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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Select column to sort.

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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
CFAP46_chr10_132803392_132947570	132888494	T T	TACCCCTG others(662): Show TACCCCTGCCACCTTCACCCCTGCCGCCTGTACCCCTGCCACCTTCACCC CTGCCGCCTGTACCCCTGCCACCTTCACCCCTGCCGCCTGTACCCCTGCC ACCTGCACCCCTGCCACCTGCACCTGCCACCTTCACCCCTGCCGCCTGTA CCCCTGCCACCTTCACCCCTGCCGCCTGTACCCCTGCCGCCTGCACCCCT GCCACCTGCACCTGCCACCTTCACCCCTGCCACCTTCACCCCTGCCACCT TCACCCCTGCTGCCTGCACCCCACCACCTTCACCCCTGCCGCCTGCACCC CTGCCGCCTGCACCCCTGCCACCTTCACCCCTGCCGCCTGCACCCCTGCC GCCTGCACCTGCCACCTTCACCCCTGCCGCCTGCACCCCTGCCGCCTGCA CCTGCCACCTGCACCCCTGCAGCCTGCACCTGCCACCTTCACCCCTGCCG CCTGCACCTGCCACCTTCACCCCTGCCGCCTTCACCCCTGCCGCCTGCAC CCCGCCACCTTCACCCCTGCCACCTGCACCCCGCCACCTTCACCCCTGCC GCCTGCACCTGCCACCTTCACCCCTGCCGCCTGCACCTGCCACCTTCACC CCTGCCGCCTTCACCCCTGCCGCCTGCACCCCGCCACCTTCACCCCTGCC ACCTGCACCCCGCCACCTTC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0029 a0029	a0029c0099 a0029c0099	a0029c0099t0002 a0029c0099t0002	a0029c0099t0002g0017 a0029c0099t0002g0017	1	246	0.0041	669	c.330 others(688): Show c.3305-2536_3305-2535insGAAGGTGGCGGGGTGCAGGTGGCAGG GGTGAAGGTGGCGGGGTGCAGGCGGCAGGGGTGAAGGCGGCAGGGGTGAA GGTGGCAGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGG GGTGAAGGTGGCGGGGTGCAGGTGGCAGGGGTGAAGGTGGCGGGGTGCAG GCGGCAGGGGTGAAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAG GGGTGAAGGTGGCAGGTGCAGGCTGCAGGGGTGCAGGTGGCAGGTGCAGG CGGCAGGGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGG GGTGCAGGCGGCAGGGGTGAAGGTGGCAGGGGTGCAGGCGGCAGGGGTGC AGGCGGCAGGGGTGAAGGTGGTGGGGTGCAGGCAGCAGGGGTGAAGGTGG CAGGGGTGAAGGTGGCAGGGGTGAAGGTGGCAGGTGCAGGTGGCAGGGGT GCAGGCGGCAGGGGTACAGGCGGCAGGGGTGAAGGTGGCAGGGGTACAGG CGGCAGGGGTGAAGGTGGCAGGTGCAGGTGGCAGGGGTGCAGGTGGCAGG GGTACAGGCGGCAGGGGTGAAGGTGGCAGGGGTACAGGCGGCAGGGGTGA AGGTGGCAGGGGTACAGGCGGCAGGGGTGAAGGTGGCAGGGGT	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
COL22A1_chr8_138583235_138919041	138692270	T T	TTGTGGAG others(662): Show TTGTGGAGGTGTGTGTATGTGTGTAATGTGTGTATGCATGTTTGTGGAGG TGTATGTGTGGAGGTGTGTGTGTATGTGTGCATGTTTGTGGAGGTGTATG CATGCGTGTGCATTTGTGAAGGTGTGTGAGTGAGTGTGTGCACGTTTGTG GAGGTGTGTGTGCACGTGTGTGTGTGCATGTTTGTGGAGGTGTGTGTATG TGTGTAATGTGTGTATGCACGTTTGTGGAGGTGTATGTGTGGAGGTGTGT GTGTATGTGTGCAGTGCATGTGTGCATGTTTGTGGAGGTGTATGCATGCG TGTGCATTTGTGAAGGTGTGTGTGTGCACGTTTGTGGAGGTGTGTGTGCA CGTGTGTGTGTGCATGTTTGTGGAGGTGTGTATATGTGTACACATGCGTG TGTGCGTTTGTGGAGGTGTATGTGTGTACGTGTGTGTGCATGTTTGTGGT GGTATGTGTATGTGTGGAGGTGTGTATGTGTGCACGTGCATGTGTGCATG TTTGTGGAGGTGTATGTGTGCACGTGCATGCACATTTGTGGACGTGTGTG CGTGTGTGTGCATGTTTGTGGAGGTGTGTGTGCGCGTGCGTGTATGCATG TTTGTGGAGGTGTGTGTGTACATGTGTGTATGCATGTTTGTGGAGGTGTA TGTGTGGAGGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01261.hp1 HG02451.hp1 others(3): Show HG00741.hp1 HG01261.hp1 HG02451.hp1 HG02451.hp2 HG02970.hp2 HG03225.hp1	a0002 a0004 a0002 a0004	a0002c0004 a0002c0005 a0002c0022 others(2): Show a0002c0004 a0002c0005 a0002c0022 a0002c0052 a0004c0040	a0002c0004t0008 a0002c0005t0009 a0002c0022t0001 others(2): Show a0002c0004t0008 a0002c0005t0009 a0002c0022t0001 a0002c0052t0002 a0004c0040t0004	a0002c0004t0008g0023 a0002c0004t0008g0099 a0002c0005t0009g0135 others(3): Show a0002c0004t0008g0023 a0002c0004t0008g0099 a0002c0005t0009g0135 a0002c0022t0001g0040 a0002c0052t0002g0058 a0004c0040t0004g0035	6	158	0.0380	669	c.275 others(688): Show c.2754+1375_2754+1376insTACACACACACCTCCACACATACACC TCCACAAACATGCATACACACATGTACACACACACCTCCACAAACATGCA TACACGCACGCGCACACACACCTCCACAAACATGCACACACACGCACACA CGTCCACAAATGTGCATGCACGTGCACACATACACCTCCACAAACATGCA CACATGCACGTGCACACATACACACCTCCACACATACACATACCACCACA AACATGCACACACACGTACACACATACACCTCCACAAACGCACACACGCA TGTGTACACATATACACACCTCCACAAACATGCACACACACACGTGCACA CACACCTCCACAAACGTGCACACACACACCTTCACAAATGCACACGCATG CATACACCTCCACAAACATGCACACATGCACTGCACACATACACACACAC CTCCACACATACACCTCCACAAACGTGCATACACACATTACACACATACA CACACCTCCACAAACATGCACACACACACGTGCACACACACCTCCACAAA CGTGCACACACTCACTCACACACCTTCACAAATGCACACGCATGCATACA CCTCCACAAACATGCACACATACACACACACCTCCACACATACACCTCCA CAAACATGCATACACACATTACACACATACACACACCTCCACA	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	35/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138692270	T T	TTGTGGAG others(662): Show TTGTGGAGGTGTGTGTATGTGTGTAATGTGTGTATGCATGTTTGTGGAGG TGTATGTGTGGAGGTGTGTGTGTATGTGTGCATGTTTGTGGAGGTGTATG CATGCGTGTGCATTTGTGAAGGTGTGTGAGTGTGTGCACGTTTGTGGAGG TGTGTGTGCACGTGTGTGTGTGCATGTTTGTGGAGGTGTGTGTATGTGTG TAATGTGTGTATGCACGTTTGTGGAGGTGTATGTGTGGAGGTGTGTGTGT ATGTGTGCAGTGCATGTGTGCATGTTTGTGGAGGTGTATGCATGCGTGTG CATTTGTGAAGGTGTGTGAGTGTGTGCACGTTTGTGGAGGTGTGTGTGCA CGTGTGTGTGTGCATGTTTGTGGAGGTGTGTATATGTGTACACATGCGTG TGTGCGTTTGTGGAGGTGTATGTGTGTACGTGTGTGTGCATGTTTGTGGT GGTATGTGTATGTGTGGAGGTGTGTATGTGTGCACGTGCATGTGTGCATG TTTGTGGAGGTGTATGTGTGCACGTGCATGCACATTTGTGGACGTGTGTG CGTGTGTGTGCATGTTTGTGGAGGTGTGTGTGCGCGTGCATGTATGCATG TTTGTGGAGGTGTGTGTGTACATGTGTGTATGCATGTTTGTGGAGGTGTA TGTGTGGAGGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG04199.hp2 NA20129.hp1 HG03704.hp1 HG04199.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0101 a0001c0001t0001g0124 a0001c0002t0002g0043 a0001c0001t0001g0101 a0001c0001t0001g0124 a0001c0002t0002g0043	3	158	0.0190	669	c.275 others(688): Show c.2754+1375_2754+1376insTACACACACACCTCCACACATACACC TCCACAAACATGCATACACACATGTACACACACACCTCCACAAACATGCA TACATGCACGCGCACACACACCTCCACAAACATGCACACACACGCACACA CGTCCACAAATGTGCATGCACGTGCACACATACACCTCCACAAACATGCA CACATGCACGTGCACACATACACACCTCCACACATACACATACCACCACA AACATGCACACACACGTACACACATACACCTCCACAAACGCACACACGCA TGTGTACACATATACACACCTCCACAAACATGCACACACACACGTGCACA CACACCTCCACAAACGTGCACACACTCACACACCTTCACAAATGCACACG CATGCATACACCTCCACAAACATGCACACATGCACTGCACACATACACAC ACACCTCCACACATACACCTCCACAAACGTGCATACACACATTACACACA TACACACACCTCCACAAACATGCACACACACACGTGCACACACACCTCCA CAAACGTGCACACACTCACACACCTTCACAAATGCACACGCATGCATACA CCTCCACAAACATGCACACATACACACACACCTCCACACATACACCTCCA CAAACATGCATACACACATTACACACATACACACACCTCCACA	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	35/64			chr8	TogoVar
COL4A1_chr13_110143963_110312157	110255704	G G	GGGCAGGC others(662): Show GGGCAGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAAGGGAGGGGGCAG GCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGAGGAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGAAAG GCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGGCAGGCAGGAAGGG AGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGC AGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGGCAGGCAGGAAG GGAGGGGGCAGGCAGGAAGGGAAGGGGGGAAGGCAGGAAGGGAGGGGGAA GGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGG AGGGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAA GGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGG GGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAA GGGAAGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0047 a0002c0047	a0002c0047t0002 a0002c0047t0002	a0002c0047t0002g0337 a0002c0047t0002g0337	1	344	0.0029	669	c.85- others(686): Show c.85-12971_85-12970insTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTC CCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTC CTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCC TTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCCCTCCCTTCCT GCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTTCCCCCT CCCTTCCTGCCTTCCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGC CTGCCCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCTGCCC CCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTGCCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCC TCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCC TTCCTCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCTGCCCCC TCCCTTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCTGCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
DCLK1_chr13_35763652_36136382	35958284	G G	GCTATAAC others(662): Show GCTATAACCACCACCACCACCACCATTATCACCATCACCATCACACACCA CAACTACCACCACCACCACCATCACCACTATAACCACTAGCACCACCACC ACTATAACCATCACCACCATCACCACTATAACCACCACTACCACCACCAC CACTATAACCACCACCACCACCACTATAACCACCATCATCATCACCACCA CTACCACTACTACAACCATTACCACCATCACTGCTATAACCACCACCACC ATTATAACCATCACCACCACCACTATAACCACCATCATCATCACCACCAC TACCACTACTATAACCATCACCACCATTACTACTATAACCACCACCACCA CCACCACCACCACTATAATCATTACCACTATAACCACCACTACCACCACT ACCACTATGATAACCATCACCAACACCACTATAACCACCAATGCCAAGAA GTGTTCATAGCAGGAGTCATAAACACAGGACCAACCAGGGATAGGACCAA CCAGGACCAACCAGGACCAACACCACCACCACTACTACCACTACTATAAC CATCACCACCATCACTGCTATAATCACCACCACCACCACCATCACTATAA TCATCACCATCATCACCACTATAACCACCACCACCACCACCACCACCAGT TATAACCATCACCACCACTA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0226 a0001c0004t0007g0226	1	230	0.0044	669	c.724 others(688): Show c.724-10828_724-10827insTAGTGGTGGTGATGGTTATAACTGGT GGTGGTGGTGGTGGTGGTGGTTATAGTGGTGATGATGGTGATGATTATAG TGATGGTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATA GTAGTGGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCTGGTTGGTC CTATCCCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTG GCATTGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGT GGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGG TGGTGGTTATAGTAGTAATGGTGGTGATGGTTATAGTAGTGGTAGTGGTG GTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATGGTGGT GGTGGTTATAGCAGTGATGGTGGTAATGGTTGTAGTAGTGGTAGTGGTGG TGATGATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGTGGTGGTG GTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTGGTGGT GGTGCTAGTGGTTATAGTGGTGATGGTGGTGGTGGTGGTAGTTGTGGTGT GTGATGGTGATGGTGATAATGGTGGTGGTGGTGGTGGTTATAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DENND2A_chr7_140513420_140645813	140621426	T T	TAAGAAAT others(662): Show TAAGAAATAATGACGCTCTCGGCTTTCGGCTCGGAGGAGGCCAAGGTGCA ACTTCCTTCGGTCGTCCCGAATCCGGGTTCATCCGACACCAGCCGCCTCC ACCATGCCGCCGAAGTTCGACCCCAACGAGATCAAAGTCGTATACCTGAG GTGCACCGGAGGTGAAGTCGGTGCCACTTCTGCCCTGGCCCCCAAGATCG GCCCCCTGGGTCTGTCTCCAAAAAAAGTTGGTGATGACATTGCCAAGGCA ACGGGTGACTGGAAGGGCCTGAGGATTACAGTGAAACTGACCATTCAGAA CAGACAGGCCCAGATTGAGGTGGTGCCTTCTGCCTCTGCCCTGATCATCA AAGCCCTCAAGGAACCACCAAGAGACAGAAAGAAACAGAAAAACATTAAA CACAGTGGGAATATCACTTTTGATGAGATTGTCAACATTGCTCGACAGAT GCGGCACCGATCCTTAGCCAGAGAACTCTCTGGAACCATTAAAGAGATCC TGGGGACTGCCCAGTCAGTGGGCTGTAATGTTGATGGCCGCCATCCTCAT GACATCATCGATGACATCAACAGTGGTGCTGTGGAATGCCCAGCCAGTTA AGCACAAAGGAAAACATTTCAATAAAGGATCATTTGACAACTGGTGAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02155.hp2 HG00673.hp1 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0001 a0001c0020t0001 a0001c0001t0001 a0001c0020t0001	a0001c0001t0001g0093 a0001c0020t0001g0092 a0001c0001t0001g0093 a0001c0020t0001g0092	2	254	0.0079	669	c.