005 a0007c0015t0006 a0010c0022t0022	a0001c0003t0001g0174 a0001c0003t0005g0169 a0001c0003t0005g0171 others(25): Show a0001c0003t0001g0174 a0001c0003t0005g0169 a0001c0003t0005g0171 a0001c0003t0005g0180 a0001c0003t0006g0010 a0001c0003t0006g0173 a0001c0003t0006g0181 a0001c0003t0006g0191 a0001c0003t0006g0192 a0001c0003t0006g0193 a0001c0003t0006g0194 a0001c0003t0006g0316 a0001c0003t0022g0168 a0001c0003t0022g0189 a0001c0003t0022g0190 a0001c0003t0037g0172 a0001c0003t0037g0195 a0001c0003t0093g0182 a0001c0003t0096g0197 a0001c0003t0100g0167 a0001c0003t0102g0196 a0001c0012t0005g0170 a0001c0012t0006g0187 a0006c0009t0002g0175 a0006c0009t0005g0011 a0006c0009t0005g0188 a0007c0015t0006g0183 a0010c0022t0022g0186	30	346	0.0867	543	c.657 others(558): Show c.657+465_657+466insGTGTTTGTGTGGATGGATGGGTGTGTGGGT GGGTGTGTGGATGGGTGAGTGGGTGGGTGGGTGGGTGCATGGGTAGATGG ATAGGTGGGTATATGTGTGGATGGATGGAAGGTGTGTGCAGATGGACAGA TGGGTGGGTGTGCGGATGGATGGATGGATGGGTGTGTGGGTGGATGTGTG GATGGATGGGTGGGTGGGTGTGTGGATGGCTGGATGGGTGTGTGGATGGG TGGGTGAGTGGGTGGGTGGGTGGGTGTATGTGTGGATGAATGGAAGGTAT GTGCAGATGGACAGATGGGTGGTTGTGCAGATGGATGTATGGATGGGTGG ATGGATGGATGTGTGGGTGGATGTGTGGATGGATGGGTGGGTGGGTGTGT GGATGGATGGGTGTGTGGGTGGGTGTGTGGATGGGTGAGTGAGTGGGTGG GTGAGTGCATGGGTAGATGGATAGGTGGGTATATGTGTGGATGGATGGAA GGTGTGTGCAGATGGACAGATGGGTGGGTGTGCGGATGGATGGATGGATG GATGGATGGATGG	TECPR1	ENSG00000205356.10	transcript	ENST00000447648.7	protein_coding	6/25			chr7	TogoVar
THOP1_chr19_2780503_2820807	2818508	T T	TCAGAGCA others(536): Show TCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATA ACTAAGGTCAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGAC CAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGC AGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGA ACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTG ACTAAGGTCAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGAC CAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGC AGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGA ACAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGAT AACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGAC CAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG03195.hp1 HG01891.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0036 a0001c0001t0013g0036	2	370	0.0054	543	c.52 others(554): Show c.5232_*5233insCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGC AGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACCAAGGATAACTAAG GTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGT GACTAAGGTCAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGA CAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAG CAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGGATAACTAAG GTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGT GACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGA CAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATGACTAAGGTCAGAG CAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAG AACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGT GACTAAGAA	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding		2702		chr19	TogoVar
TRAPPC12_chr2_3374694_3484565	3437762	A A	ACCCCCAT others(536): Show ACCCCCATCACCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCC CATCACCCCTGGATTAATCCCCCATCACCCCTGAATTAATCCCCCCATCA CCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTG GATTAATACCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTA ATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATAC CCCATCACCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCAT CACCCCTGGTTTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACC CCAGGATTAATACCCCATCACCCCTGAATTAATCCCCCCACCACCCCTGG ATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTA ATGCCCCATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATACC CCCATCACCCCTGGATTAATACCCCATCACCCCTGAATTAATCC	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0324 a0002c0002t0001g0324	1	344	0.0029	543	c.141 others(562): Show c.1418-6013_1418-6012insCATCACCCCAGGATTAATACCCCATC ACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATCCCCCATCACCCC TGAATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGAT TAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCC CCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCC ATCACCCCAGGATTAATACCCCATCACCCCAGGATTAATACCCCATCACC CCTGGATTAATCCCCCCATCACCCCTGGTTTAATCCCCCAATCACCCCTG GATTAATCCCCCCATCACCCCAGGATTAATACCCCATCACCCCTGAATTA ATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCC CCCCATCACCCCTGGATTAATGCCCCATCACCCCTGGATTAATCCCCCAA TCACCCCTGGATTAATACCCCCATCACCCCTGGATTAATACCCCATCACC CCTGAATTAATCCCCCC	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(536): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATAAA AATTATATATATTATATATATAAAAATTATATATATATTATATATATAAA AATTATATATATATTATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATAAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATATAAATTATATATATATTATATAT ATATAAAAATTATATATATTATATATATATAAAAATTATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0014 a0002c0002t0003g0014	1	272	0.0037	543	c.28 others(554): Show c.2888_*2889insTATATATATATTATATATATATAAAAATTATATA TATATTATATATAAAAATTATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATAAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATATAAATTAT ATATATATTATATATATATAAAAATTATATATATTATATATATATAAAAA TTATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2210		