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
TOLLIP_chr11_1269371_1314632	1294739	C C	CCCTGCAT others(554): Show CCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTCCC TGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTCCCTGC ATTTCTACGAAAGCCCGCATGGCTCAGTGTGTCTCCTTTCCCTGCATTTC TACGAAAGCCGCGTGGCTCACAGTGTGTCTCCTTTCCCTGCATTTCTACG AAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTCCCTGCATTTCTACGAAA GCCCGCGTGGCTCACGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCC CGCGTGGCTCACGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGC GTGGCTCACGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTG GCTCACGGTGTGTCTCCTTTTCCTGCATTTCTACGAAAGCCCGCGTGGCT CACGGTGTGTCTCCTTTTCCTGCATTTCTACGAAAGCCCGCGTGGCTCAC GGTGTGTCTCCTTTTCCTGCATTTCTACGAAAGCCCGGGTGGCTCACGGT GTGTCTCCTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01975.hp2 HG02148.hp2 others(18): Show HG00323.hp2 HG01975.hp2 HG02148.hp2 HG02273.hp2 HG02300.hp2 NA18939.hp2 NA18940.hp1 NA18949.hp2 NA18950.hp2 NA18961.hp1 NA18975.hp1 NA18977.hp2 NA18983.hp1 NA18984.hp2 NA18995.hp2 NA19011.hp1 NA19054.hp2 NA19060.hp1 NA19067.hp2 NA19085.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0004 a0001c0001t0001g0086 a0001c0001t0001g0227 others(16): Show a0001c0001t0001g0004 a0001c0001t0001g0086 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0010g0231 a0001c0001t0010g0243	21	348	0.0603	561	c.183 others(576): Show c.183+905_183+906insAAAAGGAGACACACCGTGAGCCACCCGGGC TTTCGTAGAAATGCAGGAAAAGGAGACACACCGTGAGCCACGCGGGCTTT CGTAGAAATGCAGGAAAAGGAGACACACCGTGAGCCACGCGGGCTTTCGT AGAAATGCAGGAAAAGGAGACACACCGTGAGCCACGCGGGCTTTCGTAGA AATGCAGGGAAAGGAGACACACCGTGAGCCACGCGGGCTTTCGTAGAAAT GCAGGGAAAGGAGACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCA GGGAAAGGAGACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGG AAAGGAGACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAA GGAGACACACTGTGAGCCACGCGGCTTTCGTAGAAATGCAGGGAAAGGAG ACACACTGAGCCATGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACA CCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACCG TGAGCCACGCGGGCTTTCGTAGAAATGCAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5			chr11	TogoVar
TRIO_chr5_14138342_14515204	14347271	C C	CTGGACCA others(554): Show CTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGAT GCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGA TGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATG ATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGAT GATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGA TGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAG ATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGA GATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAA CAGAGATGATGA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0012 a0001c0023t0001g0012	1	198	0.0051	561	c.204 others(582): Show c.2046+10613_2046+10614insCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGA ACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAG AACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCA GAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGC AGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTG CAGAACAGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCT GCAGAACAGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCC TGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGG	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(554): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGGTGATATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATATGATATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATCATATGAT GATATGATATAC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0057 a0003c0005t0057	a0003c0005t0057g0024 a0003c0005t0057g0024	1	174	0.0058	561	c.41- others(578): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGGTGATATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATATGATATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATCATATGAT GATATGATATACTATATCATCATATGATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53204252	T T	TATGATGA others(554): Show TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATAACATGATGATATGATACTATATCATCATATAAC ATGATGATATGATACTATATCATCATATAACATGATGATATGATACTATA TCATCATATAAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0078 a0002c0003t0010g0078	1	174	0.0058	561	c.41- others(578): Show c.41-49219_41-49218insGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATGATACTATATCA TCATATGATGATATGATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATAACATGATGATATGATACTATATCATCATATAACATGATGA TATGATACTATATCATCATATAACATGATGATATGATACTATATCATCAT ATAACATGATGATATGATACTATATCATCATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TUBB2B_chr6_3219277_3232653	3222129	C C	CACCACCA others(554): Show CACCACCACCACACTACCACCACCACCATCACCATCATCATCACCACCAC CACGACCACCACAACACTACCACATCACCACCACCATCACCACCACCACC ATCACCACCACTACCACCACAATCACCACTACCACCATCGCCACCACTAC TACCATCACCACCACCACCACCATCACCACTACCACCACCACCACCACCA CACTACCACATCACCACCACCACCACCATTACCACCACCACCACCACCAC TATCACCATCATCACCATCACCACCATCACCACCACCACTACCACTACCA CCAACACAATCACCACCACGATCACCATCATCACCACCACCACCACCACC ACTACCACTACCATCATAATTACCACCACCATCACCACCACCACCACCAC TATCACCATCATCACCACCACCACCACCACCACTAGCACAACCACAACAC TACCACATCACCACCACCACTACCACTACTACCATCACCATCACCACCAC CATCACCACCACCACCACAATACTACCACATCACCACCACCACCATCATC ATCACCACCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	360	0.0028	561	c.26 others(572): Show c.2621_*2622insAGTGGTGGTGATGATGATGGTGGTGGTGGTGATG TGGTAGTATTGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGATGGTAG TAGTGGTAGTGGTGGTGGTGATGTGGTAGTGTTGTGGTTGTGCTAGTGGT GGTGGTGGTGGTGGTGATGATGGTGATAGTGGTGGTGGTGGTGGTGATGG TGGTGGTAATTATGATGGTAGTGGTAGTGGTGGTGGTGGTGGTGGTGATG ATGGTGATCGTGGTGGTGATTGTGTTGGTGGTAGTGGTAGTGGTGGTGGT GATGGTGGTGATGGTGATGATGGTGATAGTGGTGGTGGTGGTGGTGGTAA TGGTGGTGGTGGTGGTGATGTGGTAGTGTGGTGGTGGTGGTGGTGGTAGT GGTGATGGTGGTGGTGGTGGTGATGGTAGTAGTGGTGGCGATGGTGGTAG TGGTGATTGTGGTGGTAGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTG GTGATGTGGTAGTGTTGTGGTGGTCGTGGTGGTGGTGATGATGATGGTGA TGGTGGTGGTGGTAGTGTGGTGGTGGT	TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding		2147		chr6	TogoVar
TWIST2_chr2_238843085_238915534	238870178	A A	ACACACAC others(554): Show ACACACACCACACACCCCCCCACACCACACCCCATACACACCACACACCA CACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACA CACCCCACACACACCACACCCCACACACACCACACACCCCCCACACACCA CACCCCATACACACCACACACCACACCCCACACACACCACACCCCACACA CACCACACCCCACACACACCACACACCCCCCACACACCACACCCCACACA CACCACACACCCCCCACACACCACACACCATACACACCACACCCCACACA CACCACACCCCCCACACACCACACCCCACACACCACACCCCACACACACC ACACACCACACACACCACACCCCATACACACCACACCCCATACACACCAC ACCCCACACACACCACACCCCACACACCACACCCCCCACACACACCACAC CCCCCACACACCACACCCCACACACCACACCCCACACACCACACACCCCA CACACACCACACCCCACACACACCACACCCCACACACACCACACCCCCCA CACACCACACCC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	338	0.0030	561	c.35 others(580): Show c.35+21452_*35+21453insCACACACCCCCCCACACCACACCCCA TACACACCACACACCACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACACCCCACACACACCACACCCCACACACACCACA CACCCCCCACACACCACACCCCATACACACCACACACCACACCCCACACA CACCACACCCCACACACACCACACCCCACACACACCACACACCCCCCACA CACCACACCCCACACACACCACACACCCCCCACACACCACACACCATACA CACCACACCCCACACACACCACACCCCCCACACACCACACCCCACACACC ACACCCCACACACACCACACACCACACACACCACACCCCATACACACCAC ACCCCATACACACCACACCCCACACACACCACACCCCACACACCACACCC CCCACACACACCACACCCCCCACACACCACACCCCACACACCACACCCCA CACACCACACACCCCACACACACCACACCCCACACACACCACACCCCACA CACACCACACCCCCCACACACCACACCCCACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
