Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
WDR87_chr19_37879823_37911594	37881138	T T	TAATATAT others(207): Show TAATATATATATAATATATATATTATATATATATAATATATATATTATAT ATATATAATATATATATATATTATATATATTATATATATATAATATATAT ATAATATATATATAATATATATATAATATATATATTATATATATATTATA TATATAATATATATATATTTTATATATATATTATATATATAATATATATA TAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	330	0.0030	214	c.37 others(225): Show c.3793_*3794insCTCTCTCTCTCTCTATATATATATTATATATATA ATATATATATAAAATATATATATATTATATATATAATATATATATAATAT ATATATTATATATATATTATATATATATTATATATATATTATATATATAT AATATATATAATATATATATATATTATATATATATAATATATATATTATA TATATATAATATATATATTATATATATATT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
XRCC2_chr7_152639776_152681141	152674705	T T	TATATATA others(207): Show TATATATAAAAATATATTTATATAATATATTTTTAAATATATATTATATA TAATATATATTTAAAAATATATTATATAAATATATTTTAAAATATGTATT ATATATAAATATATTTTTAAATATATATTATATATAAATATATTTTTAAA TATATATTATATATAAATATATTTTTAAATATATTTATATATAAATATAT TTTTAAATATATTTA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0317 a0001c0001t0015g0317	1	394	0.0025	214	c.39+ others(229): Show c.39+1335_39+1336insTAAATATATTTAAAAATATATTTATATATA AATATATTTAAAAATATATTTATATATAATATATATTTAAAAATATATTT ATATATAATATATATTTAAAAATATATTTATATATAATACATATTTTAAA ATATATTTATATAATATATTTTTAAATATATATTATATATAATATATATT TAAAAATATATTATATAAATATATTTTTATATAT	XRCC2	ENSG00000196584.4	transcript	ENST00000359321.2	protein_coding	1/2			chr7	TogoVar
XRCC2_chr7_152639776_152681141	152674705	T T	TATATATA others(207): Show TATATATAAAAATATATTTATATAATATATTTTTAAATATATATTATATA TAATATATTTTTAAATATATATTATATATAATATATATTTAAAAATATAT TATATAAATATATTTTAAAATATGTATTATATATAAATATATTTTTAAAT ATATATTATATATAAATATATTTTTAAATATATATTATATATAATATATT TTTAAATATATATTA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02809.hp1 HG03195.hp2 others(1): Show HG02622.hp2 HG02809.hp1 HG03195.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0339 a0001c0001t0005g0340 a0001c0001t0005g0341 others(1): Show a0001c0001t0005g0339 a0001c0001t0005g0340 a0001c0001t0005g0341 a0001c0001t0005g0342	4	394	0.0102	214	c.39+ others(229): Show c.39+1335_39+1336insTAATATATATTTAAAAATATATTATATATA ATATATATTTAAAAATATATTTATATATAATATATATTTAAAAATATATT TATATATAATACATATTTTAAAATATATTTATATAATATATTTTTAAATA TATATTATATATAATATATATTTAAAAATATATTATATATAATATATATT TAAAAATATATTATATAAATATATTTTTATATAT	XRCC2	ENSG00000196584.4	transcript	ENST00000359321.2	protein_coding	1/2			chr7	TogoVar
XRCC2_chr7_152639776_152681141	152674705	T T	TATATATA others(207): Show TATATATAAAAATATATTTATATAATATATTTTTAAATATATATTATATA TAATATATTTTTAAATATATATTATATATAATATATTTTTAAATATATAT TATATATAATATATATTTAAAAATATATTATATAAATATATTTTAAAATA TGTATTATATATAAATATATTTTTAAATATATATTATATATAAATATATT TTTAAATATATATTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp1 HG02055.hp2 others(9): Show HG01109.hp1 HG02055.hp1 HG02055.hp2 HG02615.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03130.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 NA18522.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0001c0001t0012 a0004c0004t0002 a0001c0001t0002 a0001c0001t0012 a0004c0004t0002	a0001c0001t0002g0297 a0001c0001t0002g0300 a0001c0001t0002g0346 others(8): Show a0001c0001t0002g0297 a0001c0001t0002g0300 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0012g0025 a0001c0001t0012g0296 a0001c0001t0012g0298 a0001c0001t0012g0299 a0004c0004t0002g0295	12	394	0.0305	214	c.39+ others(229): Show c.39+1335_39+1336insTAATATATATTTAAAAATATATTTATATAT AATATATATTTAAAAATATATTTATATATAATACATATTTTAAAATATAT TTATATAATATATTTTTAAATATATATTATATATAATATATATTTAAAAA TATATTATATATAATATATATTTAAAAATATATTATATATAATATATATT TAAAAATATATTATATAAATATATTTTTATATAT	XRCC2	ENSG00000196584.4	transcript	ENST00000359321.2	protein_coding	1/2			chr7	TogoVar
ZC3H12B_chrX_65029826_65512887	65450480	T T	TATATGTA others(207): Show TATATGTATATATGTACATATGTATATATGTATATATGTATATATATACA TGTATACATATGTATATATGTATACATATGTATATATGTATATATGTATA AATATACATATGTATATATATGTATATATGTATACATATGTATATATACA TATGTATATATATGTATATATGTATACATATGTATATATACATATGTATA TATATGTATATATGC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp2 HG02486.hp1 others(6): Show HG02109.hp2 HG02280.hp2 HG02486.hp1 HG02922.hp2 HG03209.hp1 HG03516.hp2 HG03579.hp1 NA18522.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0142 a0001c0001t0002g0145 a0001c0001t0002g0148 others(6): Show a0001c0001t0002g0142 a0001c0001t0002g0145 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0002t0002g0154 a0001c0002t0002g0155	9	165	0.0546	214	c.-15 others(235): Show c.-156-38164_-156-38163insATGTATATATGTACATATGTATAT ATGTATATATGTATATATATACATGTATACATATGTATATATGTATACAT ATGTATATATGTATATATGTATAAATATACATATGTATATATATGTATAT ATGTATACATATGTATATATACATATGTATATATATGTATATATGTATAC ATATGTATATATACATATGTATATATATGTATATATGCAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZFYVE1_chr14_72964451_73032106	73023251	T T	TTATATGT others(207): Show TTATATGTTTTATATATAATATATATTATATGTTTTATATATAATATATA TTATATATGTTTTATATATAATATATATTATATATGTTTTATATATAATA TATATTATATATGTTTTATATATAATATATATTATATATGTTTTATATAT AATATATATTATATATGTTTTATATATAATATATATTATATATGTTTTAT ATATAATATATATTA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0004 a0001c0013t0004	a0001c0013t0004g0093 a0001c0013t0004g0093	1	374	0.0027	214	c.483 others(229): Show c.483+774_483+775insTAATATATATTATATATAAAACATATATAA TATATATTATATATAAAACATATATAATATATATTATATATAAAACATAT ATAATATATATTATATATAAAACATATATAATATATATTATATATAAAAC ATATATAATATATATTATATATAAAACATATATAATATATATTATATATA AAACATATAATATATATTATATATAAAACATATA	ZFYVE1	ENSG00000165861.14	transcript	ENST00000556143.6	protein_coding	2/11			chr14	TogoVar