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(536): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATAAA AATTATATATATTATATATATAAAAATTATATATATATTATATATATAAA AATTATATATATATTATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATAAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATATAAATTATATATATTATATATAT ATAAAAATTATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0014 a0002c0002t0003g0014	1	272	0.0037	543	c.28 others(554): Show c.2888_*2889insTATATATATATTATATATATATAAAAATTATATA TATATTATATATAAAAATTATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATAAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATATAAATTAT ATATATTATATATATATAAAAATTATATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2210		chr11	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(536): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTTCTCCCTTATC CCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTC CTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCC CCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCC TCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCT TCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0070 a0002c0003t0002g0070	1	334	0.0030	543	c.657 others(558): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTC CCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCC CCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCT CCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCT CCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCC TCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCT TCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCC TTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(536): Show TTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCT TCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCT TCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTT CCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCCTCCC TCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCC CTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTC CCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTC CTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCC CCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCC TCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCT TCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02683.hp2 HG02809.hp2 others(2): Show HG02615.hp1 HG02683.hp2 HG02809.hp2 HG02970.hp2 NA18906.hp2	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0002c0003 a0014c0017 a0001c0001 a0002c0003 a0014c0017	a0001c0001t0001 a0002c0003t0002 a0014c0017t0001 a0001c0001t0001 a0002c0003t0002 a0014c0017t0001	a0001c0001t0001g0026 a0001c0001t0001g0148 a0002c0003t0002g0080 others(1): Show a0001c0001t0001g0026 a0001c0001t0001g0148 a0002c0003t0002g0080 a0014c0017t0001g0147	5	334	0.0150	543	c.657 others(558): Show c.657+440_657+441insCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCC CTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCT CCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCT CCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCT CCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCC TCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCT TCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCC TTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TWIST2_chr2_238843085_238915534	238870196	A A	ACACACAC others(536): Show ACACACACCACACCCCACACACACCACACCCCACACACACCACACACCCC ACACACACCACACACCCCACACACACCACACCCCACACACACCACACAAA CCACACACCCTACACACCCCACACACACCACACACCACACACACACCACA CCCCATACACACCACACCCCACACACACCACACCCCACACACACCCCACA CACACCACACACCCCACACACACCACACACCCCATACACACCACACCCCA CACACACCCCACACACACCACACACCCCACACACACCACACACCCCACAC ACACCACACCCCACACACACCACACCCCACACACACCACACACCCCACAC ACACCACACCCCACACACACCACACACACCACACACCCCACACACCCCAC ACACACCACACACCCTACACACCCCACACACACCACACCCCACACACACC ACACCCCATACACACCACACACACCACACACACCACACACCCTACACACC CCACACACACCACACACCCCACACACACCACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	338	0.0030	543	c.35 others(562): Show c.35+21469_*35+21470insCCACACCCCACACACACCACACCCCA CACACACCACACACCCCACACACACCACACACCCCACACACACCACACCC CACACACACCACACAAACCACACACCCTACACACCCCACACACACCACAC ACCACACACACACCACACCCCATACACACCACACCCCACACACACCACAC CCCACACACACCCCACACACACCACACACCCCACACACACCACACACCCC ATACACACCACACCCCACACACACCCCACACACACCACACACCCCACACA CACCACACACCCCACACACACCACACCCCACACACACCACACCCCACACA CACCACACACCCCACACACACCACACCCCACACACACCACACACACCACA CACCCCACACACCCCACACACACCACACACCCTACACACCCCACACACAC CACACCCCACACACACCACACCCCATACACACCACACACACCACACACAC CACACACCCTACACACCCCACACACACCACACACCCCACACACACCACAC CCCACACACACCACACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UMAD1_chr7_7635752_7884223	7678876	T T	TATAAATA others(536): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01256.hp2 HG00438.