VSIG4_chrX_66016738_66045080	66037121	A A	AATATATA others(554): Show AATATATATAATATATATAATATATATAATATAATATAATGCAATATATA ATAATTATATAATATAATATATAATATATAATATATATTATATATAATAA TATAATATATAATATACATTATATAATAATATAATGTATATTATATAATA ATAATGTAATATATAACATATATTATATAATAATAATATAAGATATATTA TATAATTAATATAATATATAATATATATTATATAATAATAATATAAGATA TATTATATAATTAATATAATATATAATATATATTATATAATTAATATAAT ATATAATATATATTATATAATAATAATATAATATATATAATAATTATATA ATATAGTATATAATATATATTATATAATAATAATATAATATATATAATAA TTATATAATATTAGAATATATATTATACAATAATAATATAATATATATTA TACAATAATAATATAATATATATATAATTATATAATATAATATATATAAT AATAATATAATATAATATATAATATATATTATATAGTAATAATATAATAT AATATATAATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG02683.hp1 others(3): Show HG00438.hp1 HG00438.hp2 HG02683.hp1 NA18954.hp2 NA18962.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0127 a0001c0001t0001g0128 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0166	6	218	0.0275	561	c.55+ others(576): Show c.55+2822_55+2823insATATTATATATTATATTATATTATTACTAT ATAATATATATTATATATTATATTATATTATTATTATATATATTATATTA TATAATTATATATATATTATATTATTATTGTATAATATATATTATATTAT TATTGTATAATATATATTCTAATATTATATAATTATTATATATATTATAT TATTATTATATAATATATATTATATACTATATTATATAATTATTATATAT ATTATATTATTATTATATAATATATATTATATATTATATTAATTATATAA TATATATTATATATTATATTAATTATATAATATATCTTATATTATTATTA TATAATATATATTATATATTATATTAATTATATAATATATCTTATATTAT TATTATATAATATATGTTATATATTACATTATTATTATATAATATACATT ATATTATTATATAATGTATATTATATATTATATTATTATATATAATATAT ATTATATATTATATATTATATTATATAATTATTATATATTGCATTATATT ATATTATATATATTATATATATTATATATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
ZBTB34_chr9_126855639_126890878	126876173	T T	TCCCCCTT others(554): Show TCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCCTTCCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCCTTC CCCCTTCCCCCTTCCCCCCCTTTCCCCCTTCCCCCTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCC CCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCTTCCCCCTTTCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCC CCCCTTCCCCCTTCCCCCCTTCCCCTTCCCCCCTTTCCCCCCTTCCCCCT TCCCCCCTTCCCCCCTTCCCCCCTTCCCCTTCCCCCCTTCCCCCCTTCCC CCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTT CCCCCGTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCTCCTTCCCCC CTTCCCCCCTTC	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	246	0.0041	561	c.-10 others(578): Show c.-10-3212_-10-3211insTTCCCCCCTTCCCCCTTCCCCCTTCCCC CCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTC CCCCTTCCCCCCCTTCCCCCTTCCCCCTTCCCCCCCTTTCCCCCTTCCCC CTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTTCCCCCTTCCCCCTTCCCCCTTTCCCCTTCCCCCCTTCCCCCCTT CCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCTTCCCCCCT TTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCTTCCC CCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCT TCCCCCTTCCCCCCTTCCCCCGTTCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTCCTCCTTCCCCCCTTCCCCCCTTCCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZFPM1_chr16_88448280_88542031	88501251	A A	ACTGGTGA others(554): Show ACTGGTGATGATGGAGATAGCGGTCATGGATGCGGGGGCCATCCCGCCAG TGCTGGTGATGATGGAGATAGCAGACATGGGTGTGTGGGCCCTCCCGCAG GTGCTGGTGATGATGGAGATAGCGGGTGTGGGTGCATGGGCTCTCCCGCA GGTACTGGTGATGATGGAGATAGCGGTCATGGATGCGGGGGCCATCCCGC CAGTGCTGGTGATGATGGAGATAGCAGACATGGGTGTGTGGGCCCTCCCG CAGGTGCTGGTGATGATGGAGATAGCGGTCATGGATGCGGGGGCCATCCC GCCAGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGGGGGCTCTCC CGCAGGTGCTGGTGATGATGGAGATAGCGGGTGTGGGTGCGTGGGCTCTC CCGCAGGTGCTGGTGGTGATGGAGATAGCAGACATGGGTGTGTGGGCCCT CCCGCAGGTACTGGTGATGATGGAGATAGCGGTCATGGATGCGGGGGCCA TCCCGCCAGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGTGGGCC ATCCCGCAGGTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03139.hp1 HG02258.hp2 HG03139.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0204 a0001c0013t0003g0237 a0001c0013t0003g0204 a0001c0013t0003g0237	2	318	0.0063	561	c.268 others(580): Show c.268+12117_268+12118insCGGTCATGGATGCGGGGGCCATCCCG CCAGTGCTGGTGATGATGGAGATAGCAGACATGGGTGTGTGGGCCCTCCC GCAGGTGCTGGTGATGATGGAGATAGCGGGTGTGGGTGCATGGGCTCTCC CGCAGGTACTGGTGATGATGGAGATAGCGGTCATGGATGCGGGGGCCATC CCGCCAGTGCTGGTGATGATGGAGATAGCAGACATGGGTGTGTGGGCCCT CCCGCAGGTGCTGGTGATGATGGAGATAGCGGTCATGGATGCGGGGGCCA TCCCGCCAGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGGGGGCT CTCCCGCAGGTGCTGGTGATGATGGAGATAGCGGGTGTGGGTGCGTGGGC TCTCCCGCAGGTGCTGGTGGTGATGGAGATAGCAGACATGGGTGTGTGGG CCCTCCCGCAGGTACTGGTGATGATGGAGATAGCGGTCATGGATGCGGGG GCCATCCCGCCAGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGTG GGCCATCCCGCAGGTGCTGGTGATGATGGAGATAG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZFPM1_chr16_88448280_88542031	88501285	G G	GGGGCTCT others(554): Show GGGGCTCTCCCGCAGGTGCTGGTGATGATGGAGATAGCGGGTGTGGGTGC ATGGGCTCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTG CGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCGGGTGTGGGT GCATGGGCTCTCCCGCAGGTACTGGTGATGATGGAGATAGTGGGCCTGGG TGCGTGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGG GTGCATGGGCTCTCCCGCAGGTACTGGTGATGATGGAGATAGTGGGCCTG GGTGCGTGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACAT GGGTGCGTGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACA TGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGAC ATGGGTGCGTGGGCCCTCCCGCAGGTGCTGGTGATGATAGAGATAGCAGA CATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAG ACATGGGTGCGT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0020 a0020	a0020c0075 a0020c0075	a0020c0075t0060 a0020c0075t0060	a0020c0075t0060g0165 a0020c0075t0060g0165	1	318	0.0031	561	c.268 others(580): Show c.268+12136_268+12137insTCTCCCGCAGGTGCTGGTGATGATGG AGATAGCGGGTGTGGGTGCATGGGCTCTCCCGCAGGTGCTGGTGATGATG GAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGATGAT GGAGATAGCGGGTGTGGGTGCATGGGCTCTCCCGCAGGTACTGGTGATGA TGGAGATAGTGGGCCTGGGTGCGTGGGCCCTCCCGCAGGTGCTGGTGATG ATGGAGATAGCAGACATGGGTGCATGGGCTCTCCCGCAGGTACTGGTGAT GATGGAGATAGTGGGCCTGGGTGCGTGGGCCCTCCCGCAGGTGCTGGTGA TGATGGAGATAGCAGACATGGGTGCGTGGGCCCTCCCGCAGGTGCTGGTG ATGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTGGT GATGATGGAGATAGCAGACATGGGTGCGTGGGCCCTCCCGCAGGTGCTGG TGATGATAGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTG GTGATGATGGAGATAGCAGACATGGGTGCGTGGGC	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF182_chrX_47969851_48008989	47971555	A A	ATGTATAT others(554): Show ATGTATATACACGTGTATACGTATACATATGTATATACACGTGTATACGT ATACATATGTATATACACGTGTATACGTATACATATGTATATACACGTGT ATACGTATACATATGTATATACACGTGTATACGTATACATATGTATATAC ACGTGTATACGTATACATATGTATATACACGTGTATACGTATACATATGT ATATACACGTGTATACGTATACATATGTATATACACGTGTATACGTATAC ATATGTATATACACGTGTATACGTATACATATGTATATACACGTGTATAC GTATACATATGTATATACACGTGTATACGTATACATATGTATATACACGT GTATACGTATACATATGTATATACACGTGTATACGTATACATATGTATAT ACACGTGTATACGTATACATATGTATATACACGTGTATATGTATACATAT GTATATACACGTGTGTATTATACATATGTATATACACGTGTGTATATGTA TACATATGTATATGTATACATATGCATATACGTGTGTATATGTATACATA TGCATATACGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01070.hp1 HG00741.hp2 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	2	270	0.0074	561	c.46 others(572): Show c.4611_*4612insCACGTATATGCATATGTATACATATACACACGTA TATGCATATGTATACATATACATATGTATACATATACACACGTGTATATA CATATGTATAATACACACGTGTATATACATATGTATACATATACACGTGT ATATACATATGTATACGTATACACGTGTATATACATATGTATACGTATAC ACGTGTATATACATATGTATACGTATACACGTGTATATACATATGTATAC GTATACACGTGTATATACATATGTATACGTATACACGTGTATATACATAT GTATACGTATACACGTGTATATACATATGTATACGTATACACGTGTATAT ACATATGTATACGTATACACGTGTATATACATATGTATACGTATACACGT GTATATACATATGTATACGTATACACGTGTATATACATATGTATACGTAT ACACGTGTATATACATATGTATACGTATACACGTGTATATACATATGTAT ACGTATACACGTGTATATACATATGTATACGTATACACGTGTATATACAT ATGTATACGTATACACGTGTATATACA	ZNF182	ENSG00000147118.12	transcript	ENST00000376943.8	protein_coding		3295		chrX	TogoVar
