Joint Open Genome and Omics Platform (JoGo)

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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
WDPCP_chr2_63114559_63593477	63575479	G G	GTGTATGC others(205): Show GTGTATGCACTGTATATACAGTATATACAGTGTATGCACTGTATATACAG TATATACAGTGTATGCACTGTATATACAGTATATACAGTGTATGCACTGT ATATACAGTATATACAGTGTATGCACTGTATATACAGTATATACAGTGTA TGCACTGTATATACAGTATATACAGTGTATGCACTGTATATACAGTATAT ACAGTGTATGCAC	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18972.hp2 HG02071.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0030 a0001c0001t0005g0182 a0001c0001t0001g0030 a0001c0001t0005g0182	2	216	0.0093	212	c.75+ others(229): Show c.75+12717_75+12718insGTGCATACACTGTATATACTGTATATAC AGTGCATACACTGTATATACTGTATATACAGTGCATACACTGTATATACT GTATATACAGTGCATACACTGTATATACTGTATATACAGTGCATACACTG TATATACTGTATATACAGTGCATACACTGTATATACTGTATATACAGTGC ATACACTGTATATACTGTATATACAGTGCATACA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
WDR64_chr1_241647281_241807777	241674896	T T	TCCTTCTT others(205): Show TCCTTCTTTCCTCCCTTTCTCCCTCCCTCTCTTCCTTCCTTTCTTCTTCC TTCCCTCCCTCCTTCCTTCTTTCCTTCCTTTTCTCCCTCCCTCCTTCCTG CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCGCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCTTCCTT CCTCCCTCCCTCC	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0031	1	326	0.0031	212	c.483 others(227): Show c.483+149_483+150insCCTTCTTTCCTCCCTTTCTCCCTCCCTCTC TTCCTTCCTTTCTTCTTCCTTCCCTCCCTCCTTCCTTCTTTCCTTCCTTT TCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC GCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCTTTCCTT CCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27			chr1	TogoVar
XRCC2_chr7_152639776_152681141	152674705	T T	TATATATA others(205): Show TATATATAAAAATATATTTATATAATATATTTTTAAATATATATTATATA TAATATATTTTTAAATATATATTATATATAATATATATTTAAAAATATAT TATATAAATATATTTTAAAATATGTATTATATATAAATATATTTTTAAAT ATATATTATATATAAATATATTTTTAAATATATATATATATAATATATTT TTAAATATATTTA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0337 a0001c0001t0005g0337	1	394	0.0025	212	c.39+ others(227): Show c.39+1335_39+1336insTAAATATATTTAAAAATATATTATATATAT ATATATTTAAAAATATATTTATATATAATATATATTTAAAAATATATTTA TATATAATACATATTTTAAAATATATTTATATAATATATTTTTAAATATA TATTATATATAATATATATTTAAAAATATATTATATATAATATATATTTA AAAATATATTATATAAATATATTTTTATATAT	XRCC2	ENSG00000196584.4	transcript	ENST00000359321.2	protein_coding	1/2			chr7	TogoVar
YBEY_chr21_46281342_46302751	46293592	G G	GCAAGTTA others(205): Show GCAAGTTAAACTCTAGATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGG ACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCG CGGTTAGCCTGACCCGTGCCCCGGACTCAGTGGAGTCAGCCACGCAAGTT AAACTCTAGATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGAGTCAGCCACA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0050 a0001c0001t0007g0050	1	404	0.0025	212	c.339 others(229): Show c.339+2137_339+2138insAACTCTAGATTCCTCCCGTGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGACTCAGTGGAGT CAGCCACGCAAGTTAAACTCTAGATTCCTCCCGTGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGAGTCAGCCACACAAGTTA	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293757	T T	TTCCTCCC others(205): Show TTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCC ACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCCGGACTCAGTGGAGTCAGCCAC GCAAGTTAAACTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	404	0.0025	212	c.339 others(229): Show c.339+2296_339+2297insCCTCCCGTGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCG GACTCAGTGGAGTCAGCCACGCAAGTTAAACTCT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZBTB43_chr9_126800040_126843210	126814265	G G	GATTTTTA others(205): Show GATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTT ACATCTGTAAAATTTTTACAGATGTAAATTTACATCTGTAAAATTTTTAC AGATGTAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGT AAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAAT TTACATCTGTAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0249 a0001c0001t0005g0249	1	388	0.0026	212	c.-24 others(229): Show c.-24+5412_-24+5413insTTTTACAGATGTAAATTTACATCTGTAA AATTTTTACAGATGTAAATTTACATCTGTAAAATTTTTACAGATGAAATT TACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTAC AGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTA AAATTTTTACAGATGAAATTTACATCTGTAAAAT	ZBTB43	ENSG00000169155.10	transcript	ENST00000373464.