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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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
CHRNA3_chr15_78590309_78625996	78599765	T T	TAGCACTT others(789): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCACCCCACCCACCGAC CTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGTA GTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGAG TTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGATG ACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAAAAATTAAAAAAAGG CTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAG AAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCA AGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAG CCACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATG AGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAA TCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCCACT GTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTC TTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCT CAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTC AAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01255.hp2 HG02056.hp1 others(8): Show HG01175.hp1 HG01255.hp2 HG02056.hp1 HG02145.hp1 HG02559.hp2 NA18977.hp2 NA18991.hp2 NA18992.hp1 NA19005.hp1 NA19009.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0048 a0001c0001t0001g0138 others(5): Show a0001c0001t0001g0012 a0001c0001t0001g0048 a0001c0001t0001g0138 a0001c0001t0001g0145 a0001c0001t0001g0160 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0214	11	410	0.0268	796	c.138 others(815): Show c.1389+1487_1389+1488insGGGATTACAGGTGTGAGCCACTGCGC CCGGCCAGTTTTACTATTCTTGAGTTTCATATAAATGGAATCACATAGTA TATAAACTTTTCCCGTAGCTGAGGCCGGGGCTGTTTGGTCCCTGATGTGT GGAACTTCAGTCTTAGCTGAAGAGTTTTGTATCCAGCTACTCTCTCTTTA AGTGAGGCTATGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCAGAT TGGAAGGCCAAAGCAGGAGGATTGCTTGAGGCCAGGAGTTAGAGACCAGC CTGGGCAACATAGTGAGACCTCATCTCTTAAAAGATAATAAATAATAAAA GTGAGGGGATGGGTAAAGTGGCTCATGCCTATAATCCCAGCACTTTGGGA GGCTGAGATGGGTAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGG CAACATGGCAAAACCCTATTTCTACCAAAAAAAATAAAAAAATAAAAGTG AGACTGCAATAAAATTTTTAGCCTTTTTTTAATTTTTTTTTTTTTTTTTT TTTGGGACAGTCTTGCTCTGTCATCCACATTGGAGTGCAGTGGAGCCATC GTAGCTCACTGTAGCCTCTAACTCCTGGGCTCAAGCGATCCTCCAACCTC AGCCTCCCAAATAGCTGGGACTACAGGTGTATGCCACCACACCCAGCTAA TTTTTTTTTTAATTTGAAGAGGTCGGTGGGTGGGGTGGGGGGGGGTCTCA CTGTGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAGTTCTCCTG CCTTGGCCTCCCAAAGTGCT	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	5/5			chr15	TogoVar
CHRNA3_chr15_78590309_78625996	78599765	T T	TAGCACTT others(789): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCACCCCACCCACCGAC CTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGTA GTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGAG TTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGATG ACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAAAAATTAAAAAAAGG CTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAG AAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCA AGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAG CCACTTTACCCATCCCGTCACTTTTATTATTTATTATCTTTTAAGAGATG AGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAA TCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCCACT GTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTC TTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCT CAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTC AAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02615.hp1 HG01346.hp1 HG02615.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0219 a0001c0004t0006g0227 a0001c0004t0006g0219 a0001c0004t0006g0227	2	410	0.0049	796	c.138 others(815): Show c.1389+1487_1389+1488insGGGATTACAGGTGTGAGCCACTGCGC CCGGCCAGTTTTACTATTCTTGAGTTTCATATAAATGGAATCACATAGTA TATAAACTTTTCCCGTAGCTGAGGCCGGGGCTGTTTGGTCCCTGATGTGT GGAACTTCAGTCTTAGCTGAAGAGTTTTGTATCCAGCTACTCTCTCTTTA AGTGAGGCTATGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCAGAT TGGAAGGCCAAAGCAGGAGGATTGCTTGAGGCCAGGAGTTAGAGACCAGC CTGGGCAACATAGTGAGACCTCATCTCTTAAAAGATAATAAATAATAAAA GTGACGGGATGGGTAAAGTGGCTCATGCCTATAATCCCAGCACTTTGGGA GGCTGAGATGGGTAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGG CAACATGGCAAAACCCTATTTCTACCAAAAAAAATAAAAAAATAAAAGTG AGACTGCAATAAAATTTTTAGCCTTTTTTTAATTTTTTTTTTTTTTTTTT TTTGGGACAGTCTTGCTCTGTCATCCACATTGGAGTGCAGTGGAGCCATC GTAGCTCACTGTAGCCTCTAACTCCTGGGCTCAAGCGATCCTCCAACCTC AGCCTCCCAAATAGCTGGGACTACAGGTGTATGCCACCACACCCAGCTAA TTTTTTTTTTAATTTGAAGAGGTCGGTGGGTGGGGTGGGGGGGGGTCTCA CTGTGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAGTTCTCCTG CCTTGGCCTCCCAAAGTGCT	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	5/5			chr15	TogoVar
CHRNA3_chr15_78590309_78625996	78599765	T T	TAGCACTT others(789): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCCACCCCACCCACCGA CCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGT AGACCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGA GTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGAT GACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAAAATTAAAAAAAGG CTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAG AAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCA AGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAG CCACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATG AGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAA TCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCCACT GTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTC TTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCT CAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTC AAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0233 a0001c0004t0009g0233	1	410	0.0024	796	c.138 others(815): Show c.1389+1487_1389+1488insGGGATTACAGGTGTGAGCCACTGCGC CCGGCCAGTTTTACTATTCTTGAGTTTCATATAAATGGAATCACATAGTA TATAAACTTTTCCCGTAGCTGAGGCCGGGGCTGTTTGGTCCCTGATGTGT GGAACTTCAGTCTTAGCTGAAGAGTTTTGTATCCAGCTACTCTCTCTTTA AGTGAGGCTATGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCAGAT TGGAAGGCCAAAGCAGGAGGATTGCTTGAGGCCAGGAGTTAGAGACCAGC CTGGGCAACATAGTGAGACCTCATCTCTTAAAAGATAATAAATAATAAAA GTGAGGGGATGGGTAAAGTGGCTCATGCCTATAATCCCAGCACTTTGGGA GGCTGAGATGGGTAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGG CAACATGGCAAAACCCTATTTCTACCAAAAAAAATAAAAAAATAAAAGTG AGACTGCAATAAAATTTTTAGCCTTTTTTTAATTTTTTTTTTTTTTTTTT TTGGGACAGTCTTGCTCTGTCATCCACATTGGAGTGCAGTGGAGCCATCG TAGCTCACTGTAGCCTCTAACTCCTGGGCTCAAGCGATCCTCCAACCTCA GCCTCCCAAATAGCTGGGTCTACAGGTGTATGCCACCACACCCAGCTAAT TTTTTTTTTAATTTGAAGAGGTCGGTGGGTGGGGTGGGGGGGGGGTCTCA CTGTGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAGTTCTCCTG CCTTGGCCTCCCAAAGTGCT	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	5/5			chr15	TogoVar
CHRNA3_chr15_78590309_78625996	78599765	T T	TAGCACTT others(789): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCCACCCCACCCACCGA CCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGT AGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGA GTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGAT GACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAAAATTAAAAAAAGG CTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAG AAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCA AGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAG CCACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATG AGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAA TCCTCCTGCTTTGGCCTTCCAAACTGCTGGGATTACAGGTGTGAGCCACT GTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTC TTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCT CAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTC AAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	410	0.0024	796	c.138 others(815): Show c.1389+1487_1389+1488insGGGATTACAGGTGTGAGCCACTGCGC CCGGCCAGTTTTACTATTCTTGAGTTTCATATAAATGGAATCACATAGTA TATAAACTTTTCCCGTAGCTGAGGCCGGGGCTGTTTGGTCCCTGATGTGT GGAACTTCAGTCTTAGCTGAAGAGTTTTGTATCCAGCTACTCTCTCTTTA AGTGAGGCTATGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCAGTT TGGAAGGCCAAAGCAGGAGGATTGCTTGAGGCCAGGAGTTAGAGACCAGC CTGGGCAACATAGTGAGACCTCATCTCTTAAAAGATAATAAATAATAAAA GTGAGGGGATGGGTAAAGTGGCTCATGCCTATAATCCCAGCACTTTGGGA GGCTGAGATGGGTAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGG CAACATGGCAAAACCCTATTTCTACCAAAAAAAATAAAAAAATAAAAGTG AGACTGCAATAAAATTTTTAGCCTTTTTTTAATTTTTTTTTTTTTTTTTT TTGGGACAGTCTTGCTCTGTCATCCACATTGGAGTGCAGTGGAGCCATCG TAGCTCACTGTAGCCTCTAACTCCTGGGCTCAAGCGATCCTCCAACCTCA GCCTCCCAAATAGCTGGGACTACAGGTGTATGCCACCACACCCAGCTAAT TTTTTTTTTAATTTGAAGAGGTCGGTGGGTGGGGTGGGGGGGGGGTCTCA CTGTGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAGTTCTCCTG CCTTGGCCTCCCAAAGTGCT	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	5/5			chr15	TogoVar
CHRNA3_chr15_78590309_78625996	78599765	T T	TAGCACTT others(789): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCCACCCCACCCACCGA CCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGT AGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGA GTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGAT GACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAAAATTAAAAAAAGG CTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAG AAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCA AGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAG CCACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATG AGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAA TCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCCACT GTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTC TTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCT CAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTC AAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG00741.hp1 others(12): Show HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01256.hp1 HG01256.hp2 HG01934.hp2 HG01952.hp2 HG02055.hp2 HG02109.hp2 HG02135.hp1 HG02976.hp2 HG03831.hp1 HG04115.hp2 HG06807.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0004t0006	a0001c0001t0001g0037 a0001c0001t0001g0139 a0001c0001t0001g0167 others(11): Show a0001c0001t0001g0037 a0001c0001t0001g0139 a0001c0001t0001g0167 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0212 a0001c0001t0002g0159 a0001c0001t0020g0107 a0001c0004t0006g0225	15	410	0.0366	796	c.138 others(815): Show c.1389+1487_1389+1488insGGGATTACAGGTGTGAGCCACTGCGC CCGGCCAGTTTTACTATTCTTGAGTTTCATATAAATGGAATCACATAGTA TATAAACTTTTCCCGTAGCTGAGGCCGGGGCTGTTTGGTCCCTGATGTGT GGAACTTCAGTCTTAGCTGAAGAGTTTTGTATCCAGCTACTCTCTCTTTA AGTGAGGCTATGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCAGAT TGGAAGGCCAAAGCAGGAGGATTGCTTGAGGCCAGGAGTTAGAGACCAGC CTGGGCAACATAGTGAGACCTCATCTCTTAAAAGATAATAAATAATAAAA GTGAGGGGATGGGTAAAGTGGCTCATGCCTATAATCCCAGCACTTTGGGA GGCTGAGATGGGTAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGG CAACATGGCAAAACCCTATTTCTACCAAAAAAAATAAAAAAATAAAAGTG AGACTGCAATAAAATTTTTAGCCTTTTTTTAATTTTTTTTTTTTTTTTTT TTGGGACAGTCTTGCTCTGTCATCCACATTGGAGTGCAGTGGAGCCATCG TAGCTCACTGTAGCCTCTAACTCCTGGGCTCAAGCGATCCTCCAACCTCA GCCTCCCAAATAGCTGGGACTACAGGTGTATGCCACCACACCCAGCTAAT TTTTTTTTTAATTTGAAGAGGTCGGTGGGTGGGGTGGGGGGGGGGTCTCA CTGTGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAGTTCTCCTG CCTTGGCCTCCCAAAGTGCT	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	5/5			chr15	TogoVar
CHRNA3_chr15_78590309_78625996	78599765	T T	TAGCACTT others(789): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCCACCCCACCCACCGA CCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGT AGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGA GTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGAT GACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAAAATTAAAAAAAGG CTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAG AAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCA AGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAG CCACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATG AGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAA TCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCCACT GTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTC TTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCT CAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTC AAGAATAGTAAAACTGGCCGGGTGCAGTGGCTCACACCTGTAATCCC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0123 a0001c0005t0004g0123	1	410	0.0024	796	c.138 others(815): Show c.1389+1487_1389+1488insGGGATTACAGGTGTGAGCCACTGCAC CCGGCCAGTTTTACTATTCTTGAGTTTCATATAAATGGAATCACATAGTA TATAAACTTTTCCCGTAGCTGAGGCCGGGGCTGTTTGGTCCCTGATGTGT GGAACTTCAGTCTTAGCTGAAGAGTTTTGTATCCAGCTACTCTCTCTTTA AGTGAGGCTATGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCAGAT TGGAAGGCCAAAGCAGGAGGATTGCTTGAGGCCAGGAGTTAGAGACCAGC CTGGGCAACATAGTGAGACCTCATCTCTTAAAAGATAATAAATAATAAAA GTGAGGGGATGGGTAAAGTGGCTCATGCCTATAATCCCAGCACTTTGGGA GGCTGAGATGGGTAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGG CAACATGGCAAAACCCTATTTCTACCAAAAAAAATAAAAAAATAAAAGTG AGACTGCAATAAAATTTTTAGCCTTTTTTTAATTTTTTTTTTTTTTTTTT TTGGGACAGTCTTGCTCTGTCATCCACATTGGAGTGCAGTGGAGCCATCG TAGCTCACTGTAGCCTCTAACTCCTGGGCTCAAGCGATCCTCCAACCTCA GCCTCCCAAATAGCTGGGACTACAGGTGTATGCCACCACACCCAGCTAAT TTTTTTTTTAATTTGAAGAGGTCGGTGGGTGGGGTGGGGGGGGGGTCTCA CTGTGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAGTTCTCCTG CCTTGGCCTCCCAAAGTGCT	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	5/5			chr15	TogoVar