ABCB11_chr2_168915781_169036324	168975476	T T	TATAAATA others(555): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATT TATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATCAA TATTTTTATATTTATAGATAAATATATCAATATATAAATATTTTTATATT TATAGATAAATATATCAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTT TATATTTATAGATAAATATATAAATATTTTTATATTTATAAATATATAAA TATTTTTATATTTATAAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0173 a0001c0002t0002g0173	1	306	0.0033	562	c.130 others(581): Show c.1308+1100_1308+1101insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTAT AAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATAT TTATATATTGATATATTTATCTATAAATATAAAAATATTGATATATTTAT CTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTT ATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATAT TTATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975544	T T	TATAAATA others(555): Show TATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAA TATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATA TTTATAGATAAATATATCAATATTTTTATATTTATAGATAAATATATCAA TATATAAATATTTTTATATTTATAGATAAATATATCAATATATAAATATT TTTATATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATA GATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTT TATATTTATAGATAAATATATAAATATTTTTATATTTATAAATATATAAA TATTTTTATATTTATAAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAG	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0069 a0001c0002t0002g0069	1	306	0.0033	562	c.130 others(581): Show c.1308+1032_1308+1033insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTAT AAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTGATATATTTATCTATAAATATAAAAATATTTATATAT TGATATATTTATCTATAAATATAAAAATATTTATATATTGATATATTTAT CTATAAATATAAAAATATTGATATATTTATCTATAAATATAAAAATATTT ATATATTTATCTATAAATATAAAAATATTTATATATTTATAAATATAAAA ATATTTATATATTTATAAATATAAAAATATTTATATATTTATAAATATAA AAATATTTATATATTTATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975544	T T	TATAAATA others(555): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATT TATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATCAA TATTTTTATATTTATAGATAAATATATCAATATATAAATATTTTTATATT TATAGATAAATATATCAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTT TATATTTATAGATAAATATATAAATATTTTTATATTTATAAATATATAAA TATTTTTATATTTATAAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	306	0.0033	562	c.130 others(581): Show c.1308+1032_1308+1033insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTAT AAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATAT TTATATATTGATATATTTATCTATAAATATAAAAATATTGATATATTTAT CTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTT ATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATAT TTATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCC6_chr16_16144565_16228494	16172318	T T	TGGGTGGG others(555): Show TGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGG ATGCATAAATGAGTGGGTGGGATGCATAAATGAGGTGGGATGGATAAATG AGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGGGGGTG GGATGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGAT GGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAAT GAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGAGTGGGT GGGATGGATAAATGGGTGGGTGGGATGGATAAATGGGTGGGATGGATGGA TAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGGG TGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGG ATGGCTAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAA ATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGGGTGG GTGGGATGGCTAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0259 a0007c0008t0001g0259	1	357	0.0028	562	c.278 others(579): Show c.2787+965_2787+966insTTAGCCATCCCACCCACCCATTTATCCA TCCCACCCACTCATTTATCCATCCCACCCACTCATTTATCCATCCCACCC ACCCATTTATCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATTT ATCCATCCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCC CACCCACTCATTTAGCCATCCCACCCACTCATTTATCCATCCATCCCACC CATTTATCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATC CATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTATCCATCCCAC CCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCACTCAT TTATCCATCCCACCCACTCATTTATCCATCCATCCCACCCCCTCATTTAT CCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTATCCATCCCA CCTCATTTATGCATCCCACCCACTCATTTATGCATCCCACCCACTCATTT ATCCATCCCACCCACTCATTTATCCATCCCACCC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABR_chr17_998519_1184981	1173335	A A	ACATCACC others(555): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACATCACCTC AGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCTCAG CCCACCCCCCCCACACATCACCTCAGCCCACCCAACACATCACCTCAGCC CACCCAACACGTCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCA ACACATCACCTCAGTCCACTCAACACATCACCTCAGTCCACCCCCCGCCC CATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCAC CTCAGCCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGC CCACCCAACACATCACCTCAGTCCACCCCCCCATCACCTCAGCCCACCCA ACACATCACCTCAGTCCACTCAACACATCACCTCAGCCCACCCCCCCCAT CACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTC AGTCCACCCCCCC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0229 a0001c0003t0016g0229	1	337	0.0030	562	c.61+ others(577): Show c.61+6331_61+6332insGGGGGGGTGGACTGAGGTGATGTGTTGGGT GGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTG AGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGA TGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTG GGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGA CTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTG AGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGA TGTGTTGGGTGGGCTGAGGTGACGTGTTGGGTGGGCTGAGGTGATGTGTT GGGTGGGCTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGATGTCGGGG GGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGG GTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGC TGAGGTGATGTGTTGGGTGGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1289848	T T	TCTCTGCC others(555): Show TCTCTGCCCCGTCCCCGTGTCTCTGCTCCGTCCCCCGTGTCCTGCCCCGT CCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCGTCCCGTGTCTC TGCTCCGTCCCCCGTGTCCCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCC CGTGTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGT CCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCCCCGTCCCC CGTGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	295	0.0034	562	c.37 others(573): Show c.3715_*3716insGGCAGAGACACGGGACGGGGCAGAGACACGGACG GAGCAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGGGACACGG GGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGAG ACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGGGC AGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACG GGGCAGAGACACGGGACGGAGCAGACACGGGACGGAGCAGAGACACGGGG GACGGGGCAGGGACACGGGGGACGGAGCAGAGACACGGGACGGGCAGAGA CACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGGGACGGAG CAGAGACACGGGACGGAGCAGAGACACGGGGACGGGGCAGAGACACGGGG GACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAG ACACGGGGGACGGAGCAGAGACACGGGGGACGGGGCAGGACACGGGGGAC GGAGCAGAGACACGGGGACGGGGCAGAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2542		chr1	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(555): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAAGGAAAGGAGGGATGGGAGGGTGGGAGAGAAG GAAAGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGA GGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGG GAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAAGGAAAGGAG GGATGGGAGGGTGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAGAGATGGGAGGGAGGGAA GGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGGAGGGATGGGAGGGTGGG AGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAG GGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGA GGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0066 a0001c0007t0007g0066	1	228	0.0044	562	c.259 others(583): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCTTTCCTTCTCTCCCACCCTCCC ATCCCTCCTTTCCTTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTC CCATCTCTCCTTTCCTTCCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCC CACCCTCCCATCCCTCCTTTCCTTCCCACCCTCCCATCCCTCCTTTCCTT CCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCT TTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCC CATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCTTTCCTTCTCTCCCA CCCTCCCATCCCTCCTTTCCTTCCCACCCTCCCATCCCTCCTTTCCTTCC CACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCTCTCCTTTCCTT CCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
