Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FLT4_chr5_180596506_180654600	180615933	C C	CTCCACTT others(567): Show CTCCACTTCCTTTTGGAGCACTGGGGCCTGCCGGTCACCTCCCTTCTCCA CTTCCGAAATCCACTGTCTTTCGGAGCACTGGGGCCCCGCCGGTCACCTC CCTTCTCCACTTCCGAAATCCACTTCCTTTTGGAGCACTGGGCCCCGCTG GTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTTGGAGCACTGGG CCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAACACTGTGGCCCC GCTGGTCAACTCCCATCTCCACTTCCGAAATCCACTTCCTTTCGGAGCAC TGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGC CCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGC TGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTG GGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCC GCCGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGG TCACCTCCCTTCTCCACTTCCGAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0251 a0002c0002t0001g0251	1	388	0.0026	574	c.321 others(591): Show c.3219+433_3219+434insTTTCGGAAGTGGAGAAGGGAGGTGACCA GCGGGGCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAGGTGACCGGCGGG CCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGACCAGCGGGACCCAG TGCTCCGAAAGGAAGTGGATTTCGGAAGTGGAGAAGGGAGGTGACCAGCG GGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCC CAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGACCGGCGGGGCCCAGTG CTCCGAAAGGAAGTGGATTTCGGAAGTGGAGATGGGAGTTGACCAGCGGG GCCACAGTGTTCCGAAAGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCC AGTGCTCCAAAAGGAAGTGGATTTCGGAAGTGGAGAAGGGAGGTGACCAG CGGGGCCCAGTGCTCCAAAAGGAAGTGGATTTCGGAAGTGGAGAAGGGAG GTGACCGGCGGGGCCCCAGTGCTCCGAAAGACAGTGGATTTCGGAAGTGG AGAAGGGAGGTGACCGGCAGGCCCCAGTGCTCCAAAAGGAAGTGGA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180616008	C C	CGGTCACC others(567): Show CGGTCACCTCCCTTCTCCACTTCCGAAATCCACTGTCTTTCGGAGCACTG GGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTT GGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCGAAATCCAC TTCCTTTTGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCT TTCGGAACACTGTGGCCCCGCTGGTCAACTCCCATCTCCACTTCCGAAAT CCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACT TCCTTTCGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTT TCGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCGAAATCC ACTTCCTTTCGGAGCACTGGGTCCCGCTGGTCACCTCCCTTCTCCACTTC CTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCG GAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCGAAATCCACT TCCTTTCGGAGCACTGGGTCCCGCT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG03239.hp1 others(6): Show HG00423.hp2 HG00558.hp2 HG03239.hp1 NA18747.hp1 NA18939.hp2 NA18950.hp2 NA19056.hp1 NA19070.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0002c0002 a0002c0008 a0001c0009 a0002c0002 a0002c0008	a0001c0009t0002 a0002c0002t0001 a0002c0002t0003 others(3): Show a0001c0009t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0018 a0002c0008t0004	a0001c0009t0002g0114 a0002c0002t0001g0072 a0002c0002t0001g0120 others(6): Show a0001c0009t0002g0114 a0002c0002t0001g0072 a0002c0002t0001g0120 a0002c0002t0001g0255 a0002c0002t0003g0076 a0002c0002t0004g0014 a0002c0002t0004g0203 a0002c0002t0018g0109 a0002c0008t0004g0324	9	388	0.0232	574	c.321 others(591): Show c.3219+358_3219+359insAGCGGGACCCAGTGCTCCGAAAGGAAGT GGATTTCGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCGA AAGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCCAGTGCTCCGAAAGGAA GTGGAGAAGGGAGGTGACCAGCGGGACCCAGTGCTCCGAAAGGAAGTGGA TTTCGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCGAAAG GAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCGAAAGGAAGT GGAGAAGGGAGGTGACCGGCGGGGCCCAGTGCTCCGAAAGGAAGTGGATT TCGGAAGTGGAGATGGGAGTTGACCAGCGGGGCCACAGTGTTCCGAAAGG AAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCAAAAGGAAGTG GATTTCGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCAAA AGGAAGTGGATTTCGGAAGTGGAGAAGGGAGGTGACCGGCGGGGCCCCAG TGCTCCGAAAGACAGTGGATTTCGGAAGTGGAGAAGGGAGGTGACC	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FMN2_chr1_240086883_240480187	240197755	G G	GTAGCGTA others(567): Show GTAGCGTAATCAAATAGCAGTATTAGCTAAGCAGTCACAATATGGAAGTG AAGTATTGATGAGAGAGAAAAACTTGCAATAATCACTATCAAGATGAGAG ATTGAAGATATAAAAATTGATGAACTCTCCCAGTATATAGAGAGGGGATA GTGGGCTAAGTACAAAGTCTCTACTCCACCCCTCAAAAAATCCCAGGGAG GAAACAGAGAAAGAAATGAGGAGGAGCAGTGTAAAACTATAGAAGCCAGA AGAAAAGAGTTCTAAGGGGGAAGGAATGATTAATAGTCTCAGATTCTTTG TAAAGGACAGGGTTAAATCTATAGTATTTGGCAATAAGGAAACCACGAGC AGTGCCGAGAGTAATTCCATTAGAGTGGCAGGGCCAAAAGGCAGCTCTAC CACTCCAGGTAATAGTCCAAATCCACTCCATTTGATTTTCTCCAGGCTTT ATTCTTTAGGAAGATTTTTCTTTTTCTTTTTCTTTTCTTTTTTTTTTTTT TTTTTTTTGAAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTG GCATGATCTTGGCTCACTGCAACCT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02976.hp1 HG03471.hp2 others(4): Show HG02723.hp2 HG02976.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG06807.hp1 NA19240.hp1	a0008 a0016 a0092 a0008 a0016 a0092	a0008c0019 a0008c0055 a0016c0011 others(2): Show a0008c0019 a0008c0055 a0016c0011 a0016c0027 a0092c0028	a0008c0019t0001 a0008c0019t0007 a0008c0055t0001 others(4): Show a0008c0019t0001 a0008c0019t0007 a0008c0055t0001 a0016c0011t0001 a0016c0011t0007 a0016c0027t0001 a0092c0028t0001	a0008c0019t0001g0133 a0008c0019t0007g0113 a0008c0055t0001g0079 others(4): Show a0008c0019t0001g0133 a0008c0019t0007g0113 a0008c0055t0001g0079 a0016c0011t0001g0159 a0016c0011t0007g0158 a0016c0027t0001g0160 a0092c0028t0001g0145	7	174	0.0402	574	c.198 others(593): Show c.1987-9044_1987-9043insTAGCGTAATCAAATAGCAGTATTAGC TAAGCAGTCACAATATGGAAGTGAAGTATTGATGAGAGAGAAAAACTTGC AATAATCACTATCAAGATGAGAGATTGAAGATATAAAAATTGATGAACTC TCCCAGTATATAGAGAGGGGATAGTGGGCTAAGTACAAAGTCTCTACTCC ACCCCTCAAAAAATCCCAGGGAGGAAACAGAGAAAGAAATGAGGAGGAGC AGTGTAAAACTATAGAAGCCAGAAGAAAAGAGTTCTAAGGGGGAAGGAAT GATTAATAGTCTCAGATTCTTTGTAAAGGACAGGGTTAAATCTATAGTAT TTGGCAATAAGGAAACCACGAGCAGTGCCGAGAGTAATTCCATTAGAGTG GCAGGGCCAAAAGGCAGCTCTACCACTCCAGGTAATAGTCCAAATCCACT CCATTTGATTTTCTCCAGGCTTTATTCTTTAGGAAGATTTTTCTTTTTCT TTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTGAAGACAGAGTCTCACTCT GTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCT	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	4/17			chr1	TogoVar
IDE_chr10_92446684_92579093	92524325	T T	TATTATAT others(567): Show TATTATATTATATATAATATATTTTATATAATATATAATATATATTATAT TATATATAATATATTTTATATAATATATAATATATATTATATTATATATA ATATATTTTATATAATATATAATATATATTATATTATATATAATATATTT TATATAATATATAATATATATTATATTATATATAATATATTTTATATAAT ATATAATATATATTATATTATATATAATATATTTTATATAATATATAATA TATATTATATTATATATAATATATTTTATATAATATATAGTAATATATAA TATATATTTATATAATATATAATATATATTTATATATATATATATATATA TATATTATATAATATATATTATATATATATTATATATATATATATTTTTA TATAATATATAATATATATTTATATAATATATATTATATATTATATAAAA TATATATTATATATAATATATATAATATATTTTATATAATATATAATATA TATTATATTATATATAATATATTTTATATAATATATAATATATATTATAT TATATATAATATATTTTATATAATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0271	1	314	0.0032	574	c.661 others(591): Show c.661+7422_661+7423insTATTATATAAAATATATTATATATAATA TAATATATATTATATATTATATAAAATATATTATATATAATATAATATAT ATTATATATTATATAAAATATATTATATATATTATATATAATATATATTT TATATAATATATAATATATATTATATAAATATATATTATATATTATATAA AAATATATATATATATAATATATATATAATATATATTATATAATATATAT ATATATATATATATATAAATATATATTATATATTATATAAATATATATTA TATATTACTATATATTATATAAAATATATTATATATAATATAATATATAT TATATATTATATAAAATATATTATATATAATATAATATATATTATATATT ATATAAAATATATTATATATAATATAATATATATTATATATTATATAAAA TATATTATATATAATATAATATATATTATATATTATATAAAATATATTAT ATATAATATAATATATATTATATATTATATAAAATATATTATATATAATA TAATATATATTATATATTATATAAAATATATTATATATAATATAAT	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24			chr10	TogoVar
JAKMIP1_chr4_6021199_6205549	6056046	G G	GGTGTCCC others(567): Show GGTGTCCCCAGAGGACAGGGCTGCCCTCCCCATTTCTGCAGAGTGTCCCT AGAGGTCGGGGCAGCCCTCCCCATTTCTGCAGGGTGTCCTTAGAGAACAA GGAAGCTCTCCCCATCTCTGCAGGGTGTCTGCAGAGGTTGGGACCTGTCC TCCCCATTTCTCCAGGGTGTCCCCAGAGGAGAGAACCTGCCCTCCCCATT TCTGCAGGGTGTCCCCAGAGGACATGGCCAGCCCTCCCCATTTCTGCAGG GGTCCCAGAGGTTGGGGCAGCCCTCCCCATTTCTGCAGGTGTCCCCAGAG GACAGGGCAGCTCTCCCAATTTCTGCAGTGTGTCCCCAGAGGACAGGCCA GCCCTCCCCATCTCTGCAGGGTATCCCCAGAGGTCGGGGCAGCCCTCCTT ATTTCTGCAGAGTGTCCCCAGAGGACAGGGCTGCCCTCCCCATTTCTGCA GAGTGTCCCCAGAGGTCGGGGCAGCTCTCCCAATTTCTGCAGTGTGTCCC CAGAGGACAGGCCAGCCCTCCCCATCTCTGCAGGGTATCCCCAGAGGTCG GGGCAGCCCTCCTCATTTCTGCAGC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0220 a0001c0003t0001g0220	1	233	0.0043	574	c.170 others(591): Show c.1707+650_1707+651insGCTGCAGAAATGAGGAGGGCTGCCCCGA CCTCTGGGGATACCCTGCAGAGATGGGGAGGGCTGGCCTGTCCTCTGGGG ACACACTGCAGAAATTGGGAGAGCTGCCCCGACCTCTGGGGACACTCTGC AGAAATGGGGAGGGCAGCCCTGTCCTCTGGGGACACTCTGCAGAAATAAG GAGGGCTGCCCCGACCTCTGGGGATACCCTGCAGAGATGGGGAGGGCTGG CCTGTCCTCTGGGGACACACTGCAGAAATTGGGAGAGCTGCCCTGTCCTC TGGGGACACCTGCAGAAATGGGGAGGGCTGCCCCAACCTCTGGGACCCCT GCAGAAATGGGGAGGGCTGGCCATGTCCTCTGGGGACACCCTGCAGAAAT GGGGAGGGCAGGTTCTCTCCTCTGGGGACACCCTGGAGAAATGGGGAGGA CAGGTCCCAACCTCTGCAGACACCCTGCAGAGATGGGGAGAGCTTCCTTG TTCTCTAAGGACACCCTGCAGAAATGGGGAGGGCTGCCCCGACCTCTAGG GACACTCTGCAGAAATGGGGAGGGCAGCCCTGTCCTCTGGGGACAC	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	12/20			chr4	TogoVar
