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
TCF3_chr19_1604292_1657615	1629080	G G	GGTGGGAA others(608): Show GGTGGGAAGCGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACA GCAGAGCTCATGGGGATGGGGAGGGAAGGGGACAGCAGAGCTCACAGGGG GTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGG ACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACAGG GGTGGGGCGGGAAGGGGACAGCAGAGCTCATGGGGATGGGGCGGGAAGGG GACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCAT GGGGATGGGGAGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCT CACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGTGGG AAGGGGACAGCAGAGCTCACAGGGGTGGGGCGGGAAGGGGACAGCAGAGC TCATGGGGATGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCG GGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGA GCTCACAGGGGGTGGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0102 a0001c0004t0102	a0001c0004t0102g0344 a0001c0004t0102g0344	1	352	0.0028	615	c.299 others(632): Show c.299-1655_299-1654insTCCACCCCCTGTGAGCTCTGCTGTCCCC TTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCC GTGAGCTCTGCTGTCCCCTTCCCGCCCCATCCCCATGAGCTCTGCTGTCC CCTTCCCGCCCCACCCCTGTGAGCTCTGCTGTCCCCTTCCCACCTCACCC CCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTC CCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACC CCCTGTGAGCTCTGCTGTCCCCTTCCCTCCCCATCCCCATGAGCTCTGCT GTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCC CATCCCCATGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCTGTGAGCTCT GCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCC TCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCT CTGCTGTCCCCTTCCCTCCCCATCCCCATGAGCTCTGCTGTCCCCTTCCC GCCTCATCCCCTGTGAGCTCTGCTGTCCGCTTCCCAC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
THBS2_chr6_169210785_169258846	169242951	C C	CCCACCGC others(608): Show CCCACCGCTCCCACCTTCCCACCTTCCCATCTTCCCATCTTCCCACCTTC CCACCACTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTC CCACATTCCCACCTTCCCACATTCCCACCTTCCCACCACTCCCACCTTCC CACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCC ACTGCTCCCACCTTCCCACCTTCCTACCGCTCCCACCTTCCCACCTTCCC ACATTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCA CATTCCCACCTTCCCACATTCCCACCTTCCCACCACTCCCACCTTCCCAC CTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCCACC TTCCCACCTTCCCACCTTCCTACCGCTCCCACCTTCCCACCTTCCCACAT TCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATT CCCACCTTCCCACATTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTC CCACCTTCCCACCACTCCTACCTTCCTACCTTCCCACCGCTCCCACATTC TCACCTTCCCACCTTT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	396	0.0025	615	c.695 others(630): Show c.695-994_695-993insAAAGGTGGGAAGGTGAGAATGTGGGAGCGG TGGGAAGGTAGGAAGGTAGGAGTGGTGGGAAGGTGGGAAGGTGGGAGCAG TGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTG GGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGG GAAGGTGGGAGCGGTAGGAAGGTGGGAAGGTGGGAAGGTGGGAATGTGGG AAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGGGA GTGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTGGGAA GGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAG GTGGGAGCGGTAGGAAGGTGGGAAGGTGGGAGCAGTGGGAATGTGGGAAG GTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTG GTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGT GGGAGCAGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGAT GGGAAGATGGGAAGGTGGGAAGGTGGGAGCGGTGG	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
TNFSF13B_chr13_108264718_108313478	108278578	C C	CTCCTCCT others(608): Show CTCCTCCTCCTCTTCCTCCTCCTCTGCTCCTGTCCTCTTCTTCCTCCTCC CCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTGCTCTGCT CCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCCTCC TCCTCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCCTCCTTCTCCT CTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTCCTCCTCCTCCT GCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTCTTCCTC CTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCTCCGCTTCTCT TTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCCCTT CTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCCCCTCCTCT CCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCC TCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCTCTCCT CCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTCCTCCTCTTCCT CCTCCTCCCCTTCTCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	384	0.0026	615	c.424 others(632): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCTTC TTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCT CTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCT TTCCTCCTCCTCCTCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCC TCCTTCTCCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTCC TCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCT TCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCT CCGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCC TCCTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCT CCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCC TTCCTCCTCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCTCCT CCCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTCC TCCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TP53AIP1_chr11_128930370_128947871	128930685	G G	GTTAGGGA others(608): Show GTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAG GGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAG GCCGGGGTTAGGGAGGCTGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCA GGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGT TAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAG GGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGG CCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCG GGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGT CAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGA GAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGAAGG CCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCG GGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGT TAGGGAGGCCAGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	466	0.0022	615	c.49 others(626): Show c.4905_*4906insACCCCTGGCCTCCCTAACCCCTGGCCTCTCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTG GCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTTCCTAACCCCCAGCC TCCCTACCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCGGCCTCCCT AACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTG GCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCTCTAACCCCGGCCT CCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCT GACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACC CCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTG GTCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTC CCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTA ACCCCGGCCTCCCTAACCCCAGCCTCCCTAA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4684		chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507168	C C	CATACGTA others(608): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTATA TATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATAT ACATGTATTATACATACGTAAATGTATATATGTATATATACATGTATTAT ACATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAA TGTATAATGTATATATACATGTATTATACATACGTAAATGTATAATGTAT ATATACATTATACATACGTAAATGTATAATGTATAATGTATATATACATT ATACATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGT ATAATGTATATATACATTATACATACGTAAATGTATATATATACATTATA CATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	388	0.0026	615	c.-23 others(632): Show c.-23+2879_-23+2880insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTAT GTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATATA CATTATACATTATACATTTACGTATGTATAATGTATATATACATTATACA TTTACGTATGTATAATACATGTATATATACATTATACATTTACGTATGTA TAATACATGTATATATACATATATACATTTACGTATGTATAATACATGTA TATATACATATATACATTTACGTATGTATAATACATGTATATATACATAT ATACATTTACGTATGTATAATACATGTATATATACATATATACATTTACG TATGTATAATACATGTATATATACATATATACATTTACGTATGTATAATA CATGTATATATACATATATACATTTACGTATGTATAATACATGTATATAT ACATATATACATTTACGTATGTATAATACATGTATATATACATATATACA TTTACGTATGTATAATACATGTATATATACATATATACATTTACGTATGT ATAATACATGTATATATACATATATACATTTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507207	C C	CATACGTA others(608): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTATA TATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATAT ACATGTATTATACATACGTAAATGTATATATGTATATATACATGTATTAT ACATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAA TGTATAATGTATATATACATGTATTATACATACGTAAATGTATAATGTAT ATATACATTATACATACGTAAATGTATAATGTATAATGTATATATACATT ATACATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGT ATAATGTATATATACATTATACATACGTAAATGTATATATATACATTATA CATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	388	0.0026	615	c.-23 others(632): Show c.-23+2840_-23+2841insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTAT GTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATATA CATTATACATTATACATTTACGTATGTATAATGTATATATACATTATACA TTTACGTATGTATAATACATGTATATATACATTATACATTTACGTATGTA TAATACATGTATATATACATATATACATTTACGTATGTATAATACATGTA TATATACATATATACATTTACGTATGTATAATACATGTATATATACATAT ATACATTTACGTATGTATAATACATGTATATATACATATATACATTTACG TATGTATAATACATGTATATATACATATATACATTTACGTATGTATAATA CATGTATATATACATATATACATTTACGTATGTATAATACATGTATATAT ACATATATACATTTACGTATGTATAATACATGTATATATACATATATACA TTTACGTATGTATAATACATGTATATATACATATATACATTTACGTATGT ATAATACATGTATATATACATATATACATTTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273422	A A	AAAAATAT others(608): Show AAAAATATATATATATTATATATATAAAAATTATATATATTATATATATA AAAATTATATATATTATATATATAAAAATTATATAATATTATATATATAA AATTATATATATTATATATATATAAAAATTATATATATAATATAATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAA ATATAAAAATTATATATATATTATATATATATAAAATTATATATATATAA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATAATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAAATTATATATATTATATATATATAAA AATTATATATATATTATATATATAAAAATTATATATATATTATATACATA TAAAAATTATATATATATATATATATATAAAAATTATATATATATTATAT ATATATATAAATTATATATATATTATATATATATATAAATTATATATATA TTATATATATATAAAAATTATATTATATATATATATATAAAAATTATATA TATATTATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	272	0.0037	615	c.29 others(626): Show c.2987_*2988insAAAATATATATATATTATATATATAAAAATTATA TATATTATATATATAAAAATTATATATATTATATATATAAAAATTATATA ATATTATATATATAAAATTATATATATTATATATATATAAAAATTATATA TATAATATAATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATAAATATAAAAATTATATATATATTATATATATATAAA ATTATATATATATAATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATAATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAAATTATATATA TTATATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATACATATAAAAATTATATATATATATATATATATAAAAATT ATATATATATTATATATATATATAAATTATATATATATTATATATATATA TAAATTATATATATATTATATATATATAAAAATTATATTATATATATATA TATAAAAATTATATATATATTATATATATAC	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2309		chr11	TogoVar