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0070 a0001c0001t0005 a0001c0001t0070	a0001c0001t0005g0077 a0001c0001t0070g0074 a0001c0001t0005g0077 a0001c0001t0070g0074	2	250	0.0080	543	c.82+ others(558): Show c.82+5428_82+5429insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTA TAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTAT ATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAA ATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTA GTTTATAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UNC5A_chr5_176805559_176885898	176872482	C C	CCCCAACA others(536): Show CCCCAACACCACAGCTTCCCATCTGCCCACACTCGCCCCAACACCACAGC TTCCCATCTGCCCACACTCGCCCCAACACCACAGCTTCCCATCTGCCCAC ACTCACCAACACCACAGCTTCCCATCTGCCCACACTCGCCCCAACACCAC AGCTTCCCATCTGTCCACGCTCACCAACACCACAGCTTCCCATCTGCCCA CACTCACCAACACCACAGCTTCACATCTGCCCACACTCACCCCACACCAC AGCTTCCCATCTGCCCACACTCACCCCACACCACAGCCTCACATCTGCCC ACACTCGCCCCACACCACAGCTTCCCATCTGCCCACACTCGCCCCACACC ACAGCTTCCCATCTGCCCACACTCACCAACACCACAGCTTCACATCTGCC CACACCTGCCCCAACACCACAGCTTCCCATCTGCCCACACTCGCCCAACA CCACAGCTTCACATCTGCCCACACTCACCAACACCACAGCTTCCCATCTG CCCACACTCGCCCAACACCACAGCTTCCCATCTGCCCACACTCA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0239 a0001c0001t0006g0239	1	268	0.0037	543	c.887 others(560): Show c.887-1484_887-1483insCAACACCACAGCTTCCCATCTGCCCACA CTCGCCCCAACACCACAGCTTCCCATCTGCCCACACTCGCCCCAACACCA CAGCTTCCCATCTGCCCACACTCACCAACACCACAGCTTCCCATCTGCCC ACACTCGCCCCAACACCACAGCTTCCCATCTGTCCACGCTCACCAACACC ACAGCTTCCCATCTGCCCACACTCACCAACACCACAGCTTCACATCTGCC CACACTCACCCCACACCACAGCTTCCCATCTGCCCACACTCACCCCACAC CACAGCCTCACATCTGCCCACACTCGCCCCACACCACAGCTTCCCATCTG CCCACACTCGCCCCACACCACAGCTTCCCATCTGCCCACACTCACCAACA CCACAGCTTCACATCTGCCCACACCTGCCCCAACACCACAGCTTCCCATC TGCCCACACTCGCCCAACACCACAGCTTCACATCTGCCCACACTCACCAA CACCACAGCTTCCCATCTGCCCACACTCGCCCAACACCACAGCTTCCCAT CTGCCCACACTCACC	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
WDR7_chr18_56646359_57034792	57024554	A A	ACTATGAT others(536): Show ACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGA CAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTACAGAATTTCA CAAATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTAT GTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATA TGTGACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCT CAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTACAGGAT TTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAG TTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGG GATATGTGACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTA TTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTATA GGATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTG	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA19030.hp1 HG03540.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0002 a0001c0001t0003g0003	2	144	0.0139	543	c.427 others(562): Show c.4270-2450_4270-2449insCTATGATAGTTATGTCCCTTACAGGA TTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATA GTTATGTCCCTTACAGAATTTCACAAATCCCTATTCTCAGACAGGAATAG GGATATGTGACTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCT ATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTAC AGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTAT GATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGA ATAGGGATATGTGACTATGATAGTTATGTCCCTTATAGAATTTCACATAT CCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCC TTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGA CTATGATAGTTATGTCCCTTATAGGATTTCACATATCCCTATTCTCAGAC AGGAATAGGGATATGTG	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27			chr18	TogoVar
ZNF554_chr19_2814868_2841735	2818508	T T	TCAGAGCA others(536): Show TCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATA ACTAAGGTCAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGAC CAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGC AGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGA ACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTG ACTAAGGTCAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGAC CAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGC AGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGA ACAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGAT AACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGAC CAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG03195.hp1 HG01891.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0003 a0001c0008t0010 a0001c0001t0003 a0001c0008t0010	a0001c0001t0003g0168 a0001c0008t0010g0167 a0001c0001t0003g0168 a0001c0008t0010g0167	2	410	0.0049	543	c.-15 others(554): Show c.-1564_-1563insCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGC AGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACCAAGGATAACTAAG GTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGT GACTAAGGTCAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGA CAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAG CAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGGATAACTAAG GTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGT GACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGA CAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATGACTAAGGTCAGAG CAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAG AACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGT GACTAAGAA	ZNF554	ENSG00000172006.12	transcript	ENST00000317243.10	protein_coding		1359		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(536): Show GTATATATACATGTATATATATACAAGTATATATATACTTGTATACATAT ATACTATATATATACATATATACACATATATACGTATATATATGTATATA TACATATATACGTGTATATACGTATATACATGTATATACGTATATATACA CATATATACATGTATATATACGTGTATATATACGTATATATACACATATA TACGTGTATATATACGTATATATACACATATATACGTGTATATATACATG TATATATACACATATATACATGTATATATATACGTATATATACATGTATA TATACGTACGTATATATACATGTATATATACGTACGTATATATACATGTA TATATACGTACGTATATATACATGTATATATACGTACGTATATATACATG TATATATACGTACGTATATATATACGTATATATACACATATATACATGTA TATATATACGTATATATACATATATACGTATATATATATACGTATATATA CATATATACGTATATATATACGTATATATACATATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0148 a0001c0005t0001g0148	1	383	0.0026	543	c.