Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(611): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATAAATATA TATTATAACTATATTAAATATATAAATTATATAATATATATTATATATTG TATATTATATAATTTATATAATATATTATATGTTATATAATATATATTAT ATATTGTATATATTATATTATATATTATATATTTTATATATCATATATAG TATGCTATATAATATATATTTTTATATATTATATAGTATACTATATATTT TTATATATTATATAGTATACTATATAATATATATTTTTATATATTATATA TAATATATATAATTATATATCATATATATTTATATAATATATGATATATA ATATATAATATATATTATGTATTATATAATTATATAAAATATATCGTATA TTATATATTATAAATAATATATTATATATTATATTATATATTATAAATAA TATATTATATATTATTTATAATATATTATAAATAATATATTATATATTAT ATTATATATTATAAATAATATATTATATATTATATTATATATTATAAATA ATATATTATATATTATATTATAAATAATATATTATATATTATAAATAATA TATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp1 HG00639.hp2 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0297 a0001c0001t0036g0298 a0001c0001t0036g0297 a0001c0001t0036g0298	2	302	0.0066	618	c.-1- others(635): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATAAATATATATTATAACTATATTAAATATATAAATTATATAA TATATATTATATATTGTATATTATATAATTTATATAATATATTATATGTT ATATAATATATATTATATATTGTATATATTATATTATATATTATATATTT TATATATCATATATAGTATGCTATATAATATATATTTTTATATATTATAT AGTATACTATATATTTTTATATATTATATAGTATACTATATAATATATAT TTTTATATATTATATATAATATATATAATTATATATCATATATATTTATA TAATATATGATATATAATATATAATATATATTATGTATTATATAATTATA TAAAATATATCGTATATTATATATTATAAATAATATATTATATATTATAT TATATATTATAAATAATATATTATATATTATTTATAATATATTATAAATA ATATATTATATATTATATTATATATTATAAATAATATATTATATATTATA TTATATATTATAAATAATATATTATATATTATATTATAAATAATATATTA TATATTATAAATAATATATTATATATAATATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZFAND3_chr6_37814727_38159624	37910346	C C	CCTAAGTA others(611): Show CCTAAGTAATTGTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTT TTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTG CCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATAT CTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGA GTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCA CCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTT ACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGA ACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCAC ATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGT CTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTT TATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATG GCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACAC TGACTTCCACAATGGTTGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0050 a0001c0001t0016g0050	1	318	0.0031	618	c.72- others(635): Show c.72-19600_72-19599insTTTTTTTTTTTTTTTTTTTTTATTATAC TCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTA TACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATT AGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAG TCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTC AATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGC GATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAA GGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATA TGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGG TTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCA TGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTA ATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAAT CGCCACACTGACTTCCACAATGGTTGACTAAGTAATTGTT	ZFAND3	ENSG00000156639.12	transcript	ENST00000287218.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACATTG others(612): Show GTACATTGTATATACTATATATATTTTATGTATAGTATATATACTGTATA TACTATATATATTTTATGTATAGTATATATACTGTATATACTATATATAT TTTATGTATAGTATATATACTGTATATACTATATATATTTTATGTATAGT ATATATACTGTATATACTATATATATTTTATGTATAGTATATATACTGTA TATACTATATATATTTTATGTATAGTATATATACTGTATATACTATATAT ATTTTATGTATAGTATATATACTGCATATACTATATATATTTTATGTATA GTATATATACTGCATATACTATATATATTTTATGTATAGTATATATACTG CATATACTATATATATTTTATGTATAGTATATATACTGCATATACTATAT ATATTTTATGTATAGTATATATACTGTATATACTATATATATTTTATGTA TAGTATATATACTGTATATACTATATATATTTTATGTATAGTATATATAC TGTATATACTATATATATTTTATGTATAGTATATATACTGTATATACTAT ATATATTTTATGTATAGTATATATACTGTATATACTATATATATTTTATG TATAGTATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0022 a0001c0003t0003g0022	1	182	0.0055	619	c.505 others(638): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTATATACAGTATATATACTATACATAAAATATATATAGTA TATACAGTATATATACTATACATAAAATATATATAGTATATACAGTATAT ATACTATACATAAAATATATATAGTATATACAGTATATATACTATACATA AAATATATATAGTATATACAGTATATATACTATACATAAAATATATATAG TATATGCAGTATATATACTATACATAAAATATATATAGTATATGCAGTAT ATATACTATACATAAAATATATATAGTATATGCAGTATATATACTATACA TAAAATATATATAGTATATGCAGTATATATACTATACATAAAATATATAT AGTATATACAGTATATATACTATACATAAAATATATATAGTATATACAGT ATATATACTATACATAAAATATATATAGTATATACAGTATATATACTATA CATAAAATATATATAGTATATACAGTATATATACTATACATAAAATATAT ATAGTATATACAGTATATATACTATACATAAAATATATATAGTATATACA GTATATATACTATACATAAAATATATATAGTATATACAATGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ARHGAP19_chr10_97217179_97297637	97251784	A A	AGGGAAGG others(612): Show AGGGAAGGAAGGGAGAAAGGGAAGGGAAGGGAAGGAAGGGAAAGGGAAGG GGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGAAGGGAAAGGGA AGGGAAGGGGAAGGGAAGGGAAGGGGAAGGAGGAAGGAAGGGAAAGGGAG AAAAGGGAAGGAAGGGAAGGGGAAGGAAGGGAAAGGGAAGGGAAGGGAAG GGAAGGGAAGGAAGGGAAGGGGAAGGGAAGGAAGGGAAGGGGAAGGGAAG AAGGGAAGGGGAAGGGAAGGGAAAGGGAAAGGGAAGGAAAGGGAAGGGGA AGGGAAGGGAAGGGAAGGAAAGGGAAGGGAAGGGAAGGGGAAGGGAAGGG AAGGGAAAGGGAAGAGGGAAGGGAAGGGAGGGGAAGGGAAGGGGAGGAAG GGAAGGAAGGAAGGAAGGAAGGGAGGAGGGAAGTGAAGGGTAGGCAAAGG GAAAGGAAAGGAAGGAAAGAGAGGAGGAGGGAGGGAGGAAGGAAGGACGG ATGGACGGACAGGACGAAAAAAGAGAGGGGAGGGAAGAGAGGGAGGGAGG GAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	242	0.0041	619	c.927 others(636): Show c.927+4533_927+4534insCTCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCTCCCTC CCTCTCTTCCCTCCCCTCTCTTTTTTCGTCCTGTCCGTCCATCCGTCCTT CCTTCCTCCCTCCCTCCTCCTCTCTTTCCTTCCTTTCCTTTCCCTTTGCC TACCCTTCACTTCCCTCCTCCCTTCCTTCCTTCCTTCCTTCCCTTCCTCC CCTTCCCTTCCCCTCCCTTCCCTTCCCTCTTCCCTTTCCCTTCCCTTCCC TTCCCCTTCCCTTCCCTTCCCTTTCCTTCCCTTCCCTTCCCTTCCCCTTC CCTTTCCTTCCCTTTCCCTTTCCCTTCCCTTCCCCTTCCCTTCTTCCCTT CCCCTTCCCTTCCTTCCCTTCCCCTTCCCTTCCTTCCCTTCCCTTCCCTT CCCTTCCCTTTCCCTTCCTTCCCCTTCCCTTCCTTCCCTTTTCTCCCTTT CCCTTCCTTCCTCCTTCCCCTTCCCTTCCCTTCCCCTTCCCTTCCCTTTC CCTTCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCT TTCCCTTCCTTCCCTTCCCTTCCCTTTCTCCCTTCCTTCCC	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGEF3_chr3_56722420_56806949	56731592	C C	CCGGGTTT others(612): Show CCGGGTTTTAAGTTTTCTTTCTTTTTTTTTTTTTTTTTTTTGGTCAAAGT TGCCATTAATTGTTTATTATCATTAAAAATAAATACATATGTTTCACTTC ACATGTGTTACACAGGTGCTTAATATTTTATTAATATAAATGCATAATTC ATTTGCTCTTCACAACCACAAAAACTAGATACATGATTATTCCCATTTTG CAGATAAGGAAACTAACACCCAAGTGAAATACTTTACCAAAGGTCACATA GGTAGTAAGTAACAACTGTGTGATCAGAGGAGAGCATTATCTCCAAACTT CGTGAGAGACACATATAAGCAATTAGTCCCTTACAGACTAAGAAATTTTG ATACAGACAATTTGTTGCAGATTCATAAGATAGTACAGCCAGTTCTGTGA ATCACAGTGTTATATTTATTTCCACATATTCTATATTAATAATATAATTT TTAATTCCATGTATTTTAAGTTTTCATTCAATAACTGCTATAAGTATATG CAGCTCTGAGAACAAGGGGGAAGAGAATAATTTCAGCCATTTAAAAATAG CTTTTATATTTAGATTTAAATATTTCAGTTGCATTTCTTTTTTTTTTTTT TTTTTTTTTTTTTTTACTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0152 a0001c0002t0005g0152	1	358	0.0028	619	c.122 others(636): Show c.1228+645_1228+646insAAAGTAAAAAAAAAAAAAAAAAAAAAAA AAAAAGAAATGCAACTGAAATATTTAAATCTAAATATAAAAGCTATTTTT AAATGGCTGAAATTATTCTCTTCCCCCTTGTTCTCAGAGCTGCATATACT TATAGCAGTTATTGAATGAAAACTTAAAATACATGGAATTAAAAATTATA TTATTAATATAGAATATGTGGAAATAAATATAACACTGTGATTCACAGAA CTGGCTGTACTATCTTATGAATCTGCAACAAATTGTCTGTATCAAAATTT CTTAGTCTGTAAGGGACTAATTGCTTATATGTGTCTCTCACGAAGTTTGG AGATAATGCTCTCCTCTGATCACACAGTTGTTACTTACTACCTATGTGAC CTTTGGTAAAGTATTTCACTTGGGTGTTAGTTTCCTTATCTGCAAAATGG GAATAATCATGTATCTAGTTTTTGTGGTTGTGAAGAGCAAATGAATTATG CATTTATATTAATAAAATATTAAGCACCTGTGTAACACATGTGAAGTGAA ACATATGTATTTATTTTTAATGATAATAAACAATTAATGGCAACTTTGAC CAAAAAAAAAAAAAAAAAAAAGAAAGAAAACTTAAAACCCG	ARHGEF3	ENSG00000163947.12	transcript	ENST00000296315.8	protein_coding	9/9			chr3	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(612): Show AGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCTC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGACAC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGC GGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGT GGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0160 a0001c0002t0010g0160	1	292	0.0034	619	c.207 others(640): Show c.2079+60658_2079+60659insAGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCC CTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCT GGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGAC GGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGAC GGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP10A_chr15_25673712_25868327	25758180	C C	CCACCTGC others(612): Show CCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCG ATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTC ATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAAC TCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCAC CCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCAT TCCGATCACCTGCTCCACCCTCATTCCGATCACCTGCTCCACCCTCATTC CGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAAC TCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCAC CCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCT CCACCCTTACTCATTCTGAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0002 a0002	a0002c0068 a0002c0068	a0002c0068t0001 a0002c0068t0001	a0002c0068t0001g0091 a0002c0068t0001g0091	1	300	0.0033	619	c.655 others(638): Show c.655-22040_655-22039insATCAGAATGAGTAAGGGTGGAGCAGG TGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCA GGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAG CAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGG GTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGA GGGTGGAGCAGGTGATCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGT TAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGA ATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTG ATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAG CAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGG GTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTA GGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGAATG AGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
