Joint Open Genome and Omics Platform (JoGo)

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
RIMBP2_chr12_130391133_130721299	130392495	C C	CATGTGTG others(661): Show CATGTGTGTGTCAGTTACCTGGTGAATATTGAATGTTGTGATGACCCAGT CACCGTCATCACGTGTCCGTCAGTTACCTGGTGAATATTGAATGTTGTGA TGACCCAGTCACCGTCATCATGTGTGTGCATCAGTTACCTGGTGAATATT GAATGTTGTGATGACCCGGTCACTGTCATCACATGTGTGCGTCAGTTACC TGGTGAATACTGAATGTTGTGATTACCCAGTCTCCATCATCACGTGTTTG TGTCAGTTACCTGGTGAATATTCGGTGTGATGACCCAGTCACCGTCATCA CATGTGTCCGTCAGTCACCTGGTGAATACTGAATGTTGTGATGACCCAGT CACCGTCATCATGTGGGTGCATCAGTCACCTGGTGAATATTGAATGTTGT GATGACTCAGTCACCGTCATCACGTGTGTGCGTCAGTTACCTGGTGAATA TTGAATGTTGTGATGACCCAGTCACCATCATCACGTGTGTCCGTCAGTTA CCTGGTGAATATTGAATGTTGTGATGACCCAATCACCATCATCACGTGTG TCCGTCAGTTACCTGTTGAATATTGAATGTTGTGATGACCCAGTCACCAT CATCACGTGTGTCCGTCAGTTACCTGTTGAATATTGAATGTTGTGATGAC CCAGTCACCATCATCACGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0110	1	180	0.0056	668	c.48 others(679): Show c.4865_*4866insACGTGATGATGGTGACTGGGTCATCACAACATTC AATATTCAACAGGTAACTGACGGACACACGTGATGATGGTGACTGGGTCA TCACAACATTCAATATTCAACAGGTAACTGACGGACACACGTGATGATGG TGATTGGGTCATCACAACATTCAATATTCACCAGGTAACTGACGGACACA CGTGATGATGGTGACTGGGTCATCACAACATTCAATATTCACCAGGTAAC TGACGCACACACGTGATGACGGTGACTGAGTCATCACAACATTCAATATT CACCAGGTGACTGATGCACCCACATGATGACGGTGACTGGGTCATCACAA CATTCAGTATTCACCAGGTGACTGACGGACACATGTGATGACGGTGACTG GGTCATCACACCGAATATTCACCAGGTAACTGACACAAACACGTGATGAT GGAGACTGGGTAATCACAACATTCAGTATTCACCAGGTAACTGACGCACA CATGTGATGACAGTGACCGGGTCATCACAACATTCAATATTCACCAGGTA ACTGATGCACACACATGATGACGGTGACTGGGTCATCACAACATTCAATA TTCACCAGGTAACTGACGGACACGTGATGACGGTGACTGGGTCATCACAA CATTCAATATTCACCAGGTAACTGACACACACAT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding		3637		chr12	TogoVar
SBNO2_chr19_1102638_1179268	1164894	G G	GAGGAGGA others(661): Show GAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGA GGAACAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCTAG GACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGAGG AGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAA CAGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCT AAGACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGA GGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AGGAGGAACAGGAGGAGGAGGAGGAATAGGAGGAGGAGGAGGAGGAGGAA CAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGA GGAGGAGGAGGAACAGGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAG GAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACA GGAGGAGGAGGAGGAGGAACAGCAGGAGGAGGAGGCACAGGAGGAGGAGG AGGAGGCACAGGAGGAGGAGGAGGAAGCACAGGAGGAGGAGGAGGAACAG GAGGAGGAGGAGGAGGCAC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0130 a0001c0002t0001g0130	1	203	0.0049	668	c.-12 others(687): Show c.-127+9277_-127+9278insGTGCCTCCTCCTCCTCCTCCTGTTCC TCCTCCTCCTCCTGTGCTTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTC CTCCTGTGCCTCCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCT CCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTTCCTGTTCCTCCTCCTCCTCCTCCT GTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCC TCCTCCTCCTCCTCCTATTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTC CTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCT GTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCTTAGCACCT GTTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTGTTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTC CTGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCCTAGCAC CTGTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCT CCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1164894	G G	GAGGAGGA others(661): Show GAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGA GGAACAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCTAG GACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGAGG AGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAA CAGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCT AAGACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGA GGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AGGAGGAACAGGAGGAGGAGGAGGAATAGGAGGAGGAGGAGGAGGAGGAA CAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGA GGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGG AACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACAG GAGGAGGAGGAGGAGGAACAGCAGGAGGAGGAGGCACAGGAGGAGGAGGA GGAGGCACAGGAGGAGGAGGAGGAAGCACAGGAGGAGGAGGAGGAACAGG AGGAGGGAGGAGGAGGCAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0000 a0000	a0000c0009 a0000c0009	a0000c0009t0001 a0000c0009t0001	a0000c0009t0001g0168 a0000c0009t0001g0168	1	203	0.0049	668	c.-12 others(687): Show c.-127+9277_-127+9278insGTGCCTCCTCCTCCCTCCTCCTGTTC CTCCTCCTCCTCCTGTGCTTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCT CCTCCTGTGCCTCCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCC TCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTC CTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCT GTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCC TCCTCCTCCTCCTCCTATTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTC CTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCT GTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCTTAGCACCT GTTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTGTTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTC CTGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCCTAGCAC CTGTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCT CCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1164894	G G	GAGGAGGA others(661): Show GAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGA GGAACAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCTAG GACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGAGG AGGAGGAAGAGGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAGGAACAGGTGC TAAGACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGG AGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAG GAGGAGGAACAGGAGGAGGAGGAGGAATAGGAGGAGGAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGG AGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAG GAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACA GGAGGAGGAGGAGGAGGAACAGCAGGAGGAGGAGGCACAGGAGGAGGAGG AGGAGGCACAGGAGGAGGAGGAGGAAGCACAGGAGGAGGAGGAGGAACAG GAGGAGGAGGAGGAGGCAC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0021 a0002c0003t0001g0021	1	203	0.0049	668	c.-12 others(687): Show c.-127+9277_-127+9278insGTGCCTCCTCCTCCTCCTCCTGTTCC TCCTCCTCCTCCTGTGCTTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTC CTCCTGTGCCTCCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCT CCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTCCTCCTATTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTG TCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCTTAGCACCTG TTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCCTCTTCCTCCTCCTCCTC CTGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCCTAGCAC CTGTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCT CCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCAMP1_chr5_78355617_78485739	78430203	T T	TTGTTTAT others(661): Show TTGTTTATAAATACTGTGTTTATAAATACTGTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATAAATACTG	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19087.hp2 NA19080.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0212 a0001c0001t0001g0174 a0001c0001t0001g0212	2	332	0.0060	668	c.632 others(685): Show c.632+8244_632+8245insGTTTATAAATACTGTGTTTATAAATACT GTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATT TATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGT ATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAA ATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTA TTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACT GTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATAAATACTGT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SHROOM2_chrX_9781429_9954443	9792159	T T	TAGAATAG others(661): Show TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0005 a0005	a0005c0039 a0005c0039	a0005c0039t0002 a0005c0039t0002	a0005c0039t0002g0015 a0005c0039t0002g0015	1	256	0.0039	668	c.165 others(685): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLAIN1_chr13_77692687_77769229	77703948	T T	TAAAATAT others(661): Show TAAAATATATATACATATGTTTTATAAGTGTATATATACACATATAAAAT ATATATACATATGTTTTATAAGTGTATATATACACATATAAAATATATAT ACATATGTTTTATATGTGTATATATACACATAAAATATATATACATATGT TTTATATGTGTATATATACACATATAAAATATATATACATATGTTTTATA TGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTA TATATACATATAAAACATATGTATATATATTTTATATGTGTATATATACA TATAAAATATATATACATATGTTTTATATGTATATATATACATATAAAAT ATATATACATATAAAATATATACATATAAAATATATATGTTTTATATGTA TATATACATATAAAATATATATACATATGTTTTATATGTATATATATACA TATAAAACATATATACATATGTTTTATATGTATATATACATATAAAACAT ATATACATATGTTTTATATGTATATATATACATATAAATATATATACATA TGTTTTATATGTATATATATACATAGAAAATATATATAATATATATACAT ATGTTTTATATGTATATATATACATAGAAAATATATATACATATGTTTTA TATGTATATATATACATAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA19030.hp1 HG02559.hp2 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0157 a0002c0002t0002g0158 a0002c0002t0001g0157 a0002c0002t0002g0158	2	300	0.0067	668	c.626 others(685): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATATAAAATATATATACAT ATGTTTTATATGTGTATATATACACATAAAATATATATACATATGTTTTA TATGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTG TATATATACACATATAAAATATATATACATATGTTTTATATGTGTATATA TACATATAAAACATATGTATATATATTTTATATGTGTATATATACATATA AAATATATATACATATGTTTTATATGTATATATATACATATAAAATATAT ATACATATAAAATATATACATATAAAATATATATGTTTTATATGTATATA TACATATAAAATATATATACATATGTTTTATATGTATATATATACATATA AAACATATATACATATGTTTTATATGTATATATACATATAAAACATATAT ACATATGTTTTATATGTATATATATACATATAAATATATATACATATGTT TTATATGTATATATATACATAGAAAATATATATAATATATATACATATGT TTTATATGTATATATATACATAGAAAATATATATACATATGTTTTATATG TATATATATACATAGAAAATATATATACATATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(661): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAA GGAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGA GGAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGA GGGGAGGAGGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGG AGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAA GAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGG AGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAG AGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAGG AAGAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	350	0.0029	668	c.624 others(683): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCT CCTCCTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCC TCCTCCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTC TCCTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCC TCCCCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCT CCTCCTCTCTCCTCCTCCCCTCCTCCTCTCCTCCTCCCCTCTTCTCTCCT CCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCC TTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCC TTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCCTTCACTTCCTCCTC CTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTC CTCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCT CCCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATT CTCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCT TCCTCCTCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(661): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATATATAAATATAAAT ATATTATATATTATATAAATATAAATATATTATATATAATATATAATATA AATATATTATATATAATATATAATATAAATATATTATATATAATATATAT AATATATATATTATATATAATATATATAATATATATATTATATATATTAT ATATATTATATATAATATAAATATATTATATATATTATATATAATATAAA TATATTATATATAATATATATAATATAAATATATTATATATAATATATAT AATATAAATATATTATATATATTATATATAATATAAATATATTATATATA TTATATATAATATAAATATATTATATATATTATATATAATATAAATATAT TATATATATTATATATAATATAAATATATTATATATATTATATATAATAT AAATATATTATATATATTATATATAATATAAATATATTATATATATTATA TATAATATAAATATATTATATATATTATATATAATATAAATATATTATAT ATATTATATATAATATAAATATATTATATATATTATATATAATATAAATA TATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0196 a0001c0001t0004g0196	1	346	0.0029	668	c.-70 others(685): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATAATATATATAA TATATTTATATTATATATAATATATATAATATATTTATATTATATATATT ATATATAATATATTTATATTATATATATTATATATAATATATTTATATTA TATATAATATATATAATATATTTATATTATATATAATATATATAATATAT ATAATATATATATTATATATATTATATATAATATATATATTATATATATT ATATATAATATATTTATATTATATATTATATATAATATATTTATATTATA TATTATATATAATATATTTATATTTATATAATATATAATATATTTATATT TATATATAATATATATAATATATTTATATTTATGTATAATATATATAATA TATTTATATTTATGTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(661): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATATATAAATATAAAT ATATTATATATTATATAAATATAAATATATTATATATAATATATAATATA AATATATTATATATAATATATAATATAAATATATTATATATAATATATAT AATATATATATTATATATAATATATATAATATATATATTATATATATTAT ATATATTATATATAATATAAATATATTATATATATTATATATAATATAAA TATATTATATATATTATATATAATATAAATATATTATATATATTATATAT AATATAAATATATTATATATATTATATATAATATAAATATATTATATATA TTATATATAATATAAATATATTATATATATTATATATAATATAAATATAT TATATATATTATATATAATATAAATATATTATATATATTATATATAATAT AAATATATTATATATATTATATATAATATAAATATATTATATATATTATA TATAATATAAATATATTATATATATTATATATAATATAAATATATTATAT ATATTATATATAATATAAATATATTATATATATTATATATAATATAAATA TATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0012 a0001c0001t0017g0012	1	346	0.0029	668	c.-70 others(685): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATAATATATATAA TATATTTATATTATATATAATATATATAATATATTTATATTATATATAAT ATATATAATATATTTATATTATATATAATATATATAATATATTTATATTA TATATAATATATATAATATATTTATATTATATATAATATATATAATATAT ATAATATATATATTATATATATTATATATAATATATATATTATATATATT ATATATAATATATTTATATTATATATTATATATAATATATTTATATTATA TATTATATATAATATATTTATATTTATATAATATATAATATATTTATATT TATATATAATATATATAATATATTTATATTTATGTATAATATATATAATA TATTTATATTTATGTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC44A5_chr1_75197129_75616114	75280137	T T	TATATATA others(661): Show TATATATATTGTATATCTAATATATATTATATATATTTTATATTGTATAT ATAATATATATAGTATATATTATATATTGTATATAATATATATAGTATAT ATTATATATTGTATATAATATATATAGTATATATTATATATTGTATATAT TATATATTGTATATATAATATATATATTGTATATATTATATATTGTATAT ATAATATATATATTGTATATATTATATATTGTATATATAATATATATATT GTATATATTATATATTGTATATATAATATATATATTGTATATATTATATA TTGTATATATAATATATATATTGTATATATTATATATTGTATATATAATA TATATATTGTATATATTATATATTGTATATATAATATATATATTGTATAT ATTATATATTGTATATATAATATATATATTGTATATATTATATATTGTAT ATATAATATATATATTGTATATATTATATATTGTATATATAATATATATA TTGTATATATTATATATTGTATATATAATATATATATTGTATATATTATA TATTGTATATATAATATATATATTGTATATATTATATATTGTATATATAA TATATATATTGTATATATTATATATTGTATATATAATATATATTGTATAT ATTATATATTGTATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	156	0.0064	668	c.176 others(685): Show c.176-5096_176-5095insTATATATACAATATATAATATATACAAT ATATATTATATATACAATATATAATATATACAATATATATATTATATATA CAATATATAATATATACAATATATATATTATATATACAATATATAATATA TACAATATATATATTATATATACAATATATAATATATACAATATATATAT TATATATACAATATATAATATATACAATATATATATTATATATACAATAT ATAATATATACAATATATATATTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAT ATTATATATACAATATATAATATATACAATATATATATTATATATACAAT ATATAATATATACAATATATATATTATATATACAATATATAATATATACA ATATATAATATATACTATATATATTATATACAATATATAATATATACTAT ATATATTATATACAATATATAATATATACTATATATATTATATATACAAT ATAAAATATATATAATATATATTAGATATACAATATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATCATA others(661): Show ATATCATATTTTATATTATAATATATAATATATATTATATTTTATAATAT ATAATATATATTATATTTTATAATATATAATATATTATATTTTATAATAT ATAATATATTATATTTTATAATATATAATATATTATATTTTATAATATAT AATATATTATATTTTATAATATATAATATATTATATTTTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATATAATATATAATATATTATAATATATAATATA TTATATTTTATAATATATAATATATAATATATTATAATATATAATATATT ATATATTATAATATATAATATATTATATATTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATAATATATAATATATTATAT TTTATAATATATAATATATTATATTTTATAATATATAAAATATTATATTT TATAATATATAAAATATTATATTTTATAATATATAAAATATATTATATTT TATAATATATAAAATATATTATATTTTATAATATATAATATATATTATAT TTTATAATATATAATATATATTATATTTTATAATATATAATATATATTAT ATTTTATAATATATAATAT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	340	0.0029	668	c.17 others(687): Show c.174+9791_*174+9792insATATTATATATTATAAAATATAATAT ATATTATATATTATAAAATATAATATATATTATATATTATAAAATATAAT ATATATTATATATTATAAAATATAATATATTTTATATATTATAAAATATA ATATATTTTATATATTATAAAATATAATATTTTATATATTATAAAATATA ATATTTTATATATTATAAAATATAATATATTATATATTATAAAATATAAT ATATTATATATTATAAAATATAATATATTATATATTATAAAATATAATAT ATTATATATTATAATATATAATATATTATATATTATAATATATAATATAT TATATATTATAATATATTATATATTATATATTATAAAATATAATATATTA TATATTATAATATATTATATATTATATATTATAAAATATAATATATTATA TATTATAAAATATAATATATTATATATTATAAAATATAATATATTATATA TTATAAAATATAATATATTATATATTATAAAATATAATATATTATATATT ATAAAATATAATATATTATATATTATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATATTATATATTAT AAAATATAATATATATTATATATTATAATATAAAATATGATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(661): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGA AGGGGGATGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAG GGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGA GGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGG GAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAGGGGAA GGGGGAGGAGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAG GAGGGAGGGGGAGGGGAGGGGAAGGGGGGAGGAGGGAGGGGAGAGGGGAG GGGAGGAGGGAGGGGAGGAGGGAGGGGGAGGGGGGAAGGGGGAAGGGGGA GGAGGGAGGGGAGAGGGGAGGGGGGGAGGGGGAGAGGGGAGAGGAGGGGG AGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	668	c.12 others(679): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTT CCCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTC CCTCCTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTT CCCCCCTTCCCCTCCCCTCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCC CCTCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCC CTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCTC TCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTC CCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCC TCCTCTGCCCTCCCCTCCCCTCTCCCCATCCCCCTTCCCCCTCCCCTCTC CTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTC CCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCC CTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTC CCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(661): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGA AGGGGGATGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAG GGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGA GGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGG GAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAGGGGAA GGGGGAGGAGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAG GAGGGGAGGGGGAGGGGAGGGGAAGGGGGGAGGAGGGAGGGGAGAGGGGA GGGGAGGAGGGAGGGGAGGAGGGAGGGGGAGGGGGGAAGGGGGAAGGGGG AGGAGGGAGGGGAGAGGGGAGGGGGGAGGGGGAGAGGGGAGAGGAGGGGG AGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	668	c.12 others(679): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCC CTCCTCCCCCCTTCCCCTCCCCTCCCCCTCCCCTCCTCCCCCTTCCCCTT CCCCCCTTCCCCTCCCCTCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCC CCTCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCC CTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCTC TCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTC CCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCC TCCTCTGCCCTCCCCTCCCCTCTCCCCATCCCCCTTCCCCCTCCCCTCTC CTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTC CCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCC CTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTC CCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(661): Show GGGAGGGAGGGGAGGGAGGGGAGGGAGGAAGGAAGGGAAGGGAGGGGGGA GGGTGGGGAGGGGAGGGCAGGGCAGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGAGGAGGGAGGGGAGGGCAGAGGAGGGG AAGGGAGAGGGGAGAGGAGGGTGAGGAGGAGAGGAGAGGGGAGGGGGAAG GGGGATGGGGAGAGGGGAGGGAGGGCAGAGGAGGGGAAGGGGAGGGGGAG GGGGAGGGAGGAGGAGGGGAGGGGAGGGGGAGGGGAGGAGGGAGGGGGAG GGATGGGGAAGGGGGAGGAGGGAGGGGAGGGGAGGGGAGGGAGGATGGAG GGGAGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGAAGGGGGGAAGGG GAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGAGGGGAAGGGGGGA GGAGGGAGGGGAGGGGTGGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGG AGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGG AGGGAGGGGAGGAGGGGAGGGGAGGGGGGACAGGGGGAAGGGGGGAGGGG GAGGGGAGGGGAGAGGGGGAGGGGGGAGGGGGAGAGGGGAGAGGAGGGGG AGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	668	c.12 others(679): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCCTCTCCCCTCCCCTCCCCCTCCCCCCTTCC CCCTGTCCCCCCTCCCCTCCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCT CCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTC CCCTTCCCCCCTTCCCCCACCCCTCCCCTCCCTCCTCCCCCCTTCCCCTC CCTCCCCCTCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTCCCCCCTTCC CTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCCCCTCCATCCTCCCTCC CCTCCCCTCCCCTCCCTCCTCCCCCTTCCCCATCCCTCCCCCTCCCTCCT CCCCTCCCCCTCCCCTCCCCTCCTCCTCCCTCCCCCTCCCCCTCCCCTTC CCCTCCTCTGCCCTCCCTCCCCTCTCCCCATCCCCCTTCCCCCTCCCCTC TCCTCTCCTCCTCACCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCT CCCCTCCCTCCTCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCC CTCTCCCCTCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCC CTTCCTTCCTCCCTCCCCTCCCTCCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(661): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGG GGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGG GAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAG GAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAG GGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGG AGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGATGG GGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGGG AGGGGAAGGGGGGAAGGGGAAGGGGGAGGGGGGGGAGGAGGGAGGGGGAG GGGAGGGGAAGGGGGAGGAGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGG GAAGGGGGAGGAGGGAGGGGGAGGGGAGGCGAAGGGGGAGGAGGGAGGGG AGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGGAGGGGGAAGGGGG AAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGGAAGGGGGAAGGGGGAG GAGGGAGGGGAGAGGGGAGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAGG GGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	668	c.12 others(679): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCT TCCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCCTTCCCCCTCC CCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCC CCTTCGCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCC CCTCCCCTCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCT CCCCCCCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCTCCCTC CTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCT CCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCTC TGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCTCCTCTC CTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTC CCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTC CCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCCCCTT CCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SNX9_chr6_157818246_157950077	157827466	C C	CATATATT others(661): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAAATATATTATAGTTTATATAATATATAAAATATATTATAGTTT ATATAATATATAAAATATATTATAGTTTATATAATATATAAAATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA CACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACAT ATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATAT ATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTA TATAATATATAAACATATA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	302	0.0033	668	c.12+ others(683): Show c.12+4020_12+4021insATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATAT ATAAAATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATA TAATATATAAAATATATTATAGTTTATATAATATATACACATATATTATA GTTTATATAATATATACACATATATTATAGTTTATATAATATATACACAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATAT AAACATATATTATAGTTTATATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
SPOCK3_chr4_166728384_167239494	167108995	T T	TATAAAAA others(661): Show TATAAAAATATATATAAATATATATTTATATAAATATATATAAATATATA TTTATATAAAAATATATATAAATATATATTTATATAAAAATATATATAAA TATATATTTATATAAAAATATATATAAATATATATTTATATAAAAATATA TATAAATATATATTTATATATAAATATATATAAATATATATTTATATATA AATATATATAAATATATATTTATATATAAATATATATAAATATATATTTA TATATAAATATATATAAATATATATTTATATATAAATATATATAAATATA TATTTATATATAAATATATATAAATATATATTTATATATAAATATATATA AATATATATTTATATATAAATATATATAAATATATATTTATATATAAATA TATATAAATATATATAAATATATATTTATATAAAAATATATAAAAATATA TATAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAA AATATATATAAATATATATTTATATAAAAATATATATAAATATATATTTA TATAAAAATATATATAAATATATATTTATATAAAAATATATATAAATATA TATTTATATAAAAATATATATAAATATATATTTATATAAAAATATATATA AATATATATTTATATAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	144	0.0069	668	c.190 others(687): Show c.190-46459_190-46458insTTTTATATAAATATATATTTATATAT ATTTTTATATAAATATATATTTATATATATTTTTATATAAATATATATTT ATATATATTTTTATATAAATATATATTTATATATATTTTTATATAAATAT ATATTTATATATATTTTTATATAAATATATATTTATATATATTTTTATAT AAATATATATTTATATATATTTTTATATAAATATATATTTATATATATTT TTATATATTTTTATATAAATATATATTTATATATATTTATATATATTTAT ATATAAATATATATTTATATATATTTATATATAAATATATATTTATATAT ATTTATATATAAATATATATTTATATATATTTATATATAAATATATATTT ATATATATTTATATATAAATATATATTTATATATATTTATATATAAATAT ATATTTATATATATTTATATATAAATATATATTTATATATATTTATATAT AAATATATATTTATATATATTTATATATAAATATATATTTATATATATTT TTATATAAATATATATTTATATATATTTTTATATAAATATATATTTATAT ATATTTTTATATAAATATATATTTATATATATTTTTATATAAATATATAT TTATATATATTTATATAAATATATATTTATATATATTTTTAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SRSF9_chr12_120456672_120474748	120467991	A A	AGCTGAGG others(661): Show AGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGCCGAGGTTGCAGTGAG CGGAGACAGTGACATCGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCG TCTCAAAAAAATAAAGAAAAATAAAAAAAACAAATCCCTCGAACTTTTTC TCTCTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGGATG TAGTGGCGCCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGAG ATTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACTACAGGCGCGCGCCAC CACGCCCAGCTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGT TGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCCGCCCGCCTCGGCC TCCTAAAGTGCTGGGATTGCCACTAGCTTTCTATCAGTAACTCTAAATCC TCAATATCCTGATCTGTAAAATCTGGTTAACCATACAGGCCGGGTGAGGT GGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCTGAGGCGGGCGGATCA CCTCAGGTCGGGAATTCGAGACCAGCCTGACCAACAAGGAGAAACCCCGT CTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTAT AATCCCAGCTACTCAGGAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03225.hp1 HG06807.hp2 others(2): Show HG02965.hp2 HG03225.hp1 HG06807.hp2 NA18522.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	5	444	0.0113	668	c.188 others(685): Show c.188+1430_188+1431insGTCCTGAGTAGCTGGGATTATAGGCATG CGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTT CTCCTTGTTGGTCAGGCTGGTCTCGAATTCCCGACCTGAGGTGATCCGCC CGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCGTGAGCCACCTCACCC GGCCTGTATGGTTAACCAGATTTTACAGATCAGGATATTGAGGATTTAGA GTTACTGATAGAAAGCTAGTGGCAATCCCAGCACTTTAGGAGGCCGAGGC GGGCGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGA AACCCCGTCTCTACTAAAAATACAAAAATGAGCTGGGCGTGGTGGCGCGC GCCTGTAGTCCCAGTTCCTCGGGAGGCTGAGGCAGGAGAATCTCTTGAAC CCGGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCACTACATCCCAGC CTGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAGAGAGAAAAAGTT CGAGGGATTTGTTTTTTTTATTTTTCTTTATTTTTTTGAGACGGAGTTTT GCTCTTGTTGCCCAGGCTGGAGTGCGATGTCACTGTCTCCGCTCACTGCA ACCTCGGCCTCCCAGGTTCAATCGATTCTTCTGCCTCAGC	SRSF9	ENSG00000111786.10	transcript	ENST00000229390.8	protein_coding	1/3			chr12	TogoVar
SRSF9_chr12_120456672_120474748	120467991	A A	AGCTGAGG others(661): Show AGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGCCGAGGTTGCAGTGAG CGGAGACAGTGACATCGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCG TCTCAAAAAAATAAAGAAAAATAAAAAAAACAAATCCCTCGAACTTTTTC TCTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGGATG TAGTGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGAG ATTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACTACAGGCGCGCGCCAC CACGCCCAGCTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGT TGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCCGCCCGCCTCGGCC TCCTAAAGTGCTGGGATTGCCACTAGCTTTCTATCAGTAACTCTAAATCC TCAATATCCTGATCTGTAAAATCTGGTTAACCATACAGGCCGGGTGAGGT GGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCTGAGGCGGGCGGATCA CCTCAGGTCGGGAATTCGAGACCAGCCTGACCAACAAGGAGAAACCCCGT CTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTAT AATCCCAGCTACTCAGGAC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	444	0.0023	668	c.188 others(685): Show c.188+1430_188+1431insGTCCTGAGTAGCTGGGATTATAGGCATG CGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTT CTCCTTGTTGGTCAGGCTGGTCTCGAATTCCCGACCTGAGGTGATCCGCC CGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCGTGAGCCACCTCACCC GGCCTGTATGGTTAACCAGATTTTACAGATCAGGATATTGAGGATTTAGA GTTACTGATAGAAAGCTAGTGGCAATCCCAGCACTTTAGGAGGCCGAGGC GGGCGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGA AACCCCGTCTCTACTAAAAATACAAAAATGAGCTGGGCGTGGTGGCGCGC GCCTGTAGTCCCAGTTCCTCGGGAGGCTGAGGCAGGAGAATCTCTTGAAC CCGGGAGGCGGAGGTTGCAGTGAGCCGAGATGGTGCCACTACATCCCAGC CTGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAGAGAAAAAGTT CGAGGGATTTGTTTTTTTTATTTTTCTTTATTTTTTTGAGACGGAGTTTT GCTCTTGTTGCCCAGGCTGGAGTGCGATGTCACTGTCTCCGCTCACTGCA ACCTCGGCCTCCCAGGTTCAATCGATTCTTCTGCCTCAGC	SRSF9	ENSG00000111786.10	transcript	ENST00000229390.8	protein_coding	1/3			chr12	TogoVar
