Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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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
OTUD7A_chr15_31470398_31875673	31561784	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0098 a0001c0011t0098	a0001c0011t0098g0207 a0001c0011t0098g0207	1	244	0.0041	18	c.332 others(35): Show c.332-2615_332-2598dupTGTGTGTGTGTGTGTGTG	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	4/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31564387	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03486.hp2 HG03017.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0013 a0001c0015t0091 a0001c0001t0013 a0001c0015t0091	a0001c0001t0013g0170 a0001c0015t0091g0021 a0001c0001t0013g0170 a0001c0015t0091g0021	2	244	0.0082	18	c.332 others(35): Show c.332-5201_332-5200insAAAAAAAAAAAAAAAAAA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	4/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31592904	A A	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0086 a0001c0004t0018g0086	1	244	0.0041	18	c.152 others(37): Show c.152-22708_152-22707insATATATATATATTTTTTT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	3/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31610617	A A	ATATATAT others(11): Show ATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0087 a0001c0006t0087	a0001c0006t0087g0213 a0001c0006t0087g0213	1	244	0.0041	18	c.152 others(37): Show c.152-40421_152-40420insAAAAAAAATATATATATA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	3/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31610617	A A	ATATTTTT others(11): Show ATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0088 a0001c0006t0088	a0001c0006t0088g0221 a0001c0006t0088g0221	1	244	0.0041	18	c.152 others(37): Show c.152-40421_152-40420insAAAAAAAAAAAAAAAATA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	3/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31663246	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0076 a0003c0010t0076	a0003c0010t0076g0105 a0003c0010t0076g0105	1	244	0.0041	18	c.-99 others(35): Show c.-99-6187_-99-6170dupGTGTGTGTGTGTGTGTGT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31808136	C C	CACACACA others(11): Show CACACACACACACAAAAAA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	244	0.0041	18	c.-10 others(39): Show c.-100+62370_-100+62371insTTTTTTGTGTGTGTGTGT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31808136	C C	CACACACA others(11): Show CACACACACACACACAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG01071.hp1 HG00408.hp1 HG00544.hp2 HG01071.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0014 a0002c0003t0077 a0001c0001t0001 a0001c0001t0014 a0002c0003t0077	a0001c0001t0001g0236 a0001c0001t0014g0130 a0002c0003t0077g0143 a0001c0001t0001g0236 a0001c0001t0014g0130 a0002c0003t0077g0143	3	244	0.0123	18	c.-10 others(39): Show c.-100+62370_-100+62371insTTTTGTGTGTGTGTGTGT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31835730	G G	GTACACAC others(11): Show GTACACACATATATATACA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0020 a0001c0001t0080g0020	1	244	0.0041	18	c.-10 others(39): Show c.-100+34759_-100+34776dupTGTATATATATGTGTGTA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31860622	G G	GATAAATA others(11): Show GATAAATATACATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0017 a0002c0008t0017	a0002c0008t0017g0090 a0002c0008t0017g0090	1	244	0.0041	18	c.-10 others(37): Show c.-100+9884_-100+9885insATATATATGTATATTTAT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31860677	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01081.hp1 HG01978.hp2 others(4): Show HG00621.hp2 HG01081.hp1 HG01978.hp2 HG02451.hp2 NA18962.hp1 NA18992.