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
CD247_chr1_167425640_167523529	167434947	C C	CTCCTCCA others(399): Show CTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCT TCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCC TCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTT CCTTCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTCC TCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCC TCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCT CCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTC CGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTC CAGCCCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG00642.hp2 others(7): Show HG00438.hp1 HG00597.hp2 HG00642.hp2 HG00741.hp1 HG01192.hp1 HG02083.hp1 HG02165.hp2 NA18944.hp2 NA18959.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0076 a0001c0001t0003g0119 a0001c0001t0003g0123 others(7): Show a0001c0001t0003g0076 a0001c0001t0003g0119 a0001c0001t0003g0123 a0001c0001t0003g0129 a0001c0001t0003g0157 a0001c0001t0003g0165 a0001c0001t0003g0168 a0001c0001t0003g0258 a0001c0001t0003g0262 a0001c0001t0003g0341	10	374	0.0267	406	c.336 others(421): Show c.336+451_336+452insAGGGCTGGAGGAGGGCTCCGGAGGAAGGGC TGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCT GGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCC GGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTG GAGGAAGGGCTGGAGGAGGGCTCCGGAGGAGGGCTGGAGGAAGGGCTGGA GGAGGGCTCCGGAGGAAGGGCTGAAGGAAGGGCTGGAGGAGGGCTCCGGA GGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAG GAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGG AGGGCTCCGGAGGAAGGGCTGGAGGA	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7			chr1	TogoVar
CD247_chr1_167425640_167523529	167435100	C C	TCAGCCCT others(399): Show TCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTCCTCC GGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCC AGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCA GCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGG AGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAG CCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGC CCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAG CCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCC CTTCCTC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA19086.hp1 NA18967.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0199 a0001c0001t0003g0033 a0001c0001t0003g0199	2	374	0.0054	406	c.336 others(421): Show c.336+299_336+300insAGGAAGGGCTGGAGGAGGGCTCCGGAGGAA GGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAG GGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGG CTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGG GCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGG CTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCT CCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGC TGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAGGGCTGGAGGAAGGGCTG GAGGAGGGCTCCGGAGGAAGGGCTGA	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7			chr1	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(399): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCC TCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCT CTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCC CCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCT CCCCTCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0244 a0001c0001t0003g0244	1	256	0.0039	406	c.-45 others(427): Show c.-455+14589_-455+14590insCTCCCCTCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCCTCCCCT CTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTC TCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCC CCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTC TCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CIP2A_chr3_108544864_108594438	108575549	T T	TGTGTGTA others(399): Show TGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACACG TATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATA CATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACA CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACACGTATATATACT CATATAC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18987.hp2 NA19090.hp1 NA18972.hp2 NA18987.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0239 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0239	3	372	0.0081	406	c.894 others(421): Show c.894+721_894+722insGTATATGAGTATATATACGTGTATATACAC ACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTAT ATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATAC ACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGT ATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATAT ACACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGA GTATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTAT ATACACACATGTATATGAGTATATATACGTGTATATACACACATGTATAT GAGTATATATACGTGTATATACACAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575597	T T	CGTATATA others(399): Show CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACACGTATATATACT CATATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTA TATACACGTATATATACTCATATACGTGTGTATATACACGTATATATACT CATATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTA TATACGT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	372	0.0027	406	c.894 others(421): Show c.894+674_894+675insCGTATATACACACATGTATATGAGTATATA TACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACA CGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATA TACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACA CATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATA TATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACA CACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTA TATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATA CACACATGTATATGAGTATATATACG	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575631	T T	TATATATA others(399): Show TATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATA CATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACA CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACACGTATATATACT CATATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTA TATACAC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	372	0.0027	406	c.894 others(421): Show c.894+639_894+640insGTGTATATACACACATGTATATGAGTATAT ATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACAC ACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTAT ATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATAC ACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGT ATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATAT ACACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGA GTATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTAT ATACACACATGTATATGAGTATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575820	A A	ATGTGTAT others(399): Show ATGTGTATATACACGCGTATATATACTCATACATGTGTATATACACGCGT ATATATACTCATATACATGTGTATATACACGCGTATATATACTCATATAC ATGTGTATATACACGCGTATATATACTCATATACATGTGTATATACACGC GTATATATACTCATATACATGAGTATATACACGCGTATATATACTCATAT ACATGTGTATATACACGCGTATATATACTCATATACATGTGTATATACAC GCGTATATATACTCATATACATGTGTGTATACACGCGTATATATACTCAT ATACATGTGTGTATACACGCGTATATATACTCATATACATGTGTGTATAC ACGCGTATATATACTCATATACATGTGTGTATACACGTATATATACTCAT ATACATG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	372	0.0027	406	c.894 others(421): Show c.894+450_894+451insCATGTATATGAGTATATATACGTGTATACA CACATGTATATGAGTATATATACGCGTGTATACACACATGTATATGAGTA TATATACGCGTGTATACACACATGTATATGAGTATATATACGCGTGTATA CACACATGTATATGAGTATATATACGCGTGTATATACACATGTATATGAG TATATATACGCGTGTATATACACATGTATATGAGTATATATACGCGTGTA TATACTCATGTATATGAGTATATATACGCGTGTATATACACATGTATATG AGTATATATACGCGTGTATATACACATGTATATGAGTATATATACGCGTG TATATACACATGTATATGAGTATATATACGCGTGTATATACACATGTATG AGTATATATACGCGTGTATATACACA	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575863	C C	CACGCGTA others(399): Show CACGCGTATATATACTCATATACATGTGTATATACACGCGTATATATACT CATATACATGTGTATATACACGCGTATATATACTCATATACATGAGTATA TACACGCGTATATATACTCATATACATGAGTATATACACGCGTATATATA CTCATATACATGTGTATATACACGCGTATATATACTCATATACATGTGTA TATACACGCGTATATATACTCATATACATGTGTGTATACACGCGTATATA TACTCATATACATGTGTGTATACACGCGTATATATACTCATATACATGTG TGTATACACGCGTATATATACTCATATACATGTGTGTATACACGTATATA TACTCATATACATGTGTGTATATACATGTATATATACTCATATACATGTG TGTATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp2 HG01981.hp2 HG00639.hp2 HG01074.