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZDHHC20_chr13_21367571_21464303	21377234	A A	ACTCTGCC others(205): Show ACTCTGCCCTGCGTGACCTCCACCCCTAGTGCCTGCGATCTGACTCTGCC CGACGTGACCTCCACCCCTAGTGCCTGCGATCTGACTCTGCCCTGCGTGA CCTCCACCCCTAGTGCCTGCGATCTGACTCTGCCCGACGTGACCTCCACC CCTAGTGCCTGCGATCTGACTCTGCCCTGCGTGACCTCCACCCCTAGTGC CTGCGATCTGACT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	302	0.0033	212	c.41 others(227): Show c.41-580_*41-579insAGTCAGATCGCAGGCACTAGGGGTGGAGGT CACGCAGGGCAGAGTCAGATCGCAGGCACTAGGGGTGGAGGTCACGTCGG GCAGAGTCAGATCGCAGGCACTAGGGGTGGAGGTCACGCAGGGCAGAGTC AGATCGCAGGCACTAGGGGTGGAGGTCACGTCGGGCAGAGTCAGATCGCA GGCACTAGGGGTGGAGGTCACGCAGGGCAGAG	ZDHHC20	ENSG00000180776.17	transcript	ENST00000400590.8	protein_coding	12/12			chr13	TogoVar
ZNF512B_chr20_63951704_63974930	63965803	C C	CCCGACCT others(205): Show CCCGACCTGGGACGAGCCCCCATACCTTTTCTTACCAGTGTTCCCTGACC TGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCCCGACCTGGGACG AGCCCCCATACCTTTTCTCACCACTGTTCCCCGACCTGGGACGAGCCCCC ATACCTTTTCTTACCAGTGTTCCCTGACCTGGGACGAGCCCCCATACCTT TTCTTACCACTGT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0004 a0006c0015t0004	a0006c0015t0004g0143 a0006c0015t0004g0143	1	356	0.0028	212	c.103 others(229): Show c.1034+337_1034+338insACAGTGGTAAGAAAAGGTATGGGGGCTC GTCCCAGGTCAGGGAACACTGGTAAGAAAAGGTATGGGGGCTCGTCCCAG GTCGGGGAACAGTGGTGAGAAAAGGTATGGGGGCTCGTCCCAGGTCGGGG AACAGTGGTGAGAAAAGGTATGGGGGCTCGTCCCAGGTCAGGGAACACTG GTAAGAAAAGGTATGGGGGCTCGTCCCAGGTCGG	ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding	5/16			chr20	TogoVar
ZNF543_chr19_57315472_57335770	57319459	C C	CATATATA others(205): Show CATATATATACATATATATACACATACATACATATATATACATATATATA CACATACATATATATACATATATATACACACATACATATATATACATATA TATACACATACATACATATATATACATATATACATATACATACATATATA TACATATATACATATACATACATATATATACATATATATACATATACATA CATATATATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG04204.hp2 HG03927.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	2	460	0.0044	212	c.-13 others(223): Show c.-1395_-1394insATATATATACATATATATACACATACATACATAT ATATACATATATATACACATACATATATATACATATATATACACACATAC ATATATATACATATATATACACATACATACATATATATACATATATACAT ATACATACATATATATACATATATACATATACATACATATATATACATAT ATATACATATACATACATATATATACAT	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1012		chr19	TogoVar
ACER3_chr11_76855918_77031797	77005980	T T	TAATATAC others(206): Show TAATATACATATATATATATTATATATATACATATATATATATTATATAT ATACATATATATATTATATATATATACATATATATATTATATATATATAC ATATATATATTATATATATATACATATATATATTATATATATATACATAT ATATATTATATATATATACATATATATATTATATATATATACATATATAT ATTATATATATATA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	346	0.0029	213	c.497 others(230): Show c.497+7160_497+7161insATATACATATATATATATTATATATATA CATATATATATATTATATATATACATATATATATTATATATATATACATA TATATATTATATATATATACATATATATATTATATATATATACATATATA TATTATATATATATACATATATATATTATATATATATACATATATATATT ATATATATATACATATATATATTATATATATATAA	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACTRT3_chr3_169761921_169774561	169771338	A A	AATTATGT others(206): Show AATTATGTTTATATATCATAAATATAAAAAATTATGTTTATATATCATAA ATATAAAAAATTATGTTTATATATCATAAATATAAAAAATTATGTTTATA TATCATAAATATATAAAAATTTATGTTTATATATAATAAATATATAAAAA TTTATGTTTATATATAATAAATATATAAAAATTTATGTTTATATATAATA AATATATAAAAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	418	0.0024	213	c.-18 others(224): Show c.-1819_-1818insAATTTTTATATATTTATTATATATAAACATAAAT TTTTATATATTTATTATATATAAACATAAATTTTTATATATTTATTATAT ATAAACATAAATTTTTATATATTTATGATATATAAACATAATTTTTTATA TTTATGATATATAAACATAATTTTTTATATTTATGATATATAAACATAAT TTTTTATATTTATGATATATAAACATAAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1778		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169771338	A A	AATTATGT others(206): Show AATTATGTTTATATATCATAAATATAAAAAATTATGTTTATATATCATAA ATATAAAAAATTATGTTTATATATCATAAATATAAAAATTTATGTTTATA TATCATAAATATATAAAAATTTATGTTTATATATAATAAATATATAAAAA TTTATGTTTATATATAATAAATATATAAAAATTTATGTTTATATATAATA AATATATAAAAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG03471.hp1 HG02818.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0049 a0002c0002t0001g0008 a0002c0002t0001g0049	2	418	0.0048	213	c.-18 others(224): Show c.-1819_-1818insAATTTTTATATATTTATTATATATAAACATAAAT TTTTATATATTTATTATATATAAACATAAATTTTTATATATTTATTATAT ATAAACATAAATTTTTATATATTTATGATATATAAACATAAATTTTTATA TTTATGATATATAAACATAATTTTTTATATTTATGATATATAAACATAAT TTTTTATATTTATGATATATAAACATAAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1778		chr3	TogoVar
