Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NPIPB5_chr16_22505891_22541535	22534941	C C	CTTCCACC others(97): Show CTTCCACCCTCAGCGGATGATCTCAAGACACCTTCCGAGCGTCAGCTCAC TCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGATAC CTGCT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00621.hp1 HG00621.hp1	a0029 a0029	a0029c0003 a0029c0003	a0029c0003t0010 a0029c0003t0010	a0029c0003t0010g0043 a0029c0003t0010g0043	1	47	0.0213	104	c.195 others(113): Show c.1958_1959insTTCCACCCTCAGCGGATGATCTCAAGACACCTTCCG AGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGAT AATATCAAGATACCTGCT	p.Val others(5): Show p.Val655fs	NPIPB5	ENSG00000243716.12	transcript	ENST00000424340.7	protein_coding	7/7	4870/6463	1959/3402	653/1133			chr16	TogoVar
NPSR1_chr7_34653218_34854978	34792665	T T	TTATATAT others(97): Show TTATATATATGTATATATATATATTTATATATATATGTATATATATATAT TTATATATATATGTATATATATATATTTATATATATATGTATATATATAT ATTTA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01106.hp2 HG02080.hp1 others(10): Show HG00544.hp1 HG01106.hp2 HG02080.hp1 HG03688.hp2 NA18954.hp2 NA18968.hp2 NA18971.hp1 NA18981.hp2 NA19000.hp1 NA19007.hp1 NA19054.hp2 NA19072.hp1 NA19079.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0014	a0001c0009 a0003c0010 a0006c0006 others(1): Show a0001c0009 a0003c0010 a0006c0006 a0014c0029	a0001c0009t0001 a0003c0010t0004 a0006c0006t0001 others(2): Show a0001c0009t0001 a0003c0010t0004 a0006c0006t0001 a0006c0006t0004 a0014c0029t0001	a0001c0009t0001g0058 a0001c0009t0001g0074 a0003c0010t0004g0048 others(10): Show a0001c0009t0001g0058 a0001c0009t0001g0074 a0003c0010t0004g0048 a0003c0010t0004g0049 a0003c0010t0004g0051 a0003c0010t0004g0060 a0003c0010t0004g0077 a0006c0006t0001g0047 a0006c0006t0001g0067 a0006c0006t0001g0068 a0006c0006t0001g0087 a0006c0006t0004g0045 a0014c0029t0001g0070	13	260	0.0500	104	c.384 others(123): Show c.384+14123_384+14124insTTATATATATATGTATATATATATAT TTATATATATATGTATATATATATATTTATATATATATGTATATATATAT ATTTATATATATATGTATATATATATAT		NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
NPSR1_chr7_34653218_34854978	34792687	A A	ATTTATAT others(97): Show ATTTATATATATATACGTATATATATATATTTATATATATATACGTATAT ATATATATATACGTATATATATATATTTATATATATATACGTATATATAT ATATT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03225.hp2 HG03098.hp1 HG03225.hp2	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0002 a0013c0015t0002	a0013c0015t0002g0168 a0013c0015t0002g0169 a0013c0015t0002g0168 a0013c0015t0002g0169	2	260	0.0077	104	c.384 others(123): Show c.384+14123_384+14124insTTATATATATATACGTATATATATAT ATTTATATATATATACGTATATATATATATATACGTATATATATATATTT ATATATATATACGTATATATATATATTT		NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
NPSR1_chr7_34653218_34854978	34792703	A A	ATATATAT others(97): Show ATATATATATATTTATATATATATGTATATATATATATTTATATATATAT GTATATATATATATTTATATATATATGTATATATATATATTTATATATAT ATGTG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0145 a0006c0006t0002g0145	1	260	0.0039	104	c.384 others(123): Show c.384+14161_384+14162insGTATATATATATATTTATATATATAT GTATATATATATATTTATATATATATGTATATATATATATTTATATATAT ATGTGTATATATATATTTATATATATAT		NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
NTM_chr11_131365615_132341822	132071263	C C	CACTGACC others(97): Show CACTGACCGTCACAGGTTAGTTAACACGTCACACAGCCAGGTTAGCACGT CACACTGAGAATCACAGGTTAGTTAACACGTCACACAGTCAAGTTAACAC GTCAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03471.hp2 HG01243.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0002 a0001c0001t0004g0005 a0001c0001t0001g0002 a0001c0001t0004g0005	2	86	0.0233	104	c.168 others(123): Show c.168-75012_168-75011insGTCACAGGTTAGTTAACACGTCACAC AGCCAGGTTAGCACGTCACACTGAGAATCACAGGTTAGTTAACACGTCAC ACAGTCAAGTTAACACGTCAAACTGACC		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
NTN4_chr12_95652807_95795764	95655342	C C	CATGTTGG others(97): Show CATGTTGGGATGATGGGATGATGGGATATTGGGATGATGGGATGTTGGGA TGATGGGATGTTGGGATGTTGGGATGTTGGGATGACGAGATGTTGGGATG TTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	324	0.0031	104	c.37 others(115): Show c.3743_*3744insCCCAACATCCCAACATCTCGTCATCCCAACATCC CAACATCCCAACATCCCATCATCCCAACATCCCATCATCCCAATATCCCA TCATCCCATCATCCCAACAT		NTN4	ENSG00000074527.13	transcript	ENST00000343702.9	protein_coding					2464		chr12	TogoVar
NTN4_chr12_95652807_95795764	95655346	T T	TTGGGATG others(97): Show TTGGGATGATGGGATGATGGGATATTGGGATGATGGGATGTTGGGATGAT GGGATGTTGGGATGTTGGGATGTTGGGATGACGAGATGTTGGGATGTTGG GATGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0084 a0001c0001t0023g0084	1	324	0.0031	104	c.37 others(115): Show c.3739_*3740insTCATCCCAACATCCCAACATCTCGTCATCCCAAC ATCCCAACATCCCAACATCCCATCATCCCAACATCCCATCATCCCAATAT CCCATCATCCCATCATCCCA		NTN4	ENSG00000074527.13	transcript	ENST00000343702.9	protein_coding					2460		chr12	TogoVar