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206	3	372	0.0081	406	c.894 others(421): Show c.894+407_894+408insATATACACACATGTATATGAGTATATATAC ATGTATATACACACATGTATATGAGTATATATACGTGTATACACACATGT ATATGAGTATATATACGCGTGTATACACACATGTATATGAGTATATATAC GCGTGTATACACACATGTATATGAGTATATATACGCGTGTATACACACAT GTATATGAGTATATATACGCGTGTATATACACATGTATATGAGTATATAT ACGCGTGTATATACACATGTATATGAGTATATATACGCGTGTATATACTC ATGTATATGAGTATATATACGCGTGTATATACTCATGTATATGAGTATAT ATACGCGTGTATATACACATGTATATGAGTATATATACGCGTGTATATAC ACATGTATATGAGTATATATACGCGT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575863	C C	CACGCGTA others(399): Show CACGCGTATATATACTCATATACATGTGTATATACACGCGTATATATACT CATATACATGTGTATATACACGCGTATATATACTCATATACATGAGTATA TACACGCGTATATATACTCATATACATGAGTATATACACGCGTATATATA CTCATATACATGTGTATATACACGCGTATATATACTCATATACATGTGTG TATACACGCGTATATATACTCATATACATGTGTGTATACACGCGTATATA TACTCATATACATGTGTGTATACACGCGTATATATACTCATATACATGTG TGTATACACGCGTATATATACTCATATACATGTGTGTATACACGTATATA TACTCATATACATGTGTGTATATACATGTATATATACTCATATACATGTG TGTATAT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	372	0.0027	406	c.894 others(421): Show c.894+407_894+408insATATACACACATGTATATGAGTATATATAC ATGTATATACACACATGTATATGAGTATATATACGTGTATACACACATGT ATATGAGTATATATACGCGTGTATACACACATGTATATGAGTATATATAC GCGTGTATACACACATGTATATGAGTATATATACGCGTGTATACACACAT GTATATGAGTATATATACGCGTGTATACACACATGTATATGAGTATATAT ACGCGTGTATATACACATGTATATGAGTATATATACGCGTGTATATACTC ATGTATATGAGTATATATACGCGTGTATATACTCATGTATATGAGTATAT ATACGCGTGTATATACACATGTATATGAGTATATATACGCGTGTATATAC ACATGTATATGAGTATATATACGCGT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575863	C C	CACGCGTA others(399): Show CACGCGTATATATACTCATATACATGTGTATATACACGCGTATATATACT CATATACATGTGTATATACACGCGTATATATACTCATATACATGTGTATA TACACGCGTATATATACTCATATACATGAGTATATACACGCGTATATATA CTCATATACATGTGTATATACACGCGTATATATACTCATATACATGTGTA TATACACGCGTATATATACTCATATACATGTGTGTATACACGCGTATATA TACTCATATACATGTGTGTATACACGCGTATATATACTCATATACATGTG TGTATACACGCGTATATATACTCATATACATGTGTGTATACACGTATATA TACTCATATACATGTGTGTATATACATGTATATATACTCATATACATGTG TGTATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01069.hp2 others(2): Show HG00140.hp1 HG00140.hp2 HG01069.hp2 HG03669.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 others(2): Show a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0009t0001g0220	5	372	0.0134	406	c.894 others(421): Show c.894+407_894+408insATATACACACATGTATATGAGTATATATAC ATGTATATACACACATGTATATGAGTATATATACGTGTATACACACATGT ATATGAGTATATATACGCGTGTATACACACATGTATATGAGTATATATAC GCGTGTATACACACATGTATATGAGTATATATACGCGTGTATACACACAT GTATATGAGTATATATACGCGTGTATATACACATGTATATGAGTATATAT ACGCGTGTATATACACATGTATATGAGTATATATACGCGTGTATATACTC ATGTATATGAGTATATATACGCGTGTATATACACATGTATATGAGTATAT ATACGCGTGTATATACACATGTATATGAGTATATATACGCGTGTATATAC ACATGTATATGAGTATATATACGCGT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
COL21A1_chr6_56051590_56252580	56098448	T T	TAAATATA others(399): Show TAAATATATAGAAATATATAAATATACATATAAATATATATAAATATATA TGTAAATATATAAATATATAAATATATATGTAAATATATAAATATATATA AATATATATATAAATATATATATATAAATATATATAAATATATAAATATA TATAAATACATATGTAAATATATAAATATATATAAATATATAAATATATA TAGATATATATATAAATATATATAAATATATATAGATATATATATAAATA TATATAAATATATATAGATATATATATAAATATATATAAATATATATAGA TATATATATAAATATATATAAATATATATAGATATATATAAATATATATA AATATATATAGATATATAGATATATATAAATATATATAGATATATAGATA TATATAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01167.hp2 HG00741.hp1 HG01167.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0004 a0001c0007t0002 a0001c0007t0004	a0001c0007t0002g0261 a0001c0007t0004g0077 a0001c0007t0002g0261 a0001c0007t0004g0077	2	264	0.0076	406	c.181 others(425): Show c.1812+3023_1812+3024insTTATATATATCTATATATCTATATAT ATTTATATATATCTATATATCTATATATATTTATATATATTTATATATAT CTATATATATTTATATATATTTATATATATATCTATATATATTTATATAT ATTTATATATATATCTATATATATTTATATATATTTATATATATATCTAT ATATATTTATATATATTTATATATATATCTATATATATTTATATATTTAT ATATATTTATATATTTACATATGTATTTATATATATTTATATATTTATAT ATATTTATATATATATATTTATATATATATTTATATATATTTATATATTT ACATATATATTTATATATTTATATATTTACATATATATTTATATATATTT ATATGTATATTTATATATTTCTATATATTT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL28A1_chr7_7352875_7540873	7474070	A A	AATATATA others(399): Show AATATATATATATGGAATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATGGAATATATATATATGGAATATA TATATATATGGAATATATATATATGGAATATATATATATATGGAATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0027 a0027	a0027c0042 a0027c0042	a0027c0042t0002 a0027c0042t0002	a0027c0042t0002g0089 a0027c0042t0002g0089	1	196	0.0051	406	c.130 others(423): Show c.1302+530_1302+531insATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATTCCATATATATATAT ATTCCATATATATATATTCCATATATATATATATTCCATATATATATATT CCATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATTCCATATATATATAT	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	15/34			chr7	TogoVar
COL4A1_chr13_110143963_110312157	110255668	C C	CAGGAAGG others(399): Show CAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAA GGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCA GGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGG GGAAGGCAGGAAGGGAGGAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAA GGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCA GGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGG AGGGGGA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0117 a0001c0020t0001g0117	1	344	0.0029	406	c.85- others(423): Show c.85-12935_85-12934insTCCCCCTCCCTTCCTGCCTTTCCCCTCC CTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTT CCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCTCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCC CCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTGCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTCCTCCTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTGCCTGCCCCCTCCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232250	G G	GTCACCAC others(399): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCT GCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCACCACTACCTGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTAC TGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACC ACCATTA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0082 a0002c0002t0001g0082	1	396	0.0025	406	c.513 others(421): Show c.513-927_513-926insTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTAC TGCTGCCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCC ACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACT ACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTG TCACCACTACCTGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