ADARB2_chr10_1172313_1742525	1326915	C C	CCAGCGCC others(206): Show CCAGCGCCTCCCCACGGCCCAGCGCCTCCCCACGGCACAGCGCCTCCCCA CTGCCCAGCGCCTCCCCACTGCACAGCGCCTCACTGCACAGCGCCTCCCC ACTGCCCAGCGCCTCCCCACGGCACAGCGCCTCCCCACTGCCCAGCGCCT CCCCACGGCACAGCGCCTCCCCACGGCACAGCGCCTCCCCACGGCACAGC GCCTCCCCACGGCA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0034 a0001c0001t0030g0034	1	106	0.0094	213	c.107 others(234): Show c.1077+36112_1077+36113insTGCCGTGGGGAGGCGCTGTGCCGT GGGGAGGCGCTGTGCCGTGGGGAGGCGCTGTGCCGTGGGGAGGCGCTGGG CAGTGGGGAGGCGCTGTGCCGTGGGGAGGCGCTGGGCAGTGGGGAGGCGC TGTGCAGTGAGGCGCTGTGCAGTGGGGAGGCGCTGGGCAGTGGGGAGGCG CTGTGCCGTGGGGAGGCGCTGGGCCGTGGGGAGGCGCTG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADGRB1_chr8_142444649_142550007	142520399	A A	ATGGTGGT others(206): Show ATGGTGGTGATGGTTGTGTTGGTGATGGTGGTACTGATTGTGTGATAATG GTGATGGTGATGATGGTGATGTGGTAGATAGTGATGGTGGTGATGGCGTG GTGGTGTTAGTGATTGTGATGGTGATGGTGGTGGTGGTGGTGATGGAGTG ATGATGGTGATGGTGGTAGTGATTGTGATGGTGGTGATAGTGGTGCTGAT GGTGGTGATGGCTG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	310	0.0032	213	c.292 others(230): Show c.2922-422_2922-421insGTGGTGATGGTTGTGTTGGTGATGGTGG TACTGATTGTGTGATAATGGTGATGGTGATGATGGTGATGTGGTAGATAG TGATGGTGGTGATGGCGTGGTGGTGTTAGTGATTGTGATGGTGATGGTGG TGGTGGTGGTGATGGAGTGATGATGGTGATGGTGGTAGTGATTGTGATGG TGGTGATAGTGGTGCTGATGGTGGTGATGGCTGTG	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
AFDN_chr6_167821911_167977023	167976588	G G	GAGAAGAC others(206): Show GAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGGGGGGAGGAGAAGAC AGTGGGGGTCATTCCCCCTGCAGTGTTGGGGGAGGAGAAGGCAGTGGGGG TCATTCCCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCC CCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGT GTTGGGGGAGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0273 a0001c0007t0005g0273	1	326	0.0031	213	c.66 others(224): Show c.6653_*6654insAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTG GGGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTTGGGGGAGG AGAAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTTGGGAGGAGGAGGCA GTGGGGGTCATTCCCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGT CATTCCCCCTGCAGTGTTGGGGGAGGAGA	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding		4566		chr6	TogoVar
AHCYL2_chr7_129220030_129435211	129331679	T T	TAAAAATA others(206): Show TAAAAATACAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCC CAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0232 a0001c0002t0003g0232	1	292	0.0034	213	c.364 others(232): Show c.364-47946_364-47945insAAATTAGCCGGGCGTAGTGGCGGGCG CCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAATACAAAAA	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHCYL2_chr7_129220030_129435211	129331679	T T	TAAAAATA others(206): Show TAAAAATACAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCC CAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGG AGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0220 a0001c0002t0003g0220	1	292	0.0034	213	c.364 others(232): Show c.364-47946_364-47945insAAATTAGCCGGGCGTAGTGGCGGGCG CCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGTGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAATACAAAAA	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(206): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGAGAGGG GGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAG GGGGGGGAGGGGGGAGAGGGGGAGGGGAGGGGGGAGAGGGGGAGGGGAGG GGGAGAGGGGGGAGGGGAGAGGGGAGAGAGAAGGGAGAGAGGGGGGAGGG GGGGAGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0229 a0001c0001t0003g0229	1	356	0.0028	213	c.667 others(228): Show c.667-817_667-816insTCTCCCCTCTCCCCCCCTCCCCCCTCTCTC CCTTCTCTCTCCCCTCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCTCT CCCCCCTCCCCTCCCCCTCTCCCCCCTCCCCCCCCTCCCCTCCCCCTTCC CCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCTCTCCC CCTCTCCCCTCTCCCCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(206): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGGAGAGGGGGAGAGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGAAGGGGGGGAGAGGGGGAAGGGGGAGGGG AGGGGGGAGGGGGGAGAGGGGGAGGGGAGGGGGGAGAGGGGGAGGGGAGG GGGAGAGGGGGGAGGGGAGAGGGGAGAGAGAAGGGAGAGAGGGGGGAGGG GGGGAGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0005 a0001c0001t0011g0005	1	356	0.0028	213	c.667 others(228): Show c.667-817_667-816insTCTCCCCTCTCCCCCCCTCCCCCCTCTCTC CCTTCTCTCTCCCCTCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCTCT CCCCCCTCCCCTCCCCCTCTCCCCCCTCCCCCCTCCCCTCCCCCTTCCCC CTCTCCCCCCCTTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCTCTCCCC CTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
ANO6_chr12_45211095_45437349	45353034	C C	CAAAACTT others(206): Show CAAAACTTATAAAGGGATAGAAAAGGGGGAAAAGATAAAAAATTAGATCA GTCCAGGCCGGTACAATGTATAAATAATAGGATTGTGAGAAACCAGGGGA GAAAAAATGTAGGGAAGAAATCTGAGAAGTACTTCCAGAGAAGTATCTGA AGAACTGAACATCATGAGTCTCTAGGTGGAAAGAGCCTGCTGAGTACCCA GCCTAGAGGATGAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp2 HG02258.hp1 others(8): Show HG01891.hp2 HG02257.hp2 HG02258.hp1 HG02922.hp1 HG03130.hp1 HG03139.hp1 HG03453.hp1 HG03540.hp1 NA18906.hp2 NA19043.hp1 NA21309.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0005	a0002c0006 a0003c0004 a0004c0005 others(1): Show a0002c0006 a0003c0004 a0004c0005 a0005c0008	a0002c0006t0004 a0003c0004t0004 a0004c0005t0010 others(2): Show a0002c0006t0004 a0003c0004t0004 a0004c0005t0010 a0004c0005t0019 a0005c0008t0014	a0002c0006t0004g0001 a0002c0006t0004g0003 a0002c0006t0004g0004 others(8): Show a0002c0006t0004g0001 a0002c0006t0004g0003 a0002c0006t0004g0004 a0003c0004t0004g0149 a0003c0004t0004g0150 a0003c0004t0004g0151 a0004c0005t0010g0061 a0004c0005t0010g0180 a0004c0005t0019g0018 a0005c0008t0014g0143 a0005c0008t0014g0147	11	234	0.0470	213	c.863 others(230): Show c.863+2260_863+2261insAAAACTTATAAAGGGATAGAAAAGGGGG AAAAGATAAAAAATTAGATCAGTCCAGGCCGGTACAATGTATAAATAATA GGATTGTGAGAAACCAGGGGAGAAAAAATGTAGGGAAGAAATCTGAGAAG TACTTCCAGAGAAGTATCTGAAGAACTGAACATCATGAGTCTCTAGGTGG AAAGAGCCTGCTGAGTACCCAGCCTAGAGGATGAT	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	7/19			chr12	TogoVar
ANXA2R_chr5_43034371_43045319	43043799	T T	TATATATA others(206): Show TATATATATAATATATAATATATATATTATATATATAATATATAATATAT AATATATATAATATATTATATAATATATAATATATATAATATATTATATA ATATATAATATATATAATATATTATATAATATATAATATATATAATATAT TATATAATATATAATATATATAATATATTATATAATATATAATATATATA ATATATTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	296	0.0034	213	c.-37 others(224): Show c.-3754_-3753insTATATATAATATATTATATATATTATATATTATA TAATATATTATATATATTATATATTATATAATATATTATATATATTATAT ATTATATAATATATTATATATATTATATATTATATAATATATTATATATA TTATATATTATATAATATATTATATATATTATATATTATATATTATATAT ATAATATATATATTATATATTATATATAT	ANXA2R	ENSG00000177721.5	transcript	ENST00000616064.2	protein_coding		3481		chr5	TogoVar
ARHGAP39_chr8_144524179_144690846	144687082	C C	CCACCCCT others(206): Show CCACCCCTGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCA CGCACTGGCGGCGAGCACTTCCCACCCCTGTGACCACGCACTGGCGGCGA GCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCT GTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACTCATTTA CAGCGAGCACTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0011 a0001c0005t0001g0011	1	246	0.0041	213	c.-14 others(224): Show c.-1479_-1478insAGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGT GGGAAGTGCTCGCCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTCGCC GCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCA CAGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTG CTCGCCGCCAGTGCGTGGTCACAGGGGTG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1237		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687192	C C	CCCCCGTG others(206): Show CCCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCTGTGACCACG CACTGGCGGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCA CTTCCCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTG ACCACTCATTTACAGCGAGCACTTCTCACCCCCGTGACCACACACTGGCG GCGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	246	0.0041	213	c.-15 others(224): Show c.