SRSF9_chr12_120456672_120474748	120467991	A A	AGCTGAGG others(661): Show AGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGCCGAGGTTGCAGTGAG CGGAGACAGTGACATCGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCG TCTCAAAAAAATAAAGAAAAATAAAAAAAACAAATCCCTCGAACTTTTTC TCTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGGATG TAGTGGCGCCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGAG ATTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACTACAGGCGCGCGCCAC CACGCCCAGCTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGT TGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCCGCCCGCCTCGGCC TCCTAAAGTGCTGGGATTGCCACTAGCTTTCTATCAGTAACTCTAAATCC TCAATATCCTGATCTGTAAAATCTGGTTAACCATACAGGCCGGGTGAGGT GGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCTGAGGCGGGCGGATCA CCTCAGGTCGGGAATTCGAGACCAGCCTGACCAACAAGGAGAAACCCCGT CTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTAT AATCCCAGCTACTCAGGAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(419): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0002t0002 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(56): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0002g0030 a0001c0001t0003g0023 a0001c0001t0005g0032 a0001c0001t0006g0036 a0001c0002t0002g0004 a0001c0002t0002g0039 a0001c0003t0001g0013 a0001c0003t0001g0019 a0001c0003t0001g0037 a0001c0005t0001g0045	422	444	0.9505	668	c.188 others(685): Show c.188+1430_188+1431insGTCCTGAGTAGCTGGGATTATAGGCATG CGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTT CTCCTTGTTGGTCAGGCTGGTCTCGAATTCCCGACCTGAGGTGATCCGCC CGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCGTGAGCCACCTCACCC GGCCTGTATGGTTAACCAGATTTTACAGATCAGGATATTGAGGATTTAGA GTTACTGATAGAAAGCTAGTGGCAATCCCAGCACTTTAGGAGGCCGAGGC GGGCGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGA AACCCCGTCTCTACTAAAAATACAAAAATGAGCTGGGCGTGGTGGCGCGC GCCTGTAGTCCCAGTTCCTCGGGAGGCTGAGGCAGGAGAATCTCTTGAAC CCGGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCACTACATCCCAGC CTGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAGAGAAAAAGTT CGAGGGATTTGTTTTTTTTATTTTTCTTTATTTTTTTGAGACGGAGTTTT GCTCTTGTTGCCCAGGCTGGAGTGCGATGTCACTGTCTCCGCTCACTGCA ACCTCGGCCTCCCAGGTTCAATCGATTCTTCTGCCTCAGC	SRSF9	ENSG00000111786.10	transcript	ENST00000229390.8	protein_coding	1/3			chr12	TogoVar
SRSF9_chr12_120456672_120474748	120467991	A A	AGCTGAGG others(661): Show AGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGCCGAGGTTGCAGTGAG CGGAGACAGTGACATCGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCG TCTCAAAAAAATAAAGAAAAATAAAAAAAACAAATCCCTCGAACTTTTTC TCTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGGATG TAGTGGCGCCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGAG ATTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACTACAGGCGCGCGGCAC CACGCCCAGCTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGT TGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCCGCCCGCCTCGGCC TCCTAAAGTGCTGGGATTGCCACTAGCTTTCTATCAGTAACTCTAAATCC TCAATATCCTGATCTGTAAAATCTGGTTAACCATACAGGCCGGGTGAGGT GGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCTGAGGCGGGCGGATCA CCTCAGGTCGGGAATTCGAGACCAGCCTGACCAACAAGGAGAAACCCCGT CTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTAT AATCCCAGCTACTCAGGAC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	444	0.0023	668	c.188 others(685): Show c.188+1430_188+1431insGTCCTGAGTAGCTGGGATTATAGGCATG CGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTT CTCCTTGTTGGTCAGGCTGGTCTCGAATTCCCGACCTGAGGTGATCCGCC CGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCGTGAGCCACCTCACCC GGCCTGTATGGTTAACCAGATTTTACAGATCAGGATATTGAGGATTTAGA GTTACTGATAGAAAGCTAGTGGCAATCCCAGCACTTTAGGAGGCCGAGGC GGGCGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGA AACCCCGTCTCTACTAAAAATACAAAAATGAGCTGGGCGTGGTGCCGCGC GCCTGTAGTCCCAGTTCCTCGGGAGGCTGAGGCAGGAGAATCTCTTGAAC CCGGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCACTACATCCCAGC CTGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAGAGAAAAAGTT CGAGGGATTTGTTTTTTTTATTTTTCTTTATTTTTTTGAGACGGAGTTTT GCTCTTGTTGCCCAGGCTGGAGTGCGATGTCACTGTCTCCGCTCACTGCA ACCTCGGCCTCCCAGGTTCAATCGATTCTTCTGCCTCAGC	SRSF9	ENSG00000111786.10	transcript	ENST00000229390.8	protein_coding	1/3			chr12	TogoVar
SRSF9_chr12_120456672_120474748	120467991	A A	AGCTGAGG others(661): Show AGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGCCGAGGTTGCAGTGAG CGGAGACAGTGACATCGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCG TCTCAAAAAAATAAAGAAAAATAAAAAAAACAAATCCCTCGAACTTTTTC TCTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCATGCTGGGATG TAGTGGCGCCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGAG ATTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACTACAGGCGCGCGCCAC CACGCCCAGCTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGT TGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCCGCCCGCCTCGGCC TCCTAAAGTGCTGGGATTGCCACTAGCTTTCTATCAGTAACTCTAAATCC TCAATATCCTGATCTGTAAAATCTGGTTAACCATACAGGCCGGGTGAGGT GGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCTGAGGCGGGCGGATCA CCTCAGGTCGGGAATTCGAGACCAGCCTGACCAACAAGGAGAAACCCCGT CTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTAT AATCCCAGCTACTCAGGAC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	444	0.0023	668	c.188 others(685): Show c.188+1430_188+1431insGTCCTGAGTAGCTGGGATTATAGGCATG CGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTT CTCCTTGTTGGTCAGGCTGGTCTCGAATTCCCGACCTGAGGTGATCCGCC CGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCGTGAGCCACCTCACCC GGCCTGTATGGTTAACCAGATTTTACAGATCAGGATATTGAGGATTTAGA GTTACTGATAGAAAGCTAGTGGCAATCCCAGCACTTTAGGAGGCCGAGGC GGGCGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGA AACCCCGTCTCTACTAAAAATACAAAAATGAGCTGGGCGTGGTGGCGCGC GCCTGTAGTCCCAGTTCCTCGGGAGGCTGAGGCAGGAGAATCTCTTGAAC CCGGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCACTACATCCCAGC ATGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAGAGAAAAAGTT CGAGGGATTTGTTTTTTTTATTTTTCTTTATTTTTTTGAGACGGAGTTTT GCTCTTGTTGCCCAGGCTGGAGTGCGATGTCACTGTCTCCGCTCACTGCA ACCTCGGCCTCCCAGGTTCAATCGATTCTTCTGCCTCAGC	SRSF9	ENSG00000111786.10	transcript	ENST00000229390.8	protein_coding	1/3			chr12	TogoVar
SRSF9_chr12_120456672_120474748	120467991	A A	AGCTGAGG others(661): Show AGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGCCGAGGTTGCAGTGAG CGGAGACAGTGACATCGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCG TCTCAAAAAAATAAAGCAAAATAAAAAAAACAAATCCCTCGAACTTTTTC TCTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGGATG TAGTGGCGCCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGAG ATTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACTACAGGCGCGCGCCAC CACGCCCAGCTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGT TGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCCGCCCGCCTCGGCC TCCTAAAGTGCTGGGATTGCCACTAGCTTTCTATCAGTAACTCTAAATCC TCAATATCCTGATCTGTAAAATCTGGTTAACCATACAGGCCGGGTGAGGT GGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCTGAGGCGGGCGGATCA CCTCAGGTCGGGAATTCGAGACCAGCCTGACCAACAAGGAGAAACCCCGT CTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTAT AATCCCAGCTACTCAGGAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	444	0.0023	668	c.188 others(685): Show c.188+1430_188+1431insGTCCTGAGTAGCTGGGATTATAGGCATG CGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTT CTCCTTGTTGGTCAGGCTGGTCTCGAATTCCCGACCTGAGGTGATCCGCC CGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCGTGAGCCACCTCACCC GGCCTGTATGGTTAACCAGATTTTACAGATCAGGATATTGAGGATTTAGA GTTACTGATAGAAAGCTAGTGGCAATCCCAGCACTTTAGGAGGCCGAGGC GGGCGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGA AACCCCGTCTCTACTAAAAATACAAAAATGAGCTGGGCGTGGTGGCGCGC GCCTGTAGTCCCAGTTCCTCGGGAGGCTGAGGCAGGAGAATCTCTTGAAC CCGGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCACTACATCCCAGC CTGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAGAGAAAAAGTT CGAGGGATTTGTTTTTTTTATTTTGCTTTATTTTTTTGAGACGGAGTTTT GCTCTTGTTGCCCAGGCTGGAGTGCGATGTCACTGTCTCCGCTCACTGCA ACCTCGGCCTCCCAGGTTCAATCGATTCTTCTGCCTCAGC	SRSF9	ENSG00000111786.10	transcript	ENST00000229390.8	protein_coding	1/3			chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747289	G G	GCTGGGGT others(661): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAA AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0033 a0001c0001t0006g0033	1	314	0.0032	668	c.189 others(685): Show c.189-1024_189-1023insTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAAAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132B_chr12_125181386_125667369	125612926	T T	TTGTATAA others(661): Show TTGTATAAAAATATATATATCATATATATTTATATATTATATAAAAATAT ATATCATATATATTTATATATTATATAAATATATATATCATATATATTTA TATATTATATATTATATATTTATATTTTATTTTTATATTTATATTATATA TATTTTTTATATTTATATTTATATATTATTATATTATATTTATATATTAT ATAAAAATATATATCATATATATTTATATATTATATAAAAATATATATCA TATATATTTATATATTATATAAAAATATATATCATATATATTTATATATT ATATAAAAATATATATCATATATATTTATATTATATAAAAATATATATCA TATATATTTATATTATATAAAAATATATATCATATATATTTATATATTAT ATAAAAATATATATCATATATATTTATATATTATATAAAAATATATATCA TATATATTTATATATTATATAAAAATATATATCATATATATTTATATTAT ATAAAAATATATATCATATATATTTATATATTATATAAAAATATATATCA TATATATTTATATATTATATAAAAATATATATCATATATATTTATATATT ATATAAAAATATATATCATATATATTTATATATTATATAAAAATATATAT GATATATATTTATATTATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0084 a0002c0005t0002g0084	1	128	0.0078	668	c.143 others(689): Show c.1437+28933_1437+28934insGTATAAAAATATATATATCATATA TATTTATATATTATATAAAAATATATATCATATATATTTATATATTATAT AAATATATATATCATATATATTTATATATTATATATTATATATTTATATT TTATTTTTATATTTATATTATATATATTTTTTATATTTATATTTATATAT TATTATATTATATTTATATATTATATAAAAATATATATCATATATATTTA TATATTATATAAAAATATATATCATATATATTTATATATTATATAAAAAT ATATATCATATATATTTATATATTATATAAAAATATATATCATATATATT TATATTATATAAAAATATATATCATATATATTTATATTATATAAAAATAT ATATCATATATATTTATATATTATATAAAAATATATATCATATATATTTA TATATTATATAAAAATATATATCATATATATTTATATATTATATAAAAAT ATATATCATATATATTTATATTATATAAAAATATATATCATATATATTTA TATATTATATAAAAATATATATCATATATATTTATATATTATATAAAAAT ATATATCATATATATTTATATATTATATAAAAATATATATCATATATATT TATATATTATATAAAAATATATATGATATATATTTATATTATAT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM242_chr6_157284025_157328519	157311143	T T	TGTCCGCT others(661): Show TGTCCGCTCACCTGGCCTCATCATAGTGCACGAGTGTGCGCTCACCTACC CTCATCATACTGCCCCAGTGTGCTCTCACGTAGCCTCGTCATAGTGTCTC AGTGTGGGCTCATCTAGCCTCATCATAGGGTCCCAGTGTGCGCTCACCTG GCCTCATCATAGTGCGCCAGTGTGCGCTCATCAAGCCTCATCATAGTGCT CCAGTGTGCGCTCACCAGGCATCATCACTGTCCCAATGGGCGCTCACCTG GCCTCATCATAGTGTGCGCTCACCTACCCTCATCATAGTGGCCCAGTGTG CACTCAACTAGCCTCATTATAGTGTCCCAGTGTGCATTCAACTAGCCTCA TCATAGTGTCCCAGTGCGTGCTCACCTAGCCTCATCATACTGTCCCAGTG TGCGCTCACCTGGCCTCATCATAGTGTCCCAGTGTGCGTTCACACGGCTT CATCATAGTGGCCCAGTGTGCACTCACATGGCCTCATCATAGTGTCCCAG TGTGCACTCACCTGGCCGCATCATAGTGCCCCAGTGTACACTCACCTGGC CTCCTCATAGTGCCCCAGTGAGCACTCACCTAGCCTCATCATAGTGCCCC AGTGTGCACTCACCTAGCCTCATCATAGTGCCCCAGTCTGCACTCAAGCA GCCTCATCAGAGTGTCGCA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00544.hp1 others(28): Show HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00621.hp2 HG01070.hp1 HG01071.hp1 HG02027.