Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
UNC80_chr2_209766832_210004296	209903533	T T	TTATATAT others(408): Show TTATATATAGTATATATGTAATATATATACTATATATATTATATATAGTA TATATGTAATATATATACTATATATATTATATATAGTATATATGTAATAT ATATACTATATATATTATATATAGTATATATGTAATATATATACTATATA TATTATATATAGTATATATGTAATATATATACTATATATAGTATATATGT AATATATATACTATATATAGTATATATGTAATATATATATACTATATATA GTATATATGTAATATATATATACTATATATAGTATATATGTAATATATAT ACTATATATAGTATATATGTAATATATACTATATATAGTATATATGTAAT ATATATACTATATATAGTATATATGTAATATATATACTATATATAGTATA TATGTAATATATATAC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	1	188	0.0053	415	c.458 others(434): Show c.4582-1204_4582-1203insCTATATATATTATATATAGTATATAT GTAATATATATACTATATATATTATATATAGTATATATGTAATATATATA CTATATATATTATATATAGTATATATGTAATATATATACTATATATATTA TATATAGTATATATGTAATATATATACTATATATAGTATATATGTAATAT ATATACTATATATAGTATATATGTAATATATATATACTATATATAGTATA TATGTAATATATATATACTATATATAGTATATATGTAATATATATACTAT ATATAGTATATATGTAATATATACTATATATAGTATATATGTAATATATA TACTATATATAGTATATATGTAATATATATACTATATATAGTATATATGT AATATATATACTATATATAGTATATATGTAATATATATA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	28/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
VCX3B_chrX_8459830_8471510	8466568	T T	TGGTGTGT others(408): Show TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGGAGGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGAGGTGTGTGGGGAAGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGGAGGAAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0005 a0005	a0005c0089 a0005c0089	a0005c0089t0027 a0005c0089t0027	a0005c0089t0027g0039 a0005c0089t0027g0039	1	271	0.0037	415	c.18 others(424): Show c.185_*186insGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGGGGGGAAGAGGTGGTGTGTGGGGAGGG AGGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG GGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGAGGTGTGTGGGGAAGGAGGGAGGGAGGGGGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGGAGGAAGAGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		59		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466909	A A	AGGGAGGG others(408): Show AGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGTGTGGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGG AGGAAGCGGTGGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG GAGGAAGAGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0003 a0007c0006t0003	a0007c0006t0003g0005 a0007c0006t0003g0005	1	271	0.0037	415	c.52 others(424): Show c.526_*527insGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGAGGGAGGGAGGAAGCGGTGGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGGAGGGAGGAAGAGGTGTGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		400		chrX	TogoVar
ZFPM2_chr8_105313438_105809539	105380898	A A	AACATATA others(408): Show AACATATAATATATATGTTATATATATTATAATATATATAACATATAATA TATATGTTATATATATTATAATATATATAACATATAATATATATGTTATA TATATTATAATATATATAACATATAATATATATGTTATATATATTATAAT ATATATAACATATAATATATATGTTATATATATTATAATATATATAACAT ATAATATATATGTTATATATATTATAATATATATAACATATAATATATAT GTTATATATATTATAATATATATAACATATAATATATATGTTATATATAT TATAATATATATAACATATAATATATATGTTATATATATTATAATATATA TAATATATAATATATATGTTATATATATTATAATATATATAATATATATG TTATATATATTATAAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	92	0.0109	415	c.41- others(432): Show c.41-38245_41-38244insCATATAATATATATGTTATATATATTAT AATATATATAACATATAATATATATGTTATATATATTATAATATATATAA CATATAATATATATGTTATATATATTATAATATATATAACATATAATATA TATGTTATATATATTATAATATATATAACATATAATATATATGTTATATA TATTATAATATATATAACATATAATATATATGTTATATATATTATAATAT ATATAACATATAATATATATGTTATATATATTATAATATATATAACATAT AATATATATGTTATATATATTATAATATATATAACATATAATATATATGT TATATATATTATAATATATATAATATATAATATATATGTTATATATATTA TAATATATATAATATATATGTTATATATATTATAATA	ZFPM2	ENSG00000169946.14	transcript	ENST00000407775.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZFPM2_chr8_105313438_105809539	105533971	T T	TTCCTTCC others(408): Show TTCCTTCCTTCCTTCCTCCCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTT CCCTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTCCCTCCCTCCCTTCC TCCCTCCCTTCCTTCCTCCCTCCCATCTTCCTTCCTCCCTCCCTTCCTTC CTCCCTCCCTCCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCATCTTCCTT CCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCATCTTCCT TCCTCCCTCCCATCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCC TTCCTCCCTCCCTTCCTTCCTCCCTCCCATCTTCCTTCCTCCCTCCCTCC CTTCCTCCCTCCCTTCCTTCCTCCCTCCCATCTTCCTTCCTCCCTCCCTT CCTTCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	92	0.0109	415	c.302 others(434): Show c.302-27392_302-27391insTCCTTCCTTCCTTCCTCCCTTTCTCC CTCCCTCTCCTCCCTCCCTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCATC TTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTT CCTTCCTCCCTCCCATCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCT TCCTTCCTCCCTCCCATCTTCCTTCCTCCCTCCCATCTTCCTTCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTTCCTCCCTCC CATCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTTCCTCCCTC CCATCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTC	ZFPM2	ENSG00000169946.14	transcript	ENST00000407775.7	protein_coding	3/7			chr8	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(408): Show CATATGTGATATATATTGTATATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATAT ATCATATATATGATATATATCACATATATCATATATATGATATATATCAT ATATATCATATATATGATATATATCATATATCATATATATGATATATATC ATATATCATATATATGATATATATCACATATATATATCATATATATCACA TATATATCATATATATCATATATATATCATATATATGATATATATCATAT ATATATCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	350	0.0029	415	c.-34 others(426): Show c.-3494_-3493insATATGTGATATATATTGTATATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCATATATATGATATATATCACATATATCATATA TATGATATATATCATATATATCATATATATGATATATATCATATATCATA TATATGATATATATCATATATCATATATATGATATATATCACATATATAT ATCATATATATCACATATATATCATATATATCATATATATATCATATATA TGATATATATCATATATATATCATATATATG	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3390		chr10	TogoVar
ZNF573_chr19_37733302_37784586	37751663	C C	CATATATA others(408): Show CATATATACTGTGTATATATACAGTATAGACAGCATATATACTGTGTATA TATACAGTATAGACAGCATATATACTGTGTATATATACAGTATAGACAGC ATATATACTGTGTATATATACAGTATAGACAGCATATATACTGTGTATAT ATACAGTATAGACAGCATATATACTGTGTATATATACAGTATAGACAGCA TATATACTGTGTATATATACAGTATAGACAGCATATATACTGTGTATATA TACAGTATAGACAGCATATATACTGTGTATATATACAGTATAGACAGCAT ATATACTGTGTATAGTACATAGTACCGTATATATACTGTGTATAGTACAT AGTACCGTATATACTGTATATAGTACATAGTACCGTATATATACTGTATA TAGTACATAGTACCGT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	350	0.0029	415	c.296 others(434): Show c.296-11470_296-11469insACGGTACTATGTACTATATACAGTAT ATATACGGTACTATGTACTATATACAGTATATACGGTACTATGTACTATA CACAGTATATATACGGTACTATGTACTATACACAGTATATATGCTGTCTA TACTGTATATATACACAGTATATATGCTGTCTATACTGTATATATACACA GTATATATGCTGTCTATACTGTATATATACACAGTATATATGCTGTCTAT ACTGTATATATACACAGTATATATGCTGTCTATACTGTATATATACACAG TATATATGCTGTCTATACTGTATATATACACAGTATATATGCTGTCTATA CTGTATATATACACAGTATATATGCTGTCTATACTGTATATATACACAGT ATATATGCTGTCTATACTGTATATATACACAGTATATAT	ZNF573	ENSG00000189144.15	transcript	ENST00000536220.7	protein_coding	4/4			chr19	TogoVar