-1589_-1588insTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGG GGTGAGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCG CCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCTGTAAATGAGTGG TCACGGGGTGGGAAGTGCTCACCGCCAGTGCGTGGTCACAGGGGTGGGAA GTGCTCGCCGCCAGTGCGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1347		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687316	G G	GGCGGTGA others(206): Show GGCGGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTC TCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCA CACATTTACAGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAG CACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCC GTGACCACACACTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0243 a0001c0001t0005g0243	1	246	0.0041	213	c.-17 others(224): Show c.-1713_-1712insTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACC GCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTC ACGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTG CTCGCCGCCAGTGTGTGGTCACGGGGGTGAGAAGTGCTCGCTGTAAATGA GTGGTCACGGGGTGGGAAGTGCTCACCGC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1471		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687461	G G	GGTGAGCA others(206): Show GGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCA CCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGACCACAC ACTGGCGGCGAGCACTTCCCACCCCCGTGACCACACATTTACAGTGAGCA CTTCCCACCCCTGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTG ACCACACATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG02027.hp1 NA18943.hp1 HG01358.hp2 HG02027.hp1 NA18943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0096 a0001c0002t0001g0116 a0001c0002t0001g0164 a0001c0002t0001g0096 a0001c0002t0001g0116 a0001c0002t0001g0164	3	246	0.0122	213	c.-18 others(224): Show c.-1858_-1857insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTCACTGTAAATGTGTGG TCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGA AGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAG TGTGTGGTCACGGGGTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1616		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687652	C C	CCCCCGTG others(206): Show CCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACAC ATTTACAGTGAGCACTTCCCACCCCTGTGACCACACACTGGCGGTGAGCA CTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGT GACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACACATTTACA GTGAACACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0217 a0001c0002t0022g0217	1	246	0.0041	213	c.-20 others(224): Show c.-2049_-2048insTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGG GTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGG TCACAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAA GTGCTCACCGCCAGTGTGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1807		chr8	TogoVar
ARHGDIG_chr16_275591_288010	285983	T T	TCCCAACC others(206): Show TCCCAACCCCGCGGTTCTCCCAACCCCACGGTTCTCCCAACCCCAACCCC GCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCC CAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGC GGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCC GCGGTTCTCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 NA18959.hp2 NA19089.hp2 HG01361.hp2 NA18959.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0002 a0001c0001t0019g0002 a0001c0001t0001g0002 a0001c0001t0019g0002	3	442	0.0068	213	c.31 others(224): Show c.3169_*3170insCCCAACCCCGCGGTTCTCCCAACCCCACGGTTCT CCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCA ACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCC CAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAAC CCCAACCCCAACCCCGCGGTTCTCCCAAC	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding		2974		chr16	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(206): Show CCTCCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCC CTCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTCCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCC CTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0083 a0005c0004t0001g0083	1	264	0.0038	213	c.102 others(230): Show c.1024+312_1024+313insCTCCCCCTCCCCCCTCCTCCCCCTTCCC CTCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCT CCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCT CCCCCTCCCTCCCCCTCCCCCTCCCCCTCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(206): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCC TCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTCCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCC CTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	264	0.0038	213	c.102 others(230): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCT CCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043553	T T	TCCCCCTC others(206): Show TCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTC CCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTCCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCTC CCCCTCTCCCCCTC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	264	0.0038	213	c.102 others(230): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTC CCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL15_chr5_53878942_54315573	54094554	A A	AATAAAAT others(206): Show AATAAAATAAAGCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGC GCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCC GGCTAATTTTTTGT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	206	0.0049	213	c.462 others(232): Show c.462+18647_462+18648insACAAAAAATTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAATGCTTTATTTTAT	ARL15	ENSG00000185305.12	transcript	ENST00000504924.6	protein_coding	4/4			chr5	TogoVar
ASB5_chr4_176208673_176274222	176219103	T T	TATATATA others(206): Show TATATATATTTGTATGATATATAAATATATATATTTGTATGATATATATA TTTGTATGATATATAAATATATATATTTGTATGATATATAAATATATATG TATGATATATAAATATATATTTGTATGATATATAAATATATATATTTGTA TGATATATAAATATATATATATTTGTATGATATATAAATATATATATATT TGTATGATATATAA	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0274 a0001c0002t0001g0274	1	410	0.0024	213	c.670 others(230): Show c.670+2051_670+2052insTTATATATCATACAAATATATATATATT TATATATCATACAAATATATATATATTTATATATCATACAAATATATATA TTTATATATCATACAAATATATATTTATATATCATACATATATATTTATA TATCATACAAATATATATATTTATATATCATACAAATATATATATCATAC AAATATATATATTTATATATCATACAAATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ATOSA_chr15_52576321_52684388	52674205	T T	TAAGACCA others(206): Show TAAGACCACATTTTACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA AGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGA CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA19009.hp1 HG04115.hp2 NA19009.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0247 a0004c0005t0001g0248 a0004c0005t0001g0247 a0004c0005t0001g0248	2	362	0.0055	213	c.16+ others(228): Show c.16+3800_16+3801insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGC AGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACC GCGCCCGGCTAATTTTTTGTAAAATGTGGTCTT	ATOSA	ENSG00000047346.13	transcript	ENST00000619572.5	protein_coding	2/12			chr15	TogoVar
ATXN7L1_chr7_105599772_105881599	105825614	A A	AAGCATGT others(206): Show AAGCATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0241 a0001c0001t0013g0241	1	252	0.0040	213	c.251 others(232): Show c.251-36907_251-36906insAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAACATGCT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11			chr7	TogoVar
AXIN1_chr16_282440_357723	285983	T T	TCCCAACC others(206): Show TCCCAACCCCGCGGTTCTCCCAACCCCACGGTTCTCCCAACCCCAACCCC GCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCC CAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGC GGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCC GCGGTTCTCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01361.hp1 NA18959.hp1 HG01261.hp2 HG01361.hp1 NA18959.hp1	a0001 a0001	a0001c0004 a0001c0014 a0001c0004 a0001c0014	a0001c0004t0026 a0001c0014t0020 a0001c0004t0026 a0001c0014t0020	a0001c0004t0026g0348 a0001c0014t0020g0070 a0001c0014t0020g0071 a0001c0004t0026g0348 a0001c0014t0020g0070 a0001c0014t0020g0071	3	378	0.0079	213	c.21 others(224): Show c.2138_*2139insGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGG GAGAACCGCGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTT GGGAGAACCGCGGGGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGG TTGGGAGAACCGCGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGAGAAC CGTGGGGTTGGGAGAACCGCGGGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1456		chr16	TogoVar