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG03831.hp2 HG03834.hp1 NA18940.hp1 NA18943.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp2 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18964.hp1 NA18967.hp2 NA18974.hp2 NA18980.hp1 NA18998.hp1 NA19000.hp2 NA19009.hp2 NA19062.hp2 NA19084.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0030 a0001c0001t0004 a0001c0001t0006 a0001c0001t0030	a0001c0001t0004g0075 a0001c0001t0004g0079 a0001c0001t0004g0081 others(28): Show a0001c0001t0004g0075 a0001c0001t0004g0079 a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0097 a0001c0001t0004g0099 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0006g0076 a0001c0001t0006g0080 a0001c0001t0006g0083 a0001c0001t0006g0084 a0001c0001t0006g0085 a0001c0001t0006g0086 a0001c0001t0006g0087 a0001c0001t0006g0098 a0001c0001t0006g0100 a0001c0001t0006g0101 a0001c0001t0030g0077	31	344	0.0901	668	c.327 others(685): Show c.327+7638_327+7639insTGCGACACTCTGATGAGGCTGCTTGAGT GCAGACTGGGGCACTATGATGAGGCTAGGTGAGTGCACACTGGGGCACTA TGATGAGGCTAGGTGAGTGCTCACTGGGGCACTATGAGGAGGCCAGGTGA GTGTACACTGGGGCACTATGATGCGGCCAGGTGAGTGCACACTGGGACAC TATGATGAGGCCATGTGAGTGCACACTGGGCCACTATGATGAAGCCGTGT GAACGCACACTGGGACACTATGATGAGGCCAGGTGAGCGCACACTGGGAC AGTATGATGAGGCTAGGTGAGCACGCACTGGGACACTATGATGAGGCTAG TTGAATGCACACTGGGACACTATAATGAGGCTAGTTGAGTGCACACTGGG CCACTATGATGAGGGTAGGTGAGCGCACACTATGATGAGGCCAGGTGAGC GCCCATTGGGACAGTGATGATGCCTGGTGAGCGCACACTGGAGCACTATG ATGAGGCTTGATGAGCGCACACTGGCGCACTATGATGAGGCCAGGTGAGC GCACACTGGGACCCTATGATGAGGCTAGATGAGCCCACACTGAGACACTA TGACGAGGCTACGTGAGAGCACACTGGGGCAGTATGATGAGGGTAGGTGA GCGCACACTCGTGCACTATGATGAGGCCAGGTGAGCGGAC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157311143	T T	TGTCCGCT others(661): Show TGTCCGCTCACCTGGCCTCATCATAGTGCACGAGTGTGCGCTCACCTACC CTCATCATACTGCCCCAGTGTGCTCTCACGTAGCCTCGTCATAGTGTCTC AGTGTGGGCTCATCTAGCCTCATCATAGGGTCCCAGTGTGCGCTCACCTG GCCTCATCATAGTGCGCCAGTGTGCGCTCATCAAGCCTCATCATAGTGCT CCAGTGTGCGCTCACCAGGCCTCATCACTGTCCCAATGGGCGCTCACCTG GCCTCATCATAGTGTGCGCTCACCTACCCTCATCATAGTGGCCCAGTGTG CACTCAACTAGCCTCATTATAGTGTCCCAGTGTGCATTCAACTAGCCTCA TCATAGTGTCCCAGTGCGTGCTCACCTAGCCTCATCATACTGTCCCAGTG TGCGCTCACCTGGCCTCATCATAGTGTCCCAGTGTGCGTTCACACGGCTT CATCATAGTGGCCCAGTGTGCACTCACATGGCCTCATCATAGTGTCCCAG TGTGCACTCACCTGGCCGCATCATAGTGCCCCAGTGTACACTCACCTGGC CTCCTCATAGTGCCCCAGTGAGCACTCACCTAGCCTCATCATAGTGCCCC AGTGTGCACTCACCTAGCCTCATCATAGTGCCCCAGTCTGCACTCAAGCA GCCTCATCAGAGTGTCGCA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0062 a0001c0003t0026g0062	1	344	0.0029	668	c.327 others(685): Show c.327+7638_327+7639insTGCGACACTCTGATGAGGCTGCTTGAGT GCAGACTGGGGCACTATGATGAGGCTAGGTGAGTGCACACTGGGGCACTA TGATGAGGCTAGGTGAGTGCTCACTGGGGCACTATGAGGAGGCCAGGTGA GTGTACACTGGGGCACTATGATGCGGCCAGGTGAGTGCACACTGGGACAC TATGATGAGGCCATGTGAGTGCACACTGGGCCACTATGATGAAGCCGTGT GAACGCACACTGGGACACTATGATGAGGCCAGGTGAGCGCACACTGGGAC AGTATGATGAGGCTAGGTGAGCACGCACTGGGACACTATGATGAGGCTAG TTGAATGCACACTGGGACACTATAATGAGGCTAGTTGAGTGCACACTGGG CCACTATGATGAGGGTAGGTGAGCGCACACTATGATGAGGCCAGGTGAGC GCCCATTGGGACAGTGATGAGGCCTGGTGAGCGCACACTGGAGCACTATG ATGAGGCTTGATGAGCGCACACTGGCGCACTATGATGAGGCCAGGTGAGC GCACACTGGGACCCTATGATGAGGCTAGATGAGCCCACACTGAGACACTA TGACGAGGCTACGTGAGAGCACACTGGGGCAGTATGATGAGGGTAGGTGA GCGCACACTCGTGCACTATGATGAGGCCAGGTGAGCGGAC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157311143	T T	TGTCCGCT others(661): Show TGTCCGCTCACCTGGCCTCATCATAGTGCACGAGTGTGCGCTCACCTACC CTCATCATACTGCCCCAGTGTGCTCTCACGTAGCCTCGTCATAGTGTCTC AGTGTGGGCTCATCTAGCCTCATCATAGGGTCCCAGTGTGCGCTCACCTG GCCTCATCATAGTGCGCCAGTGTGCGCTCATCAAGCCTCATCATAGTGCT CCAGTGTGCGCTCACCAGGCCTCATCACTGTCCCCATGGGCGCTCACCTG GCCTCATCATAGTGTGCGCTCACCTACCCTCATCATAGTGGCCCAGTGTG CACTCAACTAGCCTCATTATAGTGTCCCAGTGTGCATTCAACTAGCCTCA TCATAGTGTCCCAGTGCGTGCTCACCTAGCCTCATCATACTGTCCCAGTG TGCGCTCACCTGGCCTCATCATAGTGTCCCAGTGTGCGTTCACACGGCTT CATCATAGTGGCCCAGTGTGCACTCACATGGCCTCATCATAGTGTCCCAG TGTGCACTCACCTGGCCGCATCATAGTGCCCCAGTGTACACTCACCTGGC CTCCTCATAGTGCCCCAGTGAGCACTCACCTAGCCTCATCATAGTGCCCC AGTGTGCACTCACCTAGCCTCATCATAGTGCCCCAGTCTGCACTCAAGCA GCCTCATCAGAGTGTCGCA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01256.hp1 HG01258.hp1 others(7): Show HG00733.hp1 HG01256.hp1 HG01258.hp1 HG01517.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG03654.hp2 NA18906.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0278 a0001c0001t0003g0279 others(6): Show a0001c0001t0003g0016 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0319 a0001c0001t0003g0320	10	344	0.0291	668	c.327 others(685): Show c.327+7638_327+7639insTGCGACACTCTGATGAGGCTGCTTGAGT GCAGACTGGGGCACTATGATGAGGCTAGGTGAGTGCACACTGGGGCACTA TGATGAGGCTAGGTGAGTGCTCACTGGGGCACTATGAGGAGGCCAGGTGA GTGTACACTGGGGCACTATGATGCGGCCAGGTGAGTGCACACTGGGACAC TATGATGAGGCCATGTGAGTGCACACTGGGCCACTATGATGAAGCCGTGT GAACGCACACTGGGACACTATGATGAGGCCAGGTGAGCGCACACTGGGAC AGTATGATGAGGCTAGGTGAGCACGCACTGGGACACTATGATGAGGCTAG TTGAATGCACACTGGGACACTATAATGAGGCTAGTTGAGTGCACACTGGG CCACTATGATGAGGGTAGGTGAGCGCACACTATGATGAGGCCAGGTGAGC GCCCATGGGGACAGTGATGAGGCCTGGTGAGCGCACACTGGAGCACTATG ATGAGGCTTGATGAGCGCACACTGGCGCACTATGATGAGGCCAGGTGAGC GCACACTGGGACCCTATGATGAGGCTAGATGAGCCCACACTGAGACACTA TGACGAGGCTACGTGAGAGCACACTGGGGCAGTATGATGAGGGTAGGTGA GCGCACACTCGTGCACTATGATGAGGCCAGGTGAGCGGAC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157311143	T T	TGTCCGCT others(661): Show TGTCCGCTCACCTGGCCTCATCATAGTGCACGAGTGTGCGCTCACCTACC CTCATCATACTGCCCCAGTGTGCTCTCACGTAGCCTCGTCATAGTGTCTC AGTGTGGGCTCATCTAGCCTCATCATAGGGTCCCAGTGTGCGCTCACCTG GCCTCATCATAGTGCGCCAGTGTGCGCTCATCAAGCCTCATCATAGTGCT CCAGTGTGCGCTCACCAGGCCTCATCACTGTCCCCATGGGCGCTCACCTG GCCTCATCATAGTGTGCGCTCACCTACCCTCATCATAGTGGCCCAGTGTG CACTCAACTAGCCTCATTATAGTGTCCCAGTGTGCATTCAACTAGCCTCA TCATAGTGTCCCAGTGCGTGCTCACCTAGCCTCATCATACTGTCCCAGTG TGCGCTCACCTGGCCTCATCATAGTGTCCCAGTGTGCGTTCACACGGCTT CATCATAGTGGCCCAGTGTGCACTCACATGGCCTCATCATAGTGTCCCAG TGTGCACTCACCTGGCCGCATCATAGTGCCCCAGTGTACACTCACCTGGC CTCCTCATAGTGCCCCAGTGAGCACTCACCTAGCCTCATCATAGTGCCCC AGTGTGCACTCACCTAGCCTCATCATAGTGCCCCAGTCTGTACTCAAGCA GCCTCATCAGAGTGTCGCA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03540.hp1 NA20300.hp1 HG02630.hp1 HG03540.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310	3	344	0.0087	668	c.327 others(685): Show c.327+7638_327+7639insTGCGACACTCTGATGAGGCTGCTTGAGT ACAGACTGGGGCACTATGATGAGGCTAGGTGAGTGCACACTGGGGCACTA TGATGAGGCTAGGTGAGTGCTCACTGGGGCACTATGAGGAGGCCAGGTGA GTGTACACTGGGGCACTATGATGCGGCCAGGTGAGTGCACACTGGGACAC TATGATGAGGCCATGTGAGTGCACACTGGGCCACTATGATGAAGCCGTGT GAACGCACACTGGGACACTATGATGAGGCCAGGTGAGCGCACACTGGGAC AGTATGATGAGGCTAGGTGAGCACGCACTGGGACACTATGATGAGGCTAG TTGAATGCACACTGGGACACTATAATGAGGCTAGTTGAGTGCACACTGGG CCACTATGATGAGGGTAGGTGAGCGCACACTATGATGAGGCCAGGTGAGC GCCCATGGGGACAGTGATGAGGCCTGGTGAGCGCACACTGGAGCACTATG ATGAGGCTTGATGAGCGCACACTGGCGCACTATGATGAGGCCAGGTGAGC GCACACTGGGACCCTATGATGAGGCTAGATGAGCCCACACTGAGACACTA TGACGAGGCTACGTGAGAGCACACTGGGGCAGTATGATGAGGGTAGGTGA GCGCACACTCGTGCACTATGATGAGGCCAGGTGAGCGGAC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM91_chr19_41371533_41389083	41373621	C C	CGCCTGTA others(661): Show CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGTCAG GAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAA ATACAAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCCGC TCAGGATGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGC AGTGAGCCAAGATCTCGTCACTGCACTCTAGCCTGGGCAACAGAGTGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAAAAGATATAGTATGTTTCT TTTCTTTTCTTTTTCTTTTTTTTGTTTGAGACGGAGTCTTGCTCTGTTGC CCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTC CGGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATGGCTGGGACTAC AGACATCCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGAGAG GGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTGTGATCCGC CCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCATCATGCC CGGCCGGTGTGTTTCCTTTCTTTTTTTTTTTTTTTTTTTAATCATTTTTG GCCAGGCACGGTGGCTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	394	0.0025	668	c.-32 others(679): Show c.-3263_-3262insGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG GGCGGATCACGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACC CCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGGCGCC TGTAGTCCCAGCCGCTCAGGATGCTGAGGCGGGAGAATGGCGTGAACCCG GGAGGCAGAGCTTGCAGTGAGCCAAGATCTCGTCACTGCACTCTAGCCTG GGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAAAAG ATATAGTATGTTTCTTTTCTTTTCTTTTTCTTTTTTTTGTTTGAGACGGA GTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCAC TGCAACCTCTGCCTCCGGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCG AATGGCTGGGACTACAGACATCCACCACCACGCCCGGCTAATTTTTGTAT TTTTAGTAGAGAGAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTC CTGACTGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGC ATGAGCCATCATGCCCGGCCGGTGTGTTTCCTTTCTTTTTTTTTTTTTTT TTTTAATCATTTTTGGCCAGGCACGGTGGCTCAT	TMEM91	ENSG00000142046.15	transcript	ENST00000392002.7	protein_coding		2911		chr19	TogoVar
