Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
OGN_chr9_92378268_92409578	92390587	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 NA18980.hp1 HG01168.hp2 HG01169.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0020 a0001c0001t0004g0052 a0001c0001t0004g0020 a0001c0001t0004g0052	3	366	0.0082	18	c.428 others(33): Show c.428-532_428-531insGCGCGCACACACACACAC	OGN	ENSG00000106809.11	transcript	ENST00000375561.10	protein_coding	4/6			chr9	TogoVar
OLA1_chr2_174067447_174253532	174091869	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	262	0.0038	18	c.729 others(35): Show c.729-9823_729-9806dupTTTTTTTTTTTTTTTTTT	OLA1	ENSG00000138430.16	transcript	ENST00000284719.8	protein_coding	7/10			chr2	TogoVar
OLA1_chr2_174067447_174253532	174144951	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0053 a0001c0001t0013g0053	1	262	0.0038	18	c.374 others(35): Show c.374-2952_374-2951insATATATATATTTTTTTTT	OLA1	ENSG00000138430.16	transcript	ENST00000284719.8	protein_coding	4/10			chr2	TogoVar
OLFM1_chr9_135082668_135126180	135091614	C C	CAGTCACA others(11): Show CAGTCACACACACTCACAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00738.hp1 HG00741.hp2 others(28): Show HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01192.hp1 HG01358.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02148.hp2 HG02273.hp2 HG02300.hp1 HG03486.hp2 HG03688.hp2 HG04184.hp2 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18949.hp1 NA18974.hp1 NA18974.hp2 NA18983.hp1 NA18998.hp1 NA19000.hp1 NA19055.hp1 NA19084.hp2 NA19087.hp1 NA19089.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0009 a0001c0002 a0002c0009	a0001c0002t0002 a0001c0002t0003 a0001c0002t0018 others(1): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0018 a0002c0009t0023	a0001c0002t0002g0004 a0001c0002t0002g0015 a0001c0002t0002g0254 others(25): Show a0001c0002t0002g0004 a0001c0002t0002g0015 a0001c0002t0002g0254 a0001c0002t0002g0258 a0001c0002t0002g0261 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0003g0255 a0001c0002t0003g0256 a0001c0002t0003g0259 a0001c0002t0003g0260 a0001c0002t0003g0262 a0001c0002t0003g0266 a0001c0002t0003g0267 a0001c0002t0003g0273 a0001c0002t0003g0279 a0001c0002t0018g0257 a0002c0009t0023g0278	31	360	0.0861	18	c.300 others(35): Show c.300+1301_300+1318dupTCACATAGTCACACACAC	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
OLFM1_chr9_135082668_135126180	135124656	G G	GAAAGAAG others(11): Show GAAAGAAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0256 a0001c0002t0003g0256	1	360	0.0028	18	c.44 others(29): Show c.4478_*4479insAAAGAAGAGAGAGAGAGA	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding		3477		chr9	TogoVar
OLFM1_chr9_135082668_135126180	135124688	A A	AAAGAAGA others(11): Show AAAGAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02559.hp2 HG02723.hp2 others(4): Show HG01243.hp1 HG02559.hp2 HG02723.hp2 HG02809.hp2 HG02976.hp2 HG03540.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0288 others(4): Show a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0288 a0001c0001t0004g0290 a0001c0001t0004g0293 a0001c0001t0004g0299 a0001c0001t0005g0078	7	360	0.0194	18	c.45 others(29): Show c.4510_*4511insAAGAAGAAAGAAAGAAAG	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding		3509		chr9	TogoVar
OLFM2_chr19_9848718_9941515	9894376	C C	CAATAATA others(11): Show CAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG01884.hp1 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0285 a0001c0001t0001g0286	2	342	0.0059	18	c.64- others(35): Show c.64-33600_64-33583dupATTATTATTATTATTATT	OLFM2	ENSG00000105088.9	transcript	ENST00000264833.9	protein_coding	1/5			chr19	TogoVar
OLFM2_chr19_9848718_9941515	9894412	T T	TAATAATA others(11): Show TAATAATAATAATAATAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03130.hp1 HG03139.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0214 a0001c0001t0001g0294 a0001c0001t0001g0156 a0001c0001t0001g0214 a0001c0001t0001g0294	3	342	0.0088	18	c.64- others(35): Show c.64-33619_64-33618insTTTATTATTATTATTATT	OLFM2	ENSG00000105088.9	transcript	ENST00000264833.9	protein_coding	1/5			chr19	TogoVar
