Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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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
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(858): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0089 a0001c0001t0027g0089	1	304	0.0033	865	c.66+ others(880): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(858): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	304	0.0033	865	c.66+ others(880): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(858): Show TGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC CTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCC CCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGACCCCTCT GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC ACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCC TGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGGGA GGGAGGCGCGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0029 a0005c0013t0029	a0005c0013t0029g0111 a0005c0013t0029g0111	1	204	0.0049	865	c.880 others(882): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCGCGCCTCCCTCCCGGACGGGG CGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTG ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTC ACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCAGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGA TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
SBNO2_chr19_1102638_1179268	1164823	G G	GGAGGAGG others(858): Show GGAGGAGGAGCAGGAGGAGGAGGAGGAGGAGAAACAGGTGCTAGGACACT GTGGGGACGTCCCAGATGCCGGGGCAGTGGAGACAGGAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGGAGGAGG AGGAGGAAGAGGAAGAACAGGAGGACGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACA GGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAACAGGTGCTAGGACACTGTGGGGACGTCCCAGATGCCAGGGG CAGTGGAGACAGGAGGAGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGG AGGAGGAGGAGGAGGAACAGGTGCTAAGACACTGTGGGGACGTCCCAGAT GCCAGGGGCAGTGGAGACAGCAGGAGGAGGAGGAAGAGGAGGAGAAGGAG GAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAATAGGA GGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACAGGAGG AGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAG GAGGAACAGGAGGAGGAGGAGGAGGAACAGCAGGAGGAGGAGGCACAGGA GGAGGAGGAGGAGGCACAGGAGGAGGAGGAGGAGGCACAGGAGGAGGAGG AGGAGGCACAGGAGGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03486.hp2 HG03579.hp1 others(1): Show HG02723.hp2 HG03486.hp2 HG03579.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0011 others(1): Show a0001c0001 a0001c0004 a0001c0011 a0001c0025	a0001c0001t0001 a0001c0004t0001 a0001c0011t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0001c0011t0001 a0001c0025t0001	a0001c0001t0001g0075 a0001c0004t0001g0074 a0001c0011t0001g0073 others(1): Show a0001c0001t0001g0075 a0001c0004t0001g0074 a0001c0011t0001g0073 a0001c0025t0001g0063	4	203	0.0197	865	c.-12 others(884): Show c.-127+9348_-127+9349insTCCTCCTGTGCCTCCTCCTCCTCCTC CTGTGCCTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTCCTCCTGTGCCT CCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTC CTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTATTCCT CCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTTCTCC TCCTCTTCCTCCTCCTCCTGCTGTCTCCACTGCCCCTGGCATCTGGGACG TCCCCACAGTGTCTTAGCACCTGTTCCTCCTCCTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCT CCTTCTCCTCCTCTTCCTCCTCCTCCTCCTGTCTCCACTGCCCCTGGCAT CTGGGACGTCCCCACAGTGTCCTAGCACCTGTTCCTCCTCCTCCTCCTGT TCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTC CTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGT TCCTCCTCCTCCTCGTCCTCCTGTTCTTCCTCTTCCTCCTCCTCCTCCTG TTCTTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCT CCTCCTGTCTCCACTGCCCCGGCATCTGGGACGTCCCCACAGTGTCCTAG CACCTGTTTCTCCTCCTCCTCCTCCTCCTGCTCCTCCTC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1164823	G G	GGAGGAGG others(858): Show GGAGGAGGAGCAGGAGGAGGAGGAGGAGGAGAAACAGGTGCTAGGACACT GTGGGGACGTCCCAGATGCCGGGGCAGTGGAGACAGGAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGGAGGAGG AGGAGGAAGAGGAAGAACAGGAGGACGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACA GGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAACAGGTGCTAGGACACTGTGGGGACGTCCCAGATGCCAGGGG CAGTGGAGACAGGAGGAGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGG AGGAGGAGGAGGAGGAACAGGTGCTAAGACACTGTGGGGACGTCCCAGAT GCCAGGGGCAGTGGAGACAGCAGGAGGAGGAGGAAGAGGAGGAGAAGGAG GAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAATA GGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACAGG AGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAG GAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGCAGGAGGAGGAGGCACA GGAGGAGGAGGAGGAGGCACAGGAGGAGGAGGAGGCACAGGAGGAGGAGG AGGAGGCACAGGAGGA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0107 a0001c0011t0001g0107	1	203	0.0049	865	c.-12 others(884): Show c.-127+9348_-127+9349insTCCTCCTGTGCCTCCTCCTCCTCCTC CTGTGCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTCCTCCTGTGCCTCCT CCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCC TCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTC CTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTATTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTTCTCC TCCTCTTCCTCCTCCTCCTGCTGTCTCCACTGCCCCTGGCATCTGGGACG TCCCCACAGTGTCTTAGCACCTGTTCCTCCTCCTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCT CCTTCTCCTCCTCTTCCTCCTCCTCCTCCTGTCTCCACTGCCCCTGGCAT CTGGGACGTCCCCACAGTGTCCTAGCACCTGTTCCTCCTCCTCCTCCTGT TCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTC CTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGT TCCTCCTCCTCCTCGTCCTCCTGTTCTTCCTCTTCCTCCTCCTCCTCCTG TTCTTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCT CCTCCTGTCTCCACTGCCCCGGCATCTGGGACGTCCCCACAGTGTCCTAG CACCTGTTTCTCCTCCTCCTCCTCCTCCTGCTCCTCCTC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SLAIN1_chr13_77692687_77769229	77703963	T T	TATGTTTT others(858): Show TATGTTTTATAAGTGTATATATACACATATAAAATATATATACATATGTT TTATAAGTGTATATATACACATAAAATATATATACATATGTTTTATATGT GTATATATACACATAAAATATATATACATATGTTTTATATGTGTATATAT ACACATATAAAATATATATACATATGTTTTATATGTGTATATATACACAT ATAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAAA TATATATACATATGTTTTATATGTGTATATATACACATATAAAATATATA TACATATGTTTTATATGTATATATACATATAAAATATATATACATATGTT TTATATGTATATATACATATAAAATATATATACATATGTTTTATATGTAT ATATATACATATAAAATATATATACATATAAAATATATACATATAAAATA TATATACATATGTTTTATATGTATATATACATATAAAACATATATACATA TGTTTTATATGTATATATACATATAAATATATATACATATGTTTTATATG TATATATATACATAGAAAATATATATACATATGTTTTATATGTATATATA TACATAGAAAATATATATACATGTTTTATATGTATATATATACATAGAAA ATATATATACATGTTTTATATGTATATATATACATAGAAAATATATATAC ATATGTTTTATATGTATATATATACATAGAAAATATATATACATATGTTT TATATGTATATATATACATAGAAAATATATATACATATGTTTTATATGTA TATATATACATAGAAAATATATATACATATGTTTTATATGTATATATACA TAGAAAATATATATAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp1 NA18946.hp2 others(1): Show HG02572.hp2 HG02717.hp1 NA18946.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 others(1): Show a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0278	4	300	0.0133	865	c.626 others(882): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATAAAATATATATACATAT GTTTTATATGTGTATATATACACATAAAATATATATACATATGTTTTATA TGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTA TATATACACATATAAAATATATATACATATGTTTTATATGTGTATATATA CACATATAAAATATATATACATATGTTTTATATGTGTATATATACACATA TAAAATATATATACATATGTTTTATATGTATATATACATATAAAATATAT ATACATATGTTTTATATGTATATATACATATAAAATATATATACATATGT TTTATATGTATATATATACATATAAAATATATATACATATAAAATATATA CATATAAAATATATATACATATGTTTTATATGTATATATACATATAAAAC ATATATACATATGTTTTATATGTATATATACATATAAATATATATACATA TGTTTTATATGTATATATATACATAGAAAATATATATACATATGTTTTAT ATGTATATATATACATAGAAAATATATATACATGTTTTATATGTATATAT ATACATAGAAAATATATATACATGTTTTATATGTATATATATACATAGAA AATATATATACATATGTTTTATATGTATATATATACATAGAAAATATATA TACATATGTTTTATATGTATATATATACATAGAAAATATATATACATATG TTTTATATGTATATATATACATAGAAAATATATATACATATGTTTTATAT GTATATATACATAGAAAATATATATACATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77703963	T T	TATGTTTT others(858): Show TATGTTTTATAAGTGTATATATACACATATAAAATATATATACATATGTT TTATAAGTGTATATATACACATAAAATATATATACATATGTTTTATATGT GTATATATACACATAAAATATATATACATATGTTTTATATGTGTATATAT ACACATATAAAATATATATACATATGTTTTATATGTGTATATATACACAT ATAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAAA TATATATACATATGTTTTATATGTGTATATATACACATATAAAATATATA TACATATGTTTTATATGTATATATACATATAAAATATATATACATATGTT TTATATGTATATATACATATAAAATATATATACATATGTTTTATATGTAT ATATATACATATAAAATATATATACATATAAAATATATACATATAAAATA TATATACATATGTTTTATATGTATATATACATATAAAACATATATACATA TGTTTTATATGTATATATACATATAAATATATATACATATGTTTTATATG TATATATATACATAGAAAATATATATACATATGTTTTATATGTATATATA TACATAGAAAATATATATACATGTTTTATATGTATATATATACATAGAAA ATATATATACATGTTTTATATGTATATATATACGTAGAAAATATATATAC ATATGTTTTATATGTATATATATACATAGAAAATATATATACATATGTTT TATATGTATATATATACATAGAAAATATATATACATATGTTTTATATGTA TATATATACATAGAAAATATATATACATATGTTTTATATGTATATATACA TAGAAAATATATATAC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0228 a0002c0002t0001g0228	1	300	0.0033	865	c.626 others(882): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATAAAATATATATACATAT GTTTTATATGTGTATATATACACATAAAATATATATACATATGTTTTATA TGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTA TATATACACATATAAAATATATATACATATGTTTTATATGTGTATATATA CACATATAAAATATATATACATATGTTTTATATGTGTATATATACACATA TAAAATATATATACATATGTTTTATATGTATATATACATATAAAATATAT ATACATATGTTTTATATGTATATATACATATAAAATATATATACATATGT TTTATATGTATATATATACATATAAAATATATATACATATAAAATATATA CATATAAAATATATATACATATGTTTTATATGTATATATACATATAAAAC ATATATACATATGTTTTATATGTATATATACATATAAATATATATACATA TGTTTTATATGTATATATATACATAGAAAATATATATACATATGTTTTAT ATGTATATATATACATAGAAAATATATATACATGTTTTATATGTATATAT ATACATAGAAAATATATATACATGTTTTATATGTATATATATACGTAGAA AATATATATACATATGTTTTATATGTATATATATACATAGAAAATATATA TACATATGTTTTATATGTATATATATACATAGAAAATATATATACATATG TTTTATATGTATATATATACATAGAAAATATATATACATATGTTTTATAT GTATATATACATAGAAAATATATATACATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77703963	T T	TATGTTTT others(858): Show TATGTTTTATAAGTGTATATATACACATATAAAATATATATACATATGTT TTATAAGTGTATATATACACATAAAATATATATACATATGTTTTATATGT GTATATATACACATAAAATATATATACATATGTTTTATATGTGTATATAT ACACATATAAAATATATATACATATGTTTTATATGTGTATATATACACAT ATAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAAA TATATATACATATGTTTTATATGTGTATATATACACATATAAAATATATA TACATATGTTTTATATGTATATATACATATAAAATATATATACATATGTT TTATATGTATATATACATATAAAATATATATACATATGTTTTATATGTAT ATATATACATATAAAATATATATACATATAAAATATATACATATAAAATA TATATACATATGTTTTATATGTATATATACATATAAATATATATACATAT GTTTTATATGTATATATATACATAGAAAATATATATACATATGTTTTATA TGTATATATATACATAGAAAATATATATACATGTTTTATATGTATATATA TACATAGAAAATATATATACATGTTTTATATGTATATATATACATAGAAA ATATATATACATATGTTTTATATGTATATATATACATAGAAAATATATAT ACATACGTTTTATATGTATATATATACATAGAAAATATATATACATATGT TTTATATGTATATATATACATAGAAAATATATATACATATGTTTTATATG TATATATACATAGAAAATATATATACATGTTTTATATGTATATATATACA TAGAAAATATATATAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03831.hp1 HG04184.hp1 HG00558.hp1 HG03831.