TMEM91_chr19_41371533_41389083	41373621	C C	CGCCTGTA others(661): Show CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGTCAG GAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAA ATACAAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCCGC TCAGGATGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGC AGTGAGCCAAGATCTCGTCACTGCACTCTAGCCTGGGCAACAGAGTGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAAAGAATAAGATATAGTATG TTTCTTTTCTTTTCTTTTTCTTTTTTTTGTTTGAGACGGAGTCTCGCTCT GTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCT GCCTCCGGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCGAATGGCTGGG ACTACAGACATCCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGA GAGAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTGTGA TCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCATC ATGCCCGGCCGGTGTGTTTCCTTTCTTTTTTTTTTTTTTAATCATTTTTG GCCAGGCACGGTGGCTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	394	0.0025	668	c.-32 others(679): Show c.-3263_-3262insGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG GGCGGATCACGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACC CCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGGCGCC TGTAGTCCCAGCCGCTCAGGATGCTGAGGCGGGAGAATGGCGTGAACCCG GGAGGCAGAGCTTGCAGTGAGCCAAGATCTCGTCACTGCACTCTAGCCTG GGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAAAGA ATAAGATATAGTATGTTTCTTTTCTTTTCTTTTTCTTTTTTTTGTTTGAG ACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGA TTCACTGCAACCTCTGCCTCCGGGGTTCAAGTGATTCTCCCGCCTCAGCC TCCCGAATGGCTGGGACTACAGACATCCACCACCACGCCCGGCTAATTTT TGTATTTTTAGTAGAGAGAGGGTTTCACCATGTTGGTCAGGCTGGTCTTG AACTCCTGACTGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTA TAGGCATGAGCCATCATGCCCGGCCGGTGTGTTTCCTTTCTTTTTTTTTT TTTTAATCATTTTTGGCCAGGCACGGTGGCTCAT	TMEM91	ENSG00000142046.15	transcript	ENST00000392002.7	protein_coding		2911		chr19	TogoVar
TMEM91_chr19_41371533_41389083	41373642	G G	GGGAGGCC others(661): Show GGGAGGCCGAGGCGGGCGGATCACGTCAGGAGATCGAGACCATCCTGGCT AACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCG TGGTGGTGGGCGCCTGTAGTCCCAGCCGCTCAGGATGCTGAGGCGGGAGA ATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCTCGTCAC TGCACTCTAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAGAAAAGAAAAAGATATAGTATGTTTCTTTTCTTTTCTTTTTCTT TTTTTTGTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGT GGTGTGATCTCGATTCACTGCAACCTCTGCCTCCGGGTTCAAGTGATTCT CCTGCCTCAGCTCCCGAATGGCTGGGGACTACAGACATCCACCACCACGC CCGGCTAATTTTTGTATTTTTAGTAGAGAGAGGGTTTCACCATGTTGGTC AGGCTGGTCTTGAACTCCTGACTGTGATCCGCCCACCTCGGCCTCCCAAA GTGCTGGGATTATAGGCATGAGCCATCATGCCCGGCCGTGTGTTTCCTTT CTTTTTTTTTTTTTTTTTTAATCATTTTTGGCCAGGCACGGTGGCTCATG CCTATAATCCCAGCACTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0186 a0001c0001t0009g0186	1	394	0.0025	668	c.-32 others(679): Show c.-3242_-3241insGGAGGCCGAGGCGGGCGGATCACGTCAGGAGATC GAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAA AAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCCGCTCAGGA TGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAG CCAAGATCTCGTCACTGCACTCTAGCCTGGGCAACAGAGTGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAGAAAAGAAAAAGATATAGTATGTTTCTTT TCTTTTCTTTTTCTTTTTTTTGTTTGAGACGGAGTCTTGCTCTGTTGCCC AGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTCCG GGTTCAAGTGATTCTCCTGCCTCAGCTCCCGAATGGCTGGGGACTACAGA CATCCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGAGAGGGT TTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTGTGATCCGCCCA CCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCATCATGCCCGG CCGTGTGTTTCCTTTCTTTTTTTTTTTTTTTTTTAATCATTTTTGGCCAG GCACGGTGGCTCATGCCTATAATCCCAGCACTTT	TMEM91	ENSG00000142046.15	transcript	ENST00000392002.7	protein_coding		2890		chr19	TogoVar
TOP1MT_chr8_143304324_143339880	143321658	A A	ACGCACGC others(661): Show ACGCACGCACGCCACGCACACATGCCACACACGCACGCCACACACAGGTA CGCCACACACGCACACCACAAACACAGGCACGCCACACACACGCACGCCA CACGCACGCCACACACACACGCACGCTACACACACACGCACGCTACACAC ACACGCCACACACACAGGCACGCCACACACACAGGCACGCCACACACGCA CGCCACACACGCATGCCACACACGCACGCCACACGCATGCCACACACAGC CACGCCACACACACACGCCACACACACACAGGCACGCCACACACGCACGC CACACACACGCATGCCACACACACGCCACACACACAGGCACGCCACACAC ACAGGCACGCCACACACACACGCCACACACACGCACGCCACACACGCACG CCACACACGCACGCCACACACATGCATGCCACATACGCCCGCCACACACG CACGCCACACAGGCACGCCACACAAGCACGCCACACACACGCACGCCACA CACACACGCACGCCACAAACGAACGCCACACACGCACGCCACACGCACGC CAGCCACACACGCACGCACACACGCACGCCAGCCACACACGCACGCACAC ACGCACGCCACACGCACGCCACACACGAACGCCACACAAACGCCACACAC ACGAATGCCACACGCACAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0001 a0002c0028t0001	a0002c0028t0001g0103 a0002c0028t0001g0103	1	430	0.0023	668	c.961 others(683): Show c.961-273_961-272insGTGTGCGTGTGGCATTCGTGTGTGTGGCGT TTGTGTGGCGTTCGTGTGTGGCGTGCGTGTGGCGTGCGTGTGTGCGTGCG TGTGTGGCTGGCGTGCGTGTGTGCGTGCGTGTGTGGCTGGCGTGCGTGTG GCGTGCGTGTGTGGCGTTCGTTTGTGGCGTGCGTGTGTGTGTGGCGTGCG TGTGTGTGGCGTGCTTGTGTGGCGTGCCTGTGTGGCGTGCGTGTGTGGCG GGCGTATGTGGCATGCATGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGT GGCGTGCGTGTGTGTGGCGTGTGTGTGTGGCGTGCCTGTGTGTGTGGCGT GCCTGTGTGTGTGGCGTGTGTGTGGCATGCGTGTGTGTGGCGTGCGTGTG TGGCGTGCCTGTGTGTGTGTGGCGTGTGTGTGTGGCGTGGCTGTGTGTGG CATGCGTGTGGCGTGCGTGTGTGGCATGCGTGTGTGGCGTGCGTGTGTGG CGTGCCTGTGTGTGTGGCGTGCCTGTGTGTGTGGCGTGTGTGTGTAGCGT GCGTGTGTGTGTAGCGTGCGTGTGTGTGTGGCGTGCGTGTGGCGTGCGTG TGTGTGGCGTGCCTGTGTTTGTGGTGTGCGTGTGTGGCGTACCTGTGTGT GGCGTGCGTGTGTGGCATGTGTGCGTGGCGTGCGTGCG	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
TXNDC16_chr14_52425596_52557505	52530465	T T	TAATAATA others(661): Show TAATAATATAATATATATTATTATATATTATTATATATAATAATATAATA TATATTATTATATATAATTATATATAATAATATAATATATATTATTATAT ATAATTATATATAATAATATAATATATATTATTATATATAATTATATATA ATAATATAATATATATTATTATATATAATAATAATATATATATATTATTA TATATAATTATATATAATAATATAATATATATTATTATATATAATTATAT ATAATAATATAAATATATTATTATATATTATTATATATAATAATATAATA TATATTATATATTATTATATATAATAATATAATATATATTATATATTATT ATATATAATAATATAATATATATTATTATATATTATTATATATAATAATA TAATATATATTATTATATATTATTATATATAATAATATAATATATATTAT TATATATAATAATATAATATATATTATTATATATTATTATATATAATAAT ATAATATATATTATTATATATAATAATATAATATATATTATTATATATTA TTATATATAATAATATAATATATATTATTATATATAATAATATAATATAT ATTATTATATATTATTATATATAATAATATAATATATATTATTATATATT ATTATATATAATAATATAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	238	0.0042	668	c.392 others(685): Show c.392+6253_392+6254insTTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATAATATATAATAATATATATTAT ATTATTATATATAATAATATATATTATATTATTATATATAATAATATATA ATAATATATATTATATTATTATATATAATAATATATATTATATTATTATA TATAATAATATATAATAATATATATTATATTATTATATATAATAATATAT ATTATATTATTATATATAATAATATATAATAATATATATTATATTATTAT ATATAATAATATATAATAATATATATTATATTATTATATATAATAATATA TAATATATATTATATTATTATATATAATAATATATAATATATATTATATT ATTATATATAATAATATATAATAATATATTTATATTATTATATATAATTA TATATAATAATATATATTATATTATTATATATAATTATATATAATAATAT ATATATATTATTATTATATATAATAATATATATTATATTATTATATATAA TTATATATAATAATATATATTATATTATTATATATAATTATATATAATAA TATATATTATATTATTATATATAATTATATATAATAATATATATTATATT ATTATATATAATAATATATAATAATATATATTATATTATT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
TXNDC16_chr14_52425596_52557505	52530465	T T	TAATAATA others(661): Show TAATAATATAATATATATTATTATATATTATTATATATAATAATATAATA TATATTATTATATATAATTATATATAATAATATAATATATATTATTATAT ATAATTATATATAATAATATAATATATATTATTATATATAATTATATATA ATAATATAATATATATTATTATATATAATTATATATAATAATATAATATA TATTATTATATATAATAATAATATATATATATTATTATATATAATTATAT ATAATAATATAATATATATTATTATATATAATTATATATAATAATATAAA TATATTATTATATATTATTATATATAATAATATAATATATATTATATATT ATTATATATAATAATATAATATATATTATATATTATTATATATAATAATA TAATATATATTATTATATATTATTATATATAATAATATAATATATATTAT TATATATAATAATATAATATATATTATTATATATTATTATATATAATAAT ATAATATATATTATTATATATAATAATATAATATATATTATTATATATTA TTATATATAATAATATAATATATATTATTATATATAATAATATAATATAT ATTATTATATATTATTATATATAATAATATAATATATATTATTATATATT ATTATATATAATAATATAA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	238	0.0042	668	c.392 others(685): Show c.392+6253_392+6254insTTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATAATATATAATAATATATATTAT ATTATTATATATAATAATATATATTATATTATTATATATAATAATATATA ATAATATATATTATATTATTATATATAATAATATATATTATATTATTATA TATAATAATATATAATAATATATATTATATTATTATATATAATAATATAT ATTATATTATTATATATAATAATATATAATAATATATATTATATTATTAT ATATAATAATATATAATATATATTATATTATTATATATAATAATATATAA TATATATTATATTATTATATATAATAATATATAATAATATATTTATATTA TTATATATAATTATATATAATAATATATATTATATTATTATATATAATTA TATATAATAATATATATATATTATTATTATATATAATAATATATATTATA TTATTATATATAATTATATATAATAATATATATTATATTATTATATATAA TTATATATAATAATATATATTATATTATTATATATAATTATATATAATAA TATATATTATATTATTATATATAATTATATATAATAATATATATTATATT ATTATATATAATAATATATAATAATATATATTATATTATT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
UBE2E3_chr2_180975605_181068425	181021562	T T	TCCTTCCT others(661): Show TCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTC CTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCT CCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTC CTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCC CTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCT TCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCT CCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTCCCTCC CTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCT TCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCC CTCCCTTCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	338	0.0030	668	c.246 others(687): Show c.246-36120_246-36119insTCCTTCCTTCCTCCCTCCCTCCCTCC CTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCT CCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCC CTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTC CTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCT TCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTC CTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCT TCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTC CTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCT TCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTC CTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCT CCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCC CTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCT	UBE2E3	ENSG00000170035.16	transcript	ENST00000410062.