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0001c0002t0026	a0001c0001t0001g0154 a0001c0001t0002g0146 a0001c0001t0006g0116 others(4): Show a0001c0001t0001g0154 a0001c0001t0002g0146 a0001c0001t0006g0116 a0001c0001t0006g0148 a0001c0001t0007g0147 a0001c0001t0014g0125 a0001c0002t0026g0014	7	244	0.0287	18	c.-10 others(37): Show c.-100+9812_-100+9829dupTATATATATATATATATA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31860677	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00544.hp1 others(29): Show HG00099.hp2 HG00423.hp1 HG00544.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00735.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01496.hp1 HG01517.hp1 HG01978.hp1 HG02080.hp1 HG02647.hp2 HG03017.hp2 HG03225.hp2 HG03831.hp2 HG04184.hp1 HG06807.hp2 NA18939.hp2 NA18943.hp1 NA18944.hp2 NA18966.hp1 NA18973.hp2 NA18980.hp2 NA18983.hp1 NA18986.hp1 NA18989.hp1 NA18995.hp2 NA19009.hp1 NA19083.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0013	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(14): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0013 a0001c0001t0015 a0001c0001t0028 a0001c0001t0055 a0001c0001t0058 a0001c0001t0059 a0001c0001t0061 a0001c0001t0064 a0001c0002t0001 a0001c0002t0029 a0001c0002t0030 a0002c0003t0003 a0002c0003t0008 a0004c0013t0004	a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 others(29): Show a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0194 a0001c0001t0004g0100 a0001c0001t0004g0169 a0001c0001t0004g0179 a0001c0001t0004g0191 a0001c0001t0007g0096 a0001c0001t0007g0186 a0001c0001t0013g0155 a0001c0001t0013g0170 a0001c0001t0015g0173 a0001c0001t0015g0174 a0001c0001t0028g0161 a0001c0001t0028g0177 a0001c0001t0055g0172 a0001c0001t0058g0182 a0001c0001t0059g0171 a0001c0001t0061g0183 a0001c0001t0064g0097 a0001c0002t0001g0099 a0001c0002t0001g0160 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0184 a0001c0002t0029g0235 a0001c0002t0030g0013 a0002c0003t0003g0162 a0002c0003t0003g0192 a0002c0003t0008g0098 a0004c0013t0004g0185	32	244	0.1312	18	c.-10 others(37): Show c.-100+9829_-100+9830insTATATATATATATATACA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31860677	G G	GTGTGTAT others(11): Show GTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	244	0.0041	18	c.-10 others(37): Show c.-100+9829_-100+9830insTATATATATATATACACA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31860697	A A	ATATATAT others(11): Show ATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA19090.hp1 NA18995.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0128 a0001c0002t0001g0129 a0001c0001t0001g0128 a0001c0002t0001g0129	2	244	0.0082	18	c.-10 others(37): Show c.-100+9809_-100+9810insCATATATATATATATATA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OTULINL_chr5_14576792_14621180	14618400	T T	TACACACA others(11): Show TACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	380	0.0026	18	c.80 others(29): Show c.8086_*8087insACACACACACACACACAC	OTULINL	ENSG00000145569.6	transcript	ENST00000274217.4	protein_coding		2221		chr5	TogoVar
OTULINL_chr5_14576792_14621180	14618402	T T	TACACACA others(11): Show TACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG03579.hp1 HG02055.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0227 a0001c0001t0003g0043 a0001c0001t0003g0227	2	380	0.0053	18	c.80 others(29): Show c.8088_*8089insACACACACACACACACAC	OTULINL	ENSG00000145569.6	transcript	ENST00000274217.4	protein_coding		2223		chr5	TogoVar
OTX1_chr2_63045830_63062831	63059973	T T	TCCACCCC others(11): Show TCCACCCCCACCCCAACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp2 HG02896.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0001 a0001c0001t0001g0023	2	366	0.0055	18	c.36 others(29): Show c.3657_*3658insCCACCCCCACCCCAACCC	OTX1	ENSG00000115507.10	transcript	ENST00000282549.7	protein_coding		2143		chr2	TogoVar