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0253 a0001c0001t0002g0249 a0001c0001t0002g0277 a0001c0001t0001g0253 a0001c0001t0002g0249 a0001c0001t0002g0277	3	300	0.0100	865	c.626 others(882): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATAAAATATATATACATAT GTTTTATATGTGTATATATACACATAAAATATATATACATATGTTTTATA TGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTA TATATACACATATAAAATATATATACATATGTTTTATATGTGTATATATA CACATATAAAATATATATACATATGTTTTATATGTGTATATATACACATA TAAAATATATATACATATGTTTTATATGTATATATACATATAAAATATAT ATACATATGTTTTATATGTATATATACATATAAAATATATATACATATGT TTTATATGTATATATATACATATAAAATATATATACATATAAAATATATA CATATAAAATATATATACATATGTTTTATATGTATATATACATATAAATA TATATACATATGTTTTATATGTATATATATACATAGAAAATATATATACA TATGTTTTATATGTATATATATACATAGAAAATATATATACATGTTTTAT ATGTATATATATACATAGAAAATATATATACATGTTTTATATGTATATAT ATACATAGAAAATATATATACATATGTTTTATATGTATATATATACATAG AAAATATATATACATACGTTTTATATGTATATATATACATAGAAAATATA TATACATATGTTTTATATGTATATATATACATAGAAAATATATATACATA TGTTTTATATGTATATATACATAGAAAATATATATACATGTTTTATATGT ATATATATACATAGAAAATATATATACATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77703963	T T	TATGTTTT others(858): Show TATGTTTTATAAGTGTATATATACACATATAAAATATATATACATATGTT TTATAAGTGTATATATACACATAAAATATATATACATATGTTTTATATGT GTATATATACACATAAAATATATATACATATGTTTTATATGTGTATATAT ACACATATAAAATATATATACATATGTTTTATATGTGTATATATACACAT ATAAAATGTATATACATATGTTTTATATGTGTATATATACACATATAAAA TATATATACATATGTTTTATATGTGTATATATACACATATAAAATATATA TACATATGTTTTATATGTATATATACATATAAAATATATATACATATGTT TTATATGTATATATACATATAAAATATATATACATATGTTTTATATGTAT ATATATACATATAAAATATATATACATATAAAATATATACATATAAAATA TATATACATATGTTTTATATGTATATATACATATAAATATATATACATAT GTTTTATATGTATATATATACATAGAAAATATATATACATATGTTTTATA TGTATATATATACATAGAAAATATATATACATGTTTTATATGTATATATA TACATAGAAAATATATATACATGTTTTATATGTATATATATACATAGAAA ATATATATACATATGTTTTATATGTATATATATACATAGAAAATATATAT ACATACGTTTTATATGTATATATATACATAGAAAATATATATACATATGT TTTATATGTATATATATACATAGAAAATATATATACATATGTTTTATATG TATATATACATAGAAAATATATATACATGTTTTATATGTATATATATACA TAGAAAATATATATAC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0272 a0001c0001t0002g0272	1	300	0.0033	865	c.626 others(882): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATAAAATATATATACATAT GTTTTATATGTGTATATATACACATAAAATATATATACATATGTTTTATA TGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTA TATATACACATATAAAATGTATATACATATGTTTTATATGTGTATATATA CACATATAAAATATATATACATATGTTTTATATGTGTATATATACACATA TAAAATATATATACATATGTTTTATATGTATATATACATATAAAATATAT ATACATATGTTTTATATGTATATATACATATAAAATATATATACATATGT TTTATATGTATATATATACATATAAAATATATATACATATAAAATATATA CATATAAAATATATATACATATGTTTTATATGTATATATACATATAAATA TATATACATATGTTTTATATGTATATATATACATAGAAAATATATATACA TATGTTTTATATGTATATATATACATAGAAAATATATATACATGTTTTAT ATGTATATATATACATAGAAAATATATATACATGTTTTATATGTATATAT ATACATAGAAAATATATATACATATGTTTTATATGTATATATATACATAG AAAATATATATACATACGTTTTATATGTATATATATACATAGAAAATATA TATACATATGTTTTATATGTATATATATACATAGAAAATATATATACATA TGTTTTATATGTATATATACATAGAAAATATATATACATGTTTTATATGT ATATATATACATAGAAAATATATATACATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC12A7_chr5_1045384_1117063	1098278	C C	CTAACCCT others(858): Show CTAACCCTCTGCTCACCAAGCCCCCTTCTAACCCTCTGCACACCCAGCCC CCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCACGCCCA GCCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCTCG CCCAGCCCCCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTG CACACCCAGCCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCC TCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACGCCCAGGCCCCCTCTA ACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCT TCTAACCCTCTGCACGCCCAGGCCCCCTCTAACCCTCTGCACGCCCAGCC CCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACGCCC AGGCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCAC GCCCAGCCCCCCTCTAACCCTCTGCTCGCCCAGCCCCCCTCTAACCTTCT GCACACCCAGCCCCCCTCTAACCCTCTGCACGCCCAGGCCCCCTCTAACC CTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCT AACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCC CTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGC CCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACC CAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCT CACCCAGCCCCCCTCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	118	0.0085	865	c.125 others(882): Show c.125-4031_125-4030insAGAGGGGGGCTGGGTGAGCAGAGGGTTA GAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGG GTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCA GAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTG TGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGGCTG GGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGG CCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAAGGTTAGAG GGGGGCTGGGCGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTT AGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGCCTGGGCGTGCAGAG GGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGC AGAGGGTTAGAGGGGGCCTGGGCGTGCAGAGGGTTAGAAGGGGGCTGGGT GAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGCCT GGGCGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGG GGCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGA GGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGCGAGCAGAGGGT TAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGA GGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGTGTG CAGAGGGTTAGAAGGGGGCTTGGTGAGCAGAGGGTTA	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC38A10_chr17_81239811_81300307	81249340	G G	GAGGATGA others(858): Show GAGGATGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAGAAGGA AGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGAAGGGAGAAGGAGG GAGGCAAGAGGAGGGAGAAGGAGGGAGAAGGAGGGAGGAGGAGGGAGAAG GAGGGAGAAGGAGGGAAGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGGA GAAGGAGGGAGAAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGA GGGAGGCAAGAGGAGGGAGAAGGAGGGAGAAGGAGGGAGGAGGAGGGAGA AGGAGGGAGGGAAGAGGAGGGAGGAGGGAGGGAAGAGGAGGGAGAAGGAG GGAGGGAAGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGGAGAAGGAGGG AGAAGGAGGGAGAAGGAGGGAGAAGGGAGGAGGAGGGAGAAGGAGGGAGG GAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGA AGAGGAGGGAGAAGGAGGGAGGGAGGAGGGAGGGAAGAGGAGGGAGAAAG AGGGAGGGAAGAGGAGGGAAAAGGAGGGAGGGAAGAGGAGGGAGGAGGAG GGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGG AGGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAA GAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGA GGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGG AAGGAGAAGGAGGGAGGGAGGAGGGAGGGAAGAGGAGGGAGAAAGAGGGA GGGAAGAGGAGGGAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03139.hp2 HG02280.hp1 HG03139.hp2	a0001 a0001	a0001c0005 a0001c0037 a0001c0005 a0001c0037	a0001c0005t0005 a0001c0037t0001 a0001c0005t0005 a0001c0037t0001	a0001c0005t0005g0164 a0001c0037t0001g0056 a0001c0005t0005g0164 a0001c0037t0001g0056	2	214	0.0094	865	c.206 others(884): Show c.2065+2152_2065+2153insTTTCCCTCCTCTTCCCTCCCTCTTTC TCCCTCCTCTTCCCTCCCTCCTCCCTCCCTCCTTCTCCTTCCTCTTCCCT CCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCC CTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCT CCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCCTCCCTCCTCTT CCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCCTCC CTCCTCTTCCCTCCCTCCTTTTCCCTCCTCTTCCCTCCCTCTTTCTCCCT CCTCTTCCCTCCCTCCTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTC CTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCT TCTCCCTCCTCCTCCCTTCTCCCTCCTTCTCCCTCCTTCTCCCTCCTTCT CCCTCCTCTTGCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCC CTCCTCTTCCCTCCCTCCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCT CCTCCCTCCTTCTCCCTCCTTCTCCCTCCTCTTGCCTCCCTCCTTCTCCC TCCTCTTCCCTCCCTCCTTCTCCCTCCTTCTCCCTCCTTCTCCCTCCTCT TGCCTCCCTCCTTCTCCCTCCTCTTCCCTCCTTCTCCCTCCTTCTCCCTC CTCCTCCCTCCTTCTCCCTCCTTCTCCCTCCTCTTGCCTCCCTCCTTCTC CCTTCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCTTCCTTCTCCC TCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCATCCT	SLC38A10	ENSG00000157637.13	transcript	ENST00000374759.8	protein_coding	14/15			chr17	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(858): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAG GAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGA GGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGG AAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGA AGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGG GGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGG GAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGG GAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGA AGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	322	0.0031	865	c.597 others(882): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTT CCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCT TCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTC CCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTC CCTCCCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCC TCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCC CTCTTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTT TCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCC CTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCT TCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTC CTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(858): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAG GAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGA GGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGG GAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGA AGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGG GGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGG GAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGG GAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGA AGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA19007.hp1 HG00408.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0155 a0001c0001t0001g0156	2	322	0.0062	865	c.597 others(882): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTT CCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCT TCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCC TCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTC CCTCCCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCC TCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCC CTCTTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTT TCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCC CTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCT TCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTC CTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
THEG_chr19_356747_381026	377080	C C	CCTGTGCC others(858): Show CCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCCACCCAGC CTCTCCCCCTCTGTGCCCCATCCAGCCTCTCCCCCCCCGTGCCCCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACC CAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCC ACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCC CCACCCAGCCTCTCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCTCTGT GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCC GTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCC TCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCCCCGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAG CCTCTCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCC AGCCTCTCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCA CCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0183 a0001c0001t0008g0183	1	370	0.0027	865	c.-11 others(876): Show c.-1111_-1110insAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACAGGGGGG AGAGGCTGGGTGGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGA GGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGAGAGGCTGGGTGGGG CACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGG GGCACAGAGGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGAGAGGCTGGG TGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTG GGTGGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGG CTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGA GGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGA GAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACGGGGGG GGAGAGGCTGGATGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACGGG GGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGG CACAGAGGGGGAGAGGCTGGGTGGGGCACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1055		chr19	TogoVar