AZU1_chr19_822837_837018	835499	C C	CCGCAGCC others(612): Show CCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCAC CCCGCAGCCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCA GGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCAGCCCCCTGGCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0011 a0001c0015t0001g0011	1	391	0.0026	619	c.36 others(630): Show c.3622_*3623insCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCAGCCCCCACCCCGCAGCCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAG AGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCAGCCCCCTGGCAGAG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3482		chr19	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(612): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAG CCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCC TGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGG GCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCATCCAGGCCCCGACGC GTGCAGCCCCCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	391	0.0026	619	c.36 others(630): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC AGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCC TGGCAGAGCCAGCCCTGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGA GCCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCA TCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
C17orf67_chr17_56786913_56838920	56792730	A A	ATGATGGT others(612): Show ATGATGGTGATGATGGGGGTGATGGTGATGGTGGTGAGAGTGGTGGTGGG GGTGGTAGTGGTGGAGATGGAGGTAGTGGTGATGGTGACGATGGTAGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGACAGTGATGATGATGGTGAGAGTG GTGGTGGTGGTGGTCATGGTGGTGGTGGTGGTGATGGTAATGATGGGGGT GACGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGGTGATGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGATAGTG ATGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGATGATGGT GGTGATGGTGGTGGTGGTGATGGTGGTGACGGTGATGGTGGTGATGGTGG TGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGATGGTG GTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGATGGT GATGATGGTGGTGATGGTGGTGATGGTGATGGTGATGGTGGCGGTGATGG TGGTGATGGTGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGATG GTGGTGGTGATGGTGATGAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00733.hp1 HG01123.hp1 others(39): Show HG00323.hp1 HG00733.hp1 HG01123.hp1 HG01169.hp2 HG01255.hp1 HG01257.hp2 HG01433.hp2 HG01515.hp1 HG01891.hp1 HG01934.hp2 HG02004.hp2 HG02055.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02622.hp1 HG02698.hp1 HG02723.hp1 HG02895.hp2 HG02897.hp2 HG03017.hp2 HG03098.hp1 HG03490.hp2 HG03654.hp2 HG03831.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp1 NA18942.hp2 NA18944.hp1 NA18962.hp2 NA18971.hp1 NA18983.hp1 NA18988.hp2 NA18999.hp2 NA19000.hp1 NA19091.hp1 NA20300.hp1 NA20752.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0002c0002t0005 a0003c0003t0016 a0002c0002t0002 a0002c0002t0005 a0003c0003t0016	a0002c0002t0002g0008 a0002c0002t0002g0011 a0002c0002t0002g0012 others(26): Show a0002c0002t0002g0008 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0020 a0002c0002t0002g0022 a0002c0002t0002g0075 a0002c0002t0002g0077 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0097 a0002c0002t0002g0113 a0002c0002t0005g0005 a0002c0002t0005g0021 a0002c0002t0005g0088 a0002c0002t0005g0096 a0002c0002t0005g0098 a0003c0003t0016g0078	42	292	0.1438	619	c.21 others(634): Show c.21-379_*21-378insATCATCACCATCACCACCACCATCACCACC ATCACCACCATCATCACCATCACCACCACCACCATCACCACCATCACCGC CACCATCACCATCACCATCACCACCATCACCACCATCATCACCATCACCA CCACCATCACCACCATCATCACCATCACCACCACCATCACCACCATCATC ACCATCACCACCACCACCACCACCACCATCACCATCACCACCACCATCAC CACCATCACCGTCACCACCATCACCACCACCACCATCACCACCATCATCA CCATCACCACCACCATCACCACCACCATCACCACCATCATCACTATCACC ACCATCACCACCATCATCACCACCACCACCACCACCATCACCACCACCAT CACCACCATCACCATCACCACCATCATCACCACCACCGTCACCCCCATCA TTACCATCACCACCACCACCACCATGACCACCACCACCACCACTCTCACC ATCATCATCACTGTCACCACCACCACCACCACCACCACCATCACTACCAT CGTCACCATCACCACTACCTCCATCTCCACCACTACCACCCCCACCACCA CTCTCACCACCATCACCATCACCCCCATCATCACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C17orf67_chr17_56786913_56838920	56792730	A A	ATGATGGT others(612): Show ATGATGGTGATGATGGGGGTGATGGTGATGGTGGTGAGAGTGGTGGTGGG GGTGGTAGTGGTGGAGATGGAGGTAGTGGTGATGGTGACGATGGTAGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGACAGTGATGATGATGGTGAGAGTG GTGGTGGTGGTGGTCTTGGTGGTGGTGGTGGTGATGGTAATGATGGGGGT GACGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGGTGATGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGATAGTG ATGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGATGATGGT GGTGATGGTGGTGGTGGTGATGGTGGTGACGGTGATGGTGGTGATGGTGG TGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGATGGTG GTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGATGGT GATGATGGTGGTGATGGTGGTGATGGTGATGGTGATGGTGGCGGTGATGG TGGTGATGGTGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGATG GTGGTGGTGATGGTGATGAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0120 a0002c0002t0002g0120	1	292	0.0034	619	c.21 others(634): Show c.21-379_*21-378insATCATCACCATCACCACCACCATCACCACC ATCACCACCATCATCACCATCACCACCACCACCATCACCACCATCACCGC CACCATCACCATCACCATCACCACCATCACCACCATCATCACCATCACCA CCACCATCACCACCATCATCACCATCACCACCACCATCACCACCATCATC ACCATCACCACCACCACCACCACCACCATCACCATCACCACCACCATCAC CACCATCACCGTCACCACCATCACCACCACCACCATCACCACCATCATCA CCATCACCACCACCATCACCACCACCATCACCACCATCATCACTATCACC ACCATCACCACCATCATCACCACCACCACCACCACCATCACCACCACCAT CACCACCATCACCATCACCACCATCATCACCACCACCGTCACCCCCATCA TTACCATCACCACCACCACCACCAAGACCACCACCACCACCACTCTCACC ATCATCATCACTGTCACCACCACCACCACCACCACCACCATCACTACCAT CGTCACCATCACCACTACCTCCATCTCCACCACTACCACCCCCACCACCA CTCTCACCACCATCACCATCACCCCCATCATCACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C2CD4C_chr19_400445_414147	404677	A A	ATGGGGTC others(612): Show ATGGGGTCCTGCCCTGAGGGGTCTGAGGGGGTACGGGGTCCTGCCTTGAG GGGTGTGGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGG GTCCTGCCCTGAGGGGTCTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGT CTGAGGGGGTACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGAACGGGG TCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTG TGGGGGGGGGATGGGGTCCTGCCCTGAGGGGTCTGAGGGGGTACGGGGTC CTGCCTTGAGGGGTGTGGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGG AGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCT GCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGA GGGGGGATGGGGTCCTGCCCTGAGGGGTCTGAGGGGGTACGGGGTCCTGC CCTGAGGGGTGTGGAGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGAGGG GGGGACGGGGTCCTGTCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCT GAGGGGTGTGGAGGGGGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0029 a0001c0001t0012g0029	1	322	0.0031	619	c.24 others(630): Show c.2418_*2419insATCCCCCCTCCACACCCCTCAGGGCAGGACCCCG TCCCCCCCACACCCCTCAGGACAGGACCCCGTCCCCCCCTCACACCCCTC AGGGCAGGACCCCGTCCCCCCTCCACACCCCTCAGGGCAGGACCCCGTAC CCCCTCAGACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCCCTCAG GGCAGGACCCCATCCCCCCTCCACACCCCTCAGGGCAGGACCCCATCCCC CCTCCACACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCCCTCAGG GCAGGACCCCGTTCCCCCCCACACCCCTCAAGGCAGGACCCCGTACCCCC TCAGACCCCTCAGGGCAGGACCCCATCCCCCCCCCACACCCCTCAGGGCA GGACCCCATCCCCCCTCCACACCCCTCAGGGCAGGACCCCGTTCCCCCCT CCACACCCCTCAGGGCAGGACCCCGTACCCCCTCAGACCCCTCAGGGCAG GACCCCGTCCCCCCCTCAGACCCCTCAGGGCAGGACCCCGTCCCCCCCAC ACCCCTCAGGGCAGGACCCCGTTCCCCCCCACACCCCTCAAGGCAGGACC CCGTACCCCCTCAGACCCCTCAGGGCAGGACCCCA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		767		chr19	TogoVar
CADM2_chr3_84953989_86079429	85818864	C C	CAAGGTTC others(612): Show CAAGGTTCTCGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGA CCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCT GCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATA GCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAA GAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATG ATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATT CTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACT CATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATA TCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGTAT TGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCA GCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTA CCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0025 a0001c0003t0006g0025	1	146	0.0069	619	c.238 others(638): Show c.238+16677_238+16678insGGCGATTCCTCAGGGATCTAGAACTA GAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGA GTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGG CACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATG ATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGC AGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAAT TGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACAC CGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACA CAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGG GGGAGGGATAGTATTGGGAGATATACCTAATGCTAGATGACACATTAGTG GGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCAC AATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTTCTC	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CAMKK2_chr12_121232692_121301709	121255235	T T	TATATATA others(612): Show TATATATATATAATTATATATATAATTTTATATATATATAATTATATATA TAATTTTATATATATAATTATATATATTTATATATATATAATTATATATA TATATAAAATTATATATATAATTATATATATTATATATAATTATATATAT AATTTTATATATATAATTATATATATTTATATATATATATAATTATATAT ATATATAAAATTATATATATAATTATATATATATTATATATAATTATATA TATATATTATATATAATTTTATATATATAATTATATATATAATTTTATAT ATATAATTTTATATATATAATTTTATATATATAATTTTATATATATAATT ATATATATAATTTTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATAATTTTAT ATATATATAATTATATATATAATTTTATATATATATAATTATATATATAA TTATATATATAATTTTATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATAATTATATATATAATTTTATAT ATATATAATTATATATATAA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA19011.hp1 NA19011.hp2 NA18947.hp1 NA19011.