TTLL8_chr22_50013575_50063298	50028600	C C	CCCCCATC others(608): Show CCCCCATCACACCGTCCTGAAGACCCCCACATACCCTCGTAAAGACCCCC ATCACACCGTCCTGAAGACCCACACATACCCTCGTAAAGACCCCATCACA CCGTCCTGAAGACCCCCACATACCCTCGTAAAGACCCCATCACACCGTCC TGAAGACCCCCACATACCCTCGTAAAGACCCCCATCACACCGTCCTGAAG ACCCACACATACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCA CACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACAC TCGTAAAGACCCCCGTCATACCATCCTAAAGACCCCCACACACACTCGTA AAGACCCCATCACACCGTCCTGAAGACCCCCACATACCCTCGTGAAGATC CCCATCACACCATCCTAAAGACCCCCACACACACTCGTAGAGACCCCCAT CACACCATCCTAAAGACCCCACACACCCTCGTAAAGACCCCATCACACCG TCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAA GACCCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCA CACACCCTCGTAAAGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03139.hp2 HG02630.hp2 HG03139.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0202 a0005c0005t0002g0203 a0005c0005t0002g0202 a0005c0005t0002g0203	2	224	0.0089	615	c.225 others(634): Show c.2251+1829_2251+1830insTCTTTACGAGGGTGTGTGGGGTCTTC AGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGG TGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATG GGGTCTTTACGAGGGTGTGTGGGGTCTTTAGGATGGTGTGATGGGGGTCT CTACGAGTGTGTGTGGGGGTCTTTAGGATGGTGTGATGGGGATCTTCACG AGGGTATGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTG TGTGGGGGTCTTTAGGATGGTATGACGGGGGTCTTTACGAGTGTGTGTGG GGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTC AGGATGGTGTGATGGGGTCTTTACGAGGGTATGTGTGGGTCTTCAGGACG GTGTGATGGGGGTCTTTACGAGGGTATGTGGGGGTCTTCAGGACGGTGTG ATGGGGTCTTTACGAGGGTATGTGGGGGTCTTCAGGACGGTGTGATGGGG TCTTTACGAGGGTATGTGTGGGTCTTCAGGACGGTGTGATGGGGGTCTTT ACGAGGGTATGTGGGGGTCTTCAGGACGGTGTGATGGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TXNRD2_chr22_19870522_19946818	19919230	T T	TTGTCACC others(608): Show TTGTCACCCAGGCTGGAGTGCAATGGCGCGATCCTGGTTCACCCCAACCT CCGCCTCCCGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTACCTG GGATTATAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTGAGTAG AGATGGGATTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCA GGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACACGTGTGAG CCACCGTGCCCGGCCTATTTTTATTTTTAATTTAAAAAAAATTTTTAGGC TGAGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCGAGGC GGGCAGATAACCTGAGGTCAGGAGTTCAAAAACAGTCTGGCCAACATGGT GAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTCGGTGTGGTGGCAC ACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCACTTGA ACCCGGGTGGCAGAGGTTGGCAGTGAGCCAAGATTGCACCACTGCACTCC AGCCTGGCTGACAGAGCGAGACTCTTTCTCAATTAAAAAAAAAACTTTAG AGATAAGTTCTCACTC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03041.hp1 HG03225.hp2 HG02723.hp1 HG03041.hp1 HG03225.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0007 a0002c0006t0002g0096 a0002c0006t0002g0007 a0002c0006t0002g0096	3	372	0.0081	615	c.230 others(630): Show c.230-227_230-226insGAGTGAGAACTTATCTCTAAAGTTTTTTTT TTAATTGAGAAAGAGTCTCGCTCTGTCAGCCAGGCTGGAGTGCAGTGGTG CAATCTTGGCTCACTGCCAACCTCTGCCACCCGGGTTCAAGTGATTCTTG TGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCACACCG AGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAG ACTGTTTTTGAACTCCTGACCTCAGGTTATCTGCCCGCCTCGGCCTCTCA AAGTGCTGGGATTACAGGTGTGAGCCACCACACTCAGCCTAAAAATTTTT TTTAAATTAAAAATAAAAATAGGCCGGGCACGGTGGCTCACACGTGTAAT CCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTTGGGAGTT CAAGACCAGCCTGACCAACATGGAGAAATCCCATCTCTACTCAAAATACA AAATTAGCCGGGCATGGTGGCGCATGCCTATAATCCCAGGTACTCGGGAG GCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCGGAGGTTGGGGTGAAC CAGGATCGCGCCATTGCACTCCAGCCTGGGTGACA	TXNRD2	ENSG00000184470.21	transcript	ENST00000400521.7	protein_coding	3/17			chr22	TogoVar
TXNRD2_chr22_19870522_19946818	19919235	A A	ACCCAGGC others(608): Show ACCCAGGCTGGAGTGCAATGGCGCGATCCTGGTTCACCCCAACCTCCGCC TCCCGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGATT ATAGGCATGCGCCACCATGCCCAGCTAATTTTGTATTTTGAGTAGAGATG GGATTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCAGGTGA TCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACACGTGTGAGCCACC GTGCCCGGCCTATTTTTATTTTTAATTTAAAAAAAATTTTTAGGCTGAGT GTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCGAGGCGGGCA GATAACCTGAGGTCAGGAGTTCAAAAACAGTCTGGCCAACATGGTGAAAC CCTGTCTCTACTAAAAATACAAAAATTAGCTCGGTGTGGTGGCACACGCC TGTAGTCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCCG GGTGGCAGAGGTTGGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCT GGCTGACAGAGCGAGACTCTTTCTCAATTAAAAAAAAAACTTTAGAGATA AGTTCTCACTCTGTTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00642.hp1 HG00738.hp1 others(22): Show HG00423.hp2 HG00642.hp1 HG00738.hp1 HG01070.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01358.hp2 HG01496.hp1 HG01516.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02683.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG04199.hp2 NA19043.hp2	a0002 a0004 a0005 others(1): Show a0002 a0004 a0005 a0014	a0002c0003 a0002c0006 a0004c0008 others(2): Show a0002c0003 a0002c0006 a0004c0008 a0005c0005 a0014c0023	a0002c0003t0001 a0002c0006t0002 a0002c0006t0003 others(3): Show a0002c0003t0001 a0002c0006t0002 a0002c0006t0003 a0004c0008t0002 a0005c0005t0001 a0014c0023t0001	a0002c0003t0001g0163 a0002c0003t0001g0308 a0002c0003t0001g0309 others(22): Show a0002c0003t0001g0163 a0002c0003t0001g0308 a0002c0003t0001g0309 a0002c0003t0001g0312 a0002c0003t0001g0313 a0002c0003t0001g0314 a0002c0003t0001g0321 a0002c0003t0001g0322 a0002c0003t0001g0324 a0002c0003t0001g0326 a0002c0003t0001g0329 a0002c0003t0001g0330 a0002c0006t0002g0296 a0002c0006t0003g0125 a0002c0006t0003g0132 a0002c0006t0003g0149 a0002c0006t0003g0158 a0002c0006t0003g0292 a0002c0006t0003g0315 a0002c0006t0003g0317 a0004c0008t0002g0302 a0005c0005t0001g0171 a0005c0005t0001g0203 a0005c0005t0001g0320 a0014c0023t0001g0012	25	372	0.0672	615	c.230 others(630): Show c.230-232_230-231insCAACAGAGTGAGAACTTATCTCTAAAGTTT TTTTTTTAATTGAGAAAGAGTCTCGCTCTGTCAGCCAGGCTGGAGTGCAG TGGTGCAATCTTGGCTCACTGCCAACCTCTGCCACCCGGGTTCAAGTGAT TCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCA CACCGAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTG GCCAGACTGTTTTTGAACTCCTGACCTCAGGTTATCTGCCCGCCTCGGCC TCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACTCAGCCTAAAAA TTTTTTTTAAATTAAAAATAAAAATAGGCCGGGCACGGTGGCTCACACGT GTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTTGG GAGTTCAAGACCAGCCTGACCAACATGGAGAAATCCCATCTCTACTCAAA ATACAAAATTAGCTGGGCATGGTGGCGCATGCCTATAATCCCAGGTACTC GGGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCGGAGGTTGGGG TGAACCAGGATCGCGCCATTGCACTCCAGCCTGGG	TXNRD2	ENSG00000184470.21	transcript	ENST00000400521.7	protein_coding	3/17			chr22	TogoVar
TXNRD2_chr22_19870522_19946818	19919235	A A	ACCCAGGC others(608): Show ACCCAGGCTGGAGTGCAATGGCGCGATCCTGGTTCACCCCAACCTCCGCC TCCCGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGATT ATAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTGAGTAGAGATG GGATTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCAGGTGA TCCGCCCGCCTTGGCCTCCCAAAGTCCTGGGATTACACGTGTGAGCCACC GTGCCCGGCCTATTTTTATTTTTAATTTAAAAAAAATTTTTAGGCTGAGT GTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCGAGGCGGGCA GATAACCTGAGGTCAGGAGTTCAAAAACAGTCTGGCCAACATGGTGAAAC CCTGTCTCTACTAAAAATACAAAAATTAGCTCGGTGTGGTGGCACACGCC TGTAGTCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCCG GGTGGCAGAGGTTGGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCT GGCTGACAGAGCGAGACTCTTTCTCAATTAAAAAAAAAACTTTAGAGATA AGTTCTCACTCTGTTG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00735.hp1 HG01952.hp1 others(6): Show HG00673.hp2 HG00735.hp1 HG01952.hp1 NA18941.hp1 NA18968.hp2 NA18998.hp1 NA19005.hp1 NA19009.hp2 NA19011.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0003c0002t0001 a0001c0001t0001 a0003c0002t0001	a0001c0001t0001g0152 a0001c0001t0001g0263 a0001c0001t0001g0287 others(6): Show a0001c0001t0001g0152 a0001c0001t0001g0263 a0001c0001t0001g0287 a0003c0002t0001g0078 a0003c0002t0001g0227 a0003c0002t0001g0228 a0003c0002t0001g0248 a0003c0002t0001g0250 a0003c0002t0001g0269	9	372	0.0242	615	c.230 others(630): Show c.230-232_230-231insCAACAGAGTGAGAACTTATCTCTAAAGTTT TTTTTTTAATTGAGAAAGAGTCTCGCTCTGTCAGCCAGGCTGGAGTGCAG TGGTGCAATCTTGGCTCACTGCCAACCTCTGCCACCCGGGTTCAAGTGAT TCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCA CACCGAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTG GCCAGACTGTTTTTGAACTCCTGACCTCAGGTTATCTGCCCGCCTCGGCC TCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACTCAGCCTAAAAA TTTTTTTTAAATTAAAAATAAAAATAGGCCGGGCACGGTGGCTCACACGT GTAATCCCAGGACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTTGG GAGTTCAAGACCAGCCTGACCAACATGGAGAAATCCCATCTCTACTCAAA ATACAAAATTAGCCGGGCATGGTGGCGCATGCCTATAATCCCAGGTACTC GGGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCGGAGGTTGGGG TGAACCAGGATCGCGCCATTGCACTCCAGCCTGGG	TXNRD2	ENSG00000184470.21	transcript	ENST00000400521.7	protein_coding	3/17			chr22	TogoVar
TXNRD2_chr22_19870522_19946818	19919235	A A	ACCCAGGC others(608): Show ACCCAGGCTGGAGTGCAATGGCGCGATCCTGGTTCACCCCAACCTCCGCC TCCCGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGATT ATAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTGAGTAGAGATG GGATTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCAGGTGA TCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACACGTGTGAGCCACC GTGCCCGGCCTATTTTTATTTTTAATTTAAAAAAAATTTTTAGGCTGAGT GTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCGAGGCGGGCA GATAACCTGAGGTCAGGAGTTCAAAAACAGTCTGGCCAACATGGTGAAAC CCTGTCTCTACTAAAAATACAAAAATTAGCTCGGTGTGGTGGCACACGCC TGTAGTCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCCG GGTGGCAGAGGTTGGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCT GGCTGACAGACCGAGACTCTTTCTCAATTAAAAAAAAAACTTTAGAGATA AGTTCTCACTCTGTTG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0026 a0005c0005t0001g0026	1	372	0.0027	615	c.230 others(630): Show c.230-232_230-231insCAACAGAGTGAGAACTTATCTCTAAAGTTT TTTTTTTAATTGAGAAAGAGTCTCGGTCTGTCAGCCAGGCTGGAGTGCAG TGGTGCAATCTTGGCTCACTGCCAACCTCTGCCACCCGGGTTCAAGTGAT TCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCA CACCGAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTG GCCAGACTGTTTTTGAACTCCTGACCTCAGGTTATCTGCCCGCCTCGGCC TCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACTCAGCCTAAAAA TTTTTTTTAAATTAAAAATAAAAATAGGCCGGGCACGGTGGCTCACACGT GTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTTGG GAGTTCAAGACCAGCCTGACCAACATGGAGAAATCCCATCTCTACTCAAA ATACAAAATTAGCCGGGCATGGTGGCGCATGCCTATAATCCCAGGTACTC GGGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCGGAGGTTGGGG TGAACCAGGATCGCGCCATTGCACTCCAGCCTGGG	TXNRD2	ENSG00000184470.21	transcript	ENST00000400521.7	protein_coding	3/17			chr22	TogoVar