-42 others(554): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TACTTGTATACATATATACTATATATATACATATATACACATATATACGT ATATATATGTATATATACATATATACGTGTATATACGTATATACATGTAT ATACGTATATATACACATATATACATGTATATATACGTGTATATATACGT ATATATACACATATATACGTGTATATATACGTATATATACACATATATAC GTGTATATATACATGTATATATACACATATATACATGTATATATATACGT ATATATACATGTATATATACGTACGTATATATACATGTATATATACGTAC GTATATATACATGTATATATACGTACGTATATATACATGTATATATACGT ACGTATATATACATGTATATATACGTACGTATATATATACGTATATATAC ACATATATACATGTATATATATACGTATATATACATATATACGTATATAT ATATACGTATATATACATATATACGTATATATATACGTATATATACATAT ATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919183	A A	ATATATAT others(536): Show ATATATATACAAGTATATATATATACTTGTATACATATATACTATATATA TACATATATACACATATATACGTATATATGTATATATACATATATACATG TATATACGTATATACATGTATATACGTATATATACACATATATACATGTA TATATACGTATATATACACATATATACGTATATATACGTATATATACACA TATATACATGTATATATATACGTATATATACACATATATACATGTATATA TACATGTATATATACGTACGTATATATACATGTATATATACGTACGTATA TATACACATATATACATGTGTATATATGTGTATATATACACATATATACA TGTATATATATATACGTATATATACATATATACGTATATATATATACGTA TATATACATATATACATGTATATATATATACGTATATACACATATATATA CATGTATATATATATACGTATATACACATATATATACATGTATATATATA TATGTGTATATATACACATGTATATATACATATATATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	383	0.0026	543	c.-42 others(554): Show c.-4218_-4217insTATATATACAAGTATATATATATACTTGTATACA TATATACTATATATATACATATATACACATATATACGTATATATGTATAT ATACATATATACATGTATATACGTATATACATGTATATACGTATATATAC ACATATATACATGTATATATACGTATATATACACATATATACGTATATAT ACGTATATATACACATATATACATGTATATATATACGTATATATACACAT ATATACATGTATATATACATGTATATATACGTACGTATATATACATGTAT ATATACGTACGTATATATACACATATATACATGTGTATATATGTGTATAT ATACACATATATACATGTATATATATATACGTATATATACATATATACGT ATATATATATACGTATATATACATATATACATGTATATATATATACGTAT ATACACATATATATACATGTATATATATATACGTATATACACATATATAT ACATGTATATATATATATGTGTATATATACACATGTATATATACATATAT ATACATGTG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4067		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919183	A A	ATATATAT others(536): Show ATATATATACAAGTATATATATATACTTGTATACATATATACTATATATA TACATATATACACATATATACGTATATATGTATATATACATATATACATG TATATACGTATATACATGTATATACGTATATATACACATATATACATGTA TATATACGTATATATACACATATATACGTATATATACGTATATATACACA TATATACATGTATATATATACGTATATATACACATATATACATGTATATA TACATGTATATATACGTACGTATATATACATGTATATATACGTACGTATA TATACACATATATACATGTGTATATATGTGTATATATACACATATATACA TGTATATATATATATACGTATATATACATATATACGTATATATATATACG TATATATACATATATACATGTATATATATATACGTATATACACATATATA TACATGTATATATATATACGTATATACACATATATATACATGTATATATA TATATGTGTATATATACATGTATATATACATATATATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	383	0.0026	543	c.-42 others(554): Show c.-4218_-4217insTATATATACAAGTATATATATATACTTGTATACA TATATACTATATATATACATATATACACATATATACGTATATATGTATAT ATACATATATACATGTATATACGTATATACATGTATATACGTATATATAC ACATATATACATGTATATATACGTATATATACACATATATACGTATATAT ACGTATATATACACATATATACATGTATATATATACGTATATATACACAT ATATACATGTATATATACATGTATATATACGTACGTATATATACATGTAT ATATACGTACGTATATATACACATATATACATGTGTATATATGTGTATAT ATACACATATATACATGTATATATATATATACGTATATATACATATATAC GTATATATATATACGTATATATACATATATACATGTATATATATATACGT ATATACACATATATATACATGTATATATATATACGTATATACACATATAT ATACATGTATATATATATATGTGTATATATACATGTATATATACATATAT ATACATGTG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4067		chr19	TogoVar
ABR_chr17_998519_1184981	1173247	A A	ACATCACC others(537): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACAT CACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCA CCTCAGTCCACCCCCCCGACATCACCTCAGCCCACCCCCCCCACACATCA CCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACGTCACCTCAG CCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACC CCCCGCCCCATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAA CACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACATC ACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCA GCCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGCCCAC CCAACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAACA CATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCCC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0259 a0001c0001t0032g0259	1	337	0.0030	544	c.61+ others(559): Show c.61+6419_61+6420insGGGGGGGGTGGACTGAGGTGATGTGTTGGG TGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGACT GAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTG ATGGGGGGGGTGGGCTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGT TGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTG GACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGA GGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGT GATGTGTTGGGTGGGCTGAGGTGACGTGTTGGGTGGGCTGAGGTGATGTG TTGGGTGGGCTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGATGTCGG GGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGGG GGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGT GGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACTRT2_chr1_3016467_3027903	3016686	A A	AGGGACGG others(537): Show AGGGACGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGAGAGAGGA AGGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAAGG AGGGAGGGAGGGAGGAGGGAGGGAGGAGAGAGGAAAGGAAGAAGGGAGGG AGGGAAGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGG AAGGAGAGAAGGAGAAAGAAGTGAGGAAAGAAGGAGGGAGGGGAGAGAAA ATGGAGGAAGGAGGATGGGAACAGGGGAGGGAGAGAAGGAGGAAGGAAGG AGGGAAGGAGATACGTAGGAAGGAAGGAGGGAAAAAGGAAGAGAGAAAGG GAAGGAAGGAGGGAGGAAGGGAGGAAGGAAGGAGAGAGGGAGGGCAGGAG GAGGGGAGGGAGGGAGGAAGGGAAGAAGGGAGGGGAGAGGAAGAGCAGGA GGAAGGTAAGGAGGGAGGAGGGATGGAGAAGGGAGGGAGGGAGGAAGCGA GGAGGAGAGGGAGGGAGGATGGTGGGAGGGAGGGAGGGGGGAAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	366	0.0027	544	c.