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0192 a0001c0001t0001g0226 a0001c0001t0001g0172 a0001c0001t0001g0192 a0001c0001t0001g0226	3	330	0.0091	619	c.907 others(634): Show c.907+314_907+315insTTATATATATAATTATATATATATAAAATT ATATATATAATTATATATATAAAATTATATATATAATTATATATATATAA AATTATATATATAATTATATATATAAAATTATATATATAATTATATATAT AATTATATATATATAAAATTATATATATAATTATATATATATAAAATTAT ATATATAATTATATATATATAAAATTATATATATAATTATATATATATAA AATTATATATATAATTATATATATATAAAATTATATATATAATTATATAT ATAAAATTATATATATAAAATTATATATATAAAATTATATATATAAAATT ATATATATAATTATATATATAAAATTATATATAATATATATATATAATTA TATATAATATATATATAATTATATATATAATTTTATATATATATATAATT ATATATATATATAAATATATATAATTATATATATAAAATTATATATATAA TTATATATAATATATATAATTATATATATAATTTTATATATATATATAAT TATATATATATAAATATATATAATTATATATATAAAATTATATATATAAT TATATATATATAAAATTATATATATAATTATATATATAT	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(612): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGG CTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGG GGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCA GGTGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGT GGGGGAAGGGTGTGGGTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGGG GTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGGG GAAGGGTGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGGGG TGTGGGTGGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGTGGGG TGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	284	0.0035	619	c.712 others(636): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCC CACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCC CTCCCACCCCACCCCACCCCTCCCCACCCACACCCTTCCCCCACCCCACC CCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACCCT TCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTCC ACCCCACCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCACCC ATACCCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACACCCT TCCCCCACCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCCCA CCCCACCCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAACC CTCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCCAC CCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(612): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGG CTGGGGAGGGGTGGGGTGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGGG GCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCAG GTGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGTG GGGGAAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGGG GTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGGG GAAGGGTGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGGGG TGTGGGTGGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGTGGGG TGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	284	0.0035	619	c.712 others(636): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCC CACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCC CTCCCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCAC CCCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACCC TTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTC CACCCCACCCCTCCCCCTCCCACCCACCCCACCCCTCCCCAGCCCCACCC ATACCCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACACCCT TCCCCCACCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCCCA CCCCACCCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAACC CTCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCCAC CCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CFAP61_chr20_20047532_20365698	20356953	T T	TACTGTGA others(612): Show TACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAAGTGGTCACACTGAGG GGAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAG TCACACTGAGGGGAGGGGGTCATACTGCGAGTGGAGGTAGTCACACTGTG AAGGGTGATAGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGT CACACTGAGGGGAGGTGGTCATACTGTGAGGGGAAGTGGTCACACTGAGG GGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTC ACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGG GAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCA CAGTGTGAGGGGAGATGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGG GGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTC ACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGG GAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCA CACTGAGGGGAGGTGGTCAC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0003 a0011c0018t0003	a0011c0018t0003g0122 a0011c0018t0003g0122	1	236	0.0042	619	c.351 others(638): Show c.3514-3256_3514-3255insCTGTGAGTGAGGAGGTAGTCACACTG AGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGT CATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAGGGGGTCATACTGC GAGTGGAGGTAGTCACACTGTGAAGGGTGATAGTCACACTGAGAGGAGGT GGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATACTGTG AGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTG GTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGA GGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGG TCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCACACTGAG GGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGT CACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGG GGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTC ACAGTGTGAGGGGAGATGGTCACACTGAGGGGAGGTGGTCACA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20356957	G G	GTGAGTGA others(612): Show GTGAGTGAGGAGGTAGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAG GTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCAC ACTGAGGGGAGGTGGTCATACTGCGAGTGGAGGTAGTCACACTGTGAAGG GTGGTAGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACA CTGAGGGGAGGTGGTCATACTGTGAGGGGAAGTGGTCACACTGAGGGGAG GTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAG TGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGA GGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACA CTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCACACTGAGGGGAG GTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAG TGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGG TGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGT GTGAGGGGAGATGGTCACAC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18969.hp1 NA18955.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0186 a0002c0002t0004g0012 a0002c0002t0001g0186 a0002c0002t0004g0012	2	236	0.0085	619	c.351 others(638): Show c.3514-3249_3514-3248insTGAGGAGGTAGTCACACTGAGGGGAA GTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTG TGAGTGAGGAGGTAGTCACACTGAGGGGAGGTGGTCATACTGCGAGTGGA GGTAGTCACACTGTGAAGGGTGGTAGTCACACTGAGAGGAGGTGGTCACA CTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGGGGAA GTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGG TGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGT GTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAG ATGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACT GAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCACACTGAG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHODL_chr21_18239833_18272370	18251534	A A	ATAAAATA others(612): Show ATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTAATATA TAAAATAAATATTTATTTTAATATTAAAATAAATATTTATTTTATATATA AAATAAATATTTATTTAATATATAAAATAAATATTTATTTTAATATATAA AATAAATATTTATTTTAATATATAAAATATTTATTTTAATATATAAAATA AATATTTATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATA TTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATA TTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATA TTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATA TTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATA TTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATA TTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATA TTTATTTTAATATATTAAAATAAATATTTATTTTATTTATTTATTTTAAT ATATAAAATATTTTATTTAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	402	0.0025	619	c.80- others(634): Show c.80-4974_80-4973insAAAATAAATATTTATTTTAATATATAAAAT AAATATTTATTTAATATATAAAATAAATATTTATTTTAATATTAAAATAA ATATTTATTTTATATATAAAATAAATATTTATTTAATATATAAAATAAAT ATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTT ATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATT TTATTTATTTATTTTAATATATAAAATATTTTATTTATT	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CNTN6_chr3_1088024_1409217	1245282	C C	CATATATA others(612): Show CATATATATAATATATATAATATATATATAACATATATATAATATATATA ATATATATATAACATATATATAATATATATATAATATATATAATATATAT ATAACATATATATAATATATATAACATATATAATATATATAACATATATA TATAATATATATATAACATATATATATAATATATATATAACATATATATA TAATATATATATAACATATATATAATATATATATAACATATATATAATAT ATATAACATATATATAATATATATATAACATATATATATTATATATATAA CATATATATAATATATATATAACATTTATAATATATATATAACATATATA TAATATATATATAACATATATATATTATATATATAACATATATATATTAT ATATATATAACATATATATAATATATATAACATATATATATAATATATAT ATAACATATATATATAATATATATATAACATATATATATAATATATATAT AACATATATATATAATATATATATAACATATATATTATATATATAACATA TATATTATATATATAACATATATATTATATATATAACATATATATAATAT ATATATAACATATATATATA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0064 a0001c0003t0001g0064	1	232	0.0043	619	c.358 others(638): Show c.358+17298_358+17299insATATATATAATATATATATAACATAT ATATAATATATATAATATATATATAACATATATATAATATATATATAATA TATATAATATATATATAACATATATATAATATATATAACATATATAATAT ATATAACATATATATATAATATATATATAACATATATATATAATATATAT ATAACATATATATATAATATATATATAACATATATATAATATATATATAA CATATATATAATATATATAACATATATATAATATATATATAACATATATA TATTATATATATAACATATATATAATATATATATAACATTTATAATATAT ATATAACATATATATAATATATATATAACATATATATATTATATATATAA CATATATATATTATATATATATAACATATATATAATATATATAACATATA TATATAATATATATATAACATATATATATAATATATATATAACATATATA TATAATATATATATAACATATATATATAATATATATATAACATATATATT ATATATATAACATATATATTATATATATAACATATATATTATATATATAA