CHRNA3_chr15_78590309_78625996	78599765	T T	TAGCACTT others(789): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCCACCCCACCCACCGA CCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGT AGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGA GTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGAT GACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAAAATTAAAAAAAGG CTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAG AAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCA AGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAG CCACTTTACCCATCCCGTCACTTTTATTATTTATTATCTTTTAAGAGATG AGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAA TCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCCACT GTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTC TTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCT CAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTC AAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0242 a0001c0004t0006g0242	1	410	0.0024	796	c.138 others(815): Show c.1389+1487_1389+1488insGGGATTACAGGTGTGAGCCACTGCGC CCGGCCAGTTTTACTATTCTTGAGTTTCATATAAATGGAATCACATAGTA TATAAACTTTTCCCGTAGCTGAGGCCGGGGCTGTTTGGTCCCTGATGTGT GGAACTTCAGTCTTAGCTGAAGAGTTTTGTATCCAGCTACTCTCTCTTTA AGTGAGGCTATGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCAGAT TGGAAGGCCAAAGCAGGAGGATTGCTTGAGGCCAGGAGTTAGAGACCAGC CTGGGCAACATAGTGAGACCTCATCTCTTAAAAGATAATAAATAATAAAA GTGACGGGATGGGTAAAGTGGCTCATGCCTATAATCCCAGCACTTTGGGA GGCTGAGATGGGTAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGG CAACATGGCAAAACCCTATTTCTACCAAAAAAAATAAAAAAATAAAAGTG AGACTGCAATAAAATTTTTAGCCTTTTTTTAATTTTTTTTTTTTTTTTTT TTGGGACAGTCTTGCTCTGTCATCCACATTGGAGTGCAGTGGAGCCATCG TAGCTCACTGTAGCCTCTAACTCCTGGGCTCAAGCGATCCTCCAACCTCA GCCTCCCAAATAGCTGGGACTACAGGTGTATGCCACCACACCCAGCTAAT TTTTTTTTTAATTTGAAGAGGTCGGTGGGTGGGGTGGGGGGGGGGTCTCA CTGTGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAGTTCTCCTG CCTTGGCCTCCCAAAGTGCT	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	5/5			chr15	TogoVar
CHRNA3_chr15_78590309_78625996	78599765	T T	TAGCACTT others(789): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCCCCACCCCACCCACC GACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCT GTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAG GAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGG ATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAATTAAAAAAAGG CTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAG AAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCA AGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAG CCACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATG AGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAA TCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCCACT GTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTC TTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCT CAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTC AAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA19003.hp2 NA19083.hp2 NA18970.hp1 NA19003.hp2 NA19083.hp2	a0001 a0008 a0001 a0008	a0001c0003 a0008c0018 a0001c0003 a0008c0018	a0001c0003t0003 a0008c0018t0003 a0001c0003t0003 a0008c0018t0003	a0001c0003t0003g0247 a0001c0003t0003g0275 a0008c0018t0003g0257 a0001c0003t0003g0247 a0001c0003t0003g0275 a0008c0018t0003g0257	3	410	0.0073	796	c.138 others(815): Show c.1389+1487_1389+1488insGGGATTACAGGTGTGAGCCACTGCGC CCGGCCAGTTTTACTATTCTTGAGTTTCATATAAATGGAATCACATAGTA TATAAACTTTTCCCGTAGCTGAGGCCGGGGCTGTTTGGTCCCTGATGTGT GGAACTTCAGTCTTAGCTGAAGAGTTTTGTATCCAGCTACTCTCTCTTTA AGTGAGGCTATGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCAGAT TGGAAGGCCAAAGCAGGAGGATTGCTTGAGGCCAGGAGTTAGAGACCAGC CTGGGCAACATAGTGAGACCTCATCTCTTAAAAGATAATAAATAATAAAA GTGAGGGGATGGGTAAAGTGGCTCATGCCTATAATCCCAGCACTTTGGGA GGCTGAGATGGGTAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGG CAACATGGCAAAACCCTATTTCTACCAAAAAAAATAAAAAAATAAAAGTG AGACTGCAATAAAATTTTTAGCCTTTTTTTAATTTTTTTTTTTTTTTTTT GGGACAGTCTTGCTCTGTCATCCACATTGGAGTGCAGTGGAGCCATCGTA GCTCACTGTAGCCTCTAACTCCTGGGCTCAAGCGATCCTCCAACCTCAGC CTCCCAAATAGCTGGGACTACAGGTGTATGCCACCACACCCAGCTAATTT TTTTTTTAATTTGAAGAGGTCGGTGGGTGGGGTGGGGGGGGGGGGTCTCA CTGTGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAGTTCTCCTG CCTTGGCCTCCCAAAGTGCT	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	5/5			chr15	TogoVar
CHRNA5_chr15_78560520_78600269	78599765	T T	TAGCACTT others(789): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCACCCCACCCACCGAC CTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGTA GACCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGAG TTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGATG ACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAAAAATTAAAAAAAGG CTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAG AAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCA AGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAG CCACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATG AGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAA TCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCCACT GTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTC TTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCT CAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTC AAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG01358.hp2 HG00597.hp1 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0009 a0001c0001t0007g0064 a0001c0001t0007g0009 a0001c0001t0007g0064	2	382	0.0052	796	c.65 others(807): Show c.6512_*6513insAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTT GAGTCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCCCCCC ACCCCACCCACCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGG TGGCATACACCTGTAGACCCAGCTATTTGGGAGGCTGAGGTTGGAGGATC GCTTGAGCCCAGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGC ACTCCAATGTGGATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAA AAAATTAAAAAAAGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTT TATTTTTTTTGGTAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTT GAACTCCTGGGCTCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGG GATTATAGGCATGAGCCACTTTACCCATCCCCTCACTTTTATTATTTATT ATCTTTTAAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACT CCTGGCCTCAAGCAATCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTA CAGGTGTGAGCCACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAG CTGGATACAAAACTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGACC AAACAGCCCCGGCCTCAGCTACGGGAAAAGTTTATATACTATGTGATTCC ATTTATATGAAACTCAAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCAC ACCTGTAATCCC	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding		4497		chr15	TogoVar
CHRNA5_chr15_78560520_78600269	78599765	T T	TAGCACTT others(789): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCACCCCACCCACCGAC CTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGTA GTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGAG TTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGATG ACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAAAAATTAAAAAAAGG CTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAG AAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCA AGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAG CCACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATG AGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAA TCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCCACT GTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTC TTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCT CAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTC AAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG02056.hp2 HG02145.hp1 others(8): Show HG01255.hp2 HG02056.hp2 HG02145.hp1 HG02559.hp2 HG02683.hp2 NA18977.hp2 NA18991.hp1 NA18992.hp2 NA19005.hp2 NA19009.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0038 a0001c0001t0001g0076 others(8): Show a0001c0001t0001g0005 a0001c0001t0001g0038 a0001c0001t0001g0076 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0125 a0001c0001t0001g0142 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0270 a0001c0001t0001g0280	11	382	0.0288	796	c.65 others(807): Show c.6512_*6513insAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTT GAGTCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCCCCCC ACCCCACCCACCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGG TGGCATACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATC GCTTGAGCCCAGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGC ACTCCAATGTGGATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAA AAAATTAAAAAAAGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTT TATTTTTTTTGGTAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTT GAACTCCTGGGCTCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGG GATTATAGGCATGAGCCACTTTACCCATCCCCTCACTTTTATTATTTATT ATCTTTTAAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACT CCTGGCCTCAAGCAATCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTA CAGGTGTGAGCCACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAG CTGGATACAAAACTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGACC AAACAGCCCCGGCCTCAGCTACGGGAAAAGTTTATATACTATGTGATTCC ATTTATATGAAACTCAAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCAC ACCTGTAATCCC	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding		4497		chr15	TogoVar
CHRNA5_chr15_78560520_78600269	78599765	T T	TAGCACTT others(789): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCACCCCACCCACCGAC CTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGTA GTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGAG TTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGATG ACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAAAAATTAAAAAAAGG CTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAG AAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCA AGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAG CCACTTTACCCATCCCGTCACTTTTATTATTTATTATCTTTTAAGAGATG AGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAA TCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCCACT GTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTC TTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCT CAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTC AAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	1	382	0.0026	796	c.65 others(807): Show c.6512_*6513insAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTT GAGTCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCCCCCC ACCCCACCCACCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGG TGGCATACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATC GCTTGAGCCCAGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGC ACTCCAATGTGGATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAA AAAATTAAAAAAAGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTT TATTTTTTTTGGTAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTT GAACTCCTGGGCTCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGG GATTATAGGCATGAGCCACTTTACCCATCCCGTCACTTTTATTATTTATT ATCTTTTAAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACT CCTGGCCTCAAGCAATCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTA CAGGTGTGAGCCACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAG CTGGATACAAAACTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGACC AAACAGCCCCGGCCTCAGCTACGGGAAAAGTTTATATACTATGTGATTCC ATTTATATGAAACTCAAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCAC ACCTGTAATCCC	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding		4497		chr15	TogoVar