TXNRD2_chr22_19870522_19946818	19919235	A A	ACCCAGGC others(608): Show ACCCAGGCTGGAGTGCAATGGCGCGATCCTGGTTCACCCCAACCTCCGCC TCCCGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGATT ATAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTGAGTAGAGATG GGATTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCAGGTGA TCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACACGTGTGAGCCACC GTGCCCGGCCTATTTTTATTTTTAATTTAAAAAAAATTTTTAGGCTGAGT GTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCGAGGCGGGCA GATAACCTGAGGTCAGGAGTTCAAAAACAGTCTGGCCAACATGGTGAAAC CCTGTCTCTACTAAAAATACAAAAATTAGCTCGGTGTGGTGGCACACGCC TGTAGTCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCCG GGTGGCAGAGGTTGGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCT GGCTGACAGAGCGAGACTCTTTCTCAATTAAAAAAAAAAATTTAGAGATA AGTTCTCACTCTGTTG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01884.hp1 others(9): Show HG01257.hp2 HG01258.hp2 HG01884.hp1 HG01891.hp2 HG02257.hp2 HG02486.hp2 HG02559.hp2 HG02886.hp2 HG02976.hp1 HG03209.hp1 HG03540.hp2 HG03579.hp1	a0002 a0004 a0010 a0002 a0004 a0010	a0002c0018 a0002c0031 a0004c0009 others(3): Show a0002c0018 a0002c0031 a0004c0009 a0004c0010 a0004c0019 a0010c0030	a0002c0018t0002 a0002c0031t0001 a0004c0009t0002 others(4): Show a0002c0018t0002 a0002c0031t0001 a0004c0009t0002 a0004c0010t0001 a0004c0010t0002 a0004c0019t0002 a0010c0030t0002	a0002c0018t0002g0274 a0002c0018t0002g0325 a0002c0031t0001g0275 others(8): Show a0002c0018t0002g0274 a0002c0018t0002g0325 a0002c0031t0001g0275 a0004c0009t0002g0075 a0004c0010t0001g0086 a0004c0010t0001g0272 a0004c0010t0002g0102 a0004c0010t0002g0146 a0004c0010t0002g0194 a0004c0019t0002g0008 a0010c0030t0002g0110	12	372	0.0323	615	c.230 others(630): Show c.230-232_230-231insCAACAGAGTGAGAACTTATCTCTAAATTTT TTTTTTTAATTGAGAAAGAGTCTCGCTCTGTCAGCCAGGCTGGAGTGCAG TGGTGCAATCTTGGCTCACTGCCAACCTCTGCCACCCGGGTTCAAGTGAT TCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCA CACCGAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTG GCCAGACTGTTTTTGAACTCCTGACCTCAGGTTATCTGCCCGCCTCGGCC TCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACTCAGCCTAAAAA TTTTTTTTAAATTAAAAATAAAAATAGGCCGGGCACGGTGGCTCACACGT GTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTTGG GAGTTCAAGACCAGCCTGACCAACATGGAGAAATCCCATCTCTACTCAAA ATACAAAATTAGCCGGGCATGGTGGCGCATGCCTATAATCCCAGGTACTC GGGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCGGAGGTTGGGG TGAACCAGGATCGCGCCATTGCACTCCAGCCTGGG	TXNRD2	ENSG00000184470.21	transcript	ENST00000400521.7	protein_coding	3/17			chr22	TogoVar
TXNRD2_chr22_19870522_19946818	19919235	A A	ACCCAGGC others(608): Show ACCCAGGCTGGAGTGCAATGGCGCGATCCTGGTTCACCCCAACCTCCGCC TCCCGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGATT ATAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTGAGTAGAGATG GGATTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCAGGTGA TCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACACGTGTGAGCCACC GTGCCCGGCCTATTTTTATTTTTAATTTAAAAAAAATTTTTAGGCTGAGT GTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCGAGGCGGGCA GATAACCTGAGGTCAGGAGTTCAAAAACAGTCTGGCCAACATGGTGAAAC CCTGTCTCTACTAAAAATACAAAAATTAGCTCGGTGTGGTGGCACACGCC TGTAGTCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCCG GGTGGCAGAGGTTGGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCT GGCTGACAGAGCGAGACTCTTTCTCAATTAAAAAAAAAACTTTAGAAATA AGTTCTCACTCTGTTG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0004 a0004	a0004c0027 a0004c0027	a0004c0027t0001 a0004c0027t0001	a0004c0027t0001g0214 a0004c0027t0001g0214	1	372	0.0027	615	c.230 others(630): Show c.230-232_230-231insCAACAGAGTGAGAACTTATTTCTAAAGTTT TTTTTTTAATTGAGAAAGAGTCTCGCTCTGTCAGCCAGGCTGGAGTGCAG TGGTGCAATCTTGGCTCACTGCCAACCTCTGCCACCCGGGTTCAAGTGAT TCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCA CACCGAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTG GCCAGACTGTTTTTGAACTCCTGACCTCAGGTTATCTGCCCGCCTCGGCC TCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACTCAGCCTAAAAA TTTTTTTTAAATTAAAAATAAAAATAGGCCGGGCACGGTGGCTCACACGT GTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTTGG GAGTTCAAGACCAGCCTGACCAACATGGAGAAATCCCATCTCTACTCAAA ATACAAAATTAGCCGGGCATGGTGGCGCATGCCTATAATCCCAGGTACTC GGGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCGGAGGTTGGGG TGAACCAGGATCGCGCCATTGCACTCCAGCCTGGG	TXNRD2	ENSG00000184470.21	transcript	ENST00000400521.7	protein_coding	3/17			chr22	TogoVar
TXNRD2_chr22_19870522_19946818	19919235	A A	ACCCAGGC others(608): Show ACCCAGGCTGGAGTGCAATGGCGCGATCCTGGTTCACCCCAACCTCCGCC TCCCGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGATT ATAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTGAGTAGAGATG GGATTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCAGGTGA TCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACACGTGTGAGCCACC GTGCCCGGCCTATTTTTATTTTTAATTTAAAAAAAATTTTTAGGCTGAGT GTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCGAGGCGGGCA GATAACCTGAGGTCAGGAGTTCAAAAACAGTCTGGCCAACATGGTGAAAC CCTGTCTCTACTAAAAATACAAAAATTAGCTCGGTGTGGTGGCACACGCC TGTAGTCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCCG GGTGGCAGAGGTTGGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCT GGCTGACAGAGCGAGACTCTTTCTCAATTAAAAAAAAAACTTTAGAGATA AGTTCTCACTCTGTTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(264): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 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.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0012 a0013	a0001c0001 a0001c0004 a0001c0038 others(19): Show a0001c0001 a0001c0004 a0001c0038 a0002c0003 a0002c0006 a0003c0002 a0004c0008 a0004c0009 a0004c0010 a0004c0017 a0004c0028 a0004c0029 a0004c0033 a0005c0005 a0006c0014 a0006c0032 a0007c0015 a0007c0041 a0007c0042 a0010c0024 a0012c0040 a0013c0039	a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 others(23): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0038t0001 a0002c0003t0001 a0002c0006t0002 a0002c0006t0003 a0003c0002t0001 a0004c0008t0001 a0004c0008t0002 a0004c0009t0002 a0004c0010t0001 a0004c0017t0002 a0004c0028t0002 a0004c0029t0001 a0004c0033t0001 a0005c0005t0001 a0006c0014t0001 a0006c0032t0001 a0007c0015t0002 a0007c0041t0004 a0007c0042t0002 a0010c0024t0002 a0012c0040t0001 a0013c0039t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(254): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0278 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0299 a0001c0001t0001g0305 a0001c0001t0001g0327 a0001c0004t0001g0106 a0001c0004t0002g0131 a0001c0004t0002g0133 a0001c0004t0002g0141 a0001c0004t0002g0162 a0001c0004t0002g0239 a0001c0004t0002g0261 a0001c0004t0002g0310 a0001c0004t0002g0332 a0001c0004t0002g0333 a0001c0004t0002g0334 a0001c0004t0002g0336 a0001c0004t0002g0349 a0001c0004t0002g0355 a0001c0004t0003g0025 a0001c0004t0003g0092 a0001c0004t0003g0095 a0001c0004t0003g0103 a0001c0004t0003g0117 a0001c0004t0003g0232 a0001c0038t0001g0335 a0002c0003t0001g0015 a0002c0003t0001g0088 a0002c0003t0001g0109 a0002c0003t0001g0119 a0002c0003t0001g0121 a0002c0003t0001g0124 a0002c0003t0001g0127 a0002c0003t0001g0129 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0155 a0002c0003t0001g0157 a0002c0003t0001g0159 a0002c0003t0001g0209 a0002c0003t0001g0240 a0002c0003t0001g0241 a0002c0003t0001g0246 a0002c0003t0001g0276 a0002c0003t0001g0277 a0002c0003t0001g0279 a0002c0003t0001g0280 a0002c0003t0001g0293 a0002c0003t0001g0294 a0002c0003t0001g0318 a0002c0006t0002g0283 a0002c0006t0003g0192 a0002c0006t0003g0211 a0003c0002t0001g0002 a0003c0002t0001g0010 a0003c0002t0001g0013 a0003c0002t0001g0014 a0003c0002t0001g0028 a0003c0002t0001g0029 a0003c0002t0001g0034 a0003c0002t0001g0037 a0003c0002t0001g0041 a0003c0002t0001g0049 a0003c0002t0001g0052 a0003c0002t0001g0062 a0003c0002t0001g0063 a0003c0002t0001g0067 a0003c0002t0001g0089 a0003c0002t0001g0093 a0003c0002t0001g0097 a0003c0002t0001g0136 a0003c0002t0001g0137 a0003c0002t0001g0140 a0003c0002t0001g0144 a0003c0002t0001g0148 a0003c0002t0001g0164 a0003c0002t0001g0165 a0003c0002t0001g0166 a0003c0002t0001g0167 a0003c0002t0001g0168 a0003c0002t0001g0169 a0003c0002t0001g0172 a0003c0002t0001g0176 a0003c0002t0001g0179 a0003c0002t0001g0190 a0003c0002t0001g0198 a0003c0002t0001g0202 a0003c0002t0001g0217 a0003c0002t0001g0219 a0003c0002t0001g0220 a0003c0002t0001g0223 a0003c0002t0001g0225 a0003c0002t0001g0229 a0003c0002t0001g0230 a0003c0002t0001g0233 a0003c0002t0001g0234 a0003c0002t0001g0236 a0003c0002t0001g0237 a0003c0002t0001g0243 a0003c0002t0001g0244 a0003c0002t0001g0245 a0003c0002t0001g0247 a0003c0002t0001g0252 a0003c0002t0001g0259 a0003c0002t0001g0260 a0003c0002t0001g0268 a0003c0002t0001g0270 a0003c0002t0001g0271 a0003c0002t0001g0281 a0003c0002t0001g0284 a0003c0002t0001g0291 a0003c0002t0001g0331 a0004c0008t0001g0256 a0004c0008t0002g0011 a0004c0008t0002g0099 a0004c0008t0002g0118 a0004c0008t0002g0186 a0004c0008t0002g0200 a0004c0008t0002g0215 a0004c0008t0002g0258 a0004c0008t0002g0301 a0004c0008t0002g0304 a0004c0008t0002g0311 a0004c0009t0002g0328 a0004c0009t0002g0340 a0004c0009t0002g0342 a0004c0009t0002g0350 a0004c0009t0002g0351 a0004c0009t0002g0353 a0004c0009t0002g0356 a0004c0010t0001g0142 a0004c0010t0001g0345 a0004c0017t0002g0076 a0004c0017t0002g0282 a0004c0028t0002g0212 a0004c0029t0001g0319 a0004c0033t0001g0352 a0005c0005t0001g0009 a0005c0005t0001g0024 a0005c0005t0001g0050 a0005c0005t0001g0058 a0005c0005t0001g0064 a0005c0005t0001g0130 a0005c0005t0001g0156 a0005c0005t0001g0183 a0005c0005t0001g0208 a0006c0014t0001g0038 a0006c0014t0001g0120 a0006c0014t0001g0213 a0006c0014t0001g0303 a0006c0032t0001g0343 a0007c0015t0002g0105 a0007c0015t0002g0160 a0007c0015t0002g0207 a0007c0015t0002g0255 a0007c0041t0004g0055 a0007c0042t0002g0254 a0010c0024t0002g0289 a0012c0040t0001g0316 a0013c0039t0001g0066	267	372	0.7177	615	c.230 others(630): Show c.230-232_230-231insCAACAGAGTGAGAACTTATCTCTAAAGTTT TTTTTTTAATTGAGAAAGAGTCTCGCTCTGTCAGCCAGGCTGGAGTGCAG TGGTGCAATCTTGGCTCACTGCCAACCTCTGCCACCCGGGTTCAAGTGAT TCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCA CACCGAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTG GCCAGACTGTTTTTGAACTCCTGACCTCAGGTTATCTGCCCGCCTCGGCC TCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACTCAGCCTAAAAA TTTTTTTTAAATTAAAAATAAAAATAGGCCGGGCACGGTGGCTCACACGT GTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTTGG GAGTTCAAGACCAGCCTGACCAACATGGAGAAATCCCATCTCTACTCAAA ATACAAAATTAGCCGGGCATGGTGGCGCATGCCTATAATCCCAGGTACTC GGGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCGGAGGTTGGGG TGAACCAGGATCGCGCCATTGCACTCCAGCCTGGG	TXNRD2	ENSG00000184470.21	transcript	ENST00000400521.7	protein_coding	3/17			chr22	TogoVar