OLFM3_chr1_101797560_102001926	101828046	G G	GTCTGTCT others(11): Show GTCTGTCTGTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0252 a0001c0002t0013g0252	1	306	0.0033	18	c.372 others(35): Show c.372+2625_372+2626insGAGAGAGAGACAGACAGA	OLFM3	ENSG00000118733.17	transcript	ENST00000370103.9	protein_coding	3/5			chr1	TogoVar
OLFM3_chr1_101797560_102001926	101966317	T T	TTTTGTGT others(11): Show TTTTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG03490.hp2 HG03834.hp1 others(4): Show HG02155.hp2 HG03490.hp2 HG03834.hp1 NA18941.hp1 NA18951.hp2 NA18983.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0097 a0001c0001t0003g0235 a0001c0001t0003g0240 others(4): Show a0001c0001t0002g0097 a0001c0001t0003g0235 a0001c0001t0003g0240 a0001c0001t0003g0271 a0001c0001t0004g0249 a0001c0001t0004g0257 a0001c0001t0004g0270	7	306	0.0229	18	c.69+ others(35): Show c.69+30430_69+30431insCACACACACACACACAAA	OLFM3	ENSG00000118733.17	transcript	ENST00000370103.9	protein_coding	1/5			chr1	TogoVar
OLFM3_chr1_101797560_102001926	101967590	G G	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02258.hp1 NA18980.hp2 others(1): Show HG02080.hp2 HG02258.hp1 NA18980.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0155 a0001c0001t0001g0169 a0001c0001t0001g0185 others(1): Show a0001c0001t0001g0155 a0001c0001t0001g0169 a0001c0001t0001g0185 a0001c0001t0002g0129	4	306	0.0131	18	c.69+ others(35): Show c.69+29140_69+29157dupTTTTTTTTTTTTTTTTTT	OLFM3	ENSG00000118733.17	transcript	ENST00000370103.9	protein_coding	1/5			chr1	TogoVar
OLFM3_chr1_101797560_102001926	101991016	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0300 a0001c0001t0003g0300	1	306	0.0033	18	c.69+ others(33): Show c.69+5714_69+5731dupATATATATATATATATAT	OLFM3	ENSG00000118733.17	transcript	ENST00000370103.9	protein_coding	1/5			chr1	TogoVar
OMA1_chr1_58475719_58551726	58518272	G G	GGGGAGAG others(11): Show GGGGAGAGGGGAGAGGGGA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02165.hp1 HG02523.hp2 others(10): Show HG02056.hp2 HG02165.hp1 HG02523.hp2 NA18939.hp1 NA18950.hp2 NA18955.hp1 NA18969.hp1 NA18969.hp2 NA18979.hp1 NA19000.hp2 NA19011.hp1 NA19030.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0165 others(10): Show a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0305 a0001c0001t0004g0200 a0001c0001t0004g0201	13	384	0.0339	18	c.121 others(37): Show c.1215+8988_1215+8989insTCCCCTCTCCCCTCTCCC	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OMA1_chr1_58475719_58551726	58518277	G G	GAGGGGAG others(11): Show GAGGGGAGAGGGGAGAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG01123.hp1 others(11): Show HG00099.hp2 HG00323.hp1 HG01123.hp1 HG01261.hp1 HG01361.hp2 HG02922.hp2 NA18522.hp2 NA18954.hp2 NA19011.hp2 NA19012.hp1 NA19055.hp2 NA19060.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0206 a0001c0001t0001g0207 others(11): Show a0001c0001t0001g0123 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0219 a0001c0001t0001g0260 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0292 a0001c0001t0001g0313 a0001c0001t0001g0316	14	384	0.0365	18	c.121 others(37): Show c.1215+8983_1215+8984insTCCTCTCCCCTCTCCCCT	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OMD_chr9_92407380_92429471	92416058	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	428	0.0023	18	c.940 others(33): Show c.940+560_940+561insTATATATATATATATATA	OMD	ENSG00000127083.8	transcript	ENST00000375550.5	protein_coding	2/2			chr9	TogoVar
OMD_chr9_92407380_92429471	92416058	G G	GTGTGTGT others(11): Show GTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0056 a0002c0002t0008g0056	1	428	0.0023	18	c.940 others(33): Show c.940+560_940+561insTATATATATATACACACA	OMD	ENSG00000127083.8	transcript	ENST00000375550.5	protein_coding	2/2			chr9	TogoVar
OMD_chr9_92407380_92429471	92416058	G G	GTGTGTGT others(11): Show GTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0055 a0002c0002t0004g0055	1	428	0.0023	18	c.940 others(33): Show c.940+560_940+561insTATATATATACACACACA	OMD	ENSG00000127083.8	transcript	ENST00000375550.5	protein_coding	2/2			chr9	TogoVar