DTD1_chr20_18583054_18771644	18675842	A A	ATATTTAC others(399): Show ATATTTACACATATATATGTAAATATACCTATGTGTATGTTTACACATAT ATATGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAATAT ACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTAT GTTTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATAT ATATGTGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAAT ATACCTATGTGTATGTTTACACATATATGTGTAAATATACCTATGTGTAT GTTTACACATATATGTGTAAATATACCTATATGTTTACACATATATATGT GTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAATATACCT ATGTGTG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	398	0.0025	406	c.477 others(425): Show c.477+47644_477+47645insATGTTTACACATATATATGTAAATAT ACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTAT GTTTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATAT ATATGTGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAAT ATACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGT ATGTTTACACATATATGTGTAAATATACCTATGTGTATGTTTACACATAT ATGTGTAAATATACCTATATGTTTACACATATATATGTGTAAATATACCT ATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTGTATTT ACACATATATATGTAAATATACCTATGTGT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTD1_chr20_18583054_18771644	18675842	A A	ATATTTAC others(399): Show ATATTTACACATATATATGTAAATATACCTATGTGTATGTTTACACATAT ATATGTGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAAT ATACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGT ATGTTTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACAT ATATATGTGTAAATATACCTATGTGTATGTTTACACATATATGTGTAAAT ATACCTATGTGTATGTTTACACATATATGTGTAAATATACCTATGTGTAT GTTTACACATATATGTGTAAATATACCTATATGTTTACACATATATATGT GTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAATATACCT ATGTGTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03239.hp2 HG02280.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0052 a0001c0001t0005g0009 a0001c0001t0002g0052 a0001c0001t0005g0009	2	398	0.0050	406	c.477 others(425): Show c.477+47644_477+47645insATGTTTACACATATATATGTGTAAAT ATACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGT ATGTTTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACAT ATATATGTGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAA ATATACCTATGTGTATGTTTACACATATATGTGTAAATATACCTATGTGT ATGTTTACACATATATGTGTAAATATACCTATGTGTATGTTTACACATAT ATGTGTAAATATACCTATATGTTTACACATATATATGTGTAAATATACCT ATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTGTATTT ACACATATATATGTAAATATACCTATGTGT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DYNC2H1_chr11_103104426_103484863	103349967	T T	TAACATTA others(399): Show TAACATTAGAAAGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGC AAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGTAATTGA ACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACT GTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAA TGCTAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATA CATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGT ATAATAAAAAAAAAAAAAAAAAGAATTGTAAAAAAAAAAATTATAAATAA AACAAAGAAGAATATGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0165 a0003c0002t0001g0165	1	262	0.0038	406	c.120 others(427): Show c.12040-8262_12040-8261insGAAATTGGAAACCATCATTCTCAG TAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAG GTGGTAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACA CTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGA GATATACCTAATGCTAGATGACACATTAGTGGGTGCAGTGCACCAGCATG GCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTA AAACTTAGAGTATAATAAAAAAAAAAAAAAAAAGAATTGTAAAAAAAAAA ATTATAAATAAAACAAAGAAGAATATGAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAACATTAGAAAGAT	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	82/88		INFO_REALIGN_3_PRIME	chr11	TogoVar
EIPR1_chr2_3183970_3382818	3316036	A A	ATCACCAC others(399): Show ATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCC CCACACACACCCCCTACCACCATCCTCACCACCATCCCCATCCACACCCC CTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCAT CACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCCC ATCCACACCCCCTACCACCACCATCACCACCATCCCCATACACACCCCCT ACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCA CCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCAT CCACACCCCCTACCACCACCATCACCACCATCCCCATACACACCCCCACC ACCATCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02451.hp1 HG02559.hp1 others(1): Show HG01109.hp2 HG02451.hp1 HG02559.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 others(1): Show a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175	4	250	0.0160	406	c.259 others(425): Show c.259+21980_259+21981insGGATGGTGGTGGGGGTGTGTATGGGG ATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGG TGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGG TGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGTATGGGGAT GGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTG GTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTG TGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGG TGGTGAGGATGGTGGTAGGGGGTGTGTGTGGGGATGGTGGTGATGGTGGT GGTAGGGGGTGTGGATGGGGATGGTGGTGA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELOVL6_chr4_110040846_110203615	110084414	C C	CATGATAT others(399): Show CATGATATATGACATATGACATACATGATATATCACATATATCATATATG ATATATCACATATATCATATATGATATATCACATATCATATATGATATAT CACATATATCATATATATCACATATATCATATATATCACATATATCATAT ATATCACATATATCATATATATCACATATATCATATATGATATATCACAT ATATCATATATGATATATCACATATATCATATATGATATATCACATATAT CATATATGATATATCACATATATCATATATGATATATCACATATATCATA TATGATATATCACATATGATATATCACATATATCATATATGATATATCAC ATATATCATATATGATATATCACATATATCATATATGATATATCACATAT ATCATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0304 a0001c0001t0004g0304	1	338	0.0030	406	c.221 others(425): Show c.221+21082_221+21083insATATGATATATGTGATATATCATATA TGATATATGTGATATATCATATATGATATATGTGATATATCATATATGAT ATATGTGATATATCATATGTGATATATCATATATGATATATGTGATATAT CATATATGATATATGTGATATATCATATATGATATATGTGATATATCATA TATGATATATGTGATATATCATATATGATATATGTGATATATCATATATG ATATATGTGATATATATGATATATGTGATATATATGATATATGTGATATA TATGATATATGTGATATATATGATATATGTGATATATCATATATGATATG TGATATATCATATATGATATATGTGATATATCATATATGATATATGTGAT ATATCATGTATGTCATATGTCATATATCAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
FBXL14_chr12_1560993_1599581	1574499	G G	GGTGTGGG others(399): Show GGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGAT GGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCAGCGGTGTGGGTGGAGGCT GGGTGAGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGGGGA GGCTGGTGGCAGCAGTGTGGATGGAGGCTGGGGTGGGGGAGGCTGGCGGC AGCGGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCAGTGTG GATGGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCGGTGTGGATGGAGGCT GGGGTGAGGGGAGGCTGGTGGCAGCAGTGTGGATGGAGGCTGGGGTGGGG GAGGCTGGCGGCAGCGGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGT GGCAGCC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18974.hp2 NA18986.hp1 others(3): Show NA18972.hp2 NA18974.hp2 NA18986.hp1 NA19002.hp2 NA19007.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0006 a0001c0001t0001 a0001c0001t0004 a0001c0002t0006	a0001c0001t0001g0082 a0001c0001t0001g0161 a0001c0001t0001g0199 others(3): Show a0001c0001t0001g0082 a0001c0001t0001g0161 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0004g0198 a0001c0002t0006g0040	6	418	0.0144	406	c.119 others(425): Show c.1195-7690_1195-7689insGGCTGCCACCAGCCTCCCCTCACCCC AGCCTCCACCCACACCGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCATC CACACTGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCATCCACACCGCT GCCGCCAGCCTCCCCCACCCCAGCCTCCATCCACACTGCTGCCACCAGCC TCCCCTCACCCCAGCCTCCACCCACACCGCTGCCGCCAGCCTCCCCCACC CCAGCCTCCATCCACACTGCTGCCACCAGCCTCCCCTCACCCCAGCCTCC ATCCACACCGCTGCCACCAGCCTCCTCACCCAGCCTCCACCCACACCGCT GCTGCCGCCAGCCTCCCCCACCCCAGCCTCCATCCACACCGCTGCCACCA GCCTCCCCTCACCCCAGCCTCCACCCACAC	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/1			chr12	TogoVar