TXNRD2_chr22_19870522_19946818	19919235	A A	ACCCAGGC others(608): Show ACCCAGGCTGGAGTGCAATGGCGCGATCCTGGTTCACCCCAACCTCCGCC TCCCGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGATT ATAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTGAGTAGAGATG GGATTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCAGGTGA TCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACACGTGTGAGCCACC GTGCCCGGCCTATTTTTATTTTTAATTTAAAAAAAATTTTTAGGCTGAGT GTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCGAGGCGGGCA GATAACCTGAGGTCAGGAGTTCAAAAACAGTCTGGCCAACATGGTGAAAC CCTGTCTCTACTAAAAATACAAAAATTAGCTCGGTGTGGTGGCACACGCC TGTAGTCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCCG GGTGGCAGAGGTTGGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCT GGCTGACAGAGCGAGACTCTTTCTCAATTAAAAAAAAAACTTTAGAGATA AGTTCTCACTCTGTTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA19030.hp1 HG01109.hp2 NA19030.hp1	a0002 a0002	a0002c0025 a0002c0026 a0002c0025 a0002c0026	a0002c0025t0002 a0002c0026t0001 a0002c0025t0002 a0002c0026t0001	a0002c0025t0002g0098 a0002c0026t0001g0201 a0002c0025t0002g0098 a0002c0026t0001g0201	2	372	0.0054	615	c.230 others(630): Show c.230-232_230-231insCAACAGAGTGAGAACTTATCTCTAAAGTTT TTTTTTTAATTGAGAAAGAGTCTCGCTCTGTCAGCCAGGCTGGAGTGCAG TGGTACAATCTTGGCTCACTGCCAACCTCTGCCACCCGGGTTCAAGTGAT TCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCA CACCGAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTG GCCAGACTGTTTTTGAACTCCTGACCTCAGGTTATCTGCCCGCCTCGGCC TCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACTCAGCCTAAAAA TTTTTTTTAAATTAAAAATAAAAATAGGCCGGGCACGGTGGCTCACACGT GTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTTGG GAGTTCAAGACCAGCCTGACCAACATGGAGAAATCCCATCTCTACTCAAA ATACAAAATTAGCCGGGCATGGTGGCGCATGCCTATAATCCCAGGTACTC GGGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCGGAGGTTGGGG TGAACCAGGATCGCGCCATTGCACTCCAGCCTGGG	TXNRD2	ENSG00000184470.21	transcript	ENST00000400521.7	protein_coding	3/17			chr22	TogoVar
TXNRD2_chr22_19870522_19946818	19919235	A A	ACCCAGGC others(608): Show ACCCAGGCTGGAGTGCAATGGCGCGATCCTGGTTCACCCCAACCTCCGCC TCCCGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCTGAGTACCTGGGATT ATAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTGAGTAGAGATG GGATTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCAGGTGA TCCGCCCGCCTTGGCCTCCCAAAGTCCTGGGATTACACGTGTGAGCCACC GTGCCCGGCCTATTTTTATTTTTAATTTAAAAAAAATTTTTAGGCTGAGT GTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCGAGGCGGGCA GATAACCTGAGGTCAGGAGTTCAAAAACAGTCTGGCCAACATGGTGAAAC CCTGTCTCTACTAAAAATACAAAAATTAGCTCGGTGTGGTGGCACACGCC TGTAGTCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCCG GGTGGCAGAGGTTGGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCT GGCTGACAGAGCGAGACTCTTTCTCAATTAAAAAAAAAACTTTAGAGATA AGTTCTCACTCTGTTG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	372	0.0027	615	c.230 others(630): Show c.230-232_230-231insCAACAGAGTGAGAACTTATCTCTAAAGTTT TTTTTTTAATTGAGAAAGAGTCTCGCTCTGTCAGCCAGGCTGGAGTGCAG TGGTGCAATCTTGGCTCACTGCCAACCTCTGCCACCCGGGTTCAAGTGAT TCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCA CACCGAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTG GCCAGACTGTTTTTGAACTCCTGACCTCAGGTTATCTGCCCGCCTCGGCC TCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACTCAGCCTAAAAA TTTTTTTTAAATTAAAAATAAAAATAGGCCGGGCACGGTGGCTCACACGT GTAATCCCAGGACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTTGG GAGTTCAAGACCAGCCTGACCAACATGGAGAAATCCCATCTCTACTCAAA ATACAAAATTAGCCGGGCATGGTGGCGCATGCCTATAATCCCAGGTACTC AGGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCGGAGGTTGGGG TGAACCAGGATCGCGCCATTGCACTCCAGCCTGGG	TXNRD2	ENSG00000184470.21	transcript	ENST00000400521.7	protein_coding	3/17			chr22	TogoVar
TXNRD2_chr22_19870522_19946818	19919235	A A	ACCCAGGC others(608): Show ACCCAGGCTGGAGTGCAATGGCGCGATCCTGGTTCACCCCAATCTCCGCC TCCCGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGATT ATAGGCATGCGCCACCATGCCCAGCTAATTTTGTATTTTGAGTAGAGATG GGATTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCAGGTGA TCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACACGTGTGAGCCACC GTGCCCGGCCTATTTTTATTTTTAATTTAAAAAAAATTTTTAGGCTGAGT GTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCGAGGCGGGCA GATAACCTGAGGTCAGGAGTTCAAAAACAGTCTGGCCAACATGGTGAAAC CCTGTCTCTACTAAAAATACAAAAATTAGCTCGGTGTGGTGGCACACGCC TGTAGTCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCCG GGTGGCAGAGGTTGGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCT GGCTGACAGAGCGAGACTCTTTCTCAATTAAAAAAAAAACTTTAGAGATA AGTTCTCACTCTGTTG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19058.hp2 NA19060.hp2 others(1): Show NA19000.hp1 NA19058.hp2 NA19060.hp2 NA19090.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0295 a0002c0003t0001g0297 a0002c0003t0001g0298 others(1): Show a0002c0003t0001g0295 a0002c0003t0001g0297 a0002c0003t0001g0298 a0002c0003t0001g0300	4	372	0.0108	615	c.230 others(630): Show c.230-232_230-231insCAACAGAGTGAGAACTTATCTCTAAAGTTT TTTTTTTAATTGAGAAAGAGTCTCGCTCTGTCAGCCAGGCTGGAGTGCAG TGGTGCAATCTTGGCTCACTGCCAACCTCTGCCACCCGGGTTCAAGTGAT TCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCA CACCGAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTG GCCAGACTGTTTTTGAACTCCTGACCTCAGGTTATCTGCCCGCCTCGGCC TCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACTCAGCCTAAAAA TTTTTTTTAAATTAAAAATAAAAATAGGCCGGGCACGGTGGCTCACACGT GTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTTGG GAGTTCAAGACCAGCCTGACCAACATGGAGAAATCCCATCTCTACTCAAA ATACAAAATTAGCTGGGCATGGTGGCGCATGCCTATAATCCCAGGTACTC GGGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCGGAGATTGGGG TGAACCAGGATCGCGCCATTGCACTCCAGCCTGGG	TXNRD2	ENSG00000184470.21	transcript	ENST00000400521.7	protein_coding	3/17			chr22	TogoVar
UNC5D_chr8_35230475_35801540	35509498	T T	TCTCCTCT others(608): Show TCTCCTCTCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCTTCCCCT CTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTCTCTCCTCCCCTCCCC TCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCTCCT CCCCCCTTCCCTCCCCTTGCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCC TCCCTTCCCCTCTCCCCTCCCCCCTCCCCTCCCTTCCCCTCTCCCCTCCC CTCCCCTCCCTTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCC CCTCTCCCCTCCCCCCTCTCCCCTCCCCTCCCCTCCCTTCCCCTCTCCCC TCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCCCTCTCCCC TCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCTCCCCTCCCCTCTCCTCTCCTTCCCTCCCCTCCCC TCCCATTCCTTCCCCTCCTATTCCTTCCCCTCCCTTTCCCTCCCATTCCT TCCCCTCCCTTTCTCTCCCATTCCTTCCCCTCCCTTTCCCCTACCCCTCC CCTGTCTTCTCCTCCC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0037 a0001c0008t0007g0037	1	64	0.0156	615	c.104 others(634): Show c.104-39786_104-39785insCTCTCCCCTCCCTTCCCCTCTCCCCT CCCCTCCCTTCCCCTCTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTC TCTCCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCT CCCCTCCCCTCTCCTCCCCCCTTCCCTCCCCTTGCCTCTCCCCTCCCTTC CCCTCTCCCCTCCCCTCCCTTCCCCTCTCCCCTCCCCCCTCCCCTCCCTT CCCCTCTCCCCTCCCCTCCCCTCCCTTCCCCTCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCTCCCCTCTCCCCTCCCCCCTCTCCCCTCCCCTCCCCTC CCTTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCTCCC CTCCCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCTCTCC TTCCCTCCCCTCCCCTCCCATTCCTTCCCCTCCTATTCCTTCCCCTCCCT TTCCCTCCCATTCCTTCCCCTCCCTTTCTCTCCCATTCCTTCCCCTCCCT TTCCCCTACCCCTCCCCTGTCTTCTCCTCCCCTCCTCTC	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
VSIG4_chrX_66016738_66045080	66037121	A A	AATATATA others(608): Show AATATATATAATATATATAATATATATAATATAATATAATGCAATATATA ATAATATATAATATAATATATAATATATAATATATATTATATATAATATA TAATATATAATATATATTATATATAATAATATAATATATAATATACATTA TATAATAATATAATGTATATTATATAATAATAATGTAATATATAACATAT ATTATATAATAATAATATAAGATATATTATATAATTAATATAATATATAA TATATATTATATAATAATAATATAAGATATATTATATAATTAATATAATA TATAATATATATTATATAATTAATATAATATATAATATATATTATATAAT AATAATATAATATATATAATAATTATATAATATAGTATATAATATATATT ATATAATAATAATATAATATATATAATAATTATATAATATTAGAATATAT ATTATACAATAATAATATAATATATATTATACAATAATAATATAATATAT ATTATACAATAATAATATAATATATATATAATTATATAATATAATATATA TAATAATAATATAATATAATATATAATATATATTATATAGTAATAATATA ATATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	218	0.0046	615	c.55+ others(630): Show c.55+2822_55+2823insATATTATATATTATATTATATTATTACTAT ATAATATATATTATATATTATATTATATTATTATTATATATATTATATTA TATAATTATATATATATTATATTATTATTGTATAATATATATTATATTAT TATTGTATAATATATATTATATTATTATTGTATAATATATATTCTAATAT TATATAATTATTATATATATTATATTATTATTATATAATATATATTATAT ACTATATTATATAATTATTATATATATTATATTATTATTATATAATATAT ATTATATATTATATTAATTATATAATATATATTATATATTATATTAATTA TATAATATATCTTATATTATTATTATATAATATATATTATATATTATATT AATTATATAATATATCTTATATTATTATTATATAATATATGTTATATATT ACATTATTATTATATAATATACATTATATTATTATATAATGTATATTATA TATTATATTATTATATATAATATATATTATATATTATATATTATATATAA TATATATTATATATTATATATTATATTATATATTATTATATATTGCATTA TATTATATTATATATATTATATATATTATATATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
ZNF469_chr16_88377959_88445753	88401469	A A	AGATGGAT others(608): Show AGATGGATGGATGGATGGATGCTGGGGTGGGTGGATGGGTGAGTGGATGG ATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGAGTGGATGGAT GGTGGATGGATGGGTGGATGGATGGATGGTGGATAGATGGATACATGGGT GGATGAATAGGTAGATGGATGGATAGATGGGCGAGTGGATGGATGGATGG ATGGATGCTGGGGTGGGTGGATGGGTGAGTGAATGGATGGATGGATGCAT GGGTGGATGGATGGATGCATGGGTGGATGGATGGATACATGGGTGGATGA ATAGGTAGATGGATGGATAGATGGGTGAGTGGATGGGTGGATGGATGGAT GGATGGATACATGGGTGGATGGGTAGATGGATGGGTGAGTGCATGGATGG ATGGATATATGGGTAGATGGATGGGTGGATGGATGGGTGATTGGATGGAT GGATGGGTAGATGGATGGATGCATGGGTGGATGGATAGTGGATGGATGGA TGGTAGATGCATGCATGGGTGGATGGATGGTGGCTGGATGGATACAAGGG TGGATGAATAGGTAGATGGATAGATGGGTGAGTGGGTGAGTGGATGGATG GATGGATGGATGGATG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01109.hp1 others(6): Show HG01069.hp2 HG01071.hp2 HG01109.hp1 HG02486.hp2 HG02559.hp2 HG02723.hp1 HG02818.hp1 HG02886.hp2 NA18947.hp1	a0002 a0004 a0021 others(4): Show a0002 a0004 a0021 a0026 a0055 a0083 a0085	a0002c0003 a0002c0008 a0004c0146 others(5): Show a0002c0003 a0002c0008 a0004c0146 a0021c0017 a0026c0026 a0055c0069 a0083c0161 a0085c0155	a0002c0003t0002 a0002c0008t0006 a0004c0146t0002 others(5): Show a0002c0003t0002 a0002c0008t0006 a0004c0146t0002 a0021c0017t0002 a0026c0026t0004 a0055c0069t0040 a0083c0161t0007 a0085c0155t0001	a0002c0003t0002g0240 a0002c0008t0006g0007 a0004c0146t0002g0083 others(5): Show a0002c0003t0002g0240 a0002c0008t0006g0007 a0004c0146t0002g0083 a0021c0017t0002g0215 a0026c0026t0004g0188 a0055c0069t0040g0212 a0083c0161t0007g0167 a0085c0155t0001g0054	9	354	0.0254	615	c.-19 others(636): Show c.-192+18235_-192+18236insCTGGGGTGGGTGGATGGGTGAGTG GATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGAGTGGA TGGATGGTGGATGGATGGGTGGATGGATGGATGGTGGATAGATGGATACA TGGGTGGATGAATAGGTAGATGGATGGATAGATGGGCGAGTGGATGGATG GATGGATGGATGCTGGGGTGGGTGGATGGGTGAGTGAATGGATGGATGGA TGCATGGGTGGATGGATGGATGCATGGGTGGATGGATGGATACATGGGTG GATGAATAGGTAGATGGATGGATAGATGGGTGAGTGGATGGGTGGATGGA TGGATGGATGGATACATGGGTGGATGGGTAGATGGATGGGTGAGTGCATG GATGGATGGATATATGGGTAGATGGATGGGTGGATGGATGGGTGATTGGA TGGATGGATGGGTAGATGGATGGATGCATGGGTGGATGGATAGTGGATGG ATGGATGGTAGATGCATGCATGGGTGGATGGATGGTGGCTGGATGGATAC AAGGGTGGATGAATAGGTAGATGGATAGATGGGTGAGTGGGTGAGTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG	ZNF469	ENSG00000225614.4	transcript	ENST00000565624.