CHRNA5_chr15_78560520_78600269	78599765	T T	TAGCACTT others(789): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCCACCCCACCCACCGA CCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGT AGACCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGA GTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGAT GACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAAAATTAAAAAAAGG CTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAG AAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCA AGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAG CCACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATG AGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAA TCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCCACT GTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTC TTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCT CAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTC AAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0021 a0001c0001t0027g0021	1	382	0.0026	796	c.65 others(807): Show c.6512_*6513insAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTT GAGTCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCCCCCC CACCCCACCCACCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTG GTGGCATACACCTGTAGACCCAGCTATTTGGGAGGCTGAGGTTGGAGGAT CGCTTGAGCCCAGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTG CACTCCAATGTGGATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAA AAAATTAAAAAAAGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTT TATTTTTTTTGGTAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTT GAACTCCTGGGCTCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGG GATTATAGGCATGAGCCACTTTACCCATCCCCTCACTTTTATTATTTATT ATCTTTTAAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACT CCTGGCCTCAAGCAATCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTA CAGGTGTGAGCCACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAG CTGGATACAAAACTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGACC AAACAGCCCCGGCCTCAGCTACGGGAAAAGTTTATATACTATGTGATTCC ATTTATATGAAACTCAAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCAC ACCTGTAATCCC	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding		4497		chr15	TogoVar
CHRNA5_chr15_78560520_78600269	78599765	T T	TAGCACTT others(789): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCCACCCCACCCACCGA CCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGT AGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGA GTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGAT GACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAAAATTAAAAAAAGG CTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAG AAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCA AGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAG CCACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATG AGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAA TCCTCCTGCTTTGGCCTTCCAAACTGCTGGGATTACAGGTGTGAGCCACT GTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTC TTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCT CAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTC AAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	382	0.0026	796	c.65 others(807): Show c.6512_*6513insAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTT GAGTCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCCCCCC CACCCCACCCACCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTG GTGGCATACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGAT CGCTTGAGCCCAGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTG CACTCCAATGTGGATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAA AAAATTAAAAAAAGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTT TATTTTTTTTGGTAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTT GAACTCCTGGGCTCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGG GATTATAGGCATGAGCCACTTTACCCATCCCCTCACTTTTATTATTTATT ATCTTTTAAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACT CCTGGCCTCAAGCAATCCTCCTGCTTTGGCCTTCCAAACTGCTGGGATTA CAGGTGTGAGCCACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAG CTGGATACAAAACTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGACC AAACAGCCCCGGCCTCAGCTACGGGAAAAGTTTATATACTATGTGATTCC ATTTATATGAAACTCAAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCAC ACCTGTAATCCC	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding		4497		chr15	TogoVar
CHRNA5_chr15_78560520_78600269	78599765	T T	TAGCACTT others(789): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCCACCCCACCCACCGA CCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGT AGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGA GTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGAT GACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAAAATTAAAAAAAGG CTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAG AAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCA AGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAG CCACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATG AGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAA TCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCCACT GTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTC TTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCT CAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTC AAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG00741.hp1 others(11): Show HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01256.hp1 HG01256.hp2 HG01934.hp1 HG01952.hp2 HG02055.hp1 HG02109.hp1 HG02135.hp2 HG02976.hp1 HG03710.hp2 HG06807.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0001 a0001c0001t0005 a0001c0001t0010	a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0113 others(11): Show a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0130 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0266 a0001c0001t0001g0289 a0001c0001t0005g0213 a0001c0001t0010g0062	14	382	0.0367	796	c.65 others(807): Show c.6512_*6513insAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTT GAGTCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCCCCCC CACCCCACCCACCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTG GTGGCATACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGAT CGCTTGAGCCCAGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTG CACTCCAATGTGGATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAA AAAATTAAAAAAAGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTT TATTTTTTTTGGTAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTT GAACTCCTGGGCTCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGG GATTATAGGCATGAGCCACTTTACCCATCCCCTCACTTTTATTATTTATT ATCTTTTAAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACT CCTGGCCTCAAGCAATCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTA CAGGTGTGAGCCACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAG CTGGATACAAAACTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGACC AAACAGCCCCGGCCTCAGCTACGGGAAAAGTTTATATACTATGTGATTCC ATTTATATGAAACTCAAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCAC ACCTGTAATCCC	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding		4497		chr15	TogoVar
CHRNA5_chr15_78560520_78600269	78599765	T T	TAGCACTT others(789): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCCACCCCACCCACCGA CCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGT AGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGA GTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGAT GACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAAAATTAAAAAAAGG CTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAG AAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCA AGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAG CCACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATG AGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAA TCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCCACT GTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTC TTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCT CAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTC AAGAATAGTAAAACTGGCCGGGTGCAGTGGCTCACACCTGTAATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0030 a0003c0003t0004g0030	1	382	0.0026	796	c.65 others(807): Show c.6512_*6513insAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTT GAGTCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCCCCCC CACCCCACCCACCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTG GTGGCATACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGAT CGCTTGAGCCCAGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTG CACTCCAATGTGGATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAA AAAATTAAAAAAAGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTT TATTTTTTTTGGTAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTT GAACTCCTGGGCTCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGG GATTATAGGCATGAGCCACTTTACCCATCCCCTCACTTTTATTATTTATT ATCTTTTAAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACT CCTGGCCTCAAGCAATCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTA CAGGTGTGAGCCACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAG CTGGATACAAAACTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGACC AAACAGCCCCGGCCTCAGCTACGGGAAAAGTTTATATACTATGTGATTCC ATTTATATGAAACTCAAGAATAGTAAAACTGGCCGGGTGCAGTGGCTCAC ACCTGTAATCCC	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding		4497		chr15	TogoVar
CHRNA5_chr15_78560520_78600269	78599765	T T	TAGCACTT others(789): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCCACCCCACCCACCGA CCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGT AGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGA GTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGAT GACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAAAATTAAAAAAAGG CTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAG AAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCA AGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAG CCACTTTACCCATCCCGTCACTTTTATTATTTATTATCTTTTAAGAGATG AGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAA TCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCCACT GTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTC TTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCT CAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTC AAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	1	382	0.0026	796	c.65 others(807): Show c.6512_*6513insAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTT GAGTCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCCCCCC CACCCCACCCACCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTG GTGGCATACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGAT CGCTTGAGCCCAGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTG CACTCCAATGTGGATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAA AAAATTAAAAAAAGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTT TATTTTTTTTGGTAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTT GAACTCCTGGGCTCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGG GATTATAGGCATGAGCCACTTTACCCATCCCGTCACTTTTATTATTTATT ATCTTTTAAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACT CCTGGCCTCAAGCAATCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTA CAGGTGTGAGCCACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAG CTGGATACAAAACTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGACC AAACAGCCCCGGCCTCAGCTACGGGAAAAGTTTATATACTATGTGATTCC ATTTATATGAAACTCAAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCAC ACCTGTAATCCC	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding		4497		chr15	TogoVar