ZNF365_chr10_62369369_62407450	62369791	T T	TATATATG others(207): Show TATATATGTCCCATATCTATCTCATATATATGTCCCATATATATCTATCT CATATATATGTCCCATATATATCTATCTCATATATATGTCCCATATATCT ATCTCATATATATGTCCCATATATCTATCTCATATATATGTCCCATATAT ACATATCTCATATATATGTCCCATATATACATATCTCATATATATGTCCC ATATATACATATCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0070 a0001c0001t0014g0070	1	350	0.0029	214	c.-46 others(225): Show c.-4681_-4680insATATATGTCCCATATCTATCTCATATATATGTCC CATATATATCTATCTCATATATATGTCCCATATATATCTATCTCATATAT ATGTCCCATATATCTATCTCATATATATGTCCCATATATCTATCTCATAT ATATGTCCCATATATACATATCTCATATATATGTCCCATATATACATATC TCATATATATGTCCCATATATACATATCTC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		4577		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370987	C C	CACATATG others(207): Show CACATATGCTATATAGCATACGTGATATATATCATATATATCATATATGA TGTATAGCATGATATATATGCTATATATCACATGTGATATATAGCATATA TATCACATGTGATATATAGCATATATATCACATGTGATATATAGCATATG TGATATATATGATATATGTGATATATATCATATGTGATATATGTGATATA TATCACATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG02148.hp2 NA20129.hp1 HG01167.hp2 HG02148.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0157 a0001c0001t0002g0009 a0001c0001t0002g0157	3	350	0.0086	214	c.-34 others(225): Show c.-3485_-3484insACATATGCTATATAGCATACGTGATATATATCAT ATATATCATATATGATGTATAGCATGATATATATGCTATATATCACATGT GATATATAGCATATATATCACATGTGATATATAGCATATATATCACATGT GATATATAGCATATGTGATATATATGATATATGTGATATATATCATATGT GATATATGTGATATATATCACATATATATG	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3381		chr10	TogoVar
ZNF430_chr19_21015657_21065050	21019589	T T	TATATATA others(207): Show TATATATAAATATATATAAATATATAAATATATATATAAATATATATAAA TATATAAATATATATAAAAATATATATAAATATATAAATATATATATATA AATATATATAAATATATATAAATATATAAATATATATATATAAATATATA TAAATATATATAAATATATAAATATATATATATAAATATATAAATATATA AATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0104 a0001c0001t0007g0104	1	298	0.0034	214	c.-12 others(225): Show c.-1212_-1211insATATATAAATATATATAAATATATAAATATATAT ATAAATATATATAAATATATAAATATATATAAAAATATATATAAATATAT AAATATATATATATAAATATATATAAATATATATAAATATATAAATATAT ATATATAAATATATATAAATATATATAAATATATAAATATATATATATAA ATATATAAATATATAAATATATATATATAA	ZNF430	ENSG00000118620.13	transcript	ENST00000261560.10	protein_coding		1067		chr19	TogoVar
ZNF512B_chr20_63951704_63974930	63970825	C C	CCTTCCTT others(207): Show CCTTCCTTTTCTCTTTCCTTCTCTTCTCTTCCCTCCCTCCCTACCTCCCT TCCTTCTCTTCCTTCCCTTCCCTCCCTCCCTCCCTTCTTCCTTCCTTTCC TTCCTTCTTCCTTCCTTTTCTCTTTCCTTCTCTTCTCTTCCCTCCCTCCC TTCCTCCCTTCCTTCTCTTCCTTCCCTTCCCTCCCTCCCTCCCTTCTTCC TTCCTTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0150 a0001c0002t0005g0150	1	356	0.0028	214	c.-10 others(225): Show c.-1015_-1014insAAGGAAGGAAAGGAAGGAAGAAGGGAGGGAGGGA GGGAAGGGAAGGAAGAGAAGGAAGGGAGGAAGGGAGGGAGGGAAGAGAAG AGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAGGAAAGGAAGGAAGAAGGG AGGGAGGGAGGGAAGGGAAGGAAGAGAAGGAAGGGAGGTAGGGAGGGAGG GAAGAGAAGAGAAGGAAAGAGAAAAGGAAG	ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding		896		chr20	TogoVar
ZNF543_chr19_57315472_57335770	57319177	T T	TACATATA others(207): Show TACATATACATACATATACATACATATACATACATATACATACATATACA TACATATACATACATATACATACATATACATACATATACATACATATACA TACATATACATACATATATACATATACATACATATACATACATATATATA CATATACATACATATACATATACATACATATACATACATATATATACATA TATACATATACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	460	0.0022	214	c.-16 others(225): Show c.-1677_-1676insACATATACATACATATACATACATATACATACAT ATACATACATATACATACATATACATACATATACATACATATACATACAT ATACATACATATACATACATATACATACATATATACATATACATACATAT ACATACATATATATACATATACATACATATACATATACATACATATACAT ACATATATATACATATATACATATACATAC	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1294		chr19	TogoVar
ZNF543_chr19_57315472_57335770	57319265	T T	TACATATA others(207): Show TACATATACATACATATATATACATATATACATATACATACATACATATA CATACATATATATATATACATACATACATATACATACATATATATACATA TATATACATATACATACATATATATACATATATATACATATACATACATA TATACATATATACACATATACATACATATATATACATATATACACATATA CATACATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0145 a0003c0003t0005g0145	1	460	0.0022	214	c.-15 others(225): Show c.-1589_-1588insACATATACATACATATATATACATATATACATAT ACATACATACATATACATACATATATATATATACATACATACATATACAT ACATATATATACATATATATACATATACATACATATATATACATATATAT ACATATACATACATATATACATATATACACATATACATACATATATATAC ATATATACACATATACATACATATATATAC	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1206		chr19	TogoVar