OVCH1_chr12_29434853_29502686	29501480	T T	TTCTAAGT others(11): Show TTCTAAGTGATGAATTGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0008 a0007c0007t0002g0008	1	400	0.0025	18	c.-37 others(29): Show c.-3795_-3794insTGCAATTCATCACTTAGA	OVCH1	ENSG00000187950.9	transcript	ENST00000537054.2	protein_coding		3795		chr12	TogoVar
OVGP1_chr1_111409319_111432735	111427809	T T	TACACACA others(11): Show TACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 NA18987.hp2 HG03491.hp1 NA18987.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0001 a0003c0003t0001g0018 a0001c0001t0001g0001 a0003c0003t0001g0018	2	424	0.0047	18	c.-89 others(25): Show c.-89_-88insGTGTGTGTGTGTGTGTGT	OVGP1	ENSG00000085465.13	transcript	ENST00000369732.4	protein_coding		75		chr1	TogoVar
OVGP1_chr1_111409319_111432735	111428787	A A	AATATATA others(11): Show AATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp2 HG01952.hp1 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0001 a0001c0001t0001g0006	2	424	0.0047	18	c.-10 others(29): Show c.-1067_-1066insATATATATATATATATAT	OVGP1	ENSG00000085465.13	transcript	ENST00000369732.4	protein_coding		1053		chr1	TogoVar
OVGP1_chr1_111409319_111432735	111428789	A A	AATATATA others(11): Show AATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp2 HG02080.hp2 others(4): Show HG01517.hp1 HG01517.hp2 HG02080.hp2 HG02135.hp1 HG03471.hp2 NA18983.hp2 NA19081.hp2	a0001 a0004 a0014 a0001 a0004 a0014	a0001c0001 a0004c0004 a0014c0024 a0001c0001 a0004c0004 a0014c0024	a0001c0001t0001 a0004c0004t0001 a0014c0024t0001 a0001c0001t0001 a0004c0004t0001 a0014c0024t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0032 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0032 a0004c0004t0001g0003 a0014c0024t0001g0108	7	424	0.0165	18	c.-10 others(29): Show c.-1069_-1068insATATATATATATATATAT	OVGP1	ENSG00000085465.13	transcript	ENST00000369732.4	protein_coding		1055		chr1	TogoVar
OVOL2_chr20_18019163_18062916	18034626	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03098.hp2 others(1): Show HG02895.hp2 HG02897.hp2 HG03098.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0329 others(1): Show a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0329 a0001c0002t0001g0331	4	386	0.0104	18	c.511 others(35): Show c.511+6890_511+6907dupGAGAGAGAGAGAGAGAGA	OVOL2	ENSG00000125850.11	transcript	ENST00000278780.7	protein_coding	3/3			chr20	TogoVar
OXCT1_chr5_41725065_41875425	41753274	C C	CACACACA others(11): Show CACACACACACACACATAG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0032 a0001c0001t0006g0032	1	200	0.0050	18	c.133 others(37): Show c.1339-3685_1339-3668dupCTATGTGTGTGTGTGTGT	OXCT1	ENSG00000083720.13	transcript	ENST00000196371.10	protein_coding	14/16			chr5	TogoVar
OXCT1_chr5_41725065_41875425	41767720	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02818.hp2 NA19009.hp2 HG02615.hp2 HG02818.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0177 a0001c0002t0001g0135 a0001c0002t0001g0137 a0001c0001t0002g0177 a0001c0002t0001g0135 a0001c0002t0001g0137	3	200	0.0150	18	c.124 others(37): Show c.1249-5521_1249-5520insTATATATATATATATATA	OXCT1	ENSG00000083720.13	transcript	ENST00000196371.10	protein_coding	13/16			chr5	TogoVar
OXR1_chr8_106265190_106757694	106339519	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	172	0.0058	18	c.-13 others(39): Show c.-138-19937_-138-19920dupTATATATATATATATATA	OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
