Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DOCK8_chr9_209865_470255	400719	C C	CCACCACC others(659): Show CCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACC TCCACCATCACCACCTCCTTCACCATCACCATCACCATCACCACCACCTC CACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCA CCATCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCC ACCATCACCACCTCCTTCACCATCACCATCACCATCACCACCACCTCCAA CATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCA CCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACC ATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACTATCACCAC CACCTCCACCATCACCACCACCACCTCCACCATCACCACCTCCTTCACCA TCACCATCACCTCCACCTCCACCATCACCACCACCTCCACCACCACCACC ACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCAT CACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCTTCA CCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCATCACC ACCACCACCTCCACCAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0158 a0003c0001t0001g0158	1	256	0.0039	666	c.323 others(685): Show c.3234+1477_3234+1478insTCACCACCACCTCCACCATCACCACC ACCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCATCACCAC CACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCA CCACCACCATCACCTCCACCATCACCACCACCTCCACCATCACCACCACC ACCTCCACCATCACCACCTCCTTCACCATCACCATCACCATCACCACCAC CTCCAACATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCA CCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACC TCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACTAT CACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCTCCT TCACCATCACCATCACCTCCACCTCCACCATCACCACCACCTCCACCACC ACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTC CACCATCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCT CCTTCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACC ATCACCACCACCACCTCCACCATCACCACCACCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DUSP8_chr11_1549051_1577271	1551549	T T	TCATCCAT others(659): Show TCATCCATCCATCCACCCACCCACCCCACTCATCCCTCTACCCATTCATC CATCTGCCCATCCATCCATCCATCCACCCACCCACCCCACTCATCCCTCT ACCCATTCATCCATCTGCCCATCCATCCATCCATCCACCCACCCATCCAC CCCACTCATCCCTCTACCCATTCATCCATCTGCCCATCCATCCATCCATC CACCCACCCCATTCATCCCTCTACCCATTCATCCATCTGCCCATCCATCC ATCCGTCCACCCACCCGCCCACCCCACTCATCCCTCTACCCATTCATTCA TCTGCCCATCCATCCATCCATCCACCCACCCACCCCACTCATCCCTCTAC CCATTCATCCATCTGCCCATCCATCCATCCACCCACCCCACTCATCCCTC TACCCATTCATCCATCTGCCCATCCATCCATCCGTCCACCCACCCGCCCA CCCCACTCATCCCTCTACCCATTCATTCATCTGCCCATCCATCCATCCAT CCACCCACCCACCCCACTCATCCCTATACCCATTCATCCATCTGCCCATT CATCCATCCACCCACCCACCCATCCACCCCACTCATCCCTCTACCCATTC ATCATCTGCCTATCCATCCATCCAACCACCCACCCCACTCATCCCTCTAC CCATTCATCCATCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG02647.hp1 others(2): Show HG00639.hp1 HG00642.hp2 HG02647.hp1 HG02895.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0014 a0001c0002t0003g0058 a0001c0002t0003g0014 a0001c0002t0003g0058	5	367	0.0136	666	c.49 others(677): Show c.4968_*4969insGGCAGATGGATGAATGGGTAGAGGGATGAGTGGG GTGGGTGGTTGGATGGATGGATAGGCAGATGATGAATGGGTAGAGGGATG AGTGGGGTGGATGGGTGGGTGGGTGGATGGATGAATGGGCAGATGGATGA ATGGGTATAGGGATGAGTGGGGTGGGTGGGTGGATGGATGGATGGATGGG CAGATGAATGAATGGGTAGAGGGATGAGTGGGGTGGGCGGGTGGGTGGAC GGATGGATGGATGGGCAGATGGATGAATGGGTAGAGGGATGAGTGGGGTG GGTGGATGGATGGATGGGCAGATGGATGAATGGGTAGAGGGATGAGTGGG GTGGGTGGGTGGATGGATGGATGGATGGGCAGATGAATGAATGGGTAGAG GGATGAGTGGGGTGGGCGGGTGGGTGGACGGATGGATGGATGGGCAGATG GATGAATGGGTAGAGGGATGAATGGGGTGGGTGGATGGATGGATGGATGG GCAGATGGATGAATGGGTAGAGGGATGAGTGGGGTGGATGGGTGGGTGGA TGGATGGATGGATGGGCAGATGGATGAATGGGTAGAGGGATGAGTGGGGT GGGTGGGTGGATGGATGGATGGATGGGCAGATGGATGAATGGGTAGAGGG ATGAGTGGGGTGGGTGGGTGGATGGATGGATG	DUSP8	ENSG00000184545.11	transcript	ENST00000397374.8	protein_coding		2501		chr11	TogoVar
EBF2_chr8_25836725_26050413	26005383	T T	TAATTATA others(659): Show TAATTATATATTATATATAATTATATATTATATATAATATATAATTATAT ATTATATATAATATATAATTATATATAATATATAATATATTATATATTAT ATATATTATATAAAATATAATATATTATATATAATATATTATATATTATA TATAATATATAATTATATGTTATATATTATATATATTATATATTATATAT ATATTATATATATAATATATATTATATATTAAATTATATATAATATATAT TATATATATAATTTATATATATAAAATATATATATATTATATAAATATAT ATATTTTATATATATAAAATATATATTTTATAATATATAATATAGAAATG TATATTATATAATATATAATTATATATAATTATATATTATATAATATATA TTTCTATATTATATATTTATAATGTATAATATATAAATATATTATAAATA TATATTATATACTATATAATGCATTATAAATATATTATATTTATATATTA TAAATATATTACATATTTATATATTATATATATAATATATATATTATATA TTATAAATATATTTTATAAAATATAATATATATATTATATATTATATATT ATAAATATATTTTATAAAATATAATATATATATTATATATTATATTTTAT AAAATATAATAATAATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0078 a0001c0002t0001g0078	1	220	0.0046	666	c.551 others(685): Show c.551+27701_551+27702insTATTATTATTATATTTTATAAAATAT AATATATAATATATATATTATATTTTATAAAATATATTTATAATATATAA TATATAATATATATATTATATTTTATAAAATATATTTATAATATATAATA TATATATTATATATATAATATATAAATATGTAATATATTTATAATATATA AATATAATATATTTATAATGCATTATATAGTATATAATATATATTTATAA TATATTTATATATTATACATTATAAATATATAATATAGAAATATATATTA TATAATATATAATTATATATAATTATATATTATATAATATACATTTCTAT ATTATATATTATAAAATATATATTTTATATATATAAAATATATATATTTA TATAATATATATATATTTTATATATATAAATTATATATATAATATATATT ATATATAATTTAATATATAATATATATTATATATATAATATATATATAAT ATATAATATATATAATATATAACATATAATTATATATTATATATAATATA TAATATATTATATATAATATATTATATTTTATATAATATATATAATATAT AATATATTATATATTATATATAATTATATATTATATATAATATATAATTA TATATTATATATAATATATAATTATATATAATATATAATT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EXD3_chr9_137301896_137428162	137328244	C C	CATGATGA others(659): Show CATGATGAGTAAAACAACTAATATACTCCCATATGATGAGTAAAACAACT AATATACTCCCATAAGATGAGTAAAAACAACAAATATACACCAACATGAT GAGTAAAAAAAACGAATATACACCCACATGATGAGTGAAAACAAAAAATA TACACCCCCATGATGAGTAAAAACAACTAATATACACCCATATGATGAGT AAAAACAATGAATATACAGACACATGGTGAGTAAAACAACTAATATACAC CCATATGATGAGTAAAAACAACTAATAAACACCCACATGATGAGTAAAAA CAACGAATAAACAACCACATGATGAGTAAAAACAACTAATAAACACCCAT ATGATGAGTAAAAACAACGAATAAACACCCATATGATGAGTAAAACAACT AATATACTCCCATATGATGAGTAAAAACATCGAATAAACACCCATATGAT GAGTAAAACAACTAATATACTCCCATATGATGAGTAAAACAATTAATATA CTCCCATATGATGAGTAAAAACAACAAATATACACCCACATGATGAGTAA AAACAACTAATATACACCTACATGATGAGTAAAAACAATGAACAAACACC CACATGATGAGTAAAAACAACTAATATAAACCCACATCATGAGTAAAAAC AACTAATATACTCCCAT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	82	0.0122	666	c.199 others(685): Show c.1999-4102_1999-4101insATGGGAGTATATTAGTTGTTTTTACT CATGATGTGGGTTTATATTAGTTGTTTTTACTCATCATGTGGGTGTTTGT TCATTGTTTTTACTCATCATGTAGGTGTATATTAGTTGTTTTTACTCATC ATGTGGGTGTATATTTGTTGTTTTTACTCATCATATGGGAGTATATTAAT TGTTTTACTCATCATATGGGAGTATATTAGTTGTTTTACTCATCATATGG GTGTTTATTCGATGTTTTTACTCATCATATGGGAGTATATTAGTTGTTTT ACTCATCATATGGGTGTTTATTCGTTGTTTTTACTCATCATATGGGTGTT TATTAGTTGTTTTTACTCATCATGTGGTTGTTTATTCGTTGTTTTTACTC ATCATGTGGGTGTTTATTAGTTGTTTTTACTCATCATATGGGTGTATATT AGTTGTTTTACTCACCATGTGTCTGTATATTCATTGTTTTTACTCATCAT ATGGGTGTATATTAGTTGTTTTTACTCATCATGGGGGTGTATATTTTTTG TTTTCACTCATCATGTGGGTGTATATTCGTTTTTTTTACTCATCATGTTG GTGTATATTTGTTGTTTTTACTCATCTTATGGGAGTATATTAGTTGTTTT ACTCATCATATGGGAGTATATTAGTTGTTTTACTCATCAT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
F13A1_chr6_6139084_6325662	6261580	G G	GCCCTCCA others(659): Show GCCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGA TTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTC CAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGAC CCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATT CTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCA AGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCC TCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCT GATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAG CGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTC CAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGA TGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCG TGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCA GGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATG TGCTCCAAGCGTGGTGA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0002 a0008c0010t0002	a0008c0010t0002g0086 a0008c0010t0002g0086	1	292	0.0034	666	c.571 others(683): Show c.571+4977_571+4978insTCACCACGCTTGGAGCACATCAGAATCA CCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAC CACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCA CATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACC TGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCA CGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACA TCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTG GAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACG CTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATC AGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGA GGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCT TGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAG AATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGG GTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGG	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