-50 others(555): Show c.-5001_-5000insGGGACGGAGGGAGGAGGGAGGAAGGGAAGGAGGG AGGGAGGAGAGAGGAAGGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGA GGGAGGAAGGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGAGGAA AGGAAGAAGGGAGGGAGGGAAGAGGGAGGGAGGAGGAAGGGAGGGAGGGA GGGAGGGAGGAAGGGAAGGAGAGAAGGAGAAAGAAGTGAGGAAAGAAGGA GGGAGGGGAGAGAAAATGGAGGAAGGAGGATGGGAACAGGGGAGGGAGAG AAGGAGGAAGGAAGGAGGGAAGGAGATACGTAGGAAGGAAGGAGGGAAAA AGGAAGAGAGAAAGGGAAGGAAGGAGGGAGGAAGGGAGGAAGGAAGGAGA GAGGGAGGGCAGGAGGAGGGGAGGGAGGGAGGAAGGGAAGAAGGGAGGGG AGAGGAAGAGCAGGAGGAAGGTAAGGAGGGAGGAGGGATGGAGAAGGGAG GGAGGGAGGAAGCGAGGAGGAGAGGGAGGGAGGATGGTGGGAGGGAGGGA GGGGGGAAGC	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4780		chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(537): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATTTATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	544	c.-10 others(555): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATT TTTATATATGATATATAAATATAAATTTTTATATATGATATATAAATATA AATTTTTATATGATATATAAATATAAATTTTTATATATGATATATAAATA TAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATATATA AATATAAATTTTTATTTATGATATATAAATATAAATTTTTATTTATGATA TATAAATATAAATTTTTATATATTTATGATATATAAATATAAATTTTTAT ATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADARB2_chr10_1172313_1742525	1459981	A A	AAACCTGC others(537): Show AAACCTGCCTGTGACCTGAGTTTACCTGCGTAACAAACCTGCCTGTGACC TGAGTTTACCTGTGTAGCAAACCTGCCTGTGACCTGAGTTTACCTGCGTA ACGAACCTGCCTGTGACCTGAGTTTACCTGCGTTACGAACCTGCCTGTGA CCTGAGTTTACCTGTGTAACGAACCTGCCTGTGACCTGAGTTTACCTGCG TAACAAACCTGCCTGTGACCTGAGTTTACCTGTGTAACGAACCTGCCTGT GACCTGAGTTTACCTGTGTAACAAACCTGCCTGTGACCTGAATTTACCTG CGTAACGAACCTGCCTGTGACCTGAGTTTACCTGCGTAACGAACCTGCCT GTGACCTGAGTTTACCTGTGTAACGAACCTGCCTGTGACCTGAGTTTACC TGTGTAACAAACCTGCCTGTGACCTGAATTTACCTGCGTAACAAACCTGC CTGTGACCTGAGTTTACCTGCGTAACGAACCTGCCTGTGACCTGAGTTTA CCTGCGTTACGAACCTGCCTGTGACCTGAGTTTACCTGCGTAACG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0067 a0003c0006t0067	a0003c0006t0067g0080 a0003c0006t0067g0080	1	106	0.0094	544	c.101 others(563): Show c.101-80822_101-80821insCGTTACGCAGGTAAACTCAGGTCACA GGCAGGTTCGTAACGCAGGTAAACTCAGGTCACAGGCAGGTTCGTTACGC AGGTAAACTCAGGTCACAGGCAGGTTTGTTACGCAGGTAAATTCAGGTCA CAGGCAGGTTTGTTACACAGGTAAACTCAGGTCACAGGCAGGTTCGTTAC ACAGGTAAACTCAGGTCACAGGCAGGTTCGTTACGCAGGTAAACTCAGGT CACAGGCAGGTTCGTTACGCAGGTAAATTCAGGTCACAGGCAGGTTTGTT ACACAGGTAAACTCAGGTCACAGGCAGGTTCGTTACACAGGTAAACTCAG GTCACAGGCAGGTTTGTTACGCAGGTAAACTCAGGTCACAGGCAGGTTCG TTACACAGGTAAACTCAGGTCACAGGCAGGTTCGTAACGCAGGTAAACTC AGGTCACAGGCAGGTTCGTTACGCAGGTAAACTCAGGTCACAGGCAGGTT TGCTACACAGGTAAACTCAGGTCACAGGCAGGTTTGTTACGCAGGTAAAC TCAGGTCACAGGCAGGTT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
AHRR_chr5_316714_443285	415410	T T	TGGGAGGC others(537): Show TGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGC CGAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCG GGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGG GCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGT CGGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAG GGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTG GTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCT AGGGGCCGAATCTCCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCC TGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCTGCTGGGAGGC CTAGGGGCCGAATCTCCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTC CCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0135 a0002c0002t0001g0135	1	268	0.0037	544	c.441 others(561): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGG CCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCT GCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGCTGGGA GGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAAT CTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGG GAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGA ATCTCCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGT GGGAGGCCTAGGGGCCGAGTCTGCCTGGTCTGCTGGGAGGCCTAGGGGCC GAATCTCCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCTG CTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGG CCGAATCTGCCTGGTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415410	T T	TGGGAGGC others(537): Show TGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGC CGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCG GGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGG GCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGT CGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGCTGGGAGGCCTAG GGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTG GTCGGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCT AGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCC TGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGC CTAGGGGCCGAGTCTGCCTGGTCGGCTGGGAGGCCTAGGGGCCGAATCTG CCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0164 