-24 others(690): Show c.-247-15621_-247-15620insTTTTTTTTTTTTTTTTTTTTTTTT CACCAGTTGTCAAATGATCCTTTATTGAAATGTTTTCCTTTGTGCTTAAC TGGCTGGGCATTCCACAGCACCACTGTTGATGTCATCGATGATGTCATGA GGATGGCGGCCATCAACATTACAGCCCACTGACTGGGCAGTCCCCAGGAT CTCTTTAATGGTTCCAGAGAGTTCTCTGGCTAAGGATCGGTGCCGCATCT GTCGAGCAATGTTGACAATCTCATCAAAAGTGATATTCCCACTGTGTTTA ATGTTTTTCTGTTTCTTTCTGTCTCTTGGTGGTTCCTTGAGGGCTTTGAT GATCAGGGCAGAGGCAGAAGGCACCACCTCAATCTGGGCCTGTCTGTTCT GAATGGTCAGTTTCACTGTAATCCTCAGGCCCTTCCAGTCACCCGTTGCC TTGGCAATGTCATCACCAACTTTTTTTGGAGACAGACCCAGGGGGCCGAT CTTGGGGGCCAGGGCAGAAGTGGCACCGACTTCACCTCCGGTGCACCTCA GGTATACGACTTTGATCTCGTTGGGGTCGAACTTCGGCGGCATGGTGGAG GCGGCTGGTGTCGGATGAACCCGGATTCGGGACGACCGAAGGAAGTTGCA CCTTGGCCTCCTCCGAGCCGAAAGCCGAGAGCGTCATTATTTCTT	DENND2A	ENSG00000146966.13	transcript	ENST00000496613.6	protein_coding	1/19			chr7	TogoVar
DOCK8_chr9_209865_470255	400766	T T	TCCACCAT others(662): Show TCCACCATCACCACCACCTCCACCACCAGCACTTCCACCACCACCATCAC CACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACCACCA CCACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACCATC ACCACCACCTCCACCACCACCACCTCCACCATCACCACCACCTCCACCAC CACCACCACCTCCACCACCACCAGCTCCACCACCACCACCTCCACCACCA CCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACC TCCACCACCACCACCACCTCCACCTCCACCACCTCCACCACCACCACCAC CTCCACCACCACCACCACCTCCACCACCACCACCTCCACCATCACCACCA CCTCCACCACCACCACCTCCTTCACCACCACCACCTCCACCACCACCACC TCCACCACCACCACCACCACCACCTCCACCACCACCACCACCTCCACCAC CACCACCACCTCCACCTCCACCACCTCCACCACCACCACCACCTCCACCA CCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACC ACCACCACCACCGCCACCACCACCTCCACCGCCACCACCACCTCCACCGC CACCACCACCTCCACCACCA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0003 a0009c0017t0003	a0009c0017t0003g0020 a0009c0017t0003g0020	1	256	0.0039	669	c.323 others(688): Show c.3234+1513_3234+1514insTCACCACCACCTCCACCACCAGCACT TCCACCACCACCATCACCACCACCTCCACCACCACCACCTCCACCACCAC CACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCA CCACCACCTCCACCATCACCACCACCTCCACCACCACCACCTCCACCATC ACCACCACCTCCACCACCACCACCACCTCCACCACCACCAGCTCCACCAC CACCACCTCCACCACCACCACCACCACCACCTCCACCACCACCACCACCT CCACCACCACCACCACCTCCACCACCACCACCACCTCCACCTCCACCACC TCCACCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCAC CTCCACCATCACCACCACCTCCACCACCACCACCTCCTTCACCACCACCA CCTCCACCACCACCACCTCCACCACCACCACCACCACCACCTCCACCACC ACCACCACCTCCACCACCACCACCACCTCCACCTCCACCACCTCCACCAC CACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCA CCACCACCACCTCCACCACCACCACCACCGCCACCACCACCTCCACCGCC ACCACCACCTCCACCGCCACCACCACCTCCACCACCACCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EBF2_chr8_25836725_26050413	26005383	T T	TAATTATA others(662): Show TAATTATATATTATATATAATTATATATTATATATAATATATAATATATA TTATATATAATATATAATTATATATAATATATAATATATTATATATTATA TATATTATATAAAATATAATATATTATATATAATTATATATTATATATTA TATATAATATATAATTATATGTTATATATTATATATATTATATATTATAT ATATATTATATATATAATATATATTATATATTAAATTATATATAATATAT ATTATATATATAATTTATATATATAAAATATATTATATATTATATAAATA TATATATTTTATATATATAAAATATATATTTTATAATATATAATATAGAA ATGTATATTATATAATATATAATTATATATAATTATATATTATATAATAT ATATTTCTATATTATATATTTATAATGTATAATATATAAATATATTATAA ATATATATTATATACTATATAATGCATTATAAATATATTATATTTATATA TTATAAATATATTACATATTTATATATTATATATATAATATATATATTAT ATATTATAAATATATTTTATAAAATATAATATATATATTATATATTATAT ATTATAAATATATTTTATAAAATATAATATATATATTATATATTATATTT TATAAAATATAATAATAATA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	220	0.0046	669	c.551 others(688): Show c.551+27701_551+27702insTATTATTATTATATTTTATAAAATAT AATATATAATATATATATTATATTTTATAAAATATATTTATAATATATAA TATATAATATATATATTATATTTTATAAAATATATTTATAATATATAATA TATATATTATATATATAATATATAAATATGTAATATATTTATAATATATA AATATAATATATTTATAATGCATTATATAGTATATAATATATATTTATAA TATATTTATATATTATACATTATAAATATATAATATAGAAATATATATTA TATAATATATAATTATATATAATTATATATTATATAATATACATTTCTAT ATTATATATTATAAAATATATATTTTATATATATAAAATATATATATTTA TATAATATATAATATATTTTATATATATAAATTATATATATAATATATAT TATATATAATTTAATATATAATATATATTATATATATAATATATATATAA TATATAATATATATAATATATAACATATAATTATATATTATATATAATAT ATAATATATAATTATATATAATATATTATATTTTATATAATATATATAAT ATATAATATATTATATATTATATATAATTATATATTATATATAATATATA TTATATATTATATATAATATATAATTATATATAATATATAATT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF2_chr8_25836725_26050413	26005383	T T	TAATTATA others(662): Show TAATTATATATTATATATAATTATATATTATATATAATATATAATTATAT ATTATATATAATATATAATTATATATAATATATAATATATTATATATTAT ATATATTATATAAAATATAATATATTATATATAATTATATATTATATATT ATATATAATATATAATTATATGTTATATATTATATATATTATATATTATA TATATATTATATATATAATATATATTATATATTAAATTATATATAATATA TATTATATATATAATTTATATATATAAAATATATTATATATTATATAAAT ATATATATTTTATATATATAAAATATATATTTTATAATATATAATATAGA AATGTATATTATATAATATATAATTATATATAATTATATATTATATAATA TATATTTCTATATTATATATTTATAATGTATAATATATAAATATATTATA AATATATATTATATACTATATAATGCATTATAAATATATTATATTTATAT ATTATAATATATTACATATTTATATATTATATATATAATATATATATTAT ATATTATAAATATATTTTATAAAATATAATATATATATTATATATTATAT ATTATAAATATATTTTATAAAATATAATATATATATTATATATTATATTT TATAAAATATAATAATAATA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0134 a0001c0002t0014g0134	1	220	0.0046	669	c.551 others(688): Show c.551+27701_551+27702insTATTATTATTATATTTTATAAAATAT AATATATAATATATATATTATATTTTATAAAATATATTTATAATATATAA TATATAATATATATATTATATTTTATAAAATATATTTATAATATATAATA TATATATTATATATATAATATATAAATATGTAATATATTATAATATATAA ATATAATATATTTATAATGCATTATATAGTATATAATATATATTTATAAT ATATTTATATATTATACATTATAAATATATAATATAGAAATATATATTAT ATAATATATAATTATATATAATTATATATTATATAATATACATTTCTATA TTATATATTATAAAATATATATTTTATATATATAAAATATATATATTTAT ATAATATATAATATATTTTATATATATAAATTATATATATAATATATATT ATATATAATTTAATATATAATATATATTATATATATAATATATATATAAT ATATAATATATATAATATATAACATATAATTATATATTATATATAATATA TAATATATAATTATATATAATATATTATATTTTATATAATATATATAATA TATAATATATTATATATTATATATAATTATATATTATATATAATATATAA TTATATATTATATATAATATATAATTATATATAATATATAATT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EML1_chr14_99788413_99947060	99928143	G G	GTGGTGGT others(662): Show GTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTG GAGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGAGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGT GGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTG GTGGTGGTGATGGTGGTGGAGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GATGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0197 a0001c0004t0003g0197	1	288	0.0035	669	c.190 others(688): Show c.1909+7274_1909+7275insATGGTGGTGGTGGTGGAGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTG GTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGAGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGAG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGAT GGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGAGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
FMN2_chr1_240086883_240480187	240185033	C C	CCCCTTCT others(662): Show CCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTC CCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTC TTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCC CCTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATA CCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCC TCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTT TCTCCCTCCTATACCTGCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCT TCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCT TCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCT ATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTC CCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCT CTTTCTCCCTCCTATACCTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0018 a0018	a0018c0131 a0018c0131	a0018c0131t0005 a0018c0131t0005	a0018c0131t0005g0146 a0018c0131t0005g0146	1	174	0.0058	669	c.193 others(688): Show c.1931-3171_1931-3170insTTCTCTTTCTCCCTCCTATACCTTCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTAT ACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCC TCCTATACCTGCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTT TCTCCCTCCTATACCTTCCCCCTTCTCCCTCCTATACCTTCCCCTTCTCT TTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCC TTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACC TTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTC CTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTC TCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTC TCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTC CCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTAT ACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCC CTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTGCCC	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