ZSCAN32_chr16_3377085_3406004	3393207	T T	TATATATA others(408): Show TATATATAAATATATATATATTTATATATATATAAATATATATATATTTA TATATATAAATATATATATATAAATATATATATATTTATATATATATATA TATATAAATATATATATTTATATATATATTTATATATATATAAATATATA TATATAAATATATATATATAAATATAAATAAATATATATTTATATATATA TATATTTATATATATATTTATATATATATAAATATATATATATTTATATA TATAAATATATATATATTTATATATATATAAATATATATATATTTTATAT ATATATATAAATATATATATATATTTTATATATATATATAAATATATATA TATATTTTATATATATATATAAATATATATATATATTTTATATATATATA TAAATATATATATATA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	400	0.0025	415	c.532 others(430): Show c.532+441_532+442insTATATATATATATTTATATATATATATAAA ATATATATATATATTTATATATATATATAAAATATATATATATATTTATA TATATATATAAAATATATATATATATTTATATATATATATAAAATATATA TATATTTATATATATATAAATATATATATATTTATATATATAAATATATA TATATTTATATATATATAAATATATATATAAATATATATATATATAAATA TATATTTATTTATATTTATATATATATATTTATATATATATATTTATATA TATATAAATATATATATAAATATATATATTTATATATATATATATATATA AATATATATATATTTATATATATATATTTATATATATAAATATATATATA TTTATATATATATAAATATATATATATTTATATAT	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ZSCAN32_chr16_3377085_3406004	3393207	T T	TATATATA others(408): Show TATATATAAATATATATATATTTATATATATATAAATATATATATATTTA TATATATAAATATATATATATAAATATATATATATTTATATATATATATT TATATATATAAATATATATATTTATATATATATTTATATATATATAAATA TATATATATAAATATATATATATAAATATAAATAAATATATATTTATATA TATAAATATATATTTATATATATATTTATATATATATAAATATATATATA TATATATATAAATATATATATATTTATATATATATAAATATATATATATT TTATATATATATATAAATATATATATATATTTATATATATATATAAATAT ATATATATATTTATATATATATATAAATATATATATATTTTATATATATA TATAAATATATATATA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	400	0.0025	415	c.532 others(430): Show c.532+441_532+442insTATATATATATTTATATATATATATAAAAT ATATATATATTTATATATATATATAAATATATATATATATTTATATATAT ATATAAATATATATATATATTTATATATATATATAAAATATATATATATT TATATATATATAAATATATATATATTTATATATATATATATATATATTTA TATATATATAAATATATATATAAATATATATTTATATATATAAATATATA TTTATTTATATTTATATATATATATTTATATATATATATTTATATATATA TAAATATATATATAAATATATATATTTATATATATAAATATATATATATA AATATATATATATTTATATATATATATTTATATATATAAATATATATATA TTTATATATATATAAATATATATATATTTATATAT	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ABCB11_chr2_168915781_169036324	168975438	T T	TATAAATA others(409): Show TATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTATA GATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGA TAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAA TATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0008 a0002c0020t0008	a0002c0020t0008g0233 a0002c0020t0008g0233	1	306	0.0033	416	c.130 others(435): Show c.1308+1138_1308+1139insCTATAAATATAAAAATATTTATATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAAT ATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTT ATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAATAT AAAAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTAT ATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATATATTT ATATATTTATCTATAAATATAAAAATATTTATATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975476	T T	TATAAATA others(409): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATT TATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTT TATATTTATAGATAAATATATCAATATTTTTATATTTATAGATAAATATA TCAATATATAAATATTTTTATATTTATAGATAAATATATCAATATATAAA TATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATT TATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATA TTTTTATATTTATAAATATATAAATATTTTTATATTTATAAATATATAAA TATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03195.hp1 HG03139.hp1 HG03195.hp1	a0001 a0001	a0001c0048 a0001c0049 a0001c0048 a0001c0049	a0001c0048t0007 a0001c0049t0006 a0001c0048t0007 a0001c0049t0006	a0001c0048t0007g0017 a0001c0049t0006g0018 a0001c0048t0007g0017 a0001c0049t0006g0018	2	306	0.0065	416	c.130 others(435): Show c.1308+1100_1308+1101insCTATAAATATAAAAATATTTATATAT TTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TGATATATTTATCTATAAATATAAAAATATTTATATATTGATATATTTAT CTATAAATATAAAAATATTGATATATTTATCTATAAATATAAAAATATTT ATATATTTATCTATAAATATAAAAATATTTATATATTTATAAATATAAAA ATATTTATATATTTATAAATATAAAAATATTTATATATTTATAAATATAA AAATATTTATATATTTATCTATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ACAP3_chr1_1287391_1312930	1289357	C C	CCGTGTCT others(409): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCCCTGCTCCGTC CCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0223 a0001c0001t0004g0223	1	295	0.0034	416	c.42 others(427): Show c.4206_*4207insACGGAGCAGAGACACGGGACGGAGCAGGGACACG GGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCA GAGACACGGGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGAC GGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGA CACGGGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGGGACGG GGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACG GGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGA GACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGAC GGAGCAGAGACACGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3033		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289823	C C	CCCCGTCT others(409): Show CCCCGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0171 a0001c0001t0007g0171	1	295	0.0034	416	c.37 others(427): Show c.3740_*3741insACGGGGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGA CACGGGACGGAGCAGGGACACGGGACGGAGCAGGGACACGGGACGGAGCA GAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGG AGCAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGG ACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCA GAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGG AGCAGAGACACGGGGGACGGAGCAGAGACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2567		chr1	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(409): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG AGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGG GAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAGGGAGGGAGG GATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAAGGAA AGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02622.hp1 HG02965.hp2 others(2): Show HG02109.hp2 HG02622.hp1 HG02965.hp2 HG03195.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0018 a0001c0046 others(2): Show a0001c0005 a0001c0018 a0001c0046 a0002c0001 a0002c0011	a0001c0005t0012 a0001c0018t0070 a0001c0046t0008 others(2): Show a0001c0005t0012 a0001c0018t0070 a0001c0046t0008 a0002c0001t0012 a0002c0011t0006	a0001c0005t0012g0211 a0001c0018t0070g0119 a0001c0046t0008g0112 others(2): Show a0001c0005t0012g0211 a0001c0018t0070g0119 a0001c0046t0008g0112 a0002c0001t0012g0079 a0002c0011t0006g0054	5	228	0.0219	416	c.259 others(437): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCT CCCTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCA TCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCTCCT TTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCC CATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCT CCCTCCCTCCCATCCTTTCCTTCTCTCCCACCCTCCCATCCCTCCTTTCC TTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCTCTCCTTT CCTTCCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGAAGA others(409): Show AGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGAGGGGGAGGG GGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGG GGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGA GGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGG GGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGA GGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGG AGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAG GGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAG GAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0195 a0001c0001t0004g0195	1	352	0.0028	416	c.51 others(427): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCT CCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCC CTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCC TCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCTC CCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(409): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGAGGAGGGGAGGGGGGAGGAGGGGAG GGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGG AGGAGGGGAGGGGGGGAGGAGGGGAGGGGGAGGAGGGAGGAGGGGAGGGG GAGAGGGGGGAGGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGA GGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGG AGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAG GGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAG GAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0131 a0001c0001t0010g0131	1	352	0.0028	416	c.51 others(427): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCTCCCCTCTCCCCCCTCCCCCCTCTCCCCCTCCCCTCCTCCCT CCTCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCC TCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCT CCCCTCCTCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCC CCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(409): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGAGGAGGGGAG GGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGG AGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGG GGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGG AGGAGGGGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGG AGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAG GGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAG GAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0197 a0001c0001t0017g0197	1	352	0.0028	416	c.51 others(427): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCTCCCCTCCTCCTTCCCTCCTCCCCCT CCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCTC CTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCC TCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCTC CCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCC CCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(409): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGAGGAGGGGGG AGGGGGGAGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGG AGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAG GAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAA GGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGA GGAGGGGAGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	352	0.0028	416	c.51 others(427): Show c.5165_*5166insCCCTCCCCCTCCCCTCCTCCCCCGTCCCCTCCTC CCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCTC CCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTCC CTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCCT CCCCTCCTCCCCTCTCCCCCTCCCCCTCTCCCCCCTCCCCTCCTCCCTCC TCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCCT CCCCTCCTCCCTCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCTCCCCCTC CCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCC CCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(409): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGG AGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAG GAGGGGAGGAGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAG GGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAG GAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0008 a0001c0001t0006g0008	1	352	0.0028	416	c.51 others(427): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCTCCTCCCCTCCTCCCCCTCCCCCTTCC CTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCCT CCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCTCCCCTCCTCCCTCC TCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCCT CCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCTC CCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCC CCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(409): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGAGGAGGGGAGGGGAGGAGGGAAGGA GGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGG AGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAG GGGAGGGGGGAGGGGGGAGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAG GAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	352	0.0028	416	c.51 others(427): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCTCCCCCCTCCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCT CCCCTCCTCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCTCC TCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCCT CCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCTC CCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCC CCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADARB2_chr10_1172313_1742525	1558668	A A	ATGCCCCA others(409): Show ATGCCCCATCTAAATCCACATCCCACCTCTGCCCCCCTCCGTGGGTGCTC AGCCCCCACACACCCCATCTAAATCTGCATCCCACCTCTGTCCCCTTCTG TGGGTGCTCAGCCCCCACGCACCCCATCTAAATCTGCATCCCACCTCTGT CCCCTTCTGTGGGTGCTCAGCCCCTGCATGCTCCGTCTAAACTCGAATCC CACCTCTGCCCCCCTCCATGGGTGCTCAGCCCCCGCATGCTCCATCTAAA CTCGAATCCCACCTCTGCCCCCCTCCATGGGTGCTCAGCCCCCGCATGCT CCATCTAAACTCGAATCCCACCTCTGCCCCCCCCTCCATGGGTGCTCAGC CCCCGCATGCTCCATCTAAACTCGAATCCCACCTCTGCCCCCCTCCGTGG GTGCTCAGCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0043 a0002c0002t0002g0043	1	106	0.0094	416	c.100 others(437): Show c.100+178382_100+178383insCGGGGGGGGCTGAGCACCCACGGA GGGGGGCAGAGGTGGGATTCGAGTTTAGATGGAGCATGCGGGGGCTGAGC ACCCATGGAGGGGGGGGCAGAGGTGGGATTCGAGTTTAGATGGAGCATGC GGGGGCTGAGCACCCATGGAGGGGGGCAGAGGTGGGATTCGAGTTTAGAT GGAGCATGCGGGGGCTGAGCACCCATGGAGGGGGGCAGAGGTGGGATTCG AGTTTAGACGGAGCATGCAGGGGCTGAGCACCCACAGAAGGGGACAGAGG TGGGATGCAGATTTAGATGGGGTGCGTGGGGGCTGAGCACCCACAGAAGG GGACAGAGGTGGGATGCAGATTTAGATGGGGTGTGTGGGGGCTGAGCACC CACGGAGGGGGGCAGAGGTGGGATGTGGATTTAGATGGGGCA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADGRD1_chr12_130948907_131146469	131046203	C C	CCCTGATC others(409): Show CCCTGATCAGTGTCCTCCCTGGTCAATGCTCCTCCCTGGTCAGTGTCCTC CTGGTCAGTACTCCCTCCCTGGTCAATGCTCCCTCCCTGGTCAGTGCTCC CTCCCTGGTCAGTGTCCTCCCTGTTCAGTGCTCCCTCCCTGTTCAGTGCT CCCTCCCTGGTCAGTGTCCTCCCTGGTCAGTGCTCCTCCCTGGTCAGTGT CCTCCTGGTCAGTGTCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGCT CCCTCCCTGGTCAGTGTCCTCCCTTGTCAGTGTCCTCCGTGGTCAGTGCT CCTCCCTGGTCAGTGTCCTCCTGGTCAGTGTCCTCCCTGGTCAGTGCTCC CTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTGGTCAATGCT CCCTCCCTGGTCAGTGT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0021 a0001c0025t0021	a0001c0025t0021g0119 a0001c0025t0021g0119	1	242	0.0041	416	c.147 others(437): Show c.1474-30595_1474-30594insGATCAGTGTCCTCCCTGGTCAATG CTCCTCCCTGGTCAGTGTCCTCCTGGTCAGTACTCCCTCCCTGGTCAATG CTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTGTTCAG TGCTCCCTCCCTGTTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTGGTC AGTGCTCCTCCCTGGTCAGTGTCCTCCTGGTCAGTGTCCTCCCTGGTCAG TGCTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTTGTC AGTGTCCTCCGTGGTCAGTGCTCCTCCCTGGTCAGTGTCCTCCTGGTCAG TGTCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTC AGTGTCCTCCCTGGTCAATGCTCCCTCCCTGGTCAGTGTCCT	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRD1_chr12_130948907_131146469	131046203	C C	CCCTGGTC others(409): Show CCCTGGTCAGTGTCCTCCCTGGTCAATGCTCCTCCCTGGTCAGTGTCCTC CTGGTCAGTACTCCCTCCCTGGTCAATGCTCCCTCCCTGGTCAGTGCTCC CTCCCTGGTCAGTGTCCTCCCTGTTCAGTGCTCCCTCCCTGTTCAGTGCT CCCTCCCTGGTCAGTGTCCTCCCTGGTCAGTGCTCCTCCCTGGTCAGTGT CCTCCTGGTCAGTGTCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTC CTCCCTGGTCAGTGTCCTCCGTGGTCAGTGCTCCTCCCTGGTCAGTGTCC TCCTGGTCAGTGTCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGCTCC CTCCCTGGTCAGTGTCCTCCCTGGTCAATGCTCCCTCCCTGGTCAGTGCT CCCTCCCTGGTCAGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0007 a0001c0010t0007	a0001c0010t0007g0213 a0001c0010t0007g0213	1	242	0.0041	416	c.147 others(437): Show c.1474-30595_1474-30594insGGTCAGTGTCCTCCCTGGTCAATG CTCCTCCCTGGTCAGTGTCCTCCTGGTCAGTACTCCCTCCCTGGTCAATG CTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTGTTCAG TGCTCCCTCCCTGTTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTGGTC AGTGCTCCTCCCTGGTCAGTGTCCTCCTGGTCAGTGTCCTCCCTGGTCAG TGCTCCCTCCCTGGTCAGTGTCCTCCCTGGTCAGTGTCCTCCGTGGTCAG TGCTCCTCCCTGGTCAGTGTCCTCCTGGTCAGTGTCCTCCCTGGTCAGTG CTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTGGTCAA TGCTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTCCT	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRD1_chr12_130948907_131146469	131046203	C C	CCCTGGTC others(409): Show CCCTGGTCAGTGTCCTCCCTGGTCAATGCTCCTCCCTGGTCAGTGTCCTC CTGGTCAGTACTCCCTCCCTGGTCAATGCTCCCTCCCTGGTCAGTGCTCC CTCCCTGGTCAGTGTCCTCCCTGTTCAGTGCTCCCTCCCTGTTCAGTGCT CCCTCCCTGGTCAGTGTCCTCCCTGGTCAGTGCTCCTCCCTGGTCAGTGT CCTCCTGGTCAGTGTCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTC CTCCCTTGTCAGTGTCCTCCGTGGTCAGTGCTCCTCCCTGGTCAGTGTCC TCCTGGTCAGTGTCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGCTCC CTCCCTGGTCAGTGTCCTCCCTGGTCAATGCTCCCTCCCTGGTCAGTGCT CCCTCCCTGGTCAGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(136): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01978.hp1 HG01981.