NTNG2_chr9_132157058_132249526	132173939	G G	GCACCATG others(97): Show GCACCATGCTGCGGATGAGATGGATGGACAGACGAACGAACAGGCAGGCA GGTCGAACCATGCTACGGATGAGACGGACGGATGGACGGACAGGCAGGCA GGCCA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0281 a0001c0001t0002g0281	1	358	0.0028	104	c.213 others(121): Show c.213+6931_213+6932insGAACAGGCAGGCAGGTCGAACCATGCTA CGGATGAGACGGACGGATGGACGGACAGGCAGGCAGGCCACACCATGCTG CGGATGAGATGGATGGACAGACGAAC		NTNG2	ENSG00000196358.12	transcript	ENST00000393229.4	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
NTNG2_chr9_132157058_132249526	132173939	G G	GCACCATG others(97): Show GCACCATGCTGCGGATGAGATGGATGGACAGACGAACGGACAGGCAGGCA GGTCGAACCATGCTACGGATGAGACGGACGGATGGACGGACAGGCAGGCA GGCCA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00558.hp2 others(114): Show HG00140.hp2 HG00280.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01516.hp1 HG01891.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG02015.hp1 HG02027.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG04199.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18939.hp1 NA18943.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18960.hp1 NA18961.hp2 NA18963.hp1 NA18967.hp2 NA18977.hp1 NA18977.hp2 NA18986.hp1 NA18986.hp2 NA18999.hp2 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp2 NA19063.hp1 NA19064.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19090.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0014 a0001c0015 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0036 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0009 a0001c0002t0014 a0001c0002t0044 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0010 a0001c0003t0014 a0001c0003t0026 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0012 a0001c0004t0041 a0001c0004t0047 a0001c0004t0053 a0001c0005t0001 a0001c0005t0002 a0001c0005t0006 a0001c0005t0008 a0001c0005t0009 a0001c0005t0040 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0006t0031 a0001c0014t0001 a0001c0015t0052 a0004c0009t0001	a0001c0001t0001g0343 a0001c0001t0001g0346 a0001c0001t0002g0020 others(113): Show a0001c0001t0001g0343 a0001c0001t0001g0346 a0001c0001t0002g0020 a0001c0001t0002g0344 a0001c0001t0002g0348 a0001c0001t0003g0283 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0004g0260 a0001c0001t0005g0234 a0001c0001t0005g0246 a0001c0001t0005g0265 a0001c0001t0005g0266 a0001c0001t0012g0125 a0001c0001t0012g0257 a0001c0001t0013g0263 a0001c0001t0013g0264 a0001c0001t0036g0285 a0001c0002t0001g0253 a0001c0002t0001g0262 a0001c0002t0001g0282 a0001c0002t0001g0289 a0001c0002t0001g0307 a0001c0002t0001g0312 a0001c0002t0001g0333 a0001c0002t0001g0336 a0001c0002t0001g0337 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0255 a0001c0002t0002g0272 a0001c0002t0002g0325 a0001c0002t0002g0350 a0001c0002t0002g0352 a0001c0002t0004g0240 a0001c0002t0004g0252 a0001c0002t0004g0254 a0001c0002t0004g0256 a0001c0002t0004g0259 a0001c0002t0004g0261 a0001c0002t0004g0345 a0001c0002t0004g0351 a0001c0002t0004g0353 a0001c0002t0008g0319 a0001c0002t0009g0304 a0001c0002t0014g0294 a0001c0002t0044g0274 a0001c0003t0001g0149 a0001c0003t0001g0267 a0001c0003t0001g0275 a0001c0003t0001g0278 a0001c0003t0001g0288 a0001c0003t0001g0296 a0001c0003t0001g0299 a0001c0003t0001g0306 a0001c0003t0001g0326 a0001c0003t0001g0327 a0001c0003t0001g0328 a0001c0003t0001g0330 a0001c0003t0001g0332 a0001c0003t0001g0334 a0001c0003t0002g0248 a0001c0003t0002g0309 a0001c0003t0002g0310 a0001c0003t0002g0311 a0001c0003t0002g0318 a0001c0003t0002g0339 a0001c0003t0002g0342 a0001c0003t0003g0002 a0001c0003t0003g0201 a0001c0003t0010g0313 a0001c0003t0010g0314 a0001c0003t0010g0315 a0001c0003t0010g0316 a0001c0003t0014g0293 a0001c0003t0014g0297 a0001c0003t0026g0308 a0001c0004t0001g0305 a0001c0004t0001g0317 a0001c0004t0001g0324 a0001c0004t0001g0331 a0001c0004t0002g0247 a0001c0004t0002g0323 a0001c0004t0002g0335 a0001c0004t0002g0338 a0001c0004t0003g0118 a0001c0004t0003g0202 a0001c0004t0003g0273 a0001c0004t0012g0279 a0001c0004t0041g0249 a0001c0004t0047g0322 a0001c0004t0053g0298 a0001c0005t0001g0269 a0001c0005t0001g0270 a0001c0005t0001g0277 a0001c0005t0001g0329 a0001c0005t0002g0290 a0001c0005t0002g0291 a0001c0005t0002g0303 a0001c0005t0002g0341 a0001c0005t0006g0218 a0001c0005t0008g0349 a0001c0005t0009g0356 a0001c0005t0040g0239 a0001c0006t0001g0271 a0001c0006t0001g0284 a0001c0006t0001g0295 a0001c0006t0002g0292 a0001c0006t0002g0354 a0001c0006t0003g0347 a0001c0006t0031g0268 a0001c0014t0001g0287 a0001c0015t0052g0203 a0004c0009t0001g0355	117	358	0.3268	104	c.213 others(121): Show c.213+6931_213+6932insGGACAGGCAGGCAGGTCGAACCATGCTA CGGATGAGACGGACGGATGGACGGACAGGCAGGCAGGCCACACCATGCTG CGGATGAGATGGATGGACAGACGAAC		NTNG2	ENSG00000196358.12	transcript	ENST00000393229.4	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
NTSR1_chr20_62703836_62767771	62755221	T T	TTCTCTCC others(97): Show TTCTCTCCCTCCTTCCCTCCATTCACTCCTCTACCTCTCCCTCCATCCAT CCCTCTCTCCCTCCTTCCCTCCATTCACTCCTCTACCTCTCCCTCCATCC ATCCC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0291 a0001c0001t0045g0291	1	316	0.0032	104	c.916 others(119): Show c.916+411_916+412insCTCCTCTACCTCTCCCTCCATCCATCCCTC TCTCCCTCCTTCCCTCCATTCACTCCTCTACCTCTCCCTCCATCCATCCC TCTCTCCCTCCTTCCCTCCATTCA		NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