OMG_chr17_31289647_31302239	31293178	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG03669.hp2 HG02074.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	364	0.0055	18	c.18 others(29): Show c.1813_*1830dupTTTTTTTTTTTTTTTTTT	OMG	ENSG00000126861.5	transcript	ENST00000247271.5	protein_coding		1468		chr17	TogoVar
ONECUT1_chr15_52750053_52795336	52760981	C C	CAGGTGAG others(11): Show CAGGTGAGGTCCATTCTTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(363): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0007 a0003c0005 a0004c0004 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(56): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0002t0006 a0001c0002t0008 a0001c0002t0011 a0001c0002t0057 a0001c0002t0058 a0001c0003t0014 a0001c0003t0032 a0001c0003t0060 a0001c0006t0002 a0002c0007t0001 a0003c0005t0021 a0004c0004t0005 a0005c0008t0002	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(322): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0002g0001 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0294 a0001c0001t0004g0002 a0001c0001t0004g0054 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0081 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0099 a0001c0001t0004g0128 a0001c0001t0004g0186 a0001c0001t0005g0209 a0001c0001t0005g0214 a0001c0001t0005g0243 a0001c0001t0005g0247 a0001c0001t0005g0254 a0001c0001t0005g0259 a0001c0001t0005g0263 a0001c0001t0005g0264 a0001c0001t0005g0291 a0001c0001t0005g0292 a0001c0001t0007g0033 a0001c0001t0007g0034 a0001c0001t0007g0036 a0001c0001t0007g0357 a0001c0001t0007g0358 a0001c0001t0007g0360 a0001c0001t0008g0327 a0001c0001t0008g0331 a0001c0001t0009g0306 a0001c0001t0009g0307 a0001c0001t0009g0308 a0001c0001t0009g0309 a0001c0001t0009g0310 a0001c0001t0009g0311 a0001c0001t0010g0030 a0001c0001t0010g0031 a0001c0001t0010g0301 a0001c0001t0010g0305 a0001c0001t0011g0325 a0001c0001t0011g0326 a0001c0001t0011g0329 a0001c0001t0011g0330 a0001c0001t0012g0038 a0001c0001t0012g0039 a0001c0001t0012g0040 a0001c0001t0012g0041 a0001c0001t0012g0042 a0001c0001t0013g0029 a0001c0001t0013g0219 a0001c0001t0013g0276 a0001c0001t0013g0290 a0001c0001t0015g0352 a0001c0001t0015g0353 a0001c0001t0015g0354 a0001c0001t0015g0355 a0001c0001t0016g0025 a0001c0001t0016g0203 a0001c0001t0018g0277 a0001c0001t0018g0281 a0001c0001t0018g0282 a0001c0001t0019g0026 a0001c0001t0019g0213 a0001c0001t0021g0298 a0001c0001t0021g0300 a0001c0001t0022g0323 a0001c0001t0022g0324 a0001c0001t0022g0328 a0001c0001t0023g0035 a0001c0001t0023g0359 a0001c0001t0024g0009 a0001c0001t0025g0010 a0001c0001t0026g0102 a0001c0001t0026g0105 a0001c0001t0028g0024 a0001c0001t0029g0253 a0001c0001t0029g0293 a0001c0001t0030g0279 a0001c0001t0030g0283 a0001c0001t0031g0302 a0001c0001t0031g0303 a0001c0001t0034g0037 a0001c0001t0036g0117 a0001c0001t0037g0147 a0001c0001t0038g0157 a0001c0001t0039g0130 a0001c0001t0040g0134 a0001c0001t0041g0158 a0001c0001t0042g0159 a0001c0001t0043g0154 a0001c0001t0044g0153 a0001c0001t0045g0204 a0001c0001t0046g0205 a0001c0001t0047g0206 a0001c0001t0048g0207 a0001c0001t0049g0278 a0001c0001t0050g0271 a0001c0001t0051g0269 a0001c0001t0052g0242 a0001c0001t0053g0237 a0001c0001t0054g0299 a0001c0001t0055g0304 a0001c0002t0006g0032 a0001c0002t0006g0313 a0001c0002t0006g0314 a0001c0002t0006g0315 a0001c0002t0006g0317 a0001c0002t0006g0318 a0001c0002t0006g0319 a0001c0002t0006g0320 a0001c0002t0006g0321 a0001c0002t0008g0332 a0001c0002t0008g0335 a0001c0002t0008g0337 a0001c0002t0008g0338 a0001c0002t0008g0339 a0001c0002t0008g0340 a0001c0002t0011g0333 a0001c0002t0011g0334 a0001c0002t0057g0316 a0001c0002t0058g0336 a0001c0003t0014g0341 a0001c0003t0014g0344 a0001c0003t0014g0346 a0001c0003t0014g0349 a0001c0003t0014g0350 a0001c0003t0032g0343 a0001c0003t0032g0345 a0001c0003t0060g0342 a0001c0006t0002g0295 a0002c0007t0001g0202 a0003c0005t0021g0297 a0004c0004t0005g0208 a0005c0008t0002g0296	366	412	0.8884	18	c.110 others(37): Show c.1106-3135_1106-3134insCAAGAATGGACCTCACCT	ONECUT1	ENSG00000169856.9	transcript	ENST00000305901.7	protein_coding	1/1			chr15	TogoVar