CHRNA5_chr15_78560520_78600269	78599765	T T	TAGCACTT others(789): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCCCCACCCCACCCACC GACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCT GTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAG GAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGG ATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAATTAAAAAAAGG CTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAG AAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCA AGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAG CCACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATG AGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAA TCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCCACT GTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTC TTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCT CAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTC AAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA19003.hp1 NA19083.hp1 NA18970.hp1 NA19003.hp1 NA19083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0181 a0002c0002t0003g0185 a0002c0002t0003g0202 a0002c0002t0003g0181 a0002c0002t0003g0185 a0002c0002t0003g0202	3	382	0.0079	796	c.65 others(807): Show c.6512_*6513insAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTT GAGTCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCCCCCC CCCACCCCACCCACCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTG TGGTGGCATACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGG ATCGCTTGAGCCCAGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCAC TGCACTCCAATGTGGATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAA AAAATTAAAAAAAGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTT TATTTTTTTTGGTAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTT GAACTCCTGGGCTCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGG GATTATAGGCATGAGCCACTTTACCCATCCCCTCACTTTTATTATTTATT ATCTTTTAAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACT CCTGGCCTCAAGCAATCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTA CAGGTGTGAGCCACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAG CTGGATACAAAACTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGACC AAACAGCCCCGGCCTCAGCTACGGGAAAAGTTTATATACTATGTGATTCC ATTTATATGAAACTCAAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCAC ACCTGTAATCCC	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding		4497		chr15	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(789): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTC CTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTC CACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCT CTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0221 a0001c0002t0006g0221	1	270	0.0037	796	c.162 others(817): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCACC TCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCC CCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCT TCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCC CCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCT TCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTC CTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COMMD9_chr11_36267292_36294424	36287046	A A	ATATGTAT others(789): Show ATATGTATACTACATACTATGTATATCATATAGTATGTATACTACATACT ATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAGTAT GTATACTACATACTATGTATATCATATAGTATGTATACTACATACTATGT ATATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGTAT ACTACATACTATGTATATCATATAGTATGTATACTACATACTATGTATAT CATATAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTA CATACTATGTATATCATATAGTATGTATACTACATACTATGTATATCATA TAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTACATA CTATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAGT ATGTATACTACATACTATGTATATCATATAGTATGTATACTACATACTAT GTATATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGT ATACTACAATGTATATCATATAGTATGTATACTACATACTATGTATATCA TATAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTACA TACTATGTATATCATATAGTATGTATACTACATACTATGTATATCATATA GTATGTATACTACATACTATGTATATCATATAGTATGTATACTACATACT ATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAG	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	448	0.0022	796	c.51+ others(811): Show c.51+2315_51+2316insCTATATGATATACATAGTATGTAGTATACA TACTATATGATATACATAGTATGTAGTATACATACTATATGATATACATA GTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATACT ATATGATATACATAGTATGTAGTATACATACTATATGATATACATAGTAT GTAGTATACATACTATATGATATACATAGTATGTAGTATACATACTATAT GATATACATTGTAGTATACATACTATATGATATACATAGTATGTAGTATA CATACTATATGATATACATAGTATGTAGTATACATACTATATGATATACA TAGTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATA CTATATGATATACATAGTATGTAGTATACATACTATATGATATACATAGT ATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATACTAT ATGATATACATAGTATGTAGTATACATACTATATGATATACATAGTATGT AGTATACATACTATATGATATACATAGTATGTAGTATACATACTATATGA TATACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAGTA TACATACTATATGATATACATAGTATGTAGTATACATACTATATGATATA CATAGTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACA TACTATATGATATACATAGTATGTAGTATACATACTATATGATATACATA GTATGTAGTATACATA	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287120	T T	TACAATGT others(789): Show TACAATGTATATCATGTAGTATGTATACTACATACTATGTATATCATGTA GTATGTATACTACATACTATGTATATCATGTAGTATGTATACCACATACT ATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTAT GTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTAT GTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGT ATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTAT ATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATAC CACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCA TGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0270 a0001c0001t0002g0270	1	448	0.0022	796	c.51+ others(811): Show c.51+2241_51+2242insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT ATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTAC ATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGT GGTATACATACTACATGATATACATAGTATGTGGTATACATACTACATGA TATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTA TACATACTACATGATATACATAGTATGTGGTATACATACTACATGATATA CATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACA TACTACATGATATACATAGTATGTGGTATACATACTACATGATATACATA GTATGTAGTATACATACTACATGATATACATAGTATGTAGTATACATACT ACATGATATACATTGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287216	T T	TACTATGT others(789): Show TACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTA GTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACT ATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTAT GTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTAT GTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGT ATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTAT ATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATAC CACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCA TGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	448	0.0022	796	c.51+ others(811): Show c.51+2145_51+2146insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT ATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTAC ATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGT GGTATACATACTACATGATATACATAGTATGTGGTATACATACTACATGA TATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTA TACATACTACATGATATACATAGTATGTGGTATACATACTACATGATATA CATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACA TACTACATGATATACATAGTATGTGGTATACATACTACATGATATACATA GTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACT ACATGATATACATAGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
CRTC3_chr15_90524923_90650345	90647319	C C	CCTCCTCC others(789): Show CCTCCTCCTCTGCCACACCCCTACTCCTCCTCACCCATCCTCCTCCACAC CCCTTCTAGTCCACCACTCCCCCCTCCTCCTCCACACCCCTCCTCCTCCT CCACACTCTTACCCCTCCACACCCCTCCTCTTCCACCAGACCCCTCCTCC ACACCCCTCCCCCCACCTCACTTCTCCCCCTTCACACACCTCCTCAACCT TCACATCCCTCCCCCTCCACATCCCTTCCCCCTCCTCACCCCTCTCCCCT CATCACCTCTCCTCCTCCTCCACACCCATCATCCTCCACGCCCCTTCTCC TCACTCCTCCTCCTCCTGCACACCCCTTCTCCTCCTCACCCTTTGTCCTA CTCCACACCACTCCTCTGCCTCACCTCTTCTCTTCACCCCTTCTCCTCCT CCATACCCCTCCTTCTCAACTCTCCTCCTCCACACTCCTCCTCACCCCGT CCTCCTCCAAACCCTTCCCCCTCCTCTTGGTTCCTCCTCCACACCCCTCC TGCTCCACATCCCTCCCCCTCCACCCCCTCCACACCCCTCCTCTGCCTCA TGCCTCTTCCTCACCCCTCCTCCTCCACACCCCTCATCCTCCTCCACACC CCTCCTCCGCCTCACCCCTCCTCCGCCTCACCCCTCCTCCTCACCCCTTC TCCTCTCCACATCCCTCCTGCTCCACATCCCTCCTGCTTCACACCCCTCC CCCTCCTCCTTCACACCCCTCATCCTCCACACTCCTCCCCTCCACACCCC TCCTCCTCTACACCCCGCCTCCTCCTCCACACCCCTCCCCCTCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 NA18945.hp1 NA19010.hp1 others(1): Show HG02056.hp2 NA18945.hp1 NA19010.hp1 NA19060.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0200 others(1): Show a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0200 a0003c0003t0001g0184	4	276	0.0145	796	c.51 others(807): Show c.5179_*5180insCTCCTCCTCTGCCACACCCCTACTCCTCCTCACC CATCCTCCTCCACACCCCTTCTAGTCCACCACTCCCCCCTCCTCCTCCAC ACCCCTCCTCCTCCTCCACACTCTTACCCCTCCACACCCCTCCTCTTCCA CCAGACCCCTCCTCCACACCCCTCCCCCCACCTCACTTCTCCCCCTTCAC ACACCTCCTCAACCTTCACATCCCTCCCCCTCCACATCCCTTCCCCCTCC TCACCCCTCTCCCCTCATCACCTCTCCTCCTCCTCCACACCCATCATCCT CCACGCCCCTTCTCCTCACTCCTCCTCCTCCTGCACACCCCTTCTCCTCC TCACCCTTTGTCCTACTCCACACCACTCCTCTGCCTCACCTCTTCTCTTC ACCCCTTCTCCTCCTCCATACCCCTCCTTCTCAACTCTCCTCCTCCACAC TCCTCCTCACCCCGTCCTCCTCCAAACCCTTCCCCCTCCTCTTGGTTCCT CCTCCACACCCCTCCTGCTCCACATCCCTCCCCCTCCACCCCCTCCACAC CCCTCCTCTGCCTCATGCCTCTTCCTCACCCCTCCTCCTCCACACCCCTC ATCCTCCTCCACACCCCTCCTCCGCCTCACCCCTCCTCCGCCTCACCCCT CCTCCTCACCCCTTCTCCTCTCCACATCCCTCCTGCTCCACATCCCTCCT GCTTCACACCCCTCCCCCTCCTCCTTCACACCCCTCATCCTCCACACTCC TCCCCTCCACACCCCTCCTCCTCTACACCCCGCCTCCTCCTCCACACCCC TCCCCCTCACCT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1975		chr15	TogoVar
CSMD1_chr8_2930361_4999914	4258513	A A	AGGAGGGA others(789): Show AGGAGGGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGAGG GAGGGGAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGA GGGGAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGG GGAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGG AGGACGGAAGGAGGGAAGGAGGGAGGCGAGGCTAGAAGGAGGGAGGGATG GAGGGAGGGATGGAAGGATGGAGGGAGGAAAGAATGGAGGGAGGGAGGGA AGAATGGAGGGAGGGAGGGAGGGAAGAATGGAGGAAGGGAGGGAGGGAGG GAAGAATGGAGGAAGGGAGGGATGGAGGGAAGAATGGAGGGAGGGAGGGA GGGAGGGAAGAATGGAGGGAGGGAGGGAAGGAAGAATGGAGGGAGGTAAG AATGGAGGGAGGGAGGGAAGAATGCAGGGAGGGAGGGAGGGAAGAATGCA GAGAGGGAGGGAAGAATGGAAGAATGGAGGGAGGGAAGAATGGAGGGAGG GAAGAGTGGAAGAATGGAGAGAGGGAAGAGTGGAAGAATGGAGGGAGGGA AGAGTGGAAAAATGGAGGGAGCGAGTGAGGGAGGGAAGAATGGAAGAATG GAAGAATGGAGGGAGGGAAGAATGCAAGACTGGAGGGAGGGAAGAATGCA AGACTGGAGGGAGGGAAGAATGGAAGAATGGACGGAAGGAAGAGTGGAAG AATGGAGGGAGGGAGGGAGGGAGGGAGGCAGGGAAGAGTGGAACAAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	126	0.0079	796	c.415 others(817): Show c.415+161439_415+161440insATTGTTCCACTCTTCCCTGCCTCC CTCCCTCCCTCCCTCCCTCCATTCTTCCACTCTTCCTTCCGTCCATTCTT CCATTCTTCCCTCCCTCCAGTCTTGCATTCTTCCCTCCCTCCAGTCTTGC ATTCTTCCCTCCCTCCATTCTTCCATTCTTCCATTCTTCCCTCCCTCACT CGCTCCCTCCATTTTTCCACTCTTCCCTCCCTCCATTCTTCCACTCTTCC CTCTCTCCATTCTTCCACTCTTCCCTCCCTCCATTCTTCCCTCCCTCCAT TCTTCCATTCTTCCCTCCCTCTCTGCATTCTTCCCTCCCTCCCTCCCTGC ATTCTTCCCTCCCTCCCTCCATTCTTACCTCCCTCCATTCTTCCTTCCCT CCCTCCCTCCATTCTTCCCTCCCTCCCTCCCTCCCTCCATTCTTCCCTCC ATCCCTCCCTTCCTCCATTCTTCCCTCCCTCCCTCCCTTCCTCCATTCTT CCCTCCCTCCCTCCCTCCATTCTTCCCTCCCTCCCTCCATTCTTTCCTCC CTCCATCCTTCCATCCCTCCCTCCATCCCTCCCTCCTTCTAGCCTCGCCT CCCTCCTTCCCTCCTTCCGTCCTCCCCTCCCTCCCTCCCTCTGTCCTCCC CTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCTGTCCTCCCCT CCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCTGTCCTCCCCTCC CTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCCCTCCTTCCATCCTC CCCTCCCTCCCTCCCTCCCTCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4258514	G G	GGAGGGAG others(789): Show GGAGGGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGGAGG ACAGAGGGAGGGAGGTAGGGGAGGATGGAAGGAGGGAGGGAGGGGAGGAT GGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGAGGATGG AAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGAGGACGGAA GGAGGGAAGGAGGGAGGCGAGGCTAGAAGGAGGGAGGGATGGAGGGAGGG ATGGAAGGATGGAGGGAGGAAAGAATGGAGGGAGGGAGGGAAGAATGGAG GGAGGGAGGGAGGGAAGAATGGAGGAAGGGAGGGAGGGAGGGAAGAATGG AGGAAGGGAGGGAGGGAGGGAAGAATGGAGGGAAGAATGGAGGGAGGGAG GGAGGGAGGGAAGAATGGAGGGAGGGAGGGAAGGAAGAATGGAGGGAGGT AAGAATGGAGGGAGGGAGGGAAGAATGCAGGGAGGGAGGGAGGGAAGAAT GCAGAGAGGGAGGGAAGAATGGAAGAATGGAGGGAGGGAAGAATGGAGGG AGGGAAGAGTGGAAGAATGGAGAGAGGGAAGAGTGGAAGAATGGAGGGAG GGAAGAGTGGAAAAATGGAGGGAGCGAGTGAGGGAGGGAAGAATGGAAGA ATGGAAGAATGGAGGGAGGGAAGAATGCAAGACTGGAGGGAGGGAAGAAT GCAAGACTGGAGGGAGGGAAGAATGGAAGAATGGACGGAAGGAAGAGTGG AAGAATGGAGGGAGGGAGGGAGGGAGGGAGGCAGGGAAGAGTGGAAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp2 HG03098.hp1 HG03098.hp2	a0001 a0011 a0001 a0011	a0001c0002 a0011c0110 a0001c0002 a0011c0110	a0001c0002t0028 a0011c0110t0074 a0001c0002t0028 a0011c0110t0074	a0001c0002t0028g0005 a0011c0110t0074g0082 a0001c0002t0028g0005 a0011c0110t0074g0082	2	126	0.0159	796	c.415 others(817): Show c.415+161438_415+161439insGTTCCACTCTTCCCTGCCTCCCTC CCTCCCTCCCTCCCTCCATTCTTCCACTCTTCCTTCCGTCCATTCTTCCA TTCTTCCCTCCCTCCAGTCTTGCATTCTTCCCTCCCTCCAGTCTTGCATT CTTCCCTCCCTCCATTCTTCCATTCTTCCATTCTTCCCTCCCTCACTCGC TCCCTCCATTTTTCCACTCTTCCCTCCCTCCATTCTTCCACTCTTCCCTC TCTCCATTCTTCCACTCTTCCCTCCCTCCATTCTTCCCTCCCTCCATTCT TCCATTCTTCCCTCCCTCTCTGCATTCTTCCCTCCCTCCCTCCCTGCATT CTTCCCTCCCTCCCTCCATTCTTACCTCCCTCCATTCTTCCTTCCCTCCC TCCCTCCATTCTTCCCTCCCTCCCTCCCTCCCTCCATTCTTCCCTCCATT CTTCCCTCCCTCCCTCCCTTCCTCCATTCTTCCCTCCCTCCCTCCCTTCC TCCATTCTTCCCTCCCTCCCTCCCTCCATTCTTCCCTCCCTCCCTCCATT CTTTCCTCCCTCCATCCTTCCATCCCTCCCTCCATCCCTCCCTCCTTCTA GCCTCGCCTCCCTCCTTCCCTCCTTCCGTCCTCCCCTCCCTCCCTCCCTC TGTCCTCCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCTG TCCTCCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCTTCCATC CTCCCCTACCTCCCTCCCTCTGTCCTCCCCTCCCTCCCTCCTTCCATCCT CCCCTCCCTCCCTCCCTCCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4258514	G G	GGAGGGAG others(789): Show GGAGGGAGGGATGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGGAGG ACAGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGGAGGAT GGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGAGGATGG AAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGAGGACGGAA GGAGGGAAGGAGGGAGGCGAGGCTAGAAGGAGGGAGGGATGGAGGGAGGG ATGGAAGGATGGAGGGAGGAAAGAATGGAGGGAGGGAGGGAAGAATGGAG GGAGGGAGGGAGGGAAGAATGGAGGAAGGGAGGGAGGGAGGGAAGAATGG AGGAAGGGAGGGAGGGAGGGAAGAATGGAGGGAAGAATGGAGGGAGGGAG GGAGGGAGGGAAGAATGGAGGGAGGGAGGGAAGGAAGAATGGAGGGAGGT AAGAATGGAGGGAGGGAGGGAAGAATGCAGGGAGGGAGGGAGGGAAGAAT GCAGAGAGAGAGGGAAGAATGGAAGAATGGAGGGAGGGAAGAATGGAGGG AGGGAAGAGTGGAAGAATGGAGAGAGGGAAGAGTGGAAGAATGGAGGGAG GGAAGAGTGGAAAAATGGAGGGAGCGAGTGAGGGAGGGAAGAATGGAAGA ATGGAAGAATGGAGGGAGGGAAGAATGCAAGACTGGAGGGAGGGAAGAAT GCAAGACTGGAGGGAGGGAAGAATGGAAGAATGGACGGAAGGAAGAGTGG AAGAATGGAGGGAGGGAGGGAGGGAGGGAGGCAGGGAAGAGTGGAAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0018 a0018	a0018c0044 a0018c0044	a0018c0044t0064 a0018c0044t0064	a0018c0044t0064g0085 a0018c0044t0064g0085	1	126	0.0079	796	c.415 others(817): Show c.415+161438_415+161439insGTTCCACTCTTCCCTGCCTCCCTC CCTCCCTCCCTCCCTCCATTCTTCCACTCTTCCTTCCGTCCATTCTTCCA TTCTTCCCTCCCTCCAGTCTTGCATTCTTCCCTCCCTCCAGTCTTGCATT CTTCCCTCCCTCCATTCTTCCATTCTTCCATTCTTCCCTCCCTCACTCGC TCCCTCCATTTTTCCACTCTTCCCTCCCTCCATTCTTCCACTCTTCCCTC TCTCCATTCTTCCACTCTTCCCTCCCTCCATTCTTCCCTCCCTCCATTCT TCCATTCTTCCCTCTCTCTCTGCATTCTTCCCTCCCTCCCTCCCTGCATT CTTCCCTCCCTCCCTCCATTCTTACCTCCCTCCATTCTTCCTTCCCTCCC TCCCTCCATTCTTCCCTCCCTCCCTCCCTCCCTCCATTCTTCCCTCCATT CTTCCCTCCCTCCCTCCCTTCCTCCATTCTTCCCTCCCTCCCTCCCTTCC TCCATTCTTCCCTCCCTCCCTCCCTCCATTCTTCCCTCCCTCCCTCCATT CTTTCCTCCCTCCATCCTTCCATCCCTCCCTCCATCCCTCCCTCCTTCTA GCCTCGCCTCCCTCCTTCCCTCCTTCCGTCCTCCCCTCCCTCCCTCCCTC TGTCCTCCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCTG TCCTCCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCTTCCATC CTCCCCTCCCTCCCTCCCTCTGTCCTCCCCTCCCTCCCTCCTTCCATCCT CCCCTCCCTCCATCCCTCCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
DCLK2_chr4_150073445_150262438	150250868	A A	AACATCCC others(789): Show AACATCCCCCACATCCCCCCACACCCCCTCACCACACCCCCACACCACCA CATCCCTCACACCCCCACACCACACATCCCCACACACCCCCCACAACAAC CCACACATCCCCCACACCACACATCCCCACACCACACATCCCCCACACAC CAACCCACCCCCCACACCCCCACACCCCCCACACCACACATCCCCCACAC CACCCAACATCCCCCCACATCCCCCACACCCCCACACCCCCCCACACTCC CCCACACCCCCCCAAATCCCCCACACCCCCCAAATCCCCACACCCCCCAC ATCCCCCACACCCCCACATCCCCCACACCCCCCACATCCCCACACCCCCA CACATCCCCCACACCCCCACATCCCCCACACCCCCCAAATCCCCCACCCC CCCCACACCCCCACATCCCCCACACCCCCACACCCCCACACCCCCACACC CCCCCACATCCCCCACACCCCCCCACATCCCCCACACCCCCATCCCCCCC ACACCCCCCCACATCCCCCACACCCCCACATCCCCCACATCCCCCACACC CCCCCACTCCCCCCCACACCCCCCACATCCCCACACCCCCCATCCCCCAC ACCCCCATCCCACACACCCCCACACATCCCCCACACCCCACACCCCCCAC ATCCCACACACCCCACACCCCCACATCCCCCACACCCCACCACACCCCAC CCCCACATCCCCCACACCCCCACCCCCACATCCCCCCACACCCCCCACAT CCCCCACACATCCCCCACACCCCCACACATCCCCCCACACCCCCCAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0115 a0002c0002t0018g0115	1	116	0.0086	796	c.207 others(815): Show c.2073+1196_2073+1197insTCCCCCCACACCCCCTCACCACACCC CCACACCACCACATCCCTCACACCCCCACACCACACATCCCCACACACCC CCCACAACAACCCACACATCCCCCACACCACACATCCCCACACCACACAT CCCCCACACACCAACCCACCCCCCACACCCCCACACCCCCCACACCACAC ATCCCCCACACCACCCAACATCCCCCCACATCCCCCACACCCCCACACCC CCCCACACTCCCCCACACCCCCCCAAATCCCCCACACCCCCCAAATCCCC ACACCCCCCACATCCCCCACACCCCCACATCCCCCACACCCCCCACATCC CCACACCCCCACACATCCCCCACACCCCCACATCCCCCACACCCCCCAAA TCCCCCACCCCCCCCACACCCCCACATCCCCCACACCCCCACACCCCCAC ACCCCCACACCCCCCCACATCCCCCACACCCCCCCACATCCCCCACACCC CCATCCCCCCCACACCCCCCCACATCCCCCACACCCCCACATCCCCCACA TCCCCCACACCCCCCCACTCCCCCCCACACCCCCCACATCCCCACACCCC CCATCCCCCACACCCCCATCCCACACACCCCCACACATCCCCCACACCCC ACACCCCCCACATCCCACACACCCCACACCCCCACATCCCCCACACCCCA CCACACCCCACCCCCACATCCCCCACACCCCCACCCCCACATCCCCCCAC ACCCCCCACATCCCCCACACATCCCCCACACCCCCACACATCCCCCCACA CCCCCCACACATCCCCCACA	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DNAH17_chr17_78418697_78582396	78438432	A A	AGGAGGAG others(789): Show AGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAG GAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGGGAG GAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGG AGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGGGG AGGAGGAGGGAGGAGGGGGAGGAGGAGGAGGAGGGGGAGGAGGGAGGAGG GGGAGGAGGGAGGAGGGAGGAGGAGGGGGAGGGGGAGGAGGGAGGAGGAG GAGGAGGAGGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGA GGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGG AGGAGGGAGGGACGAGGAGGAGGAGGAAGGAGGAGGGAGGAAGGAGGAGG GAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGA GGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGG AGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAG GAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAG GAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGG GGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGA GGAGGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0076 a0076	a0076c0221 a0076c0221	a0076c0221t0001 a0076c0221t0001	a0076c0221t0001g0139 a0076c0221t0001g0139	1	252	0.0040	796	c.118 others(815): Show c.11806-565_11806-564insCTCCTCCCTCCTCCTCCTCCCTCCTC CCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCT CCTCCTCCTCCTCCCTCCTCCCCCCTCCTCCCTCCTCCTCCTCCTCCTCC TCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCC TCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCTC CTCCTCCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTC CCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCT CCCTCCTCCCTCCTCCTCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTCC TCCTCCTCGTCCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCT CCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCT CCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCCCTCCCCCTCC TCCTCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCCCTCCTCCTCCTC CTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCCTCCTCCT CCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCT CCCTCCTCCCTCCTCCTCCTCCTCCCCCTCCTCCCTCCTCCCTCCTCCTC CTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTC CCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
EXD3_chr9_137301896_137428162	137355435	T T	TGGAGGAA others(789): Show TGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGA AGGAGAAAGGAGGAAGGAGGACGGAGGAAGGAGGATGGAGGAAGGAGGAA GGAGGACGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGGAGGAA GGAGGATGGAGGAAGGAGGACGGAGGAAGGAGGATGGAGGAAGGAGGAAG GAGGATGGAGGAAGGGAGGATGGAGGAAGGAGGATGGAGGAAGGAGGAAG GAGGAAGGGAGGAAGGAGGATGGAGGAAGGGAGGAAGGAGGATGGAGGAA GGAGGAAGGAGGACGGAGGAAGGAGGAAGGAGGATGGAGGAAGGGAGGAT GGAGGAAGGAGGACGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGAGGAAG GAGAAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGGAGGAAGGAGGAA GGAGGAAGGAGGAAGGAGGATGGAGGAAGGGAGGATGGAGGAAGGAGAAA GGAGGAAGGAGAAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGAGGAAG GAGGAAGGAGGAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAG GAGGATGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGAAAGGAGGAAG GAGGACGGAGGAAGGAGGAAGGGAGGAAGGAGGATGGAGGAAGGAGGAAG GAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGG AGGAAGGAGGAAGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGAGGAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0036	1	82	0.0122	796	c.758 others(811): Show c.758-663_758-662insTTCCTCCTTCCTCCTTCCTCCTTTCTCCTT CCTCCTTCCTCCTTCCTCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTC CTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCCTTC CTCCTTCCTCCGTCCTCCTTCCTCCTTTCTCCTTCCTCCCTTTCTCCTTC CTCCTTCCTCCATCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTC CTCCTTCCTCCTTCCTCCTTCCTCCTTTCTCCTTCCTCCTTCCTCCTTCC TCCTTTCTCCTTCCTCCTTTCTCCTTCCTCCATCCTCCCTTCCTCCATCC TCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCC TCCCTTCCTCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTTCTCCTTCC TCCGTCCTCCTTCCTCCATCCTCCCTTCCTCCATCCTCCTTCCTCCTTCC TCCGTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCCTTCCTCCATCC TCCTTCCTCCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCATCC TCCCTTCCTCCATCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCGTCC TCCTTCCTCCATCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCCTCCATCC TCCTTCCTCCGTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCGTCCT CCTTCCTCCTTTCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCT CCTTTCTCCTTCCTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
GRTP1_chr13_113319163_113369130	113347263	T T	TGAGCGGA others(789): Show TGAGCGGATCTGGGAGGACCTCTGTGGCTGAGAACAGACCCGGGAGGACC TCTGTGGCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCAGACC CAGGAGCACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTG AGCGGATCTGGGAGGACCTCTGTGGCTGAGAACAGACCCGGGAGGACCTC TGTGGCCGAGAACAGATCCGGGAGGACCTCTGAAGCCGAGAGCAGACCCG GGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAG CAGACCCGGGAGGACCTCTGTGGCCGAGAACAGATCCGGGAGGACCTCTG AAGCCGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAG GACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCAAGAACA GATCCGGGAGGACCTCTGAAGCCGAGAGCAGACCCGGGAGGACCTCTGTG GCTGAGCGGATCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCAGGAGGA CCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGCGGATC TGGGAGGACCTCTGTGGCTGAGAACAGACCCGGGAGGACCTCTGTGGCCG AGAACAGATCCGGGAGGACCTCTGAAGCCGAGAGCAGACCCGGGAGGACC TCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCG GGAGGACCTCTGTGGCCAAGAACAGATCCGGGAGGACCTCTGAAGCC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	288	0.0035	796	c.466 others(813): Show c.466-2305_466-2304insGGCTTCAGAGGTCCTCCCGGATCTGTTC TTGGCCACAGAGGTCCTCCCGGGTCTGCTCTCTGCCACAGAGGTCCTCCC AGATCCGCTCAGCCACAGAGGTCCTCCCGGGTCTGCTCTCGGCTTCAGAG GTCCTCCCGGATCTGTTCTCGGCCACAGAGGTCCTCCCGGGTCTGTTCTC AGCCACAGAGGTCCTCCCAGATCCGCTCAGCCACAGAGGTCCTCCCGGGT CCACTGTCAGGCACAGAGGTCCTCCTGGGTCTGCTCTCTGCCACAGAGGT CCTCCCGGATCCGCTCAGCCACAGAGGTCCTCCCGGGTCTGCTCTCGGCT TCAGAGGTCCTCCCGGATCTGTTCTTGGCCACAGAGGTCCTCCCGGGTCT GCTCTCTGCCACAGAGGTCCTCCCAGATCCGCTCAGCCACAGAGGTCCTC CCGGGTCTGCTCTCGGCTTCAGAGGTCCTCCCGGATCTGTTCTCGGCCAC AGAGGTCCTCCCGGGTCTGCTCTCTGCCACAGAGGTCCTCCCAGATCCGC TCAGCCACAGAGGTCCTCCCGGGTCTGCTCTCGGCTTCAGAGGTCCTCCC GGATCTGTTCTCGGCCACAGAGGTCCTCCCGGGTCTGTTCTCAGCCACAG AGGTCCTCCCAGATCCGCTCAGCCACAGAGGTCCTCCCGGGTCCACTGTC AGGCACAGAGGTGCTCCTGGGTCTGCTCTCAGCCACAGAGGTCCTCCCGG GTCCACTGTCAGCCACAGAGGTCCTCCCGGGTCTGTTCTCAGCCACAGAG GTCCTCCCAGATCCGCTC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