FLACC1_chr2_201283271_201362345	201284695	G G	GGGGAGAG others(399): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGACAGGGA GAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGACAGGGAGAGGGAGAGGGAGACGAGAGGGAG AGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG03041.hp2 HG03195.hp1 HG02886.hp2 HG03041.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0293 a0001c0001t0007g0077 a0001c0001t0007g0145 a0001c0001t0004g0293 a0001c0001t0007g0077 a0001c0001t0007g0145	3	370	0.0081	406	c.39 others(417): Show c.3959_*3960insTCTCCCTCTCCCTCTCGTCTCCCTCTCCCTCTCC CTGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCT CTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCC CCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCT CTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCC CTCTCCCTCTCCCCGTCTCCCTCTCCCTGTCTCCCGTCTCCCTCTCCCTC TCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTC CCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTC TCCCTCTCCCTCTCCCTCTCCC	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding		3575		chr2	TogoVar
FLACC1_chr2_201283271_201362345	201284695	G G	GGGGAGAG others(399): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGACAGGGA GAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGAGAGGGAG AGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02559.hp2 HG02258.hp2 HG02280.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0298 a0001c0001t0004g0302 a0001c0001t0007g0078 a0001c0001t0004g0298 a0001c0001t0004g0302 a0001c0001t0007g0078	3	370	0.0081	406	c.39 others(417): Show c.3959_*3960insTCTCCCTCTCCCTCTCGTCTCCCTCTCCCTCTCC CCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCT CTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCC CCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCT CTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCC CTCTCCCTCTCCCCGTCTCCCTCTCCCTGTCTCCCGTCTCCCTCTCCCTC TCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTC CCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTC TCCCTCTCCCTCTCCCTCTCCC	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding		3575		chr2	TogoVar
GNG4_chr1_235542685_235654784	235587632	G G	GGATGTGT others(399): Show GGATGTGTGTGTGAGAGTATGGGTGTGTGTGGGTGTGTGTCTGGGTGTGG GGTAGGGGGTGAGAGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGAGTGTG AGTGTGGGAGGGTGTGGGGTGGGGTGAGTGTGTGGGAGGGTGTGGGGTGG GGGTGAGCATGAGTGTGGGAGGGTGTGGGGGTGTGAGTGTGGGAGGGTGT GGGGTGGGGTGAGAGCATGGGAGGGTGTGGGGTGGGGGTGAGTGTGACTG TGGGAGAGTGTGGGGTGGGGGTGAATGTGAGTGTGGGAGGGTGTAGGGTG GGGGTGTGAGTGTGGGAGGGTGTGGGGTGGGGTGTGTGAATGTGTGGGGT GGATGTGTGTGTGAGCGTGGGTTTGTGGGTGTGTGTCAGGGTGTGTGGTG TGGGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00642.hp1 others(58): Show HG00140.hp1 HG00438.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01261.hp2 HG01346.hp2 HG01515.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02683.hp1 HG02738.hp1 HG03017.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG04204.hp1 NA18612.hp1 NA18940.hp2 NA18945.hp2 NA18947.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18967.hp1 NA18969.hp2 NA18973.hp2 NA19002.hp1 NA19005.hp1 NA19009.hp2 NA19060.hp2 NA19065.hp2 NA19077.hp2 NA19080.hp1 NA19084.hp2 NA19088.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0052 a0001c0001t0068 a0001c0001t0073 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0001c0002t0020 a0001c0002t0091 a0001c0002t0092 a0001c0002t0094 a0001c0002t0095 a0001c0002t0096 a0001c0002t0097 a0001c0002t0098 a0001c0002t0100 a0001c0002t0101	a0001c0001t0001g0064 a0001c0001t0001g0086 a0001c0001t0001g0180 others(58): Show a0001c0001t0001g0064 a0001c0001t0001g0086 a0001c0001t0001g0180 a0001c0001t0001g0300 a0001c0001t0002g0124 a0001c0001t0003g0077 a0001c0001t0003g0306 a0001c0001t0006g0192 a0001c0001t0052g0053 a0001c0001t0068g0098 a0001c0001t0073g0305 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0040 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0104 a0001c0002t0002g0128 a0001c0002t0002g0130 a0001c0002t0002g0142 a0001c0002t0002g0144 a0001c0002t0002g0150 a0001c0002t0002g0156 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0172 a0001c0002t0002g0174 a0001c0002t0002g0187 a0001c0002t0002g0222 a0001c0002t0002g0226 a0001c0002t0002g0267 a0001c0002t0002g0269 a0001c0002t0002g0275 a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0002g0308 a0001c0002t0003g0092 a0001c0002t0009g0112 a0001c0002t0009g0113 a0001c0002t0009g0136 a0001c0002t0009g0153 a0001c0002t0009g0224 a0001c0002t0009g0225 a0001c0002t0009g0231 a0001c0002t0009g0307 a0001c0002t0020g0209 a0001c0002t0020g0210 a0001c0002t0020g0211 a0001c0002t0091g0325 a0001c0002t0092g0177 a0001c0002t0094g0038 a0001c0002t0095g0055 a0001c0002t0096g0069 a0001c0002t0097g0270 a0001c0002t0098g0045 a0001c0002t0100g0160 a0001c0002t0101g0154	61	330	0.1849	406	c.-10 others(423): Show c.-10-3785_-10-3784insACACCCACACCACACACCCTGACACACA CCCACAAACCCACGCTCACACACACATCCACCCCACACATTCACACACCC CACCCCACACCCTCCCACACTCACACCCCCACCCTACACCCTCCCACACT CACATTCACCCCCACCCCACACTCTCCCACAGTCACACTCACCCCCACCC CACACCCTCCCATGCTCTCACCCCACCCCACACCCTCCCACACTCACACC CCCACACCCTCCCACACTCATGCTCACCCCCACCCCACACCCTCCCACAC ACTCACCCCACCCCACACCCTCCCACACTCACACTCACCCCCACCCCACA CCCTCCCACACTCACTCTCACCCCCTACCCCACACCCAGACACACACCCA CACACACCCATACTCTCACACACACATC	GNG4	ENSG00000168243.11	transcript	ENST00000391854.7	protein_coding	2/3			chr1	TogoVar
GPBP1_chr5_57169059_57269673	57249838	T T	TTCCCGTC others(399): Show TTCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCT CTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TTCCCCTCCCCTCCTTCCACCTCCCTTCCCCCCACCCTTCCCCTCATTCC CCCCCTCCCCGTCCCCTTCCTGCCCGCTTCCCCATCCTCCTCCTTCCCCA TCCTCTTCCTTCCCCCGCCCCCCTTCCCCACCTTCGCCCCCTCCCCCTTG CCCCTCCTTCCCCCTCCCTCCCCCCTTCCTCCCCCCCTCCCCACCTTCCC TGTCCCCCACCTTCCCCCTTCCCCCTCCCCTCCCCCTTCCCTTCCCCTTT CCACCTTCCCCTCCCCTCCTTCCCCCTTCCCCCCCCCCTCCTTCCCCCTT CCCCCTC	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	290	0.0035	406	c.972 others(421): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCTTCCCCCCAC CCTTCCCCTCATTCCCCCCCTCCCCGTCCCCTTCCTGCCCGCTTCCCCAT CCTCCTCCTTCCCCATCCTCTTCCTTCCCCCGCCCCCCTTCCCCACCTTC GCCCCCTCCCCCTTGCCCCTCCTTCCCCCTCCCTCCCCCCTTCCTCCCCC CCTCCCCACCTTCCCTGTCCCCCACCTTCCCCCTTCCCCCTCCCCTCCCC CTTCCCTTCCCCTTTCCACCTTCCCCTCCCCTCCTTCCCCCTTCCCCCCC CCCTCCTTCCCCCTTCCCCCTCTCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GTPBP6_chrX_299759_323796	315685	T T	TACACACG others(399): Show TACACACGCAGACACACACACACACACACACACACAGTAAATACATCCCG ACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAA CACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACA CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA CACATACACACGCAGACACACACACACACACACAAACACACAGTAAATAC ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGAC ACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACA CGCAGAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0076 a0002c0005t0004g0076	1	155	0.0065	406	c.488 others(421): Show c.488-387_488-386insGTCTGCGTGTGTATGTGTTTGTGTCCCTGC CAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTG TGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGT GTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGT TTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTC GGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGT ATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTC TGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGT GTGTGTGTGTGTGTGTCTGCGTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