FCMR_chr1_206898317_206926941	206924611	T T	TGAGTGTG others(659): Show TGAGTGTGTGAGTGTGTGGTGTGTAGTTATGAGTGTGTGTGTTCTCTGTC TAGTGTGTGTGTGGTTATGTGTGTGTGATTGTGTGTGTGGTGTGTGTCCA TGAGTGTGTGTGTGCTCTGTAGAGTGTGTAAGTGTGTGGCGTGTGGCTAT GAGTGTGTGTGCACTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTGTG TGTGTGCTCTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTGTGTGTGT GTGCTCTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTGTGTGTGCTCT GTCTAGTGTGTGTGTGGTGTGTGGTTATGTGTGTGTGATTGTGTGTGTGA TGTGTGTCCATGAGTGTGTGTGTGCTCCGTGGAGTGTGTGAATGTGTGGT GTGTGGCTATGAGTGTGTGTGAATGTGTGGTGTGTGGCTATGAGTGTGTG TGAATGTGTGGTGTGTGGCTATGTGTGTGTGCTATGTGTTGTGTGTGGTA TGTAGTTATGAGTGTGTGTCACTGCGTGGTGTGTGGCTATGAGTGTGTGT GTGCTCTGTGGAGTGTGTGTGTGGTGTGTGGCTACGAGTGTGTGTGTGCT CTGTCTAGTATGTGTGGTGTGTGGTTATGTGTGTGGTGTGCATCCATGAG TGTGTGTATGCTCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG02257.hp1 HG02970.hp2 HG01496.hp2 HG02257.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0155 a0001c0001t0008g0156 a0001c0001t0008g0157 a0001c0001t0008g0155 a0001c0001t0008g0156 a0001c0001t0008g0157	3	380	0.0079	666	c.-27 others(677): Show c.-2758_-2757insCACAGAGCATACACACACTCATGGATGCACACCA CACACATAACCACACACCACACATACTAGACAGAGCACACACACACTCGT AGCCACACACCACACACACACTCCACAGAGCACACACACACTCATAGCCA CACACCACGCAGTGACACACACTCATAACTACATACCACACACAACACAT AGCACACACACATAGCCACACACCACACATTCACACACACTCATAGCCAC ACACCACACATTCACACACACTCATAGCCACACACCACACATTCACACAC TCCACGGAGCACACACACACTCATGGACACACATCACACACACAATCACA CACACATAACCACACACCACACACACACTAGACAGAGCACACACACTCAT AGCCACACACCACACACACACTCCACAGAGCACACACACACACTCATAGC CACACACCACACACACACTCCACAGAGCACACACACACTCATAGCCACAC ACCACACACACACTCCACAGTGCACACACACTCATAGCCACACGCCACAC ACTTACACACTCTACAGAGCACACACACACTCATGGACACACACCACACA CACAATCACACACACATAACCACACACACACTAGACAGAGAACACACACA CTCATAACTACACACCACACACTCACACACTC	FCMR	ENSG00000162894.12	transcript	ENST00000367091.8	protein_coding		2671		chr1	TogoVar
FGFR2_chr10_121473332_121603444	121584657	A A	ACACCCCA others(659): Show ACACCCCACCCCAACCGATCCCATAACCCCTCTCCATCCCGCACCCCACC CCAACCGATCCCATAACCCCTCTCCATCCCGCACCCCACCCCAACCAATC CCATAACCCCTCTCCATCCCACACCCCACCCCAACTGATCCCATAACCCC TCTCCATCCCGCACCCCACCCCAAACGATCCCATAACCCTCTCCATCCCG CACCACCCCAACCGATCCCATAACCCCTCTCCATCCCGCACCCCACCCCA ACCGATCCCATAACCCCTCTCCATCCCGCACCACCCCAACCGATCCCATA ACCCCTCTACATCCTGCACCCCACCCCAAACGATCCCATAACCCTCTCCA TCCCGCACCACCCCAACCGATCCCATAACCCCTCTCCATCCCGCACCACC CCAACCGATCCCATGACCCTCTCCATCCCACACCCCACCCCAACCGATCC CATAACCCTCTCCATCCCGCACCCCACCCCAACCGATCCCATAACCCCTC TCCATCCCGCACCCCACCCCAAACGATCCCATAACCCCTCTCCATCCCGC ACCACCCCAACCGATCCCATAACCCCTCTCCATCCCGCACCCCACCCCAA CCGATCCCATAACCCCTCTCCATCCCACACCCCACCCCAACCGATCCCAT AACCCCTCTCCATCCCG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0024 a0001c0012t0024	a0001c0012t0024g0236 a0001c0012t0024g0236	1	240	0.0042	666	c.109 others(683): Show c.109+9051_109+9052insCGGGATGGAGAGGGGTTATGGGATCGGT TGGGGTGGGGTGTGGGATGGAGAGGGGTTATGGGATCGGTTGGGGTGGGG TGCGGGATGGAGAGGGGTTATGGGATCGGTTGGGGTGGTGCGGGATGGAG AGGGGTTATGGGATCGTTTGGGGTGGGGTGCGGGATGGAGAGGGGTTATG GGATCGGTTGGGGTGGGGTGCGGGATGGAGAGGGTTATGGGATCGGTTGG GGTGGGGTGTGGGATGGAGAGGGTCATGGGATCGGTTGGGGTGGTGCGGG ATGGAGAGGGGTTATGGGATCGGTTGGGGTGGTGCGGGATGGAGAGGGTT ATGGGATCGTTTGGGGTGGGGTGCAGGATGTAGAGGGGTTATGGGATCGG TTGGGGTGGTGCGGGATGGAGAGGGGTTATGGGATCGGTTGGGGTGGGGT GCGGGATGGAGAGGGGTTATGGGATCGGTTGGGGTGGTGCGGGATGGAGA GGGTTATGGGATCGTTTGGGGTGGGGTGCGGGATGGAGAGGGGTTATGGG ATCAGTTGGGGTGGGGTGTGGGATGGAGAGGGGTTATGGGATTGGTTGGG GTGGGGTGCGGGATGGAGAGGGGTTATGGGATCGGTTGGGGTGGGGTGCG GGATGGAGAGGGGTTATGGGATCGGTTGGGGTGGGGTG	FGFR2	ENSG00000066468.24	transcript	ENST00000358487.10	protein_coding	2/17			chr10	TogoVar
FHIT_chr3_59742277_61256452	60861213	T T	TATATATC others(659): Show TATATATCATATATATCATATATGATATATATCATATATATCATATATGA TATATATCATATATATCATATATGATATATATCATATATATCATATATGA TATATATCATATATATCATATATGATATATATCATATCATATATGATATA TATCATATCATATATGATATATATCATATCATATATGATATATATGATAT ATATCATATCATATATGATATATATGATATATATCATATATATCATATAT ATCATATATGATATATATGATATATATGATATATCATATATATCATATAT GATATATATGATATATATGATATATCATATCATATCATATATGATATATA TGATATATATGATATATCATATCATATCATATATGATATATATGATATAT ATGATATATCATATCATATCATATATGATATATATGATATATATGATATA TCATATCATATCATATATGATATATATGATATATATGATATATCATATCA TATCATATATGATATATATGATATATATGATATATCATATCATATCATAT ATGATATATATGATATATATGATATATCATATCATATCATATATGATACA TATGATATATATGATATATCATATCATATCATATATGATATATATGATAT ATATGATATATCATATC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	46	0.0217	666	c.-11 others(687): Show c.-110-39203_-110-39202insGATATGATATATCATATATATCAT ATATATCATATATGATATGATATGATATATCATATATATCATATGTATCA TATATGATATGATATGATATATCATATATATCATATATATCATATATGAT ATGATATGATATATCATATATATCATATATATCATATATGATATGATATG ATATATCATATATATCATATATATCATATATGATATGATATGATATATCA TATATATCATATATATCATATATGATATGATATGATATATCATATATATC ATATATATCATATATGATATGATATGATATATCATATATATCATATATAT CATATATGATATGATATGATATATCATATATATCATATATATCATATATG ATATATATGATATATCATATATATCATATATATCATATATGATATATATG ATATATATGATATATATCATATATATCATATATGATATGATATATATCAT ATATATCATATATGATATGATATATATCATATATGATATGATATATATCA TATATGATATGATATATATCATATATGATATATATGATATATATCATATA TGATATATATGATATATATCATATATGATATATATGATATATATCATATA TGATATATATGATATATATCATATATGATATATATGATATAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
GAL3ST2_chr2_241771822_241809287	241805669	A A	ACCCTCCC others(659): Show ACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCA GGGACCTCTGCAGGCCACCCTCCCTCCCTCCTCAACCCAGGGACCTCCGC AGGCCACCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA ACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCCTCAACCCAGGGAC CTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGGATGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCGCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAT GTCTGCAGGCCACCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0094 a0002c0002t0001g0094	1	314	0.0032	666	c.15 others(677): Show c.1503_*1504insCCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCC CTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCTCAA CCCAGGGACCTCCGCAGGCCACCCTCCCTCCTCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC CCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGG GACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCGCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGATGTCTGCAGGCCACCCTC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1383		chr2	TogoVar
GPR173_chrX_53043789_53085615	53073895	T T	TATTTATA others(659): Show TATTTATATATATATAAATATATATATTTATATTTATTTATATATATAAA TATATATATTTATATTTATTTATATATATAAATATATATATTTATATTTA TATATATATATAAATATATATATTTATATATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA AATATATATTATATTTATATTTATATATTTATATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTAATATATATTT ATATATATAAATATATATATTTATATATAAATATATATATTTAAGTATAT TTATATATAAATATATATATTTATATATATATTTATATATAAATATATAT ATTTATATATAAATATATATATAAAATATATATATTTATATATAAATTAT ATATATTTATATATATATTTATATATAAATATATATATTTATATATAAAT ATATATATTTATATATATAAATATATATATTTATATATATAAATATATAT ATATTTATATTTACAAATATATATATTTATATATATATTTATATTTATAT ATATTTATATTTATATATATATATATAAATATATATTTATGTATATTTAT ATATAAATATAAATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0083 a0001c0001t0010g0083	1	208	0.0048	666	c.-97 others(683): Show c.-97-2630_-97-2629insATTTATATATATATAAATATATATATTT ATATTTATTTATATATATAAATATATATATTTATATTTATTTATATATAT AAATATATATATTTATATTTATATATATATATAAATATATATATTTATAT ATATATATAAATATATATATTTATATTTATTTATATATATAAATATATAT ATTTATATTTATATATATATAAATATATATTATATTTATATTTATATATT TATATTTATATATATAAATATATATATTTATATTTATTTATATATATAAA TATATATATTAATATATATTTATATATATAAATATATATATTTATATATA AATATATATATTTAAGTATATTTATATATAAATATATATATTTATATATA TATTTATATATAAATATATATATTTATATATAAATATATATATAAAATAT ATATATTTATATATAAATTATATATATTTATATATATATTTATATATAAA TATATATATTTATATATAAATATATATATTTATATATATAAATATATATA TTTATATATATAAATATATATATATTTATATTTACAAATATATATATTTA TATATATATTTATATTTATATATATTTATATTTATATATATATATATAAA TATATATTTATGTATATTTATATATAAATATAAATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1			chrX	TogoVar
GPR173_chrX_53043789_53085615	53074115	T T	TATATATA others(659): Show TATATATAAATATATAAATATACATTTATATATAAATATATAAATATACA TTTATATATAAATATATAAATATACATTTATATATAAATATATATAAATA TACATTTATATATAAATATATATAAATATACATTTATATATAAATATATA TAAATATACATTTATATATAAATATATATAAATATACATTTATATATAAA TATATATAAATATACATTTATATATAAATATATATAAATATACATTTATA TATAAATATATATAAATATACATGTATATTTATTCATATATAAATATATA TAAATATACATGTATATTTATTCATATATAAATATATATAAATATACATG TATATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCA TATATAAATATATATAAATATACATGTATATTTATTCATATATAAATATA TATAAATATACATGTATATTTATTCATATATAAATATATATAAATATACA TGTATATTTATTCATATATAAATATATATAAATATACATGTATATTTATT CACATATAAATATATATAAATATACATGTATATTTATTCACATATAAATA TATATAAATATACATGTATATTTATTCACATATAAATATATATAAATATA CATGTATATTTATTCAC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0055 a0001c0003t0063 a0001c0003t0055 a0001c0003t0063	a0001c0003t0055g0001 a0001c0003t0063g0001 a0001c0003t0055g0001 a0001c0003t0063g0001	2	208	0.0096	666	c.-97 others(683): Show c.-97-2405_-97-2404insTAAATATATAAATATACATTTATATATA AATATATAAATATACATTTATATATAAATATATAAATATACATTTATATA TAAATATATATAAATATACATTTATATATAAATATATATAAATATACATT TATATATAAATATATATAAATATACATTTATATATAAATATATATAAATA TACATTTATATATAAATATATATAAATATACATTTATATATAAATATATA TAAATATACATTTATATATAAATATATATAAATATACATGTATATTTATT CATATATAAATATATATAAATATACATGTATATTTATTCATATATAAATA TATATAAATATACATGTATATTTATTCATATATAAATATATATAAATATA CATGTATATTTATTCATATATAAATATATATAAATATACATGTATATTTA TTCATATATAAATATATATAAATATACATGTATATTTATTCATATATAAA TATATATAAATATACATGTATATTTATTCATATATAAATATATATAAATA TACATGTATATTTATTCACATATAAATATATATAAATATACATGTATATT TATTCACATATAAATATATATAAATATACATGTATATTTATTCACATATA AATATATATAAATATACATGTATATTTATTCACATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