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF469_chr16_88377959_88445753	88401469	A A	AGATGGAT others(608): Show AGATGGATGGATGGATGGATGCTGGGGTGGGTGGATGGGTGAGTGGATGG ATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGAGTGGAT GGATGGTGGATGGATGGGTGGATGGATGGATGGTGGATAGATGGATACAT GGGTGGATGAATAGGTAGATGGATGGATAGATGGGCGAGTGGATGGATGG ATGGATGGATGCTGGGGTGGGTGGATGGGTGAGTGAATGGATGGATGGAT GCATGGGTGGATGGATGGATGCATGGGTGGATGGATGGATACATGGGTGG ATGAATAGGTAGATGGATGGATAGATGGGTGAGTGGATGGGTGGATGGAT GGATGGATGGATACATGGGTGGATGGGTAGATGGATGGGTGAGTGCATGG ATGGATGGATATATGGGTAGATGGATGGGTGGATGGATGGGTGATTGGAT GGATGGATGGGTAGATGGATGGATGCATGGGTGGATGGATAGTGGATGGA TGGATGGTAGATGCATGCATGGGTGGATGGATGGTGGCTGGATGGATACA AGGGTGGATGAATAGGTAGATGGATAGATGGGTGAGTGGGTGAGTGGATG GATGGATGGATGGATG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03579.hp2 HG01346.hp2 HG03579.hp2	a0006 a0051 a0006 a0051	a0006c0041 a0051c0064 a0006c0041 a0051c0064	a0006c0041t0007 a0051c0064t0043 a0006c0041t0007 a0051c0064t0043	a0006c0041t0007g0056 a0051c0064t0043g0022 a0006c0041t0007g0056 a0051c0064t0043g0022	2	354	0.0057	615	c.-19 others(636): Show c.-192+18235_-192+18236insCTGGGGTGGGTGGATGGGTGAGTG GATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGAG TGGATGGATGGTGGATGGATGGGTGGATGGATGGATGGTGGATAGATGGA TACATGGGTGGATGAATAGGTAGATGGATGGATAGATGGGCGAGTGGATG GATGGATGGATGGATGCTGGGGTGGGTGGATGGGTGAGTGAATGGATGGA TGGATGCATGGGTGGATGGATGGATGCATGGGTGGATGGATGGATACATG GGTGGATGAATAGGTAGATGGATGGATAGATGGGTGAGTGGATGGGTGGA TGGATGGATGGATGGATACATGGGTGGATGGGTAGATGGATGGGTGAGTG CATGGATGGATGGATATATGGGTAGATGGATGGGTGGATGGATGGGTGAT TGGATGGATGGATGGGTAGATGGATGGATGCATGGGTGGATGGATAGTGG ATGGATGGATGGTAGATGCATGCATGGGTGGATGGATGGTGGCTGGATGG ATACAAGGGTGGATGAATAGGTAGATGGATAGATGGGTGAGTGGGTGAGT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG	ZNF469	ENSG00000225614.4	transcript	ENST00000565624.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF516_chr18_76352682_76500242	76401788	C C	CCCCCGCG others(608): Show CCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCACCCC TCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAC CCCCGCGCCGCACCCCTCCACCACCCACACCCCCGCGCCACACCCCTCCA CCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCC GCGCTCCATCTCTCCACCAACCACACCCCCGCGCCGCACCTCTCCACCAC CAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGC CGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACC CACACCCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCA CCCCTCCACCACCAACCACACCCCCGCGCTCCATCTCTCCACCAACCACA CCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCACCCC TCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAG CCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCCT CCACCACCAACCACAG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	346	0.0029	615	c.181 others(636): Show c.1811-21486_1811-21485insCTGTGGTTGGTGGTGGAGGGGTGC GGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTT GGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCG GCGCGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGTGTGGTTG GTGGAGAGATGGAGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGC GGGGCTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGGTGGTGG AGGGGTGCGGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGG GTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGA GAGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCGCGGGGGTGT GGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGTGGAGGGG TGTGGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTT GGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCG GCGCGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(608): Show GTATATATACATGTATATATATACAAGTATATATATACTTGTATATATAT ATACAAGTATATATATACTTGTATACATATATACTATATATATACATATA TACACATATATACGTATATATATGTATATATACATATATACGTGTATATA CGTATATACATGTATATACGTATATATACACATATATACATGTATATATA CGTATATATACACATATATACGTGTATATATACGTATATATACACATATA TACGTGTATATATACATGTATATATACACATATATACATGTATATATATA CGTATATATACATGTATATATACGTACGTATATATACATGTATATATACG TACGTATATATATACGTATATATACACATATATACATATATACGTATATA TATATACGTATATATACATATATACGTATATATACATATATACGTATATA TATACGTATATATACATATATACGTATATATATATACGTATATATACATA TATACATGTATATATATATATACGTATATATACATATATACATGTATATA TATATACGTATATACACATATATATACATGTATATATATGTGTATATATA CATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	383	0.0026	615	c.-42 others(626): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TACTTGTATATATATATACAAGTATATATATACTTGTATACATATATACT ATATATATACATATATACACATATATACGTATATATATGTATATATACAT ATATACGTGTATATACGTATATACATGTATATACGTATATATACACATAT ATACATGTATATATACGTATATATACACATATATACGTGTATATATACGT ATATATACACATATATACGTGTATATATACATGTATATATACACATATAT ACATGTATATATATACGTATATATACATGTATATATACGTACGTATATAT ACATGTATATATACGTACGTATATATATACGTATATATACACATATATAC ATATATACGTATATATATATACGTATATATACATATATACGTATATATAC ATATATACGTATATATATACGTATATATACATATATACGTATATATATAT ACGTATATATACATATATACATGTATATATATATATACGTATATATACAT ATATACATGTATATATATATACGTATATACACATATATATACATGTATAT ATATGTGTATATATACATGTATATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(608): Show GTATATATACATGTATATATATACAAGTATATATATACTTGTATATATAT ATACAAGTATATATATACTTGTATACATATATACTATATATATACATATA TACACATATATACGTATATATATGTATATATACATATATACGTGTATATA CGTATATACATGTATATACGTATATATACACATATATACATGTATATATA CGTATATATACACATATATACGTGTATATATACGTATATATACACATATA TACGTGTATATATACATGTATATATACACATATATACATGTATATATATA CGTATATATACATGTATATATACGTACGTATATATACATGTATATATACG TACGTATATATATACGTATATATACGTATATATACATATATACGTATATA TATATACGTATATATACATATATACGTATATATATACGTATATATACATA TATACGTATATATATACATATATACGTATATATATATACGTATATATACA TATATACATGTATATATATATACGTATATATACATATATACATGTATATA TATATACGTATATACACATATATATACATGTATATATATGTGTATATATA CATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	383	0.0026	615	c.-42 others(626): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TACTTGTATATATATATACAAGTATATATATACTTGTATACATATATACT ATATATATACATATATACACATATATACGTATATATATGTATATATACAT ATATACGTGTATATACGTATATACATGTATATACGTATATATACACATAT ATACATGTATATATACGTATATATACACATATATACGTGTATATATACGT ATATATACACATATATACGTGTATATATACATGTATATATACACATATAT ACATGTATATATATACGTATATATACATGTATATATACGTACGTATATAT ACATGTATATATACGTACGTATATATATACGTATATATACGTATATATAC ATATATACGTATATATATATACGTATATATACATATATACGTATATATAT ACGTATATATACATATATACGTATATATATACATATATACGTATATATAT ATACGTATATATACATATATACATGTATATATATATACGTATATATACAT ATATACATGTATATATATATACGTATATACACATATATATACATGTATAT ATATGTGTATATATACATGTATATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ABCC1_chr16_15944616_16148053	15999866	C C	CCTTCCTT others(609): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0013	a0001c0004t0013g0047 a0001c0004t0013g0047	1	249	0.0040	616	c.49- others(631): Show c.49-7950_49-7949insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
AHRR_chr5_316714_443285	344944	G G	GGTGTGTG others(609): Show GGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGGGGT GTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAG GCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGAGGC TGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGG GGGGAGCTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGT GTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGGGTG TGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGCGCGGGGGGA GCTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGG GTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGGGT GTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAG GCTGTGTGTGCGCGGGGGGAGCTGTGTGTGGGGTGTGTGTGTGTGAGGCT GTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGG GGGAGCTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02109.hp2 HG02145.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0021 a0006c0006t0021	a0006c0006t0021g0231 a0006c0006t0021g0234 a0006c0006t0021g0231 a0006c0006t0021g0234	2	268	0.0075	616	c.62+ others(629): Show c.62+981_62+982insTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGG GAGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGG GGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTG GGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGA GGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGGGTGTGTGTGTGTGAGG CTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCG GGGGGAGCTGTGGGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTG TGTGTGCGCGGGGGGAGCTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTG GGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGG AGCTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGG GGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGGGGT GTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAG GCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ALLC_chr2_3653200_3707671	3690296	C C	CCCTCCCC others(609): Show CCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCC CTCCCGTCCCCCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCC TCCCCTCCCCCCCTCCTCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCCTCCCCC TCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCTCCCCTCCCCCT CCCCTCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0041 a0002c0005t0002g0041	1	274	0.0037	616	c.512 others(633): Show c.512-5419_512-5418insTCCCCCTCCCCTCCCCCCTCCCCCTCCC CCCTCCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCCCTCCCGTCCCCCCCCCTCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCCTCCTCCTCCCCTCCCCCT CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCC CTCCCTCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGEF10_chr8_1818926_1963641	1919969	T T	TTCTGTGG others(609): Show TTCTGTGGGTGATGAGCTGTTCTGTCAGTGATGGAGCTGTTCTGTGGATG ATGGAGCTGTTCTATGGGTGATGGAGCTGTTCCGTGGGTGATGGAGCTGT TCTGTGGGTGATGGAGCTGTTCTGTGGGTGATGGAGCTGTTCTGTGGGTG ATGGAGCTGTTCTGTGGGTGATGAGCTGTTCTGTCAGTGATGGAGCTGTT CTGTGGATGATGGAGCTGTTCTATGGGTGATGGGGCTGTTCCATGGGTGA TGGAGCTGTTCCATGGGTGATGGAGCTGTTCTGTGGGTGATGGAGCTGTT CTGTGGGTGATGGAGCTGTTCTGTGGGTGATGGAGCTGCTCTGTGGGTGA TGAGCTGTTCTGTCAGTGATGGAGCTGTTCTGTGGATGATGGAGCTGTTC TATGGGTGATGGAGCTGTTCTATGGGTGATGGAGCTGTTCTGTGGGTGAT GAGCTGTTCTGTCAGTGATGGAGCTGTTCTGTGGATGATGGAGCTGTTCT ATGGGTGATGGGGCTGTTCCATGGGTGATGGAGCTGTTCCATGGGTGATG GAGCTGTTCTGTGGGTGATGGAGCTGTTCTGTGGGTGATGGAGCTGTTCT GTGGGTGATGGAGCTGC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0013 a0002c0025t0013	a0002c0025t0013g0116 a0002c0025t0013g0116	1	363	0.0028	616	c.214 others(635): Show c.2144-2830_2144-2829insGGTGATGAGCTGTTCTGTCAGTGATG GAGCTGTTCTGTGGATGATGGAGCTGTTCTATGGGTGATGGGGCTGTTCC ATGGGTGATGGAGCTGTTCCATGGGTGATGGAGCTGTTCTGTGGGTGATG GAGCTGTTCTGTGGGTGATGGAGCTGTTCTGTGGGTGATGGAGCTGCTCT GTGGGTGATGAGCTGTTCTGTCAGTGATGGAGCTGTTCTGTGGATGATGG AGCTGTTCTATGGGTGATGGAGCTGTTCTATGGGTGATGGAGCTGTTCTG TGGGTGATGAGCTGTTCTGTCAGTGATGGAGCTGTTCTGTGGATGATGGA GCTGTTCTATGGGTGATGGGGCTGTTCCATGGGTGATGGAGCTGTTCCAT GGGTGATGGAGCTGTTCTGTGGGTGATGGAGCTGTTCTGTGGGTGATGGA GCTGTTCTGTGGGTGATGGAGCTGCTCTGTGGGTGATGAGCTGTTCTGTC AGTGATGGAGCTGTTCTGTGGATGATGGAGCTGTTCTATGGGTGATGGAG CTGTTCCGTGGGTGATGGAGCTGTTCTGTGGGTGATGGAGCTGTTCTGTG GGTGATGGAGCTGTTCTGTGGGTGATGGAGCTGTTCTGTG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF3_chr3_56722420_56806949	56731592	C C	CCGGGTTT others(609): Show CCGGGTTTTAAGTTTTCTTTCTTTTTTTTTTTTTTTTTGGTCAAAGTTGC CATTAATTGTTTATTATCATTAAAAATAAATACATATGTTTCACTTCACA TGTGTTACACAGGTGCTTAATATTTTATTAATATAAATGCATAATTCATT TGCTCTTCACAACCACAAAAACTAGATACATGATTATTCCCATTTTGCAG ATAAGGAAATTAACACCCAAGTGAAATACTTTACCAAAGGTCACATAGGT AGTAAGTAACAACTGTGTGATCAGAGGAGAGCATTATCTCCAAACTTCGT GAGAGACACATATAAGCAATTAGTCCCTTACAGACTAAGAAATTTTGATA CAGACAATTTGTTGCAGATTCATAAGATAGTACAGCCAGTTCTGTGAATC ACACTGTTATATTTATTTCCACATATTCTATATTAATAATATAATTTTTA ATTCCATGTATTTTAAGTTTTCATTCAATAACTGCTATAAGTATATGCAG CTCTGAGAACAAGGGGGAAGAGAATAATTTCAGCCATTTAAAAATAGCTT TTATATTTAGATTTAAATATTTCAGTTGCATTTCTTTTTTTTTTTTTTTT TTTTTTTTTTTTACTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0008 a0004c0011t0008	a0004c0011t0008g0072 a0004c0011t0008g0072	1	358	0.0028	616	c.122 others(633): Show c.1228+645_1228+646insAAAGTAAAAAAAAAAAAAAAAAAAAAAA AAAAAGAAATGCAACTGAAATATTTAAATCTAAATATAAAAGCTATTTTT AAATGGCTGAAATTATTCTCTTCCCCCTTGTTCTCAGAGCTGCATATACT TATAGCAGTTATTGAATGAAAACTTAAAATACATGGAATTAAAAATTATA TTATTAATATAGAATATGTGGAAATAAATATAACAGTGTGATTCACAGAA CTGGCTGTACTATCTTATGAATCTGCAACAAATTGTCTGTATCAAAATTT CTTAGTCTGTAAGGGACTAATTGCTTATATGTGTCTCTCACGAAGTTTGG AGATAATGCTCTCCTCTGATCACACAGTTGTTACTTACTACCTATGTGAC CTTTGGTAAAGTATTTCACTTGGGTGTTAATTTCCTTATCTGCAAAATGG GAATAATCATGTATCTAGTTTTTGTGGTTGTGAAGAGCAAATGAATTATG CATTTATATTAATAAAATATTAAGCACCTGTGTAACACATGTGAAGTGAA ACATATGTATTTATTTTTAATGATAATAAACAATTAATGGCAACTTTGAC CAAAAAAAAAAAAAAAAAGAAAGAAAACTTAAAACCCG	ARHGEF3	ENSG00000163947.12	transcript	ENST00000296315.8	protein_coding	9/9			chr3	TogoVar