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02896.hp2 HG02965.hp2 HG03098.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18906.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp1 NA19002.hp1 NA19002.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp2 NA19066.hp1 NA19066.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0011 others(1): Show a0001 a0002 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0001c0010 a0001c0014 a0001c0036 a0002c0027 a0002c0028 a0011c0038 a0012c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0023 a0001c0001t0027 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0010 a0001c0002t0025 a0001c0002t0040 a0001c0002t0046 a0001c0002t0048 a0001c0003t0002 a0001c0003t0004 a0001c0003t0006 a0001c0003t0012 a0001c0003t0033 a0001c0003t0034 a0001c0003t0035 a0001c0003t0041 a0001c0003t0044 a0001c0004t0002 a0001c0004t0005 a0001c0004t0009 a0001c0004t0015 a0001c0004t0024 a0001c0004t0043 a0001c0005t0001 a0001c0005t0008 a0001c0005t0014 a0001c0008t0001 a0001c0008t0003 a0001c0009t0004 a0001c0009t0014 a0001c0009t0019 a0001c0010t0007 a0001c0010t0039 a0001c0014t0004 a0001c0014t0012 a0001c0036t0003 a0002c0027t0001 a0002c0028t0001 a0011c0038t0002 a0012c0024t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0113 others(136): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0212 a0001c0001t0002g0005 a0001c0001t0002g0130 a0001c0001t0002g0149 a0001c0001t0002g0161 a0001c0001t0002g0172 a0001c0001t0002g0175 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0217 a0001c0001t0002g0228 a0001c0001t0002g0235 a0001c0001t0003g0026 a0001c0001t0005g0028 a0001c0001t0005g0045 a0001c0001t0005g0055 a0001c0001t0005g0087 a0001c0001t0009g0136 a0001c0001t0009g0137 a0001c0001t0009g0140 a0001c0001t0009g0144 a0001c0001t0009g0166 a0001c0001t0011g0033 a0001c0001t0011g0062 a0001c0001t0011g0066 a0001c0001t0011g0074 a0001c0001t0011g0220 a0001c0001t0015g0060 a0001c0001t0023g0143 a0001c0001t0027g0118 a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0125 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0157 a0001c0002t0001g0174 a0001c0002t0001g0195 a0001c0002t0001g0199 a0001c0002t0001g0210 a0001c0002t0002g0001 a0001c0002t0002g0006 a0001c0002t0002g0009 a0001c0002t0002g0106 a0001c0002t0003g0020 a0001c0002t0003g0032 a0001c0002t0003g0034 a0001c0002t0003g0038 a0001c0002t0003g0039 a0001c0002t0003g0041 a0001c0002t0003g0050 a0001c0002t0003g0053 a0001c0002t0003g0057 a0001c0002t0003g0061 a0001c0002t0003g0064 a0001c0002t0003g0068 a0001c0002t0003g0071 a0001c0002t0003g0073 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0081 a0001c0002t0003g0083 a0001c0002t0003g0085 a0001c0002t0005g0040 a0001c0002t0008g0016 a0001c0002t0010g0134 a0001c0002t0010g0138 a0001c0002t0010g0139 a0001c0002t0010g0167 a0001c0002t0010g0201 a0001c0002t0025g0141 a0001c0002t0040g0035 a0001c0002t0046g0084 a0001c0002t0048g0151 a0001c0003t0002g0186 a0001c0003t0004g0012 a0001c0003t0004g0101 a0001c0003t0004g0108 a0001c0003t0004g0198 a0001c0003t0004g0234 a0001c0003t0006g0015 a0001c0003t0006g0058 a0001c0003t0006g0092 a0001c0003t0006g0185 a0001c0003t0006g0211 a0001c0003t0006g0215 a0001c0003t0006g0216 a0001c0003t0012g0063 a0001c0003t0012g0088 a0001c0003t0033g0181 a0001c0003t0034g0014 a0001c0003t0035g0200 a0001c0003t0041g0080 a0001c0003t0044g0079 a0001c0004t0002g0004 a0001c0004t0002g0007 a0001c0004t0002g0011 a0001c0004t0002g0114 a0001c0004t0002g0155 a0001c0004t0002g0193 a0001c0004t0005g0036 a0001c0004t0005g0072 a0001c0004t0005g0082 a0001c0004t0005g0094 a0001c0004t0009g0168 a0001c0004t0015g0093 a0001c0004t0015g0099 a0001c0004t0024g0133 a0001c0004t0043g0024 a0001c0005t0001g0044 a0001c0005t0001g0127 a0001c0005t0001g0128 a0001c0005t0001g0206 a0001c0005t0001g0239 a0001c0005t0008g0226 a0001c0005t0014g0049 a0001c0008t0001g0170 a0001c0008t0001g0183 a0001c0008t0003g0059 a0001c0008t0003g0067 a0001c0009t0004g0103 a0001c0009t0014g0037 a0001c0009t0014g0078 a0001c0009t0019g0135 a0001c0010t0007g0150 a0001c0010t0039g0031 a0001c0014t0004g0105 a0001c0014t0012g0069 a0001c0036t0003g0075 a0002c0027t0001g0179 a0002c0028t0001g0022 a0011c0038t0002g0162 a0012c0024t0002g0196	139	242	0.5744	416	c.147 others(437): Show c.1474-30595_1474-30594insGGTCAGTGTCCTCCCTGGTCAATG CTCCTCCCTGGTCAGTGTCCTCCTGGTCAGTACTCCCTCCCTGGTCAATG CTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTGTTCAG TGCTCCCTCCCTGTTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTGGTC AGTGCTCCTCCCTGGTCAGTGTCCTCCTGGTCAGTGTCCTCCCTGGTCAG TGCTCCCTCCCTGGTCAGTGTCCTCCCTTGTCAGTGTCCTCCGTGGTCAG TGCTCCTCCCTGGTCAGTGTCCTCCTGGTCAGTGTCCTCCCTGGTCAGTG CTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTGGTCAA TGCTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTCCT	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRE2_chr19_14727392_14783560	14774674	T T	TTTTCTTT others(409): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0041 a0009c0018t0041	a0009c0018t0041g0102 a0009c0018t0041g0102	1	218	0.0046	416	c.32- others(429): Show c.32-369_32-368insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20			chr19	TogoVar
ADGRG2_chrX_18984307_19127468	19074563	T T	TCCTTCTC others(409): Show TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTCCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT TCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	188	0.0053	416	c.-1- others(431): Show c.-1-5729_-1-5728insGAAGAAGAAGAAGAAGAAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGGAAGAAGAAGGAAGAAGGAGAAGAAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