a0003c0004t0004g0169 a0003c0004t0004g0164 a0003c0004t0004g0169	2	268	0.0075	544	c.441 others(561): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGG CCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCT GCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGA GGCCTAGGGGCCGAGTCTGCCTGGTCGGCTGGGAGGCCTAGGGGCCGAGT CTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGCTGG GAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGA ATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGC GGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCC GAGTCTGCCTGGTCGGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGG GCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGG CCGAATCTGCCTGGTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415410	T T	TGGGAGGC others(537): Show TGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGC CGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGG GGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGG GCGGAGTCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGT CGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAG GGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTG GTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCT AGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCGGAGTCTGCC TGGTGGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGCGGGAGGC CTAGGGGCCGAGTCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTG CCTGGTCGGGCGGGAGGCCTAGGGGCGGAGTCTGCCTGGTGGGGC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0016 a0001c0017t0016	a0001c0017t0016g0176 a0001c0017t0016g0176	1	268	0.0037	544	c.441 others(561): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTGC CTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGG CCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCGGAGTCT GCCTGGTGGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGA GGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAAT CTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGG GAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGA ATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCGGAGTCTGCCTGGTGGGGC GGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGCGGGAGGCCTAGGGGCC GAGTCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGG GCGGGAGGCCTAGGGGCGGAGTCTGCCTGGTGGGGCGGGAGGCCTAGGGG CCGAATCTGCCTGGTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AJAP1_chr1_4649609_4797534	4740369	T T	TGGGGAGT others(537): Show TGGGGAGTGAGTGTTGATGGGGACAGAGTGGGGGAGGGGGAGGGGGAGTG AGTGTTTGATGGGGACAGTGTGGGGGAGGGGGAGGGGGAGTGAGTGAGTG ATGGGGACAGAGTGGGGGAGGGGGAGGGGGAGTGAGTGAGTGATGGGGAC AGAGTGGGGGAGGGGGAGGGGGAGTGAGTGTTGATGGGGACAGAGTGGGG GAGGGGGAGGGGGAGTGAGTGTTTGATGGGGACAGTGTGGGGGAGGGGGA GGGGGAGTGAGTGAGTGATGGGGACAGAGTGGGGGAGGGGGAGGGGGAGT GAGTGAGTGATGGGGACAGAGTGGGGGAGGGGGAGGGGGAGTGAGTGTTT GATGGGGACAGTGTGGGGGAGGGGGAGGGGGAGTGAGTGAGTGATGGGGA CAGAGTGGGGGAGGGGGAGGGGGAGTGAGTGAGTGATGGGGACAGAGTGG GGGAGGGGGAGGGGGAGTGAGTGTTTGATGGGGACAGTGTGGGGGAGGGG GAGGGGGAGTGAGTGAGTGATGGGGACAGAGTGGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0185 a0001c0001t0185	a0001c0001t0185g0254 a0001c0001t0185g0254	1	334	0.0030	544	c.829 others(563): Show c.829+27698_829+27699insGGGGGAGGGGGAGGGGGAGTGAGTGT TTGATGGGGACAGTGTGGGGGAGGGGGAGGGGGAGTGAGTGAGTGATGGG GACAGAGTGGGGGAGGGGGAGGGGGAGTGAGTGAGTGATGGGGACAGAGT GGGGGAGGGGGAGGGGGAGTGAGTGTTGATGGGGACAGAGTGGGGGAGGG GGAGGGGGAGTGAGTGTTTGATGGGGACAGTGTGGGGGAGGGGGAGGGGG AGTGAGTGAGTGATGGGGACAGAGTGGGGGAGGGGGAGGGGGAGTGAGTG AGTGATGGGGACAGAGTGGGGGAGGGGGAGGGGGAGTGAGTGTTTGATGG GGACAGTGTGGGGGAGGGGGAGGGGGAGTGAGTGAGTGATGGGGACAGAG TGGGGGAGGGGGAGGGGGAGTGAGTGAGTGATGGGGACAGAGTGGGGGAG GGGGAGGGGGAGTGAGTGTTTGATGGGGACAGTGTGGGGGAGGGGGAGGG GGAGTGAGTGAGTGATGGGGACAGAGTGGGGGAGGGGGAGGGGGAGTGAG TGTTGATGGGGACAGAGT	AJAP1	ENSG00000196581.11	transcript	ENST00000378191.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK8_chr9_132720578_132883284	132813070	G G	GCTCACTG others(537): Show GCTCACTGCCCTGCACCTACACAGATCACCTCATTCTGTAGCCACCGCAG ACACCCAGGACCAGACCCGCTCACTGCCCTGAGCCTACACAGATCACCTC ATTCTGTGGCCACCGCAGACACCCAGGACCAGACCCGCTCACTGCCCTGC ACCTACACAGATCACCTCATTCTGTGGCCACCGCAGACACCCAGGACCAG ACCCGCTCACTGCCCTGAGCCTACACAGATCACCTCATTCTGTGGCCACC GCAGACACCCAGGACCAGACCCGCTCACTGCCCTGAGCCTACACAGATCA CCTCATTCTGTGGCCACCGCAGACACCCAGGACCAGACCCGCTCACTGCC CTGCACCTACAGAGATCACCTCATTCTGTGGCCACCGCAGACACCCAGGA CCAGACCCGCTCACTGCCCTGCACCTACACAGATCACCTCATTCTGTGGC CACCGCAGACACCCAGGACCAGACCCGCTCACTGCCCTGCACCTACAGAG ATCACCTCATTCTGTGGCCACCGCAGACACCCAGGACCAGACCTC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01978.hp1 HG02027.hp2 others(14): Show HG01192.hp1 HG01978.hp1 HG02027.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02273.hp1 HG02818.hp1 HG03209.hp1 HG03669.hp2 HG06807.hp1 NA18945.hp2 NA18964.hp1 NA18982.hp1 NA19009.hp2 NA19088.hp1 homoSapiens_chm13v2.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0013 a0001c0001 a0007c0013	a0001c0001t0001 a0007c0013t0001 a0001c0001t0001 a0007c0013t0001	a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 others(14): Show a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0007c0013t0001g0118	17	266	0.0639	544	c.979 others(561): Show c.979+1567_979+1568insGAGGTCTGGTCCTGGGTGTCTGCGGTGG CCACAGAATGAGGTGATCTCTGTAGGTGCAGGGCAGTGAGCGGGTCTGGT CCTGGGTGTCTGCGGTGGCCACAGAATGAGGTGATCTGTGTAGGTGCAGG GCAGTGAGCGGGTCTGGTCCTGGGTGTCTGCGGTGGCCACAGAATGAGGT GATCTCTGTAGGTGCAGGGCAGTGAGCGGGTCTGGTCCTGGGTGTCTGCG GTGGCCACAGAATGAGGTGATCTGTGTAGGCTCAGGGCAGTGAGCGGGTC TGGTCCTGGGTGTCTGCGGTGGCCACAGAATGAGGTGATCTGTGTAGGCT CAGGGCAGTGAGCGGGTCTGGTCCTGGGTGTCTGCGGTGGCCACAGAATG AGGTGATCTGTGTAGGTGCAGGGCAGTGAGCGGGTCTGGTCCTGGGTGTC TGCGGTGGCCACAGAATGAGGTGATCTGTGTAGGCTCAGGGCAGTGAGCG GGTCTGGTCCTGGGTGTCTGCGGTGGCTACAGAATGAGGTGATCTGTGTA GGTGCAGGGCAGTGAG	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	10/12			chr9	TogoVar