TWIST2_chr2_238843085_238915534	238870213	C C	CACACACA others(858): Show CACACACACCACACAAACCACACACCCTACACACCCCACACACACCACAC ACCACACACACCCCACACACACCACACCCCACACACACCACACACCCCCC ACACACACCACACCCCATACACACCACACCCCACACACACCACACCCCAT ACACACCACACACCCCACACACACCACACACCCCACACACACCACACCCC ATACACACCACACCCCCCACACACCACACACCCCACACACACCACACCCC ACACACACCACACACACACCACACCCCACACACACCACACACCCCCCACA CACACCACACCCCATACACACCACACCCCACACACACCACACCCCACACA CACCACACACCCCACACACACCACACACCCCACACACACCACACCCCACA CACACCACACCCCATACACACCACACCCCACACACACCACACCCCATACA CACCACACCCCACACACACCACACCCCATACACACCACACCCCACACACA CCACACACCCCACACACACCACACCCCACACACACCACACCCCATACACA CCACACCCCACACACACCACACACCCCACACACACCACACCCCATACACA CCACACCCCACACACACCACACCCCACACACACCACACACCCCACACACA CCACACACCCCACACACACCACACCCCACACACACCACACACCCCACACA CACCACACAAACCACACACACCACACACCCCACACACACCACACAAACCA CACACACCACACACCCCACACACACCACACACCCCACACACACCACACAC CCCACACACACCACACAAACCACACACACCACACACCCCACACACACCAC ACACACACATCACATA	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18948.hp1 HG02080.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0023 a0001c0001t0002g0063 a0001c0001t0001g0023 a0001c0001t0002g0063	2	338	0.0059	865	c.35 others(884): Show c.35+21480_*35+21481insACACACACCACACAAACCACACACCC TACACACCCCACACACACCACACACCACACACACCCCACACACACCACAC CCCACACACACCACACACCCCCCACACACACCACACCCCATACACACCAC ACCCCACACACACCACACCCCATACACACCACACACCCCACACACACCAC ACACCCCACACACACCACACCCCATACACACCACACCCCCCACACACCAC ACACCCCACACACACCACACCCCACACACACCACACACACACCACACCCC ACACACACCACACACCCCCCACACACACCACACCCCATACACACCACACC CCACACACACCACACCCCACACACACCACACACCCCACACACACCACACA CCCCACACACACCACACCCCACACACACCACACCCCATACACACCACACC CCACACACACCACACCCCATACACACCACACCCCACACACACCACACCCC ATACACACCACACCCCACACACACCACACACCCCACACACACCACACCCC ACACACACCACACCCCATACACACCACACCCCACACACACCACACACCCC ACACACACCACACCCCATACACACCACACCCCACACACACCACACCCCAC ACACACCACACACCCCACACACACCACACACCCCACACACACCACACCCC ACACACACCACACACCCCACACACACCACACAAACCACACACACCACACA CCCCACACACACCACACAAACCACACACACCACACACCCCACACACACCA CACACCCCACACACACCACACACCCCACACACACCACACAAACCACACAC ACCACACACCCCACACACACCACACACACACATCACATA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
ULK1_chr12_131889622_131928150	131917167	C C	CGGAGGCT others(858): Show CGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTTGGAGGCTGTGGGACGGG GGTCGGGTGGGGCTTGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGA GGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTC GGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCT GTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGT TCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTTGGAGGCTGTGG GACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGG CTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCG GAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGG TCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGG CTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGG GTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGG GGCTTGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGA TGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCT CGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGG GGTCGGGTGGGGCTCG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0096 a0001c0002t0001g0096	1	344	0.0029	865	c.218 others(882): Show c.2182+106_2182+107insGAGGCTGTGGGACGGGGGTCGGGTTCGG CTTGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGATG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCG GAGGCTGTGGGATGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGG TCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGG CTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGG GTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGT GGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTC GGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGA TGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCT CGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGG GGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGA GGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTC GGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCT GTGGGATGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGT GGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGG GACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGG CTTGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABR_chr17_998519_1184981	1173311	C C	CCACACAT others(859): Show CCACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCC ACACGTCACCTCAGTCCACCCCCCCGACATCACCTCAGCCCACCCCCCCC ACACATCACCTCAGTCCACCCAACACATCACCTCAGCCCACCCAACACGT CACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTC AGTCCACCCCCCGCCCCATCACCTCAGCCCACCCAACACATCACCTCAGC CCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCC CCCACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCC CACACGTCACCTCAGTCCACCCCCCCGACATCACCTCAGCCCACCCCCCC CACACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACA TCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCGCCCCATCA CCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAG TCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACT CAACACATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCCCCCC ATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCCCATCACC TCAGCCCACCCAACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCC CACCCAACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCA ACACATCACCTCAGTCCACTCAACACATCACCTCAGCCCACCCCCCCCAT CACCTCAGCCCACCCAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0052 a0001c0003t0052	a0001c0003t0052g0220 a0001c0003t0052g0220	1	337	0.0030	866	c.61+ others(881): Show c.61+6355_61+6356insTTGGGTGGGCTGAGGTGATGGGGGGGGTGG GCTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAG GTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATG GGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGG GTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGC TGAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGT GATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGACTGAGGTGATGTG TTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGGGGCGGGG GGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGG CTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGGGGGTGGGCT GAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGA GGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGG TGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGT GTTGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTT GGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGACGTGTTGGGTGG GCTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTGGGGGGGGTGGGC TGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTG AGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ADCK5_chr8_144369047_144398242	144380654	C C	CAGGATTA others(859): Show CAGGATTATGGGCTGGGTGTAGAAAACAGATGTGTGCTCAGGCGCCTGCT GCACTCAGGATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACC TCCCGCAGTCAGGATTATGGGCCGGGCGTAGAAACAGATGTGTGCTCAGG CACCTCCCGCAGTCAGAATTATGGGCCGGGTGTAGAAACAGATGTGTGCT CAGGCACCTGCTGCACTAAGGATTATAAGCCGGGTGTAGAAACAGATGTG TGCTCAGGCACCTGCGGCACTCAGCATTATGGGCGGGGTGTAGAAACAGA TGTGTGCTCAGACGCCTCCCGCACTCAGGATTATGGGCCGGGTGCAGAAA CAGATGTGTGCTCAGGCACCTGCCGCACTCAGGATTATGGGCCGGGTGTA GAAAGAGATGTGTGCTCAGGCGCCTCCCGCAGTCAGGATTATGGGCCGGG TGTAGAAACAGATGTGTGCTCAGGCACCTGCCGCACTAAGGATTATGGGC TGGGTGTAGAAACAGATGTGTGCCTCAGGCACCTCCCGCAGTCAGGATTA TGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCTGCACTAAGG ATTATGGGCTGGGGGTAGAAACTGATGTGTGCTCAGGCACCTGCTGCACT CAGGATTATGGGCTGGGTGTAGAAGCAGATGTGTGCTCAGGCACCTGCCC CACTAAGGATTATGGGCTGGGTGTAGAAACAGATGTGTGCTCAGGCACCT GCTGCACTCAGGATTATGGGCTGGGTGTAGAAGCAGATGTGTGCTCAGGC ACCTGCCCCACTAAGGATTATGGGCTGGGTGTAGAAACAGATGTGTGCTC AGGCACCTGCCGCACTA	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0120 a0002c0002t0001g0120	1	346	0.0029	866	c.116 others(883): Show c.116+1188_116+1189insACAGATGTGTGCTCAGGCGCCTGCTGCA CTCAGGATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTCC CGCAGTCAGGATTATGGGCCGGGCGTAGAAACAGATGTGTGCTCAGGCAC CTCCCGCAGTCAGAATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAG GCACCTGCTGCACTAAGGATTATAAGCCGGGTGTAGAAACAGATGTGTGC TCAGGCACCTGCGGCACTCAGCATTATGGGCGGGGTGTAGAAACAGATGT GTGCTCAGACGCCTCCCGCACTCAGGATTATGGGCCGGGTGCAGAAACAG ATGTGTGCTCAGGCACCTGCCGCACTCAGGATTATGGGCCGGGTGTAGAA AGAGATGTGTGCTCAGGCGCCTCCCGCAGTCAGGATTATGGGCCGGGTGT AGAAACAGATGTGTGCTCAGGCACCTGCCGCACTAAGGATTATGGGCTGG GTGTAGAAACAGATGTGTGCCTCAGGCACCTCCCGCAGTCAGGATTATGG GCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCTGCACTAAGGATT ATGGGCTGGGGGTAGAAACTGATGTGTGCTCAGGCACCTGCTGCACTCAG GATTATGGGCTGGGTGTAGAAGCAGATGTGTGCTCAGGCACCTGCCCCAC TAAGGATTATGGGCTGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCT GCACTCAGGATTATGGGCTGGGTGTAGAAGCAGATGTGTGCTCAGGCACC TGCCCCACTAAGGATTATGGGCTGGGTGTAGAAACAGATGTGTGCTCAGG CACCTGCCGCACTAAGGATTATGGGCTGGGTGTAGAAA	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(859): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAG ATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAA AAATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGT GGCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGC TATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAA TGATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCT CACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCT GAGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTC TACTAAAATACAAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGT AGTCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACC CAGGAGGCTGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCC TGGTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTTAAAAA AAAAAAAAAAAATACATATATATATATATATATATATATATATATATATA TTTAAAATTCCTTGTAAAAAGTGGCTGGGCGTGGTGGCCCACACCTGTAA TCCCAGCACTTTGGGAGGCCAAAGGAGGCCAATCACTTGAGGTCAGGAGT TCAAGACCAGCCTGGCC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	336	0.0030	866	c.94+ others(881): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATATATATATATATATATATATGTATTTTTTTTTTTTTTTTTAAATATAT ATTCTTTTTTTTTAAACGGAGTCTCACTCTGTTACCAGGCTGGAGTGCAG TGGCACCATCTCGGCTCACTGCAACCTCAGCCTCCTGGGTTCAAGCAATT CTGCCTCAGGAGGGAGAGGCAGGGACTAGGTGGGACTACAGGCACACGCC TGGCTAATTTTTTTTTTTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTC ACCATGTTGCCCAGGCTGGTCTCCAACTCTTGAGCTCAGGGAAGTCTGCC CGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCC AGCCGATAAATATATTTTTAAAGTAGCAAACCAATCATTATGGGAAAGAA TCGGTAATTTGGTTGACTTCTGCACCGTTATTTTATAGCTAAGTATTGTA TTTATTTTTGTTTCCACATGGGAGAGAGGCACCAGCCACTATTCACTGTT CAGGGTTTCTTTTTCTTTTCTTTTTTCTTTTTTATTTTTGAGACAGTGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGTTCACTGC AAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTTT TTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(859): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTA GTCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCC AGGAGGCTGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCT GGTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTTAAAAAA AAAAAAAAAATACATATATATATATATATATATATATATATATATATATA TTTAAAATTCCTTGTAAAAAGTGGCTGGGCGTGGTGGCCCACACCTGTAA TCCCAGCACTTTGGGAGGCCAAAGGAGGCCAATCACTTGAGGTCAGGAGT TCAAGACCAGCCTGGCC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	336	0.0030	866	c.94+ others(881): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATATATATATATATATATATATATGTATTTTTTTTTTTTTTTTAAATATA