KDM4B_chr19_4964113_5158598	5131563	A A	AGGCAGGG others(567): Show AGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAG GTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGG CAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCT GGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGG GGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGC AGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGG GGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGGCAGG TGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTG GCGGGGGAGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAG GAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGG AGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCA CAGGGGAGCTGGTGGCGGGGGAGGG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0051 a0004c0004t0005g0051	1	270	0.0037	574	c.178 others(591): Show c.1785+115_1785+116insGGCAGGTGGGGTGGGGCAGGGGAGGAGG GGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGA GGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGG GGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGG GGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA GGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGC AGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGG GGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAG CTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCA GGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGG GCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGT GGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KIF25_chr6_167992671_168050091	167997184	G G	GGGGCGAC others(567): Show GGGGCGACGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGAT GGGGGTCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGA TGGGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAG ATGGGGGGTGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAG ATGGGGGTCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGA GATGGGGGTCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATGTGCAGA GGTGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGGAATCTGCAGAG ATAGGGTCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGAT GGGGGTCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATG GGGGCCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGG GGGCCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0023 a0001c0010t0023	a0001c0010t0023g0353 a0001c0010t0023g0353	1	375	0.0027	574	c.-22 others(585): Show c.-2285_-2284insGGGCGACGGGGGAATCTGCAGAGATGGGGTCGGG GGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGGTCGG GGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGCG GGGGAATCTGCAGAGATGGGGGGTGGGGGAATCTGCAGAGATGGGGGTCG GGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGGTC GGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGTC GGGGGAATGTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGTCGG GGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGTCGGG GGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGTCGGGG GAATCTGCAGAGATGGGGGCCGGGGGAATCTGCAGAGATGGGGTCGGGGG AATCTGCAGAGATGGGGGCCGGGGGAATCTGCAGAGATGGGGGGCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGC	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		486		chr6	TogoVar
KIF25_chr6_167992671_168050091	167997208	G G	GGGGGCGG others(567): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGTCGGGGGACTCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGG GGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGG GGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGG GGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGG GGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGAT GGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATG GGGTCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATG GGGCGACGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0330 a0003c0004t0005g0330	1	375	0.0027	574	c.-22 others(585): Show c.-2261_-2260insGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGTCGGGGGACTCTGCAGAGATGGGGGGCGGGGG AATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGA ATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGA ATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGG AATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGG GGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGGTCGGGG GAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		462		chr6	TogoVar
KIF25_chr6_167992671_168050091	167997264	G G	GCGGGGGA others(567): Show GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGG TCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGG ACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGG GAATCTGCAGAGGTGGGGGCCGGGGGAATCTGCAGAGATGGGGCGACGGG GGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACG GGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGCG GGGGAATCTGCAGAGATGGGGGCGACGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGCGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG02129.hp1 HG02293.hp1 others(2): Show HG01993.hp1 HG02129.hp1 HG02293.hp1 HG02293.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0026 a0001c0001t0001 a0001c0003t0026	a0001c0001t0001g0172 a0001c0001t0001g0212 a0001c0001t0001g0227 others(2): Show a0001c0001t0001g0172 a0001c0001t0001g0212 a0001c0001t0001g0227 a0001c0001t0001g0238 a0001c0003t0026g0182	5	375	0.0133	574	c.-22 others(585): Show c.-2205_-2204insCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAAT CTGCAGAGATGGGGGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGTCGGGGGAATCTGCAGAGGTGGGGGCCGGGGGAATCTGCAG AGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGC AGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTG CAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGACGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGCGA	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		406		chr6	TogoVar
LMF1_chr16_848634_975984	953579	A A	ACACCCAC others(567): Show ACACCCACCCCAAACCAGCCTCCTGCACGTCCACACAGACACGGACCCCA AACCAGCCTCCTGCACGTCCACACAGACACCCACCCCAAACCAGCCTCCT GCACGTCCACACAGACACACACCCCAAACCAGCCTCCTGCACATCCACAC AGACACAGACCCGAAACCAGCTTCCTACATGTCCACACAGACACCCACCC CACACCAGCTTCCTACATGTCCACACAGACACCCACCCCACACCAGCCTC CTACACGTTCACACAGACACGGACCCCAAACCAGCCTCCTGCACATCCAC ACAGACACAGACCCGAAACCAGCCTCCTGCACATCCACACAGACACAGAC CCGAAACCAGCTTCCTACACGTCCACACAGACACCCACCCCACACCAGCT TCCTACATGTCCACACAGACACCCACCCCACACCAGCCTCCTACACGTTC ACACAGACACGGACCCCAAACCAGCCTCCTGCACATCCACACAGACACAG ACCCGAAACCAGCCTCCTGCACATCCACACAGACACAGACCCGAAACCAG CTTCCTACACGTCCACACAGACACC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0120 a0002c0007t0001g0120	1	294	0.0034	574	c.503 others(589): Show c.503+777_503+778insGGTGTCTGTGTGGACGTGTAGGAAGCTGGT TTCGGGTCTGTGTCTGTGTGGATGTGCAGGAGGCTGGTTTCGGGTCTGTG TCTGTGTGGATGTGCAGGAGGCTGGTTTGGGGTCCGTGTCTGTGTGAACG TGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACATGTAGGAAGCTG GTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCGGGTCTG TGTCTGTGTGGATGTGCAGGAGGCTGGTTTCGGGTCTGTGTCTGTGTGGA TGTGCAGGAGGCTGGTTTGGGGTCCGTGTCTGTGTGAACGTGTAGGAGGC TGGTGTGGGGTGGGTGTCTGTGTGGACATGTAGGAAGCTGGTGTGGGGTG GGTGTCTGTGTGGACATGTAGGAAGCTGGTTTCGGGTCTGTGTCTGTGTG GATGTGCAGGAGGCTGGTTTGGGGTGTGTGTCTGTGTGGACGTGCAGGAG GCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGCAGGAGGCTGGTTTGGGG TCCGTGTCTGTGTGGACGTGCAGGAGGCTGGTTTGGGGTGGGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
MACF1_chr1_39199695_39492138	39234647	A A	ACCGCCCC others(567): Show ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCG CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCGC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCC CCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGGC GGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGTG GCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGCG GCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGATGGGGCGG CTGGCCTGGCGGGGGGCTGACCCCC	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19088.hp2 NA19084.hp2 NA19088.