ASAP2_chr2_9201812_9410678	9406062	T T	TCTTCCTC others(609): Show TCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTG GACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCAC TGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTT TGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTG TGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCT TCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTC AGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGC TTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACAT CTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTG TGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGA CCTCTGTGACATCTAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0095 a0002c0001t0001g0095	1	210	0.0048	616	c.27 others(627): Show c.2735_*2736insCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGA GTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGT CACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGT GTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCA GTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGG CCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTC CTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTC GTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGA CATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCT CTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGT GGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCA CTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGT TTGTCACTGAGTGGACCTCTGTGACATCTAGG	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		385		chr2	TogoVar
ASAP2_chr2_9201812_9410678	9406452	A A	AGGCTTCC others(609): Show AGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGGCCTCTGTG ACATCTAGGCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACC TCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAG TGGGCCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAATGTGTGTTTGTC ACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAATGTGTG TTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAG TGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGC CTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCC TCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAG GCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTG GACCTCTGTGACATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0149 a0001c0002t0003g0149	1	210	0.0048	616	c.31 others(627): Show c.3125_*3126insGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACT GAGTGGGCCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAATGTGTGTTT GTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGT GTGTTTGTCACTGAGTGGGCCTCTGTGACATCTAGTCTTCCTCAGGCCTT CAATGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCA GGCCTTCAATGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCT TCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATC TCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGT GACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGAC CTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGA GTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGT CACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGT GTTTGTCACTGAGTGGACCTCTGTGACATCTC	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		775		chr2	TogoVar
ASAP2_chr2_9201812_9410678	9406510	T T	TCTTCCTC others(609): Show TCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGGCCTCTGTGAC ATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTG GACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCAC TGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTT TGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTG TGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCT TCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTC AGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTC TTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACAT CTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTG TGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGA CCTCTGTGACATCTAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0139 a0001c0002t0002g0139	1	210	0.0048	616	c.31 others(627): Show c.3183_*3184insCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGA GTGGGCCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGT CACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGT GTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCA GTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGG CCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTC CTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTC GTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGA CATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCT CTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGT GGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCA CTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGT TTGTCACTGAGTGGACCTCTGTGACATCTAGG	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		833		chr2	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAT others(609): Show ATATATATAGTTTATATATATATAGTTTATATATATATACTATATATATA GTTTATATATACTATATATATAGTTTATATATATATACTATATATAGTTT ATATATATATACTATATATAGTATATATATACTATATATATACTATATAT ATAGTTTATATATATATACTATATATATAGTTTATATATATACTATATAT ATAGTTTATATATATACTATATATATAGTTTATATATATACTATATATAT AGTTTATATATATATAAACTATATATATAGTTTATATATATATACTATAT ATATAGTATATATATATAAACTATATATATAGTTTATATATATATAAACT ATATATATAGTTTATATATATATATACTATATATATAGTATATATATATA TAAACTATATATATAGTTTATATATATATAAACTATATATATAGTTTATA TATATATATACTATATATATAGTTTATATATATATATATACTATATATAT AGTTTATATATATATATACTATATATATAGTTTATATATATATACTATAT ATATAGTTTATATATATATATACTATATATATAGTTTATATATATATATA CTATATATATAGTTTAT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0219	1	304	0.0033	616	c.331 others(635): Show c.3314-1170_3314-1169insATAAACTATATATATAGTATATATAT ATATAAACTATATATATAGTATATATATATATAAACTATATATATAGTAT ATATATATAAACTATATATATAGTATATATATATATAAACTATATATATA GTATATATATATATATAAACTATATATATAGTATATATATATATAAACTA TATATATAGTTTATATATATATAAACTATATATATAGTTTATATATATAT ATACTATATATATAGTATATATATATATAAACTATATATATAGTTTATAT ATATATAAACTATATATATAGTTTATATATATATACTATATATATAGTAT ATATATATAAACTATATATATAGTTTATATATATATAAACTATATATATA GTATATATATAAACTATATATATAGTATATATATAAACTATATATATAGT ATATATATAAACTATATATATAGTATATATATATAAACTATATATATAGT ATATATATAGTATATATATACTATATATAGTATATATATATAAACTATAT ATAGTATATATATATAAACTATATATATAGTATATATAAACTATATATAT AGTATATATATATAAACTATATATATATAAACTATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
AZU1_chr19_822837_837018	835512	A A	AGGCCCCG others(609): Show AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCTGTCCAGGCCC CGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCTGTCCAGGCCCCGACGC GTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 NA19240.hp2 HG03540.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0001 a0001c0002t0002 a0001c0004t0001	a0001c0002t0002g0008 a0001c0004t0001g0021 a0001c0002t0002g0008 a0001c0004t0001g0021	2	391	0.0051	616	c.36 others(627): Show c.3635_*3636insGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCA GCCCTGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCTG TCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3495		chr19	TogoVar
B3GNTL1_chr17_82937149_83056770	83035827	G G	GGCTGGTG others(609): Show GGCTGGTGGAGGTCACTGAGGTAGACCCTCGGAGGGCGGTTTGCACGTGT GTGATGAGCTGGTGGAGGTCACTGGGCTGGACGCTTGGAGGGCGGTTTGC ACGTGTGTGATGAGCTGGTGGAGGTCACTGAGGTAGACACTCGGAGGGCG GTTTGCACGTGTGTGATGAGCTGGTGGAGGTCACTGGGCTGGACGCTTGG AGGGCAGTTTGCACGTGTGTGATGAGCTCGTGGAAGTCACTGAGGTAGAC ACTCGGAGGGCGGTTTGCACGTGTGTGATGGGCTGGTGGAGGTCACTGGG CTGGACGCTTGGAGGGCGGTTTGCACGTGTGTGATGAGCTGGTGGAGGTC ACTGAGGTAGACACTCGGAGGGCGGTTTGCACGTGTGTGATGAGCTGGTG GAGGTCACTGGGCTGGACGCTTGGAGGGCAGTTTGCACGTGTGTGATGAG CTCGTGGAAGTCACTGAGGTAGACACTCGGAGGGCGGTTTGCACGTGTGT GATGGGCTGGTGGAGGTCACTGGGCTGGACGCTTGGAGGGCGGTTTGCAC GTGTGTGATGAGCTCGTGGAGGTCACTGAGGTAGACACTCGGAGGGCGGT TTGCACGTGTGTGATGA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03579.hp1 NA19240.hp2 HG03453.hp2 HG03579.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0014 a0001c0002 a0001c0014	a0001c0002t0016 a0001c0014t0018 a0001c0002t0016 a0001c0014t0018	a0001c0002t0016g0134 a0001c0002t0016g0135 a0001c0014t0018g0049 a0001c0002t0016g0134 a0001c0002t0016g0135 a0001c0014t0018g0049	3	266	0.0113	616	c.233 others(631): Show c.233-729_233-728insTCATCACACACGTGCAAACCGCCCTCCGAG TGTCTACCTCAGTGACCTCCACGAGCTCATCACACACGTGCAAACCGCCC TCCAAGCGTCCAGCCCAGTGACCTCCACCAGCCCATCACACACGTGCAAA CCGCCCTCCGAGTGTCTACCTCAGTGACTTCCACGAGCTCATCACACACG TGCAAACTGCCCTCCAAGCGTCCAGCCCAGTGACCTCCACCAGCTCATCA CACACGTGCAAACCGCCCTCCGAGTGTCTACCTCAGTGACCTCCACCAGC TCATCACACACGTGCAAACCGCCCTCCAAGCGTCCAGCCCAGTGACCTCC ACCAGCCCATCACACACGTGCAAACCGCCCTCCGAGTGTCTACCTCAGTG ACTTCCACGAGCTCATCACACACGTGCAAACTGCCCTCCAAGCGTCCAGC CCAGTGACCTCCACCAGCTCATCACACACGTGCAAACCGCCCTCCGAGTG TCTACCTCAGTGACCTCCACCAGCTCATCACACACGTGCAAACCGCCCTC CAAGCGTCCAGCCCAGTGACCTCCACCAGCTCATCACACACGTGCAAACC GCCCTCCGAGGGTCTACCTCAGTGACCTCCACCAGC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	3/12			chr17	TogoVar