GAS6_chr13_113815549_113869076	113817317	T T	TCCTCCCC others(662): Show TCCTCCCCCCACGGGACACATCCCCCCTCCCCCACGGGACACATACCCCC TCCCCCCACGGGACACATCCCTCCTCCCCCCACGGGACACATACCCCCTC CCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCC CCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTC CAGGGAACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCA CGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAGG GGACACATCCCCCCTCCCCCCACGGGACACATCCCCCTCCCCCCACGGGA CACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACA CATCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCAGGGGACACAT ACCCCCTCCCTCCAGGGGACACATACCCCCTCCCTCCAGGGGACACATCC CCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCC CCTCCCCCCACGGGACACATCCCCCCTCCCCCCCACGGGACACATACCCC CTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCT CCCTCCAGGGACACATCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	143	0.0070	669	c.35 others(680): Show c.3546_*3547insGGGGATGTGTCCCTGGAGGGAGGGGGGATGTGCC CCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGTATGTGTCCC GTGGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCC TGGAGGGAGGGGGGATGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCCTG GAGGGAGGGGGTATGTGTCCCCTGGAGGGAGGGGGTATGTGTCCCCTGGG GGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGATGTGTCCCCTGGAGGG AGGGGGGATGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCGTGGGGGGAG GGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGG GGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGG ATGTGTCCCGAGGAGGGAGGGGGGATGTGTTCCCTGGAGGGAGGGGGGAT GTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGT GTCCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGTATGTGT CCCGTGGGGGGAGGAGGGATGTGTCCCGTGGGGGGAGGGGGTATGTGTCC CGTGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGG	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding		3231		chr13	TogoVar
GATC_chr12_120441444_120468749	120467991	A A	AGCTGAGG others(662): Show AGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGCCGAGGTTGCAGTGAG CGGAGACAGTGACATCGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCG TCTCAAAAAAATAAAGAAAAATAAAAAAAACAAATCCCTCGAACTTTTTC TCTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGGAT GTAGTGGCGCCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGA GATTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACTACAGGCGCGCGCCA CCACGCCCAGCTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATG TTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCCGCCCGCCTCGGC CTCCTAAAGTGCTGGGATTGCCACTAGCTTTCTATCAGTAACTCTAAATC CTCAATATCCTGATCTGTAAAATCTGGTTAACCATACAGGCCGGGTGAGG TGGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCTGAGGCGGGCGGATC ACCTCAGGTCGGGAATTCGAGACCAGCCTGACCAACAAGGAGAAACCCCG TCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTA TAATCCCAGCTACTCAGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02622.hp2 NA18906.hp1 others(1): Show HG02257.hp1 HG02622.hp2 NA18906.hp1 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0002t0002 a0001c0001t0017 a0001c0002t0002	a0001c0001t0017g0015 a0001c0001t0017g0123 a0001c0002t0002g0006 a0001c0001t0017g0015 a0001c0001t0017g0123 a0001c0002t0002g0006	4	408	0.0098	669	c.80 others(680): Show c.8032_*8033insGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGC CGAGGTTGCAGTGAGCGGAGACAGTGACATCGCACTCCAGCCTGGGCAAC AAGAGCAAAACTCCGTCTCAAAAAAATAAAGAAAAATAAAAAAAACAAAT CCCTCGAACTTTTTCTCTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTG TCACCAGGCTGGGATGTAGTGGCGCCATCTCGGCTCACTGCAACCTCCGC CTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGGAACTGGGAC TACAGGCGCGCGCCACCACGCCCAGCTCATTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGA TCCGCCCGCCTCGGCCTCCTAAAGTGCTGGGATTGCCACTAGCTTTCTAT CAGTAACTCTAAATCCTCAATATCCTGATCTGTAAAATCTGGTTAACCAT ACAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCTAGCATTTTGGGAGGC TGAGGCGGGCGGATCACCTCAGGTCGGGAATTCGAGACCAGCCTGACCAA CAAGGAGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCGT GGTGGCGCATGCCTATAATCCCAGCTACTCAGGAC	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding		4243		chr12	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(662): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGCC CCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCC GTGCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAA CCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGCCC CTCCCCTCCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	669	c.31 others(680): Show c.3125_*3126insGCGGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGC GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACG GGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCG GGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGG GGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGCACGGGGCCGGGGGCAG CCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGCC ACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGG CAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAG TGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTG TGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGT TTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTG GGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGG GGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGGGG AGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
IFFO2_chr1_18899280_18961676	18925820	A A	ATGGATGG others(662): Show ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATG GATGGATGGAGGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0033 a0001c0001t0004g0033	1	376	0.0027	669	c.666 others(686): Show c.666-4700_666-4699insACCATCCATCCATCCATCCATCCATCCA TCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAACCAACC AATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCA ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAATCCATCCCTCCATCCATCCATCCATC CATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA ACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATC CAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925894	T T	TGGTTGGA others(662): Show TGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATT GGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGA TGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTG GATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGG ATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTG GTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TTGGTTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATTGGT TGGATGGATGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0127 a0001c0001t0028g0127	1	376	0.0027	669	c.666 others(686): Show c.666-4774_666-4773insTCCATCCATCCATCCATCCAACCAATCC ATCCATCCATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCAT CCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCC ATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA ACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAAT CCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAACCAT CCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAACCATC CATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCA ACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAA CCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCAACCAATCCATCCATCCATCCATCCATCCATCCAACCAATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCATCCAACC	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(662): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGA GGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGA GGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAG GGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGA GGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGA GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGG GCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCA GGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGG AGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGAAACGGGCAGGGAGG AGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCA GGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGACGGGCAGGGAGGA GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0119 a0002c0002t0001g0119	1	204	0.0049	669	c.978 others(686): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGG CAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAG GAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAG GGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGG GAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAG GAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGG CAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAG GGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGA GGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGA GGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAG GGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INS_chr11_2154779_2166209	2161948	C C	CACCCCTG others(662): Show CACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTA TCCCCACACCCCTGTCCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCA CACCCCTGTCCCCAGACCCCTGTCCCCACACCTCTGTCCCCCGGACCCCT GTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAC ACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTATCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCAGGACCCCTGTCCCCCACACCCCTGTCCCCAGGACCCCTGTCCCC ACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCT GTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTG TCCCCCGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCAC ACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGT CCCCAGGACCCTGTCCCCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	376	0.0027	669	c.-79 others(678): Show c.-799_-798insCCGGGGACAGGGTCCTGGGGACAGGGGTGTGGGGAC AGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCT GGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGGTGTGGGGACA GGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTG GGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAG GGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTG GGGACAGGGGTGTGGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACA GGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTGTG GGGACAGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACA GGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGT GGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACA GAGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCT GGGGACAGGGGTGTGGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACA GGGGTGTGGGGACAGGGGTCTGGGGACAGGGGT	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		740		chr11	TogoVar