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0183 a0002c0003t0002g0184 a0002c0003t0002g0183 a0002c0003t0002g0184	2	246	0.0081	574	c.171 others(591): Show c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCAC CTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCAC CTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACC TCCCTCCTGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCC	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP3K15_chrX_19355059_19520508	19478121	G G	GAGGGGGG others(567): Show GAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGG GGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGG GGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGG AGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGG GGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGGGAGGGGGGAGGGGG GAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGA GGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGG GGGGAGGGGGGAGAGGGGGAGGGGGGAGAGGGGGAGGGGGGAGAGGGGGA GGGGGGAGAGGGGGAGGGGGGAGAGGGGGAGGGGGGAGAGGGGGGAGAGA GGGGGAGAGGGGGGGAGAGAGGGGGAGGGGGAGAGAGGGGGAGGGGGAGA GGGGGAGAGAGGGGGAGGGGGAGAGGGGGAGAGAGGGGGAGAGAGGGGGA GAGAGGGGGGAAGGGGAGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0008 a0002c0002t0011g0008	1	163	0.0061	574	c.525 others(591): Show c.525+8360_525+8361insTCCCCCTCTCCCCTTCCCCCCTCTCTCC CCCTCTCTCCCCCTCTCTCCCCCTCTCCCCCTCCCCCTCTCTCCCCCTCT CCCCCTCCCCCTCTCTCCCCCTCCCCCTCTCTCCCCCCCTCTCCCCCTCT CTCCCCCCTCTCCCCCCTCCCCCTCTCCCCCCTCCCCCTCTCCCCCCTCC CCCTCTCCCCCCTCCCCCTCTCCCCCCTCCCCCTCTCCCCCCTCCCCCCT CCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCC CCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCC CCTCCCCCCTCCCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCC TCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCC CCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCC CTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCT CCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCT	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MLPH_chr2_237482251_237560322	237543588	G G	GGTGAGTG others(567): Show GGTGAGTGGGCACGGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGT GGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGCACGG TGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGAGGGGA CAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGG GACAGTGTGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGAGTGGG GACAGTGGTGAGTGGGGACAGTAATGAGTCGGGGGACAGTGGTGAGTGGG CACAGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGG GGGACAGTGTGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGAGTG GGGACAGTGGTGAGTGGGGACAGTAATGAGTCGGGGGACAGTGGTGAGTG GGCACAGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTG GGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTG GGGACAGTGGTGAGTGGGCACGGTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0280 a0001c0015t0001g0280	1	286	0.0035	574	c.153 others(591): Show c.1539+938_1539+939insCACGGTGGTGAGTGGGGGGACAGTGGTG AGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGT GAGTGGGCACGGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTGGT GAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGT GGTGAGTGGGGGGACAGTGTGTGGGGGGACAGTGGTGAGTTGGGGGGACA GTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTAATGAGTCGGGGGACA GTGGTGAGTGGGCACAGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACA GTGGTGAGTGGGGGGACAGTGTGTGGGGGGACAGTGGTGAGTTGGGGGGA CAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTAATGAGTCGGGGGA CAGTGGTGAGTGGGCACAGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGA CAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGA CAGTGGTGAGTGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MPG_chr16_73225_90846	82247	G G	GCTCCCCA others(567): Show GCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGG AAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAC CTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACC ACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCTT CTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATACTCCCCGCGCTG ACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCC CGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCC TCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGG GAAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCACCC TACCTCCGGGAAGGCCTCCTGAATA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	442	0.0023	574	c.301 others(589): Show c.301-799_301-798insACACTGACCCCTTCTTCCCACCACCCTACC TCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCA CCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTT CCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGGCC CCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCCG GCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAAT ACTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGG AAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAC CTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACC ACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCTT CTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATACTCCCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(567): Show TCTGCTCTCCCCTCCCCTCTTCCCTCCCCTCTCCCCTCCCCCTCCCCCCC CTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCT TCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCG CTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCCTCCCCCTCCT CCCCTCCTCCCCTCCCCCCCTCCTCCCCTCCCCTCTCCCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCTCCCCTCCCCCCTCCTCCCCTCCTCCCCTCC TCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCTTCCCCTCCTCCCC TCCTCCCCTCGTCCCCTCCCCTCCTCCCCTCGTCCCCTCCCCTCCTCCCC TCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCC TCGTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0033 a0002c0004t0001g0033	1	140	0.0071	574	c.114 others(593): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCTTCCCTCCCC TCTCCCCTCCCCCTCCCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCC CTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGTCT CCCCTCCCGTCTCCCCTCCCGCTCTCCCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCCTCCCCCTCCTCCCCTCCTCCCCTCCCCCCCTCCTCCCCT CCCCTCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCC CCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCC TCCCCTCTTCCCCTCCTCCCCTCCTCCCCTCGTCCCCTCCCCTCCTCCCC TCGTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCC TCCCCTCCTCCCCTCCTCCCCTCGTCCCCTCCCCTCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(567): Show GCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCAC ACCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCT CACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTATCCCGGCCCCCGGCT CTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC CGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTACCCCT GCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTA CCCCCGGCCCCCGGGCTCTCACTCC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	394	0.0025	574	c.-8+ others(587): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGGTAGCGGG TGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTA GGGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGT AGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCG GGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGC CGGGGTAGGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCCGGGATAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCG GGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGTGTGAGAG CCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MTTP_chr4_99569824_99628997	99588927	A A	ACATATAT others(567): Show ACATATATATGTTCATATATATACACACATATATATGTTCATATATATAC ACACATATATATGTTCATATATATACACACATATATATGTTCATATATAT ACTCATATATATATGTTCATATATATACTCATATATATATGTTCATATAT ATACTCATATATATGTTCATATATATACTCATATATATGTTCATATATAT ACTCATATATATGTTCATATATATACTCATATATATGTTCATATATATAC TCATATATATGTTCATATATATACTCATATATATGTTCATATATATTCAT ATATATGTTCATATATATATTCATATATATGTTCATATATATATTCATAT ATATGTTCATATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0131 a0005c0005t0001g0131	1	364	0.0028	574	c.394 others(589): Show c.394-707_394-706insGTTCATATATATACACACATATATATGTTC ATATATATACACACATATATATGTTCATATATATACACACATATATATGT TCATATATATACTCATATATATATGTTCATATATATACTCATATATATAT GTTCATATATATACTCATATATATGTTCATATATATACTCATATATATGT TCATATATATACTCATATATATGTTCATATATATACTCATATATATGTTC ATATATATACTCATATATATGTTCATATATATACTCATATATATGTTCAT ATATATTCATATATATGTTCATATATATATTCATATATATGTTCATATAT ATATTCATATATATGTTCATATATATATTCATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99588955	A A	ACATATAT others(567): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATATATATTC ATATATATGTTCATATATATATTCATATATATGTTCATATATATTCATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCAT ATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTC ATATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGT TCATATATATATGTTCATATATATGTTCATATATATATGTTCATATATAT GTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATATAT ATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATAT ATATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCAT ATATATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTC ATATATATGTTCATATATATATGTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	364	0.0028	574	c.394 others(589): Show c.394-666_394-665insTTCATATATATATGTTCATATATATTCATA TATATGTTCATATATATATTCATATATATGTTCATATATATTCATATATA TGTTCATATATATATTCATATATATATGTTCATATATATATTCATATATA TATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATATA TATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATA TATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCA TATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTT CATATATATATGTTCATATATATGTTCATATATATATGTTCATATATATG