B4GALNT4_chr11_364499_387117	374933	G G	GAGGGAGG others(206): Show GAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGG GAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG GAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGG GGAAGGGAGGGAGGGGGGAAGGGAGGGAGGGGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0131 a0006c0010t0001g0131	1	184	0.0054	213	c.784 others(228): Show c.784-521_784-520insAGGAAGGGAGGGAGGGAGGAGGAAGGGAGG GAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGGGGAAGGGAGGGAGGGGGGAAGGGAGGGAGGGGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(206): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGAAGGAGAGGGGG GATGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG AGGGGGAGGGGGAGGGAGAGGGGGAGGGGAGGGGGAGAGGGGGGAGGGAG AGGGGGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGG GGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	298	0.0034	213	c.51+ others(226): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCTCTCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCCTCCCCCCTCCCCATCCCCCCTCTCCTTCCCCCT CCCCCTCCCTCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
C10orf90_chr10_126419997_126675693	126564835	T T	TATATATA others(206): Show TATATATATAATATATATAATATATAATATATATTATATATAATATATAT TATATATAATATATAATATATATTATATATAATATATATTATATATAATA TATATTATATATAATATATATTATATATAATATATATTATATATTATATA AAATATATATTATATATAATATATATTATATATTATATATAATATATAAT ATATATTATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0155 a0001c0001t0006g0155	1	218	0.0046	213	c.314 others(232): Show c.314-50897_314-50896insTATATATAATATATATTATATATTAT ATATAATATATAATATATATTATATATAATATATATTTTATATAATATAT AATATATATTATATATAATATATATTATATATAATATATATTATATATAA TATATATTATATATAATATATATTATATATTATATATAATATATATTATA TATAATATATATTATATATTATATATATTATATATAT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
CA10_chr17_51625320_52163714	51831667	A A	AAGCAGCA others(206): Show AAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC AGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA GCAGCAGCAGCAGC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0126	1	156	0.0064	213	c.280 others(232): Show c.280-83850_280-83849insGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CACNA1C_chr12_2047987_2702950	2105946	G G	GCCCACCC others(206): Show GCCCACCCTGGAGAGGGTTTCCACCTGAGCTGGGCGTCCTGAAGCCACTG GGCGCCCACCCTGGAGAGAGTTTCCACCTCAGCTGGGCGTCCTGAAGCCA CTGGGTGCCCACCCCGGAGAGGGTTTCCACCTGAGCTGGGCGTCCTGAAG CCACTGGGCGCCCACCCCGGGGAGGATTTCTACCTCATCTGGGGCGTCCT GAAGCCACTGGGCA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0032 a0001c0001t0043g0032	1	104	0.0096	213	c.50- others(228): Show c.50-9271_50-9270insTGGAGAGGGTTTCCACCTGAGCTGGGCGTC CTGAAGCCACTGGGCGCCCACCCTGGAGAGAGTTTCCACCTCAGCTGGGC GTCCTGAAGCCACTGGGTGCCCACCCCGGAGAGGGTTTCCACCTGAGCTG GGCGTCCTGAAGCCACTGGGCGCCCACCCCGGGGAGGATTTCTACCTCAT CTGGGGCGTCCTGAAGCCACTGGGCACCCACCC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2106544	A A	AGAGGGTT others(206): Show AGAGGGTTTCCACCTCAGCTGGGCATCCTGAAGCCACTGGGTGCTCACCC TGGAGAGGGTTTCCACCTCAGCTGGGCATCCTGAAGCCACTGGGCGCCCA CCCCGGGGAGGGTTTCCACCTCAGCTGGGGTGTCCTGAAGCCACTGGGAG CCCACCCCGGGGAGGGTTTCCACCTCAGCTGGGCATCCTGAAGCCACTGG GCGCCCACCCCGGG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	104	0.0096	213	c.50- others(228): Show c.50-8551_50-8550insTGTCCTGAAGCCACTGGGAGCCCACCCCGG GGAGGGTTTCCACCTCAGCTGGGCATCCTGAAGCCACTGGGCGCCCACCC CGGGGAGGGTTTCCACCTCAGCTGGGCATCCTGAAGCCACTGGGTGCTCA CCCTGGAGAGGGTTTCCACCTCAGCTGGGCATCCTGAAGCCACTGGGCGC CCACCCCGGGGAGGGTTTCCACCTCAGCTGGGG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1H_chr16_1148106_1226768	1185661	G G	GGGCCGGG others(206): Show GGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGC ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGGCGAGTAGACGGTCGGC ATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTC GGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGGCGGGCGAGTAGAC GGTCGGCATGCATA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	338	0.0030	213	c.300 others(230): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGG GGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTG GGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39596250	T T	TGGGGGGG others(206): Show TGGGGGGGCAGGGCGGAGAGAGATGGGGGGCAGGGCGGAGGGAGATGGGG GGCAGGGCGGAGGGAGATGGGGGAGCAGGACGGAGGGAGATGGGGGCAGG