IQSEC1_chr3_12892043_13078429	12896683	T T	TCTGCCAG others(662): Show TCTGCCAGTTCCTTTTTTTTTTTTTTTTTTTTTTTAATTAATTTATTTTT TTTTTTATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGG GTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAA GGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTGGCCTTCCGCAG TGTTTGTGTCCCTGGGTACTTAAGATTAGGGAGTGGTGATGACTCTTAAC GAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCC CTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACA GGGTTGGGGATAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTT TTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTATCCAC AGAGACCCGGCAACCATCCGATTTCTCAATTTTTTCCCCACCCTTCCCGC CTTTCTATTCCACAAAACCGCCATTGTCATCATGGCCCATCCCCAATGAG CCGCTGGGCACACCTCCCAGACGGGGTCGTGGCCGGGCAGAGGGGCCCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAAGCGCCCCTCACCTCCCGGATG GGGCGGCTGGCCAGGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0167 a0004c0005t0001g0167	1	250	0.0040	669	c.42 others(680): Show c.4299_*4300insCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGTGA GGGGCGCTTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGGGCCCCTCTGC CCGGCCACGACCCCGTCTGGGAGGTGTGCCCAGCGGCTCATTGGGGATGG GCCATGATGACAATGGCGGTTTTGTGGAATAGAAAGGCGGGAAGGGTGGG GAAAAAATTGAGAAATCGGATGGTTGCCGGGTCTCTGTGGATAGAAGTAG ACATGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCT TGGGATCCTGTTGATCTGTGACCTTATCCCCAACCCTGTGCTCTCTGAAA CATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATG TGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCA CCACTCCCTAATCTTAAGTACCCAGGGACACAAACACTGCGGAAGGCCAA GGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTT TATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCC CTCTGCGAGAAACACCCAAGAATGATCAATAAAAAAAAAAATAAATTAAT TAAAAAAAAAAAAAAAAAAAAAAAGGAACTGGCAG	IQSEC1	ENSG00000144711.17	transcript	ENST00000613206.2	protein_coding		359		chr3	TogoVar
IQSEC3_chr12_61767_183455	163304	C C	CCCTCCCT others(662): Show CCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACC GGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCT CCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG CCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCT CCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCC CTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCC CTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCACA GAACCGGACCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02280.hp1 HG01346.hp2 HG02280.hp1	a0003 a0005 a0003 a0005	a0003c0046 a0005c0031 a0003c0046 a0005c0031	a0003c0046t0001 a0005c0031t0001 a0003c0046t0001 a0005c0031t0001	a0003c0046t0001g0229 a0005c0031t0001g0057 a0003c0046t0001g0229 a0005c0031t0001g0057	2	282	0.0071	669	c.258 others(686): Show c.2584-159_2584-158insCCCTCCCTCCACAGAACCGGAGCCCTCC CCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAG AACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTC TCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACC GGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCT CCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG CCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCT CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCC CCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACC CCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTC	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(662): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAG GGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAG GAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGA AGAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAG GAGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAA GAGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAG GAAGAGGGGAGGAGAAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0077 a0001c0001t0059g0077	1	386	0.0026	669	c.-46 others(680): Show c.-4676_-4675insTCCCTTCTCCTCCCCTCTTCCTTTCTCCCTCCTC CTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCCTCCT CCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTCTCCT CCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCC CTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCCTC CTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTCCTCC TCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTT TCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTT TCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTC CCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTC CCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCC CTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTC CCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCC TCCTCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(662): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAG GGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAG GAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGA AGAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAG GAGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAA GAGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAG GAAGAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG02080.hp1 HG02109.hp1 others(3): Show HG01516.hp1 HG02080.hp1 HG02109.hp1 HG02300.hp1 HG02647.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0038 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0038 a0001c0001t0040 a0001c0001t0046 a0001c0005t0066	a0001c0001t0002g0172 a0001c0001t0004g0004 a0001c0001t0038g0063 others(3): Show a0001c0001t0002g0172 a0001c0001t0004g0004 a0001c0001t0038g0063 a0001c0001t0040g0062 a0001c0001t0046g0093 a0001c0005t0066g0154	6	386	0.0155	669	c.-46 others(680): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCTCCTC CTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCCTCCT CCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTCTCCT CCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCC CTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCCTC CTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTCCTCC TCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTT TCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTT TCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTC CCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTC CCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCC CTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTC CCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCC TCCTCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(662): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAG GGGAGGAGGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGA GAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAG AGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGA GGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGAGGAAA GAGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAG GAAGAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	386	0.0026	669	c.-46 others(680): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCTCCTC CTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCTCCTC CTCCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTCTC CTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTC CCCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCC TCCTCTCTCCTCCTCCCCTCCTCCTCTCCTCCTCCCCTCTTCTCTCCTCC TCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTT TCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTT TCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTC CCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTC CCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCC CTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTC CCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCC TCCTCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(662): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGGG GGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAG GAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGA AGAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAG GAGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAA GAGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAG GAAGAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0026 a0001c0017t0026	a0001c0017t0026g0109 a0001c0017t0026g0109	1	386	0.0026	669	c.-46 others(680): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCTCCTC CTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCCTCCT CCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTCTCCT CCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCC CTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCCTC CTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCCCTTCTCTCCTCC TCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTT TCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTT TCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTC CCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTC CCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCC CTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTC CCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCC TCCTCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(662): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTG TCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCT CTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	370	0.0027	669	c.