TTCATATATATATGTTCATATATATGTTCATATATATATGTTCATATATA TGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATATA TATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATA TATATGTTCATATATATATGTTCATATATATGTTCATATATATA	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATGT others(567): Show ATATATGTTCATATATATATTCATATATATGTTCATATATATTCATATAT ATGTTCATATATATTCATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATGTTCATATATATATTCATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATGTTCATATATATGTTCATATATATATGTTCAT ATATATGTTCATATATATATGTTCATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	364	0.0028	574	c.394 others(589): Show c.394-608_394-607insTATATGTTCATATATATATTCATATATATG TTCATATATATTCATATATATGTTCATATATATTCATATATATGTTCATA TATATATTCATATATATATGTTCATATATATATTCATATATATGTTCATA TATATATTCATATATATGTTCATATATATATTCATATATATATGTTCATA TATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCA TATATATATTCATATATATATGTTCATATATATATTCATATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATATGTTCATATATATGTTCATATATATG TTCATATATATATGTTCATATATATGTTCATATATATATGTTCATATATA TGTTCATATATATATTCATATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MUSK_chr9_110663791_110811558	110690669	T T	TATATATA others(567): Show TATATATATTTATATATAAGTATATATATAAATATATATATTTATATATA AGTATATATATAAATATATATATTTATATATAAGTATATATATAAATATA TATATTTATATATAAGTATATATATATATTTATATATAAGTATATATAAT TATATATATTTATATATAAGTATATATATATTTATATATAAGTATATATA TATATTTATATATAAGTATATATATAAATATATATATTTATATATAAGTA TATATATAAATATATATATTTATATATAAGTATATATATATTTATATATA AGTATATATAAATATATATATTTATATATAAGTGTATATATATAAATATA TATATTTATATAGAAGTATATATAAATATATATATTTATATATAAGTATA TATAAATATATATATTTAAATATAAGTATATATAAATATATATATTTAAA TATAAGTATATATATAAATATATATTTAAATATAAGTATATATATAAATA TATATTTAAATATAAGTATATATATAAATATAAGTATATATATAAATATA TATTTAAATATAAGTATATATATAA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0082 a0003c0003t0001g0082	1	326	0.0031	574	c.358 others(591): Show c.358+3412_358+3413insTATATAAGTATATATATAAATATATATA TTTATATATAAGTATATATATAAATATATATATTTATATATAAGTATATA TATAAATATATATATTTATATATAAGTATATATATATATTTATATATAAG TATATATAATTATATATATTTATATATAAGTATATATATATTTATATATA AGTATATATATATATTTATATATAAGTATATATATAAATATATATATTTA TATATAAGTATATATATAAATATATATATTTATATATAAGTATATATATA TTTATATATAAGTATATATAAATATATATATTTATATATAAGTGTATATA TATAAATATATATATTTATATAGAAGTATATATAAATATATATATTTATA TATAAGTATATATAAATATATATATTTAAATATAAGTATATATAAATATA TATATTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTATA TATATAAATATATATTTAAATATAAGTATATATATAAATATAAGTATATA TATAAATATATATTTAAATATAAGTATATATATAAATATATATTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690669	T T	TATATATA others(567): Show TATATATATTTATATATAAGTATATATATAAATATATATATTTATATATA AGTATATATATAAATATATATATTTATATATAAGTATATATATATATTTA TATATAAGTATATATAATTATATATATTTATATATAAGTATATATATATT TATATATAAGTATATATATATATTTATATATAAGTATATATATAAATATA TATATTTATATATAAGTATATATATAAATATATATATTTATATATAAGTA TATATATAAATATATATATTTATATATAAGTATATATATATTTATATATA AGTATATATAAATATATATATTTATATATAAGTGTATATATATAAATATA TATATTTATATAGAAGTATATATAAATATATATATTTATATATAAGTATA TATAAATATATATATTTAAATATAAGTATATATAAATATATATATTTAAA TATAAGTATATATATAAATATATATTTAAATATAAGTATATATATAAATA TATATTTAAATATAAGTATATATATAAATATAAGTATATATATAAATATA TATTTAAATATAAGTATATATATAA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0084 a0003c0003t0002g0084	1	326	0.0031	574	c.358 others(591): Show c.358+3412_358+3413insTATATAAGTATATATATAAATATATATA TTTATATATAAGTATATATATAAATATATATATTTATATATAAGTATATA TATATATTTATATATAAGTATATATAATTATATATATTTATATATAAGTA TATATATATTTATATATAAGTATATATATATATTTATATATAAGTATATA TATAAATATATATATTTATATATAAGTATATATATAAATATATATATTTA TATATAAGTATATATATAAATATATATATTTATATATAAGTATATATATA TTTATATATAAGTATATATAAATATATATATTTATATATAAGTGTATATA TATAAATATATATATTTATATAGAAGTATATATAAATATATATATTTATA TATAAGTATATATAAATATATATATTTAAATATAAGTATATATAAATATA TATATTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTATA TATATAAATATATATTTAAATATAAGTATATATATAAATATAAGTATATA TATAAATATATATTTAAATATAAGTATATATATAAATATATATTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(567): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATAAATATATAAAAATTTATATT TATATATCATAAATATAAATATATAAAAATTTATATTTATATATCATAAA TATATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTATAT ATCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTATATTT ATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATAAAAATTTATATTTATATATCATATATAAAAATTT ATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAA ATTTATATATATCATATATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	350	0.0029	574	c.-28 others(585): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATAT ATAAAAATTTATATTTATATATCATAAATATAAATATATAAAAATTTATA TTTATATATCATAAATATATAAAAATTTATATTTATATATCATAAATAAA AATTTATATTTATATATCATAAATAAAAATTTATATTTATATATCATATA TAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCA TATATAAAAATTTATATTTATATATCATATAAAAATTTATATTTATATAT CATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTAT ATATCATATATAAAAATTTATATATATCATATATAAAAATTTATATTTAT ATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATAT TTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTT ATATTTATATATCATATATAAAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
NME4_chr16_392199_405754	397726	C C	CGGGGGGT others(567): Show CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGG GGGTGGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGG GAGTCGGGGGGTGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGG GTGAGGGAGTCGGGGGGTGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGCGGGTGTGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGGTGAGGGAGTCGGGGGGTGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0254 a0001c0003t0001g0254	1	356	0.0028	574	c.91+ others(587): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGG GTGGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGA GTCGGGGGGTGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGT GAGGGAGTCGGGGGGTGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGCGGGTGTGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGGTGAGGGAGTCGGGGGGTGGGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOTCH1_chr9_136489433_136551048	136535021	C C	CCCCCCAG others(567): Show CCCCCCAGTCCCTCCCCAGAGCCCCTCAGTCCCTCCCCACAGAGCCCCCC AGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCGAGTCCGT CCCCACAGAGCCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCC CAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGA GCCCCCGAGTCCCTCCCCACAGAGCCCGAGTCCGTCCCCACAGAGCCCCC ACTCCCTCCCCACAGAGCCCCCAAGTCCGTCCCCACAGGCCCCCAGTCCC TCCCCACAGAGCCCCCCAGTCCCCCCCCACAGAGCCCCCAGTCCCTCCCC ACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCGAGTCTGTCCCCACAG GCCCCACTGGACACCAGGCTCCAGTCCCTCCCCACAGAGCCCCCAGTCCC TCCCCACAGAGCCCCCCAGTCCCTCCTCACAGAGCCCCCGAGTCCCTCCC CACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAG AGCCCCCAAGTCCGTCCCCACAGAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	324	0.0031	574	c.140 others(591): Show c.140+9002_140+9003insCTCTGTGGGGACGGACTTGGGGGCTCTG TGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGCTCTGTGGGG AGGGACTCGGGGGCTCTGTGAGGAGGGACTGGGGGGCTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGAGGGACTGGAGCCTGGTGTCCAGTGGGGCCTG TGGGGACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGG GAGGGACTGGGGGCTCTGTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGG ACTGGGGGCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGG GGCTCTGTGGGGACGGACTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCT GTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGGGG AGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGGCTCTGTGGGGACG GACTCGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGG GGGCTCTGTGGGGAGGGACTGAGGGGCTCTGGGGAGGGACTGGGGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(567): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATATA GTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGT TTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTT AAACTATATAGTTTATATAGTTTTAAACTATATAGTTTAAACTATATAGT TTTAAACTATATAAACTATATAGTTTTAAACTAGTTTATATATAGTTTTA AACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTATG TAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTTAAAC TATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATAT AGTTTTAAACTATGTAGTTTTAAACTATATAGTTCATGTAGTTTTAAACT ATATAGTTTAAAACTATATAGTTTATGTAGTTTTAAACTAGTTTATATTT TTTTATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03516.hp1 NA20300.hp2 HG02280.hp2 HG03516.hp1 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0078 a0001c0003t0001g0084 a0001c0003t0001g0098 a0001c0003t0001g0078 a0001c0003t0001g0084 a0001c0003t0001g0098	3	244	0.0123	574	c.342 others(593): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAG TTTAAAACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAACTAC ATAAACTATATAGTTTAAAACTACATAAACTATATAGTTTAAACTAGTTT AAAACTATATATAAACTAGTTTAAAACTATATAGTTTATATAGTTTAAAA CTATATAGTTTAAACTATATAGTTTAAAACTATATAAACTATATAGTTTA AACTATATAAACTATATAGTTTTAAACTATATAAACTATATAGTTTTAAA CTATATAAACTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACT ATATATAAACTATATAGTTTAAAACTATATATAAACTATATAGTTTAAAA CTATATATAAACTATATAGTTTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(567): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATATA GTTTTAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGT TTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTT AAACTATATAGTTTATATAGTTTTAAACTATATAGTTTAAACTATATAGT TTTAAACTATATAAACTATATAGTTTTAAACTAGTTTATATATAGTTTTA AACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTATG TAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTTAAAC TATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATAT AGTTTTAAACTATGTAGTTTTAAACTATATAGTTCATGTAGTTTTAAACT ATATAGTTTAAAACTATATAGTTTATGTAGTTTTAAACTAGTTTATATTT TTTTATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02717.hp1 HG02896.hp2 others(3): Show HG01192.hp2 HG02717.hp1 HG02896.hp2 HG02897.