AFF2_chrX_148495617_149005663	148581249	C C	CATATACG others(555): Show CATATACGTATACGTATACACACATATACGTATACGTATACACACATATA CACGTATACGTATACACACATATACACGTATACGTATACACACATATACA CGTATACGTGTACACACATATACACGTATATACGTATACGTGTACACACA TATACACGTATATACGTATACGTGTACACACATATACACGTATATACGTA TACGTGTACACACATATACACGTATATACGTATACGTGTACACACATATA CACGTATATACGTATACGTGTACACACATATATATACACGTATATATACG TATACGTGTACACACACACACGTATATATACGTATACGTGTACACACACA CGTATATATACGTATACGTGTACACACACACGTATATATACGTATACGTG TACACACACACGTATATATACGTATACGTGTACACACACACGTATATATA CGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACACA CGTATATATACGTATACGTGTACACACACACGTATATACGTATACGTGTA CACACACACACGT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0014 a0001c0001t0059g0014	1	169	0.0059	562	c.48- others(579): Show c.48-70736_48-70735insATACACACATATACGTATACGTATACAC ACATATACACGTATACGTATACACACATATACACGTATACGTATACACAC ATATACACGTATACGTGTACACACATATACACGTATATACGTATACGTGT ACACACATATACACGTATATACGTATACGTGTACACACATATACACGTAT ATACGTATACGTGTACACACATATACACGTATATACGTATACGTGTACAC ACATATACACGTATATACGTATACGTGTACACACATATATATACACGTAT ATATACGTATACGTGTACACACACACACGTATATATACGTATACGTGTAC ACACACACGTATATATACGTATACGTGTACACACACACGTATATATACGT ATACGTGTACACACACACGTATATATACGTATACGTGTACACACACACGT ATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTAC ACACACACGTATATATACGTATACGTGTACACACACACGTATATACGTAT ACGTGTACACACACACACGTATATACGTATACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARHGAP39_chr8_144524179_144690846	144531191	A A	AGAGCAGC others(555): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACAG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCA GCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGG CAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAG GGCACAGGGCAGG	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0242 a0001c0002t0001g0242	1	246	0.0041	562	c.298 others(579): Show c.2981-321_2981-320insCCTGCCCTGTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGT GCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCG CTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCC CACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAG CCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144531191	A A	AGAGCAGC others(555): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACAT AGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCA GCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGG CAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAG GGCACAGGGCAGG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0035	1	246	0.0041	562	c.298 others(579): Show c.2981-321_2981-320insCCTGCCCTGTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGT GCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCG CTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCC CACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTC CCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTGTGT CCAGTCCACACCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144531191	A A	AGAGCAGC others(555): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCA GCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGG CAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAG GGCACAGGGCAGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp1 HG01070.hp1 HG00280.hp2 HG00741.hp1 HG01070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0099 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0099	3	246	0.0122	562	c.298 others(579): Show c.2981-321_2981-320insCCTGCCCTGTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGT GCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCG CTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCC CACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAG CCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTGTGT CCAGTCCACACCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049495	T T	TGGGGGCA others(555): Show TGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGAGGGCA GAGGAGAACACATGGGGGGCAGAGGAGAATACATGGGGGGCAGAGGAGAA CACATGGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGG GGGCAGAGGGGAACACATGGAGGGCAGAGGAGAACACATGGGGGCAGAGG GGAACACATGGGGGCAGAGGGGGAACACATGGGGGCAGAGGAGAACACAT GGGGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAATACATGGGGGGCA GAGGAGAACACATGGGGGGCAGAGGGGAACACATGGGGGCAGAGGAGAAC ACATGGGGGGCAGAGGAGAATACATGGAGGGCAGAGGAGAACACATGGGG GGCAGAGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGCAGAGGG GAACACATGGGGGCAGAGGGGGAACACATGGGGGCAGAGGGGAATACATG GGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAG AGGAGAACACATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0101 a0002c0002t0001g0101	1	308	0.0033	562	c.52 others(573): Show c.5235_*5236insCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCT CTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCC ATGTGTTCCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCCCATGTGTTCC CCTCTGCCCCCCATGTGTTCCCCTCTGCCCCCCATGTGTTCTCCTCTGCC CTCCATGTATTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCATGTG TTCCCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTC TGCCCCCCATGTGTTCCCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCA TGTGTTCCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCCCATGTGTTCTC CTCTGCCCTCCATGTGTTCCCCTCTGCCCCCCATGTGTTCTCCTCTGCCC CCCATGTATTCCCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTA TTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCTCCATGTGTTCCCCTC TGCCCCCCATGTGTTCTCCTCTGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2608		chr8	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAG others(555): Show ATATATAGTTTATATATATATAGTTTATATATATATACTATATATATAGT TTATATATACTATATATATAGTTTATATATATATACTATATATAGTTTAT ATATATATACTATATATAGTATATATATACTATATATATACTATATATAT AGTTTATATATATACACTATATATATAGTTTATATATATACTATATATAT AGTTTATATATATACTATATATATAGTTTATATATATATACTATATATAT AGTTTATATATATATACTATATATATAGTTTATATATATATAAACTATAT ATATAGTTTATATATATATATACTATATATATAGTATATATATATATAAA CTATATATATAGTTTATATATATATAAACTATATATATAGTTTATATATA TATATACTATATATATAGTTTATATATATATATATACTATATATATAGTT TATATATATATATACTATATATATAGTTTATATATATATACTATATATAT AGTTTATATATATATATACTATATATATAGTTTATATATATATATACTAT ATATATAGTTTAT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0251 a0001c0001t0002g0251	1	304	0.0033	562	c.331 others(581): Show c.3314-1170_3314-1169insATAAACTATATATATAGTATATATAT ATATAAACTATATATATAGTATATATATATATAAACTATATATATAGTAT ATATATATAAACTATATATATAGTATATATATATATAAACTATATATATA GTATATATATATATATAAACTATATATATAGTATATATATATATAAACTA TATATATAGTTTATATATATATAAACTATATATATAGTTTATATATATAT ATACTATATATATAGTATATATATATATAAACTATATATATAGTTTATAT ATATATAAACTATATATATAGTATATATATATAAACTATATATATAGTAT ATATATATAAACTATATATATAGTATATATATAAACTATATATATAGTAT ATATATAAACTATATATATAGTGTATATATATAAACTATATATATAGTAT