ONECUT1_chr15_52750053_52795336	52777735	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	412	0.0024	18	c.110 others(39): Show c.1105+11044_1105+11045insTTTTTTTTTTTTTTTTTT	ONECUT1	ENSG00000169856.9	transcript	ENST00000305901.7	protein_coding	1/1			chr15	TogoVar
ONECUT1_chr15_52750053_52795336	52777737	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	412	0.0024	18	c.110 others(39): Show c.1105+11042_1105+11043insTTTTTTTTTTTTTTTTTT	ONECUT1	ENSG00000169856.9	transcript	ENST00000305901.7	protein_coding	1/1			chr15	TogoVar
ONECUT3_chr19_1748506_1785988	1763366	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01496.hp1 HG01496.hp2 others(11): Show HG00423.hp2 HG01496.hp1 HG01496.hp2 HG01993.hp2 HG02129.hp1 HG02738.hp1 HG02809.hp2 HG04204.hp2 HG04228.hp1 NA18979.hp2 NA18997.hp1 NA18997.hp2 NA19010.hp2 NA19090.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(11): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0046 a0001c0001t0068 a0001c0001t0100 a0001c0001t0163 a0001c0001t0193 a0001c0001t0201 a0001c0001t0230 a0001c0001t0267 a0001c0001t0294 a0003c0003t0176 a0003c0003t0226	a0001c0001t0003g0088 a0001c0001t0004g0234 a0001c0001t0007g0212 others(11): Show a0001c0001t0003g0088 a0001c0001t0004g0234 a0001c0001t0007g0212 a0001c0001t0046g0112 a0001c0001t0068g0090 a0001c0001t0100g0136 a0001c0001t0163g0343 a0001c0001t0193g0160 a0001c0001t0201g0057 a0001c0001t0230g0228 a0001c0001t0267g0325 a0001c0001t0294g0322 a0003c0003t0176g0063 a0003c0003t0226g0207	14	370	0.0378	18	c.119 others(37): Show c.1192+8525_1192+8542dupAAAAAAAAAAAAAAAAAA	ONECUT3	ENSG00000205922.5	transcript	ENST00000382349.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr19	TogoVar
OOEP_chr6_73363555_73374897	73364849	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	18	c.39 others(29): Show c.3934_*3935insAAAAAAAAAAAAAAAAAA	OOEP	ENSG00000203907.10	transcript	ENST00000370359.6	protein_coding		3705		chr6	TogoVar
OOSP4B_chr11_60012181_60036095	60027655	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02071.hp1 HG02897.hp1 others(10): Show HG01167.hp1 HG02071.hp1 HG02897.hp1 HG02897.hp2 HG03942.hp1 NA18950.hp2 NA18956.hp1 NA18967.hp2 NA18984.hp2 NA18997.hp1 NA19003.hp2 NA19079.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0039 a0001c0001t0001g0113 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0039 a0001c0001t0001g0113 a0001c0001t0001g0114	13	396	0.0328	18	c.303 others(35): Show c.303-2119_303-2102dupAAAAAAAAAAAAAAAAAA	OOSP4B	ENSG00000255393.3	transcript	ENST00000642343.2	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
OPA1_chr3_193588208_193702811	193596407	T T	TTTCTTTT others(11): Show TTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01123.hp1 HG01123.hp2 others(16): Show HG00423.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG02257.hp2 HG02258.hp2 HG02717.hp1 HG03486.hp1 HG03540.hp2 NA18951.hp2 NA18952.hp1 NA19001.hp1 NA19030.hp2 NA19043.hp2 NA19088.hp1 NA19090.hp2 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0002t0011	a0002c0002t0001g0134 a0002c0002t0001g0150 a0002c0002t0001g0151 others(16): Show a0002c0002t0001g0134 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0241 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0002g0240 a0002c0002t0007g0209 a0002c0002t0007g0248 a0002c0002t0011g0139 a0002c0002t0011g0140 a0002c0002t0011g0144	19	388	0.0490	18	c.32+ others(33): Show c.32+3014_32+3015insTCTTCTTTTCTTTTCTTT	OPA1	ENSG00000198836.11	transcript	ENST00000361510.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr3	TogoVar