OXR1_chr8_106265190_106757694	106341390	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03831.hp2 NA18939.hp2 others(7): Show HG02135.hp2 HG03831.hp2 NA18939.hp2 NA18941.hp2 NA18944.hp1 NA18974.hp1 NA18985.hp1 NA18991.hp2 NA19012.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0047 a0001c0001t0001g0066 a0001c0001t0001g0073 others(7): Show a0001c0001t0001g0047 a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0116 a0001c0001t0003g0049 a0001c0001t0003g0070 a0001c0002t0001g0050 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0065	10	172	0.0581	18	c.-13 others(39): Show c.-138-18069_-138-18068insTATATATATATATATATA	OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
OXR1_chr8_106265190_106757694	106420730	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	1	172	0.0058	18	c.23+ others(35): Show c.23+61106_23+61123dupGTGTGTGTGTGTGTGTGT	OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
OXR1_chr8_106265190_106757694	106582177	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02723.hp2 others(5): Show HG02145.hp1 HG02257.hp1 HG02723.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG03139.hp1 HG03225.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0002t0001 a0002c0003t0001 a0003c0004t0001	a0001c0001t0001g0054 a0001c0001t0009g0030 a0001c0001t0011g0079 others(5): Show a0001c0001t0001g0054 a0001c0001t0009g0030 a0001c0001t0011g0079 a0001c0001t0013g0040 a0001c0002t0001g0072 a0002c0003t0001g0031 a0002c0003t0001g0032 a0003c0004t0001g0069	8	172	0.0465	18	c.220 others(37): Show c.220+63047_220+63064dupATATATATATATATATAT	OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
OXR1_chr8_106265190_106757694	106671044	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02615.hp2 HG02717.hp1 others(6): Show HG01346.hp2 HG02615.hp2 HG02717.hp1 HG02886.hp1 HG02965.hp1 HG03139.hp2 HG03492.hp2 NA19043.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 others(6): Show a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0091 a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0001g0160 a0001c0001t0001g0170 a0003c0004t0001g0069	9	172	0.0523	18	c.221 others(35): Show c.221-8164_221-8147dupAAAAAAAAAAAAAAAAAA	OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
OXR1_chr8_106265190_106757694	106739075	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	172	0.0058	18	c.203 others(35): Show c.2038-355_2038-338dupCACACACACACACACACA	OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
OXSR1_chr3_38160537_38260484	38244637	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0199 a0002c0002t0017g0199	1	248	0.0040	18	c.111 others(37): Show c.1111-1425_1111-1408dupTGTGTGTGTGTGTGTGTG	OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
OXSR1_chr3_38160537_38260484	38244666	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0041 a0002c0002t0001g0013 a0002c0002t0001g0041	2	248	0.0081	18	c.111 others(37): Show c.1111-1408_1111-1407insTGTGTGTGTGTGTGCGCG	OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
OXSR1_chr3_38160537_38260484	38244666	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(25): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00544.hp1 HG00609.hp1 HG00621.hp2 HG01071.hp1 HG01081.hp2 HG01106.hp2 HG01255.hp2 HG01256.hp1 HG01433.hp1 HG01515.hp1 HG01934.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02293.hp2 HG03516.hp2 HG03927.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18960.hp1 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0002c0002t0001 a0002c0002t0021	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0078 others(25): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0078 a0001c0001t0001g0088 a0001c0001t0001g0100 a0001c0001t0001g0136 a0001c0001t0003g0090 a0001c0001t0003g0121 a0001c0001t0003g0126 a0001c0001t0003g0138 a0001c0001t0003g0146 a0001c0001t0003g0149 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0158 a0001c0001t0003g0165 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0170 a0001c0001t0003g0242 a0001c0001t0010g0166 a0001c0001t0014g0156 a0001c0001t0016g0089 a0002c0002t0001g0119 a0002c0002t0001g0197 a0002c0002t0021g0120	28	248	0.1129	18	c.111 others(37): Show c.1111-1408_1111-1407insTGTGTGTGTGTGTGTGCG	OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