ZNF543_chr19_57315472_57335770	57319459	C C	CATATATA others(207): Show CATATATACATATATATACACATACATACATATATATACATATATATACA CATACATATATATACATATATATACACATACATACATATATATACATATA TATACACATACATACATATATATACATATATACACATACATACATATATA TACATATATATACATATACATACATATATATACATATATATACATATACA TACATATATATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0011 a0002c0002t0002g0011	1	460	0.0022	214	c.-13 others(225): Show c.-1395_-1394insATATATACATATATATACACATACATACATATAT ATACATATATATACACATACATATATATACATATATATACACATACATAC ATATATATACATATATATACACATACATACATATATATACATATATACAC ATACATACATATATATACATATATATACATATACATACATATATATACAT ATATATACATATACATACATATATATACAT	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1012		chr19	TogoVar
ZNF543_chr19_57315472_57335770	57319459	C C	CATATATA others(207): Show CATATATATACATATATATACACATACATACATATATATACATATATATA CACATACATATATATACATATATATACACATACATACATATATATACATA TATATACACATACATACATATATATACATATATACACATACATACATATA TATACATATATATACATATACATACATATATATACATATATATACATATA CATACATATATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	460	0.0022	214	c.-13 others(225): Show c.-1395_-1394insATATATATACATATATATACACATACATACATAT ATATACATATATATACACATACATATATATACATATATATACACATACAT ACATATATATACATATATATACACATACATACATATATATACATATATAC ACATACATACATATATATACATATATATACATATACATACATATATATAC ATATATATACATATACATACATATATACAT	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1012		chr19	TogoVar
ZNF573_chr19_37733302_37784586	37751663	C C	CATGTATA others(207): Show CATGTATACTGTGTATATATACAGTATAGACAGCATGTATACTGTGTATA TATACAGTATAGACAGCATATATACTGTGTATAGTACATAGTACCGTATA TATACTGTATATAGTACATAGTACCGTATATATACTGTATATAGTACATA GTACCGTATATACTGTATATAGTACATAGTACCGTATATATACTGTATAT AGTACATAGTACCGT	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA21309.hp1 HG02080.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0068 a0001c0001t0001g0046 a0001c0001t0001g0068	2	350	0.0057	214	c.296 others(233): Show c.296-11470_296-11469insACGGTACTATGTACTATATACAGTAT ATATACGGTACTATGTACTATATACAGTATATACGGTACTATGTACTATA TACAGTATATATACGGTACTATGTACTATATACAGTATATATACGGTACT ATGTACTATACACAGTATATATGCTGTCTATACTGTATATATACACAGTA TACATGCTGTCTATACTGTATATATACACAGTATACAT	ZNF573	ENSG00000189144.15	transcript	ENST00000536220.7	protein_coding	4/4			chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56302522	C C	CTCCCTCT others(207): Show CTCCCTCTTCTTCCTCCCCGTTCCTCCCTCCCTCCCCCCTTCCTTTTCTT CCTCCCTCCCTCCCCCCTTCCTTTTCTTCCTCCCCCTTTTCTTCCTCTCC CTCTTCTTCCTCTCCCTCTTCCTCCCTCCCTCCTCCTCCCTTCCTTTTCT TCCCCCCCTCCCTGTTCTTTCCTTCCTCCTTCCCTCCTTCTCTCTCCTTC CTTCTCTTTCCTCCT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	362	0.0028	214	c.-12 others(235): Show c.-128+10760_-128+10761insAGGAGGAAAGAGAAGGAAGGAGAG AGAAGGAGGGAAGGAGGAAGGAAAGAACAGGGAGGGGGGGAAGAAAAGGA AGGGAGGAGGAGGGAGGGAGGAAGAGGGAGAGGAAGAAGAGGGAGAGGAA GAAAAGGGGGAGGAAGAAAAGGAAGGGGGGAGGGAGGGAGGAAGAAAAGG AAGGGGGGAGGGAGGGAGGAACGGGGAGGAAGAAGAGGGA	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ABCA8_chr17_68862289_68960392	68958591	A A	ATATAATT others(208): Show ATATAATTATATATAATATATAATATAATTATATATAATATATAATATAA TTATATATAATATATAATATAATTATATATAATATATAATATATAATATA ATTATATATATATATAATAATATAATATAATTATATAAAATATATAATAT ATTATATAATTATATAAAATATATAATATATTATATAATTATATATTATA TATATTATTTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	274	0.0037	215	c.-35 others(226): Show c.-3540_-3539insATATATAAATAATATATATAATATATAATTATAT AATATATTATATATTTTATATAATTATATAATATATTATATATTTTATAT AATTATATTATATTATTATATATATATATAATTATATTATATATTATATA TTATATATAATTATATTATATATTATATATAATTATATTATATATTATAT ATAATTATATTATATATTATATATAATTATA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		3200		chr17	TogoVar
ABR_chr17_998519_1184981	1062242	T T	TGTGAACT others(208): Show TGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTATGTGAAC TGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGC TATGCATGTTGCTCTAGACACTGTTGTTACGTGAACTGAGGGCTATGCAT GTTCCTCTAGACGCTGCTGTTATGTGAACTGAGGGCTATGCATGTTCCTC TAGATGCTGTTGTTAC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19081.hp1 NA19005.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0015 a0001c0001t0009 a0001c0001t0015	a0001c0001t0009g0022 a0001c0001t0015g0262 a0001c0001t0009g0022 a0001c0001t0015g0262	2	337	0.0059	215	c.118 others(234): Show c.1183-3376_1183-3375insGTAACAACAGCATCTAGAGGAACATG CATAGCCCTCAGTTCACATAACAGCAGCGTCTAGAGGAACATGCATAGCC CTCAGTTCACGTAACAACAGTGTCTAGAGCAACATGCATAGCCCTCAGTT CACATAACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAA CAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCAC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ADGRD1_chr12_130948907_131146469	131129451	G G	GCCCGCCC others(208): Show GCCCGCCCTGCTGTCTGAGTGTGAGTGACAGGCCCGCCCTGCTGTCTGGG TGTGAGTGACAGCCCCCCCCTCCTGTCTGGGTGTGAGTGACAGGCCGGCC CTGCTGTCTGGGTGTGAGTGACAGGCCCGCCCTGCTGTCTGGGTGTGAGT AACAGCCCCGCCCTGCTCTCTGGGTGTGAATGACAGCCCCGCCCTGCTCT GGGTGTGAGTGACAGC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02257.hp1 HG02723.hp2 others(2): Show HG01934.hp2 HG02257.hp1 HG02723.hp2 HG03209.hp2 HG03486.