GTPBP6_chrX_299759_323796	315685	T T	TACACACG others(399): Show TACACACGCAGACACACACACACACACAGTACATTCCGACAGGGACAGAC ACACACACAGACACATACACAGAGACACACACAAACACAGTAAACACATC CCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACACA CACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACAGAC ACACAGACAGACACACAGAGACACACACAAACACAGTAAACACATCCCGG CAGGGACACAAACACATACACACGCAGACACACACACACACACACAGTAC ATTCCGACAGGGACAGACACACACACAGACACATACACAGAGACACACAC AAACACAGTAAACACATCCCAGCAGGGACACAAACACATACACACGCAGA CACACAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0107 a0001c0003t0003g0107	1	155	0.0065	406	c.488 others(421): Show c.488-387_488-386insGTGTGTGTCTGCGTGTGTATGTGTTTGTGT CCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTATGTGTC TGTGTGTGTGTCTGTCCCTGTCGGAATGTACTGTGTGTGTGTGTGTGTGT CTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTG TGTGTGTCTCTGTGTGTCTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA TGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGC GTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTG TGTCTCTGTGTATGTGTCTGTGTGTGTGTCTGTCCCTGTCGGAATGTACT GTGTGTGTGTGTGTGTCTGCGTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
INPP5A_chr10_132532787_132788480	132622290	A A	ATGTTAGA others(399): Show ATGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTT ACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAG ACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGG ATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGC GTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAA TATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAAC TTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGT GTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTAC GCTGACG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02015.hp2 NA18971.hp2 HG01952.hp1 HG02015.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049	3	204	0.0147	406	c.117 others(425): Show c.117+14591_117+14996dupCGTTCGTGGATTGGAAGACTCAGTTA CGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGA CTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGA TTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCG TTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAAT ATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACT TGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTG TTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACG CTGACGTGTTAGAACTTGAGAAATATACCG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITPR2_chr12_26330352_26838194	26805727	G G	GTAAAACT others(399): Show GTAAAACTGGCCGGGCACCGTGGCTCACACCTGTAATCCCAGCACTTTGG AAGGCCAAGGTGAGTGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGC CAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAAA AAAAAAAATAGCCGGGCTTGGTGGCAGGCACCTGTAATCCCAGCTACTCG GGAGGCTGAGGCAAGAGAATCGCTTGAACTTAGGAGGTAGAAGTTGCGGT GAGCTGAGATCACGCCATTGCACTCCAGCCAGGGCAATAAGAACGAAACT CCGTCTCAAAAAAAAAAAAAAAACCCCAGGGTAAAAAGACTTAAAGAAGG TGAGGGAGACATGCAGGAGAACTGCATTCCAGGCAGAGGGAATAGCCAGG GCAACGA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0068	1	142	0.0070	406	c.93- others(423): Show c.93-15501_93-15500insTCGTTGCCCTGGCTATTCCCTCTGCCTG GAATGCAGTTCTCCTGCATGTCTCCCTCACCTTCTTTAAGTCTTTTTACC CTGGGGTTTTTTTTTTTTTTTTGAGACGGAGTTTCGTTCTTATTGCCCTG GCTGGAGTGCAATGGCGTGATCTCAGCTCACCGCAACTTCTACCTCCTAA GTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGT GCCTGCCACCAAGCCCGGCTATTTTTTTTTTTTTTTTTTTTTTTTGTATT TTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCC TGACCTTGTGATCCACTCACCTTGGCCTTCCAAAGTGCTGGGATTACAGG TGTGAGCCACGGTGCCCGGCCAGTTTTA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	1/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26805727	G G	GTAAAACT others(399): Show GTAAAACTGGCCGGGCACCGTGGCTCACACCTGTAATCCCAGCACTTTGG AAGGCCAAGGTGAGTGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGC CAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAAA AAAAAATAGCCGGGCTTGGTGGCAGGCACCTGTAATCCCAGCTACTCGGG AGGCTGAGGCAAGAGAATCGCTTGAACTTAGGAGGTAGAAGTTGCGGTGA GCTGAGATCACGCCATTGCACTCCAGCCAGGGCAATAAGAACGAAACTCC GTCTCAAAAAAAAAAAAAAAAAACCCCAGGGTAAAAAGACTTAAAGAAGG TGAGGGAGACATGCAGGAGAACTGCATTCCAGGCAGAGGGAATAGCCAGG GCAACGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG01070.hp1 others(10): Show HG00323.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG03017.hp2 NA20752.hp2	a0001 a0001	a0001c0005 a0001c0013 a0001c0025 others(7): Show a0001c0005 a0001c0013 a0001c0025 a0001c0026 a0001c0027 a0001c0054 a0001c0055 a0001c0056 a0001c0057 a0001c0065	a0001c0005t0031 a0001c0013t0002 a0001c0013t0022 others(9): Show a0001c0005t0031 a0001c0013t0002 a0001c0013t0022 a0001c0025t0024 a0001c0026t0053 a0001c0027t0055 a0001c0027t0056 a0001c0054t0023 a0001c0055t0008 a0001c0056t0001 a0001c0057t0002 a0001c0065t0024	a0001c0005t0031g0104 a0001c0013t0002g0020 a0001c0013t0022g0120 others(10): Show a0001c0005t0031g0104 a0001c0013t0002g0020 a0001c0013t0022g0120 a0001c0013t0022g0129 a0001c0025t0024g0139 a0001c0026t0053g0142 a0001c0027t0055g0137 a0001c0027t0056g0138 a0001c0054t0023g0136 a0001c0055t0008g0059 a0001c0056t0001g0017 a0001c0057t0002g0054 a0001c0065t0024g0141	13	142	0.0916	406	c.93- others(423): Show c.93-15501_93-15500insTCGTTGCCCTGGCTATTCCCTCTGCCTG GAATGCAGTTCTCCTGCATGTCTCCCTCACCTTCTTTAAGTCTTTTTACC CTGGGGTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGTTCTTATTGCCC TGGCTGGAGTGCAATGGCGTGATCTCAGCTCACCGCAACTTCTACCTCCT AAGTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGATTACAG GTGCCTGCCACCAAGCCCGGCTATTTTTTTTTTTTTTTTTTTTTTGTATT TTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCC TGACCTTGTGATCCACTCACCTTGGCCTTCCAAAGTGCTGGGATTACAGG TGTGAGCCACGGTGCCCGGCCAGTTTTA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	1/56			chr12	TogoVar
KCNG2_chr18_79792938_79905100	79886131	G G	GGGAGATG others(399): Show GGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACA CGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACAT GGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACG GGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGT GGGGACAGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATA GGGACGTGGGGACGGGGACATGGGGACATGGGGACACGGGACAGGGAGAT GGGGATGGGAACATAGGGACGTGGGGACAGGGACATGGGGACACGGGACA GGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGGACATGGGGACA CGGGACA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0164 a0002c0002t0002g0164	1	312	0.0032	406	c.625 others(425): Show c.625-12704_625-12703insAGGGACATGGGGACACGGGACAGGGA GATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACATGGG GACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGG ACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGG GACAGGGACATGGGGACACGGGACAGGAGATGGGGATGGGAACATAGGGA CGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAAC ATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGA TGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAG ATGGGGATGGGAACATAGGGACGTGGGGAC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79886451	