CATATATATAATATATATATAACATATATATATAATATATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CRTC3_chr15_90524923_90650345	90647272	T T	TCCACAAT others(612): Show TCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCT CCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCC CTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACAC CCCTCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTC CTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCA CAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTC CTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCC TCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACC CCTCCTCCTCAATCCTCCTCCACACCCCTCCTCAATCCTCCTCCACACCC CTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCA CACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTC CACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCACTCCTCC TCCACACCCCTCCTCCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0120 a0001c0001t0007g0120	1	276	0.0036	619	c.51 others(630): Show c.5132_*5133insCCACAATCCTCCTCCACACCCCTCCTCCTCAATC CTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAA TCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTC AATCCTCCTCCACACCCCTCCTCCTCCTCAATCCTCCTCCACACCCCTCC TCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCAC ACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCC TCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCT CCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCA ATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCAA TCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTC CTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCC TCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCT CCTCCTCACTCCTCCTCCACACCCCTCCTCCTCCA	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1928		chr15	TogoVar
DNAH5_chr5_13685328_13949688	13827485	A A	ACAGGAGC others(612): Show ACAGGAGCCAGCATATAGCTCAGGCCATTGCTTCAAAGGGTGCAAGCCCC AAGCTCTGACAGTTTCCACATGGTGCTGGGCCTGCAGGTGTGCAGAAGAC AAGAATTGAGGTTTGGGAACCTCCACCTAGATTTCAGAGGATGTATGGAA ACACCAAGATGTCCAGGCAGAAGTTTCCTGCGTGGGTGGAGCCCTCATGG AGAACCTCTGCTAGAGCAGTGCAGAAGGGAAATGTGGGATTGGAGCCCCC ACACAGAGTCCCCACTGAGACACTGCCTAATGGAGCTGTGAGAAAAGGAC CACCATCCTTCAGATGCCAGAATGGTAGATCCACTGACAGCTTGTACTGT GCACCTAGAAAAGCCACAGACACTCAACATCAGGCCATGAAAGCAGCCAG GAGCGTGGCTGTACCCTGAAAAGCCACAGGCGTGGAGCTGCCCAAGGCTT TAGGAGCCCACCTCTTGCATCAGCAGGTCTGGATGTGAGACATGGAGTCA AAGCAGATCATTTTGGAAATTTAAGGTTTAATTACTGCCTTATTGAATTT TGGACTTGCATGAGGCCTGTAGCCTCTTTGTTTTGGCCAATTTCTCCCAT TTGGAACAGGTATATTTACC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01069.hp1 HG01069.hp2 others(51): Show HG00609.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01168.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01978.hp1 HG02132.hp1 HG02258.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02572.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03831.hp2 HG03927.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18939.hp2 NA18944.hp1 NA18960.hp1 NA18966.hp1 NA18984.hp2 NA18993.hp1 NA19002.hp2 NA19240.hp1 NA20129.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0004 a0005 a0007 others(32): Show a0004 a0005 a0007 a0008 a0009 a0012 a0013 a0014 a0018 a0019 a0024 a0025 a0027 a0036 a0037 a0053 a0059 a0064 a0071 a0082 a0084 a0085 a0087 a0094 a0098 a0099 a0102 a0105 a0106 a0119 a0120 a0128 a0130 a0136 a0141	a0004c0121 a0005c0019 a0005c0081 others(45): Show a0004c0121 a0005c0019 a0005c0081 a0007c0068 a0007c0069 a0008c0063 a0008c0065 a0009c0170 a0009c0171 a0012c0084 a0013c0004 a0013c0117 a0014c0131 a0014c0132 a0014c0166 a0018c0017 a0018c0090 a0019c0018 a0019c0089 a0024c0045 a0024c0108 a0024c0111 a0025c0067 a0027c0147 a0027c0148 a0036c0030 a0037c0183 a0037c0184 a0053c0195 a0059c0037 a0064c0085 a0071c0083 a0082c0109 a0084c0047 a0085c0046 a0087c0050 a0094c0066 a0098c0122 a0099c0055 a0102c0062 a0105c0064 a0106c0103 a0119c0149 a0120c0150 a0128c0165 a0130c0141 a0136c0142 a0141c0192	a0004c0121t0001 a0005c0019t0001 a0005c0081t0001 others(46): Show a0004c0121t0001 a0005c0019t0001 a0005c0081t0001 a0007c0068t0001 a0007c0069t0001 a0008c0063t0006 a0008c0065t0002 a0009c0170t0002 a0009c0171t0020 a0012c0084t0001 a0013c0004t0001 a0013c0117t0001 a0014c0131t0005 a0014c0132t0001 a0014c0166t0002 a0018c0017t0001 a0018c0090t0001 a0019c0018t0002 a0019c0018t0003 a0019c0089t0002 a0024c0045t0001 a0024c0108t0001 a0024c0111t0007 a0025c0067t0009 a0027c0147t0006 a0027c0148t0001 a0036c0030t0002 a0037c0183t0002 a0037c0184t0002 a0053c0195t0001 a0059c0037t0011 a0064c0085t0018 a0071c0083t0001 a0082c0109t0002 a0084c0047t0004 a0085c0046t0003 a0087c0050t0008 a0094c0066t0001 a0098c0122t0001 a0099c0055t0003 a0102c0062t0002 a0105c0064t0001 a0106c0103t0002 a0119c0149t0022 a0120c0150t0002 a0128c0165t0001 a0130c0141t0002 a0136c0142t0002 a0141c0192t0001	a0004c0121t0001g0093 a0005c0019t0001g0057 a0005c0019t0001g0077 others(51): Show a0004c0121t0001g0093 a0005c0019t0001g0057 a0005c0019t0001g0077 a0005c0081t0001g0064 a0007c0068t0001g0156 a0007c0069t0001g0154 a0008c0063t0006g0151 a0008c0065t0002g0016 a0009c0170t0002g0115 a0009c0171t0020g0176 a0012c0084t0001g0059 a0013c0004t0001g0089 a0013c0004t0001g0090 a0013c0004t0001g0111 a0013c0117t0001g0105 a0014c0131t0005g0011 a0014c0132t0001g0192 a0014c0166t0002g0117 a0018c0017t0001g0071 a0018c0017t0001g0073 a0018c0090t0001g0068 a0019c0018t0002g0085 a0019c0018t0003g0246 a0019c0089t0002g0103 a0024c0045t0001g0060 a0024c0108t0001g0035 a0024c0111t0007g0008 a0025c0067t0009g0155 a0027c0147t0006g0188 a0027c0148t0001g0189 a0036c0030t0002g0136 a0036c0030t0002g0137 a0037c0183t0002g0140 a0037c0184t0002g0135 a0053c0195t0001g0223 a0059c0037t0011g0006 a0064c0085t0018g0062 a0071c0083t0001g0153 a0082c0109t0002g0034 a0084c0047t0004g0236 a0085c0046t0003g0235 a0087c0050t0008g0099 a0094c0066t0001g0150 a0098c0122t0001g0092 a0099c0055t0003g0243 a0102c0062t0002g0017 a0105c0064t0001g0021 a0106c0103t0002g0145 a0119c0149t0022g0232 a0120c0150t0002g0182 a0128c0165t0001g0122 a0130c0141t0002g0134 a0136c0142t0002g0144 a0141c0192t0001g0026	54	252	0.2143	619	c.644 others(638): Show c.6444+2024_6444+2025insGGTAAATATACCTGTTCCAAATGGGA GAAATTGGCCAAAACAAAGAGGCTACAGGCCTCATGCAAGTCCAAAATTC AATAAGGCAGTAATTAAACCTTAAATTTCCAAAATGATCTGCTTTGACTC CATGTCTCACATCCAGACCTGCTGATGCAAGAGGTGGGCTCCTAAAGCCT TGGGCAGCTCCACGCCTGTGGCTTTTCAGGGTACAGCCACGCTCCTGGCT GCTTTCATGGCCTGATGTTGAGTGTCTGTGGCTTTTCTAGGTGCACAGTA CAAGCTGTCAGTGGATCTACCATTCTGGCATCTGAAGGATGGTGGTCCTT TTCTCACAGCTCCATTAGGCAGTGTCTCAGTGGGGACTCTGTGTGGGGGC TCCAATCCCACATTTCCCTTCTGCACTGCTCTAGCAGAGGTTCTCCATGA GGGCTCCACCCACGCAGGAAACTTCTGCCTGGACATCTTGGTGTTTCCAT ACATCCTCTGAAATCTAGGTGGAGGTTCCCAAACCTCAATTCTTGTCTTC TGCACACCTGCAGGCCCAGCACCATGTGGAAACTGTCAGAGCTTGGGGCT TGCACCCTTTGAAGCAATGGCCTGAGCTATATGCTGGCTCCTG	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	38/78			chr5	TogoVar
DNAH5_chr5_13685328_13949688	13827485	A A	ACAGGAGC others(612): Show ACAGGAGCCAGCATATAGCTCAGGCCATTGCTTCAAAGGGTGCAAGCCCC AAGCTCTGACAGTTTCCACATGGTGCTGGGCCTGCAGGTGTGCAGAAGAC AAGAATTGAGGTTTGGGAACCTCCACCTAGATTTCAGAGGATGTATGGAA ACACCAAGATGTCCAGGCAGAAGTTTCCTGCGTGGGTGGAGCCCTCATGG AGAACCTCTGCTAGAGCAGTGCAGAAGGGAGATGTGGGATTGGAGCCCCC ACACAGAGTCCCCACTGAGACACTGCCTAATGGAGCTGTGAGAAAAGGAC CACCATCCTTCAGATGCCAGAATGGTAGATCCACTGACAGCTTGTACTGT GCACCTAGAAAAGCCACAGACACTCAACATCAGGCCATGAAAGCAGCCAG GAGCGTGGCTGTACCCTGAAAAGCCACAGGCGTGGAGCTGCCCAAGGCTT TAGGAGCCCACCTCTTGCATCAGCAGGTCTGGATGTGAGACATGGAGTCA AAGCAGATCATTTTGGAAATTTAAGGTTTAATTACTGCCTTATTGAATTT TGGACTTGCATGAGGCCTGTAGCCTCTTTGTTTTGGCCAATTTCTCCCAT TTGGAACAGGTATATTTACC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02895.hp2 NA18522.hp1 HG00733.hp1 HG02895.hp2 NA18522.hp1	a0052 a0108 a0109 a0052 a0108 a0109	a0052c0197 a0108c0042 a0109c0124 a0052c0197 a0108c0042 a0109c0124	a0052c0197t0014 a0108c0042t0001 a0109c0124t0005 a0052c0197t0014 a0108c0042t0001 a0109c0124t0005	a0052c0197t0014g0224 a0108c0042t0001g0069 a0109c0124t0005g0009 a0052c0197t0014g0224 a0108c0042t0001g0069 a0109c0124t0005g0009	3	252	0.0119	619	c.644 others(638): Show c.6444+2024_6444+2025insGGTAAATATACCTGTTCCAAATGGGA GAAATTGGCCAAAACAAAGAGGCTACAGGCCTCATGCAAGTCCAAAATTC AATAAGGCAGTAATTAAACCTTAAATTTCCAAAATGATCTGCTTTGACTC CATGTCTCACATCCAGACCTGCTGATGCAAGAGGTGGGCTCCTAAAGCCT TGGGCAGCTCCACGCCTGTGGCTTTTCAGGGTACAGCCACGCTCCTGGCT GCTTTCATGGCCTGATGTTGAGTGTCTGTGGCTTTTCTAGGTGCACAGTA CAAGCTGTCAGTGGATCTACCATTCTGGCATCTGAAGGATGGTGGTCCTT TTCTCACAGCTCCATTAGGCAGTGTCTCAGTGGGGACTCTGTGTGGGGGC TCCAATCCCACATCTCCCTTCTGCACTGCTCTAGCAGAGGTTCTCCATGA GGGCTCCACCCACGCAGGAAACTTCTGCCTGGACATCTTGGTGTTTCCAT ACATCCTCTGAAATCTAGGTGGAGGTTCCCAAACCTCAATTCTTGTCTTC TGCACACCTGCAGGCCCAGCACCATGTGGAAACTGTCAGAGCTTGGGGCT TGCACCCTTTGAAGCAATGGCCTGAGCTATATGCTGGCTCCTG	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	38/78			chr5	TogoVar