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0003 a0001c0025 a0002c0034 others(2): Show a0001c0003 a0001c0025 a0002c0034 a0003c0030 a0008c0026	a0001c0003t0036 a0001c0025t0021 a0002c0034t0030 others(2): Show a0001c0003t0036 a0001c0025t0021 a0002c0034t0030 a0003c0030t0032 a0008c0026t0013	a0001c0003t0036g0209 a0001c0025t0021g0119 a0002c0034t0030g0231 others(2): Show a0001c0003t0036g0209 a0001c0025t0021g0119 a0002c0034t0030g0231 a0003c0030t0032g0159 a0008c0026t0013g0238	5	242	0.0207	215	c.217 others(234): Show c.2176-2258_2176-2257insAGTGTGAGTGACAGGCCCGCCCTGCT GTCTGGGTGTGAGTGACAGCCCCCCCCTCCTGTCTGGGTGTGAGTGACAG GCCGGCCCTGCTGTCTGGGTGTGAGTGACAGGCCCGCCCTGCTGTCTGGG TGTGAGTAACAGCCCCGCCCTGCTCTCTGGGTGTGAATGACAGCCCCGCC CTGCTCTGGGTGTGAGTGACAGCCCCGCCCTGCTGTCTG	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRD1_chr12_130948907_131146469	131129451	G G	GCCCGCCC others(208): Show GCCCGCCCTGCTGTCTGAGTGTGAGTGACAGGCCCGCCCTGCTGTCTGGG TGTGAGTGACAGCCCCGCCCTCCTGTCTGGGTGTGAGTGACAGGCCGGCC CTGCTGTCTGGGTGTGAGTGACAGGCCCGCCCTGCTGTCTGGGTGTGAGT AACAGCCCCGCCCTGCTCTCTGGGTGTGAATGACAGCCCCGCCCTGCTCT GGGTGTGAGTGACAGC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01934.hp1 HG02109.hp2 others(10): Show HG01243.hp1 HG01934.hp1 HG02109.hp2 HG02257.hp2 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02717.hp1 HG02922.hp2 HG02965.hp1 HG03139.hp1 HG03139.hp2 HG03486.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0010	a0001c0001 a0001c0003 a0001c0010 others(7): Show a0001c0001 a0001c0003 a0001c0010 a0001c0048 a0002c0012 a0002c0033 a0003c0018 a0003c0046 a0007c0039 a0010c0035	a0001c0001t0002 a0001c0003t0029 a0001c0010t0007 others(7): Show a0001c0001t0002 a0001c0003t0029 a0001c0010t0007 a0001c0048t0017 a0002c0012t0017 a0002c0033t0038 a0003c0018t0020 a0003c0046t0007 a0007c0039t0042 a0010c0035t0026	a0001c0001t0002g0116 a0001c0003t0029g0214 a0001c0010t0007g0160 others(10): Show a0001c0001t0002g0116 a0001c0003t0029g0214 a0001c0010t0007g0160 a0001c0010t0007g0213 a0001c0048t0017g0221 a0002c0012t0017g0017 a0002c0012t0017g0158 a0002c0033t0038g0090 a0003c0018t0020g0123 a0003c0018t0020g0124 a0003c0046t0007g0126 a0007c0039t0042g0046 a0010c0035t0026g0043	13	242	0.0537	215	c.217 others(234): Show c.2176-2258_2176-2257insAGTGTGAGTGACAGGCCCGCCCTGCT GTCTGGGTGTGAGTGACAGCCCCGCCCTCCTGTCTGGGTGTGAGTGACAG GCCGGCCCTGCTGTCTGGGTGTGAGTGACAGGCCCGCCCTGCTGTCTGGG TGTGAGTAACAGCCCCGCCCTGCTCTCTGGGTGTGAATGACAGCCCCGCC CTGCTCTGGGTGTGAGTGACAGCCCCGCCCTGCTGTCTG	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRD1_chr12_130948907_131146469	131129451	G G	GCCCGCCC others(208): Show GCCCGCCCTGCTGTCTGAGTGTGAGTGACAGGCCCGCCCTGCTGTCTGGG TGTGAGTGACAGCCCCGCCCTCCTGTCTGGGTGTGAGTGACAGGCCGGCC CTGCTGTCTGGGTGTGAGTTACAGGCCCGCCCTGCTGTCTGGGTGTGAGT AACAGCCCCGCCCTGCTCTCTGGGTGTGAATGACAGCCCCGCCCTGCTCT GGGTGTGAGTGACAGC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0042 a0002c0042	a0002c0042t0022 a0002c0042t0022	a0002c0042t0022g0096 a0002c0042t0022g0096	1	242	0.0041	215	c.217 others(234): Show c.2176-2258_2176-2257insAGTGTGAGTGACAGGCCCGCCCTGCT GTCTGGGTGTGAGTGACAGCCCCGCCCTCCTGTCTGGGTGTGAGTGACAG GCCGGCCCTGCTGTCTGGGTGTGAGTTACAGGCCCGCCCTGCTGTCTGGG TGTGAGTAACAGCCCCGCCCTGCTCTCTGGGTGTGAATGACAGCCCCGCC CTGCTCTGGGTGTGAGTGACAGCCCCGCCCTGCTGTCTG	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADRA1D_chr20_4215630_4254287	4224714	T T	TGTTCCAT others(208): Show TGTTCCATCCTGGATAGAGGCTGCAGGTGCCTGTGAGACCAAGCGGGCCA GGGGTGTTCCATCCTGGATAGAGGCTGCAGGTGCCTGTGAGACCAAGCGG GCCAGGGGTGTTCCATCCTGGATAGAGGCTGCAGGTGCCTGTGAGACCAA GCGGGCCAGGGGTGTTCCATCCTGGATAGAGGCTGCAGGTGCCTGTGAGA CCAAGCGGGCCAGGGG	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18612.hp2 NA18747.hp1 others(1): Show HG02965.hp2 NA18612.hp2 NA18747.hp1 NA18949.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0006 a0001c0001 a0002c0002 a0003c0006	a0001c0001t0001 a0002c0002t0001 a0003c0006t0001 a0001c0001t0001 a0002c0002t0001 a0003c0006t0001	a0001c0001t0001g0188 a0001c0001t0001g0236 a0002c0002t0001g0269 others(1): Show a0001c0001t0001g0188 a0001c0001t0001g0236 a0002c0002t0001g0269 a0003c0006t0001g0035	4	452	0.0089	215	c.111 others(234): Show c.1112-2585_1112-2584insCCCCTGGCCCGCTTGGTCTCACAGGC ACCTGCAGCCTCTATCCAGGATGGAACACCCCTGGCCCGCTTGGTCTCAC AGGCACCTGCAGCCTCTATCCAGGATGGAACACCCCTGGCCCGCTTGGTC TCACAGGCACCTGCAGCCTCTATCCAGGATGGAACACCCCTGGCCCGCTT GGTCTCACAGGCACCTGCAGCCTCTATCCAGGATGGAAC	ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1			chr20	TogoVar
ALDH16A1_chr19_49448225_49476050	49461540	G G	GGAGTCTG others(208): Show GGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGAGCTGGGACCTGGACTCC TGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGAGTCTGAGGGAG GAGGGGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGACC TGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGACCTGGACTCCTGGGTC TGAGGGAGGAGGGGCT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02258.hp1 HG03130.hp2 others(1): Show HG01346.hp1 HG02258.hp1 HG03130.hp2 HG03225.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0002 a0002c0010t0001 a0002c0010t0002	a0002c0010t0001g0225 a0002c0010t0002g0226 a0002c0010t0002g0227 others(1): Show a0002c0010t0001g0225 a0002c0010t0002g0226 a0002c0010t0002g0227 a0002c0010t0002g0228	4	342	0.0117	215	c.578 others(228): Show c.578-78_578-77insAGTCTGGACTCCTGGGTCTGAGGGAGGAGGAG CTGGGACCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACT CCTGAGTCTGAGGGAGGAGGGGCTGGGACCTGGACTCCTGGGTCTGAGGG AGGAGGGGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGA CCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTG	ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