AFF2_chrX_148495617_149005663	148581415	T T	TACACGTA others(409): Show TACACGTATATACGTATACGTGTACACACATATATATACACGTATATATA CGTATACGTGTACACACACACACGTATATATACGTATACGTGTACACACA CACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACG TGTACACACACACGTATATATACGTATACGTGTACACACACACGTATATA TACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACACA CACGTATATACGTATACGTGTACACACACATACACGTATACACGTATACG TGTACACACATATACACGTATACGTGTACACACATATACACGTATACGTG TACACACATATACACGTATACGTGTACACACATATACACGTATACGTCTA CGTGTACACACATATAC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	169	0.0059	416	c.48- others(433): Show c.48-70582_48-70581insACGTATATACGTATACGTGTACACACAT ATATATACACGTATATATACGTATACGTGTACACACACACACGTATATAT ACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACAC ACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACGT GTACACACACACGTATATATACGTATACGTGTACACACACACGTATATAC GTATACGTGTACACACACACACGTATATACGTATACGTGTACACACACAT ACACGTATACACGTATACGTGTACACACATATACACGTATACGTGTACAC ACATATACACGTATACGTGTACACACATATACACGTATACGTGTACACAC ATATACACGTATACGTCTACGTGTACACACATATACAC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581415	T T	TACACGTA others(409): Show TACACGTATATACGTATACGTGTACACACATATATATACACGTATATATA CGTATACGTGTACACACACACACGTATATATACGTATACGTGTACACACA CACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACG TGTACACACACACGTATATATACGTATACGTGTACACACACACGTATATA TACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACA CACGTATATACGTATACGTGTACACACACACACGTATATACGTATACGTG TACACACACATACACGTATATACGTCTACGTGTACACACATATACACGTC TACGTGTACACACATATACACGTCTACGTGTACACACATATACACGTCTA CGTGTACACACATATAC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0063 a0001c0001t0003g0063	1	169	0.0059	416	c.48- others(433): Show c.48-70582_48-70581insACGTATATACGTATACGTGTACACACAT ATATATACACGTATATATACGTATACGTGTACACACACACACGTATATAT ACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACAC ACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACGT GTACACACACACGTATATATACGTATACGTGTACACACACACGTATATAT ACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACACAC ACGTATATACGTATACGTGTACACACACATACACGTATATACGTCTACGT GTACACACATATACACGTCTACGTGTACACACATATACACGTCTACGTGT ACACACATATACACGTCTACGTGTACACACATATACAC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
ALG13_chrX_111676170_111765649	111721071	A A	AAGAAGGA others(409): Show AAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAA TTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGA AGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCT TCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGA AGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCT TCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAA ACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTT CATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTT AATTCTTCCTTCTTCAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02559.hp2 others(2): Show HG02055.hp1 HG02451.hp1 HG02559.hp2 HG02922.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 others(2): Show a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0032	5	191	0.0262	416	c.132 others(432): Show c.1327-457_1327-42dupAACTTAATTCTTCCTTCTTCATAGAAGGA AGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCT TCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAA ACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTT CATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTT AATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATA GAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATT CTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAG GAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGA	ALG13	ENSG00000101901.13	transcript	ENST00000394780.8	protein_coding	11/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(409): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGA GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGAG GGGAGTCGACGAGTGGGAGGGGAGGGGAGGGGGGGTGGGAGGGGAGGGGG AGGGTGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAG GGGAAGGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGG GGGAGGGGAAGGCGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGG GGAGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp2 HG01071.hp1 others(13): Show HG00280.hp1 HG01070.hp2 HG01071.hp1 HG01169.hp1 HG01243.hp1 HG02027.hp2 HG03490.hp1 HG03492.hp2 NA18942.hp2 NA18947.hp2 NA18956.hp2 NA18984.hp2 NA18990.hp1 NA19002.hp1 NA19004.hp2 NA19082.hp2	a0004 a0011 a0004 a0011	a0004c0004 a0004c0006 a0011c0022 a0004c0004 a0004c0006 a0011c0022	a0004c0004t0001 a0004c0006t0001 a0011c0022t0001 a0004c0004t0001 a0004c0006t0001 a0011c0022t0001	a0004c0004t0001g0148 a0004c0004t0001g0162 a0004c0004t0001g0163 others(12): Show a0004c0004t0001g0148 a0004c0004t0001g0162 a0004c0004t0001g0163 a0004c0004t0001g0168 a0004c0004t0001g0169 a0004c0004t0001g0171 a0004c0004t0001g0172 a0004c0004t0001g0287 a0004c0004t0001g0288 a0004c0006t0001g0007 a0004c0006t0001g0108 a0004c0006t0001g0155 a0004c0006t0001g0156 a0004c0006t0001g0176 a0011c0022t0001g0164	16	350	0.0457	416	c.248 others(431): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TCGCCTCCCCCTCCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCT TCCCCTCGCCTTCCCCTCCCCCTTCTCTCACCTTCCCCTCCCCTCCCCCT CCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCACCCTCCCCCTCCCCTCC CACCCCCCCTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTCCCCCT CCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCTCCTCCCCTCACC TTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCCACCC GTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCTCCCACC CTTCCACTCCCCTCACCTCCTCCTCCCCCTCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKRD29_chr18_23593926_23667911	23615974	C C	CTATGTAT others(409): Show CTATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTC TACACATACCGTATGTATGTATGCATACTCTACACATACCGTATGTATGT ATGCATACTCTACACATACCGTATGTATGTATGCATACTCTACACATACC GTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTCTACA CATACCGTATGTATGTATGCATACTCTACACATACCGTATGTATGTATGC ATACTCTACACATACCGTATGTATGTATGCATACTCTACACATACCGTAT GTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTCTACA CATACCGTATGTATGTATGCATACTCTACACATACCGTATGTATGTATGC ATACTCTACACATACCG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0328 a0001c0001t0006g0328	1	352	0.0028	416	c.723 others(433): Show c.723+1757_723+1758insCGGTATGTGTAGAGTATGCATACATACA TACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATG CATACATACATACGGTATGTGTAGAGTATGCATACATACATACGGTATGT GTAGAGTATGCATACATACATACGGTATGTGTAGAGTATGCATACATACA TACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATG CATACATACATACGGTATGTGTAGAGTATGCATACATACGGTATGTGTAG AGTATGCATACATACATACGGTATGTGTAGAGTATGCATACATACATACG GTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATGCATA CATACATACGGTATGTGTAGAGTATGCATACATACATA	ANKRD29	ENSG00000154065.17	transcript	ENST00000592179.6	protein_coding	8/9			chr18	TogoVar
ANKRD29_chr18_23593926_23667911	23616126	A A	ATGTATGT others(409): Show ATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTCTA CACATACCGTATGTATGTATGCATACTCTACACATACCGTATGTATGTAT GCATACTCTACACATACCGTATGTATGTATGCATACTCTACACATACCGT ATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTCTA CACATACCGTATGTATGTATGCATACTCTACACATACCGTATGTATGTAT GCATACTCTACACATACCGTATGTATGTATGCATACTCTACACATACCGT ATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTCTA CACATACCGTATGTATGTATGCATACTCTACACATACCGTATGTATGTAT GTATACTCTACACATAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01069.hp2 HG01071.hp1 others(34): Show HG00408.hp2 HG01069.hp2 HG01071.hp1 HG01109.hp2 HG01358.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG02015.hp1 HG02040.hp1 HG02602.hp2 HG02698.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG03209.hp2 HG03453.hp1 NA18747.hp2 NA18949.hp2 NA18956.hp1 NA18959.hp1 NA18964.hp2 NA18971.hp1 NA18975.hp2 NA18991.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19010.hp2 NA19012.hp1 NA19058.hp1 NA19062.hp1 NA19074.hp2 NA19084.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 others(3): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0020	a0001c0001t0003g0047 a0001c0001t0003g0064 a0001c0001t0003g0065 others(33): Show a0001c0001t0003g0047 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0070 a0001c0001t0003g0075 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0083 a0001c0001t0003g0087 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0162 a0001c0001t0003g0171 a0001c0001t0003g0203 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0287 a0001c0001t0003g0289 a0001c0001t0007g0008 a0001c0001t0007g0063 a0001c0001t0007g0066 a0001c0001t0007g0067 a0001c0001t0010g0025 a0001c0001t0011g0056 a0001c0001t0011g0060 a0001c0001t0011g0082 a0001c0001t0012g0032 a0001c0001t0020g0320 a0001c0001t0020g0321	37	352	0.1051	416	c.723 others(433): Show c.723+1605_723+1606insGTATGTGTAGAGTATACATACATACATA CGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATGCA TACATACATACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGT AGAGTATGCATACATACATACGGTATGTGTAGAGTATGCATACATACATA CGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATGCA TACATACATACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGT AGAGTATGCATACATACATACGGTATGTGTAGAGTATGCATACATACATA CGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATGCA TACATACATACGGTATGTGTAGAGTATGCATACATACA	ANKRD29	ENSG00000154065.17	transcript	ENST00000592179.6	protein_coding	8/9			chr18	TogoVar