-27 others(680): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LHFPL3_chr7_104323603_104913561	104824207	A A	ATAATATA others(662): Show ATAATATATAATATTATATATTATATATTATATATATAATATATATATTA TATATTATATATATAATATATATATTATATATTATATATATAATATATAT TATATATTATATATAATATATTATATATTATATATTATATATATAATATA TTATATATTATATATTATATATATATTATATTATATATTATATATAATTA TATATATTTTATATATTATATATTATATATTATATATTATATATTATATA TATTATATATTATATATTATATATTATATATATTATATATTATATATACA ATTATATATATTATATATATTATATATTATATAATATATTATATATATAA TATATATTATATATTATATATTATATAATATATTATATATATAATATATT ATATATTATATATTATATAATATATTATATATTATATATATTATATATTA TATATTATATATTATATATATAATATATATTATATATTATATATTATATA TATTATATATATTATATATATTATATATAATATATATAATTGTATATATA TTATATAATATATAATATATATAATATATAATATATAATATATAATATAT AATATATATAATATATTATATATAATATATAATATATAATATATATAATA TATTATATATAATATATAAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	86	0.0116	669	c.683 others(688): Show c.683-81980_683-81979insTAATATATAATATTATATATTATATA TTATATATATAATATATATATTATATATTATATATATAATATATATATTA TATATTATATATATAATATATATTATATATTATATATAATATATTATATA TTATATATTATATATATAATATATTATATATTATATATTATATATATATT ATATTATATATTATATATAATTATATATATTTTATATATTATATATTATA TATTATATATTATATATTATATATATTATATATTATATATTATATATTAT ATATATTATATATTATATATACAATTATATATATTATATATATTATATAT TATATAATATATTATATATATAATATATATTATATATTATATATTATATA ATATATTATATATATAATATATTATATATTATATATTATATAATATATTA TATATTATATATATTATATATTATATATTATATATTATATATATAATATA TATTATATATTATATATTATATATATTATATATATTATATATATTATATA TAATATATATAATTGTATATATATTATATAATATATAATATATATAATAT ATAATATATAATATATAATATATAATATATATAATATATTATATATAATA TATAATATATAATATATATAATATATTATATATAATATATAAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2			chr7	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(662): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGA GACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAA AATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCT GAGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCT CAAAAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAA AAGTACCTTCTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGC CCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCTC CCAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0348 a0002c0002t0002g0348	1	448	0.0022	669	c.56 others(680): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTAACT GGATATAACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGC TCTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAGC TCCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTTTA GTAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCCTGACC TCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGA GCCACTGCGCCTGGCGAGAACATTTTTTTTTTAACAGTTAATTGGCCGGG CGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGGT GGATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACATGGTGA AACCCCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGGG TGCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(662): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGA GACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAA AATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCT GAGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCT CAAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAAA GTACCTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGC CCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCTC CCAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0290 a0002c0002t0002g0290	1	448	0.0022	669	c.56 others(680): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTAA CTGGATATAACTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGC TCTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAGC TCCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTTTA GTAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCCTGACC TCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGA GCCACTGCGCCTGGCGAGAACATTTTTTTTTTAACAGTTAATTGGCCGGG CGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGGT GGATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACATGGTGA AACCCCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGGG TGCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(662): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGA GACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAA AATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCT GAGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCT CAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAAAG TACCTTCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGC CCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCTC CCAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02257.hp1 HG02630.hp2 others(3): Show HG01884.hp2 HG02257.hp1 HG02630.hp2 HG02896.hp1 HG02922.hp1 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0001 a0002c0011t0014 a0002c0002t0001 a0002c0011t0014	a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0232 others(3): Show a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0232 a0002c0002t0001g0344 a0002c0002t0001g0355 a0002c0011t0014g0422	6	448	0.0134	669	c.56 others(680): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTA ACTGGATATAACTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGC TCTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAGC TCCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTTTA GTAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCCTGACC TCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGA GCCACTGCGCCTGGCGAGAACATTTTTTTTTTAACAGTTAATTGGCCGGG CGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGGT GGATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACATGGTGA AACCCCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGGG TGCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(662): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATCC CAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGAG ACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAAA ATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCTG AGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCTC AAAAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAA AGTACCTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGC CCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCTC CCAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(49): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02165.hp2 HG02735.hp2 HG03654.hp2 HG04115.hp1 HG04184.hp2 NA18747.hp2 NA18945.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18955.hp2 NA18960.hp1 NA18962.hp1 NA18966.hp2 NA18971.hp1 NA18975.hp1 NA18979.hp1 NA18981.hp1 NA18983.hp1 NA18985.hp1 NA18990.hp1 NA18992.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19056.hp2 NA19064.hp2 NA19074.hp2 NA19077.hp1 NA19084.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0004c0008	a0001c0001t0001 a0002c0002t0023 a0002c0003t0003 others(3): Show a0001c0001t0001 a0002c0002t0023 a0002c0003t0003 a0002c0003t0006 a0002c0003t0019 a0004c0008t0006	a0001c0001t0001g0106 a0001c0001t0001g0162 a0001c0001t0001g0279 others(45): Show a0001c0001t0001g0106 a0001c0001t0001g0162 a0001c0001t0001g0279 a0002c0002t0023g0314 a0002c0003t0003g0001 a0002c0003t0003g0006 a0002c0003t0003g0015 a0002c0003t0003g0067 a0002c0003t0003g0080 a0002c0003t0003g0087 a0002c0003t0003g0115 a0002c0003t0003g0137 a0002c0003t0003g0138 a0002c0003t0003g0139 a0002c0003t0003g0150 a0002c0003t0003g0151 a0002c0003t0003g0155 a0002c0003t0003g0156 a0002c0003t0003g0194 a0002c0003t0003g0195 a0002c0003t0003g0196 a0002c0003t0003g0214 a0002c0003t0003g0219 a0002c0003t0003g0239 a0002c0003t0003g0248 a0002c0003t0003g0249 a0002c0003t0003g0257 a0002c0003t0003g0259 a0002c0003t0003g0263 a0002c0003t0003g0288 a0002c0003t0003g0295 a0002c0003t0003g0300 a0002c0003t0003g0306 a0002c0003t0003g0326 a0002c0003t0003g0361 a0002c0003t0003g0386 a0002c0003t0003g0401 a0002c0003t0003g0407 a0002c0003t0003g0421 a0002c0003t0006g0030 a0002c0003t0006g0038 a0002c0003t0006g0039 a0002c0003t0006g0049 a0002c0003t0006g0052 a0002c0003t0006g0054 a0002c0003t0006g0055 a0002c0003t0019g0062 a0004c0008t0006g0019	52	448	0.1161	669	c.56 others(680): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTAAC TGGATATAACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTG CTCTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAG CTCCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTTT AGTAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCCTGAC CTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATG AGCCACTGCGCCTGGCGAGAACATTTTTTTTTAACAGTTAATTGGCCGGG CGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGGT GGATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACATGGTGA AACCCCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGGG TGCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(662): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATCC CAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGAG ACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAAA ATTAGCGGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCTG AGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCTC AAAAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAA AGTACCTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGC CCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCTC CCAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG02647.hp1 NA19240.hp1 HG01167.hp1 HG02647.