NTS_chr12_85869295_85887992	85879153	T T	TTTTTATG others(97): Show TTTTTATGTATATTTTATGTACGTAAAATATATTTTATGTATATTTTATG TACGTAAAATATATTTTATGTATATTTTATGTATATTTTATGTACGTAAA ATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01256.hp2 HG01258.hp1 others(1): Show HG00323.hp1 HG01256.hp2 HG01258.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	4	420	0.0095	104	c.360 others(119): Show c.360+619_360+620insATGTATATTTTATGTACGTAAAATATATTT TATGTATATTTTATGTATATTTTATGTACGTAAAATATATTTTATGTATA TTTTATGTACGTAAAATATATTTT		NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr12	TogoVar
NTS_chr12_85869295_85887992	85879718	T T	TTTTTTGT others(97): Show TTTTTTGTATATTTTATGTATATTTTATGTATATAAAATATACTTTTTGT ATATTTTATGTATATAAAATATACTTTTTGTATATTTTATGTATATAAAA TATAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02647.hp1 HG02280.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	2	420	0.0048	104	c.360 others(121): Show c.360+1171_360+1172insTTTATGTATATAAAATATACTTTTTGTA TATTTTATGTATATAAAATATACTTTTTGTATATTTTATGTATATAAAAT ATACTTTTTGTATATTTTATGTATAT		NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr12	TogoVar
NUP205_chr7_135552917_135653753	135570788	T T	TAATATAT others(97): Show TAATATATATTATATTAATATATATTGATTATATTAATATATATTATATT AATATATATTAATTATATTAATATATATTATATTAATATATATTAATTAT ATTAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03654.hp1 HG03834.hp2 HG01361.hp2 HG03654.hp1 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0191 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0191 a0001c0002t0001g0193 a0001c0002t0001g0194	3	352	0.0085	104	c.29- others(117): Show c.29-317_29-316insAATATATATTATATTAATATATATTGATTATA TTAATATATATTATATTAATATATATTAATTATATTAATATATATTATAT TAATATATATTAATTATATTAA		NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42						chr7	TogoVar
NUP210L_chr1_153987690_154160073	154125622	A A	AAAGGAAG others(97): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG04199.hp1 HG02486.hp2 HG04199.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0083 a0003c0004t0001g0082 a0001c0001t0001g0083 a0003c0004t0001g0082	2	290	0.0069	104	c.132 others(121): Show c.1326+597_1326+700dupCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTT		NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	10/39						chr1	TogoVar
NUP62CL_chrX_107118427_107211433	107204721	T T	TTTATTTA others(97): Show TTTATTTAAATAAATTTTAAATAAATTATTTATTTAAATAAATTTTAAAT AAATTATTTATTTAAATAAATTTTAAATAAATTATTTAAATAAATTTTAA ATAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249	3	280	0.0107	104	c.-92 others(121): Show c.-92+1551_-92+1552insTTTATTTAAAATTTATTTAAATAATTTA TTTAAAATTTATTTAAATAAATAATTTATTTAAAATTTATTTAAATAAAT AATTTATTTAAAATTTATTTAAATAA		NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	1/8						chrX	TogoVar
OBI1_chr13_78609289_78664155	78659300	A A	AAAAGAAA others(97): Show AAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	296	0.0034	104	c.-18 others(113): Show c.-181_-180insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTTCTTTCTTTCTTT		OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding					146		chr13	TogoVar
OBI1_chr13_78609289_78664155	78659323	A A	AGAAAGAA others(97): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	296	0.0034	104	c.-20 others(113): Show c.-204_-203insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTC		OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding					169		chr13	TogoVar
ODAD3_chr19_11415605_11440121	11424597	A A	ATATATAT others(97): Show ATATATATATGTGTATATATACCTATGTGTATATATGTATATATGTGTAT ATATACCTATGTGTATATATGTATATATGTGTATATATACCTATGTGTAT ATATG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02132.hp2 NA18942.hp2 HG00558.hp1 HG02132.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0121 a0001c0001t0001g0135 a0001c0001t0001g0108 a0001c0001t0001g0121 a0001c0001t0001g0135	3	398	0.0075	104	c.964 others(119): Show c.964-569_964-568insCATATATACACATAGGTATATATACACATA TATACATATATACACATAGGTATATATACACATATATACATATATACACA TAGGTATATATACACATATATATA		ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12						chr19	TogoVar
ODAD3_chr19_11415605_11440121	11424852	T T	TACCTATG others(97): Show TACCTATGTGTATATATGTATATATGTGTATATATACCTATGTGTATATA TGTATATATGTGTATATATACCTATGTGTATATATGTATATATGTGTATA TATAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	398	0.0025	104	c.964 others(119): Show c.964-824_964-823insGTATATATACACATATATACATATATACAC ATAGGTATATATACACATATATACATATATACACATAGGTATATATACAC ATATATACATATATACACATAGGT		ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12						chr19	TogoVar
ODAD3_chr19_11415605_11440121	11425196	T T	TGTATATA others(97): Show TGTATATATACATGTGTATATGTACACATGTGTATATGTACACATGTGTA TATGTACACATGTGTATATGTACATATGTGTATATGTACATATGTGTATA TATGC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	398	0.0025	104	c.963 others(119): Show c.963+947_963+948insGCATATATACACATATGTACATATACACAT ATGTACATATACACATGTGTACATATACACATGTGTACATATACACATGT GTACATATACACATGTATATATAC		ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12						chr19	TogoVar