IFFO2_chr1_18899280_18961676	18925844	A A	ATTGGTTG others(789): Show ATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGG TTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT TGGTTGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATG GATGGCTGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGTTGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGAGGGATGGA TTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGA TGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATTGGT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0003 a0006c0010t0003	a0006c0010t0003g0237 a0006c0010t0003g0237	1	376	0.0027	796	c.666 others(813): Show c.666-4724_666-4723insACCAATCCATCCATCCATCCATCCATCC ATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAACCAACCA ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAA TCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCAATCCATCCCTCCATCCATCCATCCATCCATCC AACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATC CATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATCC ATCCATCCATCCAGCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCC ATCCATCCATCCAACCAA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925844	A A	ATTGGTTG others(789): Show ATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTG GTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGA TTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATTGGTTGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATG GATGGATGGCTGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGTTGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGA GGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATG GATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATTGGT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0336 a0001c0001t0002g0336	1	376	0.0027	796	c.666 others(813): Show c.666-4724_666-4723insACCAATCCATCCATCCATCCATCCATCC ATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAA CCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAACCAACCA ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAA TCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATC CATCCAACCAATCCATCCCTCCATCCATCCATCCATCCATCCAACCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATC CATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATCCATCC ATCCATCCAGCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAA CCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAACCAATCCATCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCC ATCCATCCATCCAACCAA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925844	A A	ATTGGTTG others(789): Show ATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTG GTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGA TTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATTGGTTGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATG GATGGATGGCTGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGTTGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGAGGGA TGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATG GATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATTGGT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0334 a0001c0001t0002g0334	1	376	0.0027	796	c.666 others(813): Show c.666-4724_666-4723insACCAATCCATCCATCCATCCATCCATCC ATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAA CCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAACCAACCA ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAA TCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAATCCATCCCTCCATCCATCCATCCATCCATCCAACC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATC CATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATCCATCC ATCCATCCAGCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAA CCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAACCAATCCATCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCC ATCCATCCATCCAACCAA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33322429	T T	TATATATA others(789): Show TATATATATGCAGTATATATATATGAATATATATATGGAATATATATGGA ATATATATATGGAATATATATATGGAATATATATATGGAATATATATATG GAATATATATATATGTGGAATATATATATGGAATATATATATATGTGGAA TATATATATGGAATATATATATGGAATATATATATATGGAATATATATAT GGAATATATATATGGAATATATACATGGAATATATGTATATGGAATATAT ACATGGAATATATGTATATGGAATATATACATGGAATATGTGTATATGGA ATATATACATGGAATATATGTATATGGAATATATACATGGAATATATATA TGGAATATATACATGGAATATATATATGGAATATATACATGGAATATATA TATATAGAATATATACATGGAATATATATATATAGAATATATACATGGAA TATATATATGGAATATATACATGGAATATATATATATGGAATATATACAT GGAATATATACATGGAATATATACATGGAACATATACATGGAATATATAC ATGGAACATATACATGGAATATATATATATGGAACATATACGGAATATAT ATATGGAATATATATACGGAATATATATATATGGAATATATATACGGAAT ATATATATGGAATATATATACGGAATATATATATATGGAATATATATACG GAATATATATATATGGAATATATATACGGAATATATATATGGAATATATA TATGGAATATGTATATGGAATATATATATATGGAATATGTATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0247 a0002c0004t0002g0247	1	323	0.0031	796	c.-26 others(807): Show c.-2627_-2626insATATATATGCAGTATATATATATGAATATATATA TGGAATATATATGGAATATATATATGGAATATATATATGGAATATATATA TGGAATATATATATGGAATATATATATATGTGGAATATATATATGGAATA TATATATATGTGGAATATATATATGGAATATATATATGGAATATATATAT ATGGAATATATATATGGAATATATATATGGAATATATACATGGAATATAT GTATATGGAATATATACATGGAATATATGTATATGGAATATATACATGGA ATATGTGTATATGGAATATATACATGGAATATATGTATATGGAATATATA CATGGAATATATATATGGAATATATACATGGAATATATATATGGAATATA TACATGGAATATATATATATAGAATATATACATGGAATATATATATATAG AATATATACATGGAATATATATATGGAATATATACATGGAATATATATAT ATGGAATATATACATGGAATATATACATGGAATATATACATGGAACATAT ACATGGAATATATACATGGAACATATACATGGAATATATATATATGGAAC ATATACGGAATATATATATGGAATATATATACGGAATATATATATATGGA ATATATATACGGAATATATATATGGAATATATATACGGAATATATATATA TGGAATATATATACGGAATATATATATATGGAATATATATACGGAATATA TATATGGAATATATATATGGAATATGTATATGGAATATATATATATGGAA TATGTATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2540		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322429	T T	TATATATA others(789): Show TATATATATGCAGTATATATATATGAATATATATATGGAATATATATGGA ATATATATATGGAATATATATATGGAATATATATATGGAATATATATATG GAATATATATATGGAATATATATATGGAATATATATATATGTGGAATATA TATATGGAATATATATATATGTGGAATATATATATGGAATATATATATGG AATATATATATATGGAATATATATATGGAATATATATATGGAATATATAC ATGGAATATATGTATATGGAATATATACATGGAATATATGTATATGGAAT ATATACATGGAATATGTGTATATGGAATATATACATGGAATATATGTATA TGGAATATATACATGGAATATATATATGGAATATATACATGGAATATATA TATGGAATATATACATGGAATATATATATATGGAATATATACATGGAATA TATATATATGGAATATATACATGGAATATATATATATAGAATATATACAT GGAATATATATATGGAATATATACATGGAATATATATATATGGAATATAT ACATGGAACATATACATGGAATATATACATGGAACATATACATGGAATAT ATACATGGAACATATACATGGAATATATATATATGGAACATATACGGAAT ATATATATGGAATATATATACGGAATATATATATATGGAATATATATACG GAATATATATATGGAATATATATACGGAATATATATATATGGAATATATA TACGGAATATATATATATGGAATATATATACGGAATATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0192 a0002c0004t0002g0219 a0002c0004t0002g0192 a0002c0004t0002g0219	2	323	0.0062	796	c.-26 others(807): Show c.-2627_-2626insATATATATGCAGTATATATATATGAATATATATA TGGAATATATATGGAATATATATATGGAATATATATATGGAATATATATA TGGAATATATATATGGAATATATATATGGAATATATATATGGAATATATA TATATGTGGAATATATATATGGAATATATATATATGTGGAATATATATAT GGAATATATATATGGAATATATATATATGGAATATATATATGGAATATAT ATATGGAATATATACATGGAATATATGTATATGGAATATATACATGGAAT ATATGTATATGGAATATATACATGGAATATGTGTATATGGAATATATACA TGGAATATATGTATATGGAATATATACATGGAATATATATATGGAATATA TACATGGAATATATATATGGAATATATACATGGAATATATATATATGGAA TATATACATGGAATATATATATATGGAATATATACATGGAATATATATAT ATAGAATATATACATGGAATATATATATGGAATATATACATGGAATATAT ATATATGGAATATATACATGGAACATATACATGGAATATATACATGGAAC ATATACATGGAATATATACATGGAACATATACATGGAATATATATATATG GAACATATACGGAATATATATATGGAATATATATACGGAATATATATATA TGGAATATATATACGGAATATATATATGGAATATATATACGGAATATATA TATATGGAATATATATACGGAATATATATATATGGAATATATATACGGAA TATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2540		chr21	TogoVar
INO80_chr15_40973880_41121280	41031591	G G	GAGGAAGG others(789): Show GAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAA GGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGA GGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAA GGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGG AAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGA GGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGA GGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGG GAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGA GGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGG GAGGAAGGGAGGAAAGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0278 a0001c0001t0007g0278	1	282	0.0036	796	c.290 others(815): Show c.2908-3856_2908-3855insTTCTCCCTCCCTCCCTTCCTCCCTTC CTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCTTTCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTC CTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCT CCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTC CTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTC CTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCT CCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCT CCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCT CCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCC CTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCT TCCTCCCTTCCTCCCTTCCT	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(789): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAG GGAGGAGGGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGAG AGGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCA GGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGG AGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGG AGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCA GGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGG AGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGG GAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAG GAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGATGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGG CAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAG GAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGC AGGGAGGACGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAG AGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCA GGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02922.hp1 HG03195.hp2 others(3): Show HG00741.hp1 HG02922.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0003 a0001c0003t0004 a0001c0004t0002 others(2): Show a0001c0003t0003 a0001c0003t0004 a0001c0004t0002 a0001c0004t0012 a0001c0004t0021	a0001c0003t0003g0190 a0001c0003t0003g0191 a0001c0003t0004g0195 others(3): Show a0001c0003t0003g0190 a0001c0003t0003g0191 a0001c0003t0004g0195 a0001c0004t0002g0013 a0001c0004t0012g0166 a0001c0004t0021g0146	6	204	0.0294	796	c.978 others(813): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGCAGGGA GGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGAGA CAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGA GGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGA GGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCA GGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGG AGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGG AGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGG GGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGC AGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGG GCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGACGGGCAGGGA GGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGG CAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAA GGAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(789): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAG GGAGGAGGGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGAG AGGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCA GGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGG AGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGG AGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCA GGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGG AGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGG GAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAG GAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGATGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGG CAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAG GAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGC AGGGAGGACGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAG AGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCA GGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0032 a0001c0004t0002g0032	1	204	0.0049	796	c.978 others(813): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGCAGGGA GGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGAGA CAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGA GGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGA GGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCA GGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGG AGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGG AGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGG GGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGC AGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGG GCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGACGGGCAGGGA GGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGG CAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAA GGAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160367	G G	GGGGGCGC others(789): Show GGGGGCGCCTCTTGCTGTGTGATGCTGGGGGGCCTCTCCCTGTGTGATGC TGGGGGGGTCTCTTCCTGTGTGATGCTGGGGGGCCTCTCGCTGTGTGATG CTGGGGGGCCTCTCCCTGTGTGATGCTGGGGGCGTGTCTTCCTGTGTGAT GCTGGGGGGGTCTCTCCCTGTGTGATGCTGGGGGGGTCTCCCTGTGTGAT GCTGGGGGCGTGTCTTCCTGTGTGATGCTGGGGGCGTGTCTTCCTGTGTG ATGCTGGGGGCGTGTCTTCCTGTGTGATGCTGGGGGGCCTCTCGCTGTGT GATGCTGGGGGGCCTCTCCCTGTGTGATGCTGGGGGCGTGTCTTCCTGTG TGATGCTGGGGGGGGTCTCTCCCTGTGTGATGCTGGGGGCGTGTCTTCCT GTGTGATGCTGGGGGCGTGTCTTCCTGTGTGATGCTGGGGGGCCTCTCGC TGTGTGATGCTGGGGGGCCTCTCCCTGTGTGATGCTGGGGGCGTGTCTTC CTGTGTGATGCTGGGGGGGTCTCTCCCTGTGTGATGCTGGGGGGGTCTCC CTGTGTGATGCTGGGGGCGTGTCTTCCTGTGTGATGCTGGGGGCGTGTCT TCCTGTGTGACGCTGGGGGCGTGTCTTCCTGTGTGATGCTGGGGGGGCCT CTTCCTGTGTGATGCTGGGGAGGGTCTATTCCTGTGTCTTATTGAGGGGG CCTCTCCCTGTGTGATGCTGGGGGCGCCTCTTGCTGTGTGATGCTGGGGG GCCTCTCGCTGTGTGATGCTGGGGGGCCTCTTCCTGTGTGATGCTGC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0006 a0002c0016t0006	a0002c0016t0006g0052 a0002c0016t0006g0052	1	158	0.0063	796	c.222 others(815): Show c.2221-2838_2221-2837insCGCCTCTTGCTGTGTGATGCTGGGGG GCCTCTCCCTGTGTGATGCTGGGGGGGTCTCTTCCTGTGTGATGCTGGGG GGCCTCTCGCTGTGTGATGCTGGGGGGCCTCTCCCTGTGTGATGCTGGGG GCGTGTCTTCCTGTGTGATGCTGGGGGGGTCTCTCCCTGTGTGATGCTGG GGGGGTCTCCCTGTGTGATGCTGGGGGCGTGTCTTCCTGTGTGATGCTGG GGGCGTGTCTTCCTGTGTGATGCTGGGGGCGTGTCTTCCTGTGTGATGCT GGGGGGCCTCTCGCTGTGTGATGCTGGGGGGCCTCTCCCTGTGTGATGCT GGGGGCGTGTCTTCCTGTGTGATGCTGGGGGGGGTCTCTCCCTGTGTGAT GCTGGGGGCGTGTCTTCCTGTGTGATGCTGGGGGCGTGTCTTCCTGTGTG ATGCTGGGGGGCCTCTCGCTGTGTGATGCTGGGGGGCCTCTCCCTGTGTG ATGCTGGGGGCGTGTCTTCCTGTGTGATGCTGGGGGGGTCTCTCCCTGTG TGATGCTGGGGGGGTCTCCCTGTGTGATGCTGGGGGCGTGTCTTCCTGTG TGATGCTGGGGGCGTGTCTTCCTGTGTGACGCTGGGGGCGTGTCTTCCTG TGTGATGCTGGGGGGGCCTCTTCCTGTGTGATGCTGGGGAGGGTCTATTC CTGTGTCTTATTGAGGGGGCCTCTCCCTGTGTGATGCTGGGGGCGCCTCT TGCTGTGTGATGCTGGGGGGCCTCTCGCTGTGTGATGCTGGGGGGCCTCT TCCTGTGTGATGCTGCGGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHFPL3_chr7_104323603_104913561	104824176	A A	ATATATAT others(789): Show ATATATATAATATATATATTATATATTATATATATAATATATATATTATA TATTATATATATAATATATATATTATATATTATATATATAATATATAATA TATATTATATATATTATATTATATATTATATATATAATATATTATATATT ATATATATATTATATAATATATTATATATTATATATATATTATATTATAT ATTATATATAATTATATATATTTTATATATTATATATTATATATTATATA TTATATATTATATATATTATATATTATATATTATATATTATATATATTAT ATATTATATATTATATTTTATATATATTATATATTATATATACAATTATA TATATTATATATATTATATATTATATATATTATATATTATATAATATATA ATATATATTATATATTATATATTATATAATATATATATAATATATTATAT ATTATATATTATATAATATATTATATATAATATATATTATATATTATATA TTATATAATATATAATATATAATATATATTATATATATAATATATTATAT AATATATTATATATATAATATATTATATAATATATTATATATATAATATA TATTATATATAATATATATAATTGTATATATAATATATAATATATAATAT ATAATATATATAATATATAATATATAATATATATAATATATAATATATAA TATATAATATATATAATATATAATATATAATATATAATATATAATATATA AAATATATATATAAAATATATTATGTATTATATATTATATAATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01258.hp2 HG00323.