HS3ST6_chr16_1906475_1923415	1920388	A A	AGTCCCCA others(659): Show AGTCCCCACAGTCTCAGCTATCCCCATGGTCTCAGCCATCCCCGTGGTCT CAGCAGTCCCCATGGTCTCAGGAGTCCCCACGGTCTCAGCCGTCCCCACG GTCTCAGCAGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCAGGAGTCCC CACGGACTCAGCCGTCCCCAGGGTCTCAGCCATCCCCAGGGTCTCAGCCG TCCCCACGGTCCCAGCCGTCCCCACCGTCTCAGCAGTCCCCACGGTCTCA GCCGTCCCCATGGTCTCAGCAGTCCCCACGGTCTCAGGAGTCCCCACGGT CTCAGCAGTCCCCACGGTCTCAGCCGTCCCCACCGTCTCAGGAGTCCCCA CCATCTCAGCCGTCCCCACGGTCTCAGGAGTCCCCATGGTCTCAACCGTC TCCACGGTCTCAGGAGTCCCCACGGTCTCAGTCATCCCCACGGTCCCAGC CGTCCCCACGGTCCAAGCCGTCCCCACAGTCCCAGCCGTCCCCACGGTCT CAGCCGTCCCCACGGTCTCCGCAGTCCCCACGGTCTCAGCCATCCCCACG GTCTCAGGAGTCCCCATGGTCTCAGCCGTCCCCACGGTCTCAGAAGTCCC CACGGTCTCAGCCGTCCCCACGGTCTCAGGAGCCCCCACGGTCTCAGCCG TCCCCATGGTCTCAGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01099.hp2 HG00642.hp1 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	2	433	0.0046	666	c.-20 others(677): Show c.-2066_-2065insGACTGAGACCATGGGGACGGCTGAGACCGTGGGG GCTCCTGAGACCGTGGGGACGGCTGAGACCGTGGGGACTTCTGAGACCGT GGGGACGGCTGAGACCATGGGGACTCCTGAGACCGTGGGGATGGCTGAGA CCGTGGGGACTGCGGAGACCGTGGGGACGGCTGAGACCGTGGGGACGGCT GGGACTGTGGGGACGGCTTGGACCGTGGGGACGGCTGGGACCGTGGGGAT GACTGAGACCGTGGGGACTCCTGAGACCGTGGAGACGGTTGAGACCATGG GGACTCCTGAGACCGTGGGGACGGCTGAGATGGTGGGGACTCCTGAGACG GTGGGGACGGCTGAGACCGTGGGGACTGCTGAGACCGTGGGGACTCCTGA GACCGTGGGGACTGCTGAGACCATGGGGACGGCTGAGACCGTGGGGACTG CTGAGACGGTGGGGACGGCTGGGACCGTGGGGACGGCTGAGACCCTGGGG ATGGCTGAGACCCTGGGGACGGCTGAGTCCGTGGGGACTCCTGAGACCGT GGGGACGGCTGAGACCGTGGGGACTGCTGAGACCGTGGGGACGGCTGAGA CCGTGGGGACTCCTGAGACCATGGGGACTGCTGAGACCACGGGGATGGCT GAGACCATGGGGATAGCTGAGACTGTGGGGAC	HS3ST6	ENSG00000162040.7	transcript	ENST00000454677.3	protein_coding		1974		chr16	TogoVar
HS3ST6_chr16_1906475_1923415	1920388	A A	AGTCCCCA others(659): Show AGTCCCCACAGTCTCAGCTATCCCCATGGTCTCAGCCATCCCCGTGGTCT CAGCAGTCCCCATGGTCTCAGGAGTCCCCACGGTCTCAGCCGTCCCCACG GTCTCAGCAGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCAGGAGTCCC CACGGACTCAGCCGTCCCCAGGGTCTCAGCCATCCCCAGGGTCTCAGCCG TCCCCACGGTCCCAGCCGTCCCCACCGTCTCAGCAGTCCCCACGGTCTCA GCCGTCCCCATGGTCTCAGCAGTCCCCACGGTCTCAGGAGTCCCCACGGT CTCAGCAGTCCCCACGGTCTCAGCCGTCCCCACCGTCTCAGGAGTCCCCA CCATCTCAGCCGTCCCCACGGTCTCAGGAGTCCCCATGGTCTCAACCGTC TCCACGGTCTCAGGAGTCCCCACGGTCTCAGTCATCCCCACGGTCCCAGC CGTCCCCACGGTCCAAGCCGTCCCCACGGTCCCAGCCGTCCCCACGGTCT CAGCCGTCCCCACGGTCTCCGCAGTCCCCACGGTCTCAGCCATCCCCACG GTCTCAGGAGTCCCCATGGTCTCAGCCGTCCCCACGGTCTCAGAAGTCCC CACGGTCTCAGCCGTCCCCACGGTCTCAGGAGCCCCCACGGTCTCAGCCG TCCCCATGGTCTCAGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00423.hp1 others(54): Show HG00140.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00741.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01255.hp1 HG01256.hp2 HG01346.hp2 HG01496.hp2 HG01934.hp1 HG01943.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp2 HG02132.hp1 HG02145.hp2 HG02165.hp1 HG02293.hp2 HG02698.hp1 HG03490.hp2 HG03492.hp2 HG03579.hp1 HG03669.hp1 HG04199.hp2 HG04204.hp2 NA18612.hp2 NA18939.hp2 NA18947.hp2 NA18948.hp2 NA18952.hp1 NA18954.hp1 NA18962.hp1 NA18963.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18979.hp1 NA18980.hp1 NA18985.hp2 NA18991.hp1 NA18993.hp1 NA19001.hp2 NA19002.hp1 NA19009.hp1 NA19011.hp1 NA19055.hp1 NA19077.hp1 NA19079.hp2 NA19082.hp2 NA19088.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0023 a0001c0001t0002g0003 a0001c0001t0002g0009 others(5): Show a0001c0001t0001g0023 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0004g0020	57	433	0.1316	666	c.-20 others(677): Show c.-2066_-2065insGACTGAGACCATGGGGACGGCTGAGACCGTGGGG GCTCCTGAGACCGTGGGGACGGCTGAGACCGTGGGGACTTCTGAGACCGT GGGGACGGCTGAGACCATGGGGACTCCTGAGACCGTGGGGATGGCTGAGA CCGTGGGGACTGCGGAGACCGTGGGGACGGCTGAGACCGTGGGGACGGCT GGGACCGTGGGGACGGCTTGGACCGTGGGGACGGCTGGGACCGTGGGGAT GACTGAGACCGTGGGGACTCCTGAGACCGTGGAGACGGTTGAGACCATGG GGACTCCTGAGACCGTGGGGACGGCTGAGATGGTGGGGACTCCTGAGACG GTGGGGACGGCTGAGACCGTGGGGACTGCTGAGACCGTGGGGACTCCTGA GACCGTGGGGACTGCTGAGACCATGGGGACGGCTGAGACCGTGGGGACTG CTGAGACGGTGGGGACGGCTGGGACCGTGGGGACGGCTGAGACCCTGGGG ATGGCTGAGACCCTGGGGACGGCTGAGTCCGTGGGGACTCCTGAGACCGT GGGGACGGCTGAGACCGTGGGGACTGCTGAGACCGTGGGGACGGCTGAGA CCGTGGGGACTCCTGAGACCATGGGGACTGCTGAGACCACGGGGATGGCT GAGACCATGGGGATAGCTGAGACTGTGGGGAC	HS3ST6	ENSG00000162040.7	transcript	ENST00000454677.3	protein_coding		1974		chr16	TogoVar
HS3ST6_chr16_1906475_1923415	1920388	A A	AGTCCCCA others(659): Show AGTCCCCACAGTCTCAGCTATCCCCATGGTCTCAGCCATCCCCGTGGTCT CAGCAGTCCCCATGGTCTCAGGAGTCCCCACGGTCTCAGCCGTCCCCACG GTCTCAGCAGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCAGGAGTCCC CACGGACTCAGCCGTCCCCAGGGTCTCAGCCATCCCCAGGGTCTCAGCCG TCCCCACGGTCCCAGCCGTCCCCACCGTCTCAGCAGTCCCCACGGTCTCA GCCGTCCCCATGGTCTCAGCAGTCCCCACGGTCTCAGGAGTCCCCACGGT CTCAGCAGTCCCCACGGTCTCAGCCGTCCCCACCGTCTCAGGAGTCCCCA CCATCTCAGCCGTCCCCACGGTCTCAGGAGTCCCCATGGTCTCAACCGTC TCCACGGTCTCAGGAGTCCCCACGGTCTCAGTCATCCCCACGGTCCCAGC CGTCCCCACGGTCCAAGCCGTCCCCACGGTCCCAGCCGTCCCCACGGTCT CAGCCGTCCCCACGGTCTCCGCAGTCCCCACGGTCTCAGCCTTCCCCACG GTCTCAGGAGTCCCCATGGTCTCAGCCGTCCCCACGGTCTCAGAAGTCCC CACGGTCTCAGCCGTCCCCACGGTCTCAGGAGCCCCCACGGTCTCAGCCG TCCCCATGGTCTCAGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	433	0.0023	666	c.-20 others(677): Show c.-2066_-2065insGACTGAGACCATGGGGACGGCTGAGACCGTGGGG GCTCCTGAGACCGTGGGGACGGCTGAGACCGTGGGGACTTCTGAGACCGT GGGGACGGCTGAGACCATGGGGACTCCTGAGACCGTGGGGAAGGCTGAGA CCGTGGGGACTGCGGAGACCGTGGGGACGGCTGAGACCGTGGGGACGGCT GGGACCGTGGGGACGGCTTGGACCGTGGGGACGGCTGGGACCGTGGGGAT GACTGAGACCGTGGGGACTCCTGAGACCGTGGAGACGGTTGAGACCATGG GGACTCCTGAGACCGTGGGGACGGCTGAGATGGTGGGGACTCCTGAGACG GTGGGGACGGCTGAGACCGTGGGGACTGCTGAGACCGTGGGGACTCCTGA GACCGTGGGGACTGCTGAGACCATGGGGACGGCTGAGACCGTGGGGACTG CTGAGACGGTGGGGACGGCTGGGACCGTGGGGACGGCTGAGACCCTGGGG ATGGCTGAGACCCTGGGGACGGCTGAGTCCGTGGGGACTCCTGAGACCGT GGGGACGGCTGAGACCGTGGGGACTGCTGAGACCGTGGGGACGGCTGAGA CCGTGGGGACTCCTGAGACCATGGGGACTGCTGAGACCACGGGGATGGCT GAGACCATGGGGATAGCTGAGACTGTGGGGAC	HS3ST6	ENSG00000162040.7	transcript	ENST00000454677.3	protein_coding		1974		chr16	TogoVar
HS3ST6_chr16_1906475_1923415	1920388	A A	AGTCCCCA others(659): Show AGTCCCCACAGTCTCAGCTATCCCCATGGTCTCAGCCATCCCCGTGGTCT CAGCAGTCCCCATGGTCTCAGGAGTCCCCACGGTCTCAGCCGTCCCCACG GTCTCAGCAGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCAGGAGTCCC CACGGACTCAGCCGTCCCCAGGGTCTCAGCCATCCCCAGGGTCTCAGCCG TCCCCACGGTCCCAGCCGTCCCCACCGTCTCAGCAGTCCCCACGGTCTCA GCCGTCCCCATGGTCTCAGCAGTCCCCACGGTCTCAGGAGTCCCCACGGT CTCAGCAGTCCCCACGGTCTCAGCCGTCCCCACCGTCTCAGGAGTCCCCA CCATCTCAGCCGTCCCCACGGTCTCAGGAGTCCCCATGGTCTCAACCGTC TCCACGGTCTCAGGAGTCCCCACGGTCTCAGTCATCCCCACGGTCCCAGC CGTCCCCACGGTCCAAGCCGTCCCCACGGTCCCAGCCGTCCCCACGGTCT CAGCCGTCCCCACGGTCTCCGCAGTCCTCACGGTCTCAGCCATCCCCACG GTCTCAGGAGTCCCCATGGTCTCAGCCGTCCCCACGGTCTCAGAAGTCCC CACGGTCTCAGCCGTCCCCACGGTCTCAGGAGCCCCCACGGTCTCAGCCG TCCCCATGGTCTCAGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	433	0.0023	666	c.-20 others(677): Show c.-2066_-2065insGACTGAGACCATGGGGACGGCTGAGACCGTGGGG GCTCCTGAGACCGTGGGGACGGCTGAGACCGTGGGGACTTCTGAGACCGT GGGGACGGCTGAGACCATGGGGACTCCTGAGACCGTGGGGATGGCTGAGA CCGTGAGGACTGCGGAGACCGTGGGGACGGCTGAGACCGTGGGGACGGCT GGGACCGTGGGGACGGCTTGGACCGTGGGGACGGCTGGGACCGTGGGGAT GACTGAGACCGTGGGGACTCCTGAGACCGTGGAGACGGTTGAGACCATGG GGACTCCTGAGACCGTGGGGACGGCTGAGATGGTGGGGACTCCTGAGACG GTGGGGACGGCTGAGACCGTGGGGACTGCTGAGACCGTGGGGACTCCTGA GACCGTGGGGACTGCTGAGACCATGGGGACGGCTGAGACCGTGGGGACTG CTGAGACGGTGGGGACGGCTGGGACCGTGGGGACGGCTGAGACCCTGGGG ATGGCTGAGACCCTGGGGACGGCTGAGTCCGTGGGGACTCCTGAGACCGT GGGGACGGCTGAGACCGTGGGGACTGCTGAGACCGTGGGGACGGCTGAGA CCGTGGGGACTCCTGAGACCATGGGGACTGCTGAGACCACGGGGATGGCT GAGACCATGGGGATAGCTGAGACTGTGGGGAC	HS3ST6	ENSG00000162040.7	transcript	ENST00000454677.3	protein_coding		1974		chr16	TogoVar
HS3ST6_chr16_1906475_1923415	1920388	A A	AGTCCCCA others(659): Show AGTCCCCACAGTCTCAGCTATCCCCATGGTCTCAGCCATCCCCGTGGTCT CAGCAGTCCCCATGGTCTCAGGAGTCCCCACGGTCTCAGCCGTCCCCACG GTCTCAGCAGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCAGGAGTCCC CACGGACTCAGCCGTCCCCAGGGTCTCAGCCATCCCCAGGGTCTCAGCCG TCCCCACGGTCCCAGCCGTCCCCACCGTCTCAGCAGTCCCCACGGTCTCA GCCGTCCCCATGGTCTCAGCAGTCCCCACGGTCTCAGGAGTCCCCACGGT CTCAGCAGTCCCCACGGTCTCAGCCGTCCCCACCGTCTCAGGAGTCCCCA CCATCTCAGCCGTCCCCACGGTCTCAGGAGTCCCCATGGTCTCAACCGTC TCCACGGTCTCAGGAGTCCCCACGGTCTCAGTCATCCCCACGGTCCCAGC CGTCCCCACGGTCCCAGCCGTCCCCACGGTCCCAGCCGTCCCCACGGTCT CAGCCGTCCCCACGGTCTCCGCAGTCCCCACGGTCTCAGCCATCCCCACG GTCTCAGGAGTCCCCATGGTCTCAGCCGTCCCCACGGTCTCAGAAGTCCC CACGGTCTCAGCCGTCCCCACGGTCTCAGGAGCCCCCACGGTCTCAGCCG TCCCCATGGTCTCAGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18962.hp2 NA18975.hp1 others(6): Show NA18940.hp1 NA18962.hp2 NA18975.hp1 NA18987.hp1 NA19004.hp2 NA19065.hp1 NA19081.hp2 NA19083.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0042 a0001c0001t0002g0055 a0001c0001t0002g0003 a0001c0001t0002g0042 a0001c0001t0002g0055	9	433	0.0208	666	c.-20 others(677): Show c.-2066_-2065insGACTGAGACCATGGGGACGGCTGAGACCGTGGGG GCTCCTGAGACCGTGGGGACGGCTGAGACCGTGGGGACTTCTGAGACCGT GGGGACGGCTGAGACCATGGGGACTCCTGAGACCGTGGGGATGGCTGAGA CCGTGGGGACTGCGGAGACCGTGGGGACGGCTGAGACCGTGGGGACGGCT GGGACCGTGGGGACGGCTGGGACCGTGGGGACGGCTGGGACCGTGGGGAT GACTGAGACCGTGGGGACTCCTGAGACCGTGGAGACGGTTGAGACCATGG GGACTCCTGAGACCGTGGGGACGGCTGAGATGGTGGGGACTCCTGAGACG GTGGGGACGGCTGAGACCGTGGGGACTGCTGAGACCGTGGGGACTCCTGA GACCGTGGGGACTGCTGAGACCATGGGGACGGCTGAGACCGTGGGGACTG CTGAGACGGTGGGGACGGCTGGGACCGTGGGGACGGCTGAGACCCTGGGG ATGGCTGAGACCCTGGGGACGGCTGAGTCCGTGGGGACTCCTGAGACCGT GGGGACGGCTGAGACCGTGGGGACTGCTGAGACCGTGGGGACGGCTGAGA CCGTGGGGACTCCTGAGACCATGGGGACTGCTGAGACCACGGGGATGGCT GAGACCATGGGGATAGCTGAGACTGTGGGGAC	HS3ST6	ENSG00000162040.7	transcript	ENST00000454677.3	protein_coding		1974		chr16	TogoVar