F5_chr1_169506951_169591481	169555633	T T	TCAACCAT others(612): Show TCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAG AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAG TATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGC ACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGA TAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGG GGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGG GTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACA ATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAATAAATAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02486.hp1 HG02630.hp2 others(4): Show HG01109.hp1 HG02486.hp1 HG02630.hp2 HG03041.hp2 HG03579.hp2 NA19030.hp2 NA19089.hp2	a0009 a0011 a0013 others(1): Show a0009 a0011 a0013 a0039	a0009c0016 a0009c0030 a0011c0017 others(3): Show a0009c0016 a0009c0030 a0011c0017 a0011c0036 a0013c0039 a0039c0048	a0009c0016t0003 a0009c0030t0001 a0011c0017t0004 others(3): Show a0009c0016t0003 a0009c0030t0001 a0011c0017t0004 a0011c0036t0003 a0013c0039t0001 a0039c0048t0016	a0009c0016t0003g0056 a0009c0016t0003g0065 a0009c0030t0001g0059 others(4): Show a0009c0016t0003g0056 a0009c0016t0003g0065 a0009c0030t0001g0059 a0011c0017t0004g0060 a0011c0036t0003g0286 a0013c0039t0001g0127 a0039c0048t0016g0073	7	306	0.0229	619	c.953 others(634): Show c.953-287_953-286insTTTTTTTTTTTTTTTTTTTTTTATTTATTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGG ACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAA ACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGG TATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAG ATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTG	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F5_chr1_169506951_169591481	169555633	T T	TCAACCAT others(612): Show TCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAG AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAG TATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGC ACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGA TAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGG GGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGG GTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACA ATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAATAAATAA ATAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG02559.hp2 others(9): Show HG02280.hp1 HG02559.hp1 HG02559.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03540.hp2 NA18906.hp2 NA19030.hp1	a0002 a0004 a0007 others(6): Show a0002 a0004 a0007 a0010 a0011 a0012 a0016 a0037 a0040	a0002c0019 a0004c0050 a0007c0013 others(6): Show a0002c0019 a0004c0050 a0007c0013 a0010c0012 a0011c0017 a0012c0024 a0016c0035 a0037c0046 a0040c0049	a0002c0019t0001 a0004c0050t0003 a0007c0013t0002 others(6): Show a0002c0019t0001 a0004c0050t0003 a0007c0013t0002 a0010c0012t0002 a0011c0017t0004 a0012c0024t0007 a0016c0035t0004 a0037c0046t0008 a0040c0049t0001	a0002c0019t0001g0284 a0004c0050t0003g0279 a0007c0013t0002g0278 others(8): Show a0002c0019t0001g0284 a0004c0050t0003g0279 a0007c0013t0002g0278 a0010c0012t0002g0037 a0011c0017t0004g0002 a0011c0017t0004g0066 a0011c0017t0004g0068 a0012c0024t0007g0067 a0016c0035t0004g0070 a0037c0046t0008g0291 a0040c0049t0001g0036	12	306	0.0392	619	c.953 others(634): Show c.953-287_953-286insTTTTTTTTTTTTTTTTTTATTTATTTATTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGG ACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAA ACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGG TATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAG ATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTG	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F5_chr1_169506951_169591481	169555633	T T	TCAACCAT others(612): Show TCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAG AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAG TATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGC ACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGA TAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGG GGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGG GTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACA ATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAATAAATAA ATAAATAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02818.hp2 NA18522.hp2 HG01884.hp1 HG02818.hp2 NA18522.hp2	a0005 a0007 a0029 a0005 a0007 a0029	a0005c0006 a0007c0013 a0029c0052 a0005c0006 a0007c0013 a0029c0052	a0005c0006t0001 a0007c0013t0006 a0029c0052t0002 a0005c0006t0001 a0007c0013t0006 a0029c0052t0002	a0005c0006t0001g0280 a0007c0013t0006g0283 a0029c0052t0002g0281 a0005c0006t0001g0280 a0007c0013t0006g0283 a0029c0052t0002g0281	3	306	0.0098	619	c.953 others(634): Show c.953-287_953-286insTTTTTTTTTTTTTTATTTATTTATTTATTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGG ACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAA ACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGG TATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAG ATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTG	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F5_chr1_169506951_169591481	169555633	T T	TCAACCAT others(612): Show TCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAG AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAG TATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGC ACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGA TAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGG GGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGG GTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACA ATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAATAAATAAATAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0012 a0012	a0012c0024 a0012c0024	a0012c0024t0012 a0012c0024t0012	a0012c0024t0012g0044 a0012c0024t0012g0044	1	306	0.0033	619	c.953 others(634): Show c.953-287_953-286insTTTTTTTTTTTTTTTTTTTTTTATTTATTT ATTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGG ACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAA ACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGG TATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAG ATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTG	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
HEATR5A_chr14_31286788_31425550	31390861	G G	GTTAACTA others(612): Show GTTAACTACAAAACAGCTTCAGGTAGGCCCTTTAGGAAGTATTCTAGAAC AAGGCATCGCTATTACAGGAGATAACAGCTCCATGCGTGTCACTGCCCTT GAAGACCATCCAGTGGGACAAGATACTAAGGTGAAAGACAGTGAGATTGA TGGTTCTGACTCTGTGTAGGCCTGGGCTAATGTGTGTGTTTAAAAGTTAA AAAAAATTTTTTTAATAGAAAAAAGCTTATAGAACAAGGATACAAGGATA TAAAGAAAATATTTTTGTAGAGCTGTACAATGTATCTACGTTTTAAGCTA AATGTTACTATTATTTCTAGAGCAGTGGCAGGATCTCAACTCACTGAAAC CTCTGCCTCCCATGTTAAAGGGTTCAAGTGATTCTCATGCCTCAGCCTCC CAAGCAGCTGGAACTACAGGCACATGCCACCACGTCCCGCTAATTTTTGC ATTTTTAGTAGACAGATGAGGTTTCCCCATCTTGGCCAGGCTGGTCTTGA ACTCCTGACTTCAAGCAATCCATCCGCCTTGGCCTCCCAAAGTGCTGGGA TTACAAGCATGAGCCACTGCACCTGGCCCCTAAATGTTATTATAAAAATA TTCAAAGGAATCAAAGCTGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG03209.hp2 others(1): Show HG02109.hp1 HG02145.hp1 HG03209.hp2 HG03540.hp1	a0011 a0029 a0011 a0029	a0011c0013 a0029c0023 a0011c0013 a0029c0023	a0011c0013t0012 a0029c0023t0022 a0011c0013t0012 a0029c0023t0022	a0011c0013t0012g0335 a0011c0013t0012g0336 a0011c0013t0012g0337 others(1): Show a0011c0013t0012g0335 a0011c0013t0012g0336 a0011c0013t0012g0337 a0029c0023t0022g0338	4	354	0.0113	619	c.773 others(636): Show c.773-1857_773-1856insACAGCTTTGATTCCTTTGAATATTTTTA TAATAACATTTAGGGGCCAGGTGCAGTGGCTCATGCTTGTAATCCCAGCA CTTTGGGAGGCCAAGGCGGATGGATTGCTTGAAGTCAGGAGTTCAAGACC AGCCTGGCCAAGATGGGGAAACCTCATCTGTCTACTAAAAATGCAAAAAT TAGCGGGACGTGGTGGCATGTGCCTGTAGTTCCAGCTGCTTGGGAGGCTG AGGCATGAGAATCACTTGAACCCTTTAACATGGGAGGCAGAGGTTTCAGT GAGTTGAGATCCTGCCACTGCTCTAGAAATAATAGTAACATTTAGCTTAA AACGTAGATACATTGTACAGCTCTACAAAAATATTTTCTTTATATCCTTG TATCCTTGTTCTATAAGCTTTTTTCTATTAAAAAAATTTTTTTTAACTTT TAAACACACACATTAGCCCAGGCCTACACAGAGTCAGAACCATCAATCTC ACTGTCTTTCACCTTAGTATCTTGTCCCACTGGATGGTCTTCAAGGGCAG TGACACGCATGGAGCTGTTATCTCCTGTAATAGCGATGCCTTGTTCTAGA ATACTTCCTAAAGGGCCTACCTGAAGCTGTTTTGTAGTTAA	HEATR5A	ENSG00000129493.15	transcript	ENST00000543095.7	protein_coding	6/35			chr14	TogoVar
IFFO2_chr1_18899280_18961676	18926017	A A	ATGGATGG others(612): Show ATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGA TGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGTTGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGAT GGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATG GTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGG ATGGATTGGTTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATTGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGTTGGA TGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATTGGT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0192 a0001c0001t0006g0192	1	376	0.0027	619	c.666 others(636): Show c.666-4897_666-4896insACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAACCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCAATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCAT CCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATC CATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCAATCCATCCATCCATCCATCCATCCAACCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCA TCCAACCATCCATCCATCCATCCAACCAATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TAATATAT others(612): Show TAATATATATATGGAATATATACGGAATATATATATAATATATATGGAAT ATATATATACGGAATATATATAATATATATACGGAATATATATATACGGA ATATATATAATATATATACGGAATATATATATAATATATATATAATATAT ATACGGAATATATATATAATATATAAATGGAATATATATACGGAATATAT ATATAATATATAAATGGAATATATATATACGGAATATATATATAATATAT AAATGGAATATATATATACGGAATATATATATAATATATATATGGAATAT ATATATACGGAATATATATATAATATATATATGGAATATATATATACGGA ATATATATATAATATATATATGGAATATATATATACGGAATATATATATT ATATATATGGAATATATATATACGGAATATATATATAATATATATATGGA ATATATATACGGAATATATATATATGGATATATATACGGAATATATATAT ATGGAATATATATATATGGAATGTGTATATATGGAATATATATATATGGA ATGTGTATATATGGAATATATATATATGGAATGTGTATATATGGAATATA TATATGGAATATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	323	0.0031	619	c.-21 others(630): Show c.-2147_-2146insAATATATATATGGAATATATACGGAATATATATA TAATATATATGGAATATATATATACGGAATATATATAATATATATACGGA ATATATATATACGGAATATATATAATATATATACGGAATATATATATAAT ATATATATAATATATATACGGAATATATATATAATATATAAATGGAATAT ATATACGGAATATATATATAATATATAAATGGAATATATATATACGGAAT ATATATATAATATATAAATGGAATATATATATACGGAATATATATATAAT ATATATATGGAATATATATATACGGAATATATATATAATATATATATGGA ATATATATATACGGAATATATATATAATATATATATGGAATATATATATA CGGAATATATATATTATATATATGGAATATATATATACGGAATATATATA TAATATATATATGGAATATATATACGGAATATATATATATGGATATATAT ACGGAATATATATATATGGAATATATATATATGGAATGTGTATATATGGA ATATATATATATGGAATGTGTATATATGGAATATATATATATGGAATGTG TATATATGGAATATATATATGGAATATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323249	A A	ATATATAT others(612): Show ATATATATATATGGAATATATATACATGGAATATATACATGGAATATATA TACATGGAATATATATACATGGAATATATATACATGGAATATATATACAT GGAATATATATACATGGAATATATATACATGGAATATATATACATGGAAT ATATATACATGGAATATATACATGGAATATATATACATGGAATATATACA TGGAATATATATACATGGAATATATACATGGAATATATACATGGAATATA TATACATGGAATGTATACATGGAATATATATACATGGAATGTATACATGG AATATATATATGGAATGTATACATATGGAATATATATATATGGAATGTAT ACATATGGAATATATATATGGAATGTATACATATGGAATATATATATGGA ATGTATACATATGGAATATATATATGGAATGTATACATATGGAATATATA TATGGAATGTATATATATGGAATATATATATGGAATGTATATATATGGAG TATATATATGGAATGTATATATATGGAATGTATATATATGGAATGTATAT ATATGGAATGTATATATATGGAATGTATATATATGGAATGTATATATATG GAATGTATATATATGGAATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0241 a0001c0001t0027g0241	1	323	0.0031	619	c.