Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NKD2_chr5_1003802_1043943	1023855	GCTGTGGG others(75): Show GCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACTCTCTGTGGGC GTCCCAGCCCATTGTCCCTGCTCTTCCCACTCT	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	319	0.0031	-82	c.142 others(99): Show c.142-8258_142-8177delTCTCTGTGGGCGTCCCAGCCCATTGTCC CTGCTCTTCCCACTCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTC CCAC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024099	CCGCTGTG others(75): Show CCGCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGG GCGTCTCAGCCCATTGTCCCTGCTCTTCCCACT	C C	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0259 a0001c0001t0007g0259	1	319	0.0031	-82	c.142 others(99): Show c.142-8051_142-7970delGCTGTGGGCGTCCCAGCCCATTGTCCCT GCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCC ACTC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024236	TCAGCCCA others(75): Show TCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGT TGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCC	T T	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	319	0.0031	-82	c.142 others(99): Show c.142-7909_142-7828delATTGTCCCTGCTCTTCCCACCCTCTGTG GGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCA GCCC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024694	ATTGTCCC others(75): Show ATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCT GCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCG	A A	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG03540.hp2 HG01928.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0019 a0001c0001t0008 a0001c0001t0019	a0001c0001t0008g0086 a0001c0001t0019g0193 a0001c0001t0008g0086 a0001c0001t0019g0193	2	319	0.0063	-82	c.142 others(99): Show c.142-7436_142-7355delTCTGTGGGCGTCTCAGCCCATTGTCCCT GCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCC ACCC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024755	CCTCTGTG others(75): Show CCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGG GCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0088 a0001c0001t0008g0088	1	319	0.0031	-82	c.142 others(99): Show c.142-7294_142-7213delGTTGTCCCTGCTCTTCCCACCCGCTGTG GGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCTCA GCCC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024899	TTTGTCCC others(75): Show TTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCTCAGCCCATTGTCCCT GCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCG	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0017 a0006c0013t0017	a0006c0013t0017g0098 a0006c0013t0017g0098	1	319	0.0031	-82	c.142 others(99): Show c.142-7233_142-7152delTCTCTGTGGGCGTCTCAGCCCATTGTCC CTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTC CCAC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024921	TCTGTGGG others(75): Show TCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGC GTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCG	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00621.hp1 others(56): Show HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp2 HG00733.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01928.hp1 HG01934.hp2 HG01981.hp1 HG01993.hp2 HG02055.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp2 HG02523.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp2 HG02738.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 NA18942.hp2 NA18945.hp2 NA18960.hp1 NA18972.hp1 NA18980.hp1 NA18981.hp2 NA18985.hp2 NA18986.hp1 NA18992.hp2 NA18997.hp1 NA19067.hp2 NA19088.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0017 a0002c0003 others(1): Show a0001c0001 a0001c0017 a0002c0003 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0017t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0017t0002 a0002c0003t0002 a0005c0009t0002	a0001c0001t0001g0168 a0001c0001t0001g0177 a0001c0001t0002g0005 others(51): Show a0001c0001t0001g0168 a0001c0001t0001g0177 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0232 a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0264 a0001c0017t0002g0016 a0002c0003t0002g0155 a0005c0009t0002g0249	59	319	0.1850	-82	c.142 others(99): Show c.142-7212_142-7131delATTGTCCCTGCTCTTCCCACCCTCTGTG GGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCA GCCC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024974	TCAGCCCG others(75): Show TCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGT TGTCCCTGCTCTTCCCACCCTCTGTGGGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	319	0.0031	-82	c.142 others(99): Show c.142-7108_142-7027delTCTGTGGGTGTCCCAGCCCGTTGTCCCT GCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCC ACCC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1025126	GCTGTGGG others(75): Show GCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACTCTCTGTGGGC GTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCT	G G	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA19007.hp2 NA19074.hp2 others(1): Show HG02523.hp2 NA19007.hp2 NA19074.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0023 a0001c0001t0007g0027 a0001c0001t0007g0256 a0001c0001t0001g0023 a0001c0001t0007g0027 a0001c0001t0007g0256	4	319	0.0125	-82	c.142 others(99): Show c.142-7014_142-6933delCCAGCCCTTTGTCCCTGCTCTTCCCACT CTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGG CGTC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1025454	GCTGTGGG others(75): Show GCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGC GTCTCAGCCCGTTGTCCCTGCTCTTCCCACTCT	G G	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG03540.hp2 HG01928.