TATTCTTTTTTTTTAAACGGAGTCTCACTCTGTTACCAGGCTGGAGTGCA GTGGCACCATCTCGGCTCACTGCAACCTCAGCCTCCTGGGTTCAAGCAAT TCTGCCTCAGGAGGGAGAGGCAGGGACTAGGTGGGACTACAGGCACACGC CTGGCTAATTTTTTTTTTTTTTTTTTTGTATTTTAGTAGAGACGGGGTTT CACCATGTTGCCCAGGCTGGTCTCCAACTCTTGAGCTCAGGGAAGTCTGC CCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCC CAGCCGATAAATATATTTTTAAAGTAGCAAACCAATCATTATGGGAAAGA ATCGGTAATTTGGTTGACTTCTGCACCGTTATTTTATAGCTAAGTATTGT ATTTATTTTTGTTTCCACATGGGAGAGAGGCACCAGCCACTATTCACTGT TCAGGGTTTCTTTTTCTTTTCTTTTTTCTTTTTTATTTTTGAGACAGTGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGTTCACTG CAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTTTTTT TTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(859): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTA GTCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCC AGGAGGCTGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCT GGTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTTAAAAAA AAAAAAAAAAAATACATATATATATATATATATATATATATATATATATA TTTAAAATTCCTTGTAAAAAGTGGCTGGGCGTGGTGGCCCACACCTGTAA TCCCAGCACTTTGGGAGGCCAAAGGAGGCCAATCACTTGAGGTCAGGAGT TCAAGACCAGCCTGGCC	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	336	0.0030	866	c.94+ others(881): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATATATATATATATATATATATGTATTTTTTTTTTTTTTTTTTAAATATA TATTCTTTTTTTTTAAACGGAGTCTCACTCTGTTACCAGGCTGGAGTGCA GTGGCACCATCTCGGCTCACTGCAACCTCAGCCTCCTGGGTTCAAGCAAT TCTGCCTCAGGAGGGAGAGGCAGGGACTAGGTGGGACTACAGGCACACGC CTGGCTAATTTTTTTTTTTTTTTTTTTGTATTTTAGTAGAGACGGGGTTT CACCATGTTGCCCAGGCTGGTCTCCAACTCTTGAGCTCAGGGAAGTCTGC CCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCC CAGCCGATAAATATATTTTTAAAGTAGCAAACCAATCATTATGGGAAAGA ATCGGTAATTTGGTTGACTTCTGCACCGTTATTTTATAGCTAAGTATTGT ATTTATTTTTGTTTCCACATGGGAGAGAGGCACCAGCCACTATTCACTGT TCAGGGTTTCTTTTTCTTTTCTTTTTTCTTTTTTATTTTTGAGACAGTGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGTTCACTG CAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTT TTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(859): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTA GTCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCC AGGAGGCTGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCT GGTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTTAAAAAA AAAAAAAAAATACATATATATATATATATATATATATATATATATATATA TTTAAAATTCCTTGTAAAAAGTGGCTGGGCGTGGTGGCCCACACCTGTAA TCCCAGCACTTTGGGAGGCCAAAGGAGGCCAATCACTTGAGGTCAGGAGT TCAAGACCAGCCTGGCC	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA19079.hp1 NA18963.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0135 a0001c0001t0001g0136	2	336	0.0060	866	c.94+ others(881): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATATATATATATATATATATATATGTATTTTTTTTTTTTTTTTAAATATA TATTCTTTTTTTTTAAACGGAGTCTCACTCTGTTACCAGGCTGGAGTGCA GTGGCACCATCTCGGCTCACTGCAACCTCAGCCTCCTGGGTTCAAGCAAT TCTGCCTCAGGAGGGAGAGGCAGGGACTAGGTGGGACTACAGGCACACGC CTGGCTAATTTTTTTTTTTTTTTTTTTGTATTTTAGTAGAGACGGGGTTT CACCATGTTGCCCAGGCTGGTCTCCAACTCTTGAGCTCAGGGAAGTCTGC CCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCC CAGCCGATAAATATATTTTTAAAGTAGCAAACCAATCATTATGGGAAAGA ATCGGTAATTTGGTTGACTTCTGCACCGTTATTTTATAGCTAAGTATTGT ATTTATTTTTGTTTCCACATGGGAGAGAGGCACCAGCCACTATTCACTGT TCAGGGTTTCTTTTTCTTTTCTTTTTTCTTTTTTATTTTTGAGACAGTGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGTTCACTG CAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTT TTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
C10orf67_chr10_23197696_23349797	23331548	A A	AGGGAAGG others(859): Show AGGGAAGGGAAAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAACCGGG ACGGGAAAAGGGAAGGGAAGGGAACCGGGACGGGAAAAGGGAAGGGAAGG GAACCGGGACGGGAAAAGGGAAGGGAAGGGAACCGGGACGGGAAAAGGGA AGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAACCAGGACAG GAACCGGGACAGGAACCGGGAAGGGAAGGGATGGGAACCGATGGGAACCG GGATGGCAACCAGGAAGGGAAGGGACCGGGACGGGAAGGGAAGGAAACCG GGACGGCAACAGAGACAGGAACCGGGAAGGGAAAAGAAGGGAAGAGAACC GGGAAGGGAAGGGAACCGGGACAGGAACCGGGAAGGGAAGGGAAGAGAAC AGGGAAGGGAGGGTAGGGGAGGGAAACCGGGAAGGAAGAGGAAGGGGAGG GGAGACCGGGACGGGAACTGGGACGGGAAGGGTAGGGAACCGGGCGGGAA CCGGGACGGGAGGGGAAGGGAATGGGGACGAGAAACGGGACGGGAACCAG GACAGGAACCAGAACGGAAACAGGGAAGGGAAGGGAAGGGAACAGGGACA GGAATCGGGAAGGGAACCGGGACAGGAACCGGAAAGGGAAGGGAACCAGG AAAGGAAAGGAAGGCAAGCGGGACGGGAGCCGGGAAGGCAAGAGAAGGGA ACCGGGAAGAGTAAGGAGGAAAACCGGGACGGGAACAGGACGGGAACCGG GAAGGGCAGGGAACCGGGACAGGAACAGGACGGGAACCGGGAAGGGCAGG GAACCGGGACAGGAACAGGACGGGAACCGGGAAGGGCAGGGAACCGGCAC AGGAAGGAAAGGGAACC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01243.hp2 HG01123.hp1 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0319 a0001c0001t0001g0312 a0001c0001t0001g0319	2	326	0.0061	866	c.327 others(883): Show c.327+1513_327+1514insGGTTCCCTTTCCTTCCTGTGCCGGTTCC CTGCCCTTCCCGGTTCCCGTCCTGTTCCTGTCCCGGTTCCCTGCCCTTCC CGGTTCCCGTCCTGTTCCTGTCCCGGTTCCCTGCCCTTCCCGGTTCCCGT CCTGTTCCCGTCCCGGTTTTCCTCCTTACTCTTCCCGGTTCCCTTCTCTT GCCTTCCCGGCTCCCGTCCCGCTTGCCTTCCTTTCCTTTCCTGGTTCCCT TCCCTTTCCGGTTCCTGTCCCGGTTCCCTTCCCGATTCCTGTCCCTGTTC CCTTCCCTTCCCTTCCCTGTTTCCGTTCTGGTTCCTGTCCTGGTTCCCGT CCCGTTTCTCGTCCCCATTCCCTTCCCCTCCCGTCCCGGTTCCCGCCCGG TTCCCTACCCTTCCCGTCCCAGTTCCCGTCCCGGTCTCCCCTCCCCTTCC TCTTCCTTCCCGGTTTCCCTCCCCTACCCTCCCTTCCCTGTTCTCTTCCC TTCCCTTCCCGGTTCCTGTCCCGGTTCCCTTCCCTTCCCGGTTCTCTTCC CTTCTTTTCCCTTCCCGGTTCCTGTCTCTGTTGCCGTCCCGGTTTCCTTC CCTTCCCGTCCCGGTCCCTTCCCTTCCTGGTTGCCATCCCGGTTCCCATC GGTTCCCATCCCTTCCCTTCCCGGTTCCTGTCCCGGTTCCTGTCCTGGTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTTTCCC GTCCCGGTTCCCTTCCCTTCCCTTTTCCCGTCCCGGTTCCCTTCCCTTCC CTTTTCCCGTCCCGGTTCCCTTCCCTTCCCTTTTCCCGTCCCGGTTCCCT TCCCTTCCCTTTTCCCTTCCCTTCCCTTTTCCCTTCCC	C10orf67	ENSG00000179133.15	transcript	ENST00000636213.3	protein_coding	2/15			chr10	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(859): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGAGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGGCAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAGG GGGCAGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGAGGAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAGGAGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAGGGGAAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAGGGGGC AGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGAGGAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAGGGGAAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0004 a0004	a0004c0022 a0004c0022	a0004c0022t0001 a0004c0022t0001	a0004c0022t0001g0100 a0004c0022t0001g0100	1	344	0.0029	866	c.85- others(883): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTT CCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCC CCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTCCTCCTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCT CCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCCT TCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTCCTCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCTCCTC CCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCCT GCCTGCCCCCTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCTCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT CCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL5A1_chr9_134636803_134849843	134685430	C C	CCATCCAT others(859): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCACCAT CCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATCCAT CCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCATCCACCAT CCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCCATGC ATCCGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCTGTCC ATCCATCCATCCATCCATCCACCATCCATTCACCCATCCATCCATTCATC CATCCATCCACCATCCATCCATTAATTCATCCATCCATCCATCCATTCAT CCACCATCCATCCACCATCCATCCATCCATCCATCCACCATCCATCCATC CACCATCCATCCATTCATCCATCCATCTGTCCATCCATCCATCCATCCGT CCATCCACCATCCATTCACCCATCCATCCATTCATCCATCCATCCACCAT CCATCCATTAATTCATCCATCCATCCATCCATCCATCCATTCATCCATCC ACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCA TACATCCATCATCCTCCCATTCATCCATCCATCCACCATCCATCCATTCA TTCATCCATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCC ATCCATCCACCATCCATCCATCCAGCATCCATCCATCCATCTATTCATCC ATCCATCCATCCATCCGTCCATCCATCCATCCATCCTCCATCCATCCATC CATCCATCAACCATCCATCCATGCATCCATTCATCCATCCACCATCCATC CACCATCCATCCACCAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0006 a0001c0033t0006	a0001c0033t0006g0190 a0001c0033t0006g0190	1	272	0.0037	866	c.110 others(883): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCA TTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCC ATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATC CATCCATGCATCCGTCATCCATCCACCATCCATCCATTCATTCATCCATC CATCTGTCCATCCATCCATCCATCCATCCACCATCCATTCACCCATCCAT CCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCATCCATCCA TCCATTCATCCACCATCCATCCACCATCCATCCATCCATCCATCCACCAT CCATCCATCCACCATCCATCCATTCATCCATCCATCTGTCCATCCATCCA TCCATCCGTCCATCCACCATCCATTCACCCATCCATCCATTCATCCATCC ATCCACCATCCATCCATTAATTCATCCATCCATCCATCCATCCATCCATT CATCCATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCC ATCCATTCATACATCCATCATCCTCCCATTCATCCATCCATCCACCATCC ATCCATTCATTCATCCATCCATCCATCCATCCATCCATCCATCCACCATC CATCCACCCATCCATCCACCATCCATCCATCCAGCATCCATCCATCCATC TATTCATCCATCCATCCATCCATCCGTCCATCCATCCATCCATCCTCCAT CCATCCATCCATCCATCAACCATCCATCCATGCATCCATTCATCCATCCA CCATCCATCCACCATCCATCCACCATCATCCATCCATT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CYLC1_chrX_83856146_83891698	83878226	T T	TATATATA others(859): Show TATATATATAAATATATATAAATATATATAAAAATATATATAAATTTATA TAATATATATATAAAAATATATATTATATATATTATATATATAAATATAT ATATAAAAATATATATTATATATATTATATATATAAATATATATATAAAA ATATATATTATATATATTATATATATAAATATATATATAAAAATATATAT TATATATATTATATATATAAATATATATATAAAAATATATATTATATATA TTATATATATAAATATATATATATAAATATATATTATATATATTATATAT ATAAATATATATATAAATATATATTATATATATTATATATAATATATATA TAAAATATATATAAATATATATAAATATATATAAAATATATAAATATATA TAAAAATATATATAAAATATATAAATATATATAAAAATATATATATAAAT ATATATATAAAAATATATATAAAAATATGTATATAATATATATATGAAAA TATATATAAAAATATATATATAAATATATATCAATATATATATAAAATAT ATATAAATATATATATAAAATATATATATAAAATATATATAAATACATAT ATAAATATATATATAAATATATATAAATATATATATATAAAATATATATA AAATATATATATAAAATATATATAAAAATATATATATAAAATATATATAA AAATATATATATAAAATATATATAAAAATATACATATAAAATATATATAA AAATATATATATAAAATATATATAAAAATATATATATAAAATATATATAA AAATATATATATAAAATATATATAAAAAAATATATAAATATATATAAATA TATAAAAACATATATAA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	208	0.0048	866	c.192 others(885): Show c.1923+3602_1923+3603insTAAATATATATAAATATATATAAAAA TATATATAAATTTATATAATATATATATAAAAATATATATTATATATATT ATATATATAAATATATATATAAAAATATATATTATATATATTATATATAT AAATATATATATAAAAATATATATTATATATATTATATATATAAATATAT ATATAAAAATATATATTATATATATTATATATATAAATATATATATAAAA ATATATATTATATATATTATATATATAAATATATATATATAAATATATAT TATATATATTATATATATAAATATATATATAAATATATATTATATATATT ATATATAATATATATATAAAATATATATAAATATATATAAATATATATAA AATATATAAATATATATAAAAATATATATAAAATATATAAATATATATAA AAATATATATATAAATATATATATAAAAATATATATAAAAATATGTATAT AATATATATATGAAAATATATATAAAAATATATATATAAATATATATCAA TATATATATAAAATATATATAAATATATATATAAAATATATATATAAAAT ATATATAAATACATATATAAATATATATATAAATATATATAAATATATAT ATATAAAATATATATAAAATATATATATAAAATATATATAAAAATATATA TATAAAATATATATAAAAATATATATATAAAATATATATAAAAATATACA TATAAAATATATATAAAAATATATATATAAAATATATATAAAAATATATA TATAAAATATATATAAAAATATATATATAAAATATATATAAAAAAATATA TAAATATATATAAATATATAAAAACATATATAAATATATA	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(859): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGGAG GAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGG GGAGGGGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGGAGGGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGGGGGAGGGGAGGGGGGGAGGG GGAGGGGGGAGGGGAGGGGAGGGGAGGGGAAGGGGAGGGGGAGGGGGAGG GGAAGGGGAAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGA GGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGGGAAGGG GAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGGAGACAGAG GGGAGGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0201 a0001c0001t0010g0201	1	216	0.0046	866	c.923 others(885): Show c.923-33074_923-33073insCCTCCCCTCCCCCTCCCCTCTGTCTC CCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCC CCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTCCCCCT CCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCC CCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCCCCTCCCCCTCCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCC TCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(859): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGGAG GAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGTGGGAGGGGGAG GGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGGGGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG GAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGG GAGGGGAGGGGGAGGGGGAGGGGAGGGGGGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGG GAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGGGAGGGGAGGGGGG GGAGGGGGAGGGGGGAGGGGAGGGGGGGAGGGGAGGGGGGGAGGGGGAGG GGGGAGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGA GGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGGGAAGGG GAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGGAGACAGAG GGGAGGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0048 a0001c0001t0009g0048	1	216	0.0046	866	c.923 others(885): Show c.923-33074_923-33073insCCTCCCCTCCCCCTCCCCTCTGTCTC CCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCC CCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCTCCCCCCTCCCCCT CCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCCCCCCCTCC CCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTC CCACTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCC TCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCHS2_chr4_154226742_154496799	154291786	T T	TACTAAAT others(859): Show TACTAAATGGACTACATCTATTGATTTGATTTGAGGGCCTGATCATACTG GTTTTCTGTTGCGCCCAAGCCTTAATATTGTCACCTTTTGACTTAGCACA TGAAGAGTATGCAGTATAGAAGAAATCCAGAACTGAGTGGACTCAGGTTC AGTGAGAATCCAGTATCCATCTGAGCTTTCTATAGTTTCTTGAGGATCCA AATACATTTAAAACTAGCTGACACCATGTTTCAATGGTATGGGTTACTGT AGTATGCTGAGATCAATCTTCATCGAGGGATGAATGAGCCCATAGTTCAA TTTTATTATCTATGAAGCATGTGTCTGTCATGGCAGCATCCTCAATCTTG ACAAAATAAACTTTCTAAATCAACTTAGAGCTGTCTCAGATTTTTCTGGG TTCACAGCTTTAATAACAAAGTGAAAAATGCTGATCACAGGTTGTGATAA AAGAAGACAAAGCCATATACACTATGTGATATGGATGATCTAGTGTATTT ATGTGGACACAAACAGGAAAAAAAATCAAGTAAATAAATGGTCAAGAGAT TTATTTATGGTGGCTAGGAAAGGTTTGATTACATTCCATTCTATTCCTTT TCATTCCTCTCTACTCCAGTCGAGTTCATTCCATTCCATTCCATTCTGTT CGACTCCAATCCATTTGATTCAATTTGGTTCGACTCCATTCCTTTCGAGT CCATTCCTTTTGAGTCCACTCCATTCCATTCCTTTTGATGCCACTCTATT CGACTCCATTTCATTCGATTCCATTCCTTTTGTTCCCATTACATGTCATT CCATTCCATTCCAGTCCATTCCATTCACGTACATTCCATTCAATTCCATT CGATATCATTTGATTAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0075 a0075	a0075c0081 a0075c0081	a0075c0081t0015 a0075c0081t0015	a0075c0081t0015g0111 a0075c0081t0015g0111	1	192	0.0052	866	c.646 others(885): Show c.6463+6064_6463+6065insTTAATCAAATGATATCGAATGGAATT GAATGGAATGTACGTGAATGGAATGGACTGGAATGGAATGGAATGACATG TAATGGGAACAAAAGGAATGGAATCGAATGAAATGGAGTCGAATAGAGTG GCATCAAAAGGAATGGAATGGAGTGGACTCAAAAGGAATGGACTCGAAAG GAATGGAGTCGAACCAAATTGAATCAAATGGATTGGAGTCGAACAGAATG GAATGGAATGGAATGAACTCGACTGGAGTAGAGAGGAATGAAAAGGAATA GAATGGAATGTAATCAAACCTTTCCTAGCCACCATAAATAAATCTCTTGA CCATTTATTTACTTGATTTTTTTTCCTGTTTGTGTCCACATAAATACACT AGATCATCCATATCACATAGTGTATATGGCTTTGTCTTCTTTTATCACAA CCTGTGATCAGCATTTTTCACTTTGTTATTAAAGCTGTGAACCCAGAAAA ATCTGAGACAGCTCTAAGTTGATTTAGAAAGTTTATTTTGTCAAGATTGA GGATGCTGCCATGACAGACACATGCTTCATAGATAATAAAATTGAACTAT GGGCTCATTCATCCCTCGATGAAGATTGATCTCAGCATACTACAGTAACC CATACCATTGAAACATGGTGTCAGCTAGTTTTAAATGTATTTGGATCCTC AAGAAACTATAGAAAGCTCAGATGGATACTGGATTCTCACTGAACCTGAG TCCACTCAGTTCTGGATTTCTTCTATACTGCATACTCTTCATGTGCTAAG TCAAAAGGTGACAATATTAAGGCTTGGGCGCAACAGAAAACCAGTATGAT CAGGCCCTCAAATCAAATCAATAGATGTAGTCCATTTAGT	DCHS2	ENSG00000197410.14	transcript	ENST00000357232.10	protein_coding	13/19			chr4	TogoVar
DCLK1_chr13_35763652_36136382	35958279	T T	TCACCACT others(859): Show TCACCACTATAACCACCACTACCACCACCACCACTATAACCACCACCACC ACCACTATAACCACCATCATCATCACCACCACTACCACTACTGTAACCAT CACCACCATCACTGCTATAACCACCACCACCACCACCACCACCACTATAA TCATTACCACTATAACCACCACTACCACCACCACCACCATTATAACCATC ACCACCACCACTATAACCACCATCATCACCACCACCACTACCACTACTAT AACCATTACCACCATCACTACTATAACCACCACCACCACCACCACCACCA CTATAATCATTACCACTATAACCACCACTACCACCACTACCACTATGATA ACCATCACCACCACCACTATAACCACCATCATCATCACCACCACTACCAC TACTATAACCATCACCACCATTACTACTATAACCACCACTACCACCACCA CCACCATTATAACCATCACCACCACCACTATAACCACCATCATCATCACC ACCACTACCACTACTGTAACCATCACCACCATCACTGCTATAACCACCAC CACCACCACCACCACTATAATCATTACCACTATAACCACCACTACCACCA CTACCACTATGATAACCATCACCAACACCACTATAACCACCAATGCCAAG AAGTGTTCATAGCAGGAGTCATAAACACAGGACCAACCAGGGATAGGACC AACCAGGACCAACCAGGACCAACACCACCACCACTACTACCACTACTATA ACCATCACCACCATCACTGCTATAATCACCACCACCACCACCATCACTAT AACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCACCA GTTATAACCATCACCAC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0118 a0001c0002t0032g0118	1	230	0.0044	866	c.724 others(885): Show c.724-10823_724-10822insGTGGTGATGGTTATAACTGGTGGTGG TGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTGATG GTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATAGTAGT GGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCTGGTTGGTCCTATC CCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTGGCATT GGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGTGGTAG TGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGGTGGTT ATAGCAGTGATGGTGGTGATGGTTACAGTAGTGGTAGTGGTGGTGATGAT GATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATGGTGGTGGTGGTGG TAGTGGTGGTTATAGTAGTAATGGTGGTGATGGTTATAGTAGTGGTAGTG GTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATCATAGT GGTAGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGG TGGTGGTGGTGGTGGTTATAGTAGTGATGGTGGTAATGGTTATAGTAGTG GTAGTGGTGGTGGTGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTAT AATGGTGGTGGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAGTGG TGGTGGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGGTTACA GTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGGT GGTTATAGTGGTGGTGGTGGTAGTGGTGGTTATAGTGGTG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DPEP1_chr16_89608642_89643433	89619751	G G	GCCCCCCT others(859): Show GCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCCGCTCCCCTCCCT GCAGCTCCATGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTG CTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCC TGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCC TGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTG CTCCCCTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCC CTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCC CTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCT GCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCC CTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCC CTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCC CGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCC TCCCTGCAGCTCCATGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCC CCTGCTCCCCTCTCTGCAGCCCGCTTTCCCCCTGCTCCCCCCGCTCCCCT CCCTGCAGCCCCCTGGTCCCCCTGCTCCCCCCGCTCCCCTCCCTGCAGCC CCCTGCTCCCTCTGCTCCCCTCCCTGTAGCTCCCTGCAGCCCCCTGCTCC CCTCCCTGCACCCCTTT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	250	0.0040	866	c.-10 others(885): Show c.-107+6032_-107+6033insCCCCCCTGCTCCCCTCCCTGCAGCTC CATGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCCTGCTCCCCT CCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCC CCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCT CCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCT CCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCC CCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGC TCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCC TCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCC CCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGC TCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCC CTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCA GCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCTGCTC CCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCTCTGCAGCCCGCTTT CCCCCTGCTCCCCCCGCTCCCCTCCCTGCAGCCCCCTGGTCCCCCTGCTC CCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCTCTGCTCCCCTCCCTGT AGCTCCCTGCAGCCCCCTGCTCCCCTCCCTGCACCCCTTT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar
EEF1A2_chr20_63483014_63504083	63486887	C C	CCTGCCCA others(859): Show CCTGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGGGAACCTGCCC ATCCTCCACCCTGACCTCACCTGCATCCTCAGGGAACCTGCCCACCCTCC ACCCAACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCTTCCCCCCGA CCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCGACCCTTCT CCGCATCCTCAGGGAACCTGCCCATCCTCCACCCAGACCCTCCTCCGCAT CCTCAGGGAAGCTGCCCACCCTCCACCCGACCCTCCTCTTCATCCTCAGG GAACCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTG CCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAGCCTGCCCACCC TCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCTTCCACCC CACCCTCCTCCGCATCCTCAGGGAACCTGCCCATCCTCCACCCAGACCCT CCTCTGCATCCTCAGGGAAGCTGCCCACCCTCCACCCCGACCCTCCTCCG CATCCTCAGGGAAGCTGCCCAACCTCCACCCCACCCTCCTCCGCATCCTC AGGGAACCTGCCCATCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAAC CTGCCCATCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCA CCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCTCCA CCCTGACCCTCCTCTGCATCCTCAGGGAAGCTGCCCAACCTCCACCCCAC CCTCCTCCGCATCCTCAGGGAGCCTGCCCACCCTCCACCCAGACCCTCCT CTGCATCCTCAGGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	374	0.0027	866	c.14 others(877): Show c.1410_*1411insCTTCCCTGAGGATGCAGAGGAGGGTCTGGGTGGA GGGTGGGCAGGCTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGTTGGG CAGCTTCCCTGAGGATGCAGAGGAGGGTCAGGGTGGAGGGTGGGCAGGTT CCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAG GATGCGGAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCGG AGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCGGAGGAGGG TGGGGTGGAGGTTGGGCAGCTTCCCTGAGGATGCGGAGGAGGGTCGGGGT GGAGGGTGGGCAGCTTCCCTGAGGATGCAGAGGAGGGTCTGGGTGGAGGA TGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAAGGTGGGCAG GTTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCT GAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATG CAGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGAAGAGGA GGGTCGGGTGGAGGGTGGGCAGCTTCCCTGAGGATGCGGAGGAGGGTCTG GGTGGAGGATGGGCAGGTTCCCTGAGGATGCGGAGAAGGGTCGGGTGGAG GGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTCGGGGGGAAGGGTGGG CAGGTTCCCTGAGGATGCGGAGGAGGGTTGGGTGGAGGGTGGGCAGGTTC CCTGAGGATGCAGGTGAGGTCAGGGTGGAGGATGGGCAGGTTCCCTGAGG ATGCAGGTGAGGTCAGGGTGGAGGATGGGCAG	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1126		chr20	TogoVar