HS3ST6_chr16_1906475_1923415	1920388	A A	AGTCCCCA others(659): Show AGTCCCCACAGTCTCAGCTATCCCCATGGTCTCAGCCATCCCCGTGGTCT CAGCAGTCCCCATGGTCTCAGGAGTCCCCACGGTCTCAGCCGTCCCCACG GTCTCAGCAGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCAGGAGTCCC CACGGACTCAGCCGTCCCCAGGGTCTCAGCCATCCCCAGGGTCTCAGCCG TCCCCACGGTCCCAGCCGTCCCCACCGTCTCAGCAGTCCCCACGGTCTCA GCCGTCCCCATGGTCTCAGCAGTCCCCACGGTCTCAGGAGTCCCCACGGT CTCAGCAGTCCCTACGGTCTCAGCCGTCCCCACCGTCTCAGGAGTCCCCA CCATCTCAGCCGTCCCCACGGTCTCAGGAGTCCCCATGGTCTCAACCGTC TCCACGGTCTCAGGAGTCCCCACGGTCTCAGTCATCCCCACGGTCCCAGC CGTCCCCACGGTCCAAGCCGTCCCCACGGTCCCAGCCGTCCCCACGGTCT CAGCCGTCCCCACGGTCTCCGCAGTCCCCACGGTCTCAGCCATCCCCACG GTCTCAGGAGTCCCCATGGTCTCAGCCGTCCCCACGGTCTCAGAAGTCCC CACGGTCTCAGCCGTCCCCACGGTCTCAGGAGCCCCCACGGTCTCAGCCG TCCCCATGGTCTCAGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	433	0.0023	666	c.-20 others(677): Show c.-2066_-2065insGACTGAGACCATGGGGACGGCTGAGACCGTGGGG GCTCCTGAGACCGTGGGGACGGCTGAGACCGTGGGGACTTCTGAGACCGT GGGGACGGCTGAGACCATGGGGACTCCTGAGACCGTGGGGATGGCTGAGA CCGTGGGGACTGCGGAGACCGTGGGGACGGCTGAGACCGTGGGGACGGCT GGGACCGTGGGGACGGCTTGGACCGTGGGGACGGCTGGGACCGTGGGGAT GACTGAGACCGTGGGGACTCCTGAGACCGTGGAGACGGTTGAGACCATGG GGACTCCTGAGACCGTGGGGACGGCTGAGATGGTGGGGACTCCTGAGACG GTGGGGACGGCTGAGACCGTAGGGACTGCTGAGACCGTGGGGACTCCTGA GACCGTGGGGACTGCTGAGACCATGGGGACGGCTGAGACCGTGGGGACTG CTGAGACGGTGGGGACGGCTGGGACCGTGGGGACGGCTGAGACCCTGGGG ATGGCTGAGACCCTGGGGACGGCTGAGTCCGTGGGGACTCCTGAGACCGT GGGGACGGCTGAGACCGTGGGGACTGCTGAGACCGTGGGGACGGCTGAGA CCGTGGGGACTCCTGAGACCATGGGGACTGCTGAGACCACGGGGATGGCT GAGACCATGGGGATAGCTGAGACTGTGGGGAC	HS3ST6	ENSG00000162040.7	transcript	ENST00000454677.3	protein_coding		1974		chr16	TogoVar
HS3ST6_chr16_1906475_1923415	1920388	A A	AGTCCCCA others(659): Show AGTCCCCACAGTCTCAGCTATCCCCATGGTCTCAGCCATCCCCGTGGTCT CAGCAGTCCCCATGGTCTCAGGAGTCCCCACGGTCTCAGCCGTCCCCACG GTCTCAGCAGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCAGGAGTCCC CACGGACTCAGCCGTCCCCAGGGTCTCAGCCATCCCCAGGGTCTCAGCCG TCCCCACGGTCCCAGCCGTCCCCACCGTCTCAGCAGTCCCCACGGTCTCA GGAGTCCCCACGGTCTCAGCAGTCCCCACGGTCTCAGGAGTCCCCACGGT CTCAGCAGTCCCCACGGTCTCAGCCGTCCCCACCGTCTCAGGAGTCCCCA CCATCTCAGCCGTCCCCACGGTCTCAGGAGTCCCCATGGTCTCAACCGTC TCCACGGTCTCAGGAGTCCCCACGGTCTCAGTCATCCCCACGGTCCCAGC CGTCCCCACGGTCCCAGCCGTCCCCACGGTCCCAGCCGTCCCCACGGTCT CAGCCGTCCCCACGGTCTCCGCAGTCCCCACGGTCTCAGCCATCCCCACG GTCTCAGGAGTCCCCATGGTCTCAGCCGTCCCCACGGTCTCAGAAGTCCC CACGGTCTCAGCCGTCCCCACGGTCTCAGGAGCCCCCACGGTCTCAGCCG TCCCCATGGTCTCAGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	433	0.0023	666	c.-20 others(677): Show c.-2066_-2065insGACTGAGACCATGGGGACGGCTGAGACCGTGGGG GCTCCTGAGACCGTGGGGACGGCTGAGACCGTGGGGACTTCTGAGACCGT GGGGACGGCTGAGACCATGGGGACTCCTGAGACCGTGGGGATGGCTGAGA CCGTGGGGACTGCGGAGACCGTGGGGACGGCTGAGACCGTGGGGACGGCT GGGACCGTGGGGACGGCTGGGACCGTGGGGACGGCTGGGACCGTGGGGAT GACTGAGACCGTGGGGACTCCTGAGACCGTGGAGACGGTTGAGACCATGG GGACTCCTGAGACCGTGGGGACGGCTGAGATGGTGGGGACTCCTGAGACG GTGGGGACGGCTGAGACCGTGGGGACTGCTGAGACCGTGGGGACTCCTGA GACCGTGGGGACTGCTGAGACCGTGGGGACTCCTGAGACCGTGGGGACTG CTGAGACGGTGGGGACGGCTGGGACCGTGGGGACGGCTGAGACCCTGGGG ATGGCTGAGACCCTGGGGACGGCTGAGTCCGTGGGGACTCCTGAGACCGT GGGGACGGCTGAGACCGTGGGGACTGCTGAGACCGTGGGGACGGCTGAGA CCGTGGGGACTCCTGAGACCATGGGGACTGCTGAGACCACGGGGATGGCT GAGACCATGGGGATAGCTGAGACTGTGGGGAC	HS3ST6	ENSG00000162040.7	transcript	ENST00000454677.3	protein_coding		1974		chr16	TogoVar
IL1RAPL2_chrX_104561199_105772829	105307514	T T	TATATATA others(659): Show TATATATATTTTATATTATATATATTATATATAATATATATATTTTATAT TATATATATTATATATAATATATATATTTTATATTATATATATTATATAT AATATATATATTTTATATTATATATATTATATATAATATATATATTTTAT ATTATATATATTATATATAATATATATATTTTATATTATATATATTATAT ATAATATATATATTTTATATTATATATATTATATATAATATATATATTTT ATATTATATATATTATATATAATATATATATTTTATATTATATATATTAT ATATAATATATATATTTTATATTATATATATTATATATAATATATATATT TTATATTATATATATTATATATAATATATATATTTTATATTATATATATT ATATATAATATATATATTTTATATTATATATATTATATATAATATATATA TTTTATATTATATATATTATATATAATATATATTTTATATTATATATATT ATATATAATATATATTTTATATTATATATATTATATATAATATATATTTT ATATTATATATATTATATATAATATATATTTTATATTATATATATTATAT ATAATATATATTTTATATTATATATATTATATATAATATATATTTTATAT TATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	141	0.0071	666	c.697 others(685): Show c.697+40013_697+40014insATTTTATATTATATATATTATATATA ATATATATATTTTATATTATATATATTATATATAATATATATATTTTATA TTATATATATTATATATAATATATATATTTTATATTATATATATTATATA TAATATATATATTTTATATTATATATATTATATATAATATATATATTTTA TATTATATATATTATATATAATATATATATTTTATATTATATATATTATA TATAATATATATATTTTATATTATATATATTATATATAATATATATATTT TATATTATATATATTATATATAATATATATATTTTATATTATATATATTA TATATAATATATATATTTTATATTATATATATTATATATAATATATATAT TTTATATTATATATATTATATATAATATATATATTTTATATTATATATAT TATATATAATATATATTTTATATTATATATATTATATATAATATATATTT TATATTATATATATTATATATAATATATATTTTATATTATATATATTATA TATAATATATATTTTATATTATATATATTATATATAATATATATTTTATA TTATATATATTATATATAATATATATTTTATATTATATATATTATATATA ATATATATTTTATATTATATATATTATATATAATATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IQSEC3_chr12_61767_183455	163376	C C	CCACAGAA others(659): Show CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTC CTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGG ACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTC CACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTC CCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACA GAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCT CCCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAAC CGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCC TCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACTGGA CCCCTCCCCTGTCCCCT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0033 a0003c0005t0003g0033	1	282	0.0036	666	c.258 others(683): Show c.2584-107_2584-106insAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCC CTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCC CTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCC ACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCT CTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAAC CGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCC TCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGA GCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCC TCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCC TCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCA CAGAACTGGACCCCTCCCCTGTCCCCTCACAGAACCGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KHDRBS2_chr6_61674961_62291225	62114784	C C	CAACCACC others(659): Show CAACCACCCCAATTTTATTTTTTTATTTTATTTTTTTTTTATTTTATTTT TTTTTTTTTTTGAAATAGAAACAGTTTTATTTATTCCTTTCTGATCTATA TGCCTTTTATTCTCTTTTCTTGCCTGATTAAACTGGCCAGAACTTCCAGC ACTATGTTGAATAAGAGTGATGAGAGCACACATCCTTGTTTTGTTGCTGA TATTAGGAACAAAGTATTCAGTCTTTACAATTAGGTATAATGTTAGCTGC AAGTTTTTCGTAGATGCTTTTTATCAAGTTGAAGTTTCTTTCTATTATTG TTTTTCAAAAAAACTTTTTATCATGAATAGGCATTTAATTTTGTTGAATG CTTTTTCTTTTACATCAGTTGATATGATCATCTAATTTTTCTCCTTCTTT TTTAGTCTGTTAACATAGTGAATTACATTGATTGCGCCAGCCTTATATTT CGGGAATGAACTCTAATTGGTGACTTTTTATATATTGCTAAATTCTATTT AGCAACAGAATACTTCTTTTTATATATTGCTAAGTTCTATTTCCTATTTT CTTAGAAATTTTGCATCTGTATTCATGAAAGATATTGTTCTGTAATATTC TTTTTTTGTACTGTCTTTGTCTGGTTTTGGTATGCAGGTAATACCAGCTT GATGAAATAAATTGGGG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	244	0.0041	666	c.219 others(685): Show c.219+62400_219+62401insCCCCAATTTATTTCATCAAGCTGGTA TTACCTGCATACCAAAACCAGACAAAGACAGTACAAAAAAAGAATATTAC AGAACAATATCTTTCATGAATACAGATGCAAAATTTCTAAGAAAATAGGA AATAGAACTTAGCAATATATAAAAAGAAGTATTCTGTTGCTAAATAGAAT TTAGCAATATATAAAAAGTCACCAATTAGAGTTCATTCCCGAAATATAAG GCTGGCGCAATCAATGTAATTCACTATGTTAACAGACTAAAAAAGAAGGA GAAAAATTAGATGATCATATCAACTGATGTAAAAGAAAAAGCATTCAACA AAATTAAATGCCTATTCATGATAAAAAGTTTTTTTGAAAAACAATAATAG AAAGAAACTTCAACTTGATAAAAAGCATCTACGAAAAACTTGCAGCTAAC ATTATACCTAATTGTAAAGACTGAATACTTTGTTCCTAATATCAGCAACA AAACAAGGATGTGTGCTCTCATCACTCTTATTCAACATAGTGCTGGAAGT TCTGGCCAGTTTAATCAGGCAAGAAAAGAGAATAAAAGGCATATAGATCA GAAAGGAATAAATAAAACTGTTTCTATTTCAAAAAAAAAAAAAAATAAAA TAAAAAAAAAATAAAATAAAAAAATAAAATTGGGGTGGTT	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	2/8			chr6	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(659): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAG GGGAGGAGGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGA GAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAG AGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGA GGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGA GTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAGGA AGAGGGGAGGAGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0007 a0001c0014t0007	a0001c0014t0007g0091 a0001c0014t0007g0091	1	386	0.0026	666	c.-46 others(677): Show c.-4676_-4675insTCCTCCTCCTCCCCTCTTCCTTTCTCCCTCCTCC TCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCCTCCTC CCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTCTCCTC CTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCC TCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCCTCC TCTCTCCTCCTCCCCTCCTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTCC CCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTTTCT CCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTTTCT CTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTCCCC TTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTCCCT TTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCCCTC ATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTCCCT CCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCCTCC TCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(659): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAG GGGAGGAGGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGA GAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAG AGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGA GGGGAGGAGGAGGCAGAAGGAGGAAGGAGGGGGGAGGAGGTGAGGAAAGA GTCCGGTGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAGGAA GAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	386	0.0026	666	c.