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0230 a0002c0002t0002g0012 a0002c0002t0002g0230	3	448	0.0067	669	c.56 others(680): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTAAC TGGATATAACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTG CTCTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAG CTCCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCACGCTCCGCTAATTTTTTTGTATTTTT AGTAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCCTGAC CTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATG AGCCACTGCGCCTGGCGAGAACATTTTTTTTTAACAGTTAATTGGCCGGG CGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGGT GGATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACATGGTGA AACCCCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGGG TGCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LY75_chr2_159798355_159909756	159874319	G G	GTTTTGTA others(662): Show GTTTTGTAAATATATATAAATATATATATGTTTTGTAAATATATATAAAT ATATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATATACATAA ATATATATGTTTTGTAAATATATATAAATATATATATGTTTTGTAAATAT ATAAATATATATTTTGTAAATATATATATATTTTGTAAATATATATATAT TTTGTAAATATATATTGTAAATATATATAAATATATATTTTGTGAATTAT ATATATATTGTAAATTATATATATATTTTGTAAATATATATAGTAAATAT ATATATTTTGTAAATATGTATATATATTTTGTAAATATATATATTTTGTA AATATGTATATATATTTTGTAAATATATACATTTTGTAAATATATAAATA TATACATTTTGTAAATATATAAAAATATATACATTTTGTAAATATATAAA AATATATGTTGTAAATATATAAAAATATATATATTTTGTAAATATATAAA TATATATATTTTGTAAATATATATATATTTTGTAAATATATATAAATATA TACATATTTTGTAAATATATAAATATATACATATTTTGTAAATCTATATA AATATATACATATTTTGTAAATCTATATAAATATATACATATTTTGTAAA TCTATATAAATATATACATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01168.hp2 HG04184.hp2 others(3): Show HG00408.hp2 HG01168.hp2 HG04184.hp2 NA18961.hp2 NA18969.hp1 NA19091.hp1	a0002 a0007 a0010 others(1): Show a0002 a0007 a0010 a0011	a0002c0002 a0007c0007 a0010c0014 others(1): Show a0002c0002 a0007c0007 a0010c0014 a0011c0013	a0002c0002t0002 a0007c0007t0002 a0010c0014t0002 others(1): Show a0002c0002t0002 a0007c0007t0002 a0010c0014t0002 a0011c0013t0001	a0002c0002t0002g0069 a0007c0007t0002g0100 a0010c0014t0002g0117 others(3): Show a0002c0002t0002g0069 a0007c0007t0002g0100 a0010c0014t0002g0117 a0010c0014t0002g0123 a0011c0013t0001g0095 a0011c0013t0001g0101	6	330	0.0182	669	c.197 others(688): Show c.1974+1124_1974+1125insTATGTATATATTTATATAGATTTACA AAATATGTATATATTTATATAGATTTACAAAATATGTATATATTTATATA GATTTACAAAATATGTATATATTTATATATTTACAAAATATGTATATATT TATATATATTTACAAAATATATATATATTTACAAAATATATATATTTATA TATTTACAAAATATATATATTTTTATATATTTACAACATATATTTTTATA TATTTACAAAATGTATATATTTTTATATATTTACAAAATGTATATATTTA TATATTTACAAAATGTATATATTTACAAAATATATATACATATTTACAAA ATATATATATTTACAAAATATATATACATATTTACAAAATATATATATTT ACTATATATATTTACAAAATATATATATAATTTACAATATATATATAATT CACAAAATATATATTTATATATATTTACAATATATATTTACAAAATATAT ATATATTTACAAAATATATATATATTTACAAAATATATATTTATATATTT ACAAAACATATATATATTTATATATATTTACAAAACATATATATTTATGT ATATTTACAAAACATATATATTTATATATATTTACAAAACATATATTTAT ATATATTTACAAAACATATATATATTTATATATATTTACAAAA	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
MICALL2_chr7_1429359_1464470	1446353	G G	GGAGTGAG others(662): Show GGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGT AGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGG GGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAG TGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGA GAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGA GAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGTGAGAGAAGGGGGGAGGA GGGGGAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGG GAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGG GAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAG GAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGA GGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGG GGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGG GGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGC AGTAGGGAGAGAAGAGTGAA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19088.hp2 NA18994.hp1 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0235 a0001c0002t0001g0236	2	280	0.0071	669	c.641 others(684): Show c.641+359_641+360insTTCACTCTTCTCTCCCTACTGCTCCGCCTC CTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCT CCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCC CCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCC TCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTC TCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACT CTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTCCCCCTCCTCCCCCC TTCTCTCACTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACT GCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCT CCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTC CCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTC CCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGC CTCCTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(662): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAAAATA TATAAAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATATATAAATATATAAAAATATATA TAAATATATATAAATATATATAAATATATATAAATATATATTTAGCTATA TTTATATCAGATAAAATGGATTAACAGTCAAAAACTGTAAAATGAGACAA AGAAGGCCATTATATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAA CTACTGTAAATATATATATTATATATATATAAAACCAAAACCAGAAGACC TAAATATATATATATATATATAAAAAACCAAAACCAGAGGACCTAAATAT ATATATATAAATATATAAATATATAAATATAAATATATAAATATATATAT ATAATTATATATATATATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATA TATATATATTTAGGTCTTCTGGTTTTGGTTTTATATATATATTTATATAT TTATATAAATATAAATATATAAATATATATAATTATATATATATTTAGGT CCTCTGGTTTTGGTTATATG	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	312	0.0032	669	c.293 others(688): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAAAATATATAAAAATA TATATATAAATATATATAAATATATATAAATATATATATAAATATATATA AATATATATAAATATATATATAAATATATAAAAATATATATAAATATATA TAAATATATATAAATATATATAAATATATATTTAGCTATATTTATATCAG ATAAAATGGATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCAT TATATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAA TATATATATTATATATATATAAAACCAAAACCAGAAGACCTAAATATATA TATATATATATAAAAAACCAAAACCAGAGGACCTAAATATATATATATAA ATATATAAATATATAAATATAAATATATAAATATATATATATAATTATAT ATATATATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATATATATATATT TAGGTCTTCTGGTTTTGGTTTTATATATATATTTATATATTTATATAAAT ATAAATATATAAATATATATAATTATATATATATTTAGGTCCTCTGGTTT TGGTTATATGTATATATATATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(662): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAAAATA TATATAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATAAATATATATAAATATATATAAATATATATTTAGCTATA TTTATATCAGATAAAATGGATTAACAGTCAAAAACTGTAAAATGAGACAA AGAAGGCCATTATATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAA CTACTGTAAATATATATATTATATATATATAAAACCAAAACCAGAAGACC TAAATATATATATATATATATAAAAAACCAAAACCAGAGGACCTAAATAT ATATATATAAATATATAAATATATAAATATAAATATATAAATATATATAT ATAATTATATATATATATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATA TATATATATTTAGGTCTTCTGGTTTTGGTTTTATATATATATTTATATAT TTATATAAATATAAATATATAAATATATATAATTATATATATATTTAGGT CCTCTGGTTTTGGTTATATG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02897.hp2 HG02015.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0303 a0001c0001t0001g0242 a0001c0001t0001g0303	2	312	0.0064	669	c.293 others(688): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAAAATATATATAAATA TATATATAAATATATATAAATATATATAAATATATATATAAATATATATA AATATATATAAATATATATATAAATATATATAAATATATATAAATATATA TAAATATATATAAATATATATAAATATATATTTAGCTATATTTATATCAG ATAAAATGGATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCAT TATATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAA TATATATATTATATATATATAAAACCAAAACCAGAAGACCTAAATATATA TATATATATATAAAAAACCAAAACCAGAGGACCTAAATATATATATATAA ATATATAAATATATAAATATAAATATATAAATATATATATATAATTATAT ATATATATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATATATATATATT TAGGTCTTCTGGTTTTGGTTTTATATATATATTTATATATTTATATAAAT ATAAATATATAAATATATATAATTATATATATATTTAGGTCCTCTGGTTT TGGTTATATGTATATATATATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(662): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAAAATATATAAAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATAAATATATATAAATATATATTTAGCTATA TTTATATCAGATAAAATGGATTAACAGTCAAAAACTGTAAAATGAGACAA AGAAGGCCATTATATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAA CTACTGTAAATATATATATTATATATATATAAAACCAAAACCAGAAGACC TAAATATATATATATATATATAAAAAACCAAAACCAGAGGACCTAAATAT ATATATATAAATATATAAATATATAAATATAAATATATAAATATATATAT ATAATTATATATATATATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATA TATATATATTTAGGTCTTCTGGTTTTGGTTTTATATATATATTTATATAT TTATATAAATATAAATATATAAATATATATAATTATATATATATTTAGGT CCTCTGGTTTTGGTTATATG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG04115.hp2 HG02523.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0229 a0001c0001t0001g0216 a0001c0001t0001g0229	2	312	0.0064	669	c.293 others(688): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAAAATA TATAAAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATAAATATATATAAATATATATTTAGCTATATTTATATCAG ATAAAATGGATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCAT TATATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAA TATATATATTATATATATATAAAACCAAAACCAGAAGACCTAAATATATA TATATATATATAAAAAACCAAAACCAGAGGACCTAAATATATATATATAA ATATATAAATATATAAATATAAATATATAAATATATATATATAATTATAT ATATATATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATATATATATATT TAGGTCTTCTGGTTTTGGTTTTATATATATATTTATATATTTATATAAAT ATAAATATATAAATATATATAATTATATATATATTTAGGTCCTCTGGTTT TGGTTATATGTATATATATATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYOM2_chr8_2040046_2150456	2086189	A A	ATGATCTC others(662): Show ATGATCTCTTTGTGGCCCCCCACTGTTGTGATCTTTGCGTGGCCCCCCAC TGTCATGATCTCTGGCACCCCACTGTCGTGATCTCCGCGTGGCCCCCCAC AGTCGTGATCTCTGCGTGGCCTCCCACTGTTGTGATCTCTGCGTGGCCCC CTACTGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGG CCCCCCACTGTCGTGATCTCTGCGTGGCACCCCACTGTCGTGATCTCTGC GTGGCCCCCCACTGTCGTGATCTCCGCGTGGCCCCCCACAGTCGTGATCT CTGCGTGGCCTCCCACTGTTGTGATCTCTGCGTGGCCCCCTACTGTCGTG ATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGT CGTGATCTCTGCGTGGCACCCCACTGTCGTGATCTCTGCGTGGCACCCCA CTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGTGTGGCCC CCCACTGTCGTGATCTCTGCGTGGCACCCCACTGTCGTGATCTCTGCGTG GCCCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCG TGGCACCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTC TGCGTGGCCCCCCACTGTTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0039 a0002c0016t0001g0039	1	403	0.0025	669	c.164 others(686): Show c.1644+807_1644+808insTTGTGGCCCCCCACTGTTGTGATCTTTG CGTGGCCCCCCACTGTCATGATCTCTGGCACCCCACTGTCGTGATCTCCG CGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCTCCCACTGTTGTGATC TCTGCGTGGCCCCCTACTGTCGTGATCTCTTTGTGGCCCCCCACTGTCGT GATCTCTGCGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCACCCCACTG TCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTCCGCGTGGCCCCCC ACAGTCGTGATCTCTGCGTGGCCTCCCACTGTTGTGATCTCTGCGTGGCC CCCTACTGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGT GGCCCCCCACTGTCGTGATCTCTGCGTGGCACCCCACTGTCGTGATCTCT GCGTGGCACCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGAT CTCTGTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCACCCCACTGTCG TGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGT CGTGATCTCTGCGTGGCACCCCACAGTCGTGATCTCTTTGTGGCCCCCCA CTGTTGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(662): Show CTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATGTATGTAT ACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTAT ACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATAC CGTATATATACACAGTATGTATACTGTGTATATATACACAGTATGTATAC TGCATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTATACTGT ATACATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTATG TATACTGTATATATACACTATACAGTATGTATACTGTATATATACACAAT ACAGTATGTATACTGTATATATACACAATACAGTATGTATACTGTATATA TACACACTACAGTATGTATACTGTATATATACACACAGTATGTATACTGT ATATATACACACAGTATGTATACTGTATATATACACACAGTATGTATACT GTATATATACACACAGTATGTATACTGTATATATACACACAGTATGTATA CTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0113 a0001c0003t0005g0113	1	362	0.0028	669	c.-75 others(688): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTGTGTATATATACAGTATACATACTGTAGTGTGTATATATA CAGTATACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTG TATATATACAGTATACATACTGTATAGTGTATATATACAGTATACATACT GCATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTATACAGTA TACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTATAC ATACTGTGTATATATACACAGTATACATACTGTGTATATATACGGTATAC ATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACAT ACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATAC TGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATACTG TGTATATATACGGTATACATACATACAGTATACATACATACAGTATACAT ACATACAGTATACATGCTGTATACAGTATACATGCTGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NOTCH1_chr9_136489433_136551048	136535645	T T	TCCCGGGG others(662): Show TCCCGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCC CTCCCAGGAGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCC CTCCCAGGGGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCC CTCCCAGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACT CAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCAC TCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGC ACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTGGAGGGGGGAG CACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGG AGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGTGGAGGGGG GAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGG GGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGGGG GGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGG GGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGGG GGGAGCACTCAGGATCCCTC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0156 a0001c0004t0005g0156	1	324	0.0031	669	c.140 others(686): Show c.140+8378_140+8379insGAGGGATCCTGAGTGCTCCCCCCCACCC ACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCTCCACC CACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACC CACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCTCCAC CCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCC ACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTC CACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCC TCCACCCACCCTGCACTCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCC CTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCC CTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGATCCTGAGTGCTCC CCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTG AGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTG AGTGCTCCCCCCGACCCACCCTGCACCCATTGCTCCTGGGAGGGATCCTG AGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCGGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535671	T T	TGGAGGGG others(662): Show TGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGG GTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCA GGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTG CAGGGTGGGTGGAGGGGGGATCACTCAGGATCCCTCCCAGGAGCAATGGG TGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGAGCAATG GGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGC AATGGGTGCAGGGTGGGTGG	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0234 a0001c0008t0003g0234	1	324	0.0031	669	c.140 others(686): Show c.140+8352_140+8353insCCACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCTC CTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGC TCCTGGGAGGGATCCTGAGTGATCCCCCCTCCACCCACCCTGCACCCATT GCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCA TTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACC CATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCA CCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTG CACTCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(662): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATA TACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATA TACTCTATAGTATATATAGTATATATACTATAGAGTATATATACTATATA TACTCTATAGTATATATAGTATATATACTATAGAGTATATATAGTATATA TAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATA TAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATA TAGTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	439	0.0023	669	c.-16 others(680): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATAGGATATATATAATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATA TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAG TATATATAGTATATATACTCTATAGTATATATAGTATATATACTATAGAG TATATATACTATATATACTCTATAGTATATATAGTATATATACTATAGAG TATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATAT ACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATAT ACTCTATAGTATATATAGTATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
PDCD6_chr5_266646_319974	318049	C C	CCCTCCCC others(662): Show CCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCT CTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCC ACTTTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCA CCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGC ACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCC CCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCC CCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTT CCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCCCCAGCCTCCACCTC CCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCACCTCCCACCCTTACC CTGCACCTCCCCCCATCTTTTACCTCCCTCCCACCCTGCATCTCCCCCAA CCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCC ACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACC TCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTC CATCTGCCCCCAACCCTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 NA19087.hp2 HG00609.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0151 a0001c0002t0001g0334 a0001c0002t0001g0151 a0001c0002t0001g0334	2	360	0.0056	669	c.35 others(680): Show c.3534_*3535insCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGC ACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCC CCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCACCTCCTCCCCAGCCT CCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCC TCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCC CCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCT CCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTC ACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCC CCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCA CCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCTCCCACC CTGCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCA CCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCC CCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTA CCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCA	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3076		chr5	TogoVar
PDCD6_chr5_266646_319974	318220	C C	CCAGCCTC others(662): Show CCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCT CCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCC CTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCC TCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCT CCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCAC CTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCT GCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCC ATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCC CAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTC CCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCTCCCCATCTT TTACCTCCCCCCACCCTCCATCTCCCCCAACCCTGCACCTCCCCCATCCT TCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCT CCCCCTGCACCTCCCGCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18994.hp1 NA19065.hp1 NA18943.hp2 NA18994.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0050 a0001c0002t0001g0006 a0001c0002t0001g0050	3	360	0.0083	669	c.37 others(680): Show c.3705_*3706insCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCC CCCCGCACCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTT ACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCT TCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCA CCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCC CCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCT CCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCA CCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCAC CCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCA ACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCC CTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGC ACCTCTCCCCATCTTTTACCTCCCCCCACCCTCCATCTCCCCCAACCCTG CACCTCCCCCATCCTTCACCTCCCCCACTCACCCTCCACCTCCCCCCCAC CCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3247		chr5	TogoVar