ANKRD30B_chr18_14743172_14859667	14855936	C C	CCTGGCAG others(409): Show CCTGGCAGAGGCGCTCCTCACCTCCCAGATGATGGGCAGCTGGGCAAAGG CGCTCCTCACCTCCCAGACTGGGCGGCCAGGCAGAGGTGCTCCTCGCCTC CCACATGGGGTGGCCGGGCAGAGGCGCTCCTCACCTCCTAGATGGGGTGG CCGGGCAGAGGCGCTCCTCACCTCCCAGACGGGGAGACCAGGAAGAGGTG CTCCTCACTTCCCAGATGGGACGGCCAGGCAGAGGCGCTCCTCACTTCCC AGATGGTGTGTCATCCGTGAAGAGGCGCTTCTCACCTCCCAGATGATTGG CAGCCAGAGAAAGGTGCTCCTCACTTCCCAGATGGGGCGGCCGAGAAATG CCACTCCCCATTCCCAGATGGGGTGGAGGTCAGGCAGAGGCGCTCCTCAC CTCCCAGATGGGGCGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18951.hp2 NA18952.hp1 others(2): Show NA18943.hp2 NA18951.hp2 NA18952.hp1 NA18957.hp1 NA18974.hp2	a0002 a0015 a0002 a0015	a0002c0002 a0015c0048 a0002c0002 a0015c0048	a0002c0002t0001 a0015c0048t0001 a0002c0002t0001 a0015c0048t0001	a0002c0002t0001g0132 a0002c0002t0001g0137 a0002c0002t0001g0140 others(2): Show a0002c0002t0001g0132 a0002c0002t0001g0137 a0002c0002t0001g0140 a0002c0002t0001g0144 a0015c0048t0001g0096	5	316	0.0158	416	c.17 others(427): Show c.1778_*1779insCTGGCAGAGGCGCTCCTCACCTCCCAGATGATGG GCAGCTGGGCAAAGGCGCTCCTCACCTCCCAGACTGGGCGGCCAGGCAGA GGTGCTCCTCGCCTCCCACATGGGGTGGCCGGGCAGAGGCGCTCCTCACC TCCTAGATGGGGTGGCCGGGCAGAGGCGCTCCTCACCTCCCAGACGGGGA GACCAGGAAGAGGTGCTCCTCACTTCCCAGATGGGACGGCCAGGCAGAGG CGCTCCTCACTTCCCAGATGGTGTGTCATCCGTGAAGAGGCGCTTCTCAC CTCCCAGATGATTGGCAGCCAGAGAAAGGTGCTCCTCACTTCCCAGATGG GGCGGCCGAGAAATGCCACTCCCCATTCCCAGATGGGGTGGAGGTCAGGC AGAGGCGCTCCTCACCTCCCAGATGGGGCGGG	ANKRD30B	ENSG00000180777.15	transcript	ENST00000690538.1	protein_coding		1270		chr18	TogoVar
ARHGEF10_chr8_1818926_1963641	1955312	T T	TAGGTGCT others(409): Show TAGGTGCTCCCTGAAAGGAGGCGCACTCTCACTGTTTGTCTGGATGGGTA GCTAGGTGCATCCTGAAAGGAGGTGCACTCTCACTGTTTCTCTGGATGGG TAGCGAGGTGCTCCCTGAAAGGAGGTGCACTCACTGTGTTTCTCTGGATG GGTAGCTAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTTCTCTGGA TGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGCACTCACTGTGTTTCTCTG GATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTTCTC TGGATGGGTAGCTAGGAGCATCCTGAAAGGAAGTGCACTCTCACTGTTTC TCTGGATGGGTAGCTAGGAGCATCCTGAAAGGAGGTGCACTCTCACTGTT TCTCTGGATGGGTAGCG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG02056.hp1 others(13): Show HG01516.hp2 HG01517.hp1 HG02056.hp1 HG02155.hp1 HG02647.hp1 HG03017.hp1 HG03540.hp2 NA18943.hp1 NA18948.hp1 NA18951.hp2 NA18962.hp1 NA18966.hp2 NA19000.hp2 NA19009.hp1 NA19012.hp2 NA19057.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0004 a0001c0008 others(9): Show a0001c0001 a0001c0004 a0001c0008 a0001c0100 a0001c0110 a0001c0115 a0001c0131 a0001c0157 a0002c0017 a0002c0032 a0002c0059 a0007c0147	a0001c0001t0002 a0001c0001t0004 a0001c0004t0002 others(10): Show a0001c0001t0002 a0001c0001t0004 a0001c0004t0002 a0001c0008t0004 a0001c0100t0072 a0001c0110t0046 a0001c0115t0005 a0001c0131t0005 a0001c0157t0006 a0002c0017t0002 a0002c0032t0004 a0002c0059t0002 a0007c0147t0002	a0001c0001t0002g0271 a0001c0001t0004g0158 a0001c0001t0004g0159 others(13): Show a0001c0001t0002g0271 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0004t0002g0240 a0001c0004t0002g0241 a0001c0004t0002g0340 a0001c0008t0004g0136 a0001c0100t0072g0199 a0001c0110t0046g0107 a0001c0115t0005g0286 a0001c0131t0005g0301 a0001c0157t0006g0093 a0002c0017t0002g0237 a0002c0032t0004g0173 a0002c0059t0002g0280 a0007c0147t0002g0004	16	363	0.0441	416	c.352 others(435): Show c.3521-1426_3521-1425insGAAAGGAGGCGCACTCTCACTGTTTG TCTGGATGGGTAGCTAGGTGCATCCTGAAAGGAGGTGCACTCTCACTGTT TCTCTGGATGGGTAGCGAGGTGCTCCCTGAAAGGAGGTGCACTCACTGTG TTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGCACTCTCAC TGTTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGCACTCAC TGTGTTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGCACTC TCACTGTTTCTCTGGATGGGTAGCTAGGAGCATCCTGAAAGGAAGTGCAC TCTCACTGTTTCTCTGGATGGGTAGCTAGGAGCATCCTGAAAGGAGGTGC ACTCTCACTGTTTCTCTGGATGGGTAGCGAGGTGCTCCCT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARID1B_chr6_156772378_157215779	157147298	A A	ACCCTGCC others(409): Show ACCCTGCCCGCCTTCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGGCCCT CACCCCAGCCTCCGACCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCC TGCCCTCCGTCCCCCACCCCCGCCTCCGACCCTGCCCTCCGTCCCCCACC CCCGCCTCCGGCCCTGCCCTCCGTCCCTCACCCCCGCCTCCGACCCTGCC CTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCG CCTCCGGCCGTGTCCTCCGTCCCCCACCCCAGCCTCCGGCCCTGCCCTCC GTCCCTCACCTCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTC CGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGTCCTCCGTCC CCCACCCCAGCCTCCGG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0136 a0001c0001t0006g0136	1	150	0.0067	416	c.276 others(435): Show c.2762-1318_2762-1317insGCCTTCCCTCACCCCCGCCTCCGGCC CTGCCCTCCGGCCCTCACCCCAGCCTCCGACCCTGCCCTCCGTCCCCCAC CCCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGACCCTGC CCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCTCACCCCC GCCTCCGACCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCTC CGTCCCCCACCCCCGCCTCCGGCCGTGTCCTCCGTCCCCCACCCCAGCCT CCGGCCCTGCCCTCCGTCCCTCACCTCCGCCTCCGGCCCTGCCCTCCGTC CCCCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGG CCCTGTCCTCCGTCCCCCACCCCAGCCTCCGGCCCTGCCC	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARID1B_chr6_156772378_157215779	157147354	C C	CGCCTCCG others(409): Show CGCCTCCGACCCTGCCCTCCGTCCCTCACCTCCGCCTCCGACCCTGACCT CCGTCCCTCACCCCCGCCTCCGGCCCTGACCTCCGTCCCTCACCTCCGCC TCCGACCCTGCCCTCCGTCCCTCACCTCCGCCTCCGGCCCTGCCCGCCGT CCCTCACCCCCGCCTCCGGCCCTGCCCGCCGTCCCCCACCCCCGCCTCCG ACCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCC CACCCCCGCCTCCGACCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCC TGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCCCACC CCCGCCTCCGGCCCTGCCCGCCAGCCCTCACCCCCGCCTCCGACCCTGCC CTCCGTCCCCCACCCCA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	150	0.0067	416	c.276 others(435): Show c.2762-1263_2762-1262insACCCTGCCCTCCGTCCCTCACCTCCG CCTCCGACCCTGACCTCCGTCCCTCACCCCCGCCTCCGGCCCTGACCTCC GTCCCTCACCTCCGCCTCCGACCCTGCCCTCCGTCCCTCACCTCCGCCTC CGGCCCTGCCCGCCGTCCCTCACCCCCGCCTCCGGCCCTGCCCGCCGTCC CCCACCCCCGCCTCCGACCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGC CCTGCCCTCCGTCCCCCACCCCCGCCTCCGACCCTGCCCTCCGTCCCCCA CCCCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTG CCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCGCCAGCCCTCACCCC CGCCTCCGACCCTGCCCTCCGTCCCCCACCCCAGCCTCCG	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARID1B_chr6_156772378_157215779	157147354	C C	CGCCTCCG others(409): Show CGCCTCCGACCCTGCCCTCCGTCCCTCACCTCCGCCTCCGACCCTGACCT CCGTCCCTCACCCCCGCCTCCGGCCCTGACCTCCGTCCCTCACCTCCGCC TCCGACCCTGCCCTCCGTCCCTCACCTCCGCCTCCGGCCCTGCCCGCCGT CCCTCACCTCCGCCTCCGGCCCTGCCCGCCGTCCCCCACCCCCGCCTCCG ACCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCC CACCCCCGCCTCCGACCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCC TGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCCCACC CCCGCCTCCGGCCCTGCCCGCCAGCCCTCACCCCAGCCTCCGACCCTGCC CTCCGTCCCCCACCCCA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	150	0.0067	416	c.276 others(435): Show c.2762-1263_2762-1262insACCCTGCCCTCCGTCCCTCACCTCCG CCTCCGACCCTGACCTCCGTCCCTCACCCCCGCCTCCGGCCCTGACCTCC GTCCCTCACCTCCGCCTCCGACCCTGCCCTCCGTCCCTCACCTCCGCCTC CGGCCCTGCCCGCCGTCCCTCACCTCCGCCTCCGGCCCTGCCCGCCGTCC CCCACCCCCGCCTCCGACCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGC CCTGCCCTCCGTCCCCCACCCCCGCCTCCGACCCTGCCCTCCGTCCCCCA CCCCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTG CCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCGCCAGCCCTCACCCC AGCCTCCGACCCTGCCCTCCGTCCCCCACCCCAGCCTCCG	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARID1B_chr6_156772378_157215779	157147362	G G	GCCCTGCC others(409): Show GCCCTGCCCGCCAGCCCTCACCCCCGCCTCCGACCCTGCCCGCCTTCCCT CACCCCCGCCTCCGGCCCTGCCCTCCGGCCCTCACCCCAGCCTCCGACCC TGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCTCACC CCCGCCTCCGGCCCTGTTCTCCGTCCCCCACCCCAGCCTCCGGCCCTGCC CTCCGTCCCCCACCCCCGCCTCCGACCCTGCCCTCCGTCCCCCACCCCCG CCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGACCCTGCCCTCC GTCCCCCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTC CGGCCCTGCCCGCCAGCCCTCACCCCCGCCTCCGACCCTGCCGTCCGTCC CCCACCCCAGCCTCCGA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	150	0.0067	416	c.276 others(435): Show c.2762-1223_2762-1222insCGCCTTCCCTCACCCCCGCCTCCGGC CCTGCCCTCCGGCCCTCACCCCAGCCTCCGACCCTGCCCTCCGTCCCCCA CCCCCGCCTCCGGCCCTGCCCTCCGTCCCTCACCCCCGCCTCCGGCCCTG TTCTCCGTCCCCCACCCCAGCCTCCGGCCCTGCCCTCCGTCCCCCACCCC CGCCTCCGACCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCT CCGTCCCCCACCCCCGCCTCCGACCCTGCCCTCCGTCCCCCACCCCCGCC TCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCGCCAG CCCTCACCCCCGCCTCCGACCCTGCCGTCCGTCCCCCACCCCAGCCTCCG ACCCTGCCCGCCAGCCCTCACCCCCGCCTCCGACCCTGCC	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(409): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGTGCAGCCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCC CCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CAGCCCCCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0024 a0001c0003t0001g0024	1	391	0.0026	416	c.36 others(427): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCC CGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCC AGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCC AGGCCCCGACGCGTGCAGCCCCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
B3GNTL1_chr17_82937149_83056770	82971698	A A	ACAGGGGC others(409): Show ACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACTCATAGGGGCCA GAAGGACCCGGTACTGACCACACCACACCACAGGGGCCAGAAGGACCCGG TACTGACCACACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACACAC CACACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGG GGCTAGAAGGACCTGGTGCCGACCACACCACACCATGGGCCAGAAGGACC TGGTGCCGACCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACA CACCACACCAGGGGCTAGAAGGACCTGGTGCCGACACACCACACCAGGGG CCAGAAGGACCTGGTGCCGACCACACCACACCACGGGCCAGAAGGACCTG GAGCCGACACACCACAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0012 a0001c0013t0012	a0001c0013t0012g0014 a0001c0013t0012g0014	1	266	0.0038	416	c.460 others(433): Show c.460-5953_460-5952insGTGTGGTGTGTCGGCTCCAGGTCCTTCT GGCCCGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGGTGTG GTGTGTCGGCACCAGGTCCTTCTAGCCCCTGGTGTGGTGTGTCGGCACCA GGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGG CCCATGGTGTGGTGTGGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTG GTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGTCGGCA CCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTCCTTC TGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTCCTTCTGGCCCCTATG AGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B4GALNT4_chr11_364499_387117	374952	G G	GAGGGAGG others(409): Show GAGGGAGGGAGGAGGGAGGGAGGGAGGAGGGATGGAGGGAGGAGGAAGGG AGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAAGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGG GAGGAGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0052 a0002c0002t0001g0052	1	184	0.0054	416	c.784 others(431): Show c.784-495_784-494insGAGGGAGGGAGGAGGGATGGAGGGAGGAGG AAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAAGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAG GGAGGGAGGAGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1423659	C C	CTGCCCCA others(409): Show CTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCC GCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG GGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCC GGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCC CCGCTGGGCGTTCCGGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp2 HG02818.hp1 HG02818.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0234 a0002c0002t0002g0035 a0001c0001t0003g0234 a0002c0002t0002g0035	2	360	0.0056	416	c.92- others(433): Show c.92-12374_92-12373insGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG GGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCC GGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCC CCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGT GCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1423659	C C	CTGCCCCA others(409): Show CTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCC GCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG TGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCC GGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCC CCGCTGGGCGTTCCGGG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0032 a0002c0011t0002g0032	1	360	0.0028	416	c.92- others(433): Show c.92-12374_92-12373insGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG GGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGTGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCC GGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCC CCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGT GCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1423659	C C	CTGCCCCA others(409): Show CTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCC GCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGTGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG GGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCC GGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCC CCGCTGGGCGTTCCGGG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01070.hp2 HG01109.hp2 others(17): Show HG00642.hp1 HG01070.hp2 HG01109.hp2 HG01433.hp2 HG02451.hp1 HG02486.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG06807.