OLA1_chr2_174067447_174253532	174164348	A A	AATACCAT others(97): Show AATACCATTCTGCATAGTGCAGAATGGATACCATTCTGCATAGTGCAGAA TGGATACCATTCTGCATAGTGCAGAATGGATACCATTCTGCATAGTGCAG AATGG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02257.hp2 HG02572.hp2 others(2): Show HG00558.hp1 HG02257.hp2 HG02572.hp2 HG03490.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0014 a0001c0001t0002 a0001c0001t0013 a0001c0001t0014	a0001c0001t0002g0183 a0001c0001t0013g0051 a0001c0001t0013g0053 others(2): Show a0001c0001t0002g0183 a0001c0001t0013g0051 a0001c0001t0013g0053 a0001c0001t0014g0023 a0001c0001t0014g0024	5	262	0.0191	104	c.374 others(123): Show c.374-22349_374-22348insCCATTCTGCACTATGCAGAATGGTAT CCATTCTGCACTATGCAGAATGGTATCCATTCTGCACTATGCAGAATGGT ATCCATTCTGCACTATGCAGAATGGTAT		OLA1	ENSG00000138430.16	transcript	ENST00000284719.8	protein_coding	4/10						chr2	TogoVar
OPRL1_chr20_64075082_64105633	64078177	C C	CCCAATAC others(97): Show CCCAATACCCCCGAGGCCTGGGCATGCAGAGGCCACTGCCCTGGCCCAAG TCTGGGGCAGGTGCAGCATCCCCTGGGACCTTGGCCCCTCACCACCGGCC CAGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01106.hp1 HG01106.hp2 others(28): Show HG00741.hp2 HG01106.hp1 HG01106.hp2 HG01169.hp1 HG01192.hp1 HG01496.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG02074.hp1 HG02074.hp2 HG02559.hp1 HG02602.hp1 HG02622.hp2 HG02738.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03453.hp1 HG03490.hp1 HG03579.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA19081.hp1 NA19081.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0003c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0020 a0001c0001t0021 a0001c0003t0004 a0001c0005t0006 a0001c0006t0005 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0022 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0004g0013 a0001c0001t0004g0020 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0005g0003 a0001c0001t0005g0015 a0001c0001t0006g0002 a0001c0001t0007g0004 a0001c0001t0007g0023 a0001c0001t0007g0031 a0001c0001t0008g0028 a0001c0001t0008g0030 a0001c0001t0012g0016 a0001c0001t0012g0017 a0001c0001t0020g0019 a0001c0001t0021g0014 a0001c0003t0004g0011 a0001c0005t0006g0012 a0001c0006t0005g0018 a0003c0004t0001g0029	31	66	0.4697	104	c.-23 others(115): Show c.-2360_-2359insCCAATACCCCCGAGGCCTGGGCATGCAGAGGCCA CTGCCCTGGCCCAAGTCTGGGGCAGGTGCAGCATCCCCTGGGACCTTGGC CCCTCACCACCGGCCCAGTT		OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding					1904		chr20	TogoVar
OPTN_chr10_13095163_13143308	13115253	T T	TTATATCT others(97): Show TTATATCTATATTTATATCTATATTTATATATATAAATATAGATATATCT ATATTTATATATATATAAATATAGATATATCTATATTTATATATATAAAT ATAGA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0045 a0001c0001t0005g0045	1	418	0.0024	104	c.553 others(119): Show c.553-997_553-996insCTATATTTATATATATAAATATAGATATAT CTATATTTATATATATATAAATATAGATATATCTATATTTATATATATAA ATATAGATATATCTATATTTATAT		OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
OPTN_chr10_13095163_13143308	13115253	T T	TTATATCT others(97): Show TTATATCTATATTTATATCTATATTTATATATATTTATAAATATAGATAT ATCTATATTTATATATATATAAATATAGATATATCTATATATATATAAAT ATAGA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01993.hp1 HG01981.hp2 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0354 a0001c0001t0005g0044 a0001c0001t0001g0354 a0001c0001t0005g0044	2	418	0.0048	104	c.553 others(119): Show c.553-997_553-996insCTATATTTATATATATTTATAAATATAGAT ATATCTATATTTATATATATATAAATATAGATATATCTATATATATATAA ATATAGATATATCTATATTTATAT		OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
OR11H4_chr14_20234286_20249349	20237832	A A	ATTTTATA others(97): Show ATTTTATAGTATATATAGTATATATACTATATAGTATATATTATATAGTA TATATACTATAAAGTACATAATTTATATATTACATATAATACATAATATA TATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	439	0.0023	104	c.-15 others(115): Show c.-1511_-1510insTTTTATAGTATATATAGTATATATACTATATAGT ATATATTATATAGTATATATACTATAAAGTACATAATTTATATATTACAT ATAATACATAATATATATTT		OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding					1453		chr14	TogoVar
OR1F1_chr16_3183204_3211556	3207165	G G	GGAGGGGA others(97): Show GGAGGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGG GAAATGGAGGAGAGGGGAGGGGAGGGAAATGGAGGAGGGGGAGGGGAGGG GAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01243.hp1 HG01361.hp2 others(23): Show HG00735.hp1 HG01243.hp1 HG01361.hp2 HG01517.hp2 HG01978.hp2 HG02055.hp2 HG02074.hp1 HG02080.hp2 HG02615.hp2 HG02683.hp2 HG02698.hp2 HG03195.hp1 HG03490.hp1 HG03492.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG04204.hp1 NA18951.hp2 NA18977.hp2 NA18980.hp2 NA18998.hp2 NA19030.hp2 NA20752.hp2 NA20905.