-18 others(630): Show c.-1807_-1806insTATATATATATGGAATATATATACATGGAATATA TACATGGAATATATATACATGGAATATATATACATGGAATATATATACAT GGAATATATATACATGGAATATATATACATGGAATATATATACATGGAAT ATATATACATGGAATATATATACATGGAATATATACATGGAATATATATA CATGGAATATATACATGGAATATATATACATGGAATATATACATGGAATA TATACATGGAATATATATACATGGAATGTATACATGGAATATATATACAT GGAATGTATACATGGAATATATATATGGAATGTATACATATGGAATATAT ATATATGGAATGTATACATATGGAATATATATATGGAATGTATACATATG GAATATATATATGGAATGTATACATATGGAATATATATATGGAATGTATA CATATGGAATATATATATGGAATGTATATATATGGAATATATATATGGAA TGTATATATATGGAGTATATATATGGAATGTATATATATGGAATGTATAT ATATGGAATGTATATATATGGAATGTATATATATGGAATGTATATATATG GAATGTATATATATGGAATGTATATATATGGAATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1720		chr21	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(612): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGT GGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCAGGGGGGAGGCG GGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC GGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGC GGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGG GGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC GGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGC GGGGCTCGGGGGGAGGCGGG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0004 a0001c0043t0004	a0001c0043t0004g0063 a0001c0043t0004g0063	1	282	0.0036	619	c.623 others(636): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCAGGG CTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCG GGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC GGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGC GGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGG GGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGC GGGGCTCGGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGG GAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGC GGGGCTCTGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	163240	C C	CCCCTCCA others(612): Show CCCCTCCACAGAACCGGACCCCTCCCCTCTCCCTCCACAGAACCGGACCC CTCCCCTCCCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACA GAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCT CTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCCTCCACAGAACCGG ACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCC CTCCACAGAACCGGAGCCCTCCCCTCTCCCTCCACAGAACCGGACCCCTC CCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACA GAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCT CTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAAC CGGAGCCCTCCCCTCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCC CTCCACAGAACCGGACCCCTCCCCTCTCCCTCCACAGAACCGGACCCCTC CCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACA GAACCGGAGCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0053 a0004c0008t0053	a0004c0008t0053g0199 a0004c0008t0053g0199	1	282	0.0036	619	c.258 others(636): Show c.2584-252_2584-251insCTCCACAGAACCGGACCCCTCCCCTCTC CCTCCACAGAACCGGACCCCTCCCCTCCCCCTCCACAGAACCGGAGCCCT CCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCAC AGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCC TCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCG GACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCCT CCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCT CCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCAC AGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCC TCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCCTCCACAGAACCG GACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCCT CCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCT CCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCC	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	163240	C C	CCCCTCCA others(612): Show CCCCTCCACAGAACCGGACCCCTCCCCTCTCCCTCCACAGAACCGGACCC CTCCCCTCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACA GAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCT CTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCCTCCACAGAACCGG ACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCC CTCCACAGAACCGGAGCCCTCCCCTCTCCCTCCACAGAACCGGACCCCTC CCCTCTCCTCCCTCCACAGAAACGGACCCCTCCCCTCTTCTCCCTCCACA GAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCT CTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAAC CGGAGCCCTCCCCTCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCC CTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCC CTCCCCTCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACA GAACCGGACCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0040 a0002c0040	a0002c0040t0029 a0002c0040t0029	a0002c0040t0029g0156 a0002c0040t0029g0156	1	282	0.0036	619	c.258 others(636): Show c.2584-252_2584-251insCTCCACAGAACCGGACCCCTCCCCTCTC CCTCCACAGAACCGGACCCCTCCCCTCTCCCTCCACAGAACCGGAGCCCT CCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCAC AGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCC TCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCG GACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCCT CCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAAACGGACCCCT CCCCTCTTCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCAC AGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCC TCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCCTCCACAGAACCG GACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTC CCTCCACAGAACCGGAGCCCTCCCCTCTCCCTCCACAGAACCGGACCCCT CCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCC	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(612): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAG GGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAG GAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGA AGAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAG GAGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAA GAGTCCGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG01106.hp2 HG01243.hp1 others(3): Show HG00558.hp2 HG01106.hp2 HG01243.hp1 NA19030.hp1 NA19079.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0003 a0001c0001t0005 a0001c0001t0026 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0026 a0001c0001t0061 a0001c0002t0002 a0001c0005t0001	a0001c0001t0003g0002 a0001c0001t0005g0014 a0001c0001t0026g0099 others(3): Show a0001c0001t0003g0002 a0001c0001t0005g0014 a0001c0001t0026g0099 a0001c0001t0061g0166 a0001c0002t0002g0031 a0001c0005t0001g0152	6	386	0.0155	619	c.-46 others(630): Show c.-4676_-4675insTCCCTCCTCCTCCCGGACTCTTTCCTCTCCTCCT CCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTCTCCT CCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCC CTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCCTC CTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTCCTCC TCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTT TCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTT TCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTC CCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTC CCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCC CTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTC CCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCC TCCTCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
LUC7L_chr16_183990_234449	186391	G G	GGAGGAAC others(612): Show GGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGAGGGAGGAACAGC GACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGAGGAACAGCGAC ACGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGAGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGA ACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGG GGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	350	0.0029	619	c.28 others(630): Show c.2806_*2807insTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTC GCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCG TGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCC CCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTC CTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGC TGTTCCTCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTG TCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCG TGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCC CCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTC CTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTC GCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTC CCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2598		chr16	TogoVar
MBD3L3_chr19_7051207_7063676	7061806	T T	TATATAAT others(612): Show TATATAATTATATTCTATATAATATAATTATATAATATATAATTATATTC TATATAGAATATAATTATATAATATATAATTATATTCTATATTATATAAT TATAATATAATTATATAAGATAATTATATAATATATAATTATATTATATA TATTATATAATATATAATTATATTATATATATTATATAATATATAATTAT ATTATATATATTATATAATATATAATTATATTATATATTATATAATATAT AATTATATTATATATTATATAATATATAATTATATTATATATTATATAAT ATATAATTATATTATATATTATATAATATATAATTATATTATATATTATA TAATATATAATTATATTATATATTATATAATATATAATTATATTATATAT TATATAATATATAATTATATTATATATTATAATATATTTAATATAATTAT ATTATAGATTATAATCTATAATATAATTATATTAATAGTATTATAATATA TAATATATTATATATAATTATATTATAACATATTATATATAATTATATTA TAGATCATAATCTATAATTATATATAATATGTTATAATATATAATTATAT TCTATATATAATTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	1	288	0.0035	619	c.-32 others(630): Show c.-3202_-3201insTATATATAATTATATATAGAATATAATTATATAT TATAACATATTATATATAATTATAGATTATGATCTATAATATAATTATAT ATAATATGTTATAATATAATTATATATAATATATTATATATTATAATACT ATTAATATAATTATATTATAGATTATAATCTATAATATAATTATATTAAA TATATTATAATATATAATATAATTATATATTATATAATATATAATATAAT TATATATTATATAATATATAATATAATTATATATTATATAATATATAATA TAATTATATATTATATAATATATAATATAATTATATATTATATAATATAT AATATAATTATATATTATATAATATATAATATAATTATATATTATATAAT ATATAATATAATTATATATTATATAATATATATAATATAATTATATATTA TATAATATATATAATATAATTATATATTATATAATATATATAATATAATT ATATATTATATAATTATCTTATATAATTATATTATAATTATATAATATAG AATATAATTATATATTATATAATTATATTCTATATAGAATATAATTATAT ATTATATAATTATATTATATAGAATATAATTATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3131		chr19	TogoVar