-46 others(677): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCTCCTC CTCCCCTCCTCCTTTCTCCCTCCTCCACCGGACTCTTTCCTCACCTCCTC CCCCCTCCTTCCTCCTTCTGCCTCCTCCTCCCCTCCTCCTTCCTCTCCTC CTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCC TCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCCTCC TCTCTCCTCCTCCCCTCCTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTCC CCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTTTCT CCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTTTCT CTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTCCCC TTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTCCCT TTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCCCTC ATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTCCCT CCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCCTCC TCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KLHL15_chrX_23978720_24032186	23982660	C C	CAAAAAAA others(659): Show CAAAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAGC TCCAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGAT GGAAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACTA AAATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAACA ATTGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATGT TTTGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAAT TCCAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTTG AGAAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGCA GTGGCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGATC ATCTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCCG TCTCTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTGT AATCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGAA GGTGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAGC AAGGCTCTGTCTAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0081 a0001c0001t0005g0081	1	286	0.0035	666	c.52 others(677): Show c.5260_*5261insTTTTTAGACAGAGCCTTGCTCTGGCTGGAATGCA GTGGTGTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGTTCAAGTGAT TCTCCTGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGCATGTGCCAC CATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTT GGACAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGTTCGGCC TCCCAACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCAGCCTACAAC TTTTATTCTGATACCCATCATATCTGTATTTCTCAACGCAGAGTTCCAAC CATCTCCTGAACATCTCTCACTGTTGTATTGGAATTTCAAACTGAACAAG TGCAAATCTGAATACATTGTCTACTCCCCCAAAACATGCCACTTATCTTC TCTGTATTATCTGGCTTTACCATTGCCTACAATTGTTCATGTATAACCTC GGCATGTCTCTCTCCCACTTAACCCCAACATTTTAGTTCATCCAGTTCTA GCACTTTAAACTCTCAACTGCCCTCTCCTTTCCATCCATACTGTCCTAGT TCAGACCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTGATCATCTAC CTCCATCATCCACTTTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1059		chrX	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATA others(659): Show TATATATATCCATATATATATATCCATATATATATATATCCATATATATA TATCCATATATATATATATCCATATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATCCATATATATATATCCATATATA TATATCCATATATATATATATCCATATATATATATATCCATATATATATA TCCATATATATATATCCATATATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATATATATATCCATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATCCATATATATA TATATCCATATATATATCCATATATATATATATCCATATATATATCCATA TATATATATATCCATATATATATATCCATATATATATATATCCATATATA TATCCATATATATATATATCCATATATATATATCCATATATATATATATC CATATATATATATCCATATATATATATATCCATATATATATATCCATATA TATATATATCCATATATATATATCCATATATATATATATCCATATATATA TATCCATATATATATATATCCATATATATATATCCATATATATATATATC CATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0235 a0002c0002t0002g0235	1	284	0.0035	666	c.126 others(683): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATGGAT ATATATATATATGGATATATATATATGGATATATATATATATGGATATAT ATATGGATATATATATATATGGATATATATATGGATATATATATATATGG ATATATATATATGGATATATATATATATGGATATATATATATGGATATAT ATATATGGATATATATATATATATATGGATATATATATATATGGATATAT ATATATGGATATATATATATATGGATATATATATATGGATATATATATAT GGATATATATATATATGGATATATATATATATGGATATATATATATGGAT ATATATATATGGATATATATATGGATATATATATATATGGATATATATAT ATGGATATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LHPP_chr10_124456823_124619141	124471507	T T	TATATAAA others(659): Show TATATAAATTTTTTTATATTTATATATTTTTTATATATTTATATATATTA CATATATTTTTATATTTTATATATATTTATATATTTTATATATTTATATA TTTTTTATATATTTATATATTTATATATATATTTATATATATTTATGTAT ATTTATATATATATTTATATATATTTATGTATATTTATATATATATTTAT ATATATTTATGTATATTTATATATATATTTATATATATTTATGTATATTT ATATATATTTATATATTTATGTCTATATTTATATATATTTATATATTTAT GTATAAATTTATATATATTTATATGTATTTATATATATATTTATATGTAT TTATATATATTTATATATTTATATGTATTTATACATATATATTTATATGT ATTTATATATATTTATATATATTTTTTATGTATTTATATATATTTATATA TATATTTATATATATTTATATATATATTTATATATATTTATATATATATT TATATATATTTATATATATATTTATATATATTTATATATATATTTATATA TATATTATTTATATATATATTTATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATTTA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0122 a0002c0002t0001g0122	1	260	0.0039	666	c.125 others(683): Show c.125+9520_125+9521insATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATATT TATATATATTTATGTATATTTATATATATTTATATATTTATGTCTATATT TATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATT TATATATATATTTATATGTATTTATATATATTTATATATTTATATGTATT TATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTAT GTATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATATTATTTATATATATATTTATATATA TTTATATATATTTATATATATATTTATATATATTTATATATATTTATATA TATTTATATATATATTTATATATATTTATATATATTTA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6			chr10	TogoVar
LMLN_chr3_197955217_198048720	198013733	T T	TCCCCTAA others(659): Show TCCCCTAACTAGTCTGACTTCTCTCCACCCTTCAGAGCCCCCTAACTAGT CTGACTTCTCTCCACCCTTCAGAGCCTCCTAACTAGTCGGACTTCTCTGT ACCCTTCAGAGCCCCTTAACTAGTCTGACTTCTCTGTACCCTTCAGAGCC CCCTAACTAGTCTGACTTCTCTGTACCCTTCAGAGCCCCCTAACTAGTCT GACTTCTCTCCACCCCTCAGAGCCCCCTAACTAGTCTGACTTCTCTCCAC CCTTTAGAGCCCCCTAACTAGTCTGACTTCTCTCCACCCTTTAGAGCCCT CTAACTAGTCTGACTTCTCTGTACCCTTCAGAGCCTCCTAACTAGTCTGA CTTCTCTGTACCCTTCAGAGTCCCCTAACTAGTCTGACTTCTCTGTACCC TTCAGAGTCCCCTAACTAGTCTGACTTCTCTGTACCCTTCAGAGCCTCCT AACTAGTCTGACTTCTCTGTACCCTTCAGAGCCCCTTAACTAGTCTGACT TCTCTGTATCCTTCAGAGCCCCCTAACTAGTCTGACTTCTCTCCACCCTT CAGAGTCCCCTAACTAGTCTGACTTCTCTCCACCCTTCAGAGCCCCCTAA CTAGTCTGACTTCTCTCCACCCATCAGAGCCCCCTAACTAGTCTAACTTC TCTGTATCCTTCAGAGC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0041 a0001c0005t0041	a0001c0005t0041g0143 a0001c0005t0041g0143	1	258	0.0039	666	c.132 others(685): Show c.1320-5444_1320-4779dupTCCTAACTAGTCGGACTTCTCTGTAC CCTTCAGAGCCCCTTAACTAGTCTGACTTCTCTGTACCCTTCAGAGCCCC CTAACTAGTCTGACTTCTCTGTACCCTTCAGAGCCCCCTAACTAGTCTGA CTTCTCTCCACCCCTCAGAGCCCCCTAACTAGTCTGACTTCTCTCCACCC TTTAGAGCCCCCTAACTAGTCTGACTTCTCTCCACCCTTTAGAGCCCTCT AACTAGTCTGACTTCTCTGTACCCTTCAGAGCCTCCTAACTAGTCTGACT TCTCTGTACCCTTCAGAGTCCCCTAACTAGTCTGACTTCTCTGTACCCTT CAGAGTCCCCTAACTAGTCTGACTTCTCTGTACCCTTCAGAGCCTCCTAA CTAGTCTGACTTCTCTGTACCCTTCAGAGCCCCTTAACTAGTCTGACTTC TCTGTATCCTTCAGAGCCCCCTAACTAGTCTGACTTCTCTCCACCCTTCA GAGTCCCCTAACTAGTCTGACTTCTCTCCACCCTTCAGAGCCCCCTAACT AGTCTGACTTCTCTCCACCCATCAGAGCCCCCTAACTAGTCTAACTTCTC TGTATCCTTCAGAGCCCCCTAACTAGTCTGACTTCTCTCCACCCTTCAGA GCCCCCTAACTAGTCTGACTTCTCTCCACCCTTCAGAGCC	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(659): Show CCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCG GGCCACGTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTACACA CCCGGGCCACTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTAC TACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTT ACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGC TTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTA CATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0024 a0002c0009t0024	a0002c0009t0024g0122 a0002c0009t0024g0122	1	296	0.0034	666	c.368 others(683): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAG TAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGT GTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGC CCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTA AGCGGCCCGGGTGTGTAGTAGGTAAGTAAGTGGCCCGGGTGTGTAGTAGG TAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTA AGTAAGTAAGTGGCCCGGGTATGTAGTAAGTACGTGGCCCGGGTATGTAG TAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(659): Show CCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCG GGCCACGTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTACACA CCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTAC TACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTT ACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGC TTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACA CACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCT ACTACACACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTA CATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0009 a0004c0012t0009	a0004c0012t0009g0242 a0004c0012t0009g0242	1	296	0.0034	666	c.368 others(683): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAG CGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTA AGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAG TAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGT GTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGC CCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTA AGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGG TAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTA AGTAAGTAAGTGGCCCGGGTATGTAGTAAGTACGTGGCCCGGGTATGTAG TAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(659): Show CCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCG GGCCACGTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTACACA CCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTAC TACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTT ACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGC TTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACA CACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTA CATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0009 a0004c0012t0009	a0004c0012t0009g0221 a0004c0012t0009g0221	1	296	0.0034	666	c.368 others(683): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTA AGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAG TAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGT GTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGC CCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTA AGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGG TAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTA AGTAAGTAAGTGGCCCGGGTATGTAGTAAGTACGTGGCCCGGGTATGTAG TAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(659): Show CCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCG GGCCACGTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTACACA CCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTAC TACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTT ACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGC TTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTA CATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0101 a0002c0002t0004g0101	1	296	0.0034	666	c.368 others(683): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAG TAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGT GTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGC CCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTA AGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGG TAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTA AGTAAGTAAGTGGCCCGGGTATGTAGTAAGTACGTGGCCCGGGTATGTAG TAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(659): Show CCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCG GGCCACGTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTACACA CCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTAC TACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTT ACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGC TTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTA CATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01358.hp2 HG00438.hp1 HG01358.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0004 a0001c0001t0004 a0002c0002t0004	a0001c0001t0004g0186 a0002c0002t0004g0117 a0001c0001t0004g0186 a0002c0002t0004g0117	2	296	0.0068	666	c.368 others(683): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAG TAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGT GTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGC CCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTA AGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGG TAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTA AGTAAGTAAGTGGCCCGGGTATGTAGTAAGTACGTGGCCCGGGTATGTAG TAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC27_chr10_132327193_132386508	132364373	C C	CCACGCTT others(659): Show CCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACCCTTACATCTACCACACCCACACTTACACCCACCCTTACATCTA CCACACCCACACTTACACCCACCCACACTTACACCCACACTTACATCTAC CTCCACACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACAC TCACACCCACGCTTACATCTACCTCCACACCCACACTTACACTCATGCTT ACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGC TTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCAC CCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCC ACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACCCTTACATCTACCTCCACACCCACAATTACACCCACGCTTACATCT ACCTCCACACCCACACTTACACCCACACTTACATCTACCTCCACACCCAC ACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTTACACCCACCCTTACATCTACCTCCACACCCACAATTACACCCAC GCTTACATCTACCTCCA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0113 a0001c0001t0009g0113	1	290	0.0035	666	c.129 others(685): Show c.1290-1048_1290-1047insGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACCCTTACATCTACCACACCCACACT TACACCCACCCTTACATCTACCACACCCACACTTACACCCACCCACACTT ACACCCACACTTACATCTACCTCCACACCCACACTTACACCCACGCTTAC ATCTACCTCCACACCCACACTCACACCCACGCTTACATCTACCTCCACAC CCACACTTACACTCATGCTTACATCTACCTCCACACCCACACTCACACCC ACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACAC CCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACAA TTACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACACTT ACATCTACCTCCACACCCACACTCACACCCACCCTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCC ACACCCACAATTACACCCACGCTTACATCTACCTCCACAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MBNL3_chrX_132364320_132494038	132396681	T T	TATATATA others(659): Show TATATATATTCATATATATATTCATATATAGATTCATATATATATATTCA TATATAGATTCATATATAGATTCATATATAGATTCATATATAGATTCATA TATAGATTCATATATATTCATATATAGATTCATATATATTCATATATATA TTCATATATATTCATATATATATTCATATATATATTCATATATATTCATA TATATATTCATATATATATTCATATATATATTCATATATATATTCATATA TATATTCATATATATATTCATATATATTCATATATATATTCATATATATT CATATATATATTCATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATTCATATATATATTCATATATATATTCATATATATA TTCATATATATTCATATATATATTCATATATATATTCATATATATATTCA TATATATATTCATATATATTCATATATATATTCATATATATATTCATATA TATATTCATATATATTCATATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATTCATATATATATTCATA TATATATTCATATATATATTCATATATATATTCATATATATATTCATATA TATTCATATATATATTC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0143 a0001c0001t0005g0143	1	191	0.0052	666	c.343 others(683): Show c.343-4348_343-4347insGAATATATATATGAATATATATGAATAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATATGAATATATATGAATATATATATGAATATATATATGAATATATATAT GAATATATATGAATATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATGAATATATATATGAATATATAT ATGAATATATATATGAATATATATATGAATATATATGAATATATATATGA ATATATATATGAATATATATATGAATATATATGAATATATATATGAATAT ATATGAATATATATATGAATATATATGAATATATATATGAATATATATGA ATATATATATGAATATATATGAATATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATGAATATATATATGAATATATATATGAATATATATGAATATATATATGA ATATATATGAATCTATATATGAATATATATGAATCTATATATGAATCTAT ATATGAATCTATATATGAATCTATATATGAATCTATATATGAATATATAT ATATGAATCTATATATGAATATATATATGAATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MEGF6_chr1_3482951_3616508	3583450	G G	GCAGCCAC others(659): Show GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCC ACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAAC CCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAG CCACCAGACAACCCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCC ACAGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACA ACGCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCA GACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGC AGCCACCAGACAACCCA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0018 a0018	a0018c0013 a0018c0013	a0018c0013t0046 a0018c0013t0046	a0018c0013t0046g0189 a0018c0013t0046g0189	1	292	0.0034	666	c.377 others(683): Show c.377-3522_377-3521insTGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGCGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTG GCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MICAL3_chr22_17782649_18029561	17877403	T T	TATGGAGG others(659): Show TATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGG AGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTT ATGGAGGTGAGGGAGGTTAGGGAGGTTAGGGAGATTATGGAGGTTAGGGA GGTTAAGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTA GGGAAGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAGATTATGGAG GTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGG TTAGGGAGGTTATGGAGGTTAGGGAAGTTAGGGAGGTTAGGGAGGTTAGG GAGGTTATGGAGGTTAGGGAAGTTAGGGAGGTTATGGAGGTTAGGGAGGT TATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTGAGGG AGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTT AGGGAGGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGA GGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTA GGGAGGTTATGGAGGTG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	274	0.0037	666	c.224 others(685): Show c.2242-5381_2242-5380insCACCTCCATAACCTCCCTAACCTCCA TAACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACC TCCCTAACCTCCATAATCTCCCTAACCTCCATAACCTCCCTAACCTCCAT AACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTCACCT CCATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTA ACCTCCATAACCTCCCTAACTTCCCTAACCTCCATAACCTCCCTAACCTC CCTAACCTCCCTAACTTCCCTAACCTCCATAACCTCCCTAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCC ATAACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCATAAT CTCCCTAACCTCCATAACTGCCATAACCTCCATAACTTCCCTAACCTCCC TAACCTCCCTAACCTCCATAACTTCCCTAACCTCCTTAACCTCCCTAACC TCCATAATCTCCCTAACCTCCCTAACCTCCCTCACCTCCATAACCTCCCT CACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACCTCCCTCACCT CCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCAT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877558	T T	TGGAGGTT others(659): Show TGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAG GTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAG GGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGG TTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGG GAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGT TAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGG AGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTG AGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGA GGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTA TGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAG GTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGATTATGGAGGTTAG GGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAGG TTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGG GAGGTTATGGAGGTGAG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0109 a0001c0001t0005g0109	1	274	0.0037	666	c.224 others(685): Show c.2242-5536_2242-5535insCTCACCTCCATAACCTCCCTAACCTC CATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCA CCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCC ATAATCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAAC CTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCC TAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACC TCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCAT AACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCT CCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATA ACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTC CATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCATAA CTTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCC CTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTCACCTCCCTAAC CTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(659): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCC CTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCC CGTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCCCTCC TCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTC CCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCTCCT CCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTC CCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	140	0.0071	666	c.114 others(685): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTC TTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCT CTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTCT CCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCCC TCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCT CTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCC CCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCC CTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(659): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02027.hp1 HG01071.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0194 a0002c0002t0002g0289 a0002c0002t0002g0194 a0002c0002t0002g0289	2	364	0.0055	666	c.394 others(681): Show c.394-608_394-607insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATA TATATATTCATATATATATGTTCATATATATATTCATATATATGTTCATA TATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCA TATATATATTCATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MUSK_chr9_110663791_110811558	110690562	A A	ATATATAA others(659): Show ATATATAAAAATATATATATTTAAATATAAGTATATATTTAAATATATAT ACTTATATATAAGTATATATTTAAATATATATACTTATATATAAGTATAT ATATTTAAATATATACTTATATATAAGTATATATATAAATATATATACTT ATATATAAGTATATATAAATATATATACTTATATATAAGTATATATATTT ATATATACTTATATATAAGTATATATATTTATATATATACTTATATATAA ATATATATATTTATATATATACTTATATATAAGTATATATATAAATATAT ATACTTATATATAAGTATATATATAAATATATATATTTATATATAAGTAT ATATATAAATATATATACTTATATATAAGTATATATAAATATATATACTT ATATATAAGTATATATATTTATATATAAGTATATATATAAATATATATAT TTATATATAAGTATATATATATATTTATATATACGTATATATATATATTT ATATATAAGTATATATATATATTTATATATACGTATATATATATATTTAT ATATAAGTATATATATATATTTATATATAAGTATATATATATATTTATAT ATAAGTATATATATAAATATATATATTTAAATATAAGTATATATAAATAT ATATATTTAAATATAAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0020 a0001c0001t0028g0020	1	326	0.0031	666	c.358 others(683): Show c.358+3300_358+3301insAAAATATATATATTTAAATATAAGTATA TATTTAAATATATATACTTATATATAAGTATATATTTAAATATATATACT TATATATAAGTATATATATTTAAATATATACTTATATATAAGTATATATA TAAATATATATACTTATATATAAGTATATATAAATATATATACTTATATA TAAGTATATATATTTATATATACTTATATATAAGTATATATATTTATATA TATACTTATATATAAATATATATATTTATATATATACTTATATATAAGTA TATATATAAATATATATACTTATATATAAGTATATATATAAATATATATA TTTATATATAAGTATATATATAAATATATATACTTATATATAAGTATATA TAAATATATATACTTATATATAAGTATATATATTTATATATAAGTATATA TATAAATATATATATTTATATATAAGTATATATATATATTTATATATACG TATATATATATATTTATATATAAGTATATATATATATTTATATATACGTA TATATATATATTTATATATAAGTATATATATATATTTATATATAAGTATA TATATATATTTATATATAAGTATATATATAAATATATATATTTAAATATA AGTATATATAAATATATATATTTAAATATAAGTATATA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
NEU4_chr2_241804193_241822413	241805669	A A	ACCCTCCC others(659): Show ACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCA GGGACCTCTGCAGGCCACCCTCCCTCCCTCCTCAACCCAGGGACCTCCGC AGGCCACCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA ACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCCTCAACCCAGGGAC CTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGGATGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCGCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAT GTCTGCAGGCCACCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	319	0.0031	666	c.-36 others(677): Show c.-3609_-3608insCCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCC CTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCTCAA CCCAGGGACCTCCGCAGGCCACCCTCCCTCCTCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC CCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGG GACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCGCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGATGTCTGCAGGCCACCCTC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3523		chr2	TogoVar
NRCAM_chr7_108142649_108461436	108163992	G G	GGGGTAAT others(659): Show GGGGTAATGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATA CCGGGTGGGGTGGGGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTG AGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGG TGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGGTCAT ACCGGGTGGGGTGGGGTAGTGAGAGGTCATACCAGGTGGGGTGGGGTAGT GAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATACCGGGTGG GGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTC ATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTA ATGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATACCGGGT GGGGTGGGGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGT CATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCGG TAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATACCGGG TGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAG GTCATACCAGGTGGGGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp1 HG03209.hp1 others(1): Show HG01891.hp2 HG02280.hp1 HG03209.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0135 a0001c0001t0001g0148 others(1): Show a0001c0001t0001g0032 a0001c0001t0001g0135 a0001c0001t0001g0148 a0001c0001t0001g0149	4	208	0.0192	666	c.346 others(685): Show c.3466+2928_3466+2929insACCCCACCTGGTATGACCTCTCATTA CCGCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCCGGTATG ACCTCTCACTACCCCACCCCACCCGGTATGACCTCTCATTACCGCCACCC CACCCGGTATGACCTCTCACTACCCCACCCCACCTGGTATGACCTCTCAC TACCCCACCCCACCTGGTATGACCTCTCATTACCCCACCCCACCCGGTAT GACCTCTCATTACCGCCACCCCACCCGGTATGACCTCTCATTACCCCACC CCACCCGGTATGACCTCTCACTACCCCACCCCACCTGGTATGACCTCTCA TTACCGCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCCGGT ATGACCTCTCATTACCGCCACCCCACCCGGTATGACCTCTCACTACCCCA CCCCACCTGGTATGACCTCTCACTACCCCACCCCACCCGGTATGACCTCT CACTACCCCACCCCACCCGGTATGACCTCTCATTACCGCCACCCCACCCG GTATGACCTCTCACTACCCCACCCCACCTGGTATGACCTCTCACTACCCC ACCCCACCTGGTATGACCTCTCATTACCCCACCCCACCCGGTATGACCTC TCATTACCGCCACCCCACCCGGTATGACCTCTCATTACCC	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NRCAM_chr7_108142649_108461436	108164055	C C	CGGTAATG others(659): Show CGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATACC GGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAG AGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATACCAGGTGGGGT GGGGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATAC CGGGTGGGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAATG AGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCAGGTGGGG TGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCAT ACCGGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAGT GAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGG GTGGCGGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCA TACCGGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTGGGGTGGCGGTA ATGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATACCAGGTG GGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGT CATACCGGGTGGGGTGG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	208	0.0048	666	c.346 others(685): Show c.3466+2865_3466+2866insCCACCCCACCCGGTATGACCTCTCAT TACCGCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCTGGTA TGACCTCTCATTACCCCACCCCACCCGGTATGACCTCTCATTACCGCCAC CCCACCCGGTATGACCTCTCATTACCCCACCCCACCCGGTATGACCTCTC ACTACCCCACCCCACCTGGTATGACCTCTCATTACCGCCACCCCACCCGG TATGACCTCTCACTACCCCACCCCACCCGGTATGACCTCTCACTACCCCA CCCCACCCGGTATGACCTCTCACTACCCCACCCCACCCGGTATGACCTCT CATTACCGCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCTG GTATGACCTCTCACTACCCCACCCCACCTGGTATGACCTCTCATTACCCC ACCCCACCCGGTATGACCTCTCATTACCGCCACCCCACCCGGTATGACCT CTCATTACCCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCT GGTATGACCTCTCATTACCGCCACCCCACCCGGTATGACCTCTCACTACC CCACCCCACCCGGTATGACCTCTCATTACCCCACCCCACCCGGTATGACC TCTCACTACCCCACCCCACCCGGTATGACCTCTCATTACC	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(659): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTACTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCC TCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0048 a0048	a0048c0173 a0048c0173	a0048c0173t0001 a0048c0173t0001	a0048c0173t0001g0037 a0048c0173t0001g0037	1	268	0.0037	666	c.292 others(681): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCCCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTC CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGT ACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCC TCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTC ACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(659): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCC TCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTAC TGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCT GTACTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCC ACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0266 a0001c0028t0001g0266	1	268	0.0037	666	c.292 others(681): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTC CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTG TGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCAC CTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