ATATATAGTATATATATACTATATATAGTATATATATATAAACTATATAT AGTATATATATATAAACTATATATATAGTATATATAAACTATATATATAG TATATATATATAAACTATATATATATAAACTATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP13A3_chr3_194397677_194492002	194421141	A A	ATATAGTT others(555): Show ATATAGTTTATATATATATAGTTTATATATATATACTATATATATAGTTT ATATATACTATATATATAGTTTATATATATATACTATATATAGTTTATAT ATATATACTATATATAGTATATATATACTATATATATACTATATATATAG TTTATATATATACTATATATATAGTTTATATATATACTATATATATAGTT TATATATATATACTATATATATAGTTTATATATATATACTATATATATAG TATATATATATAAACTATATATATAGTTTATATATATATAAACTATATAT ATAGTTTATATATATATACTATATATATAGTATATATATATAAACTATAT ATATAGTTTATATATATATAAACTATATATATAGTTTATATATATATATA CTATATATATAGTTTATATATATATATATACTATATATATAGTTTATATA TATATATACTATATATATAGTTTATATATATATACTATATATATAGTTTA TATATATATATACTATATATATAGTTTATATATATATATACTATATATAT AGTTTATATATAG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0002 a0001c0002t0020g0003 a0001c0002t0020g0002 a0001c0002t0020g0003	2	304	0.0066	562	c.331 others(581): Show c.3314-1175_3314-1174insCTATATATAAACTATATATATAGTAT ATATATATATAAACTATATATATAGTATATATATATATAAACTATATATA TAGTATATATATATAAACTATATATATAGTATATATATATATAAACTATA TATATAGTATATATATATATATAAACTATATATATAGTATATATATATAT AAACTATATATATAGTTTATATATATATAAACTATATATATAGTTTATAT ATATATACTATATATATAGTATATATATATAAACTATATATATAGTTTAT ATATATATAAACTATATATATAGTTTATATATATATACTATATATATAGT ATATATATATAAACTATATATATAGTATATATATATAAACTATATATATA GTATATATATAAACTATATATATAGTATATATATAAACTATATATATAGT ATATATATAGTATATATATACTATATATAGTATATATATATAAACTATAT ATAGTATATATATATAAACTATATATATAGTATATATAAACTATATATAT AGTATATATATATAAACTATATATATATAAACTATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP13A3_chr3_194397677_194492002	194421151	A A	AGTTTATA others(555): Show AGTTTATATATATATACTATATATATAGTTTATATATACTATATATATAG TTTATATATATATACTATATATAGTTTATATATATATACTATATATAGTA TATATATACTATATATATACTATATATATAGTTTATATATATATACTATA TATATAGTTTATATATATACTATATATATAGTTTATATATATACTATATA TATAGTTTATATATATATACTATATATATAGTTTATATATATATACTATA TATAGTATATATATATATAAACTATATATATAGTTTATATATATATAAAC TATATATATAGTTTATATATATATATACTATATATATAGTTTATATATAT ATATACTATATATATAGTTTATATATATATATACTATATATATAGTTTAT ATATATATATACTATATATATAGTTTATATATATATACTATATATATAGT TTATATATATATATACTATATATATAGTTTATATATATATATACTATATA TATAGTTTATATATATATATACTATATATATAGTTTATATATATATATAC TATATATATAGTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0181	1	304	0.0033	562	c.331 others(581): Show c.3314-1185_3314-1184insAACTATATATATAGTATATATATATA TAAACTATATATATAGTATATATATATATAAACTATATATATAGTATATA TATATATAAACTATATATATAGTATATATATATATAAACTATATATATAG TATATATATATAAACTATATATATAGTATATATATATATAAACTATATAT ATAGTATATATATATATAAACTATATATATAGTATATATATATATAAACT ATATATATAGTATATATATATATAAACTATATATATAGTTTATATATATA TAAACTATATATATAGTTTATATATATATATACTATATATAGTATATATA TATAAACTATATATATAGTATATATATATAAACTATATATATAGTATATA TATAAACTATATATATAGTATATATATAAACTATATATATAGTATATATA TATAAACTATATATATAGTATATATATAGTATATATATACTATATATAGT ATATATATATAAACTATATATAGTATATATATATAAACTATATATATAGT ATATATAAACTATATATATAGTATATATATATAAAC	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP9B_chr18_79064394_79383283	79327748	G G	GTGTTTAG others(555): Show GTGTTTAGCGTGCTCTCCGTGGTTAGCGTGCCCTCCGTGGTTAGTGTGCC CTCCCTGGTTAGCGTGCTCTCCGTGTTTAGCGTGCTCTCCGTGGTTAGCG TGCCCTCCCTGGTTAGCGTGCTCTCCGTGTTTAGCATGCTCTCCGTGTTT AGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGTGTGCTCTCTCC ATGGTTAGCGTGCTCGCCGTGGTTAGCGTGCTCTCCGTGGTTAACGTGCT CTCCGTGGTTAACGTGCCCTCCGTGGTTAGCGTGCCCTCCGTGGTTAGCG TGCCCTCCCTGGTTAGCGTGCTCTCCGTGTTTAGCATGCTCTCCGTGTTT AGCGTGCTCTCCGTGTTTAGCGTGCTCTCCGTGGTTAGCGTGCCCTCCGT GGTTAGTGTGCCCTCCCTGGTTAGCGTGCTCTCCGTGTTTAGCGTGCTCT CCGTGGTTAGCGTGCCCTCCCTGGTTAGCGTGCTCTCCGTGTTTAGCATG CTCTCCGTGTTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAG TGTGCTCTCTCCA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	298	0.0034	562	c.177 others(581): Show c.1774-1391_1774-1390insTTTAGCGTGCTCTCCGTGGTTAGCGT GCCCTCCGTGGTTAGTGTGCCCTCCCTGGTTAGCGTGCTCTCCGTGTTTA GCGTGCTCTCCGTGGTTAGCGTGCCCTCCCTGGTTAGCGTGCTCTCCGTG TTTAGCATGCTCTCCGTGTTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTC CGTGGTTAGTGTGCTCTCTCCATGGTTAGCGTGCTCGCCGTGGTTAGCGT GCTCTCCGTGGTTAACGTGCTCTCCGTGGTTAACGTGCCCTCCGTGGTTA GCGTGCCCTCCGTGGTTAGCGTGCCCTCCCTGGTTAGCGTGCTCTCCGTG TTTAGCATGCTCTCCGTGTTTAGCGTGCTCTCCGTGTTTAGCGTGCTCTC CGTGGTTAGCGTGCCCTCCGTGGTTAGTGTGCCCTCCCTGGTTAGCGTGC TCTCCGTGTTTAGCGTGCTCTCCGTGGTTAGCGTGCCCTCCCTGGTTAGC GTGCTCTCCGTGTTTAGCATGCTCTCCGTGTTTAGCGTGCTCTCCGTGGT TAGCGTGCTCTCCGTGGTTAGTGTGCTCTCTCCATG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
C20orf96_chr20_265863_295750	279045	C C	CGGGAGGG others(555): Show CGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAG GGAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGG AGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGCG GGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGG AGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAC GGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGG ACGGAGGGCGGGAGGGAGGGAGGGCGGGCGGGACGGAGGGAGGGCGGGAC GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGACGGAGGGACGGAGGGAGGG AGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGG GAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGA GGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGG AGGGATGGAGGGA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0006 a0001c0010t0006	a0001c0010t0006g0028 a0001c0010t0006g0028	1	410	0.0024	562	c.465 others(577): Show c.465+126_465+127insTCCCTCCATCCCTCCCGCCCTCCCTCCCTC CGTCCCGCCCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGT CCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCC TCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCTC CGTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCG TCCCGCCCGCCCTCCCTCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTC CCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCC TCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTC CGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCG TCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGC CCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCC TCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGAGGG others(555): Show AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGG AGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAC GGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGG AGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAG GGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGG AGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGAGGGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGG CGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGG GAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAG GGCGGGACGGAGGGAGGGAGGGCGGGAGGGATGGAGGGAGGGAGGGCGGG ACGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03491.hp2 HG03492.hp1 HG02602.hp1 HG03491.hp2 HG03492.