EPHB2_chr1_22705839_22926500	22754841	G G	GGAGGTGA others(859): Show GGAGGTGAGGGGCAGGGGAGGGGAGGTGAGGGGCAGGGGAGGGGAGGTGA GGGGCAGGGGAGGGGAGGGGCAAGGGAGGTGAGGTGAGGGGCAGGGGAGG TGAGGTGAGGGGCAGGGGAGATAAGAGGCAGGTGAGGTGAGATGAGGGGC AGGTGAGATGAGATGAGGGGCAGGGAAGGTGAGATGAGGGACAGGGGAGG TGAGGTGAGGGACAGGGGAGGTGAGGTGAGGGACAGGGGAGATAAGAGGC AGGTGAGGTGAGATGAGGGGCAGGTGAGATGAGATGAGGGGCAGGGAAGG TGAGATGAGGGACGGGGAGGTGAGGTGAGGGACAGGGGAGATAAGAGGCA GGTGAGGTGAGATGAGGGGCAGGTGAGATGAGATGAGGGGCAGGGAAGGT GAGATGAGGGACAGGGGAGGTGAGGTGAGGGACAGGGGAGGTGAGGTGAG GGTCAGGGGAGGTGAAGGGCAGGTGAGGTGAGATGAGGGGCAGGGGAGAT GAGATGAGGGGCAGAGAAGGTGAGATGAGGGATGGGGAGGTGAGGTGAGG GGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGGGAGGTGAGATGA GGGGCAGGTGAGATGAGGGGCAAGGGAGGTGAGATGAGGGGCAGGTGAGG TGAGATGAGGGGCAGGTGAGGTGAGACGAGGGGCAGGTGAGGTGAGACGT GGGGCAGGTGAGGTGAGGGACAGGGGAGGTGAGGTGAGGGGCAGGGGAGG TGAGGTGAGGGACAGGTGAGGTGAGGGGCAGGGGAGGTGAGGCAAGGGTC AGGGAAGCTGAGGCGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGG TGAGGGGCAGGGGAGGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02723.hp2 HG02451.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0082 a0001c0001t0003g0081 a0001c0001t0002g0082 a0001c0001t0003g0081	2	248	0.0081	866	c.62- others(883): Show c.62-26570_62-26569insGCAGGGGAGGGGAGGTGAGGGGCAGGGG AGGGGAGGTGAGGGGCAGGGGAGGGGAGGGGCAAGGGAGGTGAGGTGAGG GGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGATAAGAGGCAGGTGAGGTG AGATGAGGGGCAGGTGAGATGAGATGAGGGGCAGGGAAGGTGAGATGAGG GACAGGGGAGGTGAGGTGAGGGACAGGGGAGGTGAGGTGAGGGACAGGGG AGATAAGAGGCAGGTGAGGTGAGATGAGGGGCAGGTGAGATGAGATGAGG GGCAGGGAAGGTGAGATGAGGGACGGGGAGGTGAGGTGAGGGACAGGGGA GATAAGAGGCAGGTGAGGTGAGATGAGGGGCAGGTGAGATGAGATGAGGG GCAGGGAAGGTGAGATGAGGGACAGGGGAGGTGAGGTGAGGGACAGGGGA GGTGAGGTGAGGGTCAGGGGAGGTGAAGGGCAGGTGAGGTGAGATGAGGG GCAGGGGAGATGAGATGAGGGGCAGAGAAGGTGAGATGAGGGATGGGGAG GTGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGGG AGGTGAGATGAGGGGCAGGTGAGATGAGGGGCAAGGGAGGTGAGATGAGG GGCAGGTGAGGTGAGATGAGGGGCAGGTGAGGTGAGACGAGGGGCAGGTG AGGTGAGACGTGGGGCAGGTGAGGTGAGGGACAGGGGAGGTGAGGTGAGG GGCAGGGGAGGTGAGGTGAGGGACAGGTGAGGTGAGGGGCAGGGGAGGTG AGGCAAGGGTCAGGGAAGCTGAGGCGAGGGGCAGGGGAGGTGAGGTGAGG GGCAGGGGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGG	EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
FHIT_chr3_59742277_61256452	60861204	T T	TATATATG others(859): Show TATATATGATATATATCATATATGATATATATCATATATATCATATATGA TATATATGATATATATCATATATGATATATATGATATATATCATATATGA TATATATCATATATGATATATATGATATATATCATATATGATATATATGA TATATATCATATATGATATATATGATATATATCATATATGATATATATGA TATATATCATATATGATATATATCATATATATCATATATGATATATATCA TATATATCATATATGATATATATCATATATATCATATATGATATATATCA TATCATATATGATATATATCATATCATATATGATATATATCATATCATAT ATGATATATATCATATATATCATATCATATATGATATATATCATATCATA TATGATATATATCATATCATATATGATATATATCATATCATATATGATAT ATATCATATCATATATGATATATATCATATCATATATGATATATATGATA TATATCATATCATATATGATATATATCATATATATCATATCATATATGAT ATATATCATATATATGATATATCATATATATCATATATGATATATATGAT ATATATGATATATCATATCATATCATATATGATATATATGATATATCATA TCATATCATATATGATATATATGATATATATGATATATCATATCATATCA TATATGATATATATGATATATATGATATATCATATCATATCATATATGAT ATATATGATATATATGATATATCATATCATATCATATATGATATATATGA TATATATGATATATCATATCATATCATATATGATATATATGATATATATG ATATATCATATCATATC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	46	0.0217	866	c.-11 others(887): Show c.-110-39194_-110-39193insGATATGATATGATATATCATATAT ATCATATATATCATATATGATATGATATGATATATCATATATATCATATA TATCATATATGATATGATATGATATATCATATATATCATATATATCATAT ATGATATGATATGATATATCATATATATCATATATATCATATATGATATG ATATGATATATCATATATATCATATATATCATATATGATATGATATGATA TATCATATATATCATATATGATATGATATGATATATCATATATATCATAT ATATCATATATGATATATATGATATATCATATATATGATATATATCATAT ATGATATGATATATATGATATATATCATATATGATATGATATATATCATA TATATCATATATGATATGATATATATCATATATGATATGATATATATCAT ATATGATATGATATATATCATATATGATATGATATATATCATATATGATA TGATATATATCATATATGATATGATATATATGATATATATCATATATGAT ATGATATATATCATATATGATATGATATATATCATATATGATATGATATA TATCATATATGATATATATGATATATATCATATATGATATATATGATATA TATCATATATGATATATATGATATATATCATATATGATATATATCATATA TATCATATATGATATATATCATATATATCATATATGATATATATCATATA TATCATATATGATATATATCATATATATCATATATGATATATATCATATA TGATATATATCATATATATCATATATGATATATATCATATATATCATATA TGATATATATGATATATATCATATATGATATATATCATATAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FLT3_chr13_27998274_28105576	27999112	T T	TGTATATA others(859): Show TGTATATAAATATATATAAATATATATGTATATTATATACATATAAATAT ATATTTACATACATATAAATATATATTTACATACATATAAATATATATAT TTACATACATATAAATATATATTTACATACATATAACTATATATATTTAC ATACATATAACTATATATATTTACATACATATAAATATATATATTTACAT ACATATAAATATATATATTTACATACATATAAATATATATATTTACATAC ATATAAATATATATATTTACATACATATAAATATATATATTTACATACAT ATAAATATATAATTATATACATATAAATATATATAATTATATACATATAA ATATATATTTATATACATATAAATTTATATACTTATATACATATAAATTT ATATACTTATATACATATAAATTTATATACATATAAATATATATATTTAT ATACATATAAATATATATATTTATATGCATATAAATATATATATTTATAT GCATATAAATATATATATTTATATGCATATAAATATATATATTTATATGT ATATAAATATATATATTTATATGTATATAAATATATATATTTATATGTAT ATAAATATATATATTTATATGTATATAAATTTATATGTATATAAGTATAT AAATTTATATGTATATAAGTATATAAATATATATTTATATACATATAAAT ATATATTTATATACATATAAAAATATATTTATATACATATAAAAATATAT ATTTATATACATATAAAAATATATATTTATATACATATAAATATATATAT TTATATACATATAAATATATATATTTATATACATATAAATATATATATTT ATATACATATAAATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0013 a0013	a0013c0031 a0013c0031	a0013c0031t0004 a0013c0031t0004	a0013c0031t0004g0153 a0013c0031t0004g0153	1	292	0.0034	866	c.49 others(877): Show c.4939_*4940insTATATTTATATGTATATAAATATATATATTTATA TGTATATAAATATATATATTTATATGTATATAAATATATATATTTATATG TATATAAATATATATTTTTATATGTATATAAATATATATTTTTATATGTA TATAAATATATTTTTATATGTATATAAATATATATTTATATGTATATAAA TATATATTTATATACTTATATACATATAAATTTATATACTTATATACATA TAAATTTATATACATATAAATATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATATTTATATACATATAAATATATATA TTTATATGCATATAAATATATATATTTATATGCATATAAATATATATATT TATATGCATATAAATATATATATTTATATGTATATAAATATATATATTTA TATGTATATAAATTTATATGTATATAAGTATATAAATTTATATGTATATA AGTATATAAATTTATATGTATATAAATATATATTTATATGTATATAATTA TATATATTTATATGTATATAATTATATATTTATATGTATGTAAATATATA TATTTATATGTATGTAAATATATATATTTATATGTATGTAAATATATATA TTTATATGTATGTAAATATATATATTTATATGTATGTAAATATATATATT TATATGTATGTAAATATATATAGTTATATGTATGTAAATATATATAGTTA TATGTATGTAAATATATATTTATATGTATGTAAATATATATATTTATATG TATGTAAATATATATTTATATGTATGTAAATATATATTTATATGTATATA ATATACATATATATTTATATATATTTATATAC	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4161		chr13	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(859): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGTATATAT GGAACATATATACATATATGGAACCAATACATACATGGAACATATATATG TGGAACCAATACATACACGGAACATATATATGTGGAACCAATACGTATAC GGAACATATATATGTGGAACCAATACGTATACGGAACATATATATGTGGA ACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAA CATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCA ATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATA TATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATAC ATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATCTGGAACCAATACATATACGGAACATATATATCTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATATGCAACA TATATATGTGGAACCAATACATATATGCAACATATATATGTGGAACCAAT ACATATATGCAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0207 a0002c0002t0002g0207	1	323	0.0031	866	c.-36 others(877): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGTATATATGGAACATATATACATATATGGAACCAATACATACA TGGAACATATATATGTGGAACCAATACATACACGGAACATATATATGTGG AACCAATACGTATACGGAACATATATATGTGGAACCAATACGTATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATA CATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATAT ATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATA TACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGT GGAACCAATACATATACGGAACATATATATCTGGAACCAATACATATACG GAACATATATATCTGGAACCAATACATATACGGAACATATATATGTGGAA CCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAAC ATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAA TACATATATGCAACATATATATGTGGAACCAATACATATATGCAACATAT ATATGTGGAACCAATACATATATGCAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(859): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGTATATAT GGAACATATATACATATATGGAACCAATACATACATGGAACATATATATG TGGAACCAATACATACATGGAACATATATATGTGGAACCAATACATACAT GGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGA ACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAA CATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCA ATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATA TATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATAC ATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATCTGGAACCAATACATATACGGAACATATATATCTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATATGCAACA TATATATGTGGAACCAATACATATATGCAACATATATATGTGGAACCAAT ACATATATGCAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0201 a0002c0002t0002g0201	1	323	0.0031	866	c.-36 others(877): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGTATATATGGAACATATATACATATATGGAACCAATACATACA TGGAACATATATATGTGGAACCAATACATACATGGAACATATATATGTGG AACCAATACATACATGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATA CATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATAT ATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATA TACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGT GGAACCAATACATATACGGAACATATATATCTGGAACCAATACATATACG GAACATATATATCTGGAACCAATACATATACGGAACATATATATGTGGAA CCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAAC ATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAA TACATATATGCAACATATATATGTGGAACCAATACATATATGCAACATAT ATATGTGGAACCAATACATATATGCAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(859): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGTATATAT GGAACATATATACATATATGGAACCAATACATACATGGAACATATATATG TGGAACCAATACATACATGGAACATATATATGTGGAACCAATACATATAC GGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGA ACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAA CATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCA ATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATA TATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATAC ATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATCTG GAACCAATACATATACGGAACATATATATCTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATATGCAACATATATATGTGGAACCAAT ACATATATGCAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0190 a0002c0002t0002g0190	1	323	0.0031	866	c.-36 others(877): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGTATATATGGAACATATATACATATATGGAACCAATACATACA TGGAACATATATATGTGGAACCAATACATACATGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATA CATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATAT ATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATA TACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGT GGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACG GAACATATATATCTGGAACCAATACATATACGGAACATATATATCTGGAA CCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAAC ATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAA TACATATACGGAACATATATATGTGGAACCAATACATATATGCAACATAT ATATGTGGAACCAATACATATATGCAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322309	A A	ATATATGC others(859): Show ATATATGCAATATATATATATGGAATATATATATGCAGTATATATATATG AATATATATATGGAATATATATATGGAATATATATATGGAATATATATAT GGAATATATATATGGAATATATATATGGAATATATATATATGTGGAATAT ATATATGGAATATATATATATGTGGAATATATATATGGAATATATATATA TGTGGAATATATATATGGAATATATATATATGTGGAATATATATATGGAA TATATATATATGTGGAATATATATATGGAATATATATATATGTGGAATAT ATATATGGAATATATATATGGAATATATACATGGAATATATGTATATGGA ATATATACATGGAATATGTGTATATGGAATATATACATGGAATATATATA TGGAATATATACATGGAATATATATATGGAATATATACATGGAATATATA TATATGGAATATATACATGGAATATATATATATGGAATATATACATGGAA TATATATATATGGAATATATACATGGAATATATATATATAGAATATATAC ATGGAATATATATATGGAATATATACATGGAATATATATATATGGAATAT ATACATGGAACATATACATGGAATATATACATGGAACATATACATGGAAT ATATACATGGAACATATACATGGAATATATATATATGGAACATATACGGA ATATATATATGGAATATATATACGGAATATATATATATGGAATATATATA CGGAATATATATATGGAATATATATACGGAATATATATATATGGAATATA TATACGGAATATATATATATGGAATATATATACGGAATATATATATGGAA TATATATATGGAATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0200 a0002c0002t0002g0200	1	323	0.0031	866	c.-27 others(877): Show c.-2747_-2746insTATATGCAATATATATATATGGAATATATATATG CAGTATATATATATGAATATATATATGGAATATATATATGGAATATATAT ATGGAATATATATATGGAATATATATATGGAATATATATATGGAATATAT ATATATGTGGAATATATATATGGAATATATATATATGTGGAATATATATA TGGAATATATATATATGTGGAATATATATATGGAATATATATATATGTGG AATATATATATGGAATATATATATATGTGGAATATATATATGGAATATAT ATATATGTGGAATATATATATGGAATATATATATGGAATATATACATGGA ATATATGTATATGGAATATATACATGGAATATGTGTATATGGAATATATA CATGGAATATATATATGGAATATATACATGGAATATATATATGGAATATA TACATGGAATATATATATATGGAATATATACATGGAATATATATATATGG AATATATACATGGAATATATATATATGGAATATATACATGGAATATATAT ATATAGAATATATACATGGAATATATATATGGAATATATACATGGAATAT ATATATATGGAATATATACATGGAACATATACATGGAATATATACATGGA ACATATACATGGAATATATACATGGAACATATACATGGAATATATATATA TGGAACATATACGGAATATATATATGGAATATATATACGGAATATATATA TATGGAATATATATACGGAATATATATATGGAATATATATACGGAATATA TATATATGGAATATATATACGGAATATATATATATGGAATATATATACGG AATATATATATGGAATATATATATGGAATATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2660		chr21	TogoVar