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0011 a0001c0001 a0008c0011	a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 others(3): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0016 a0001c0001t0018 a0008c0011t0035	a0001c0001t0003g0023 a0001c0001t0003g0145 a0001c0001t0003g0191 others(21): Show a0001c0001t0003g0023 a0001c0001t0003g0145 a0001c0001t0003g0191 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0218 a0001c0001t0003g0257 a0001c0001t0003g0271 a0001c0001t0007g0087 a0001c0001t0007g0106 a0001c0001t0007g0107 a0001c0001t0007g0108 a0001c0001t0007g0109 a0001c0001t0007g0148 a0001c0001t0010g0243 a0001c0001t0010g0256 a0001c0001t0016g0066 a0001c0001t0016g0211 a0001c0001t0018g0031 a0008c0011t0035g0065	26	328	0.0793	104	c.19 others(115): Show c.1980_*1981insGAGGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGG AGAGGGGAGGGGAGGGAAATGGAGGAGAGGGGAGGGGAGGGAAATGGAGG AGGGGGAGGGGAGGGGAGGA		OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding					610		chr16	TogoVar
OR1F1_chr16_3183204_3211556	3207170	G G	GGAAGGGA others(97): Show GGAAGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGGGAAAT GGAGGAGAGGGGAGGGGAGGGAAATGGAGGAGGGGGAGGGGAGGGGAGGG GAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01081.hp1 HG01258.hp2 others(25): Show HG00280.hp2 HG01081.hp1 HG01258.hp2 HG02071.hp1 HG02300.hp2 HG02486.hp2 HG02922.hp1 HG03486.hp2 HG03516.hp2 NA18612.hp2 NA18942.hp1 NA18944.hp1 NA18954.hp2 NA18960.hp1 NA18964.hp2 NA18985.hp2 NA18995.hp1 NA18995.hp2 NA19005.hp2 NA19009.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp2 NA19068.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0012 a0009c0013 a0001c0001 a0001c0012 a0009c0013	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 others(6): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 a0001c0001t0019 a0001c0001t0031 a0001c0001t0032 a0001c0012t0002 a0009c0013t0002	a0001c0001t0002g0015 a0001c0001t0002g0026 a0001c0001t0002g0028 others(23): Show a0001c0001t0002g0015 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0166 a0001c0001t0002g0221 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0245 a0001c0001t0002g0254 a0001c0001t0002g0270 a0001c0001t0002g0277 a0001c0001t0008g0027 a0001c0001t0008g0213 a0001c0001t0008g0248 a0001c0001t0008g0276 a0001c0001t0009g0242 a0001c0001t0017g0061 a0001c0001t0019g0158 a0001c0001t0031g0103 a0001c0001t0032g0027 a0001c0012t0002g0207 a0009c0013t0002g0026	28	328	0.0854	104	c.19 others(115): Show c.1985_*1986insGAAGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGG GGAGGGGAGGGAAATGGAGGAGAGGGGAGGGGAGGGAAATGGAGGAGGGG GAGGGGAGGGGAGGGGAGGA		OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding					615		chr16	TogoVar
OR2S2_chr9_35952108_35963154	35952899	T T	TTCTTTCC others(97): Show TTCTTTCCTTGTCTCTCCCTCTCCTCCTCTTTCCTTGTCTCTCCCTCTCC TCCTCTTTCCTTGTCTCTCCCTCTCCTCCTCTTTCCTTGTCTCTCCCTCT CCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00423.hp1 others(112): Show HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01346.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01978.hp1 HG02015.hp2 HG02083.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02273.hp1 HG02486.hp1 HG02622.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp2 NA18948.hp2 NA18950.hp2 NA18953.hp1 NA18959.hp2 NA18962.hp2 NA18963.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18974.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp2 NA18985.hp2 NA18989.hp2 NA18991.hp1 NA18992.hp2 NA18995.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19055.hp2 NA19057.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19077.hp2 NA19080.hp1 NA19084.hp1 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19240.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0008 a0009 a0010	a0001c0001 a0002c0002 a0004c0004 others(3): Show a0001c0001 a0002c0002 a0004c0004 a0008c0007 a0009c0010 a0010c0014	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0008c0007t0001 a0009c0010t0001 a0010c0014t0001	a0001c0001t0001g0000 a0002c0002t0001g0000 a0004c0004t0001g0000 others(3): Show a0001c0001t0001g0000 a0002c0002t0001g0000 a0004c0004t0001g0000 a0008c0007t0001g0000 a0009c0010t0001g0000 a0010c0014t0001g0000	115	448	0.2567	104	c.42 others(115): Show c.4239_*4240insGGAGGAGAGGGAGAGACAAGGAAAGAGGAGGAGA GGGAGAGACAAGGAAAGAGGAGGAGAGGGAGAGACAAGGAAAGAGGAGGA GAGGGAGAGACAAGGAAAGA		OR2S2	ENSG00000278889.4	transcript	ENST00000341959.2	protein_coding					4208		chr9	TogoVar
OR2T12_chr1_248285139_248308424	248306592	C C	CCCTGAGG others(97): Show CCCTGAGGACTGGAGCCGCCCTGAGGACAGGAGCCGCCTGAGGACTGGAA CCCCCTGAGGACTGGAGCCGCCCTGAGGACAGGAGCCGCCTGAGGACTGG AGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG04204.hp1 HG00738.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	406	0.0049	104	c.-34 others(115): Show c.-3437_-3436insCGGCTCCAGTCCTCAGGCGGCTCCTGTCCTCAGG GCGGCTCCAGTCCTCAGGGGGTTCCAGTCCTCAGGCGGCTCCTGTCCTCA GGGCGGCTCCAGTCCTCAGG		OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding					3169		chr1	TogoVar