AK8_chr9_132720578_132883284	132813159	C C	CAGATCAC others(537): Show CAGATCACCTCATTCTGTGGCCACCGCAGACACCCAGGACCAGACCCGCT CACTGCCCTGCACCTACACAGATCACCTCATTCTGTGGCCACCGCAGACA CCCAGGACCAGACCCGCTCACTGCCCTGAGCCTACACAGATCACCTCATT CTGTGGCCACCGCAGACACCCAGGACCAGACCCGCTCACTGCCCTGAGCC TACACAGATCACCTCATTCTGTGGCCACCGCAGACACCCAGGACCAGACC CGCTCACTGCCCTGCACCTACAGAGATCACCTCATTCTGTGGCCACCGCA GACACCCAGGACCAGACCCGCTCACTGCCCTGCACCTACACAGATCACCT CATTCTGTGGCCACCGCAGACACCCAGGACCAGACCCGCTCACTGCCCTG CACCTACAGAGATCACCTCATTCTGTGGCCACCGCAGACACCCAGGACCA GACCTCCTCACTGCCCTGAGCCTACACAGATCACCTCATTCTGTGGCCAC CGCAGACACCCAGGACCAGACCCGCTCACTGCCCTGCACCTACAG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	266	0.0038	544	c.979 others(561): Show c.979+1478_979+1479insCTGTAGGTGCAGGGCAGTGAGCGGGTCT GGTCCTGGGTGTCTGCGGTGGCCACAGAATGAGGTGATCTGTGTAGGCTC AGGGCAGTGAGGAGGTCTGGTCCTGGGTGTCTGCGGTGGCCACAGAATGA GGTGATCTCTGTAGGTGCAGGGCAGTGAGCGGGTCTGGTCCTGGGTGTCT GCGGTGGCCACAGAATGAGGTGATCTGTGTAGGTGCAGGGCAGTGAGCGG GTCTGGTCCTGGGTGTCTGCGGTGGCCACAGAATGAGGTGATCTCTGTAG GTGCAGGGCAGTGAGCGGGTCTGGTCCTGGGTGTCTGCGGTGGCCACAGA ATGAGGTGATCTGTGTAGGCTCAGGGCAGTGAGCGGGTCTGGTCCTGGGT GTCTGCGGTGGCCACAGAATGAGGTGATCTGTGTAGGCTCAGGGCAGTGA GCGGGTCTGGTCCTGGGTGTCTGCGGTGGCCACAGAATGAGGTGATCTGT GTAGGTGCAGGGCAGTGAGCGGGTCTGGTCCTGGGTGTCTGCGGTGGCCA CAGAATGAGGTGATCT	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	10/12			chr9	TogoVar
ALG13_chrX_111676170_111765649	111721071	A A	AAGAAGGA others(537): Show AAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAA TTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGA AGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCT TCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGA AGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCT TCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAA ACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTT CATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTT AATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATA GAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATT CTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	1	191	0.0052	544	c.132 others(559): Show c.1327-42_1327-41insAACTTAATTCTTCCTTCTTCATAGAAGGAA GAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTT CTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAA CTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTC ATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTA ATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAG AAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTC TTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGG AAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCC TTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGA AACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCT TCATAGAAGGAAGA	ALG13	ENSG00000101901.13	transcript	ENST00000394780.8	protein_coding	11/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARHGAP39_chr8_144524179_144690846	144557367	G G	GCTGAACC others(537): Show GCTGAACCTTCGTAGTATTCAGTGGCAAAAGGCTGAACCTTCGTAGTATT CAGAGGCAAAGCCTGAACCTTCGTAGTATTCAGAGGCAAAGGCTGAACCT TCGTAGTATTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGAGGCAAA GGCTGAACCTTCATGGTATTCAGAGGCAAAGGCTGAACCTTCACAGTATT CAGATGCAAAAGCCTGAACCTTCATAGTATTCAGAGGCAAAGGCTGAACC TTCATAGTATTCAGTGGCAAAAGGCTGAACCTTCGTAGTATTCAGAGGCA AAGGCTGAACCTTCGTAGTATTCAGAGGCAAAGCCTGAACCTTCATAGTA TTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGAGGCAAAGGCTGAAC CTTCATAGTATTCAGTGGCAAAAGGCTGAACCTTCCTAGTATTCAGAGGC AAAGGCTGAACCTTCATAGTATTCAGAGGCAAAGCCTGAACCTTCATAGT ATTCAGAGGCAAAGCCTGAACCTTCATAGTATTCAGAGGCAAAGC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	246	0.0041	544	c.513 others(561): Show c.513-1725_513-1724insGCTTTGCCTCTGAATACTATGAAGGTTC AGGCTTTGCCTCTGAATACTATGAAGGTTCAGGCTTTGCCTCTGAATACT ATGAAGGTTCAGCCTTTGCCTCTGAATACTAGGAAGGTTCAGCCTTTTGC CACTGAATACTATGAAGGTTCAGCCTTTGCCTCTGAATACTATGAAGGTT CAGCCTTTGCCTCTGAATACTATGAAGGTTCAGGCTTTGCCTCTGAATAC TACGAAGGTTCAGCCTTTGCCTCTGAATACTACGAAGGTTCAGCCTTTTG CCACTGAATACTATGAAGGTTCAGCCTTTGCCTCTGAATACTATGAAGGT TCAGGCTTTTGCATCTGAATACTGTGAAGGTTCAGCCTTTGCCTCTGAAT ACCATGAAGGTTCAGCCTTTGCCTCTGAATACTATGAAGGTTCAGCCTTT GCCTCTGAATACTACGAAGGTTCAGCCTTTGCCTCTGAATACTACGAAGG TTCAGGCTTTGCCTCTGAATACTACGAAGGTTCAGCCTTTTGCCACTGAA TACTACGAAGGTTCAG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	3/11			chr8	TogoVar