ITGB1BP1_chr2_9398475_9428528	9400249	T T	TTCCCCTC others(859): Show TTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTT CCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCC CCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCC CTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCT GCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGC CCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCT CCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTG CCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCC CCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTC CTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTC CCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCC TCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCTTCCCCTCC TGCCCTCCTGCCCCCCTCCCCTCCTGCCCACCTTCCCTCCTGCCCCCTCC CCTTCTGCCCTCCTGCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCCCT CCTGTACCCCTCCCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTGCCCCCC TCCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTCCTGCCCCCTCCCC TCCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTGCCCCCCCTCCCCTC CTCCCCTCCTGCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0219 a0001c0001t0034g0219	1	276	0.0036	866	c.65 others(877): Show c.6584_*6585insGGGGGGCAGGAGGGGAGGAGGGGAGGGGGGGCAG GAGGGGAGGGGGCAGGAGGGCATGAGGGGAGGAGGGGAGGGGGCAGGAGG GGAGGGGGTAGGAAGGGAGGGGGCAGGAGGGGAGGGGGGCAGGGGGCAGG AGGGGAGGGGGCAGGAGGGGGGAGGGGTACAGGAGGGGAGGGGGGAGGGG TACAGGAGGGGAGGGGGGCAGGAGGGCAGAAGGGGAGGGGGCAGGAGGGA AGGTGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAAGGGGCAGG AGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAGGGG GCAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAGGGGGGCAGGAGGGC AGGAGGGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGG GGGCAGGAGGGGAGGGGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGG GGAGGGGGGCAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAGGGGGCA GGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGA GGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGG CAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCA GGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGG GGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGG CAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGA AGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		3225		chr2	TogoVar
JUND_chr19_18274694_18286622	18284520	A A	AAATAATA others(859): Show AAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAAG ACCTGGCCGTGCGCGATGGCTCACTCCTATAATCCCAGCACTTTGGGAAT CCAAAGCGGGTGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCCAAC ATGGTGAAACCCTGTCTCTACTAAAAATTCAAAAATTAGCTGGGCGTGGT GGCGAATGCCTGTAGTCCCTGCTACTTGGGAGGCTGAGGCAGGAGAATTG CTTGAGCCCGGGAGGCAGAGGCTACAGTGAGCCAAGATTACGCCACTGCA CTGCAGCCTGGGCAAAAGAGTAAGAATCCGTCTCAATAATAATAATAATA ATAATAATGATAGGCCGGGCGCGGTGGCTCTCGCCTGTAATCCCAGCCCT TTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACCAG CTTGGCCAGCATGGTGAAACCCCGTCTCCACTACAAATACAAAAATTAGC CAGGTGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGC AGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCG CGCCAGAGGTTGCGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGG CAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAACCCGTCTCTACT AAAAATACAAAATGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAGGTT GCGGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACGAGCGAA ACTCTGCCTAAAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	408	0.0025	866	c.-30 others(877): Show c.-3037_-3036insATTATTTTAGGCAGAGTTTCGCTCGTTGCCCAGG CTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGG TTCAACCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCA TGCGCCACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAA TGGCGCGATCTTGGCTCACCGCAACCTCTGGCGCGATCTTGGCTCACTGC AACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGT AGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTG TAGTGGAGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCG ACCTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGG CGAGAGCCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTG AGACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCTT GGCTCACTGTAGCCTCTGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAG CCTCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAATT TTTGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCT TGATCTCCTGACCTCATGATCCACCCGCTTTGGATTCCCAAAGTGCTGGG ATTATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATTA TTATTATTATTATTATTATTATTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2899		chr19	TogoVar
JUND_chr19_18274694_18286622	18284520	A A	AAATAATA others(859): Show AAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATA AAGACCTGGCCGTGCGCGATGGCTCACTCCTATAATCCCAGCACTTTGGG AATCCAAAGCGGGTGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCC AACATGGTGAAACCCTGTCTCTACTAAAAATTCAAAAATTAGCTGGGCGT GGTGGCGAATGCCTGTAGTCCCTGCTACTTGGGAGGCTGAGGCAGGAGAA TTGCTTGAGCCCGGGAGGCAGAGGCTACAGTGAGCCAAGATTACGCCACT GCACTGCAGCCTGGGCAAAAGAGTAAGAATCCGTCTCAATAATAATAATA ATAATAATAATGATAGGCCGGGCGCGGTGGCTCTCGCCTGTAATCCCAGC CCTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGAC CAGCTTGGCCAGCATGGTGAAACCCCGTCTCCACTACAAATACAAAAATT AGCCAGGTGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGA GGCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGA TCGCGCCAGAGGTTGCGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCT GGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAACCCGTCTCT ACTAAAAATACAAAATGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAG GTTGCGGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACGAGC GAAACTCTGCCTAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	408	0.0025	866	c.-30 others(877): Show c.-3037_-3036insATTTTAGGCAGAGTTTCGCTCGTTGCCCAGGCTG GAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTC AACCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGC GCCACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGG CGCGATCTTGGCTCACCGCAACCTCTGGCGCGATCTTGGCTCACTGCAAC CTCTGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGC TGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAG TGGAGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGACC TCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGA GAGCCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTGAGA CGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCTTGGC TCACTGTAGCCTCTGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAGCCT CCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAATTTTT GAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTTGA TCTCCTGACCTCATGATCCACCCGCTTTGGATTCCCAAAGTGCTGGGATT ATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATTATTA TTATTATTATTATTATTATTATTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2899		chr19	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(859): Show CGCCCCCACAGCCGCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCCG CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CCCACAGCCGCCCCCACAGCCACCCCCACAGCCGCCCCCCACAGCCACCC CCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCG CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACA GCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCA CAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTC CCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGC CCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCC GCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGC CGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGC AGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	312	0.0032	866	c.-41 others(881): Show c.-41+629_-41+630insCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCC CCCCACAGCCGCCCCCACAGCCACCCCCACAGCCGCCCCCCACAGCCACC CCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCAC AGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCC ACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCC CCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCT CCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCG CCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGC CGCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAG CCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCG CAGCTGCCCCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KDM2B_chr12_121424096_121586023	121514897	C C	CACCCCCA others(859): Show CACCCCCAATCACACTCCCCACCCCCTCTAATCACACTCCCCACCCCCTA ATCACACTCCCCACCCCAGTCACACTCCCCATCCCCTCTAATCACACTCC CCACCCCCAATCACACTCCCCACCCCCCCAATCACACTCCTCACCCCCTC TAATCACACTCCCCATCCCCTAATCACACTCCCCACCCCAATCACACTCC CCATCCCCTCTAATCACACTCCCCACCCCCAATCACACTCCCCACCCCCC AATCACACTCCTCACCCCCTCTAATCACACTCCCCACCCCCTAATCACAC TCCCCACCCCAATCACACTCCCCATCCCCTCTAATCACACTCCCCACCCC CAATCACACTCCCCACCCCCCAATCACACTCCCCACCCCCTCTAATCACA CTCCCCACCCCCTAATCACACTCCCCACCCCAATCACACTCTCCATCCCC TCTAATCACACTCCCCACCCCCAATCACACTCCCCACCCCCTCTAATCAC ACTCCCCACCCCCTAATCACACTCCCCACCCCAATCACACTCCCCATCCC CTCTAATCACACTCCCCACCCCCAATCACACTCCCCACCCCCCAATCACA CTCCTCACCCCCTCTAATCACACTCCCCACCCCCTAATCACACTCCCCAC CCCAATCACACTCCCCATCCCCTCTAATCACACTCCCCACCCCCAATCAC ACTCCCCACCCCCTCTAATCACACTCCCCACCCCCCAATCACAGTCCCCA TCCCCCAATCACACTCCCCATCCCCCCATCACTCCCCACCCCCAATCACA TTCCCCATCCCCCGAATCACACCCCCCACCCCCTAATCACACTCCCCACC CCCTAATCACACTCCCT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0204	1	270	0.0037	866	c.104 others(885): Show c.1048-1496_1048-1495insAGGGAGTGTGATTAGGGGGTGGGGAG TGTGATTAGGGGGTGGGGGGTGTGATTCGGGGGATGGGGAATGTGATTGG GGGTGGGGAGTGATGGGGGGATGGGGAGTGTGATTGGGGGATGGGGACTG TGATTGGGGGGTGGGGAGTGTGATTAGAGGGGGTGGGGAGTGTGATTGGG GGTGGGGAGTGTGATTAGAGGGGATGGGGAGTGTGATTGGGGTGGGGAGT GTGATTAGGGGGTGGGGAGTGTGATTAGAGGGGGTGAGGAGTGTGATTGG GGGGTGGGGAGTGTGATTGGGGGTGGGGAGTGTGATTAGAGGGGATGGGG AGTGTGATTGGGGTGGGGAGTGTGATTAGGGGGTGGGGAGTGTGATTAGA GGGGGTGGGGAGTGTGATTGGGGGTGGGGAGTGTGATTAGAGGGGATGGA GAGTGTGATTGGGGTGGGGAGTGTGATTAGGGGGTGGGGAGTGTGATTAG AGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTGGGGGTGGGG AGTGTGATTAGAGGGGATGGGGAGTGTGATTGGGGTGGGGAGTGTGATTA GGGGGTGGGGAGTGTGATTAGAGGGGGTGAGGAGTGTGATTGGGGGGTGG GGAGTGTGATTGGGGGTGGGGAGTGTGATTAGAGGGGATGGGGAGTGTGA TTGGGGTGGGGAGTGTGATTAGGGGATGGGGAGTGTGATTAGAGGGGGTG AGGAGTGTGATTGGGGGGGTGGGGAGTGTGATTGGGGGTGGGGAGTGTGA TTAGAGGGGATGGGGAGTGTGACTGGGGTGGGGAGTGTGATTAGGGGGTG GGGAGTGTGATTAGAGGGGGTGGGGAGTGTGATTGGGGGT	KDM2B	ENSG00000089094.20	transcript	ENST00000377071.9	protein_coding	9/22			chr12	TogoVar