A A	AGGGACAT others(399): Show AGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACG TGGGGACAGGGACATGGGGACACGGGACAGGAGATGGGGATGGGAACATA GGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGG GAACATAGGGACGTGGGGACAGGGACATGGGGACACGGGACAGGGAGATG GGGATGGGAACATAGGGACGTGGGGACAGGGACATGGGGACACGGGACAG GGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACAC GGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGGACATG GGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGG GGACATG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0123 a0002c0002t0002g0123	1	312	0.0032	406	c.625 others(425): Show c.625-12583_625-12582insTGGGGACACGGGACAGGGAGATGGGG ATGGGAACATAGGGACGTGGGGACAGGGACATGGGGACACGGGACAGGAG ATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGA CAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGGACATGGGGA CACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGGAC ATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGA CGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGAC GTGGGGACAGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACA TAGGGACGTGGGGACGGGGACATGGGGACA	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNK10_chr14_88175108_88328269	88310155	C C	CATATACC others(399): Show CATATACCATATGATATGGTATATCATATACCATATCATATGGTATATCA TATACCATATGATATGGTATATCATATACCATATGATATGGTATATCATA TACCATATCATATGGTATATCATATACCATATCATATGGTATATCATATA CCATATCATATGGTATATCATATACCATATCATATGGTATATCATATACC ATATCATATGGTATATCATATACCATATCATATGGTATATCATATACCAT ATCATATGGTATATCATATACCATATCATATGGTATATCATATACCATAT CATATGGTATATCATATACCATATCATATGGTATATCATATACCATATCA TATGGTATATCATATACCATATCATATGGTATATCATATACCATATCATA TGGTATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0107 a0001c0002t0023g0107	1	334	0.0030	406	c.52+ others(423): Show c.52+12591_52+12592insTATACCATATGATATGGTATATGATATA CCATATGATATGGTATATGATATACCATATGATATGGTATATGATATACC ATATGATATGGTATATGATATACCATATGATATGGTATATGATATACCAT ATGATATGGTATATGATATACCATATGATATGGTATATGATATACCATAT GATATGGTATATGATATACCATATGATATGGTATATGATATACCATATGA TATGGTATATGATATACCATATGATATGGTATATGATATACCATATGATA TGGTATATGATATACCATATGATATGGTATATGATATACCATATCATATG GTATATGATATACCATATCATATGGTATATGATATACCATATGATATGGT ATATGATATACCATATCATATGGTATAT	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6			chr14	TogoVar
KCNK2_chr1_215077737_215242090	215209569	A A	AAATAGAT others(399): Show AAATAGATATTATATATAAAATATATAAAATAGATATATATAAAATATAT AAAATAGATATTATATATAAAATATATATAATATATATATAAAATAGATA TTATATATAAAATATATATTATATATTATATAAAATAGATATTATATATA AAATATATATTATATATTATATAAAATATATATTATATATTATATAATAT ATAATATATATTATATATATTATATATTATATATTAAATATATATTATAT ATATAAAATATATATAAAATATATATTATATAAAATATATATTATATATA AAATATATACTATATATAAAATATATATTATATATAAAATATATACTATA TATAAAATATATAATATATATAATATATATATTATATATAAAATATATAA TATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0131 a0001c0001t0064g0131	1	260	0.0039	406	c.963 others(425): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATAGATATTATATATAAAATATATATTATATATTATATAAAAT ATATATTATATATTATATAATATATAATATATATTATATATATTATATAT TATATATTAAATATATATTATATATATAAAATATATATAAAATATATATT ATATAAAATATATATTATATATAAAATATATACTATATATAAAATATATA TTATATATAAAATATATACTATATATAAAATATATAATATATATAATATA TATATTATATATAAAATATATAATATATAT	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6			chr1	TogoVar
KCNMB2_chr3_178531436_178849429	178757996	T T	TCCAAGAG others(399): Show TCCAAGAGGATATATATATATACACAAGAGGATATATATATATACACACA AGAGGATATATATATGTACACACAAGAGGATATATATATATATATATCCA AGAGGATATATATATATATATCCAAGAGGATATATATATATATATATCCA AGAGGATATATATATATATATATCCAAGAGGATATATATATATATATATC CAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATATA TATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATA TATATATATATATATATCCAAGAGGATATATATATATATATATATCCAAG AGGATATATATATATATATATATCCAAGAGGATATATATATATATATATC CAAGAGG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0086	1	232	0.0043	406	c.-67 others(425): Show c.-67-49347_-67-49346insCCAAGAGGATATATATATATACACAA GAGGATATATATATATACACACAAGAGGATATATATATGTACACACAAGA GGATATATATATATATATATCCAAGAGGATATATATATATATATCCAAGA GGATATATATATATATATATCCAAGAGGATATATATATATATATATCCAA GAGGATATATATATATATATATCCAAGAGGATATATATATATATATATAT CCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATAT ATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGAT ATATATATATATATATATCCAAGAGGATATATATATATATATATATCCAA GAGGATATATATATATATATATCCAAGAGG	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758039	T T	TACACAAG others(399): Show TACACAAGAGGATATATATATATACACACAAGAGGATATATATATGTACA CACAAGAGGATATATATATATATATATCCAAGAGGATATATATATATATA TCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATA TATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATA TATATATATATATATATATCCAAGAGGATATATATATATATATATATATC CAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATATA TATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATA TATATATATATATATATATCCAAGAGGATATATATATATATATATATATC CAAGAGG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0186 a0001c0002t0001g0186	1	232	0.0043	406	c.-67 others(425): Show c.-67-49303_-67-49302insCACAAGAGGATATATATATATACACA CAAGAGGATATATATATGTACACACAAGAGGATATATATATATATATATC CAAGAGGATATATATATATATATCCAAGAGGATATATATATATATATATA TCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATA TATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGA TATATATATATATATATATATCCAAGAGGATATATATATATATATATATA TCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATA TATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGA TATATATATATATATATATATCCAAGAGGA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KDM4B_chr19_4964113_5158598	5076275	C C	CGTCCTTT others(399): Show CGTCCTTTCCCCAGGGTTGTGCTCTCTCGTTGACCGAGTGACGAGAGCGG CCACACTGCATCCTTTCCCCAGGGTCGTGCTCTCTCGTTGAATGAGTGAT GAGAGCGGCCACACTGCGTCCTTTCCCCAGGGTCGTGCTCTCTCGTTGAC TGAGTGACGAGAGCGGCCACACTGCATCCTTTCCCCAGGGTCGTGCTCTC TCGTTGACTGAGTGATGAGAGCGGCCACCCTGTGTCCTTTCCCCAGGGTC GTGCTCTCTCGTTGAATGAGTGATGAGAGCGGCCACACTGCGTCCTTTCC CCAGGGTCGTGCTCTCTCGTTGACTGAGTGACGAGAGCGGCCACACTGCA TCCTTTCCCCAGGGTCGTGCTCTCTCGTTGACTGAGTGATGAGAGCGGCC ACCCTGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00558.hp1 others(35): Show HG00323.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG01109.hp1 HG01258.hp1 HG02004.hp1 HG02027.hp2 HG02273.hp2 HG02451.hp2 HG02523.hp1 HG02683.hp1 HG02735.hp2 HG03669.hp1 HG03927.hp2 HG04184.hp1 HG04228.hp1 NA18612.hp1 NA18942.hp2 NA18944.hp2 NA18952.hp2 NA18955.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18970.hp2 NA18971.hp1 NA18975.hp2 NA18979.hp1 NA18983.hp2 NA18995.hp1 NA19000.hp2 NA19010.hp1 NA19057.hp2 NA19065.hp2 NA20300.hp2 NA20905.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0028 a0001c0037 others(3): Show a0001c0001 a0001c0028 a0001c0037 a0002c0002 a0002c0005 a0005c0033	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0001t0021 a0001c0001t0031 a0001c0028t0003 a0001c0037t0003 a0002c0002t0004 a0002c0005t0003 a0002c0005t0016 a0005c0033t0001	a0001c0001t0001g0180 a0001c0001t0001g0195 a0001c0001t0001g0200 others(35): Show a0001c0001t0001g0180 a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0228 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0249 a0001c0001t0003g0079 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0221 a0001c0001t0003g0233 a0001c0001t0003g0253 a0001c0001t0010g0198 a0001c0001t0011g0186 a0001c0001t0011g0251 a0001c0001t0021g0204 a0001c0001t0031g0213 a0001c0028t0003g0207 a0001c0037t0003g0071 a0002c0002t0004g0197 a0002c0005t0003g0222 a0002c0005t0016g0199 a0002c0005t0016g0230 a0005c0033t0001g0183	38	270	0.1407	406	c.677 others(423): Show c.677-1092_677-1091insGTCCTTTCCCCAGGGTTGTGCTCTCTCG TTGACCGAGTGACGAGAGCGGCCACACTGCATCCTTTCCCCAGGGTCGTG CTCTCTCGTTGAATGAGTGATGAGAGCGGCCACACTGCGTCCTTTCCCCA GGGTCGTGCTCTCTCGTTGACTGAGTGACGAGAGCGGCCACACTGCATCC TTTCCCCAGGGTCGTGCTCTCTCGTTGACTGAGTGATGAGAGCGGCCACC CTGTGTCCTTTCCCCAGGGTCGTGCTCTCTCGTTGAATGAGTGATGAGAG CGGCCACACTGCGTCCTTTCCCCAGGGTCGTGCTCTCTCGTTGACTGAGT GACGAGAGCGGCCACACTGCATCCTTTCCCCAGGGTCGTGCTCTCTCGTT GACTGAGTGATGAGAGCGGCCACCCTGT	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	7/22			chr19	TogoVar