OXSR1_chr3_38160537_38260484	38244670	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGCGCAC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0163	1	248	0.0040	18	c.111 others(37): Show c.1111-1404_1111-1403insTGTGTGTGTGTGCGCACG	OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
OXTR_chr3_8745381_8774613	8746799	T T	TCTCACAC others(11): Show TCTCACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02257.hp1 others(10): Show HG01109.hp2 HG01884.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02572.hp2 HG02809.hp1 HG02818.hp2 HG02976.hp1 HG03130.hp2 HG03209.hp1 HG03540.hp1 HG03579.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0001c0004 a0003c0011 others(1): Show a0001c0002 a0001c0004 a0003c0011 a0004c0006	a0001c0002t0009 a0001c0002t0026 a0001c0002t0044 others(4): Show a0001c0002t0009 a0001c0002t0026 a0001c0002t0044 a0001c0004t0068 a0001c0004t0074 a0003c0011t0079 a0004c0006t0046	a0001c0002t0009g0010 a0001c0002t0009g0027 a0001c0002t0026g0053 others(5): Show a0001c0002t0009g0010 a0001c0002t0009g0027 a0001c0002t0026g0053 a0001c0002t0044g0172 a0001c0004t0068g0276 a0001c0004t0074g0290 a0003c0011t0079g0283 a0004c0006t0046g0095	13	474	0.0274	18	c.61 others(29): Show c.6177_*6178insTGTGTGTGTGTGTGTGAG	OXTR	ENSG00000180914.11	transcript	ENST00000316793.8	protein_coding		3581		chr3	TogoVar
OXTR_chr3_8745381_8774613	8746799	T T	TCTCTCAC others(11): Show TCTCTCACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0039 a0001c0004t0039	a0001c0004t0039g0091 a0001c0004t0039g0091	1	474	0.0021	18	c.61 others(29): Show c.6177_*6178insTGTGTGTGTGTGTGAGAG	OXTR	ENSG00000180914.11	transcript	ENST00000316793.8	protein_coding		3581		chr3	TogoVar
OXTR_chr3_8745381_8774613	8746804	C C	CACACACA others(11): Show CACACACACACACACACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01515.hp2 HG01517.hp1 others(2): Show HG00733.hp2 HG01515.hp2 HG01517.hp1 HG02165.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0045 a0001c0001t0049 a0001c0004t0019 others(1): Show a0001c0001t0045 a0001c0001t0049 a0001c0004t0019 a0002c0003t0019	a0001c0001t0045g0114 a0001c0001t0049g0147 a0001c0004t0019g0060 others(1): Show a0001c0001t0045g0114 a0001c0001t0049g0147 a0001c0004t0019g0060 a0002c0003t0019g0215	5	474	0.0106	18	c.61 others(29): Show c.6172_*6173insTTGTGTGTGTGTGTGTGT	OXTR	ENSG00000180914.11	transcript	ENST00000316793.8	protein_coding		3576		chr3	TogoVar
P2RX1_chr17_3891592_3921465	3907290	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03239.hp2 HG04184.hp2 HG01884.hp2 HG03239.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0093 a0001c0001t0003g0165 a0001c0001t0003g0070 a0001c0001t0003g0093 a0001c0001t0003g0165	3	378	0.0079	18	c.138 others(35): Show c.138-1941_138-1924dupACACACACACACACACAC	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding	1/11			chr17	TogoVar
P2RX1_chr17_3891592_3921465	3918116	A A	AGGAAGGG others(11): Show AGGAAGGGAAGGAAGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	378	0.0027	18	c.-18 others(29): Show c.-1892_-1891insCTCCCTTCCTTCCCTTCC	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding		1652		chr17	TogoVar