LARS1_chr5_146108034_146187650	146174557	T T	TATATATA others(859): Show TATATATATATCCATATATATATATCCATATATATATATATCCATATATA TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATATATCCATATATATATATATC CATATATATATATATCCATATATATATATATCCATATATATATATCCATA TATATATATATATCCATATATATATCCATATATATATATATCCATATATA TATATCCATATATATATATCCATATATATATATCCATATATATATATATC CATATATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATCCATATATATATATCCATATATATATATCCATATATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATATCCATATATATATCCATATATATATC CATATATATATATCCATATATATATATCCATATATATATATCCATATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATA TCCATATATATATATCCATATATATATATATCCATATATATATCCATATA TATATATATCCATATATATATCCATATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATCCATATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATCCATATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATATC CATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0220 a0002c0002t0002g0220	1	284	0.0035	866	c.126 others(883): Show c.126-1784_126-1783insGGATATATATATATATGGATATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATATGG ATATATATATATGGATATATATATATATGGATATATATATATGGATATAT ATATATATGGATATATATATGGATATATATATATATGGATATATATATAT GGATATATATATATATGGATATATATATGGATATATATATATATGGATAT ATATATGGATATATATATATATGGATATATATATATGGATATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATATGGAT ATATATATATGGATATATATATATGGATATATATATATGGATATATATAT GGATATATATATGGATATATATATATGGATATATATATATATGGATATAT ATATATGGATATATATATATGGATATATATATATATGGATATATATATAT ATGGATATATATATATGGATATATATATATGGATATATATATGGATATAT ATATATATGGATATATATATATGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATGGATATATATATATGGAT ATATATATATATGGATATATATATGGATATATATATATATATGGATATAT ATATATGGATATATATATATATGGATATATATATATATGGATATATATAT ATATGGATATATATATATATGGATATATATATATATGGATATATATATAT GGATATATATATATGGATATATATATATATGGATATATATATATATGGAT ATATATATATATGGATATATATATATGGATATATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LDLRAD3_chr11_35939062_36237136	36055114	A A	ATGGATGC others(859): Show ATGGATGCATGGATGGATGGATGCATGGATGGATGGATGATGGATACATG GATGCATGGATGGATGGTTGGATGGATGGATGCATGGATGCATGGATGGA TGGATGCATGGGTGGATGGATGCATGGATGGGTGCATGGATGGATGGATG GATGGATGGATAAATGGATGCATGGATGCATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATAGATGCATGGATGGATG GATGAATGGATGGATGGATGGATGGATGGATAGATGGATGAATGGATGAA TGGATGGATGAGTAGGTGGAAGGGTAGATAGATAGATGGGTGGGTCAGTG GATGGATGGATAGTTGGGTGGTTGAGTAGGTGGATGGATGAATGGGTAGA TTTATGGGCCGATGTGTAAAGACAGAGGTCTCTCATTCCACAACCACATG TCCTACTGGAAGCCTTCTCTCCCTTCCTATCCAGGCTAGGTAGATGCCCC TTGTCCCTGCTCCCATAGCATTGCCTCTCTCTACATTTGACTTGTAAACA AGAAGATACAGTAAACTGTTATAGTTTTCATTTTCCAAGGAATCAGATGC TTCAGTACAGCCAGGAAAAGGTCTGATACACCTTGTTCACTGTTATCCCC ACACCAAACAACATTAGCTCCTGCTACATGGGAGATGCTTAGTACACTTT TGTTGAATGAATCAATGAAAGAACAGTGAGTATTTACTAGTACTTGTGGG GGCAAATCATTGCTTGCATTCTTACATCTCTCTCACTACTGCTGTCTCAG AGCTAGTTTTCTCTTACCAGGAGGCCAGATGGGATTGCTGAGCAAGAATA AGATTGCTTCCATCTGT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0218 a0001c0001t0007g0218	1	236	0.0042	866	c.193 others(885): Show c.193+18865_193+18866insTGGATGCATGGATGGATGGATGCATG GATGGATGGATGATGGATACATGGATGCATGGATGGATGGTTGGATGGAT GGATGCATGGATGCATGGATGGATGGATGCATGGGTGGATGGATGCATGG ATGGGTGCATGGATGGATGGATGGATGGATGGATAAATGGATGCATGGAT GCATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATAGATGCATGGATGGATGGATGAATGGATGGATGGATGGATGGAT GGATAGATGGATGAATGGATGAATGGATGGATGAGTAGGTGGAAGGGTAG ATAGATAGATGGGTGGGTCAGTGGATGGATGGATAGTTGGGTGGTTGAGT AGGTGGATGGATGAATGGGTAGATTTATGGGCCGATGTGTAAAGACAGAG GTCTCTCATTCCACAACCACATGTCCTACTGGAAGCCTTCTCTCCCTTCC TATCCAGGCTAGGTAGATGCCCCTTGTCCCTGCTCCCATAGCATTGCCTC TCTCTACATTTGACTTGTAAACAAGAAGATACAGTAAACTGTTATAGTTT TCATTTTCCAAGGAATCAGATGCTTCAGTACAGCCAGGAAAAGGTCTGAT ACACCTTGTTCACTGTTATCCCCACACCAAACAACATTAGCTCCTGCTAC ATGGGAGATGCTTAGTACACTTTTGTTGAATGAATCAATGAAAGAACAGT GAGTATTTACTAGTACTTGTGGGGGCAAATCATTGCTTGCATTCTTACAT CTCTCTCACTACTGCTGTCTCAGAGCTAGTTTTCTCTTACCAGGAGGCCA GATGGGATTGCTGAGCAAGAATAAGATTGCTTCCATCTGT	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	2/5			chr11	TogoVar
LDLRAD3_chr11_35939062_36237136	36055116	A A	ATGGATGC others(859): Show ATGGATGCATGGATGGATGGATGCATGGATGGATGGATGATGGATACATG GATGCATGGATGGATGGTTGGATGGATGGATGCATGGATGCATGGATGGA TGGATGCATGGGTGGATGGATGCATGGATGGGTGCATGGATGGATGGATG GATGGATGGATAAATGGATGCATGGATGCATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATAGATGCATGGATGGATG GATGAATGGATGGATGGATGGATGGATGGATAGATGGATGAATGGATGAA TGGATGGATGAGTAGGTGGAAGGGTAGATAGATAGATGGGTGGGTCAGTG GATGGATGGATAGTTGGGTGGTTGAGTAGGTGGATGGATGAATGGGTAGA TTTATGGGCCGATGTGTAAAGACAGAGGTCTCTCATTCCACAACCACATG TCCTACTGGAAGCCTTCTCTCCCTTCCTATCCAGGCTAGGTAGATGCCCC TTGTCCCTGCTCCCATAGCATTGCCTCTCTCTACATTTGACTTGTAAACA AGAAGATACAGTAAACTGTTATAGTTTTCATTTTCCAAGGAATCAGATGC TTCAGTACAGCCAGGAAAAGGTCTGATACACCTTGTTCACTGTTATCCCC ACACCAAACAACATTAGCTCCTGCTACATGGGAGATGCTTAGTACACTTT TGTTGAATGAATCAATGAAAGAACAGTGAGTATTTACTAGTACTTGTGGG GGCAAATCATTGCTTGCATTCTTACATCTCTCTCACTACTGCTGTCTCAG AGCTAGTTTTCTCTTACCAGGAGGCCAGATGGGATTGCTGAGCAAGAATA AGATTGCTTCCATCTGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02922.hp2 HG03098.hp1 others(2): Show HG02280.hp2 HG02922.hp2 HG03098.hp1 HG03209.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 others(2): Show a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0002t0005 a0001c0002t0008	a0001c0001t0004g0162 a0001c0001t0006g0203 a0001c0002t0001g0157 others(2): Show a0001c0001t0004g0162 a0001c0001t0006g0203 a0001c0002t0001g0157 a0001c0002t0005g0156 a0001c0002t0008g0039	5	236	0.0212	866	c.193 others(885): Show c.193+18867_193+18868insTGGATGCATGGATGGATGGATGCATG GATGGATGGATGATGGATACATGGATGCATGGATGGATGGTTGGATGGAT GGATGCATGGATGCATGGATGGATGGATGCATGGGTGGATGGATGCATGG ATGGGTGCATGGATGGATGGATGGATGGATGGATAAATGGATGCATGGAT GCATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATAGATGCATGGATGGATGGATGAATGGATGGATGGATGGATGGAT GGATAGATGGATGAATGGATGAATGGATGGATGAGTAGGTGGAAGGGTAG ATAGATAGATGGGTGGGTCAGTGGATGGATGGATAGTTGGGTGGTTGAGT AGGTGGATGGATGAATGGGTAGATTTATGGGCCGATGTGTAAAGACAGAG GTCTCTCATTCCACAACCACATGTCCTACTGGAAGCCTTCTCTCCCTTCC TATCCAGGCTAGGTAGATGCCCCTTGTCCCTGCTCCCATAGCATTGCCTC TCTCTACATTTGACTTGTAAACAAGAAGATACAGTAAACTGTTATAGTTT TCATTTTCCAAGGAATCAGATGCTTCAGTACAGCCAGGAAAAGGTCTGAT ACACCTTGTTCACTGTTATCCCCACACCAAACAACATTAGCTCCTGCTAC ATGGGAGATGCTTAGTACACTTTTGTTGAATGAATCAATGAAAGAACAGT GAGTATTTACTAGTACTTGTGGGGGCAAATCATTGCTTGCATTCTTACAT CTCTCTCACTACTGCTGTCTCAGAGCTAGTTTTCTCTTACCAGGAGGCCA GATGGGATTGCTGAGCAAGAATAAGATTGCTTCCATCTGT	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	2/5			chr11	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(859): Show ATATATTTATATATATTTATATATATTTATATATATATTTATATATATAT TTATATATATATTATTTATATATATATTTATATATATTTATATATATTTA TATATATTTATATATATTTATATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATTTATATATATTTATATATATTTATATA TATATTTATATATATTTATATATATTTATATATATATTTATATATATATT ATATATATATATTTATATATATTTATATATATATTTATATATATATATTT TTATATATATTTATATATATTTTTATATATATTTATATATATTTATATAT AGTTATATATATTTATGTATAGTTATATATATTTATGTATAGTTATATAT AGTTATGTATAGTTATATATATAGTTATGTATAGTTATATATATAGTTAT ATATATATATTTTTATATATATAGTTATATATATATATTTTTATATATAT AGTTATATATATATATTTTTATATATATAGTTATATATATATATTTTTAA TATATAGTTATATATATATATTTTTATATATATAGTTATATATATATTTA TATATATAGTTATATATTTATATATATTTATATATATTTATATATATATT TATATATTTATTTATATATATTTATATATGTATTTATATATATTTATATA TATTTATATGTATTTATATATATTTATATATATTTATATATATATATATA AATATATTTATATATATAAAGTATAAATATTTATATATATTTATATATAT TTATATATATATTTATGTATATTTATATATATTTATATATATATTTATGT ATATTTATATATGTATT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0105 a0001c0001t0004g0105	1	260	0.0039	866	c.125 others(883): Show c.125+9673_125+9674insATTTATATATATTTATATATATTTATAT ATATATTTATATATATATTTATATATATATTATTTATATATATATTTATA TATATTTATATATATTTATATATATTTATATATATTTATATATATATTTA TATATATATTTATATATATTTATATATATATTTATATATATTTATATATA TTTATATATATTTATATATATATTTATATATATTTATATATATTTATATA TATATTTATATATATATTATATATATATATTTATATATATTTATATATAT ATTTATATATATATATTTTTATATATATTTATATATATTTTTATATATAT TTATATATATTTATATATAGTTATATATATTTATGTATAGTTATATATAT TTATGTATAGTTATATATAGTTATGTATAGTTATATATATAGTTATGTAT AGTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATAT ATATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGTT ATATATATATATTTTTAATATATAGTTATATATATATATTTTTATATATA TAGTTATATATATATTTATATATATAGTTATATATTTATATATATTTATA TATATTTATATATATATTTATATATTTATTTATATATATTTATATATGTA TTTATATATATTTATATATATTTATATGTATTTATATATATTTATATATA TTTATATATATATATATAAATATATTTATATATATAAAGTATAAATATTT ATATATATTTATATATATTTATATATATATTTATGTATATTTATATATAT TTATATATATATTTATGTATATTTATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LORICRIN_chr1_153254687_153267124	153256713	A A	AGTCACAT others(859): Show AGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACT ATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATAT AAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATAT GTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTC ACATATGTATATAAAACTAAATATAGTCATATATGTATATAAAACTATAT ATAGTTATATGTATATAAAACTATATATAGTTATATGTATATAAAACTAT AGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACT ATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATAT AAAACTATATAGTCATATATGTATATAAAACTATATACAGTCATATATGT ATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCAT ATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATAC AGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACT ATATACAGTCATATATGTATATAAAACTATATAGTTATATATGTATATAA AACTATATAGTTATATATGTATATAAAACTATAGTTATATATGTATATAA AACTATAGTTATATATGTATATAAAACTATAGTTATATATGTATATAAAA CTATAGTTATATATGTATATAAAACTATAGTTATATATGTATGTAAAACT ATAGTTATATATGTATGTAAAACTATAGTTATATATGTAAAACTATAGTT ATATATGTATGTAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0001 a0004c0004t0001g0001	1	422	0.0024	866	c.-30 others(877): Show c.-3044_-3043insGTCACATATGTATATAAAACTATATATAGTCACA TATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATA GTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTA TATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATA AAACTATATATAGTCACATATGTATATAAAACTAAATATAGTCATATATG TATATAAAACTATATATAGTTATATGTATATAAAACTATATATAGTTATA TGTATATAAAACTATAGTCATATATGTATATAAAACTATATACAGTCATA TATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACA GTCATATATGTATATAAAACTATATAGTCATATATGTATATAAAACTATA TACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAA ACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTA TATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATA TATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATAGT TATATATGTATATAAAACTATATAGTTATATATGTATATAAAACTATAGT TATATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTA TATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATA TATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATA TGTAAAACTATAGTTATATATGTATGTAAAAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2973		chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(859): Show CCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTA CATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTAC CTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTT ACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGG CCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATA CCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTAC TACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTT ACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGC TTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTA CATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0214 a0001c0004t0003g0214	1	296	0.0034	866	c.368 others(883): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGG TAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGT AGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGG GTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCG GCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAAGTACGTGGCCCGGGTATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar

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Search Results (Total: 7053 hits)