KIF3B_chr20_32272651_32340011	32322702	A A	ATTTATAT others(399): Show ATTTATATATATTTATTTATATATATATTTATATATTTATATATATATTT ATATATATTTATATATATTTATATGTATATTTTTATATATTTATATATAT TTATATATACATATTCATATATATTTTTATATATTTATATACATATTCAT ATATATTTTTATATATTTATATATACATATTTATATATATACATATTTAT ATATATACACATATTTATATATACATATTTATATATATATACATATTTAT ATATACATATTTATACATATTTATATATACATATTTATATACATTTATAT ACATATTTATATATACATTTATATATACATTTATATATACATATTTATAT ATATTTATATATATTTATAGATATATATTTATAGATATATATTTATATAT ATTTATT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0081 a0001c0003t0010g0082 a0001c0003t0010g0081 a0001c0003t0010g0082	2	242	0.0083	406	c.174 others(425): Show c.1749-4068_1749-4067insTTATATATATTTATTTATATATATAT TTATATATTTATATATATATTTATATATATTTATATATATTTATATGTAT ATTTTTATATATTTATATATATTTATATATACATATTCATATATATTTTT ATATATTTATATACATATTCATATATATTTTTATATATTTATATATACAT ATTTATATATATACATATTTATATATATACACATATTTATATATACATAT TTATATATATATACATATTTATATATACATATTTATACATATTTATATAT ACATATTTATATACATTTATATACATATTTATATATACATTTATATATAC ATTTATATATACATATTTATATATATTTATATATATTTATAGATATATAT TTATAGATATATATTTATATATATTTATTT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KLHDC4_chr16_87702812_87770986	87738936	C C	CCCACACA others(399): Show CCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCACACA CCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAG CATCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACC TCATCCACCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCAT CCATCCACACACCAGCACCTCATCCATCCACACACCAGCATCCCATCCAT CCACACACCAGCACCTCATCCATCCACACACCAGTATCTCATCCACACAC CAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGC ACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCT CATCCAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	380	0.0026	406	c.507 others(423): Show c.507-8293_507-8292insATGGATGAGGTGCTGGTGTGTGGATGGA TGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAG GTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGATACTGGT GTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGGGATGCTGGTGTGT GGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGT GGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGAT GAGGTGCTGGTGTGTGGATGGATGAGATGCTGGTGTGTGGATGGATGAGG TGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGAGGTGCTGGTGTGTGG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87739111	C C	CCTCATCC others(399): Show CCTCATCCATCCACACACCAGCATCCCATCCATCCACACACCAGCACCTC ATCCATCCACACACCAGTATCTCATCCACACACCAGCACCTCATCCATCC ACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACAC ACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCA GCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCAC CTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCA TCCATCCACACACCAGCACCTCATCCATCCACACACCAGCATCTCATCCA CACACCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACA CCAGCAT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0149 a0002c0002t0002g0149	1	380	0.0026	406	c.507 others(423): Show c.507-8468_507-8467insATGCTGGTGTGTGGATGGATGAGATGCT GGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGATGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTG GATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATG AGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGT GCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT GTGGATGAGATACTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGG ATGGGATGCTGGTGTGTGGATGGATGAG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(399): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGGTGATGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGT GATGACGGTGATGATGGGGGTGGAGGGGTGATGACGGTGATGATGGGGGT GGGGGGGTGATGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTG ATGACGGTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGT GGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGG GGGTGATGACGGTGGGGGTGGGGGTGATGATGGTGATGGTGGGGGTGATG ATGGTGGGGGTGGGGGTGATGATGGTGAGGGTGATGATGGTGGGGGTAAT GACGGTG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0090 a0002c0003t0001g0090	1	186	0.0054	406	c.956 others(423): Show c.956+1962_956+1963insCACCGTCATTACCCCCACCATCATCACC CTCACCATCATCACCCCCACCCCCACCATCATCACCCCCACCATCACCAT CATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCC CCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCC ACCGTCATCACCCCCACCATCACCGTCATCACCCCCACCCCCACCGTCAT CACCCCCACATCACCGTCATCACCCCCCCACCCCCATCATCACCGTCATC ACCCCTCCACCCCCATCATCACCGTCATCACCCCCACCCCCACCATCACC ACCCCCACCCCCACCATCACCACCCCCACCATCACCATCATCACCCCCAC CCCCACCATCACCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LHPP_chr10_124456823_124619141	124507131	T T	TGGGGGGT others(399): Show TGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTG GGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGG GGGGTAGACAGGATTTCAGGTGGGGGGTAGGGAGGATTTCAGGTGGGGGG GTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGT AGACAGGATTTCAGGTGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAG ACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGG AGGATTTCAGGTGGGGGGTTAGAGAGGATTTCAGGTGGGAGGGTAGGCAG GATTTCAGGTCAGGGGGATAGACAGGATTTCAGGTGGGGGGTAGGGAGGA TTTCAGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	260	0.0039	406	c.624 others(423): Show c.624+9003_624+9004insGGGGGGTAGGGAGGATTTCAGGTGTGGA GGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGTA GGGAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTCGGGGGGTAGACAGGATTTCAGGTGGGGGGTAGGGAG GATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGG ATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGTTAGAGAGGAT TTCAGGTGGGAGGGTAGGCAGGATTTCAGGTCAGGGGGATAGACAGGATT TCAGGTGGGGGGTAGGGAGGATTTCAGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LMF1_chr16_848634_975984	923003	G G	GTTGGTGT others(399): Show GTTGGTGTCATGTGGTGTTGGTGTCGTGTTGTTGCGAAGGCCCTGTGTGA AGGTCGCCTGGGTTTTCAGGTGTGATGTGGTGTTGGTGTCGTGTTGTTGC GAAGGCCCTGTCTGAAAGTCGCCTGGGTTTTCGGGTGTGATGTGGTGTTG GCGTCGTGTTGTTGCGAAGGCCCTGTGTGAAAGTCGCCTGGGTTTTCAGG TGTGATGTGGTGTTGGCGTCGTGTTGTTGCGAAGTCCCTGTGTGAAAGTC GCCGGGGTTTTCGGGTGTGATGTGGTGTTGGTGTCGTGTTGTTGCGAAGG CCCTGTGTGAAAGTCGCCGGGGTTTTCGGGTGTGATGTGGTGTTGGTGTC GTGTTGTTGCGAAGGCCCTGTGTGAAAGTCGCCTGGGTTTTCGGGTGTGA TGTGGTA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02300.hp1 HG01978.hp1 HG02300.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0115 a0001c0010t0001g0273 a0001c0010t0001g0115 a0001c0010t0001g0273	2	294	0.0068	406	c.514 others(425): Show c.514+11240_514+11241insTACCACATCACACCCGAAAACCCAGG CGACTTTCACACAGGGCCTTCGCAACAACACGACACCAACACCACATCAC ACCCGAAAACCCCGGCGACTTTCACACAGGGCCTTCGCAACAACACGACA CCAACACCACATCACACCCGAAAACCCCGGCGACTTTCACACAGGGACTT CGCAACAACACGACGCCAACACCACATCACACCTGAAAACCCAGGCGACT TTCACACAGGGCCTTCGCAACAACACGACGCCAACACCACATCACACCCG AAAACCCAGGCGACTTTCAGACAGGGCCTTCGCAACAACACGACACCAAC ACCACATCACACCTGAAAACCCAGGCGACCTTCACACAGGGCCTTCGCAA CAACACGACACCAACACCACATGACACCAA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	3/10			chr16	TogoVar