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0067 a0001c0001t0002g0061 a0001c0001t0002g0067	2	86	0.0233	796	c.683 others(815): Show c.683-81995_683-81994insATTATATATTATATATATAATATATA TATTATATATTATATATATAATATATATATTATATATTATATATATAATA TATAATATATATTATATATATTATATTATATATTATATATATAATATATT ATATATTATATATATATTATATAATATATTATATATTATATATATATTAT ATTATATATTATATATAATTATATATATTTTATATATTATATATTATATA TTATATATTATATATTATATATATTATATATTATATATTATATATTATAT ATATTATATATTATATATTATATTTTATATATATTATATATTATATATAC AATTATATATATTATATATATTATATATTATATATATTATATATTATATA ATATATAATATATATTATATATTATATATTATATAATATATATATAATAT ATTATATATTATATATTATATAATATATTATATATAATATATATTATATA TTATATATTATATAATATATAATATATAATATATATTATATATATAATAT ATTATATAATATATTATATATATAATATATTATATAATATATTATATATA TAATATATATTATATATAATATATATAATTGTATATATAATATATAATAT ATAATATATAATATATATAATATATAATATATAATATATATAATATATAA TATATAATATATAATATATATAATATATAATATATAATATATAATATATA ATATATAAAATATATATATAAAATATATTATGTATTATATATTATATAAT ATATTATATATAATATATAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LINGO2_chr9_27932617_29218601	28189681	A A	AAGGAAGG others(789): Show AAGGAAGGGAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGGAGGAA GGAAGGAAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGG GAGGAAGAAAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGGAAGGAA GGGAGGAAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGG AAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGGA GGAAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGG GAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGGA GGAAGGAAGGGAGGAAGAAAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGG GAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAA GGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGAAGGAAGG AAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGAA GGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGAAGG AAGGAAGGGAGGAAGGAAGGGAGGAAGAAAGGAAGGAAGGAAGGGAGGAA GGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGG AAGGAAGGGAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGGGA GGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0021 a0001c0001t0031g0021	1	62	0.0161	796	c.-36 others(817): Show c.-36+105526_-36+105527insCCCTCCCTTCCTCCCTTCCTTCCT TCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTTCCTCC CTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCT TCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTTTCTTC CTCCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCT TCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTCCCTTC CTTCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCT CCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTC CTTCCTTCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCT TCCTTTCTTCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTC CTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCT CCCTCCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTCCCTTC CTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCT CCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCC CTTCCTTCCTTCCTTTCTTCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCT CCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCC CTTCCTTCCTCCCTCCCTTCCT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LRRC27_chr10_132327193_132386508	132364461	C C	CCACCCAC others(789): Show CCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTC ACACCCACCCACAATTACACCCACGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCAC ACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCC ACAATTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACAC CCACACTCACACCCACGCTTACACCCACCCTTACATCTACCTCCACACCC ACACTCACACCCACGCTTACACCCACCCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACAC CCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCAC ACCCACACTCACACCCACGCTTACACCCACCCTTACATCTACCTCCACAC CCACACTCACACCCACGCTTACACCCACCCTTACATCTACCTCCACACCC ACACTCACACCCACGCTTACACCCACCCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0263 a0001c0002t0001g0263	1	290	0.0035	796	c.129 others(813): Show c.1290-942_1290-941insTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTC ACACCCACCCACAATTACACCCACGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCAC ACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCC ACAATTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACAC CCACACTCACACCCACGCTTACACCCACCCTTACATCTACCTCCACACCC ACACTCACACCCACGCTTACACCCACCCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACAC CCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCAC ACCCACACTCACACCCACGCTTACACCCACCCTTACATCTACCTCCACAC CCACACTCACACCCACGCTTACACCCACCCTTACATCTACCTCCACACCC ACACTCACACCCACGCTTACACCCACCCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACAC CCACACTTACACCCACCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364461	C C	CCACGCTT others(789): Show CCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTT ACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TCACACCCACCCTTACATCTACCTCCACGCCCACACTCACACCCACCCAC ACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCC ACCCACACTCACACCCACCCTTACATCTACCTCCACGCCCACACTCACAC CCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACACCC ACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACAC CCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCAC ACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTC ACACCCACCCACACTCACACCCACCCACACTCACACCCACCCTTACATCT ACCTCCACACCCACACTTACACTCATGCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTCACACCCACCCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTCACACCCACCCTTACATCTACCTCCA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	290	0.0035	796	c.129 others(813): Show c.1290-960_1290-959insGCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTCACACCCACCCTTACATCTACCTCCACGCCC ACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACAC CCACACTCACACCCACCCACACTCACACCCACCCTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCC ACACCCACACTCACACCCACCCACACTCACACCCACCCTTACATCTACCT CCACGCCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTAC CTCCACACCCACACACCCACCCACACTTACACCCACGCTTACATCTACCT CCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTAC CTCCACACCCACACTCACACCCACGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTCACACCCACCCACACTCACACCCACCCACACTC ACACCCACCCTTACATCTACCTCCACACCCACACTTACACTCATGCTTAC ATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCCACCCTT ACATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCCACCC TTACATCTACCTCCACAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MBD3L3_chr19_7051207_7063676	7061789	A A	AATTATAT others(789): Show AATTATATAATATATAATTTATATATAATATAATTATATAATATATAATT TATATATAATATAATTATATAATATATAATTTATATATAATATAATTATA TAATATATAATTTATATATAATATAATTATATAATATATAAATTATATAT AATATAGAATATAATTATATAATATATAATTATATTCTATATAGAATATA ATTATATAATATATAATTATATTCTATAGAATATAATTATATAATATATA ATTATATTCTATAGAATATAATTATATAATATATAATTATATTCTATAGA ATATAATTATATAATATATAATTATATTCTATATTATATAATTATAATAT AATTATATAATATAATTATATTATATATAATTATATTAAATATATTATAT AATATATAATTATATTATATATTATATAATATATAATTATAATTATATAT TATATAATATATAATTATATTATATATTATATAATATATAATTATATTAT ATAATATATAATATATAATATAATTATATATTATATAATATATAATTATA TTATATATTATATAATATATAATTATATTATATATTATAATACATTTAAT ATAATTATATTATAGATTATAATCTATAATATAATTATATTAATAGTATT ATAATATATAATATATTATATATAATTATATTATAACATATTATATATAA TTATATTATAGATCATAATCTATAATATAATTATATATAATATGTTATAA TATATAATTATATTCTATATATAATTATATATAATATAATTATATTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	288	0.0035	796	c.-31 others(807): Show c.-3185_-3184insGAATATAATTATATTATATATAATTATATATAGA ATATAATTATATATTATAACATATTATATATAATTATATTATAGATTATG ATCTATAATATAATTATATATAATATGTTATAATATAATTATATATAATA TATTATATATTATAATACTATTAATATAATTATATTATAGATTATAATCT ATAATATAATTATATTAAATGTATTATAATATATAATATAATTATATATT ATATAATATATAATATAATTATATATTATATAATATATAATTATATTATA TATTATATATTATATAATATAATTATATATTATATAATATATAATATAAT TATATATTATATAATATATAATTATAATTATATATTATATAATATATAAT ATAATTATATATTATATAATATATTTAATATAATTATATATAATATAATT ATATTATATAATTATATTATAATTATATAATATAGAATATAATTATATAT TATATAATTATATTCTATAGAATATAATTATATATTATATAATTATATTC TATAGAATATAATTATATATTATATAATTATATTCTATAGAATATAATTA TATATTATATAATTATATTCTATATAGAATATAATTATATATTATATAAT TATATTCTATATTATATATAATTTATATATTATATAATTATATTATATAT AAATTATATATTATATAATTATATTATATATAAATTATATATTATATAAT TATATTATATATAAATTATATATTATATAATTATATTATATATAAATTAT ATATTATATAAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3114		chr19	TogoVar
MGAT5B_chr17_76863404_76955393	76925244	T T	TCCCCTCC others(789): Show TCCCCTCCCCGGCCCCTCCTTCCCCTCACCCTCCCCCTTCCCCTCCTCCC CTGCCCCCGCCGCCCTCGCCCCCTCCCCCCCTCCGCCCCTCCACCCCCGC CCCGCCTCCCCTCCCCCCTCCCCTCCTCCCTCCCCCCTCCCTCCCTCCCC GTCCCCTCCCCTCCCCTCCCCTCCACCCCTCCCCTCCCTCCCTCCCTTCC CTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTC CCCCCTTCCCCTCCCCTCCTCCCTCCACCCTCCCTTCCCCTCCCCCTCCC CTCCTCCCTCCCCTCCCCTCCCCTCTTCCCCTCCCCTCCCCTCCACCCTC CCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCCCC TCCCCTTCCCCCTCCCCTCCCCCCTCCCTTCCCCTCCCCCCCTTCCCCTC CCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTC CCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCCT TCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCCTCACCTCCC CTTCCCTCCCCCTCCCTTCCCCTCCCCTCCCCCCCTCCTCCCCCTCCCTT CCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTC CCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCA CTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCACCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0047 a0002c0002t0008g0047	1	278	0.0036	796	c.115 others(813): Show c.1157+156_1157+157insGGCCCCTCCTTCCCCTCACCCTCCCCCT TCCCCTCCTCCCCTGCCCCCGCCGCCCTCGCCCCCTCCCCCCCTCCGCCC CTCCACCCCCGCCCCGCCTCCCCTCCCCCCTCCCCTCCTCCCTCCCCCCT CCCTCCCTCCCCGTCCCCTCCCCTCCCCTCCCCTCCACCCCTCCCCTCCC TCCCTCCCTTCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCCCT CCCCTCCCCCTCCCCCCTTCCCCTCCCCTCCTCCCTCCACCCTCCCTTCC CCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTCTTCCCCTCCCCTC CCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCC TTCCCTCCCCCCTCCCCTTCCCCCTCCCCTCCCCCCTCCCTTCCCCTCCC CCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCCC TTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCC TCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCC CCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCCTCCCCCCCTCC TCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCC TCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCT CTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCACC CCTCCCCTCCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