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0083 others(3): Show a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087	6	244	0.0246	574	c.342 others(593): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAG TTTAAAACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAACTAC ATAAACTATATAGTTTAAAACTACATAAACTATATAGTTTAAACTAGTTT AAAACTATATATAAACTAGTTTAAAACTATATAGTTTATATAGTTTAAAA CTATATAGTTTAAACTATATAGTTTAAAACTATATAAACTATATAGTTTA AACTATATAAACTATATAGTTTTAAACTATATAAACTATATAGTTTTAAA CTATATAAACTATATAGTTTTAAACTATATAAACTATATAGTTTAAAACT ATATATAAACTATATAGTTTAAAACTATATATAAACTATATAGTTTAAAA CTATATATAAACTATATAGTTTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(567): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTTAAACTATA TAGTTTATAGTTTTAAACTATATAGTTTATATATAGTTTTAAACTATATA GTTTATATATAGTTTTAAACTAGTTTATATAGTTTAAAACTATATAGTTT ATATAGTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTAT ATAGTTTAAAACTATAGTTTATATAGTTTAAAACTATATAGTTTATATAG TTTTAAACTATATAGTTTAAACTATATAGTTTTAAACTATATAAACTATA TAGTTTTAAACTAGTTTATATATAGTTTTAAACTAGTTTAAACTATATAG TTTATGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTT TATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATAT AGTTTTAAACTATGTAGTTTTAAACTATATAGTTCATGTAGTTTTAAACT ATATAGTTTAAAACTATATAGTTTATGTAGTTTTAAACTAGTTTATATTT TTTTATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01074.hp2 HG00741.hp1 HG01074.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0157 a0002c0001t0001g0188 a0002c0001t0001g0157 a0002c0001t0001g0188	2	244	0.0082	574	c.342 others(593): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAA ACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAACTACATAAAC TATATAGTTTAAACTAGTTTAAAACTATATATAAACTAGTTTAAAACTAT ATAGTTTATATAGTTTAAAACTATATAGTTTAAACTATATAGTTTAAAAC TATATAAACTATATAGTTTTAAACTATATAAACTATAGTTTTAAACTATA TAAACTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATA AACTATATAGTTTTAAACTATATAAACTAGTTTAAAACTATATATAAACT ATATAGTTTAAAACTATATATAAACTATATAGTTTAAAACTATAAACTAT ATAGTTTAAAACTATATAGTTTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(567): Show AGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGG GAAGGAGGACGGAGAAGGGGGAGGGAGGAGGATGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGAAGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGAT GGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGATGGGGGAGGGGAGGGG GGAGGGGGAGGGGAGGGGGAGGGGGGAGGGAGAGGGGAGGGGGAGGGGAT GGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGAGAGGGGGAGGGGGAGGGG AGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGAAGGGAGGGGAA GGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGGAGGGG AAAGGAGGAGGAAGGGGGAGGGGGAAGGGGAGGGAGGGGAGGAGGGGGAA GGGAGGGGAGGAGGGGGAAGGGAGGGGAGGGGAGGAGGGGGGAGGGAGAG GGGAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03139.hp2 HG02280.hp1 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0033 a0001c0003t0062 a0001c0003t0033 a0001c0003t0062	a0001c0003t0033g0257 a0001c0003t0062g0230 a0001c0003t0033g0257 a0001c0003t0062g0230	2	344	0.0058	574	c.154 others(591): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTC CCCTCCCTTCCCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCC CTCCCCCTCCCCCTCTCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCCATC CCCTCCCCCTCCCCTCTCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCC CTCCCCTCCCCCATCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCATC CCCTCCCTTCTCCCTCCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCATCCTCCTCCCTCCCCCTTCTCCGTCCTCCTTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCTCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NTM_chr11_131365615_132341822	131680400	C C	CGTCTGTG others(567): Show CGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGAGATCATGCCTG TGTCTGTGTCTGTGAGTGCCTGTGTGTGTGTCTGTGTAGGCATGCATGCC TCTGTGTCTGTGTGTGAGATCATGCCCGTGTCTGTGTCTGTGAGTGCCTC TGTGTGTGTGTGTGGGTCTGTGTAGGCATGTGTGCCTCTGTATCTGTGTG TGAGATCATGGCTGTGTCTGTGTCTGTGAGTGCCTGTGTGTGTGTGCGCT TCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGAGATCGTGTCTGTG TCTGTGAGTGCCTGTGTGTGTGTGTGCGTCTGTGTAGGCATGTGTGCCTC TGTGTCTGTGTGTGAGATCGTGTCTGTGTCTGTGAGTGCCTGTGTGTGTG TGTGCGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGAGATCATG CCTGTGTCTGTTTCTGTGAGTGCCTGTGTGTGTGTGTGTGTGTGTCTGTG TAGGCATGTGTGCCTCTGTGTCTGTGTGTGAGATCATGCCTGTGTCTGTG TCTGTGAGTGCCTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0041 a0001c0002t0003g0041	1	86	0.0116	574	c.83- others(593): Show c.83-231120_83-231119insGCCTGTGTCTGTGTCTGTGAGTGCCT GTGTGTGTGTCTGTGTAGGCATGCATGCCTCTGTGTCTGTGTGTGAGATC ATGCCCGTGTCTGTGTCTGTGAGTGCCTCTGTGTGTGTGTGTGGGTCTGT GTAGGCATGTGTGCCTCTGTATCTGTGTGTGAGATCATGGCTGTGTCTGT GTCTGTGAGTGCCTGTGTGTGTGTGCGCTTCTGTGTAGGCATGTGTGCCT CTGTGTCTGTGTGTGAGATCGTGTCTGTGTCTGTGAGTGCCTGTGTGTGT GTGTGCGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGAGATCGT GTCTGTGTCTGTGAGTGCCTGTGTGTGTGTGTGCGTCTGTGTAGGCATGT GTGCCTCTGTGTCTGTGTGTGAGATCATGCCTGTGTCTGTTTCTGTGAGT GCCTGTGTGTGTGTGTGTGTGTGTCTGTGTAGGCATGTGTGCCTCTGTGT CTGTGTGTGAGATCATGCCTGTGTCTGTGTCTGTGAGTGCCTGTGTGTGT GTGTGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGAGATCAT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NWD2_chr4_37239743_37454463	37330953	G G	GTACAATA others(567): Show GTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATAC CACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAAT CATCACCCTACTTGAGTATTTCTATACAATACCACCAGAATCATCACCCT ACTTGAGTATTTCTATACAATACCACCAGAATCATCACCCTACTTGAGTA TTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTAC AATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACC AGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATC ACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTT GAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTC TGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTATACAATA CCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAA TCATCACCCTACTTGAGTATTTCTA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0058 a0001c0009t0002g0058	1	296	0.0034	574	c.240 others(591): Show c.240+4969_240+4970insGTACAATACCACCAGAATCATCACCCTA CTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTAT TTCTATACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTATACA ATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCA GAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCA CCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTG AGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCT GTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATAC CACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAAT CATCACCCTACTTGAGTATTTCTATACAATACCACCAGAATCATCACCCT ACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTA TTTCTATACAATACCACCAGAATCATCACCCTACTTGAGTATTTCT	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NXN_chr17_794310_984776	952769	A A	AGAGACCA others(567): Show AGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGG GGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACG GTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGC AGGTACCACGGACGGTCACACTGTGGGGGGGGGCTGGGGTCAGAGAGACC AAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCT GGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCAC ACTGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTA CCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTG GAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAG AGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGG GGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGAC GGTCACACTGTGGGGGGGCTGGAGT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	242	0.0041	574	c.360 others(593): Show c.360+26549_360+26550insACTCCAGCCCCCCCACAGTGTGACCG TCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCC CCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTC TGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCC AACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGT ACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTG TGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCA GCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTG GTCTCTCTGACCCCAGCCCCCCCCCACAGTGTGACCGTCCGTGGTACCTG CCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACC GTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCC CCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(567): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATAGTATGTATACTCTATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATACTATAGAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 NA18988.hp1 NA19006.hp1 HG03834.hp1 NA18988.