ARID1B_chr6_156772378_157215779	157147499	T T	TCCGTCCC others(537): Show TCCGTCCCCCACCCCCGTCTCCGGCCCTGCCCGCCAGCCCTCACCTCCAC CTCCGGCCCTGCCCTCCATCCCCCACCCCCGCCTCCGGCCCTGCCCTCCA TCCCCCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCTCACCTCCACCTCC GACCCTGACCTCCGTCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGTCCC CCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCC CTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCTCAC CTCCACCTCCAACCCTGACCTCCGTCCCTCACCCCCGCCTCCGGCCCTGC CCTCCGTCCCCCACCCCCGTCTCCGGCCCTGCCCGCCAGCCCTCACCCCC GCCTCCGACCCTGCCGTCCGTCCCCCACCCCAGCCTCCGACCCTGCCCGC CAGCCCTCACCCCCGCCTCCGACCCTGCCCTCCGTCCCTCACCTCCGCCT CCGACCCTGACCTCCGTCCCTCACCCCCGCCTCCGGCCCTGCCCC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02818.hp1 HG02572.hp2 HG02818.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0145 a0002c0003t0002g0027 a0001c0001t0001g0145 a0002c0003t0002g0027	2	150	0.0133	544	c.276 others(563): Show c.2762-1118_2762-1117insCCACCCCCGTCTCCGGCCCTGCCCGC CAGCCCTCACCTCCACCTCCGGCCCTGCCCTCCATCCCCCACCCCCGCCT CCGGCCCTGCCCTCCATCCCCCACCCCCGCCTCCGGCCCTGCCCTCCGTC CCTCACCTCCACCTCCGACCCTGACCTCCGTCCCTCACCCCCGCCTCCGG CCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCCC ACCCCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCT GCCCTCCGTCCCTCACCTCCACCTCCAACCCTGACCTCCGTCCCTCACCC CCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGTCTCCGGCCCTGCCC GCCAGCCCTCACCCCCGCCTCCGACCCTGCCGTCCGTCCCCCACCCCAGC CTCCGACCCTGCCCGCCAGCCCTCACCCCCGCCTCCGACCCTGCCCTCCG TCCCTCACCTCCGCCTCCGACCCTGACCTCCGTCCCTCACCCCCGCCTCC GGCCCTGCCCCCCGTCCC	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
BRSK2_chr11_1384934_1467689	1423659	C C	CTGCCCCA others(537): Show CTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCC GCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG GGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCC GGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCC CCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGT GCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGC TGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0034 a0002c0005t0034	a0002c0005t0034g0055 a0002c0005t0034g0055	1	360	0.0028	544	c.92- others(561): Show c.92-12374_92-12373insGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG GGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCC GGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCC CCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGT GCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGC TGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCC CAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGG CGTTCCGGGTGCCCCA	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
CALN1_chr7_71774491_72417338	72209390	T T	TTCCTTCC others(537): Show TTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCTTTCCTT CCCTCCTTCCCTCTTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCC CTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTT CCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCC CTTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCC TTCCCTCTTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTT CCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCC TTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTT CCCTCCTTCCCTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCC TTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0106 a0001c0001t0010g0106	1	142	0.0070	544	c.244 others(563): Show c.244+69295_244+69296insGGGAAGGAAGGAGGGAAGGAGGGAAG GAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAGGAGGGA AGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAG GAAAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGA AGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAG GAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGA AAGAGGGAAGGAGGGAAAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGA AGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAG GAAGGAGGGAAGGAGGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGA AGGAAAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAAGAGG GAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAAGGGAAGGAGGGAAGGAAA GAGGGAAGGAGGGAAGGA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CCDC183_chr9_136791338_136812741	136802952	C C	CCCAGGGC others(537): Show CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGG GCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCT CAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC GGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0306 a0001c0001t0002g0306	1	398	0.0025	544	c.666 others(559): Show c.666+224_666+225insCGGGGGCCCTCCAGGGCGGGCTCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGG GGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136802964	C C	CCTCTTGG others(537): Show CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGG GGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGC GGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCA GGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCGGGCT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG06807.hp1 HG03130.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0307 a0001c0001t0002g0308	2	398	0.0050	544	c.666 others(559): Show c.666+224_666+225insCGGGGGCCCTCCAGGGCGGGCTCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGG GGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803145	G G	GCCGGGGG others(537): Show GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCTCCAGGGCGGGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	398	0.0025	544	c.666 others(559): Show c.666+360_666+361insCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCGGGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGG GCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCT CAGGGCCCAGGGCC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar

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Search Results (Total: 10000 hits)