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0017 a0001c0001 a0002c0002 a0002c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0062 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0062 a0002c0002t0002 a0002c0002t0016 a0002c0002t0069 a0002c0017t0052	a0001c0001t0001g0044 a0001c0001t0001g0312 a0001c0001t0003g0199 others(17): Show a0001c0001t0001g0044 a0001c0001t0001g0312 a0001c0001t0003g0199 a0001c0001t0003g0230 a0001c0001t0003g0232 a0001c0001t0003g0235 a0001c0001t0003g0238 a0001c0001t0062g0257 a0002c0002t0002g0013 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0031 a0002c0002t0002g0033 a0002c0002t0002g0126 a0002c0002t0016g0207 a0002c0002t0016g0208 a0002c0002t0016g0240 a0002c0002t0069g0231 a0002c0017t0052g0008	20	360	0.0556	416	c.92- others(433): Show c.92-12374_92-12373insGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG GGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGTGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCC GGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCC CCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGT GCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C1QTNF12_chr1_1237453_1251722	1245158	C C	CCTCTGCC others(409): Show CCTCTGCCCTCCTCCCCCTTCCCCCTCCCTCCCCCCACTCCTCTCCCCTC TTCCCCCGACTCCTTCCCCTACTCATCTCCCTCCTCCCCCACTCCTCTCC CCTCCTCTCCCACTCCTCCCCCTCCTCCCCCACTCCTCCCCCCACTGCTC TCACCCTCTTCCCCCCACTCCTCCCCCACTCCTCTCCCTCCTTCTCCACT CCTCTCCCCTCCCACTCCTCCCCCCACTCCTGTCCCCTCCTCCCCCCCTC TTCCCCTCCTCCCCCCACTACATCTATCTCCCTCCTCCCACTCCTCTCCC CTCTTCCTCCCACTCCCCCCACTTCCTCCCCCACTCCTCTCCCCTCTTGC CCCCACTCCTCCCCCACTCCTTCCCCACTCCTCTCCTCTCTTCCCCCCAC TCCTCCCCCACTCCTCT	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0108 a0002c0002t0002g0108	1	328	0.0031	416	c.178 others(431): Show c.178-662_178-661insAGAGGAGTGGGGGAGGAGTGGGGGGAAGAG AGGAGAGGAGTGGGGAAGGAGTGGGGGAGGAGTGGGGGCAAGAGGGGAGA GGAGTGGGGGAGGAAGTGGGGGGAGTGGGAGGAAGAGGGGAGAGGAGTGG GAGGAGGGAGATAGATGTAGTGGGGGGAGGAGGGGAAGAGGGGGGGAGGA GGGGACAGGAGTGGGGGGAGGAGTGGGAGGGGAGAGGAGTGGAGAAGGAG GGAGAGGAGTGGGGGAGGAGTGGGGGGAAGAGGGTGAGAGCAGTGGGGGG AGGAGTGGGGGAGGAGGGGGAGGAGTGGGAGAGGAGGGGAGAGGAGTGGG GGAGGAGGGAGATGAGTAGGGGAAGGAGTCGGGGGAAGAGGGGAGAGGAG TGGGGGGAGGGAGGGGGAAGGGGGAGGAGGGCAGAG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
C1orf159_chr1_1076823_1121089	1080912	C C	CCTCGGTC others(409): Show CCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCT TCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTC GGTCCCTGTCTCCTTCCCTCCGCCCCCATCTCTGTCCCTGTCTCCTTCCC TCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTC CCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCG CCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTG TCTCCTTCCCTCCGCCCCCATCTCTGTCCCTGTCTCCTTCCCTCCGCCCC CACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTC CTTCCCTCTGCTCCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0307 a0001c0001t0009g0307	1	326	0.0031	416	c.19 others(427): Show c.1980_*1981insATGGGAGCAGAGGGAAGGAGACAGGGACCGAGGT GGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAG ACAGGGACAGAGATGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGG GCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAG GGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGG AGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGAC AGAGATGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGG AAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAG GTGGGGGCGGAGGGAAGGAGACAGGGACCGAG	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		910		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1080916	G G	GGTCCCTG others(409): Show GGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCC TCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTC CCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCG CCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTG TCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCC CACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTC CTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACC TCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTC CCTCCGCCCCCATCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01358.hp1 HG01496.hp1 others(2): Show HG01123.hp1 HG01358.hp1 HG01496.hp1 HG04199.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0015 a0001c0001t0001g0051 a0001c0001t0001g0089 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0051 a0001c0001t0001g0089 a0001c0001t0001g0221 a0001c0001t0011g0032	5	326	0.0153	416	c.19 others(427): Show c.1976_*1977insAGAGATGGGGGCGGAGGGAAGGAGACAGGGACCG AGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAA GGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGT GGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAG ACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGG GCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAG GGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGG AGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGAC CGAGGTGGGGGCGGAGGGAAGGAGACAGGGAC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		906		chr1	TogoVar
CALN1_chr7_71774491_72417338	72209189	T T	TTTCCTTC others(409): Show TTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCC TCCTTCCCTCCTTCCCTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTC CTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCT TCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTC TTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCT TCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTC CTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCT TCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTC CCTCCTTCCTTCCCTCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0126 a0001c0001t0018g0126	1	142	0.0070	416	c.244 others(435): Show c.244+69496_244+69497insGGAGGGAAGGAAGGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAA GGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGG AAGGAAGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAA GGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGG AGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAA GGAAGGAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGG AAGGAGGGAAGGAGGGAAGGACGGAGGGAAGGAGGGAAGGAGGGAAGGAA GGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72209301	T T	TTTCCTTC others(409): Show TTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCT TCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTC CTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCT TCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCTTC CCTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCT TCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTC TTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCC TCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCTTCCCTCCTTC CCTCTTTCCTTCCCTCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0026 a0001c0001t0015g0026	1	142	0.0070	416	c.244 others(435): Show c.244+69384_244+69385insGGAGGGAAGGAAAGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAA AGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGG AGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAG GGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGG AGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAA GGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGG AAGGAGGGAAGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAGGAG GGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMKK2_chr12_121232692_121301709	121255266	A A	ATATATAT others(409): Show ATATATATAATTATATATATAATTATATATATAATTATATATTTTTATAT ATATAATTATATATATAATTTTATATATATAATTATATATAATTATATAT ATATAATTATATATATTATATATATAATTATATATATATATTATATATAT AATTTTATATATATATAATTATATATATAATTTTATATATATAATTATAT ATATATAAAATTATATATATAATTTTATATATAAAATTATATATATAATT TTATATATATAATTATATATATAATTTTATATATATATAATTATATATAT ATAATTTTATATATATAATTATATATATATAATTTTATATATATATAATT ATATATATATAATTTTATATATATATAATTATATATAATTTTATATATAT ATAATTATATATATAAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0002 a0002c0026t0002	a0002c0026t0002g0294 a0002c0026t0002g0294	1	330	0.0030	416	c.907 others(431): Show c.907+283_907+284insATTATATATATAATTATATATATATAAAAT TATATATAATTATATATATATAAAATTATATATATATAATTATATATATA TAAAATTATATATATATAATTATATATATAAAATTATATATATATAATTA TATATATATAAAATTATATATATAATTATATATATAAAATTATATATATA ATTTTATATATAAAATTATATATATAATTTTATATATATATAATTATATA TATAAAATTATATATATAATTATATATATATAAAATTATATATATAATAT ATATATATAATTATATATATAATATATATAATTATATATATATAATTATA TATAATTATATATATAAAATTATATATATAATTATATATATAAAAATATA TAATTATATATATAATTATATATATAATTATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar

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Search Results (Total: 10000 hits)