GCGGAGGGAGATGGGGGGCAGGGCGGAGAGAGATGGGGGCAGGGCGGAGG GAGATGGGGGGGCAGGGCGGAGAGAGATGGCGGAGAGAGATGGGGGAGCA GGGTGGAGGGAGAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0151	1	236	0.0042	213	c.237 others(230): Show c.237-1895_237-1894insGCAGGGCGGAGAGAGATGGGGGGCAGGG CGGAGGGAGATGGGGGGCAGGGCGGAGGGAGATGGGGGAGCAGGACGGAG GGAGATGGGGGCAGGGCGGAGGGAGATGGGGGGCAGGGCGGAGAGAGATG GGGGCAGGGCGGAGGGAGATGGGGGGGCAGGGCGGAGAGAGATGGCGGAG AGAGATGGGGGAGCAGGGTGGAGGGAGATGGGGGG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CALCOCO2_chr17_48826035_48870245	48858046	A A	ATAGAATA others(206): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0326 a0002c0003t0004g0326	1	328	0.0031	213	c.100 others(232): Show c.1008+1859_1008+1860insTAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAG	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12			chr17	TogoVar
CAPN15_chr16_522712_559636	550778	T T	TCCCCGGT others(206): Show TCCCCGGTCGGTGAGGGCGCCCCGTCAGTGAGGGTCCCGGTCGGTGAGGG CCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGGCCCCTGTCGGTGAGGGC CCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGGCC CCTGTCGGTGAGGGCCCCGGTCGGTGAGGGACCCGGTCGGTGAGGGCCCC TGTCGGTGAGGGTC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02622.hp2 NA18947.hp2 others(7): Show HG01433.hp1 HG02622.hp2 NA18947.hp2 NA18955.hp1 NA18975.hp1 NA19003.hp1 NA19030.hp1 NA19077.hp1 NA19086.hp1 NA19087.hp1	a0003 a0005 a0038 a0003 a0005 a0038	a0003c0010 a0003c0011 a0003c0040 others(3): Show a0003c0010 a0003c0011 a0003c0040 a0003c0041 a0005c0039 a0038c0042	a0003c0010t0001 a0003c0011t0001 a0003c0040t0001 others(3): Show a0003c0010t0001 a0003c0011t0001 a0003c0040t0001 a0003c0041t0001 a0005c0039t0001 a0038c0042t0004	a0003c0010t0001g0022 a0003c0010t0001g0032 a0003c0010t0001g0033 others(7): Show a0003c0010t0001g0022 a0003c0010t0001g0032 a0003c0010t0001g0033 a0003c0010t0001g0034 a0003c0010t0001g0338 a0003c0011t0001g0038 a0003c0040t0001g0031 a0003c0041t0001g0360 a0005c0039t0001g0035 a0038c0042t0004g0385	10	410	0.0244	213	c.206 others(230): Show c.2067-521_2067-520insCGGTCGGTGAGGGCGCCCCGTCAGTGAG GGTCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGG GCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGT CCCCGGTCGGTGAGGGCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGAC CCGGTCGGTGAGGGCCCCTGTCGGTGAGGGTCCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CARMIL1_chr6_25274374_25625530	25459266	C C	CTTTCTTT others(206): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0079 a0001c0004t0002g0079	1	186	0.0054	213	c.615 others(230): Show c.615-6604_615-6603insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(206): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAGGAAGAAGAA GAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGG AGGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGAGGGGGGAGGGGGA GAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGA AGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0215 a0001c0001t0004g0215	1	364	0.0028	213	c.234 others(230): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCCTCTCCTTC TCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCCT CCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCCT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(206): Show AAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGG AAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGGAGAA GGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	364	0.0028	213	c.234 others(230): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTCCTTCTTCTT CTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(206): Show AAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGG GAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAA GGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	364	0.0028	213	c.234 others(230): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAG others(206): Show AAGAAGAGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGG GAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAA GGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	364	0.0028	213	c.234 others(230): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCCTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar

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