OR2T12_chr1_248285139_248308424	248306695	G G	GCCTGAGG others(97): Show GCCTGAGGACTGGAGCCGCCTGAGGACTGGAACCCCCTGAGGACTGGAGC CGCCCTGAGGACTGGAGCCGCCTGAGGACTGGAACCCCCTGAGGACTGGA GCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0016 a0016	a0016c0018 a0016c0018	a0016c0018t0015 a0016c0018t0015	a0016c0018t0015g0059 a0016c0018t0015g0059	1	406	0.0025	104	c.-35 others(115): Show c.-3540_-3539insGCGGCTCCAGTCCTCAGGGGGTTCCAGTCCTCAG GCGGCTCCAGTCCTCAGGGCGGCTCCAGTCCTCAGGGGGTTCCAGTCCTC AGGCGGCTCCAGTCCTCAGG		OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding					3272		chr1	TogoVar
OR2T12_chr1_248285139_248308424	248306712	G G	GCCCTGAG others(97): Show GCCCTGAGGACAGGAGCCGCCTGAGGACTGGAACCCCCTGAGGACTGGAG CCGCCCTGAGGACAGGAGCCGCCTGAGGACTGGAGCTGCCTGAGGACTGG AGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0015 a0015	a0015c0015 a0015c0015	a0015c0015t0018 a0015c0015t0018	a0015c0015t0018g0117 a0015c0015t0018g0117	1	406	0.0025	104	c.-35 others(115): Show c.-3557_-3556insGGGCTCCAGTCCTCAGGCAGCTCCAGTCCTCAGG CGGCTCCTGTCCTCAGGGCGGCTCCAGTCCTCAGGGGGTTCCAGTCCTCA GGCGGCTCCTGTCCTCAGGG		OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding					3289		chr1	TogoVar
OR4X1_chr11_48258861_48269778	48268292	C C	CTTTTATT others(97): Show CTTTTATTTTATTTTATTTTATATTTTATTTTATTTTATTTTATTTTATT TTATTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATATTTTATT TTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 NA18999.hp1 HG02083.hp1 NA18999.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0000 a0003c0003t0000 a0002c0002t0000 a0003c0003t0000	a0002c0002t0000g0000 a0003c0003t0000g0000 a0002c0002t0000g0000 a0003c0003t0000g0000	2	402	0.0050	104	c.35 others(115): Show c.3514_*3515insTTTTATTTTATTTTATTTTATATTTTATTTTATT TTATTTTATTTTATTTTATTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATATTTTATTTTATT		OR4X1	ENSG00000176567.1	transcript	ENST00000320048.1	protein_coding					3515		chr11	TogoVar
OR4X1_chr11_48258861_48269778	48268292	C C	CTTTTATT others(97): Show CTTTTATTTTATTTTATTTTATATTTTATTTTATTTTATTTTATTTTATT TTATTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATATT TTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00423.hp2 others(40): Show HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00597.hp1 HG00733.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG02056.hp2 HG02109.hp2 HG02258.hp1 HG02273.hp2 HG02698.hp1 HG03492.hp2 HG03834.hp2 HG04115.hp1 HG04184.hp2 NA18941.hp1 NA18949.hp2 NA18956.hp1 NA18961.hp1 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18972.hp1 NA18986.hp2 NA18999.hp2 NA19001.hp2 NA19057.hp1 NA19057.hp2 NA19077.hp2 NA19084.hp1 NA19086.hp2 NA19087.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0011 a0002 a0003 a0011	a0002c0002 a0003c0003 a0011c0015 a0002c0002 a0003c0003 a0011c0015	a0002c0002t0000 a0003c0003t0000 a0011c0015t0000 a0002c0002t0000 a0003c0003t0000 a0011c0015t0000	a0002c0002t0000g0000 a0003c0003t0000g0000 a0011c0015t0000g0000 a0002c0002t0000g0000 a0003c0003t0000g0000 a0011c0015t0000g0000	43	402	0.1070	104	c.35 others(115): Show c.3514_*3515insTTTTATTTTATTTTATTTTATATTTTATTTTATT TTATTTTATTTTATTTTATTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATATTTTATT		OR4X1	ENSG00000176567.1	transcript	ENST00000320048.1	protein_coding					3515		chr11	TogoVar
OR4X1_chr11_48258861_48269778	48268292	C C	CTTTTATT others(97): Show CTTTTATTTTATTTTATTTTATATTTTATTTTATTTTATTTTATTTTATT TTATTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01074.hp1 HG01175.hp1 others(7): Show HG00642.hp1 HG01074.hp1 HG01175.hp1 HG02615.hp1 HG03471.hp1 HG03688.hp2 NA18945.hp2 NA18957.hp2 NA19043.hp1 NA19062.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0000 a0003c0003t0000 a0002c0002t0000 a0003c0003t0000	a0002c0002t0000g0000 a0003c0003t0000g0000 a0002c0002t0000g0000 a0003c0003t0000g0000	10	402	0.0249	104	c.35 others(115): Show c.3514_*3515insTTTTATTTTATTTTATTTTATATTTTATTTTATT TTATTTTATTTTATTTTATTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATATT		OR4X1	ENSG00000176567.1	transcript	ENST00000320048.1	protein_coding					3515		chr11	TogoVar
OR4X1_chr11_48258861_48269778	48268292	C C	CTTTTATT others(97): Show CTTTTATTTTATTTTATTTTATATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02300.hp1 HG02647.hp1 others(10): Show HG02071.hp2 HG02300.hp1 HG02647.hp1 HG03831.hp2 NA18747.hp2 NA18946.hp1 NA18956.hp2 NA18965.hp1 NA18992.hp1 NA19006.hp2 NA19070.hp1 NA19074.hp1 NA19085.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0000 a0003c0003t0000 a0002c0002t0000 a0003c0003t0000	a0002c0002t0000g0000 a0003c0003t0000g0000 a0002c0002t0000g0000 a0003c0003t0000g0000	13	402	0.0323	104	c.35 others(115): Show c.3514_*3515insTTTTATTTTATTTTATTTTATATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATATT		OR4X1	ENSG00000176567.1	transcript	ENST00000320048.1	protein_coding					3515		chr11	TogoVar
OR4X1_chr11_48258861_48269778	48268293	T T	TTTTATTT others(97): Show TTTTATTTTATTTTATTTTATATTTTATTTTATTTTATTTTATTTTATTT TATTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0000 a0003c0003t0000	a0003c0003t0000g0000 a0003c0003t0000g0000	1	402	0.0025	104	c.35 others(115): Show c.3515_*3516insTTTATTTTATTTTATTTTATATTTTATTTTATTT TATTTTATTTTATTTTATTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTA		OR4X1	ENSG00000176567.1	transcript	ENST00000320048.1	protein_coding					3516		chr11	TogoVar