OPCML_chr11_132409981_133537501	132552763	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0004	1	68	0.0147	18	c.380 others(37): Show c.380-23578_380-23577insAAAAAAAAAAAAAAAAAA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	3/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	132579385	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	68	0.0147	18	c.380 others(37): Show c.380-50217_380-50200dupCACACACACACACACACA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	3/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	132638163	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp1 HG01884.hp2 others(1): Show HG00642.hp1 HG01109.hp1 HG01884.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013	a0001c0001t0002g0003 a0001c0001t0005g0020 a0001c0001t0006g0037 others(1): Show a0001c0001t0002g0003 a0001c0001t0005g0020 a0001c0001t0006g0037 a0001c0001t0013g0041	4	68	0.0588	18	c.379 others(37): Show c.379+18906_379+18923dupTATATATATATATATATA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	3/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	132638186	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0056 a0001c0001t0011g0056	1	68	0.0147	18	c.379 others(37): Show c.379+18900_379+18901insGTATATATATATATATAT	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	3/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	132652349	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0062 a0001c0001t0031g0062	1	68	0.0147	18	c.379 others(35): Show c.379+4720_379+4737dupGTGTGTGTGTGTGTGTGT	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	3/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	132659704	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0062 a0001c0001t0031g0062	1	68	0.0147	18	c.147 others(35): Show c.147-2403_147-2386dupCACACACACACACACACA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	2/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	132669172	T T	TTCCAAGA others(11): Show TTCCAAGAAAAGGACGCTG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0036 a0001c0001t0021g0036	1	68	0.0147	18	c.147 others(37): Show c.147-11854_147-11853insCAGCGTCCTTTTCTTGGA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	2/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	132782917	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01978.hp2 HG01071.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0004 a0001c0001t0015	a0001c0001t0004g0018 a0001c0001t0015g0043 a0001c0001t0004g0018 a0001c0001t0015g0043	2	68	0.0294	18	c.147 others(39): Show c.147-125599_147-125598insTATATATATATATATACA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	2/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	132850516	G G	GGAGTGTG others(11): Show GGAGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	1	68	0.0147	18	c.146 others(37): Show c.146+92409_146+92410insACACACACACACACACTC	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	2/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133125716	T T	TACATGTA others(11): Show TACATGTATATATAGACAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0057 a0001c0001t0011g0057	1	68	0.0147	18	c.62- others(37): Show c.62-182707_62-182706insGTGTCTATATATACATGT	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133140528	T T	TAAGAAGA others(11): Show TAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0017 a0001c0001t0014g0017	1	68	0.0147	18	c.62- others(37): Show c.62-197519_62-197518insCTTCTTCTTCTTCTTCTT	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133140531	T T	TAATAAGA others(11): Show TAATAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	68	0.0147	18	c.62- others(37): Show c.62-197522_62-197521insCTTCTTCTTCTTCTTATT	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133140531	T T	TAATAATA others(11): Show TAATAATAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA21309.hp2 HG03209.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0015 a0001c0001t0001g0028	2	68	0.0294	18	c.62- others(37): Show c.62-197522_62-197521insCTTCTTCTTCTTATTATT	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133140531	T T	TAATAATA others(11): Show TAATAATAATAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02615.hp2 HG02451.