C10orf90_chr10_126419997_126675693	126672434	G G	GCAGGACT others(609): Show GCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACC CCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCA GCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGG TCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAG GACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGA GACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTA CCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCAT CAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACT GGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACC AGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCC GAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGC TACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTC ATCAGCTACCCCGAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA19054.hp2 NA19060.hp1 NA18983.hp1 NA19054.hp2 NA19060.hp1	a0001 a0005 a0001 a0005	a0001c0008 a0001c0009 a0005c0006 a0001c0008 a0001c0009 a0005c0006	a0001c0008t0004 a0001c0009t0001 a0005c0006t0001 a0001c0008t0004 a0001c0009t0001 a0005c0006t0001	a0001c0008t0004g0082 a0001c0009t0001g0077 a0005c0006t0001g0085 a0001c0008t0004g0082 a0001c0009t0001g0077 a0005c0006t0001g0085	3	218	0.0138	616	c.-19 others(627): Show c.-1955_-1954insGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCG GGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTG GTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCA GTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGA TGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGT AGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCT CGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCC TGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGAC CAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCT GATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGG GTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGT CTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGT CCTGGTCTCGGGGTAGCTGATGACCAGTCCTG	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding		1742		chr10	TogoVar
C10orf90_chr10_126419997_126675693	126672875	C C	CCCGAGAC others(609): Show CCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATC AGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTG GTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGAACA GGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCG AGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCT ACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCA TCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGAC TGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGAC CAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCC CGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAG CTACCCCGAGAACAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGT CATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGG ACTGGTCATCAGCTACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02896.hp1 HG02895.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0028 a0001c0001t0007g0029 a0001c0001t0007g0028 a0001c0001t0007g0029	2	218	0.0092	616	c.-23 others(627): Show c.-2396_-2395insAGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGC TGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGG GGTAGCTGATGACCAGTCCTGTTCTCGGGGTAGCTGATGACCAGTCCTGG TCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAG TCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGAT GACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTA GCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTC GGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCT GGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACC AGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGTTCTCGGGGTAGCTG ATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGG TAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTC TCGGGGTAGCTGATGACCAGTCCTGGTCTCGG	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding		2183		chr10	TogoVar
C17orf67_chr17_56786913_56838920	56792730	A A	ATGATGGT others(609): Show ATGATGGTGATGATGGGGGTGATGGTGATGGTGGTGAGAGTGGTGGTGGG GGTGGTAGTGGTGGAGATGGAGGTAGTGGTGATGGTGACGATGGTAGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGACAGTGATGATGGTGAGAGTGGTG GTGGTGGTGGTCATGGTGGTGGTGGTGGTGATGGTAATGATGGGGGTGAC GGTGGTGGTGATGATGGTGGTGATGGTGATGGTGGTGATGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGATAGTGATG ATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGGT GATGGTGGTGGTGGTGATGGTGGTGACGGTGATGGTGGTGATGGTGGTGG TGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGATGGTGGTG ATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGATGGTGAT GATGGTGGTGATGGTGGTGATGGTGATGGTGATGGTGGCGGTGATGGTGG TGATGGTGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGATGGTG GTGGTGATGGTGATGAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0083 a0002c0002t0002g0083	1	292	0.0034	616	c.21 others(631): Show c.21-379_*21-378insATCATCACCATCACCACCACCATCACCACC ATCACCACCATCATCACCATCACCACCACCACCATCACCACCATCACCGC CACCATCACCATCACCATCACCACCATCACCACCATCATCACCATCACCA CCACCATCACCACCATCATCACCATCACCACCACCATCACCACCATCATC ACCATCACCACCACCACCACCACCACCATCACCATCACCACCACCATCAC CACCATCACCGTCACCACCATCACCACCACCACCATCACCACCATCATCA CCATCACCACCACCATCACCACCACCATCACCACCATCATCACTATCACC ACCATCACCACCATCATCACCACCACCACCACCACCATCACCACCACCAT CACCACCATCACCATCACCACCATCATCACCACCACCGTCACCCCCATCA TTACCATCACCACCACCACCACCATGACCACCACCACCACCACTCTCACC ATCATCACTGTCACCACCACCACCACCACCACCACCATCACTACCATCGT CACCATCACCACTACCTCCATCTCCACCACTACCACCCCCACCACCACTC TCACCACCATCACCATCACCCCCATCATCACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C20orf96_chr20_265863_295750	279033	C C	CGGGACGG others(609): Show CGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAG GGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGAGGGCGGGAGGG CGGGACGGAGGGACGGAGGGAGGGAGGGAGGGCGGGAGGGCGGGACGGAG GGACGGAGGGAGGGAGGGCGGGAGGGAGGGAGGGACGGAGGGTGGGAGGG AGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGAGGGCGGGAG GGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGAGGGAGGGAGGGACGG AGGGTGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGAC GGAGGGAGGGAGGGACGGAGGGCGGGAGGGAGGGAGGGAGGGAGGGAGGG CGGGAGGGAGGGAGGGACGGAGGGTGGGAGGGAGGGAGGGAGGGCGGGAC GGAGGGCGGGAGGGCGGGACGGAGGGAGGGCGGGACGGAGGGACGGAGGG AGGGAGGGAGGGCGGGAGGGCGGGACGGAGGGACGGAGGGCGGGAGGGAG GGAGGGACGGAGGGCGGGAGGGAGGGAGGGACGGAGGGCGGGAGGGAGGG AGGGAGGGCGGGACGGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	410	0.0024	616	c.465 others(631): Show c.465+138_465+139insTCCGTCCCGCCCTCCCTCCCTCCCTCCCGC CCTCCGTCCCTCCCTCCCTCCCGCCCTCCGTCCCTCCCTCCCTCCCGCCC TCCGTCCCTCCGTCCCGCCCTCCCGCCCTCCCTCCCTCCCTCCGTCCCTC CGTCCCGCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCC TCCCTCCCTCCCACCCTCCGTCCCTCCCTCCCTCCCGCCCTCCCTCCCTC CCTCCCTCCCTCCCGCCCTCCGTCCCTCCCTCCCTCCGTCCCGCCCTCCC GCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCACCCTCCGTCCCTCCCTC CCTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCCTCCC TCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCACCCTC CGTCCCTCCCTCCCTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCC TCCCGCCCTCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCCTC CCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCGTCCC TCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C2orf80_chr2_208160347_208195030	208176938	T T	TAGGTGTA others(609): Show TAGGTGTATACATACGTATACATATCTGTATACATACGTATACATAGGTG TATACATACGTATACATATCTGTATACATACGTATACATAGGTGTATACA TACGTATACATATCTGTATACATACGTATACATAGGTGTATACATACGTA TACATATCTGTATACATACGTATACATAGGTGTATACATACGTATACATA TCTGTATACATACGTATACATAGGTGTATACATACGTATACATATCTGTA TACATACGTATACATAGGTGTATACATACGTATACATATCTGTATACATA CGTATACATAGGTGTATACATACGTATACATATCTGTATACATACGTATA CATAGGTGTATACATACGTATACATATCTGTATACATACGTATACATAGG TGTATACATACGTATACATATCTGTATACATACGTATACATAGGTGTATA CATACGTATACATATCTGTATACATACGTATACATAGGTGTATACATACG TATACATATCTGTATACATACGTATACATAGGTGTATACATACGTATACA TATCTGTATACAGATCTGTATACAGATGTATACAGATCTGTATACAGATG TATACAGATCTGTATAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	342	0.0029	616	c.366 others(633): Show c.366+3806_366+3807insGTATACAGATCTGTATACATCTGTATAC AGATCTGTATACATCTGTATACAGATCTGTATACAGATATGTATACGTAT GTATACACCTATGTATACGTATGTATACAGATATGTATACGTATGTATAC ACCTATGTATACGTATGTATACAGATATGTATACGTATGTATACACCTAT GTATACGTATGTATACAGATATGTATACGTATGTATACACCTATGTATAC GTATGTATACAGATATGTATACGTATGTATACACCTATGTATACGTATGT ATACAGATATGTATACGTATGTATACACCTATGTATACGTATGTATACAG ATATGTATACGTATGTATACACCTATGTATACGTATGTATACAGATATGT ATACGTATGTATACACCTATGTATACGTATGTATACAGATATGTATACGT ATGTATACACCTATGTATACGTATGTATACAGATATGTATACGTATGTAT ACACCTATGTATACGTATGTATACAGATATGTATACGTATGTATACACCT ATGTATACGTATGTATACAGATATGTATACGTATGTATACACCTATGTAT ACGTATGTATACAGATATGTATACGTATGTATACACCT	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(609): Show TGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGTCAGCGTGCATAGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGG GTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGC GGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGG GGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCC GGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGG GCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCAT AGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATG CATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGC ATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTC GGGCGGGGTGTGTACGG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0175 a0002c0013t0001g0175	1	338	0.0030	616	c.300 others(633): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGTCAGCGTGCATAGGGCCGGAGGCGGGG TACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCG GGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGG GCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCG GGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGG CCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATA GGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGC ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGG TCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CADM2_chr3_84953989_86079429	85818864	C C	CAAGGTTC others(609): Show CAAGGTTCTCGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGA CCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCT GCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATA GCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAA GAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATG ATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATT CTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACT CATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATA TCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGTAT TGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCA GCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTA CCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0030 a0001c0003t0006g0030	1	146	0.0069	616	c.238 others(635): Show c.238+16677_238+16678insGGCGATTCCTCAGGGATCTAGAACTA GAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGA GTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGG CACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATG ATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGC AGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAAT TGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACAC CGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACA CAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGG GGGAGGGATAGTATTGGGAGATATACCTAATGCTAGATGACACATTAGTG GGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCAC AATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTTCTC	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(609): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGGAA GGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTGTGTGG GGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGGCTGGG GAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGGGGCTA CTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGG GGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGTGGGGG AAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGGTGGGAGGGGGTGGGGTG GAGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGGGGAA GGGTGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGGGGTGT GGGTGGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGTGGGGTGG GGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	284	0.0035	616	c.712 others(633): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCC CACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCC CTCCCACCCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCA CCCCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACC CTTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACT CCACCCCACCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCAC CCATACCCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACACC CTTCCCCCACCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCC CACCCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAACCCTC CCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCCACCCA GGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(609): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTG GGGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGT GTGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGG GCTGGGGAGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGGGGCT ACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTG GGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGTGGGG GAAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGGGGTG GAGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGGGGAA GGGTGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGGGGTGT GGGTGGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGTGGGGTGG GGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp2 NA19090.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0027 a0001c0001t0022g0176 a0001c0001t0001g0027 a0001c0001t0022g0176	2	284	0.0070	616	c.712 others(633): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCC CACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCC CTCCCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCAC CCCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACCC TTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTC CACCCCACCCCTCCCCCTCCCACCCCACCCCTCCCCAGCCCCACCCATAC CCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACACCCTTCCC CCACCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCCCACCCC ACCCCTCCCCCACCCCACCCCAACCCTCCCCCCACCCCACCCCAACCCTC CCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCCACCCA GGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CCDC88C_chr14_91266323_91422820	91293473	T T	TGCCACAG others(609): Show TGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACTTTCCCATC CTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTT CCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCT CACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCC ACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCA CCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCA TCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACC TTCCCATCCTCACCCGCCAGAGCTCACCTTCCCATCCTCACGTGCCACAG CTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCG CCACAGCTCACTTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCT CACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCC CATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCA CCTTCCCATCCTCACCC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0225 a0001c0004t0001g0225	1	284	0.0035	616	c.411 others(633): Show c.4112+699_4112+700insGGGTGAGGATGGGAAGGTGAGCTGTGGC GGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGC TGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAG GTGAGCTGTGGCACGTGAGGATGGGAAAGTGAGCTGTGGCGGGTGAGGAT GGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGT GAGGATGGGAAGGTGAGCTCTGGCGGGTGAGGATGGGAAGGTGAGCTGTG GCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGA GCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGA AGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGG ATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTCTGGCGG GTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTG TGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAAGT GAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293473	T T	TGCCACAG others(609): Show TGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACTTTCCCATC CTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTT CCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCT CACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCC ACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCA CCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCA TCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACC TTCCCATCCTCACCCGCCAGAGCTCACCTTCCCATCCTCACGTGCCACAG CTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCG CCACAGCTCACTTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCT CACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCTCACCTTCC CATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCA CCTTCCCATCCTCACCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0088 a0002c0002t0001g0088	1	284	0.0035	616	c.411 others(633): Show c.4112+699_4112+700insGGGTGAGGATGGGAAGGTGAGCTGTGGC GGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGC TCTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAG GTGAGCTGTGGCACGTGAGGATGGGAAAGTGAGCTGTGGCGGGTGAGGAT GGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGT GAGGATGGGAAGGTGAGCTCTGGCGGGTGAGGATGGGAAGGTGAGCTGTG GCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGA GCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGA AGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGG ATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTCTGGCGG GTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTG TGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAAGT GAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293473	T T	TGCCACAG others(609): Show TGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACTTTCCCATC CTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTT CCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCT CACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCC ACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCA CCCGCCACAGCTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCA TCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCTCACC TTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAG CTCACCTTCCCATCCTCACCCGCCACAGCTCACTTTCCCATCCTCACGTG CCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCT CACCCGCCAGAGCTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCC CATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCA CCTTCCCATCCTCACCC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0082 a0001c0004t0001g0082	1	284	0.0035	616	c.411 others(633): Show c.4112+699_4112+700insGGGTGAGGATGGGAAGGTGAGCTGTGGC GGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGC TGTGGCACGTGAGGATGGGAAGGTGAGCTCTGGCGGGTGAGGATGGGAAG GTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGAT GGGAAAGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGT GAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTCTG GCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGA GCTGTGGCACGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGA AGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGG ATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTCTGGCGG GTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTG TGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAAGT GAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(609): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCC TTCCTCCCCCCTCCCCCCTTCCTCCCCCTCTTCCCTTCCTCCCCCTCTTC CTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCC TCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTC CTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCT CCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0063 a0001c0002t0063	a0001c0002t0063g0270 a0001c0002t0063g0270	1	270	0.0037	616	c.162 others(637): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTC CCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCCTCCCCCCTTCCTCCCCC TCTTCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCC CCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCC CTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCC TCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995203	C C	CTCCCCCT others(609): Show CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCTCCTCCTCCCCCTCTTCCTC CTCCTCCCCCTCTTCCTCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCTCTTCCTCCCCCTCCCCCTC TTCCTCCCCCTCCCCCCTCTTCCTCCCCCTCCCCCCTCTTCCTCCCCCTC CCCCTCTTCCTCCCCCTCCCCTCTTCCTCCCCCTCCCCCTCTCCTCCCCC TCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCC TCCCCCTCCCACTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCTCC CCCCTCCTCTTCCTCCCCCTCCCCTCCTCTTCCTCCCCCTCCCCCTCCTC TTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCTTCCTCCTCTTCCTCCT CCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCC TCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCCTTCCTCTTCCTCCTCCT CCTCCCCTTCCTCCCCT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0060 a0001c0001t0008g0060	1	270	0.0037	616	c.162 others(637): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTCTTCCTCC CCCTCCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCTCTTC CTCCCCCTCCCCCTCTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTC TTCCTCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCTCCCCC TCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCACTCCTCTTCCTCCCC CTCCCCCTCCTCTTCCTCCCCTCCCCCCTCCTCTTCCTCCCCCTCCCCTC CTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCT CCCCCTCTTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCC TCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTC CTCCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCTT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar

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Search Results (Total: 10000 hits)