OR52E8_chr11_5851749_5862690	5862487	A A	AACTTTGC others(97): Show AACTTTGCACAACACAAGAGCAATACTCAATCAGTTGTATTTTGCTGAAC ACTGGTGAAGAAAATTAATGAAGGTCTAAATAAATGGAAAAATATTTATG TTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	436	0.0023	104	c.-49 others(115): Show c.-4901_-4798dupATGAACATAAATATTTTTCCATTTATTTAGACCT TCATTAATTTTCTTCACCAGTGTTCAGCAAAATACAACTGATTGAGTATT GCTCTTGTGTTGTGCAAAGT		OR52E8	ENSG00000183269.6	transcript	ENST00000537935.2	protein_coding					4798		chr11	TogoVar
ORAI2_chr7_102428575_102461825	102430640	A A	AAGGGAAG others(97): Show AAGGGAAGGAAGGAACGAAGGAAGGAAAGGAAGGGAGGGAAGGGAGAGAA GGGAGGGAAGGAAGGAACGAAGGAAGGAAAGGAAGGGAGGGAAGGGAGAG AAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0004	1	404	0.0025	104	c.-31 others(115): Show c.-3144_-3143insAGGGAAGGAAGGAACGAAGGAAGGAAAGGAAGGG AGGGAAGGGAGAGAAGGGAGGGAAGGAAGGAACGAAGGAAGGAAAGGAAG GGAGGGAAGGGAGAGAAGGG		ORAI2	ENSG00000160991.17	transcript	ENST00000495936.7	protein_coding					2934		chr7	TogoVar
ORC5_chr7_104121341_104213013	104124116	A A	AGACAGTA others(97): Show AGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGTGGGGACTA CTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAGTCTGAGGA TGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00597.hp1 others(95): Show HG00099.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG01934.hp2 HG01981.hp1 HG02004.hp1 HG02074.hp2 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02273.hp2 HG02300.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp2 HG02622.hp2 HG02698.hp2 HG02717.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03540.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04204.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18963.hp1 NA18967.hp2 NA18968.hp1 NA18971.hp1 NA18977.hp1 NA18979.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18992.hp1 NA19000.hp1 NA19001.hp1 NA19004.hp2 NA19009.hp1 NA19030.hp1 NA19043.hp1 NA19057.hp2 NA19063.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0005 others(1): Show a0001c0001 a0001c0002 a0003c0005 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0003c0005t0001 a0004c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(82): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0081 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0002g0196 a0001c0001t0002g0285 a0001c0002t0001g0085 a0003c0005t0001g0172 a0004c0004t0001g0171	98	366	0.2678	104	c.27 others(115): Show c.2731_*2732insCGTCATCCTCAGACTGTGGTCTGAAAATATTAAA TGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCATGATACTGCTTT CCTTGAGTTCAGTTACTGTC		ORC5	ENSG00000164815.11	transcript	ENST00000297431.9	protein_coding					2224		chr7	TogoVar
ORC5_chr7_104121341_104213013	104124160	G G	GGACTACT others(97): Show GGACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAGTC TGAGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAA GTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0288 a0001c0001t0002g0288	1	366	0.0027	104	c.26 others(115): Show c.2687_*2688insTCCACTTACCCATGATACTGCTTTCCTTGAGTTC AGTTACTGTCCGTCATCCTCAGACTGTGGTCTGAAAATATTAAATGGAAA ACACCAGAAATACAGTAGTC		ORC5	ENSG00000164815.11	transcript	ENST00000297431.9	protein_coding					2180		chr7	TogoVar
ORC5_chr7_104121341_104213013	104124367	G G	GGGACTAC others(97): Show GGGACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAGT CTGAGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTA AGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	366	0.0027	104	c.24 others(115): Show c.2480_*2481insTCACTTACCCATGATACTGCTTTCCTTGAGTTCA GTTACTGTCCGTCATCCTCAGACTGTGGTCTGAAAATATTAAATGGAAAA CACCAGAAATACAGTAGTCC		ORC5	ENSG00000164815.11	transcript	ENST00000297431.9	protein_coding					1973		chr7	TogoVar
OSTF1_chr9_75083514_75152265	75139056	T T	TTCTTTCT others(97): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTTCTTTCTTCTTTCTTTCTTTTCTTTCTTTCTTTT CTTTC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0084 a0001c0001t0013g0084	1	366	0.0027	104	c.487 others(121): Show c.487+1441_487+1442insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTCTTTCT TTCTTTTCTTTCTTTCTTTTCTTTCT		OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr9	TogoVar
OXTR_chr3_8745381_8774613	8773262	A A	ATATATAT others(97): Show ATATATATCTATATATATAATCTATATATATCTATATCTATATAATCTAT ATATATCTATATATATAATCTATATATATCTATATCTATATAATCTATAT ATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG02027.hp2 HG02735.hp1 others(11): Show HG00609.hp2 HG02027.hp2 HG02735.hp1 HG02886.hp1 HG02976.hp2 NA18948.hp2 NA18954.hp1 NA18963.hp2 NA18972.hp2 NA18986.hp1 NA19004.hp1 NA19055.hp1 NA19062.hp1 NA19084.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0012 a0002c0003 others(2): Show a0001c0001 a0001c0012 a0002c0003 a0003c0009 a0005c0015	a0001c0001t0001 a0001c0001t0003 a0001c0012t0013 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0012t0013 a0002c0003t0002 a0003c0009t0040 a0005c0015t0001	a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0020 others(8): Show a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0037 a0001c0001t0001g0137 a0001c0001t0003g0239 a0001c0012t0013g0308 a0002c0003t0002g0056 a0003c0009t0040g0094 a0005c0015t0001g0123	14	474	0.0295	104	c.-42 others(115): Show c.-4271_-4270insGATATATATAGATTATATAGATATAGATATATAT AGATTATATATATAGATATATATAGATTATATAGATATAGATATATATAG ATTATATATATAGATATATA		OXTR	ENSG00000180914.11	transcript	ENST00000316793.8	protein_coding					3650		chr3	TogoVar