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(661): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0169 a0001c0001t0001g0170	2	408	0.0049	668	c.53+ others(683): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATG TATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGA TAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATG TATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATA GATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGA TGTATCTATCGATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(661): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	408	0.0025	668	c.53+ others(683): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATC TATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGA TAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATA GATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGA TGTATCTATCGATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(661): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAATAT ATATTATAACTATATTAAATATATAAATTATATAATATATATTATATATT GTATATTATATAATTTATATAATATATTATATGTTATATAATATATATTA TATATTGTATATATTATATTATATATTATATATTTTATATATCATATATA GTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATATT TTTATATATTATATATAATATATATAATTATATATCATATATATTTATAT AATATATGATATATAATATATAATATATATTATGTATTATATAATTATAT AAAATATATCATATATTATATATTATAAATAATATATTATATATATTATA TATTATAAATAATATATTATATATATTATATATTATAAATAATATATTAT ATATATTATATATTATAAATAATATATAATATATATTATATATTATAAAT AATATATTATATATTATATTATATATTATAAATAATATATTATATATTAT ATTATATATTATAAATAATATATTATATATTATATTATATATTATAAATA ATATATTATATATTATATTATAAATAATATATTATATATTATAAATAATA TATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0167 a0001c0001t0007g0167	1	302	0.0033	668	c.-1- others(685): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAATATATATTATAACTATATTAAATATATAAATTATATA ATATATATTATATATTGTATATTATATAATTTATATAATATATTATATGT TATATAATATATATTATATATTGTATATATTATATTATATATTATATATT TTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTATA TAGTATACTATATATTTTTATATATTATATATAATATATATAATTATATA TCATATATATTTATATAATATATGATATATAATATATAATATATATTATG TATTATATAATTATATAAAATATATCATATATTATATATTATAAATAATA TATTATATATATTATATATTATAAATAATATATTATATATATTATATATT ATAAATAATATATTATATATATTATATATTATAAATAATATATAATATAT ATTATATATTATAAATAATATATTATATATTATATTATATATTATAAATA ATATATTATATATTATATTATATATTATAAATAATATATTATATATTATA TTATATATTATAAATAATATATTATATATTATATTATAAATAATATATTA TATATTATAAATAATATATTATATATAATATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(661): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAATAT ATATTATAACTATATTAAATATATAAATTATATAATATATATTATATATT GTATATTATATAATTTATATAATATATTATATGTTATATAATATATATTA TATATTGTATATATTATATTATATATTATATATTTTATATATCATATATA GTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATATT TTTATATATTATATATAATATATATAATTATATATCATATATATTTATAT AATATATGATATATAATATATAATATATATTATGTATTATATAATTATAT AAAATATATCATATATTATATATTATAAATAATATATTATATATATTATA TATTATAAATAATATATTATATATATTATATATTATAAATAATATATTAT ATATATTATATATTATAAATAATATATTATATATATTATATATTATAAAT AATATATTATATATTATATTATATATTATAAATAATATATTATATATTAT ATTATATATTATAAATAATATATTATATATTATATTATATATTATAAATA ATATATTATATATTATATTATAAATAATATATTATATATTATAAATAATA TATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03139.hp2 HG03516.hp2 others(1): Show HG02559.hp2 HG03139.hp2 HG03516.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0016 a0001c0001t0009 a0001c0001t0016	a0001c0001t0009g0253 a0001c0001t0009g0254 a0001c0001t0009g0255 others(1): Show a0001c0001t0009g0253 a0001c0001t0009g0254 a0001c0001t0009g0255 a0001c0001t0016g0212	4	302	0.0133	668	c.-1- others(685): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAATATATATTATAACTATATTAAATATATAAATTATATA ATATATATTATATATTGTATATTATATAATTTATATAATATATTATATGT TATATAATATATATTATATATTGTATATATTATATTATATATTATATATT TTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTATA TAGTATACTATATATTTTTATATATTATATATAATATATATAATTATATA TCATATATATTTATATAATATATGATATATAATATATAATATATATTATG TATTATATAATTATATAAAATATATCATATATTATATATTATAAATAATA TATTATATATATTATATATTATAAATAATATATTATATATATTATATATT ATAAATAATATATTATATATATTATATATTATAAATAATATATTATATAT ATTATATATTATAAATAATATATTATATATTATATTATATATTATAAATA ATATATTATATATTATATTATATATTATAAATAATATATTATATATTATA TTATATATTATAAATAATATATTATATATTATATTATAAATAATATATTA TATATTATAAATAATATATTATATATAATATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ADPRHL1_chr13_113394611_113458488	113418971	C C	CTCTTTTC others(662): Show CTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCC TTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTC CCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCC CTTCCCTTCCTTCTTTTCCTTCCTTCACTCCCTCCTTCCTTCCTTCTTCC CTCCCTCCCTCCCTCCCTCTCTCCCTCCCTTCCTGTCTTTTCCCTCCCTC CCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCC TCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTC CCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCT TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTT CCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCTTCAC TCCCTCCTTCCTTCCTTCTTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCC CTTCCTGTCTTTTCCCTCTCTCCCTCCCTTCCTCTTTTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTTCCTTTCTTCCCCT TCCCCTCCCCTTCCCTTCCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03471.hp2 HG03130.hp1 HG03471.hp2	a0001 a0004 a0001 a0004	a0001c0065 a0004c0019 a0001c0065 a0004c0019	a0001c0065t0016 a0004c0019t0098 a0001c0065t0016 a0004c0019t0098	a0001c0065t0016g0079 a0004c0019t0098g0112 a0001c0065t0016g0079 a0004c0019t0098g0112	2	262	0.0076	669	c.106 others(688): Show c.1061+3854_1061+3855insAGGAAGGGAAGGGGAGGGGAAGGGGA AGAAAGGAAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAAAAGAGGAAGGGAGGGAGAGAGGGAAAAGACAGGAAGGGAGGG AGAGAGGGAGGGAGGGAGGGAGGGAAGAAGGAAGGAAGGAGGGAGTGAAG GAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAA AGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGA GGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGA GGGAAAAGACAGGAAGGGAGGGAGAGAGGGAGGGAGGGAGGGAGGGAAGA AGGAAGGAAGGAGGGAGTGAAGGAAGGAAAAGAAGGAAGGGAAGGGGAGG GGAAGGGGAAGAAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGGGA GGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGG GAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAAAGA	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
AHRR_chr5_316714_443285	318220	C C	CCAGCCTC others(662): Show CCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCT CCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCC CTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCC TCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCT CCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCAC CTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCT GCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCC ATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCC CAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTC CCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCTCCCCATCTT TTACCTCCCCCCACCCTCCATCTCCCCCAACCCTGCACCTCCCCCATCCT TCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCT CCCCCTGCACCTCCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA19007.hp1 NA18943.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0062 a0001c0001t0006 a0001c0001t0062	a0001c0001t0006g0037 a0001c0001t0062g0038 a0001c0001t0006g0037 a0001c0001t0062g0038	2	268	0.0075	669	c.-36 others(680): Show c.-3610_-3609insCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCC CCCCGCACCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTT ACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCT TCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCA CCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCC CCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCT CCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCA CCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCAC CCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCA ACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCC CTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGC ACCTCTCCCCATCTTTTACCTCCCCCCACCCTCCATCTCCCCCAACCCTG CACCTCCCCCATCCTTCACCTCCCCCACTCACCCTCCACCTCCCCCCCAC CCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3493		chr5	TogoVar
ARHGAP39_chr8_144524179_144690846	144687461	G G	GGTGAGCA others(662): Show GGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCA CCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACA CTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCAC TTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGAC CACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTG AGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCC CGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTG GCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCGGTGAGCACTTC CCACCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCGTGACCAC ACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGC ACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTG ACCACACATTTACAGTGAGCACTTCCCACCCCGTGACCACACACTAGCGG TGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCAC CCCGTGACCACACATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	246	0.0041	669	c.-18 others(680): Show c.-1858_-1857insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGG TCACGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAG TGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTG TGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTG GGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGC TAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCAC GGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGC TCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGT GGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGA AGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAG TGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG GTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1616		chr8	TogoVar