NEDD4L_chr18_58039226_58406539	58209261	T T	TCCTCCCC others(789): Show TCCTCCCCCTCCTCCTCCACCTCCTCCTCGTCCTCCACCTCCATCTCCTC TCCATCCTCCTCCTCCACCTCCACCTCCTCCTCCCTCTCCTCCTCCCTCT CCTCCTCCTCCCCCTCCTCCTCGTCCTCTACCTCCTCCTCCTCCACCACC TCCATCTGCTCCTCCTCCTCCCCCTCCACCTCCCCCTCCCCCTCCTCCTC CCTCTCCTCCTCCCCCTCCACCTCCACCTCTTCCTCCCCGCCTCCTCCCC CACCCCCTCCTTCTCAACCTCCGCCTCCCCTTCCTCCTCATCATCCTCCA CCTCCACCTCCCCCTGTTCCTCCTCCTCCACCTCCACCCCCTCCTCCTCA TCCTCCACCCCCTCCTCCTCCTCCACCTCCACCTCCACCTCCTCATCCTG CACCTCCACGTCCTCCTCCCCCTCCACCTCCTCCTCCACCTGCACCTCCT CAACCTCCTCCTCCCCCTCCACCTCCCCCTCCTCCCCCTCCTCCTTAACC TCCGCCTCCACCTCCTCCTCCTCATCCTCCACTTCCACCTCCTCCTCCCC CTGGTCCTTCCCCTCCTCCTCCTCCACCTCCTCCTCCTCATCCTCCACCC CCTCCTCCTCATCCTCCACCCCCTCCTCCTCCACTTCTGCCTCCACCTCC TCCTCCTCATCCTGCACTTCCGCCTCCTCCTCCCCCTCCCCCTCCTCCAC CTCCACCTCCTCCTCCTCATCCTCCACCTGCTCCTCCTCATCCTCCACCT CCACCTCCTCCTCCTCCACCTCCTCCTTCTCCACCTCCACATCCTCC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0115 a0001c0001t0009g0115	1	118	0.0085	796	c.123 others(815): Show c.123-36166_123-36165insCCTCCCCCTCCTCCTCCACCTCCTCC TCGTCCTCCACCTCCATCTCCTCTCCATCCTCCTCCTCCACCTCCACCTC CTCCTCCCTCTCCTCCTCCCTCTCCTCCTCCTCCCCCTCCTCCTCGTCCT CTACCTCCTCCTCCTCCACCACCTCCATCTGCTCCTCCTCCTCCCCCTCC ACCTCCCCCTCCCCCTCCTCCTCCCTCTCCTCCTCCCCCTCCACCTCCAC CTCTTCCTCCCCGCCTCCTCCCCCACCCCCTCCTTCTCAACCTCCGCCTC CCCTTCCTCCTCATCATCCTCCACCTCCACCTCCCCCTGTTCCTCCTCCT CCACCTCCACCCCCTCCTCCTCATCCTCCACCCCCTCCTCCTCCTCCACC TCCACCTCCACCTCCTCATCCTGCACCTCCACGTCCTCCTCCCCCTCCAC CTCCTCCTCCACCTGCACCTCCTCAACCTCCTCCTCCCCCTCCACCTCCC CCTCCTCCCCCTCCTCCTTAACCTCCGCCTCCACCTCCTCCTCCTCATCC TCCACTTCCACCTCCTCCTCCCCCTGGTCCTTCCCCTCCTCCTCCTCCAC CTCCTCCTCCTCATCCTCCACCCCCTCCTCCTCATCCTCCACCCCCTCCT CCTCCACTTCTGCCTCCACCTCCTCCTCCTCATCCTGCACTTCCGCCTCC TCCTCCCCCTCCCCCTCCTCCACCTCCACCTCCTCCTCCTCATCCTCCAC CTGCTCCTCCTCATCCTCCACCTCCACCTCCTCCTCCTCCACCTCCTCCT TCTCCACCTCCACATCCTCC	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30			chr18	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(789): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAGGGGAGGGGAAGGGGGAGGGG AAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAA GGGGAGGGGGAGAGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGAGGGGGAG GGGAGGAGGGGGAGGAAGGGGAGGGAGGAGGGGAGGAGGGGGAGGGAGGA GGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGAGGG GAGGGGAGGAGGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGG AGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGG GGAGGGGGAGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGAGGGGAGGGG AGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGG AGGGGGAGGGGAGGAAAGGAAGGGAGGGAAGGGGAGGGGAGGAGTGGAGA GGAGGATGAGGGGAGGGGAGGGGAGGAGTGGAGAGGAGGGTAAGGGAAGG AAGCAGAGGAGGGAGGAGTGGAGAGGAGGGGAAGGGAGGGGAGGGGTGCG GGAGGGGAGGGGTGCGGGAGGGGAGGGTAAGGGAAGGGAGGGGAGGGTGG GGGAGGGGAGGGAAGAGGAGTGGAGAGGAGGAGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19080.hp1 NA18944.hp1 NA19080.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0189 a0001c0004t0001g0190 a0001c0004t0001g0189 a0001c0004t0001g0190	2	208	0.0096	796	c.279 others(811): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCTTCCCCTCCTCTCCAC TCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTCCCCTC CCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCCCTTCC TTTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCTCCCCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCC CTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCTCCCTCCCC TTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCCCCCTCCCC TCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCC TCCCTCTCCCCCTCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCC CCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTT CCCACCCCTCCCTTCTCCTTCCCCCTCCCCTTCCCTCCCTTCCCTTCTCC CCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
ODF3L2_chr19_458361_479983	479572	T T	TTTTGTAT others(789): Show TTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTC TCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGTGCCCGGCTAATTTTGTATTTTTAGTAGA GACGGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCG TGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAGCC ACCGTGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGGTTTCTCCAT GTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCTAATT TTGTATTTTTAGTAGAGACGGGGGTTTCTCCATGTTGGCCAGGCTGGTCT CGATCTCCTGACCTTGTGATCCGCCTTCCTCGGCCTCCCAAAGTGCTGGG ATGACAGGCGTGAGCCACCGTGCCCGGCTAATTTTGTATTTTTAGTAGAG ACGGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGT GATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAGCCA CCGTGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGGTTTCTCCATG TTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01109.hp1 HG02132.hp1 others(22): Show HG00621.hp1 HG01109.hp1 HG02132.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18940.hp2 NA18944.hp1 NA18955.hp2 NA18971.hp1 NA18979.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19007.hp2 NA19074.hp1 NA19081.hp2 NA19085.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0002c0002 a0004c0006 others(1): Show a0001c0001 a0002c0002 a0004c0006 a0007c0011	a0001c0001t0001 a0002c0002t0002 a0004c0006t0002 others(1): Show a0001c0001t0001 a0002c0002t0002 a0004c0006t0002 a0007c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0107 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0107 a0001c0001t0001g0108 a0002c0002t0002g0006 a0002c0002t0002g0013 a0002c0002t0002g0020 a0002c0002t0002g0100 a0002c0002t0002g0103 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0135 a0002c0002t0002g0138 a0004c0006t0002g0036 a0004c0006t0002g0101 a0007c0011t0001g0019	25	324	0.0772	796	c.-48 others(807): Show c.-4826_-4825insTTAGCCGGGCACGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGA CCAGCCTGGCCAACATGGAGAAACCCCCGTCTCTACTAAAAATACAAAAT TAGCCGGGCACGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCG AGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCAGCCTGGCCAACATG GAGAAACCCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCACGGTGGC TCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGAAGGCGGATCACAA GGTCAGGAGATCGAGACCAGCCTGGCCAACATGGAGAAACCCCCGTCTCT ACTAAAAATACAAAATTAGCCGGGCACGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGAC CAGCCTGGCCAACATGGAGAAACCCCCGTCTCTACTAAAAATACAAAATT AGCCGGGCACGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCGA GGCAGGCGGATCACGAGGTCAGGAGATCGAGACCAGCCTGGCCAACATGG AGAAACCCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCACGGTGGCT CACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAG GTCAGGAGATCGAGACCAGCCTGGCCAACATGGAGAAACCCCGTCTCTAC TAAAAATACAAA	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding		4590		chr19	TogoVar
PAK2_chr3_196734857_196837647	196811271	T T	TTCCTTCC others(789): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTAC CCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTAC CCTCCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCC CTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCT CCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCT TCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCC TTCCTTCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCTTCCCTC CCTCCCTTCCCTCCCTTCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCC TCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCC TTCCTTCCCTTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCC CTTCCCTCCCTTCCTTCCTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCCT CCCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCCTTCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0112 a0001c0001t0064g0112	1	178	0.0056	796	c.773 others(811): Show c.773+621_773+622insTTCCTTCCTTCCTTCCTTCCTTCCCTCCCT TCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTT CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT TCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTC CTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TTCCTTCCTTCCTTCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCCTCCCTTCCTTCCTTCCCTCCCTCCCTTCCCTCCCTTCC TTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCC CTTCCTTCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTCCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCTTCCTTCC TTCCTTCCTTCCCTCCCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCCTTC CTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCCT TCCTTCCCTTCCCTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PFKFB3_chr10_6197932_6240532	6206842	G G	GCAGCCAG others(789): Show GCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCA GAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCA CATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACT GGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGG CAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCT CACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGA CTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCA GGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTC CTCACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCA GACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGC CAGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGC TCCTCACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTC CAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCG GCCAGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGG GCTCCTCACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTT TCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0240	1	432	0.0023	796	c.76+ others(811): Show c.76+3506_76+3507insCAGCCAGGCAGAGGGGCTCCTCACATCCCA GACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGC CAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCAGAGAC ACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCC CAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACTGGGCA GCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCAGAG ACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACAT CCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACTGGG CAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCAG AGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCAC ATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACTG GGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGC AGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTC ACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGAC TGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAG GCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCC TCACATCCCAGACAAT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14			chr10	TogoVar
PLXNB2_chr22_50269979_50312646	50276351	A A	AGGGTGCA others(789): Show AGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGC CGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGG GGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTG GGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGGCGCTGTGGGCACGGCC GTGGATGGAGCCACAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGGAG CCACAGGGACGGGCGCTGTGGGCACGGCCGTGGATGGAGCGACAGGGAGG GGCGCTGTGGGCACGGCCGTGGGTGGAGCGACAGGGAGGGGGCGCTGTGG GCAGGGCTGTGGGTGGAGCCACAGGGACCGGCGCTGTGGGCACCGCCCTG GGTGCAGCCGCAGGGAGGGGGCACTGTGGGCACGGCCGTGGGTGCAGCCA CAGGGAGGGGGGCGCTGTGGGCATGGCCGTGGATGGAGTGACAGGGAGGG GGCACTGTGGGCACAGCCGTGGGTGGAGCCACAGGGACGGGCGCTGTGGG CACAGCCGTGGATGGAGCGACAGGGAGGGGCGCTGTGGGCACGGCCGTGG GTGGAGCGACAGGGAGGGGGCGCTGTGGGCAGGGCTGTGGGTGGAGCCAC AGGGACCGGCGCTGTGGGCATGGCCCTGGGTGCAGCCGCAGGGAGGGGGC GCTGTGGGCACGGCCGTGGGTGCAGCCACAGGGAGGGGGCGCTGTGGGCA TGGCCGTGGATGGAGTGACAGGGAGGGGGCGCTGTGGGCACGGCCGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0072 a0002c0072	a0002c0072t0002 a0002c0072t0002	a0002c0072t0002g0044 a0002c0072t0002g0044	1	302	0.0033	796	c.533 others(813): Show c.5337+277_5337+278insACGGCCGTGCCCACAGCGCCCCCTCCCT GTCACTCCATCCACGGCCATGCCCACAGCGCCCCCTCCCTGTGGCTGCAC CCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCAGGGCCAT GCCCACAGCGCCGGTCCCTGTGGCTCCACCCACAGCCCTGCCCACAGCGC CCCCTCCCTGTCGCTCCACCCACGGCCGTGCCCACAGCGCCCCTCCCTGT CGCTCCATCCACGGCTGTGCCCACAGCGCCCGTCCCTGTGGCTCCACCCA CGGCTGTGCCCACAGTGCCCCCTCCCTGTCACTCCATCCACGGCCATGCC CACAGCGCCCCCCTCCCTGTGGCTGCACCCACGGCCGTGCCCACAGTGCC CCCTCCCTGCGGCTGCACCCAGGGCGGTGCCCACAGCGCCGGTCCCTGTG GCTCCACCCACAGCCCTGCCCACAGCGCCCCCTCCCTGTCGCTCCACCCA CGGCCGTGCCCACAGCGCCCCTCCCTGTCGCTCCATCCACGGCCGTGCCC ACAGCGCCCGTCCCTGTGGCTCCACCCACGGCCGTGCCCACAGCGCCCCC TCCCTGTGGCTCCATCCACGGCCGTGCCCACAGCGCCCCCCTCCCTGCGG CTGCACCCTCGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCTC GGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCC ACAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCC CTCCCTGCGGCTGCACCC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36			chr22	TogoVar

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Search Results (Total: 8931 hits)