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(612): Show TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTT GGTGGGGGAGTGTGATTGGTGGAGTGTGGTTGGTAGGGGAGTGTGGTTGG TGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTG GTGGGGGAGTGTGGTTGGGGGAGTGTGGTTGGTGGGGGAGTGTGTTTGGT GGGGGAGTGTGTTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGTTTGG TGGGGGAGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTT GGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGT TTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGTGTGGTTG ATGGGTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGGGGGAGTGTGGTTG GTGGGGGAGTGTGGTTGGTGGGGAGTGTGGTTGGTGGGGCAGTGTGGTTG ATGGGAGTGTGGTTGATGGGGAGTGTGGTTGATGGGGGGAGTGTGGTTGG TGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTG GTGGGGGAGTGTGGTTGATG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01074.hp1 HG01192.hp1 others(2): Show HG01069.hp2 HG01074.hp1 HG01192.hp1 HG01517.hp1 HG02148.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0019 a0001c0004t0006 a0001c0004t0019	a0001c0004t0006g0344 a0001c0004t0006g0345 a0001c0004t0019g0332 others(2): Show a0001c0004t0006g0344 a0001c0004t0006g0345 a0001c0004t0019g0332 a0001c0004t0019g0343 a0001c0004t0019g0349	5	360	0.0139	619	c.57+ others(636): Show c.57+19144_57+19145insGTGGGGGGAGTGTGATTTGTGGGGGAGT GTGGTTGGTGGGGGAGTGTGATTGGTGGAGTGTGGTTGGTAGGGGAGTGT GGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTG TGGTTGGTGGGGGAGTGTGGTTGGGGGAGTGTGGTTGGTGGGGGAGTGTG TTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGT GTTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGGGGGAGT GTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAG TGTGGTTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGTG TGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGGGGGAGTG TGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTGTGGTTGGTGGGGCAGTG TGGTTGATGGGAGTGTGGTTGATGGGGAGTGTGGTTGATGGGGGGAGTGT GGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTG TGGTTGGTGGGGGAGTGTGGTTGATGGGGGGAGTGTGGTTG	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGA others(612): Show AAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAG GAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGGG AAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGG TGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGG AAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGG AGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGA GGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAG GGGGAGGGGGAGGGGAGGGGGAAGGGAGGGGGGGAGGGGGAGGGGGAGGG AAGAGAGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGA AGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGAGGGGAGGGGGGAGGGAG GGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGG GGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGG GGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0005 a0003c0003t0009g0005	1	272	0.0037	619	c.250 others(634): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCCTCCCTCCC TTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTC CCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCCTCCCCTCCCTCCCC CCTCCCCTCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCC TCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCTCTCTTCCCTCCCCCT CCCCCTCCCCCCCTCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCC CCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCC CCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCC CCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCC CTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTC CTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(612): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCTCCTCCCCTCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCC CTCCTCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCT CTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCT CCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCC CTCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0075 a0003c0003t0001g0075	1	140	0.0071	619	c.114 others(638): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCTC CCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCTCCT CCCCTCCTCCCCTCCCCTCCCCTCCTCCCTCCTCCTCTCCCCTCCCCTCC CCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCC TCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCT CCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
NCAPG2_chr7_158626169_158709804	158668042	C C	CCTTACCC others(612): Show CCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCC CTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACT ACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCC TTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCT CCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACT GGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTT ACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCG CCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGG GTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACC CACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCC CTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGT CCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCA CTACTGGGTCCCTCTGCCCG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	378	0.0027	619	c.148 others(638): Show c.1480-3293_1480-3292insCGGGCAGAGGGACCCAGTAGTGGGTA AGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAG TAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGA GGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAG GGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTA GTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGG GACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGA GGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGT GGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGAC CCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGG GCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGG TAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCC AGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NKAIN2_chr6_123798865_124830640	124687566	T T	TATATTCC others(612): Show TATATTCCATATATATACATACATGGTATATATTCCATATATACATACAT GGTATATATTCCTATATATACATACATGGTATATATTCCATATATATACA TACATGGTATATATTCCATATATATACATACATGGTATATATTCCATATA TATATACATACATGGTATATATTCCATATATATATACACATACATGGTAT ATATTCCATATATACATACATGGTATATATTCCTATATATACATACATGG TATATATTCCAATATATACATACATGGTATATATTCCATATATATACATA CATGGTATATATTCCATATATATATACATACATGGTATATATTCCATATA TATACATACATGGAATATATATATTCCATATATACATATATATATTCCAT ATATACACAGATATATATTCCATATATACACATATACATGGAATATATAT CTGTATATATATGGAATATATATATGTATATATATGAAATATATATGTAT ATGTATTTATATTATGTATTTATATTATAAATATATATTATGTATATATA TTTATATTATAAATATATATTATGTATATATATTTATATTATAAATATAT ATTATGTATATATATTTATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0063 a0001c0002t0004g0063	1	66	0.0152	619	c.474 others(638): Show c.474+29184_474+29185insTCCATATATATACATACATGGTATAT ATTCCATATATACATACATGGTATATATTCCTATATATACATACATGGTA TATATTCCATATATATACATACATGGTATATATTCCATATATATACATAC ATGGTATATATTCCATATATATATACATACATGGTATATATTCCATATAT ATATACACATACATGGTATATATTCCATATATACATACATGGTATATATT CCTATATATACATACATGGTATATATTCCAATATATACATACATGGTATA TATTCCATATATATACATACATGGTATATATTCCATATATATATACATAC ATGGTATATATTCCATATATATACATACATGGAATATATATATTCCATAT ATACATATATATATTCCATATATACACAGATATATATTCCATATATACAC ATATACATGGAATATATATCTGTATATATATGGAATATATATATGTATAT ATATGAAATATATATGTATATGTATTTATATTATGTATTTATATTATAAA TATATATTATGTATATATATTTATATTATAAATATATATTATGTATATAT ATTTATATTATAAATATATATTATGTATATATATTTATAATAT	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NOTCH1_chr9_136489433_136551048	136535021	C C	CCCCCCAG others(612): Show CCCCCCAGTCCCTCCCCAGAGCCCCTCAGTCCCTCCCCACAGAGCCCCCC AGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCGAGTCCGT CCCCACAGAGCCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCC CAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGA GCCCCCGAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCC CGAGTCCCTCCCCACAGAGCCCGAGTCCGTCCCCACAGAGCCCCCACTCC CTCCCCACAGAGCCCCCAAGTCCGTCCCCACAGGCCCCCAGTCCCTCCCC ACAGAGCCCCCCAGTCCCCCCCCACAGAGCCCCCAGTCCCTCCCCACAGA GCCCCCGAGTCCCTCCCCACAGAGCCCCCGAGTCTGTCCCCACAGGCCCC ACTGGACACCAGGCTCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCC ACAGAGCCCCCCAGTCCCTCCTCACAGAGCCCCCGAGTCCCTCCCCACAG AGCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCC CCAAGTCCGTCCCCACAGAG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03540.hp2 HG03471.hp1 HG03540.hp2	a0001 a0017 a0001 a0017	a0001c0018 a0017c0045 a0001c0018 a0017c0045	a0001c0018t0001 a0017c0045t0003 a0001c0018t0001 a0017c0045t0003	a0001c0018t0001g0271 a0017c0045t0003g0309 a0001c0018t0001g0271 a0017c0045t0003g0309	2	324	0.0062	619	c.140 others(636): Show c.140+9002_140+9003insCTCTGTGGGGACGGACTTGGGGGCTCTG TGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGCTCTGTGGGG AGGGACTCGGGGGCTCTGTGAGGAGGGACTGGGGGGCTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGAGGGACTGGAGCCTGGTGTCCAGTGGGGCCTG TGGGGACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGG GAGGGACTGGGGGCTCTGTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGG ACTGGGGGCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGG GGCTCTGTGGGGACGGACTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCT GTGGGGAGGGACTGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGG GAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGA CTGGGGGGCTCTGTGGGGAGGGACTGGGGGGGCTCTGTGGGGACGGACTC GGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCT CTGTGGGGAGGGACTGAGGGGCTCTGGGGAGGGACTGGGGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(612): Show TCCTCTCCTCCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCCTCCCAC CCTCCCCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTTC CCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCT CCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCC TCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTC CCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCT CTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0155 a0001c0001t0065g0155	1	326	0.0031	619	c.433 others(636): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAG GGGAAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAAGGGGAGGGGGGGAGGGTGGGAGG GGAGGGGAGGGGAGAGGAGGGGAGGGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NXN_chr17_794310_984776	841572	G G	GGCGCATC others(612): Show GGCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCAC ACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCATGCCGGCGAGCA GGTCCACCCTGACCACGGCGCATCTCACATGGGCGAGCAGGTCCACCCTG ACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCAT CTCACACCCACGGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCG AGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCAC CCTGACCACGGCGCATCTCATGCCGGCGAGCAGGTCCACCCTGACCACGG CGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACAC CCACGGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGT CCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACC ACAGCGCATCTCACGCCGGCGAGCAGGTCCACCCTGACCACGGCGCATCT CACATGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGA GCAGGTCCACCCTGACCACA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0152 a0001c0001t0004g0152	1	242	0.0041	619	c.361 others(638): Show c.361-15495_361-15494insTGTGGTCAGGGTGGACCTGCTCGCCC GTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCATGTGAGATGC GCCGTGGTCAGGGTGGACCTGCTCGCCGGCGTGAGATGCGCTGTGGTCAG GGTGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGC TCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGA GATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGG TCAGGGTGGACCTGCTCGCCGGCATGAGATGCGCCGTGGTCAGGGTGGAC CTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCG TGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCGC CGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGT GGACCTGCTCGCCCATGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCG CCGGCATGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGA TGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841586	C C	CCACAGGC others(612): Show CCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGT CCCCCCTGACCACGGAGCATCTCACACCCGCGAGCAGGTCCCCCCGACCA CGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTC ACACCCACAGGCAGGTCCCCCCGACCACAGAGCATCTCACACGGGCGAGC AGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCT GACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGC ATCTCACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGG CGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACCCACGGGCAGGTCC CCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACG GCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCAC ACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCA GGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTG ACCACGGCGCATCTCACATG	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0004 a0001c0001t0019g0004	1	242	0.0041	619	c.361 others(638): Show c.361-15509_361-15508insCATGTGAGATGCGCCGTGGTCAGGGT GGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCG CCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGA TGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGT CAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCT GCCCGTGGGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTG TGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCTCCG TGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGG GACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGC CCGTGTGAGATGCTCTGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATG CGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCG GGGGGACCTGCTCGCGGGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGC TCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841638	A A	ACCCTGAC others(612): Show ACCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCAC GGAGCATCTCACACCCACAGGCAGGTCCCCCCTGACCACAGCGCATCTCA CACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGC AGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCT GACCACGGAGCATCTCACACCCACAGGCAGGTCCCCCCGACCACGGAGCA TCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACCCA CAGGCAGGTCCCCCCGACCACGGAGCATCTCACACGGGCGAGCAGGTCCC CCCTGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACGG AGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACA CCCACAGGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAG GTCCACCCTGACCACGGCGCATCTCATGCCGGCGAGCAGGTCCCCCCGAC CACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCT CACACGGGCGAGCAGGTCCC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	242	0.0041	619	c.361 others(638): Show c.361-15561_361-15560insGGGACCTGCTCGCCCGTGTGAGATGC GCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGG GGGACCTGCTCGCCGGCATGAGATGCGCCGTGGTCAGGGTGGACCTGCTC GCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCCTGTGGGTGTGAG ATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGG TCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCAGGGGGGACC TGCTCGCCCGTGTGAGATGCTCCGTGGTCGGGGGGACCTGCCTGTGGGTG TGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCC GTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCTCCGTGGTCAGGGGG GACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGC CCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGAT GCGCTGTGGTCAGGGGGGACCTGCCTGTGGGTGTGAGATGCTCCGTGGTC AGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949166	G G	GGCCTCCT others(612): Show GGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCC CTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTC TCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCGGCCTC CTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCC TGCCTCCTCCTCTCCCCGCGGCCTCTCCTCTCCCCGCGGCCTCCTCCTCT CCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTC CTCCTCTCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCC TGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCT CCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTC CTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCC CGGCCTCCTCCTCTCCCCCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	242	0.0041	619	c.360 others(638): Show c.360+30152_360+30153insAGGGGGAGAGGAGGAGGCCGGGGGGA GAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCC GGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCC GGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGA GGAGGCCGCGGGGAGAGGAGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGA GAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCC GGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAG GAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGA GAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAG GGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
P2RX1_chr17_3891592_3921465	3899245	G G	GCCAGGCT others(612): Show GCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGCAGCCTCCACCT CCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGTGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATC CGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGG GCCTGGCCGAGACCCCATCTCTTGCAAACAAACAAAAAAGAGTTGGGGCC AGGCACGGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGG GCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGTGGGCG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACC CGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCC TGGGGGACAGAGAGAGACTTTGCCTCAAACAAACAAACAAACAAAAAGAG ATGGGGTCTCATTCTGTCAC	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0261	1	378	0.0027	619	c.876 others(634): Show c.876-222_876-221insGTGACAGAATGAGACCCCATCTCTTTTTGT TTGTTTGTTTGTTTGAGGCAAAGTCTCTCTCTGTCCCCCAGGCTGGAGTG CAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGACCACCGTGCCTGGCCCCAACT CTTTTTTGTTTGTTTGCAAGAGATGGGGTCTCGGCCAGGCCCGGTGGCTC ACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGC TGCAGTGAGCCGAGATCGTGCCGCTGCACTCCAGCCTGG	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding	8/11			chr17	TogoVar
P2RX1_chr17_3891592_3921465	3899245	G G	GCCAGGCT others(612): Show GCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGCAGCCTCCACCT CCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATC CGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGG GCCTGGCCGAGACCCCATCTCTTGCAAACAAACAAAAAAGAGTTGGGGCC AGGCACGGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGG GCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGTGGGCG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACC CGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCC TGGGGGACAGAGAGAGACTTTGCCTCAAACAAACAAACAAACAAAAAGAG ATGGGGTCTCATTCTGTCAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18951.hp1 NA19091.hp2 HG00558.hp1 NA18951.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0247 a0001c0001t0003g0293 a0001c0001t0003g0299 a0001c0001t0003g0247 a0001c0001t0003g0293 a0001c0001t0003g0299	3	378	0.0079	619	c.876 others(634): Show c.876-222_876-221insGTGACAGAATGAGACCCCATCTCTTTTTGT TTGTTTGTTTGTTTGAGGCAAAGTCTCTCTCTGTCCCCCAGGCTGGAGTG CAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGACCACCGTGCCTGGCCCCAACT CTTTTTTGTTTGTTTGCAAGAGATGGGGTCTCGGCCAGGCCCGGTGGCTC ACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCCGGGCGTGGTGGCACGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGC TGCAGTGAGCCGAGATCGTGCCGCTGCACTCCAGCCTGG	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding	8/11			chr17	TogoVar

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Search Results (Total: 10000 hits)