LRRC27_chr10_132327193_132386508	132364576	C C	CTTACACC others(399): Show CTTACACCCACCCTTACATCTACCTCCACGCCCACACTCACACCCACCCA CACTCACACCCACACTTACATCTACCTCCACGCCCACACTCACACCCACC CACACTTACACCCACCCTTACATCTACCTCCACGCCCACACTTACACCCA CACTTACATCTACCTCCACGCCCACACTCACACCCACCCACACTTACACC CACCCTTACATCTACCTCCACGCCCACACTCACACCCACCCACACTTACA CCCACACTTACATCTACCTCCACGCCCACACTCACACCCACCCACACTTA CACCCACCCTTACATCTACCTCCACGCCCACACTCACACCCACCCACACT CACACCCACGCTTACATCTACCTCCACACCCACACTTAACACCCACGCTT ACATCTA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0082 a0001c0003t0006g0082	1	290	0.0035	406	c.129 others(423): Show c.1290-848_1290-847insTTACACCCACCCTTACATCTACCTCCAC GCCCACACTCACACCCACCCACACTCACACCCACACTTACATCTACCTCC ACGCCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCT CCACGCCCACACTTACACCCACACTTACATCTACCTCCACGCCCACACTC ACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACGCCCACAC TCACACCCACCCACACTTACACCCACACTTACATCTACCTCCACGCCCAC ACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACGCCC ACACTCACACCCACCCACACTCACACCCACGCTTACATCTACCTCCACAC CCACACTTAACACCCACGCTTACATCTA	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10			chr10	TogoVar
LRRK2_chr12_40219997_40374285	40247664	A A	ATATTTAT others(399): Show ATATTTATACACAGATGTATATAAATATACATATTTATACACAGTTGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATCTATATAAATATACATATTTATACACAGATCTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0276 a0003c0004t0004g0276	1	382	0.0026	406	c.839 others(423): Show c.839-2162_839-2161insTATTTATACACAGATGTATATAAATATA CATATTTATACACAGTTGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATCTATATAAATATACATATTTATA CACAGATCTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATG	LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	7/50			chr12	TogoVar
LRRK2_chr12_40219997_40374285	40247728	A A	ATATTTAT others(399): Show ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0201 a0001c0005t0005g0201	1	382	0.0026	406	c.839 others(423): Show c.839-2098_839-2097insTATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATG	LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	7/50			chr12	TogoVar
LUC7L_chr16_183990_234449	186442	G G	GGAGGAAC others(399): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAA CAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGA GGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACA CGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	350	0.0029	406	c.27 others(417): Show c.2755_*2756insTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGT CGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCG TGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTC CCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGT TCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTC GCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCC CCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTC CTCCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2547		chr16	TogoVar
METTL25B_chr1_156723469_156741960	156735544	A A	AAAAAAAA others(399): Show AAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCT ACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGC TATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTT TAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAG ATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAG TGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACG CCATCTC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03471.hp1 NA19080.hp1 HG02559.hp1 HG03471.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0002g0145 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0002g0145	3	390	0.0077	406	c.112 others(423): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(399): Show GCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCTCCCCTCCCCCTTCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCTCCCT CCCCCCTCCCCTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCC CCATTCCCCTTCCCTCCCCTCCACCCTCCCCTCCCCTCCCTTCCCCTCCC TTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCC CCCTCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTC CTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTC CCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCC TCCCCAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00738.hp2 HG01496.hp2 others(5): Show HG00408.hp2 HG00738.hp2 HG01496.hp2 HG02165.hp2 HG04199.hp2 NA18965.hp1 NA19003.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0030 a0002c0029 a0001c0001 a0001c0030 a0002c0029	a0001c0001t0006 a0001c0030t0001 a0002c0029t0001 a0001c0001t0006 a0001c0030t0001 a0002c0029t0001	a0001c0001t0006g0030 a0001c0001t0006g0032 a0001c0001t0006g0051 others(5): Show a0001c0001t0006g0030 a0001c0001t0006g0032 a0001c0001t0006g0051 a0001c0001t0006g0175 a0001c0001t0006g0177 a0001c0001t0006g0232 a0001c0030t0001g0273 a0002c0029t0001g0147	8	278	0.0288	406	c.115 others(423): Show c.1157+156_1157+157insCTCCCCTCCCTTCCCCTCCCCTCCCCCT TCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCTC CCTCCCCCCTCCCCTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCC TCCCCATTCCCCTTCCCTCCCCTCCACCCTCCCCTCCCCTCCCTTCCCCT CCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCT CCCCCCTCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCT CTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCC CTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTC CCCTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(399): Show GCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCTCCCCTCCCCCTTCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCCTCCCCTCCTCCCT CCCCCCTCCCCTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCC CCATTCCCCTTCCCTCCCCTCCACCCTCCCCTCCCCTCCCTTCCCCTCCC TTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCC CCCTCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTC CTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTC CCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCC TCCCCAC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0186 a0002c0002t0006g0186	1	278	0.0036	406	c.115 others(423): Show c.1157+156_1157+157insCTCCCCTCCCTTCCCCTCCCCTCCCCCT TCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCCTCCCCTCCTC CCTCCCCCCTCCCCTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCC TCCCCATTCCCCTTCCCTCCCCTCCACCCTCCCCTCCCCTCCCTTCCCCT CCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCT CCCCCCTCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCT CTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCC CTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTC CCCTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MRPL24_chr1_156732303_156746088	156735544	A A	AAAAAAAA others(399): Show AAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCT ACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGC TATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTT TAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAG ATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAG TGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACG CCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG03471.hp2 HG02559.hp1 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	2	364	0.0055	406	c.18 others(417): Show c.1853_*1854insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1758		chr1	TogoVar

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Search Results (Total: 10000 hits)