ATP10B_chr5_160558120_160857211	160652904	T T	TGTATTGC others(662): Show TGTATTGCATATAGATTGTACATACGTGTACATACAATGTATTGCATATA GATTGTACATACGTGTACATACAATGTATTGCATATAGATTGTACATACG TGTACATACAATGTATTGCATATAGATTGTACATACGTGTACATACAATG TATTGCATATAGATTGTACATACGTGTACATACAATGTATTGCATATAGA TTGTACATACGTGTACATACAATGTATTGCATATAGATTGTACATACGTG TACATACAATGTATTGCATATAGATTGTACATACGTGTACATACAATGTA TTGCATATAGATTGTACATACGTGTACATACAATGTATTGCATATAGATT GTACATACGTGTACATACAATGTATTGCATATAGATTGTACATACGTGTA CATACAATGTATTGCATATAGATTGTACATACGTGTACATACAATGTATT GCATATAGATTGTACATACGTGTACATACAATGTATTGCATATAGATTGT ACATACGTGTACAATGTATTGCATATAGATTGTACATACGTGTACATACA ATGTATTGCATATAGATTGTACATACGTGTACATACAATGTATTGCATAT AGATTGTACATACGTGTACATACAATGTATTGCATATAGATTGTACATAC GTGTACATACAATGTATTGC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0017 a0005c0012t0017	a0005c0012t0017g0196 a0005c0012t0017g0196	1	236	0.0042	669	c.676 others(686): Show c.676-3649_676-3648insGCAATACATTGTATGTACACGTATGTAC AATCTATATGCAATACATTGTATGTACACGTATGTACAATCTATATGCAA TACATTGTATGTACACGTATGTACAATCTATATGCAATACATTGTATGTA CACGTATGTACAATCTATATGCAATACATTGTACACGTATGTACAATCTA TATGCAATACATTGTATGTACACGTATGTACAATCTATATGCAATACATT GTATGTACACGTATGTACAATCTATATGCAATACATTGTATGTACACGTA TGTACAATCTATATGCAATACATTGTATGTACACGTATGTACAATCTATA TGCAATACATTGTATGTACACGTATGTACAATCTATATGCAATACATTGT ATGTACACGTATGTACAATCTATATGCAATACATTGTATGTACACGTATG TACAATCTATATGCAATACATTGTATGTACACGTATGTACAATCTATATG CAATACATTGTATGTACACGTATGTACAATCTATATGCAATACATTGTAT GTACACGTATGTACAATCTATATGCAATACATTGTATGTACACGTATGTA CAATCTATATGCAATACATTGTATGTACACGTATGTACAATCTATATGCA ATACATTGTATGTACACGTATGTACAATCTATATGCAATAC	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112787108	C C	CGGGTGTC others(662): Show CGGGTGTCCTGATGCGTAGACTCCTGTGGAGACCTACTTAATCCACACCA GTGTCCTAATGTGTAGACCCCTGTGGAGACCTACTTAATTCACACCAGGT GTCCTGATGTGTAGACCCCTGTGGAGACCTACTTAATTCACACCGGGTGT CCTGATGCGTAGACTCCTGTGGATACCTACTTAATTCACACCGGTGTCCT GATGCGTAGACCCCTGTGGAGACCTACTTAATCCACACCGGGTGTCCTGA TGCGTAGACTCCTGTGGAGACCTACTTAATCCACACCGGGTGTCCTGATG CGTAGACCCCTGTGGAGACCTACTTAATTCACACCAAGTGTCCTGATGCG TAGACCCCTGTGGAGACCTACTTAATCCACACCGGTGTCCTGATGCGTAG ACCCCTGTGGAGACCTACTTAATCCACACCGGGTGTCCTGATGCGTAGAC TCCTGTGGAGACCTACTTAATCCACACCGGGTGTCCTGATGCGTAGACCC CTGTGGAGACCTACTTAATTCACACCAAGTGTCCTGATGCGTAGACCCCT GTGGAGACCTACTTAATCCACACCGGTGTCCTGATGCGTAGACCCCTGTG GAGACCTACTTAATCCACACCGGGTGTCCTGATGCGTAGACCCCTGTGGA GACCTACTTAATCCACACCG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0191 a0001c0002t0012g0191	1	254	0.0039	669	c.162 others(686): Show c.162+1853_162+1854insGTGTCCTGATGCGTAGACTCCTGTGGAG ACCTACTTAATCCACACCAGTGTCCTAATGTGTAGACCCCTGTGGAGACC TACTTAATTCACACCAGGTGTCCTGATGTGTAGACCCCTGTGGAGACCTA CTTAATTCACACCGGGTGTCCTGATGCGTAGACTCCTGTGGATACCTACT TAATTCACACCGGTGTCCTGATGCGTAGACCCCTGTGGAGACCTACTTAA TCCACACCGGGTGTCCTGATGCGTAGACTCCTGTGGAGACCTACTTAATC CACACCGGGTGTCCTGATGCGTAGACCCCTGTGGAGACCTACTTAATTCA CACCAAGTGTCCTGATGCGTAGACCCCTGTGGAGACCTACTTAATCCACA CCGGTGTCCTGATGCGTAGACCCCTGTGGAGACCTACTTAATCCACACCG GGTGTCCTGATGCGTAGACTCCTGTGGAGACCTACTTAATCCACACCGGG TGTCCTGATGCGTAGACCCCTGTGGAGACCTACTTAATTCACACCAAGTG TCCTGATGCGTAGACCCCTGTGGAGACCTACTTAATCCACACCGGTGTCC TGATGCGTAGACCCCTGTGGAGACCTACTTAATCCACACCGGGTGTCCTG ATGCGTAGACCCCTGTGGAGACCTACTTAATCCACACCGGG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
C11orf24_chr11_68256338_68276973	68264684	C C	CTGTCCAT others(662): Show CTGTCCATCCATCCACCCACCCACCCCATCCATCCACCCACTCATCCATC CATCCATCCATCCTTCTATCCATCTACTCATCTGTCCATCCATCCATCCA TCCACCCACCCATCCACCCACCCACTCTTCCATCCATCCATCCACCCACT ATTCTATACATCTACTCATCTGTCCATCCATAGGTTCACTCATCCATCCA TCCATCCATCTACCCACCCACCCATCTATCCACTATTCTATTCATCTATT CATCTGTCCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCA CTCATCCACTTTTCCATCCATCTACTCATCTGTCCATCCACCCACCCATG CATCCATCCATCCACCCACCTGTCCATCCACCCATCCACCCACCCACCCG TCCATCCACCCACCCATCCGTCCATCCACCCATCCATCCACCCACCCACC CACCCATCCATCCATCCATCCACCCACCCACCCATCCACCCACCCACTCA CCCATCCATCCATCCATCCACCCATCCATCCATCCATCCACCCATCCATC CATCCACCCACCCATCTATCCATCCATCCATCCACCCACCCACCCACCCA TACACTCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCATC CATCCACCCACCCACACACT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0073 a0002c0001t0001g0073	1	400	0.0025	669	c.-99 others(684): Show c.-99-819_-99-818insAGTGTGTGGGTGGGTGGATGGATGGGTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGAGTGTATGGGTGGGTG GGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGG TGGATGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGAGTGGGTG GGTGGATGGGTGGGTGGGTGGATGGATGGATGGATGGGTGGGTGGGTGGG TGGATGGATGGGTGGATGGACGGATGGGTGGGTGGATGGACGGGTGGGTG GGTGGATGGGTGGATGGACAGGTGGGTGGATGGATGGATGCATGGGTGGG TGGATGGACAGATGAGTAGATGGATGGAAAAGTGGATGAGTGGATGGATG GATGAATGGATGGATGGATGGATGGATGGATGGACAGATGAATAGATGAA TAGAATAGTGGATAGATGGGTGGGTGGGTAGATGGATGGATGGATGGATG AGTGAACCTATGGATGGACAGATGAGTAGATGTATAGAATAGTGGGTGGA TGGATGGATGGAAGAGTGGGTGGGTGGATGGGTGGGTGGATGGATGGATG GATGGACAGATGAGTAGATGGATAGAAGGATGGATGGATGGATGGATGAG TGGGTGGATGGATGGGGTGGGTGGGTGGATGGATGGACA	C11orf24	ENSG00000171067.11	transcript	ENST00000304271.11	protein_coding	2/3			chr11	TogoVar
CACNA1B_chr9_137872782_138129619	138127006	C C	CCCCCGGC others(662): Show CCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGG GCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCG TGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGG CCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAG GGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCG GCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTG CAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCA AGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGA CACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCG CAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCC AGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGC CCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGG CCCTGCAGTGCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTG AGCAAGAGGGCCCTGCAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 NA18906.hp2 HG02965.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0005 a0001c0003t0005 a0001c0002t0005 a0001c0003t0005	a0001c0002t0005g0024 a0001c0003t0005g0130 a0001c0002t0005g0024 a0001c0003t0005g0130	2	248	0.0081	669	c.50 others(680): Show c.5007_*5008insCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGAC ACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGC AAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCA GCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCC CCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGC CCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTG AGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCC ATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGG GGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGC CGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCA GTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAG AGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACA CCGTGAGCAAGAGGGCCCTGCAGTGCCCCGGCCGCCAGCAGGGGGCGCAA GGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		2388		chr9	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(662): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGGTGGGGTGGGGTGGGGGAGGGTTGGGGTGGGGTGG GGGAGGGGTGGGGTGGGGTGGGGGAAGGGTGTGGGTGGGGCTGGGGAGGG TTGGGGTGGGGGAAGGGTGTGTGTGGGGCTGGGGAGGGGTGGGTAGGGTG GGGGAAGGGTGCGGGTGGGGTTGGGGAGGGGTGGGGTGGAGTGGGGGAAG GGTATGGGTGGGGCTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGT GGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTG GGGGAAGGGTGCAGGTGGGGTGGAGGAGGGGTGGGGGAGGGAGGGATGGG GTGGGGGAAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGT GGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTG GGGGAAGGGTGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGTGG GAGGGGTGGGGTGGGGTGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGGGG TGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG04204.hp1 HG03239.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0098 a0001c0001t0001g0022 a0001c0001t0001g0098	2	284	0.0070	669	c.712 others(686): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCACCCCACCCCTCCCACCCCACCCCACCCCTCCCACCCCA CCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCCCAC CCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTC CCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCATCCC TCCCTCCCCCACCCCTCCTCCACCCCACCTGCACCCTTCCCCCACCCCAC CCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCTCC CCCTCCCACCCCACCCCACCCCTCCCCAGCCCCACCCATACCCTTCCCCC ACTCCACCCCACCCCTCCCCAACCCCACCCGCACCCTTCCCCCACCCTAC CCACCCCTCCCCAGCCCCACACACACCCTTCCCCCACCCCAACCCTCCCC AGCCCCACCCACACCCTTCCCCCACCCCACCCCACCCCTCCCCCACCCCA CCCCAACCCTCCCCCACCCCACCCCACCCCTCCCCCACCCCACCCCAACC CTCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCCAC CCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CECR2_chr22_17364460_17563151	17524554	G G	GGCTAATT others(662): Show GGCTAATTTTTTGTATTGTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTTTTCTG TTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTTTCTTA GATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATAACAGA TCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATAAGTGT ATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGATTTGGC TTTTTTAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTGGCTAA GAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAAAGTTA CTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCC CAGGCTGGAGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCC CGGGTTCTCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCACCCACTACCACGCCCA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0271 a0001c0001t0010g0271	1	324	0.0031	669	c.110 others(686): Show c.1108+299_1108+300insGTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTT TTCTGTTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTT TCTTAGATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATA ACAGATCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATA AGTGTATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGAT TTGGCTTTTTTAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTG GCTAAGAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAA AGTTACTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTG TCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCG CATCCCGGGTTCTCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCACCCACTACCACGCCCAGCTAATTTTTTGTATT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar

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Search Results (Total: 10000 hits)