PDXK_chr21_43714129_43767299	43741188	G G	GGGGGGCT others(662): Show GGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGG CGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCG CGGGGGGGCTCGCGGGGGGCTGGCGGGGGCCTCGCGGGGGGGCTCGCGGG GGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCT GGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGG GGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGC TCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGC GGGGGGGCTGGCGGGGGGCTCGCGGGCTCGCGGGGGGCTGGCGGGGGGCT CGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTGGC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	358	0.0028	669	c.143 others(684): Show c.143-474_143-473insCTCGCGGGGGGCTGGCGGGGGGCTCGCGGG GGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGC TGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGG GGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGGC TCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGCCTCGCG GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGC GGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGG GGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGG CGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGG GGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCT CGCGGGGGGCTCGCGGGGGGGCTGGCGGGGGGCTCGCGGGCTCGCGGGGG GCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCG CGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
SBNO2_chr19_1102638_1179268	1164894	G G	GAGGAGGA others(662): Show GAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGA GGAACAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCTAG GACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGAGG AGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAG GAACAGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAGGAACAGGT GCTAAGACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGA GGAGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGG AGGAGGAGGAACAGGAGGAGGAGGAGGAATAGGAGGAGGAGGAGGAGGAG GAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGA GGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAA CAGGAGGAGGAGGAGGAGGAACAGCAGGAGGAGGAGGCACAGGAGGAGGA GGAGGAGGCACAGGAGGAGGAGGAGAAGCACAGGAGGAGGAGGAGGAACA GGAGGAGGAGGAGGAGGCAC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	203	0.0049	669	c.-12 others(688): Show c.-127+9277_-127+9278insGTGCCTCCTCCTCCTCCTCCTGTTCC TCCTCCTCCTCCTGTGCTTCTCCTCCTCCTCCTGTGCCTCCTCCTCCTCC TCCTGTGCCTCCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCTC CTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGT TCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTC CTCCTCCTCCTCCTATTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCT CCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTGT CTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCTTAGCACCTGT TCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTGTTCCTCCTC CTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCT CCTGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCCTAGCA CCTGTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(662): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTT CCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCC TCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCC CCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCC ACCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCT CCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTC CCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCC CTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	150	0.0067	669	c.77- others(686): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCC CCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCC CCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCT CCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCAC CCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(662): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTT CCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCC TCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCC CCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCC ACCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCT CCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTC CCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCC CTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	158	0.0063	669	c.22+ others(686): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCC CCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCC CCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCT CCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCAC CCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC24A3_chr20_19207642_19727926	19663413	C C	CTCCTCCT others(662): Show CTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCACCT CCTCCTCTACCTCCTGCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCTCCTCCACCTTCTCCTCCTCCTCCACCTCCTCCTCCTC CACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCT CCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCAC CTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCT CCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCACCTCCTCCTCC TCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTC CTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCT CCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTC CTCCTCCACCTCCACCTCCTCCTCCACCTCCACCTCCTCCTCCACCTCCA CCTCCACCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0139 a0002c0006t0002g0139	1	160	0.0063	669	c.688 others(686): Show c.688-2442_688-2441insACCTCCTCCTCCTCCACCTCCTCCTCCT CCTCCTCCACCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCACCTCC TCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTTCTCCTCCTCCTCCAC CTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCT CCTGCACCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCC TCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTC CTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCT CCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTC CACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCACCTCCTCCTCCACCTCCACCTCCT CCTCCACCTCCACCTCCACCTCCTCCTCCACTTCCTCCTCC	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(662): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAG GGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAG GAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGA AGAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAG GAGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAA GAGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAG GAAGAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02109.hp1 HG02300.hp2 others(1): Show HG02080.hp2 HG02109.hp1 HG02300.hp2 NA18964.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0039 a0001c0001t0001g0124 a0002c0003t0001g0063 others(1): Show a0001c0001t0001g0039 a0001c0001t0001g0124 a0002c0003t0001g0063 a0002c0003t0001g0114	4	350	0.0114	669	c.624 others(684): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCT CCTCCTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCC TCCTCCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTC TCCTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCC TCCCCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCT CCTCCTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTC CTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCT CCTTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCT CCTTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCT CCTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCT CCTCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCC TCCCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTAT TCTCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCC TTCCTCCTCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(662): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGGG GGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAG GAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGA AGAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAG GAGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAA GAGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAG GAAGAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0238 a0006c0010t0001g0238	1	350	0.0029	669	c.624 others(684): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCT CCTCCTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCC TCCTCCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTC TCCTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCC TCCCCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCT CCTCCTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCCCTTCTCTC CTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCT CCTTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCT CCTTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCT CCTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCT CCTCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCC TCCCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTAT TCTCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCC TTCCTCCTCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar

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Search Results (Total: 10000 hits)