AMPH_chr7_38378704_38636373	38570972	T T	TATATATT others(208): Show TATATATTTATATATATAGAATATATATATAGAATATATATTTATATATA TAGAATATATATATAGAATATATATTTATATATATAGAATATATATATAG AATATATATTTATATATATAGAATATATATATAGAATATATATTTATATA TATAGAATATATATATAGAATATATATTTATATATATAGAATATATATAT AGAATATATATATAGA	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	288	0.0035	215	c.70- others(232): Show c.70-35962_70-35961insTCTATATATATATTCTATATATATATTC TATATATATAAATATATATTCTATATATATATTCTATATATATAAATATA TATTCTATATATATATTCTATATATATAAATATATATTCTATATATATAT TCTATATATATAAATATATATTCTATATATATATTCTATATATATAAATA TATATTCTATATATATATTCTATATATATAAATATAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
ANO7_chr2_241183677_241230976	241187727	C C	CAGGAGGA others(208): Show CAGGAGGAGGGGAGTGGGGAGAAAGGAGGAGAAGGAAGAGGAGAGGGAGA AGTGGGGGGGAGGGGGAGAAACAGGAGGAGGGGAGTGGGGAGAAAGGAGA AGGAAGAGGAGAGGGAGAAGTGGGGGGAGGGGGAGAAACGATAGGAGGAG GGGGAGTGGGGAGAAAGAGGAGGAGGAAGAGGAGAGGGAGAAGTGGGGGG GAGGGGGAGAAACGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0139 a0001c0003t0015g0139	1	396	0.0025	215	c.-10 others(226): Show c.-1047_-1046insAGGAGGAGGGGAGTGGGGAGAAAGGAGGAGAAGG AAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGAGAAACAGGAGGAGGGGAG TGGGGAGAAAGGAGAAGGAAGAGGAGAGGGAGAAGTGGGGGGAGGGGGAG AAACGATAGGAGGAGGGGGAGTGGGGAGAAAGAGGAGGAGGAAGAGGAGA GGGAGAAGTGGGGGGGAGGGGGAGAAACGAT	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding		949		chr2	TogoVar
APOA4_chr11_116815700_116828304	116818426	A A	ATATATAT others(208): Show ATATATATATGAATATATATGAATATATATATGAATATATATATGAATAT ATATGAATATATATATGAATATATATGAATATATATATGAATATATATGA ATATATATATGAATTATATATGAATATATATATGAATATATATATGAATA TATATGAATATATATATGAATTATATATGAATATATATATGAATATATAT GAATATATATATGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 NA18983.hp2 NA19076.hp2 HG00639.hp1 NA18983.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0007 a0001c0005t0001g0006 a0001c0001t0001g0007 a0001c0005t0001g0006	3	462	0.0065	215	c.24 others(226): Show c.2440_*2441insATTCATATATATATTCATATATATTCATATATAT ATTCATATATAATTCATATATATATTCATATATATTCATATATATATTCA TATATATATTCATATATAATTCATATATATATTCATATATATTCATATAT ATATTCATATATATTCATATATATATTCATATATATTCATATATATATTC ATATATATATTCATATATATTCATATATATA	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2273		chr11	TogoVar
APOA4_chr11_116815700_116828304	116818483	T T	TATATATG others(208): Show TATATATGAATATATATATGAATATATATGAATATATATATGAATTATAT ATGAATATATATATGAATATATATATGAATATATATGAATATATATATGA ATTATATATGAATATATATATGAATATATATGAATATATATATGAATTAT ATATGAATATATATATGAATATATATATGAATATATATGAATATATATAT GAATTATATATGAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18977.hp2 NA18978.hp2 others(3): Show NA18971.hp2 NA18977.hp2 NA18978.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0006 a0001c0005t0001g0006	6	462	0.0130	215	c.23 others(226): Show c.2383_*2384insTATTCATATATAATTCATATATATATTCATATAT ATTCATATATATATTCATATATATATTCATATATAATTCATATATATATT CATATATATTCATATATATATTCATATATAATTCATATATATATTCATAT ATATTCATATATATATTCATATATATATTCATATATAATTCATATATATA TTCATATATATTCATATATATATTCATATAT	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2216		chr11	TogoVar
ARFGAP1_chr20_63267813_63294790	63294172	C C	CGGGGGGA others(208): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGAGGGGAGTGCG GGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGAAGGGGGGAGTGC GGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTG CAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGC CGAGGAGCGGGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	342	0.0029	215	c.62 others(226): Show c.6299_*6300insGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGG GGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGGG GGAAGGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTGCG GGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGG GGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4383		chr20	TogoVar
ARFGAP1_chr20_63267813_63294790	63294172	C C	CGGGGGGA others(208): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGAGGGGGAGTGC AGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGC GGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTG CAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGC CGAGGAGCGGGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0001 a0006c0005t0001g0001	1	342	0.0029	215	c.62 others(226): Show c.6299_*6300insGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGG GGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGG GGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTGCG GGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGG GGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4383		chr20	TogoVar