P2RY8_chrX_1457581_1542185	1468946	C C	CCCCTCCC others(97): Show CCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCTCTCCCCTCTCCC CTCCCCTTCCCTCTCCCCTCTCCCTCCCCTTCCCTCTCCCCTCTCCCCTC CCCTT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	114	0.0088	104	c.-24 others(121): Show c.-24-2365_-24-2364insAAGGGGAGGGGAGAGGGGAGAGGGAAGG GGAGGGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGAAGGGGAG GGGAGAGGGGAGAGGGAAGGGGAGGG		P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1						chrX	TogoVar
P2RY8_chrX_1457581_1542185	1532401	T T	TATATATG others(97): Show TATATATGTGTGTATATACACATATATGTATATATGTGTGTATATACACA TATATGTATATATGTGTGTATATACACATATATGTATATATGTGTGTATA TACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00099.hp2 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0030 a0001c0001t0002 a0001c0001t0030	a0001c0001t0002g0014 a0001c0001t0030g0013 a0001c0001t0002g0014 a0001c0001t0030g0013	2	114	0.0175	104	c.-25 others(121): Show c.-25+4519_-25+4520insGTGTATATACACACATATATACATATAT GTGTATATACACACATATATACATATATGTGTATATACACACATATATAC ATATATGTGTATATACACACATATAT		P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1						chrX	TogoVar
P4HA2_chr5_132185147_132232853	132208400	G G	GAGGAGGG others(97): Show GAGGAGGGGGAGGGGAGGGGAGGAGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0263 a0001c0001t0002g0263	1	426	0.0024	104	c.904 others(119): Show c.904-517_904-516insTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CTCCTCCCCTCCCCTCCCCCTCCT		P4HA2	ENSG00000072682.20	transcript	ENST00000360568.8	protein_coding	7/14						chr5	TogoVar
P4HA2_chr5_132185147_132232853	132208400	G G	GAGGAGGG others(97): Show GAGGAGGGGGAGGGGAGGGGAGGAGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02970.hp2 NA18974.hp1 HG00438.hp2 HG02970.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0186 a0001c0001t0002g0255 a0001c0001t0006g0307 a0001c0001t0002g0186 a0001c0001t0002g0255 a0001c0001t0006g0307	3	426	0.0070	104	c.904 others(119): Show c.904-517_904-516insTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CTCCTCCCCTCCCCTCCCCCTCCT		P4HA2	ENSG00000072682.20	transcript	ENST00000360568.8	protein_coding	7/14						chr5	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCCCC others(97): Show TCCTCCCCTTCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCTCCCCCT CCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC ACTCC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01243.hp2 HG01081.hp2 HG01243.hp2	a0001 a0021 a0001 a0021	a0001c0001 a0021c0030 a0001c0001 a0021c0030	a0001c0001t0025 a0021c0030t0026 a0001c0001t0025 a0021c0030t0026	a0001c0001t0025g0247 a0021c0030t0026g0189 a0001c0001t0025g0247 a0021c0030t0026g0189	2	308	0.0065	104	c.226 others(123): Show c.2262+7532_2262+7533insTCCTCCCCTCCCCCTCCTCCCCTTCC TCCCCTCCTCCCCCTCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCACTCCCCTCCCCT		PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19					INFO_REALIGN_3_PRIME	chr10	TogoVar
PANX1_chr11_94123841_94186968	94137866	C C	CTATCTTG others(97): Show CTATCTTGGTCTGTTTTCCCCCAGGATAGATAGATAGATATATATATATA TATATATATATATATATATATATATATATATATATACAGTAACTTTTAAA AAGTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01256.hp1 HG01975.hp1 others(2): Show HG00597.hp2 HG01256.hp1 HG01975.hp1 NA19076.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0026 a0001c0001t0001 a0001c0001t0002 a0001c0001t0026	a0001c0001t0001g0117 a0001c0001t0002g0016 a0001c0001t0002g0115 others(1): Show a0001c0001t0001g0117 a0001c0001t0002g0016 a0001c0001t0002g0115 a0001c0001t0026g0116	5	408	0.0123	104	c.181 others(121): Show c.181+8374_181+8375insATCTTGGTCTGTTTTCCCCCAGGATAGA TAGATAGATATATATATATATATATATATATATATATATATATATATATA TATATACAGTAACTTTTAAAAAGTTT		PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
PANX1_chr11_94123841_94186968	94137866	C C	CTATCTTG others(97): Show CTATCTTGGTCTGTTTTCCCCCAGGATAGATAGATATATATATATATATA TATATATATATATATATATATATATATATATATATACAGTAACTTTTAAA AAGTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp1 HG00642.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	2	408	0.0049	104	c.181 others(121): Show c.181+8374_181+8375insATCTTGGTCTGTTTTCCCCCAGGATAGA TAGATATATATATATATATATATATATATATATATATATATATATATATA TATATACAGTAACTTTTAAAAAGTTT		PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr11	TogoVar

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Search Results (Total: 10000 hits)