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0272 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0272	3	410	0.0073	562	c.465 others(577): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCTCCCTC CATCCCTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCT CCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCC CTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTC CCTCCCTCCCTCCGTCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCC GCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCGCCCTCCCTC CGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCC TCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTC CCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCC TCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTC CCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCC GCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C2orf80_chr2_208160347_208195030	208176907	G G	GTATACAT others(555): Show GTATACATATCTGTATATACATATCTGTATACATATCTGTATATACATAT CTGTATACATATGTATATACATATCTGTATACATATGTATACATATCTGT ATACATATGTATATACATATCTGTATACATATGTATATACATATCTGTAT ACATATGTATACATATCTGTATACATATGTGTATACATATCTGTATATAC ATATGTGTATACATATCTGTATATACATATGTGTATACATATCTGTATAC ATATGTGTATACATATCTGTATACACATGTGTATACATATCTGTATACAT ATCTGTATACATATGTATACATATCTGTATACATATGTGTATACAGATCT GTATACATATGTATACAGATCTGTATACATATGTGTATACATATCTGTAT ACATATGTGTATACAGATCTGTATACATATGTGTATACATATCTGTATAC ATATGTATACATATCTGTATACATATGTATACATATCTGTATACATATGT ATACATATCTGTATACATATGTATACATATCTGTATACATATGTATACAT ATCTGTATACATA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0046	1	342	0.0029	562	c.366 others(579): Show c.366+3837_366+3838insTATGTATACAGATATGTATACATATGTA TACAGATATGTATACATATGTATACAGATATGTATACATATGTATACAGA TATGTATACATATGTATACAGATATGTATACATATGTATACAGATATGTA TACACATATGTATACAGATCTGTATACACATATGTATACAGATATGTATA CACATATGTATACAGATCTGTATACATATGTATACAGATCTGTATACACA TATGTATACAGATATGTATACATATGTATACAGATATGTATACAGATATG TATACACATGTGTATACAGATATGTATACACATATGTATACAGATATGTA TACACATATGTATATACAGATATGTATACACATATGTATATACAGATATG TATACACATATGTATACAGATATGTATACATATGTATACAGATATGTATA TACATATGTATACAGATATGTATATACATATGTATACAGATATGTATACA TATGTATACAGATATGTATATACATATGTATACAGATATGTATATACAGA TATGTATACAGATATGTATATACAGATATGTATA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
C2orf80_chr2_208160347_208195030	208176907	G G	GTATACAT others(555): Show GTATACATATCTGTATATACATATCTGTATACATATCTGTATATACATAT CTGTATACATATGTATATACATATCTGTATACATATGTATACATATCTGT ATACATATGTATATACATATCTGTATACATATGTATATACATATCTGTAT ACATATGTATACATATCTGTATACATATGTGTATACATATCTGTATATAC ATATGTGTATACATATCTGTATATACATATGTGTATACATATCTGTATAC ATATGTGTATACATATCTGTATACACATGTGTATACATATCTGTATACAT ATCTGTATACATATGTATACATATCTGTATACATATGTGTATACATATCT GTATACATATGTATACAGATCTGTATACATATGTGTATACATATCTGTAT ACATATGTGTATACAGATCTGTATACATATGTGTATACATATCTGTATAC ATATGTATACATATCTGTATACATATGTATACATATCTGTATACATATGT ATACATATCTGTATACATATGTATACATATCTGTATACATATGTATACAT ATCTGTATACATA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0166 a0002c0002t0001g0166	1	342	0.0029	562	c.366 others(579): Show c.366+3837_366+3838insTATGTATACAGATATGTATACATATGTA TACAGATATGTATACATATGTATACAGATATGTATACATATGTATACAGA TATGTATACATATGTATACAGATATGTATACATATGTATACAGATATGTA TACACATATGTATACAGATCTGTATACACATATGTATACAGATATGTATA CACATATGTATACAGATCTGTATACATATGTATACAGATATGTATACACA TATGTATACAGATATGTATACATATGTATACAGATATGTATACAGATATG TATACACATGTGTATACAGATATGTATACACATATGTATACAGATATGTA TACACATATGTATATACAGATATGTATACACATATGTATATACAGATATG TATACACATATGTATACAGATATGTATACATATGTATACAGATATGTATA TACATATGTATACAGATATGTATATACATATGTATACAGATATGTATACA TATGTATACAGATATGTATATACATATGTATACAGATATGTATATACAGA TATGTATACAGATATGTATATACAGATATGTATA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
C2orf80_chr2_208160347_208195030	208176907	G G	GTATACAT others(555): Show GTATACATATCTGTATATACATATCTGTATACATATCTGTATATACATAT CTGTATACATATGTATATACATATCTGTATACATATGTATACATATCTGT ATACATATGTATATACATATCTGTATACATATGTATATACATATCTGTAT ACATATGTATACATATCTGTATACATATGTGTATACATATCTGTATATAC ATATGTGTATACATATCTGTATATACATATGTGTATACATATCTGTATAC ATATGTGTATACATATCTGTATACATATGTGTATACATATCTGTATACAT ATCTGTATACATATGTATACATATCTGTATACATATGTGTATACAGATCT GTATACATATGTATACAGATCTGTATACATATGTGTATACATATCTGTAT ACATATGTGTATACAGATCTGTATACATATGTGTATACAGATCTGTATAC ATATGTATACATATCTGTATACATATGTATACATATCTGTATACATATGT ATACATATCTGTATACATATGTATACATATCTGTATACATATGTATACAT ATCTGTATACATA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0163 a0002c0002t0001g0163	1	342	0.0029	562	c.366 others(579): Show c.366+3837_366+3838insTATGTATACAGATATGTATACATATGTA TACAGATATGTATACATATGTATACAGATATGTATACATATGTATACAGA TATGTATACATATGTATACAGATATGTATACATATGTATACAGATCTGTA TACACATATGTATACAGATCTGTATACACATATGTATACAGATATGTATA CACATATGTATACAGATCTGTATACATATGTATACAGATCTGTATACACA TATGTATACAGATATGTATACATATGTATACAGATATGTATACAGATATG TATACACATATGTATACAGATATGTATACACATATGTATACAGATATGTA TACACATATGTATATACAGATATGTATACACATATGTATATACAGATATG TATACACATATGTATACAGATATGTATACATATGTATACAGATATGTATA TACATATGTATACAGATATGTATATACATATGTATACAGATATGTATACA TATGTATACAGATATGTATATACATATGTATACAGATATGTATATACAGA TATGTATACAGATATGTATATACAGATATGTATA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
C2orf80_chr2_208160347_208195030	208176907	G G	GTATACAT others(555): Show GTATACATATCTGTATATACATATCTGTATACATATCTGTATATACATAT CTGTATACATATGTATATACATATCTGTATACATATGTATACATATCTGT ATACATATGTATATACATATCTGTATACATATGTATATACATATCTGTAT ACATATGTATACATATCTGTATACATATGTGTATACATATCTGTATATAC ATATGTGTATACATATCTGTATATACATATGTGTATACATATCTGTATAC ATATGTGTATACATATCTGTATACATATGTGTATACATATCTGTATACAT ATCTGTATACATATGTATACATATCTGTATACATATGTGTATACAGATCT GTATACATATGTATACAGATCTGTATACATATGTGTATACATATCTGTAT ACATATGTGTATACAGATCTGTATACATATGTGTATACATATCTGTATAC ATATGTATACATATCTGTATACATATGTATACATATCTGTATACATATGT ATACATATCTGTATACATATGTATACATATCTGTATACATATGTATACAT ATCTGTATACATA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0094 a0002c0002t0001g0094	1	342	0.0029	562	c.366 others(579): Show c.366+3837_366+3838insTATGTATACAGATATGTATACATATGTA TACAGATATGTATACATATGTATACAGATATGTATACATATGTATACAGA TATGTATACATATGTATACAGATATGTATACATATGTATACAGATATGTA TACACATATGTATACAGATCTGTATACACATATGTATACAGATATGTATA CACATATGTATACAGATCTGTATACATATGTATACAGATCTGTATACACA TATGTATACAGATATGTATACATATGTATACAGATATGTATACAGATATG TATACACATATGTATACAGATATGTATACACATATGTATACAGATATGTA TACACATATGTATATACAGATATGTATACACATATGTATATACAGATATG TATACACATATGTATACAGATATGTATACATATGTATACAGATATGTATA TACATATGTATACAGATATGTATATACATATGTATACAGATATGTATACA TATGTATACAGATATGTATATACATATGTATACAGATATGTATATACAGA TATGTATACAGATATGTATATACAGATATGTATA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
C7orf50_chr7_992006_1143247	1116289	G G	GGATGATG others(555): Show GGATGATGACATGACTGCAGCTCTACGGACCGGCTTCCATCACCGACGTC CACGCAGGATGATGACATCACTGCAGTTCTAGGACCGGCTTCCATCACCG ACGCCCACGCAGGATGATGACATCACTGCAGCTCTACGGACCGGCTTCCA TCACCGACGCCCACGCAGGATGATGACATCACTGCAGCTCTACGGACCGG CTTCCATCACCGACGCCCACGCAGGATGATGACATCACTGCAGCTCTACG GACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACATCACTGCAGC TCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACATCAC TGCAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGA CATCACTGCAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGA TGATGACATCACTGCAGCTCTACGGACCGGCTTCCATCACCGACGCCCAC GCAGGATGATGACATCACTGCAGCTCTACGGACCGGCTTCCATCACCGAC GCCCACGCAGGAT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0176 a0001c0001t0004g0176	1	326	0.0031	562	c.129 others(581): Show c.129+10967_129+10968insATCCTGCGTGGGCGTCGGTGATGGAA GCCGGTCCGTAGAGCTGCAGTGATGTCATCATCCTGCGTGGGCGTCGGTG ATGGAAGCCGGTCCGTAGAGCTGCAGTGATGTCATCATCCTGCGTGGGCG TCGGTGATGGAAGCCGGTCCGTAGAGCTGCAGTGATGTCATCATCCTGCG TGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCTGCAGTGATGTCATCAT CCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCTGCAGTGATGT CATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCTGCAG TGATGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAG CTGCAGTGATGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCC GTAGAGCTGCAGTGATGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGC CGGTCCTAGAACTGCAGTGATGTCATCATCCTGCGTGGACGTCGGTGATG GAAGCCGGTCCGTAGAGCTGCAGTCATGTCATCATC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C8orf82_chr8_144520733_144534111	144531191	A A	AGAGCAGC others(555): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACAG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCA GCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGG CAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAG GGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 NA18983.hp1 NA18997.hp2 HG01993.hp2 NA18983.hp1 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0004 a0001c0001t0001g0007	3	398	0.0075	562	c.