ARFGAP1_chr20_63267813_63294790	63294172	C C	CGGGGGGA others(208): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCG GGGGGAGGGGGAGTGTGGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTG CAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGC CGAGGAGCGGGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	342	0.0029	215	c.62 others(226): Show c.6299_*6300insGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCG GGGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGG GGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGGAGGGGAGTGCG GGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGG GGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4383		chr20	TogoVar
ARHGAP39_chr8_144524179_144690846	144687797	C C	CCGTGACC others(208): Show CCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACACACT GGCGGCGACCATTTCCCACCCCCGTGACCACGCACTGGCGGCGACCATTT CCCACCCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCCGTGAC CACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTG AGCACTTCCCACCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02293.hp1 NA18984.hp2 others(1): Show HG02129.hp2 HG02293.hp1 NA18984.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0001g0056 others(1): Show a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0002t0001g0137	4	246	0.0163	215	c.-21 others(226): Show c.-2194_-2193insAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTC ACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGT GCTCGCCGCCAGTGCGTGGTCACGGGGGTGGGAAATGGTCGCCGCCAGTG CGTGGTCACGGGGGTGGGAAATGGTCGCCGCCAGTGTGTGGTCACGGGGT GGGAAGTGCTCACTGCTAGTGTGTGGTCACG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1952		chr8	TogoVar
ARHGDIG_chr16_275591_288010	285902	T T	TCCCAACC others(208): Show TCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACACCAACCCCGCGG TTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCAGTTCT CCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTT CTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACC CCGCGGTTCTCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	442	0.0023	215	c.30 others(226): Show c.3088_*3089insCCCAACCCCAACCCCAACCCCAACCCCAACCCCA ACACCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCC CAACCCCGCAGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAAC CCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCA ACCCCAACCCCAACCCCGCGGTTCTCCCAAC	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding		2893		chr16	TogoVar
ARHGDIG_chr16_275591_288010	285983	T T	TCCCAACC others(208): Show TCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCC CGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTC CCAACCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCA ACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCAACC CCGCGGTTCTCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	442	0.0023	215	c.31 others(226): Show c.3169_*3170insCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAA CCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCC AACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCG GTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCA ACCCCAACCCCAACCCCGCGGTTCTCCCAAC	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding		2974		chr16	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(208): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCC TCCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTCCCCCCTC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCCTCCCCCTCCCTCCC CCTCCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	264	0.0038	215	c.102 others(232): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCCTCCCCC TCCCTCCCCCTCCCCCCTCCCCCTCTCCCCCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(208): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCC TCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCC CCCCTCCCCCTCCCTCCCCCGCCCCTCCCCCTCCCCCTCTCCCCCTCCCC CTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	264	0.0038	215	c.102 others(232): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCC TCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCGCCCCTCCC CCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ATP10A_chr15_25673712_25868327	25757980	C C	CCGACCAC others(208): Show CCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCA TTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCT CATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACC CTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGC TCCACCCTAACTCATT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0053 a0053	a0053c0031 a0053c0031	a0053c0031t0001 a0053c0031t0001	a0053c0031t0001g0108 a0053c0031t0001g0108	1	300	0.0033	215	c.655 others(234): Show c.655-21840_655-21839insAATGAGTTAGGGTGGAGCAGGTGGTC GGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGC AGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGG TGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGGTCG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