P2RX4_chr12_121205129_121239106	121212791	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	388	0.0026	18	c.134 others(35): Show c.134+2510_134+2527dupATATATATATATATATAT	P2RX4	ENSG00000135124.16	transcript	ENST00000337233.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX4_chr12_121205129_121239106	121212822	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0265 a0001c0003t0001g0265	1	388	0.0026	18	c.134 others(35): Show c.134+2525_134+2526insTTTTTTTTTTTTTTTTTT	P2RX4	ENSG00000135124.16	transcript	ENST00000337233.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX4_chr12_121205129_121239106	121221166	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	388	0.0026	18	c.283 others(33): Show c.283-733_283-716dupGTGTGTGTGTGTGTGTGT	P2RX4	ENSG00000135124.16	transcript	ENST00000337233.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX5_chr17_3668227_3701155	3685653	C C	CCCCGGCT others(11): Show CCCCGGCTCTCCCCCCCCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02738.hp1 HG00597.hp2 HG02738.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0287 a0002c0002t0001g0159 a0001c0001t0001g0287 a0002c0002t0001g0159	2	362	0.0055	18	c.981 others(35): Show c.981+2358_981+2359insAGGGGGGGGAGAGCCGGG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3699052	G G	GACACACA others(11): Show GACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG03654.hp2 HG02698.hp1 HG03654.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0142 a0002c0002t0001g0115 a0001c0001t0002g0142 a0002c0002t0001g0115	2	362	0.0055	18	c.-30 others(29): Show c.-3048_-3047insGTGTGTGTGTGTGTGTGT	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding		2898		chr17	TogoVar
P2RX6_chr22_21010165_21033008	21032979	G G	GGTGGGGG others(11): Show GGTGGGGGCCGCGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0020 a0001c0004t0003g0020	1	460	0.0022	18	c.63 others(29): Show c.6362_*6363insGTGGGGGCCGCGGGGGGC	P2RX6	ENSG00000099957.17	transcript	ENST00000413302.7	protein_coding		4972		chr22	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0036 a0003c0004t0001g0036	1	366	0.0027	18	c.125 others(35): Show c.125+2929_125+2930insAAAAAAAAAAAATATATA	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(11): Show AAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00735.hp1 HG01106.hp1 others(7): Show HG00558.hp2 HG00735.hp1 HG01106.hp1 HG01361.hp2 HG01516.hp2 HG01975.hp1 HG03669.hp1 HG03834.hp2 NA18522.hp1 NA18945.hp1	a0002 a0003 a0005 others(4): Show a0002 a0003 a0005 a0007 a0014 a0015 a0018	a0002c0002 a0003c0004 a0005c0006 others(4): Show a0002c0002 a0003c0004 a0005c0006 a0007c0008 a0014c0014 a0015c0012 a0018c0026	a0002c0002t0001 a0003c0004t0001 a0005c0006t0001 others(4): Show a0002c0002t0001 a0003c0004t0001 a0005c0006t0001 a0007c0008t0001 a0014c0014t0001 a0015c0012t0007 a0018c0026t0016	a0002c0002t0001g0079 a0003c0004t0001g0084 a0005c0006t0001g0001 others(6): Show a0002c0002t0001g0079 a0003c0004t0001g0084 a0005c0006t0001g0001 a0005c0006t0001g0082 a0007c0008t0001g0078 a0014c0014t0001g0083 a0015c0012t0007g0085 a0018c0026t0016g0080 a0018c0026t0016g0081	10	366	0.0273	18	c.125 others(35): Show c.125+2929_125+2930insAAAAAAAAAATATATATA	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02559.hp1 NA20805.hp1 others(1): Show HG02523.hp2 HG02559.hp1 NA20805.hp1 NA20805.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0004 a0007c0008 a0001c0001 a0003c0004 a0007c0008	a0001c0001t0001 a0003c0004t0001 a0007c0008t0001 a0001c0001t0001 a0003c0004t0001 a0007c0008t0001	a0001c0001t0001g0158 a0001c0001t0001g0159 a0003c0004t0001g0157 others(1): Show a0001c0001t0001g0158 a0001c0001t0001g0159 a0003c0004t0001g0157 a0007c0008t0001g0018	4	366	0.0109	18	c.125 others(35): Show c.125+2929_125+2930insAAAAAAAATATATATATA	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0170 a0003c0004t0001g0170	1	366	0.0027	18	c.125 others(35): Show c.125+2929_125+2930insAAAAAATATATATATATA	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121176228	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0008 a0004c0003t0008	a0004c0003t0008g0242 a0004c0003t0008g0242	1	366	0.0027	18	c.972 others(33): Show c.972+775_972+792dupACACACACACACACACAC	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr12	TogoVar

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