-22 others(573): Show c.-2276_-2275insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCC CACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTA TGTCTAGCCCACTCCCCACCTGCTGCTC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531191	A A	AGAGCAGC others(555): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACAT AGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCA GCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGG CAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAG GGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	398	0.0025	562	c.-22 others(573): Show c.-2276_-2275insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTGTGTCCAGTC CACACCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTA TGTCTAGCCCACTCCCCACCTGCTGCTC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531191	A A	AGAGCAGC others(555): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCA GCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGG CAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAG GGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00741.hp1 HG01070.hp2 HG00280.hp1 HG00741.hp1 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	398	0.0075	562	c.-22 others(573): Show c.-2276_-2275insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTGTGTCCAGTC CACACCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTA TGTCTAGCCCACTCCCCACCTGCTGCTC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(555): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCTCCCCTCCCCCCTCCCCTCCCCCGTCCCCCCTCCCCTCCCCCCTC CCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCC TCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	256	0.0039	562	c.-45 others(583): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCCGTCCCCCCTCC CCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCC CTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(555): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCCCC TCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTC CCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCC TCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	256	0.0039	562	c.-45 others(583): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCC CCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCC CTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(555): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTC CCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCC TCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	256	0.0039	562	c.-45 others(583): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCC CCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCC CTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(555): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTC CCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCC TCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	256	0.0039	562	c.-45 others(583): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCC CCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCC CTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(555): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCTCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCC TCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	256	0.0039	562	c.-45 others(583): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCTCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCC CTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
DCLK1_chr13_35763652_36136382	35958131	A A	ACTGTAAC others(555): Show ACTGTAACCATCACCACCACCACTGCTATAACCACCACCACCACCACTAT AACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCACTA TAACCACCACCACCACCACTATAACCACCATCATCATCACCACCACTACC ACTACTGTAACCATCACCACCACCACTGCTATAACCATCACCACTACCAC TACTACCACTACTACAACCATTACCACCATCACTGCTATAACCACCACCA CCACCACCATTATCACCATCACCATCACACACCACAACTACCACCACCAC CACCATCACCACTATAACCACTAGCACCACCACCACTACTATAACCATCA CCACCGCTATAACCACCATCACCACCACCACTACCACTACTGTAACCATC ACCACCATCACTGCTATAACCACCACCACCACCACTATAACCATCACCAC CATCACCACTATAACCACCACTAGCACCACCACCACTACTATAACCATCA CCACCGCTATAACCACCATCACCACCACCACTACCACTACTGTAACCATC ACCACCATCACTG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0035 a0001c0006t0035	a0001c0006t0035g0155 a0001c0006t0035g0155	1	230	0.0044	562	c.724 others(581): Show c.724-10675_724-10674insCAGTGATGGTGGTGATGGTTACAGTA GTGGTAGTGGTGGTGGTGATGGTGGTTATAGCGGTGGTGATGGTTATAGT AGTGGTGGTGGTGCTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTA TAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGGTTACAGTA GTGGTAGTGGTGGTGGTGATGGTGGTTATAGCGGTGGTGATGGTTATAGT AGTGGTGGTGGTGCTAGTGGTTATAGTGGTGATGGTGGTGGTGGTGGTAG TTGTGGTGTGTGATGGTGATGGTGATAATGGTGGTGGTGGTGGTGGTTAT AGCAGTGATGGTGGTAATGGTTGTAGTAGTGGTAGTAGTGGTAGTGGTGA TGGTTATAGCAGTGGTGGTGGTGATGGTTACAGTAGTGGTAGTGGTGGTG ATGATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGT GGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGG TGGTGGTTATAGCAGTGGTGGTGGTGATGGTTACAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DCLK1_chr13_35763652_36136382	35958131	A A	ACTGTAAC others(555): Show ACTGTAACCATCACCACCATCACTGCTATAACCACCACCACCACCACTAT AACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCACTA TAACCACCACCACCACCACTATAACCACCATCATCATCACCACCACTACC ACTACTATAACCATCACCACCATCACTGCTATAACCACCACCACCACCAC TATAACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCA CTATAACCACCACCACCACCACTATAACCACCATCATCATCACCACCACT ACCACTACTGTAACCATCACCACCACCACTGCTATAACCATCACCACTAC CACTACTACCACTACTACAACCATTACCACCATCACTGCTATAACCACCA CCACCACCACCATTATCACCATCACCATCACACACCACAACTACCACCAC CACCACCATCACCACTATAACCACTAGCACCACCACTACTATAACCATCA CCACCGCTATAACCACCATCACCACCACCACTACCACTACTGTAACCATC ACCACCATCACTG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0142 a0001c0005t0003g0142	1	230	0.0044	562	c.724 others(581): Show c.724-10675_724-10674insCAGTGATGGTGGTGATGGTTACAGTA GTGGTAGTGGTGGTGGTGATGGTGGTTATAGCGGTGGTGATGGTTATAGT AGTGGTGGTGCTAGTGGTTATAGTGGTGATGGTGGTGGTGGTGGTAGTTG TGGTGTGTGATGGTGATGGTGATAATGGTGGTGGTGGTGGTGGTTATAGC AGTGATGGTGGTAATGGTTGTAGTAGTGGTAGTAGTGGTAGTGGTGATGG TTATAGCAGTGGTGGTGGTGATGGTTACAGTAGTGGTAGTGGTGGTGATG ATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGTGGT AGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGGTGG TGGTTATAGCAGTGATGGTGGTGATGGTTATAGTAGTGGTAGTGGTGGTG ATGATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGT GGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGG TGGTGGTTATAGCAGTGATGGTGGTGATGGTTACAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DECR2_chr16_396885_417482	397716	G G	GTGAGGGA others(555): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGTGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	367	0.0027	562	c.-42 others(573): Show c.