PIGR_chr1_206923522_206951466	206924611	T T	TGAGTGTG others(659): Show TGAGTGTGTGAGTGTGTGGTGTGTAGTTATGAGTGTGTGTGTTCTCTGTC TAGTGTGTGTGTGGTTATGTGTGTGTGATTGTGTGTGTGGTGTGTGTCCA TGAGTGTGTGTGTGCTCTGTAGAGTGTGTAAGTGTGTGGCGTGTGGCTAT GAGTGTGTGTGCACTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTGTG TGTGTGCTCTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTGTGTGTGT GTGCTCTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTGTGTGTGCTCT GTCTAGTGTGTGTGTGGTGTGTGGTTATGTGTGTGTGATTGTGTGTGTGA TGTGTGTCCATGAGTGTGTGTGTGCTCCGTGGAGTGTGTGAATGTGTGGT GTGTGGCTATGAGTGTGTGTGAATGTGTGGTGTGTGGCTATGAGTGTGTG TGAATGTGTGGTGTGTGGCTATGTGTGTGTGCTATGTGTTGTGTGTGGTA TGTAGTTATGAGTGTGTGTCACTGCGTGGTGTGTGGCTATGAGTGTGTGT GTGCTCTGTGGAGTGTGTGTGTGGTGTGTGGCTACGAGTGTGTGTGTGCT CTGTCTAGTATGTGTGGTGTGTGGTTATGTGTGTGGTGTGCATCCATGAG TGTGTGTATGCTCTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG02257.hp2 HG02970.hp2 HG01496.hp1 HG02257.hp2 HG02970.hp2	a0004 a0008 a0004 a0008	a0004c0004 a0008c0010 a0004c0004 a0008c0010	a0004c0004t0004 a0008c0010t0020 a0004c0004t0004 a0008c0010t0020	a0004c0004t0004g0114 a0008c0010t0020g0085 a0008c0010t0020g0086 a0004c0004t0004g0114 a0008c0010t0020g0085 a0008c0010t0020g0086	3	402	0.0075	666	c.57 others(677): Show c.5706_*5707insCACAGAGCATACACACACTCATGGATGCACACCA CACACATAACCACACACCACACATACTAGACAGAGCACACACACACTCGT AGCCACACACCACACACACACTCCACAGAGCACACACACACTCATAGCCA CACACCACGCAGTGACACACACTCATAACTACATACCACACACAACACAT AGCACACACACATAGCCACACACCACACATTCACACACACTCATAGCCAC ACACCACACATTCACACACACTCATAGCCACACACCACACATTCACACAC TCCACGGAGCACACACACACTCATGGACACACATCACACACACAATCACA CACACATAACCACACACCACACACACACTAGACAGAGCACACACACTCAT AGCCACACACCACACACACACTCCACAGAGCACACACACACACTCATAGC CACACACCACACACACACTCCACAGAGCACACACACACTCATAGCCACAC ACCACACACACACTCCACAGTGCACACACACTCATAGCCACACGCCACAC ACTTACACACTCTACAGAGCACACACACACTCATGGACACACACCACACA CACAATCACACACACATAACCACACACACACTAGACAGAGAACACACACA CTCATAACTACACACCACACACTCACACACTC	PIGR	ENSG00000162896.6	transcript	ENST00000356495.5	protein_coding		3910		chr1	TogoVar
PLCB1_chr20_8127266_8889900	8662119	T T	TATAATTA others(659): Show TATAATTATATATAATTATATATAATTATATAATTATATATAATTGTATA TAATTATTTATTATATAATTATATATTATTTATTATATAATTATATAATT ATATATTATTTATTATATATTATATAATTATATAATTATATATTATTTAT TATATAATATATAATTATATATTATTTATTATATAATTATATATTATTTA TTATATATATTATTTATTATATAATTATATATTATGTATTATATAATTAT ATAATTATATATTATGTATTATATAATTATATATTATGTATTATATAATT ATATAATTATATATTATGTATTATATAATTATATATTATTTATTATATAA TTATATAATTATATATTATTTATTATATAATTATATAATTATATATTATT TATTATATAATTATATAATTATATATTATTTATTATATAATTATATAATT ATATATTATTTATTATATAATTATATATTATTTATTATATAATTATATAT TATTTATTACATAAATATATATTATTTATTACATAAGTATATATCACTTA TTATATAATTGCATATAATTATTTATTATATAATTGCATATAATTATTTA TTATATAATTGTATATAGTTATTTATTATATAATTGTATATAGTTATTTA TTATATAATTCTATATA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01346.hp2 HG01496.hp1 others(9): Show HG01074.hp2 HG01346.hp2 HG01496.hp1 HG01517.hp1 HG01934.hp1 HG02280.hp1 HG03139.hp2 NA18948.hp2 NA18999.hp2 NA19009.hp2 NA20129.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009	a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 a0001c0002t0005 a0001c0002t0013 a0001c0003t0001 a0001c0003t0008 a0001c0003t0009 a0001c0005t0002 a0001c0009t0002	a0001c0001t0001g0092 a0001c0001t0004g0105 a0001c0002t0003g0075 others(9): Show a0001c0001t0001g0092 a0001c0001t0004g0105 a0001c0002t0003g0075 a0001c0002t0005g0054 a0001c0002t0013g0005 a0001c0003t0001g0034 a0001c0003t0001g0047 a0001c0003t0001g0098 a0001c0003t0008g0004 a0001c0003t0009g0053 a0001c0005t0002g0064 a0001c0009t0002g0103	12	106	0.1132	666	c.862 others(683): Show c.862+3417_862+3418insAATTATATATAATTATATATAATTATAT AATTATATATAATTGTATATAATTATTTATTATATAATTATATATTATTT ATTATATAATTATATAATTATATATTATTTATTATATATTATATAATTAT ATAATTATATATTATTTATTATATAATATATAATTATATATTATTTATTA TATAATTATATATTATTTATTATATATATTATTTATTATATAATTATATA TTATGTATTATATAATTATATAATTATATATTATGTATTATATAATTATA TATTATGTATTATATAATTATATAATTATATATTATGTATTATATAATTA TATATTATTTATTATATAATTATATAATTATATATTATTTATTATATAAT TATATAATTATATATTATTTATTATATAATTATATAATTATATATTATTT ATTATATAATTATATAATTATATATTATTTATTATATAATTATATATTAT TTATTATATAATTATATATTATTTATTACATAAATATATATTATTTATTA CATAAGTATATATCACTTATTATATAATTGCATATAATTATTTATTATAT AATTGCATATAATTATTTATTATATAATTGTATATAGTTATTTATTATAT AATTGTATATAGTTATTTATTATATAATTCTATATAAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8662119	T T	TATATATA others(659): Show TATATATAATTATATATAATTATATATAATTATATAATTATATATAATTG TATATAATTATTTATTATATAATTATATATTATTTATTATATAATTATAT AATTATATATTATTTATTATATATTATATAATTATATAATTATATATTAT TTATTATATAATATATAATTATATATTATTTATTATATAATTATATATTA TTTATTATATATATTATTTATTATATAATTATATATTATGTATTATATAA TTATATAATTATATATTATGTATTATATAATTATATATTATGTATTATAT AATTATATAATTATATATTATGTATTATATAATTATATATTATTTATTAT ATAATTATATAATTATATATTATTTATTATATAATTATATAATTATATAT TATTTATTATATAATTATATAATTATATATTATTTATTATATAATTATAT AATTATATATTATTTATTATATAATTATATATTATTTATTATATAATTAT ATATTATTTATTACATAAATATATATTATTTATTACATAAGTATATATCA CTTATTATATAATTGCATATAATTATTTATTATATAATTGCATATAATTA TTATATAATTGTATATAGTTATTTATTATATAATTGTATATAGTTATTTA TTATATAATTCTATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0008 a0005c0015t0008	a0005c0015t0008g0002 a0005c0015t0008g0002	1	106	0.0094	666	c.862 others(683): Show c.862+3417_862+3418insATATAATTATATATAATTATATATAATT ATATAATTATATATAATTGTATATAATTATTTATTATATAATTATATATT ATTTATTATATAATTATATAATTATATATTATTTATTATATATTATATAA TTATATAATTATATATTATTTATTATATAATATATAATTATATATTATTT ATTATATAATTATATATTATTTATTATATATATTATTTATTATATAATTA TATATTATGTATTATATAATTATATAATTATATATTATGTATTATATAAT TATATATTATGTATTATATAATTATATAATTATATATTATGTATTATATA ATTATATATTATTTATTATATAATTATATAATTATATATTATTTATTATA TAATTATATAATTATATATTATTTATTATATAATTATATAATTATATATT ATTTATTATATAATTATATAATTATATATTATTTATTATATAATTATATA TTATTTATTATATAATTATATATTATTTATTACATAAATATATATTATTT ATTACATAAGTATATATCACTTATTATATAATTGCATATAATTATTTATT ATATAATTGCATATAATTATTATATAATTGTATATAGTTATTTATTATAT AATTGTATATAGTTATTTATTATATAATTCTATATAAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRDM16_chr1_3064203_3443621	3181307	C C	CGGCCTTA others(659): Show CGGCCTTACGCATGGTCTTACACACGCAGTCTTACACACGGTCTTACACA CGCAATCTTACACAAGCAGTCTTACACACGGTCTTACACACACGGTCTTA CACACGCAGTCTTACGGTCTTACACACGGTCTTACACACACGGTCTTACA CACAGTCTTACACACGCAGTCTTACACACGCAGTCTTACACAAGCAGTCT TACACACGCGGTCTTACACAAGCAGTCTTACGGTCTTACACACAGTCTTA CACATGGCCTTACGCATGGTCTTACACACGCAGTCTTACACAAGCGGTCT TACACAAGCGGTCTTACACACGGTCTTACACACGGTCTTACACAGTCTTA CACATGCAGTCTTACACACGGTCTTACATATGGTCTTACACATGCAGTCT TACACACGGTCTTACACATGCAGTCTTACACACGGTCTTACACACGGTCT TACACAGTCTTACACGCGCAGTCTTACACACGGTCTTACACACGGTCTTA CACACGCAGTCTTACACACGGTCTTACACACGGAGTCTTACACACGGAGT CTTACACACAGTCTTACACATGCAGTCTTACACGCGGCCTTACACACGCA GTCTTACACGCGGTCTTACACACGCAGTCTTACACGCGGTCTTACGGTCT TACACACGCAGTCTTAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0098 a0001c0002t0008g0098	1	210	0.0048	666	c.38- others(681): Show c.38-4816_38-4815insCCTTACGCATGGTCTTACACACGCAGTCTT ACACACGGTCTTACACACGCAATCTTACACAAGCAGTCTTACACACGGTC TTACACACACGGTCTTACACACGCAGTCTTACGGTCTTACACACGGTCTT ACACACACGGTCTTACACACAGTCTTACACACGCAGTCTTACACACGCAG TCTTACACAAGCAGTCTTACACACGCGGTCTTACACAAGCAGTCTTACGG TCTTACACACAGTCTTACACATGGCCTTACGCATGGTCTTACACACGCAG TCTTACACAAGCGGTCTTACACAAGCGGTCTTACACACGGTCTTACACAC GGTCTTACACAGTCTTACACATGCAGTCTTACACACGGTCTTACATATGG TCTTACACATGCAGTCTTACACACGGTCTTACACATGCAGTCTTACACAC GGTCTTACACACGGTCTTACACAGTCTTACACGCGCAGTCTTACACACGG TCTTACACACGGTCTTACACACGCAGTCTTACACACGGTCTTACACACGG AGTCTTACACACGGAGTCTTACACACAGTCTTACACATGCAGTCTTACAC GCGGCCTTACACACGCAGTCTTACACGCGGTCTTACACACGCAGTCTTAC ACGCGGTCTTACGGTCTTACACACGCAGTCTTATGG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRR22_chr19_5777960_5789746	5787204	G G	GGTGGGAG others(659): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGACGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGCAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGACGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTG GGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCGTG GGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGACGGTGGGAGGTGGTG GGAGACGGCGGGAGGTGGTGGGAGGTGGTGGGAGACGGCGGGAGGTGGTG GGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGATGGTGGGAG ACGGTGGAGACGGCGGGAGGTGGAGGGAGGCGGCGGGAGATGGCGGGAGG TGGCAGGAGACGTGGGAGGTGGCAGGAGACGGTGGAGGTGGTGGTGGGAG GGGGAGGTGGGGAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	382	0.0026	666	c.-25 others(677): Show c.-2545_-2544insTGTCTCCCCACCTCCCCCTCCCACCACCACCTCC ACCGTCTCCTGCCACCTCCCACGTCTCCTGCCACCTCCCGCCATCTCCCG CCGCCTCCCTCCACCTCCCGCCGTCTCCACCGTCTCCCACCATCTCCGTC TCCCACCACTTCCCACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTC TCCCACCACCTCCCACCACCTCCCGCCGTCTCCCACCACCTCCCACCGTC TCCCACCGTCTCCCACCACCTCCCACCATCTCCCACGACCTCCCACCATC TGCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTTCTCCGTCTCCC ACCACTTCCCACCACCTCCCACCACCTCCCACCGTCTCCCACCACCTCCC GCCGTCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCACCATCTCCC ACCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCACCACATCCC ACCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACCACCTGCC ACCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCACCACCTCCC ACCGTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCACTGTCTCCC ACTACCTCCCACCATCTCCCACGACCTCCCAC	PRR22	ENSG00000212123.4	transcript	ENST00000419421.3	protein_coding		2459		chr19	TogoVar

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Search Results (Total: 10000 hits)