AXIN1_chr16_282440_357723	285902	T T	TCCCAACC others(208): Show TCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACACCAACCCCGCGG TTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCAGTTCT CCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTT CTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACC CCGCGGTTCTCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0008 a0001c0016t0008	a0001c0016t0008g0041 a0001c0016t0008g0041	1	378	0.0027	215	c.22 others(226): Show c.2219_*2220insGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGG GAGAACCGCGGGGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTT GGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGAGAACTGCGGGGTTGGGA GAACCGCGGGGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGTGTTGG GGTTGGGGTTGGGGTTGGGGTTGGGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1537		chr16	TogoVar
AXIN1_chr16_282440_357723	285983	T T	TCCCAACC others(208): Show TCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCC CGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCG GTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCA ACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCC CAACCCCAACCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0007 a0003c0008t0007	a0003c0008t0007g0272 a0003c0008t0007g0272	1	378	0.0027	215	c.21 others(226): Show c.2138_*2139insGTTGGGGTTGGGGTTGGGGTTGGGAGAACCGCGG GGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGGGGT TGGGAGAACCGCGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGG AGAACCGCGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTG GGGTTGGGAGAACCGCGGGGTTGGGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1456		chr16	TogoVar
AXIN1_chr16_282440_357723	285983	T T	TCCCAACC others(208): Show TCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCC CGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTC CCAACCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCA ACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCAACC CCGCGGTTCTCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0214 a0001c0003t0003g0214	1	378	0.0027	215	c.21 others(226): Show c.2138_*2139insGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGG GGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGGGAGAACCGC GGGGTTGGGGTTGGGGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGG GTTGGGAGAACCGCGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTG GGGTTGGGAGAACCGCGGGGTTGGGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1456		chr16	TogoVar
B3GNTL1_chr17_82937149_83056770	83032173	A A	ACTCGGGA others(208): Show ACTCGGGAGCTGAACAACGGGTCAGACCAGGCCAGGCCTCCGACGCAGAC CGAACTCGGGAGCTGAACAACCAGGTCAGACCAGGCCAGGCCTCCGACCC AGACCGAGCTCCGGAGCTGAACAACCAGGTCAGACCAGGCCAGGCCTCTG ACGCAGACCGAACTCGGGAGCTGAACAACCAGGTCAGACCAGGCCAGACC TCCGACCCAGACCGAG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01261.hp1 others(9): Show HG01167.hp2 HG01169.hp1 HG01261.hp1 HG02055.hp1 HG02559.hp1 HG02572.hp2 HG02886.hp1 HG02896.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0013 others(1): Show a0001c0001 a0001c0011 a0001c0013 a0001c0014	a0001c0001t0011 a0001c0001t0012 a0001c0011t0001 others(5): Show a0001c0001t0011 a0001c0001t0012 a0001c0011t0001 a0001c0011t0010 a0001c0011t0017 a0001c0013t0012 a0001c0014t0001 a0001c0014t0002	a0001c0001t0011g0067 a0001c0001t0012g0148 a0001c0011t0001g0144 others(8): Show a0001c0001t0011g0067 a0001c0001t0012g0148 a0001c0011t0001g0144 a0001c0011t0010g0146 a0001c0011t0010g0147 a0001c0011t0017g0145 a0001c0013t0012g0001 a0001c0013t0012g0013 a0001c0013t0012g0014 a0001c0014t0001g0012 a0001c0014t0002g0011	12	266	0.0451	215	c.297 others(232): Show c.297+2861_297+2862insCTCGGTCTGGGTCGGAGGTCTGGCCTGG TCTGACCTGGTTGTTCAGCTCCCGAGTTCGGTCTGCGTCAGAGGCCTGGC CTGGTCTGACCTGGTTGTTCAGCTCCGGAGCTCGGTCTGGGTCGGAGGCC TGGCCTGGTCTGACCTGGTTGTTCAGCTCCCGAGTTCGGTCTGCGTCGGA GGCCTGGCCTGGTCTGACCCGTTGTTCAGCTCCCGAG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(208): Show GGGAGGGAGAGAGGGGAGGGGGGGAGGGGGAGGGAGGGGAGAGGGGGGGA GGGGGGAGGGGGAGGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGGA GGGGGGAGGGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGG GGAGGGGGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAG GTGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0021 a0001c0005t0021	a0001c0005t0021g0084 a0001c0005t0021g0084	1	298	0.0034	215	c.51+ others(228): Show c.51+438_51+439insTCCCCAGTCCATCCACCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCCCCTCCCCCCTCCCCCT CCCCCTCCCCCCTCCCCCCTCCCCCCCTCCCCCCTCCCCCCCTCCCCCCT CCCCCCTCCCCCCTCCCCCCCTCCCCCTCCCCCCTCCCCCCCTCTCCCCT CCCTCCCCCTCCCCCCCTCCCCTCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(208): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGAGAGGGGGGAGGGGGAGGGA GGGGGAGGGGGGAGGGGGAGGGGGAAGGAGAGGGGGATGGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGAGGGGGAGAGGGGGGAGGG AGAGGGGGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAG GGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0125 a0001c0001t0004g0125	1	298	0.0034	215	c.51+ others(228): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCATCC CCCTCTCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCC CTCTCCCTCCCTCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BFSP2_chr3_133395056_133480208	133425980	G G	GAGGGGGA others(208): Show GAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGAAGGG GAGGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGG AGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAG GGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGGAGGGGAGGG GAGGGGAAGGCAGGGC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	276	0.0036	215	c.490 others(234): Show c.490-21336_490-21335insGGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGG AGGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAA GGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGG GGAGGGGAGGGGGAGGGGAGGGGAGGGGAAGGCAGGGCA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BTAF1_chr10_91918770_92036437	92012179	C C	CCCTCTCC others(208): Show CCCTCTCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCTCCTCT CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0245	1	330	0.0030	215	c.431 others(232): Show c.4311+766_4311+767insTCTCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	92012179	C C	CCCTCTCC others(208): Show CCCTCTCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCTCCTCT CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01099.hp1 HG01123.hp1 others(4): Show HG01069.hp1 HG01099.hp1 HG01123.hp1 HG01169.hp2 HG01255.hp1 NA18969.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0251 a0001c0001t0002g0252 others(4): Show a0001c0001t0002g0248 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0280 a0001c0001t0002g0284 a0001c0001t0002g0289 a0001c0001t0002g0299	7	330	0.0212	215	c.431 others(232): Show c.4311+766_4311+767insTCTCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	92012181	C C	CTCTCCTC others(208): Show CTCTCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCTCCTCTCC TCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCC CCTTCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0186 a0002c0005t0003g0186	1	330	0.0030	215	c.431 others(232): Show c.4311+766_4311+767insTCTCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCC TCCCCTCCTCCCCTCCCCTCCCCTTCTCCCCTCCCCT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37			chr10	TogoVar
CABCOCO1_chr10_61657929_61771766	61680478	A A	ATATATAA others(208): Show ATATATAACATATTATATGTTATATTATGTTATATATAACATATTATATG TTATATTATGTTATATATAACATATTATATGTTATATTATGTTATATATA ACATATTATATGTTATATTATGTTATATATAACATATTATATGTTATATT ATGTTATATATAACATATTATATGTTATATTATGTTATATATAACATATT ATATGTTATATTATGT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03942.hp1 NA19085.hp2 HG03688.hp2 HG03942.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0354 a0001c0001t0004g0364 a0001c0001t0004g0366 a0001c0001t0004g0354 a0001c0001t0004g0364 a0001c0001t0004g0366	3	374	0.0080	215	c.165 others(230): Show c.165-659_165-658insACATATTATATGTTATATTATGTTATATAT AACATATTATATGTTATATTATGTTATATATAACATATTATATGTTATAT TATGTTATATATAACATATTATATGTTATATTATGTTATATATAACATAT TATATGTTATATTATGTTATATATAACATATTATATGTTATATTATGTTA TATATAACATATTATATGTTATATTATGTTATATA	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTC others(208): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTGTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCT TTCTTTCTTTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTC TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0055 a0001c0055	a0001c0055t0004 a0001c0055t0004	a0001c0055t0004g0083 a0001c0055t0004g0083	1	218	0.0046	215	c.573 others(234): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAGAAAGAA AGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAACAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1C_chr12_2047987_2702950	2105605	T T	TGGGCGTC others(208): Show TGGGCGTCCTGAAGCCACTGGGCGCCCACCCCGGGGAGGGTTTCCACCTC AGCTGGGGTGTCCTGAAGCCACTGGGCGCCCACCCCGGGGAGGGTTTCCA CCTCAGCTGGGCGTCCTGAAGCCACTGGGCGCCCACCCCGGGGAGGGTTT CCACCTCAGCTGGGGTGTCCTGAAGCCACTGGGCGCCCACCCCGGGGAGG GTTTCCACCTCAGCTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0101 a0001c0001t0017g0101	1	104	0.0096	215	c.50- others(230): Show c.50-9598_50-9597insCGCCCACCCCGGGGAGGGTTTCCACCTCAG CTGGGGTGTCCTGAAGCCACTGGGCGCCCACCCCGGGGAGGGTTTCCACC TCAGCTGGGCGTCCTGAAGCCACTGGGCGCCCACCCCGGGGAGGGTTTCC ACCTCAGCTGGGGTGTCCTGAAGCCACTGGGCGCCCACCCCGGGGAGGGT TTCCACCTCAGCTGGGGCGTCCTGAAGCCACTGGG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CAPN15_chr16_522712_559636	544797	T T	TCTCCCCC others(208): Show TCTCCCCCACGTCGCCGTCTCCCCCACGTCACCTCCCCCACGTCGTCGCC TCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTC CCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGT CGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTC GCCTCCCCCACGTCGC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	410	0.0024	215	c.-22 others(232): Show c.-22-2005_-22-2004insGTCTCCCCCACGTCACCTCCCCCACGTC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGT CGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCC CCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCAC GTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar

Search by Variant

Search

Search Results