-4248_-4247insTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGGGGGGGC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4168		chr16	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCCC others(555): Show GCACCCCCACCCCCACCCGCACCCCCACCCCCCACCCCCACCCGCACCCC CACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCA CCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACC CGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCCCACCCG CACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCA CCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACC CCCACCCCCACCCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCC CCACCCGCACCCCCACCCCCCACCTCCACCCCCACCCGCACCCGCACCCC CACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCA CCCGCACCCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCCAC CCTCACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCACCCCCACCC TCACCCGCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	320	0.0031	562	c.39 others(573): Show c.3972_*3973insGGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGG TGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGGTG GGGGTGCGGGTGGGGGTGGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGC GGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGG GTGGAGGTGGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGG TGCGGGTGCGGGTGGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGT GCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGC GGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGG GTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGT GGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGG GGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGG GGTGGGGGTGCGGGTGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DPP6_chr7_154047398_154899285	154093469	C C	CATCATAT others(555): Show CATCATATACACCACACACAAACCACACACACAAACACAAACACCACACA TACCACGCACACCTACACCCAAAGACACTGTACACCATACACCACACTGT ACACACCACACACCACACCACACCAGACACCACACATACAGCACACACAC AAACACACCACACACACTACACTATATACCACACACACTCCAAACCCCAC ACACATTACACATCACACCACACACACACACACACCAGATAACATACCAC ACACTACATACCACATGTACCACACACAACACACATCCGACATACCACAC ACAGCACATACCACATACCACATTACATACCACACCACATACCACACATC CTACATACCACATCATACACACCACACACAACACATACTACACACCCCAC AGTACCACATACACCACATAACACACTACATGCCACACTTCTTCCATACA TCATACATACCACAAACATCACACAGCACACAGCACATACCACACATTCC ACATACGACATCATACACACCACACACACTGCACATATTATACCAACACA TCCCACATACCAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0010 a0001c0010t0010	a0001c0010t0010g0009 a0001c0010t0010g0009	1	38	0.0263	562	c.243 others(581): Show c.243+40440_243+40441insCACAAACACCACACATACCACGCACA CCTACACCCAAAGACACTGTACACCATACACCACACTGTACACACCACAC ACCACACCACACCAGACACCACACATACAGCACACACACAAACACACCAC ACACACTACACTATATACCACACACACTCCAAACCCCACACACATTACAC ATCACACCACACACACACACACACCAGATAACATACCACACACTACATAC CACATGTACCACACACAACACACATCCGACATACCACACACAGCACATAC CACATACCACATTACATACCACACCACATACCACACATCCTACATACCAC ATCATACACACCACACACAACACATACTACACACCCCACAGTACCACATA CACCACATAACACACTACATGCCACACTTCTTCCATACATCATACATACC ACAAACATCACACAGCACACAGCACATACCACACATTCCACATACGACAT CATACACACCACACACACTGCACATATTATACCAACACATCCCACATACC ATATCATATACACCACACACAAACCACACACACAAA	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
EEF1A2_chr20_63483014_63504083	63486870	C C	CCTGCATC others(555): Show CCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCAT CCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGG GAACCTGCCCACCCTCCACCCAACCCTCCTCCGCATCCTCAGGGAACCTG CCCACCCTTCCCCCCGACCCTCCTCTGCATCCTCAGGGAACCTGCCCACC CTCCCCCCCGACCCTCCTCTGTATCCTCAGGGAACCTGCCCACCCTCCAC CCCACCCTCCTCCGCATCCTCAGGGAAGCTGCCCACCCTCCACCCCACCC TCCTCTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCTG CATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTC AGGGAACCTGCCCACCTTCCACCCCACCCTCCTCCGCATCCTCAGGGAGC CTGCCCACCCTCCACCCAGACCCTCCTCTGCATCCTCAGGGAAGCTGCCC AACCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCTCC ACCCCACCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02809.hp1 HG02572.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0162 a0001c0001t0001g0050 a0001c0001t0001g0162	2	374	0.0054	562	c.14 others(573): Show c.1427_*1428insAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTG AGGATGCAGAGGAGGGTGGGGTGGAGGTTGGGCAGCTTCCCTGAGGATGC AGAGGAGGGTCTGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCGGAGGA GGGTGGGGTGGAAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGG GTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGG GTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCA GCTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCC TGAGGATACAGAGGAGGGTCGGGGGGGAGGGTGGGCAGGTTCCCTGAGGA TGCAGAGGAGGGTCGGGGGGAAGGGTGGGCAGGTTCCCTGAGGATGCGGA GGAGGGTTGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGGTGAGGTC AGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGGTGG AGGATGGGCAGGTTCCCTGAGGATGCAG	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1143		chr20	TogoVar
EXD3_chr9_137301896_137428162	137355499	A A	AGGAGAAA others(555): Show AGGAGAAAGGAGGAAGGAGGACGGAGGAAGGAGGAAGGAGGAAGGAGGAA GGAGAAAGGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGGAGGATGGAGGA AGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGAA GAGGAAGGAGGAAGGAGGAAGGAGGAAGGGAGGATGGAGGAAGGAGGAAG GAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAGAGGAAGGAGGAAGGAG GAAGGAGGAAGGGAGGAAGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGAG AAAGGAGGAAGGAGGACGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGG AAGGAGGAAGGAGGAAGGAGGAAGGGAGGATGGAGGAAGGAGGAAGGAGG AAGGAGGATGGAGGAAGGAGAAAGGGAGGAAGGAGAAAGGAGGAAGGGAG GAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAGAGGAA GGAGGAAGGAGGAAGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGAGGAAG GAGGAAGGAGGAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0020 a0011c0011t0001g0020	1	82	0.0122	562	c.758 others(577): Show c.758-727_758-726insATCCTCCTTCCTCCTTCCTCCTTCCTCCTT CCTCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCTTCTCCTTCCT CCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTTCT CCTTCCTCCCTTTCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCCTTCCT CCATCCTCCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCT CCTTCCTCCTTCCTCCGTCCTCCTTCCTCCTTTCTCCTTCCTCCTTCCTC CTTTCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCCTCCTTCCTC TTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCAT CCTCCCTTCCTCCTTCCTCCTTCCTCCTTCCTCTTCTCCTTCCTCCCTTT CTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCCTTC CTCCTTCCTCCTTTCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTC CTCCTTCCTCCGTCCTCCTTCCTCCTTTCTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
FMN2_chr1_240086883_240480187	240197755	G G	GTAGCGTA others(555): Show GTAGCGTAATCAAATAGCAGTATTAGCTAAGCAGTCACAATATGGAAGTG AAGTATTGGTGAGAGAGAAAAACTTGCAATAATCACTACCAAGATGAGAG ATTGAAGATATAAAAATTGATGAACTCTCCCAGTATATAGAGAGGGGATA GTAGGCTAAGTACAAAGTCTCTACTCCACCCCTCAAAAAATCCCAGGGAG GAAACAGAGAAAGAAATGAGGAGGAGCAGTGTAAAACTATAGAAGCCAGA AGAAAAGAGTTCTAAAGGGGAAGGAATGATTAATAGTCTCAGATTCTTTA TAAAGGACAGGGTTAAATCTATAGTATTTGGCAATAAGGAAACCACGAGC AGTGCCGAGAGTAATTCCATTAGAGTGGCAGGGCCAAAAGGCAGCTCTAC CACTCCAGGTAATAGTCCAAATCCACTCCATTTGATTTTCTCCAGGCTTT ATTCTTTAGGAAGATTTTTCTTTTTCTTTTCTTTTTTTTCTTTTTTGAAG ACGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGG CTCACTGCAACCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0004 a0004	a0004c0114 a0004c0114	a0004c0114t0006 a0004c0114t0006	a0004c0114t0006g0108 a0004c0114t0006g0108	1	174	0.0058	562	c.198 others(581): Show c.1987-9044_1987-9043insTAGCGTAATCAAATAGCAGTATTAGC TAAGCAGTCACAATATGGAAGTGAAGTATTGGTGAGAGAGAAAAACTTGC AATAATCACTACCAAGATGAGAGATTGAAGATATAAAAATTGATGAACTC TCCCAGTATATAGAGAGGGGATAGTAGGCTAAGTACAAAGTCTCTACTCC ACCCCTCAAAAAATCCCAGGGAGGAAACAGAGAAAGAAATGAGGAGGAGC AGTGTAAAACTATAGAAGCCAGAAGAAAAGAGTTCTAAAGGGGAAGGAAT GATTAATAGTCTCAGATTCTTTATAAAGGACAGGGTTAAATCTATAGTAT TTGGCAATAAGGAAACCACGAGCAGTGCCGAGAGTAATTCCATTAGAGTG GCAGGGCCAAAAGGCAGCTCTACCACTCCAGGTAATAGTCCAAATCCACT CCATTTGATTTTCTCCAGGCTTTATTCTTTAGGAAGATTTTTCTTTTTCT TTTCTTTTTTTTCTTTTTTGAAGACGGAGTCTCACTCTGTTGCCCAGGCT GGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCT	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	4/17			chr1	TogoVar

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Search Results (Total: 10000 hits)