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0205 a0001c0001t0001g0020 a0001c0001t0001g0205	3	439	0.0068	574	c.-16 others(585): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATAGGATATATATAATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATAGTATGTATACTCTATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATACTATAGAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(567): Show GCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCAC ACCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCT CACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTATCCCGGCCCCCGGCT CTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC CGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTACCCCT GCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTA CCCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	376	0.0027	574	c.15 others(585): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGGTAGCGGGTG AGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGG GGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAG CGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCG GGGTAGGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CCGGGATAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGTGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
POU6F2_chr7_38972909_39473601	39040063	T T	TTATATAT others(567): Show TTATATATATATATATGTATATAATATATATATGTATTATGTGTGTGTGT GTATATATATGTGTGTATATATATATGTATATATATATACATATATATAC ATATATATATACACACATATATATACACACATATATATACACACATATAT ATACACACACACACACATAATATATATGTATTATATATATGTATATAATA TATATATATATATTATCAGCAGCTGTATTGACAAGATTTTCATTACTTCC TAAATGTCTGCACTGGCTTGCTTTATTTTTCCTTTTAAAGTTTATATATA TATAAATGTATATAATATATATACATATATATAATACATATATATGTATA TAATATATATATGTATTATGTGTGTGTGTGTGTATATATATGTGTATATA TATATGTATATATATATACACATATATATACACACATATATATACACACA CACACATAATACATATATATATTATATACATATATATGTATTATATATAT GTATATATATTATATACATATATATGTATTATATATATGTATATATATTA TATACATATATATGTATTATATATG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0091 a0001c0002t0001g0091	1	170	0.0059	574	c.106 others(593): Show c.106-45788_106-45787insATATATGTATATAATATATATATGTA TTATGTGTGTGTGTGTATATATATGTGTGTATATATATATGTATATATAT ATACATATATATACATATATATATACACACATATATATACACACATATAT ATACACACATATATATACACACACACACACATAATATATATGTATTATAT ATATGTATATAATATATATATATATATTATCAGCAGCTGTATTGACAAGA TTTTCATTACTTCCTAAATGTCTGCACTGGCTTGCTTTATTTTTCCTTTT AAAGTTTATATATATATAAATGTATATAATATATATACATATATATAATA CATATATATGTATATAATATATATATGTATTATGTGTGTGTGTGTGTATA TATATGTGTATATATATATGTATATATATATACACATATATATACACACA TATATATACACACACACACATAATACATATATATATTATATACATATATA TGTATTATATATATGTATATATATTATATACATATATATGTATTATATAT ATGTATATATATTATATACATATATATGTATTATATATGTATATATAT	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CCCTCCCT others(567): Show CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCT CCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCTCTCT CCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCC CTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCC CTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTC TCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTC CCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCC TCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCACC TCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTC CCTCTCTCCACCTCCCCTCTCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	227	0.0044	574	c.23 others(585): Show c.2397_*2398insCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCC CCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCC ACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCT CCCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCC CTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCT CTCTGTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTC CCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCT CTCTCTGTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACC TCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCC CTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
RNF213_chr17_80255852_80403794	80274587	T T	TGGGGGGT others(567): Show TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGA GTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGG TGTCTGTGGGGGGTGAATGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTG TGGGGGGTGAGTGGGGTGAGTGGGGTGAGTGGGGTGAATGGGGTGAGTGG GGTGAGTGTGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTG GGGGGTGAGCGGGGTGAGTGTGGGGGTGAGTGGGGTGAGTGTGGGGAGTG AGTGGGGTGAGTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGTG AGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGG GTGAGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGG GGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTG GGGTGAGTGTGTGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGA GTGTGGGGGGTGAGTGGGGTGAGTG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0092 a0092	a0092c0117 a0092c0117	a0092c0117t0026 a0092c0117t0026	a0092c0117t0026g0166 a0092c0117t0026g0166	1	292	0.0034	574	c.261 others(591): Show c.261+1222_261+1223insAGTGTGGGGAGTGAGTGGGGTGAGTGTG GGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAAT GGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTG AGTGGGGTGAGTGGGGTGAATGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGGTGAG TGTGGGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGG TGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGGTGTCTGTGGGG GGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTG GGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTGAGTGG GGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGTGGGGTG AGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGG GTGAGTGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	315225	C C	CTCCACCT others(567): Show CTCCACCTCCACTGACCTGTAGTCTCTGTGCTCCACCTCCACTGAATTGT AGTCCCTGTGACCCCACCTCCATTGACCTGTAGTCTCTGTGCTCCACCTC CATTGACCTGTAGTCCCTGTGCCCCACCTCCACTGACCTGTTGTCTCTGT GCTCCACCTCCATTGACCTGTAGTCCCTGTGCCCCACCTCCACTGACCTG TAGTCCCTGTGCCCCACCTCCACTGACCTGTAGTCACTGTGCACCCACCT CCATTGACCTGCAGTCTCTGTGCTCCACCTCCATTGACCTGTAGTCCCTG TGCCCCACCGCCACTGACCTGTTGTCTCTGTGCTACACCTCCACTGACCT GTTGTCTCTGTGCTACACCTCCACTGACCTGTAGTCCCTGTGCCCCACCT CCACTGACCTGTAGTCCCTGTGCTCCACCTCCACTGACCTGTAGTCCCTG TGCTCCACCTCCACTGACCTGCAGTCCCTGTGCCCCCACCTCCATTGACC TGTAATCCCTGTGACTCCACCTCCATTGACCTGTAGTCCCTGTGACTCCA CCTCCACTGACGTGTAGTCCCTGTG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0074 a0001c0001t0035g0074	1	133	0.0075	574	c.351 others(591): Show c.351+4194_351+4195insCACAGGGACTACACGTCAGTGGAGGTGG AGTCACAGGGACTACAGGTCAATGGAGGTGGAGTCACAGGGATTACAGGT CAATGGAGGTGGGGGCACAGGGACTGCAGGTCAGTGGAGGTGGAGCACAG GGACTACAGGTCAGTGGAGGTGGAGCACAGGGACTACAGGTCAGTGGAGG TGGGGCACAGGGACTACAGGTCAGTGGAGGTGTAGCACAGAGACAACAGG TCAGTGGAGGTGTAGCACAGAGACAACAGGTCAGTGGCGGTGGGGCACAG GGACTACAGGTCAATGGAGGTGGAGCACAGAGACTGCAGGTCAATGGAGG TGGGTGCACAGTGACTACAGGTCAGTGGAGGTGGGGCACAGGGACTACAG GTCAGTGGAGGTGGGGCACAGGGACTACAGGTCAATGGAGGTGGAGCACA GAGACAACAGGTCAGTGGAGGTGGGGCACAGGGACTACAGGTCAATGGAG GTGGAGCACAGAGACTACAGGTCAATGGAGGTGGGGTCACAGGGACTACA ATTCAGTGGAGGTGGAGCACAGAGACTACAGGTCAGTGGAGGTGGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SCARB1_chr12_124771856_124868864	124839644	T T	TCCCAACA others(567): Show TCCCAACAGCACACATGGGCCCCGATTTCTCTGCACCCTCACCCCAACAG CACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACAGCACACATGG GCCCCGATTTCTCCGCACCCTCACCCCAACAGCACACATGGGCCCCGATT TCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCAC CCTCACCCCAACAGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCC AACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACAGCACA CATGGGCCCCGATTTCTCCGCATCCTCACCCCAACGGCACACATGGGCCC CGATTTCTCCGCACCCTCACCCCAACAGCACACATGGGCCCCGATTTCTC CGCACCCTCACCCCAACAGCACACATGGGCCCCGATTTCTCCGCATCCTC ACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACG GCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATG GGCCCCGATTTCTCCGCACCCTCAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0233 a0001c0001t0008g0233	1	356	0.0028	574	c.127 others(593): Show c.127-21938_127-21937insGTGAGGGTGCGGAGAAATCGGGGCCC ATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCC GTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTG AGGATGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCGG AGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCGGAGAAATCGG GGCCCATGTGTGCCGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGT GTGCTGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTG GGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGG TGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAA ATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCGGAGAAATCGGGGCC CATGTGTGCTGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGTGTGC TGTTGGGGTGAGGGTGCAGAGAAATCGGGGCCCATGTGTGCTGTTGGG	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124839644	T T	TCCCAACA others(567): Show TCCCAACAGCACACATGGGCCCCGATTTCTCTGCACCCTCACCCCAACAG CACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACAGCACACATGG GCCCCGATTTCTCCGCACCCTCACCCCAACAGCACACATGGGCCCCGATT TCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCAC CCTCACCCCAACAGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCC AACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACA CATGGGCCCCGATTTCTCCGCATCCTCACCCCAACGGCACACATGGGCCC CGATTTCTCCGCACCCTCACCCCAACAGCACACATGGGCCCCGATTTCTC CGCACCCTCACCCCAACAGCACACATGGGCCCCGATTTCTCCGCATCCTC ACCCCAACAGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACG GCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATG GGCCCCGATTTCTCCGCACCCTCAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0232 a0001c0001t0003g0232	1	356	0.0028	574	c.127 others(593): Show c.127-21938_127-21937insGTGAGGGTGCGGAGAAATCGGGGCCC ATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCC GTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTG AGGATGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCGG AGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCGGAGAAATCGG GGCCCATGTGTGCCGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGT GTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTG GGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGG TGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAA ATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCGGAGAAATCGGGGCC CATGTGTGCTGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGTGTGC TGTTGGGGTGAGGGTGCAGAGAAATCGGGGCCCATGTGTGCTGTTGGG	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124839644	T T	TCCCAACA others(567): Show TCCCAACAGCACACATGGGCCCCGATTTCTCTGCACCCTCACCCCAACAG CACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACAGCACACATGG GCCCCGATTTCTCCGCACCCTCACCCCAACAGCACACATGGGCCCCGATT TCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCAC CCTCACCCCAACAGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCC AACGGCACACATGGGCCCCGATTTCTCTGCACCCTCACCCCAACAGCACA CATGGGCCCCGATTTCTCCGCATCCTCACCCCAACGGCACACATGGGCCC CGATTTCTCCGCACCCTCACCCCAACAGCACACATGGGCCCCGATTTCTC CGCACCCTCACCCCAACAGCACACATGGGCCCCGATTTCTCCGCATCCTC ACCCCAACAGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACG GCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATG GGCCCCGATTTCTCCGCACCCTCAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0022 a0001c0001t0006g0022	1	356	0.0028	574	c.127 others(593): Show c.127-21938_127-21937insGTGAGGGTGCGGAGAAATCGGGGCCC ATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCC GTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTG AGGATGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCGG AGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCGGAGAAATCGG GGCCCATGTGTGCCGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGT GTGCTGTTGGGGTGAGGGTGCAGAGAAATCGGGGCCCATGTGTGCCGTTG GGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGG TGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAA ATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCGGAGAAATCGGGGCC CATGTGTGCTGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGTGTGC TGTTGGGGTGAGGGTGCAGAGAAATCGGGGCCCATGTGTGCTGTTGGG	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124839644	T T	TCCCAACA others(567): Show TCCCAACAGCACACATGGGCCCCGATTTCTCTGCACCCTCACCCCAACAG CACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACAGCACACATGG GCCCCGATTTCTCCGCACCCTCACCCCAACAGCACACATGGGCCCCGATT TCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCAC CCTCACCCCAACAGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCC AACGGCACACATGGGCCCCGATTTCTCTGCACCCTCACCCCAACAGCACA CATGGGCCCCGATTTCTCCGCATCCTCACCCCAACGGCACACATGGGCCC CGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTC CGCACCCTCACCCCAACAGCACACATGGGCCCCGATTTCTCCGCATCCTC ACCCCAACAGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACG GCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATG GGCCCCGATTTCTCCGCACCCTCAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0006 a0002c0006t0006	a0002c0006t0006g0010 a0002c0006t0006g0010	1	356	0.0028	574	c.127 others(593): Show c.127-21938_127-21937insGTGAGGGTGCGGAGAAATCGGGGCCC ATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCC GTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTG AGGATGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCGG AGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGG GGCCCATGTGTGCCGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGT GTGCTGTTGGGGTGAGGGTGCAGAGAAATCGGGGCCCATGTGTGCCGTTG GGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGG TGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAA ATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCGGAGAAATCGGGGCC CATGTGTGCTGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGTGTGC TGTTGGGGTGAGGGTGCAGAGAAATCGGGGCCCATGTGTGCTGTTGGG	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(567): Show CACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGC CCCGATTTCTCCGCACCCTCACCCCAACAGCACACATGGGCCCCGATTTC TCCGCACCCTCACCCCAACAGCACACATGGGCCCCGATTTCTCCGCACCC TCACCCCAACAGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAA CAGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACA TGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCG ATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCG CACCCTCACCCCAACAGCACACATGGGCCCCGATTTCTCCGCACCCTCAC CCCAACGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACGGC ACACATGGGCCCCGATTTCTCCGCACACTCACCCCAACGGCACACATGGG CCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTT CTCCGCATCCTCACCCCAACAGCAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	356	0.0028	574	c.127 others(593): Show c.127-22318_127-22317insATGCTGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATGTGTG CCGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGG TGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGC GGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATC GGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCAT GTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGT TGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAG GGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCGGAG AAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCGGAGAAATCGGGG CCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(567): Show CACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGC CCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTC TCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCC TCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAA CGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACA TGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCG ATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCG CACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCAC CCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGC ACACATGGGCCCCGATTTCTCCGCACACTCACCCCAACGGCACACATGGG CCCCGATTTCTCCGCATCCTCACCCCAACGGCACACATGGGCCCCGATTT CTCCGCATCCTCACCCCAACAGCAT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18963.hp2 NA18964.hp1 others(3): Show NA18948.hp2 NA18963.hp2 NA18964.hp1 NA18970.hp2 NA19001.hp1 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0002 a0001c0002t0001 a0001c0003t0002	a0001c0002t0001g0237 a0001c0002t0001g0314 a0001c0003t0002g0129 others(3): Show a0001c0002t0001g0237 a0001c0002t0001g0314 a0001c0003t0002g0129 a0001c0003t0002g0247 a0001c0003t0002g0313 a0001c0003t0002g0315	6	356	0.0169	574	c.127 others(593): Show c.127-22318_127-22317insATGCTGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGGATGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATGTGTG CCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGG TGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGC GGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATC GGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCAT GTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGT TGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAG GGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAG AAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGG CCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(567): Show CACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGC CCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTC TCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCC TCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAA CGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACA TGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCG ATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCG CATCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACACTCAC CCCAACGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACGGC ACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACGGCACACATGGG CCCCGATTTCTCCGCACACTCACCCCAACGGCACACATGGGCCCCGATTT CTCCGCATCCTCACCCCAACGGCAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0203 a0001c0004t0003g0203	1	356	0.0028	574	c.127 others(593): Show c.127-22318_127-22317insATGCCGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGTGTG CCGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGG TGAGTGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGATGC GGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATC GGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCAT GTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGT TGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAG GGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAG AAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGG CCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCIMP_chr17_5203920_5239860	5232378	A A	ATAAACAG others(567): Show ATAAACAGTGCAGTGTAAACAGTGCAGTGTAAACAGTGCAGTATAAACAG TGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTGT AAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTG CAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAA ACAGTGCAGTGTAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCA GTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAAC AGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTGTAAACAGTGCAGT ATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAG TGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGT AAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTATAAACAGTG CAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAA ACAGTGCAGTGTAAACAGTGCAGTG	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	386	0.0026	574	c.21+ others(589): Show c.21+2356_21+2357insCACTGCACTGTTTACACTGCACTGTTTATA CTGCACTGTTTACACTGCACTGTTTATACTGCACTGTTTACACTGCACTG TTTATACTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTACACT GCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTGTT TACACTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGC ACTGTTTACACTGCACTGTTTACACTGCACTGTTTATACTGCACTGTTTA CACTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCAC TGTTTATACTGCACTGTTTACACTGCACTGTTTACACTGCACTGTTTATA CTGCACTGTTTACACTGCACTGTTTATACTGCACTGTTTACACTGCACTG TTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTGTTTACACT GCACTGTTTACACTGCACTGTTTATACTGCACTGTTTACACTGCACTGTT TATACTGCACTGTTTACACTGCACTGTTTACACTGCACTGTTTA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(567): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCC CTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCAT CCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCC TTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03831.hp1 HG03041.hp2 HG03831.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0006 a0005c0008t0003 a0001c0001t0006 a0005c0008t0003	a0001c0001t0006g0128 a0005c0008t0003g0054 a0001c0001t0006g0128 a0005c0008t0003g0054	2	150	0.0133	574	c.77- others(591): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCC CTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCT CCCCATCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCTC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(567): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCC CTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCAT CCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCC TTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03831.hp1 HG03041.hp1 HG03831.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0005 a0005c0008t0004 a0001c0001t0005 a0005c0008t0004	a0001c0001t0005g0126 a0005c0008t0004g0146 a0001c0001t0005g0126 a0005c0008t0004g0146	2	158	0.0127	574	c.22+ others(591): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCC CTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCT CCCCATCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCTC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC38A10_chr17_81239811_81300307	81249456	G G	GAGGAGGG others(567): Show GAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGA GGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGG AGGGAGAAGGAGGGAGGGAGGAGGGAGGGAAGAGGAGGGAGAAAGAGGGA GGGAGGAGGGAGGGAAGAGGAGGGAGGGAGGAGGGAGGGAAGAGGAGGGA GAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGA AGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAGGAGGGAGGGAAGA GGAGGGAGGGAGGAGGGAGGGAAGAGGAGGGAGAAAGAGGGAGGGAAGAG GAGGGAAAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGA GGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGG GAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGA GAAGGAGGGAGGGAGAAGGAAGGAGGGAAGAGGGAGAAGAGAGGAGGGAG AAAGAGGGAGGCGAGAGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0028 a0003c0006t0001g0028	1	214	0.0047	574	c.206 others(593): Show c.2065+2036_2065+2037insTCTCCCTCCTCTCGCCTCCCTCTTTC TCCCTCCTCTCTTCTCCCTCTTCCCTCCTTCCTTCTCCCTCCCTCCTTCT CCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCC CTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCT CCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTTTCCCTCC TCTTCCCTCCCTCTTTCTCCCTCCTCTTCCCTCCCTCCTCCCTCCCTCCT CTTCCCTCCCTCCTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTT CTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCT CCCTCCTCTTCCCTCCCTCCTCCCTCCCTCCTCTTCCCTCCCTCCTCCCT CCCTCTTTCTCCCTCCTCTTCCCTCCCTCCTCCCTCCCTCCTTCTCCCTC CTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCT CTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCT	SLC38A10	ENSG00000157637.13	transcript	ENST00000374759.8	protein_coding	14/15			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATCATA others(567): Show ATATCATATTTTATATTATAATATATAATATATATTATATTTTATAATAT ATAATATATATTATATTTTATAATATATAATATATTATATTTTATAATAT ATAATATATTATATTTTATAATATATAATATATTATATTTTATAATATAT AATATATTATATTTTATAATATATAATATATTATATTTTATAATATATAA TATATTATATATTATAATATATAATATATTATATATTATAATATATAATA TATTATATATTATAATATATAATATATTATATATTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAAAATATTAT ATTTTATAATATATAAAATATATTATATTTTATAATATATAAAATATATT ATATTTTATAATATATAATATATATTATATTTTATAATATATAATATATA TTATATTTTATAATATATAATATATATTATATTTTATAATATATAATATA TATTATATTTTATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	340	0.0029	574	c.17 others(593): Show c.174+9791_*174+9792insATATTATATATTATAAAATATAATAT ATATTATATATTATAAAATATAATATATATTATATATTATAAAATATAAT ATATATTATATATTATAAAATATAATATATATTATATATTATAAAATATA ATATATTTTATATATTATAAAATATAATATATTTTATATATTATAAAATA TAATATTTTATATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATAAAATATAATATATTATATATTATAAAATATAAT ATATTATATATTATAATATATAATATATTATATATTATAATATATAATAT ATTATATATTATAATATATAATATATTATATATTATAATATATAATATAT TATATATTATAAAATATAATATATTATATATTATAAAATATAATATATTA TATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATA TATTATAAAATATAATATATTATATATTATAAAATATAATATATATTATA TATTATAAAATATAATATATATTATATATTATAATATAAAATATGATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMOC2_chr6_168436184_168672992	168653852	A A	ACCCTGCA others(567): Show ACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCAC CTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCC AACCAGATGTTAGGAACTCACCAACCCTGCTCCTGAGCTCCAACCAAATG TTAGGAACTCACCAACCCTGTACCTGAGCTCCAGCCAGATGTTAGGAACT CACCAACCCTCTACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCC TGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGA GCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACC AGATGTTAGGAACTCACCAACCCTGCTCCTGAGCTCCAACCAAATGTTAG GAACTCACCAACCCTCTACCTGAGCTCCAACCAAATGTTAGGAACTCACC AACCCTCTACCTGAGCTCCAACCAAATGTTAGGAACTCACCAACCCTCTA CCTGAGCTCCAACCAAATGTTAGGAACTCACCACCCCTGTACCTGAGCTC CAACCAAATGTTAGGAACTCACCAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0010 a0002c0012t0010	a0002c0012t0010g0076 a0002c0012t0010g0076	1	180	0.0056	574	c.128 others(591): Show c.1285+753_1285+754insTCCTGAGCTCCAACCAAATGTTAGGAAC TCACCAACCCTGTACCTGAGCTCCAGCCAGATGTTAGGAACTCACCAACC CTCTACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTG AGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAAC CAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTA GGAACTCACCAACCCTGCTCCTGAGCTCCAACCAAATGTTAGGAACTCAC CAACCCTCTACCTGAGCTCCAACCAAATGTTAGGAACTCACCAACCCTCT ACCTGAGCTCCAACCAAATGTTAGGAACTCACCAACCCTCTACCTGAGCT CCAACCAAATGTTAGGAACTCACCACCCCTGTACCTGAGCTCCAACCAAA TGTTAGGAACTCACCACCCCTGCACCTGAGCTCCAACCAGATGTTAGGAA CTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAAC CCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar

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Search Results (Total: 10000 hits)