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0044 a0001c0001t0005g0025 a0001c0001t0003g0044 a0001c0001t0005g0025	2	68	0.0294	18	c.62- others(37): Show c.62-197522_62-197521insCTTCTTCTTATTATTATT	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133141018	C C	CGACGAAG others(11): Show CGACGAAGACGACGACGAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0059 a0001c0001t0028g0059	1	68	0.0147	18	c.62- others(37): Show c.62-198009_62-198008insTTCGTCGTCGTCTTCGTC	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133141089	A A	AAGAAGAA others(11): Show AAGAAGAAGAAGAAGAAGG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0048 a0001c0001t0004g0048	1	68	0.0147	18	c.62- others(37): Show c.62-198080_62-198079insCCTTCTTCTTCTTCTTCT	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133433251	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	68	0.0147	18	c.61+ others(35): Show c.61+98995_61+99012dupTTTTTTTTTTTTTTTTTT	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPHN1_chrX_68037344_68438495	68038102	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02965.hp1 HG02976.hp1 others(5): Show HG02257.hp2 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03516.hp2 NA18906.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0014 a0001c0001t0002g0021 a0001c0001t0002g0055 others(5): Show a0001c0001t0002g0014 a0001c0001t0002g0021 a0001c0001t0002g0055 a0001c0001t0002g0108 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0005g0138	8	155	0.0516	18	c.90 others(29): Show c.9069_*9070insTTCTTTCTTTCTTTCTTT	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding		4241		chrX	TogoVar
OPHN1_chrX_68037344_68438495	68084344	A A	AGGGGAGA others(11): Show AGGGGAGAGGGAGGAACGG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0003 a0001c0001t0019g0003	1	155	0.0065	18	c.168 others(39): Show c.1687-11063_1687-11046dupCCGTTCCTCCCTCTCCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	19/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68125930	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02145.hp1 HG02818.hp2 HG01255.hp1 HG02145.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0115 a0001c0001t0002g0125 a0001c0001t0008g0112 a0001c0001t0002g0115 a0001c0001t0002g0125 a0001c0001t0008g0112	3	155	0.0194	18	c.127 others(37): Show c.1277-6616_1277-6599dupATATATATATATATATAT	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	15/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68125954	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA20805.hp1 HG00621.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0149 a0001c0001t0001g0051 a0001c0001t0001g0149	2	155	0.0129	18	c.127 others(37): Show c.1277-6623_1277-6622insGTATATATATATATATAT	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	15/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68317379	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0119 a0001c0001t0016g0119	1	155	0.0065	18	c.155 others(37): Show c.155-18284_155-18283insTTCTTTCTTTCTTTCTTT	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68325689	T T	TCTCCCTC others(11): Show TCTCCCTCTCCCTCTCCCG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02280.hp2 HG02451.hp2 others(7): Show HG02135.hp1 HG02280.hp2 HG02451.hp2 HG02698.hp1 HG02723.hp1 HG02886.hp1 HG02922.hp2 NA18747.hp1 NA18948.hp1 NA18970.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0003c0004t0014	a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0052 others(7): Show a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0097 a0001c0001t0002g0083 a0001c0001t0003g0101 a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0012 a0003c0004t0014g0102	10	155	0.0645	18	c.155 others(37): Show c.155-26594_155-26593insCGGGAGAGGGAGAGGGAG	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68370011	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0150 a0001c0001t0021g0150	1	155	0.0065	18	c.154 others(37): Show c.154+62838_154+62855dupATATATATATATATATAT	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68426552	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0120 a0001c0001t0006g0121	2	155	0.0129	18	c.154 others(35): Show c.154+6297_154+6314dupTATATATATATATATATA	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar

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