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0019 a0001c0001t0008 a0001c0001t0019	a0001c0001t0008g0086 a0001c0001t0019g0193 a0001c0001t0008g0086 a0001c0001t0019g0193	2	319	0.0063	-82	c.142 others(99): Show c.142-6686_142-6605delTCAGCCCGTTGTCCCTGCTCTTCCCACC CGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACTCTCTGTGGG CGTC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1026090	ATTGTCCC others(75): Show ATTGTCCCTGCTCTTCCCACCCTCTGTGGGTGCCCCAGCCCATTGTCCCT GCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(46): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00735.hp2 HG00738.hp2 HG01192.hp1 HG01256.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp1 HG01515.hp2 HG01978.hp1 HG01978.hp2 HG02132.hp1 HG02145.hp2 HG02258.hp2 HG02622.hp1 HG02735.hp1 HG02886.hp2 HG02895.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04228.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18951.hp2 NA18965.hp1 NA18981.hp1 NA18985.hp1 NA19007.hp1 NA19009.hp2 NA19012.hp1 NA19030.hp2 NA19054.hp1 NA19057.hp2 NA19066.hp2 NA19090.hp1 NA19240.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0006 others(2): Show a0001c0001 a0001c0005 a0001c0006 a0001c0012 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0001c0001t0026 a0001c0005t0011 a0001c0006t0009 a0001c0012t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0022 others(44): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0126 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0244 a0001c0001t0003g0002 a0001c0001t0003g0013 a0001c0001t0003g0109 a0001c0001t0003g0118 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0005g0003 a0001c0001t0005g0081 a0001c0001t0005g0089 a0001c0001t0005g0090 a0001c0001t0005g0095 a0001c0001t0006g0076 a0001c0001t0006g0265 a0001c0001t0008g0082 a0001c0001t0008g0087 a0001c0001t0008g0092 a0001c0001t0014g0149 a0001c0001t0026g0024 a0001c0005t0011g0002 a0001c0005t0011g0114 a0001c0006t0009g0072 a0001c0006t0009g0097 a0001c0012t0001g0012 a0002c0003t0001g0040	49	319	0.1536	-82	c.142 others(99): Show c.142-6032_142-5951delTGCCCCAGCCCATTGTCCCTGCTCTTCC CACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCTCTG TGGG	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1026120	TGCCCCAG others(75): Show TGCCCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGC CCTTTGTCCCTGCTCTTCCCACCCTCTGTGGGC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA19012.hp2 HG02257.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0005 a0001c0001t0008	a0001c0001t0005g0003 a0001c0001t0008g0088 a0001c0001t0005g0003 a0001c0001t0008g0088	2	319	0.0063	-82	c.142 others(99): Show c.142-6030_142-5949delCCCCAGCCCATTGTCCCTGCTCTTCCCA CCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCTCTGTG GGCG	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NLRP8_chr19_55942832_55993629	55993537	CCTCCCCT others(75): Show CCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCTCTCCCCTCCTCTCCT CCCCCCTCCTCCTCTCAACCTCCCCTCTCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0230 a0003c0004t0001g0230	1	350	0.0029	-82	c.56 others(93): Show c.5625_*5706delCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCT CTCCCCTCCTCTCCTCCCCCCTCCTCCTCTCAACCTCCCCTCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4909		chr19	TogoVar
NRIP3_chr11_8975576_9009001	8978630	GGGTCAGC others(75): Show GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGG GGTCAGCCCTCCGCCCGGCCAGCCGCCCCATCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0027 a0003c0004t0027	a0003c0004t0027g0287 a0003c0004t0027g0287	1	406	0.0025	-82	c.48 others(93): Show c.4833_*4914delGGATGGGGCGGCTGGCCGGGCGGAGGGCTGACCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACC	NRIP3	ENSG00000175352.12	transcript	ENST00000309166.8	protein_coding		1945		chr11	TogoVar
NWD2_chr4_37239743_37454463	37330830	GTACAATA others(75): Show GTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTATACAATAC CACCAGAATCATCACCCTACTTGAGTATTTCTA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0092 a0001c0004t0001g0092	1	296	0.0034	-82	c.240 others(99): Show c.240+4847_240+4928delATACAATACCACCAGAATCATCACCCTA CTTGAGTATTTCTATACAATACCACCAGAATCATCACCCTACTTGAGTAT TTCT	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NWD2_chr4_37239743_37454463	37331199	GTACAATA others(75): Show GTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTATACAATAC CACCGGAATCATCACCCTACTTGAGTATTTCTA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02976.hp1 others(1): Show HG01884.hp1 HG02145.hp2 HG02976.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0010 others(1): Show a0001c0001 a0001c0004 a0001c0010 a0001c0019	a0001c0001t0001 a0001c0004t0001 a0001c0010t0002 others(1): Show a0001c0001t0001 a0001c0004t0001 a0001c0010t0002 a0001c0019t0018	a0001c0001t0001g0283 a0001c0004t0001g0092 a0001c0010t0002g0179 others(1): Show a0001c0001t0001g0283 a0001c0004t0001g0092 a0001c0010t0002g0179 a0001c0019t0018g0294	4	296	0.0135	-82	c.240 others(99): Show c.240+5216_240+5297delATACAATACCACCGGAATCATCACCCTA CTTGAGTATTTCTATACAATACCACCAGAATCATCACCCTACTTGAGTAT TTCT	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NWD2_chr4_37239743_37454463	37331445	GTACAATA others(75): Show GTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTATACAATAC CACCAGAATCATCACCCTACTTGAGTATTTCTA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0092 a0001c0004t0001g0092	1	296	0.0034	-82	c.240 others(99): Show c.240+5462_240+5543delATACAATACCACCAGAATCATCACCCTA CTTGAGTATTTCTATACAATACCACCAGAATCATCACCCTACTTGAGTAT TTCT	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
OPRL1_chr20_64075082_64105633	64094120	GGGGGCAG others(75): Show GGGGGCAGTGTGGGGGCAGTGTGGGGGGCAGTGTGTGGGTCAGTGTGCGG GCAGTGTGTGGGGGTCAGTGTGGGGGGCAGTGT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03453.hp2 HG01884.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	2	66	0.0303	-82	c.233 others(99): Show c.233+1172_233+1253delCAGTGTGGGGGCAGTGTGGGGGGCAGTG TGTGGGTCAGTGTGCGGGCAGTGTGTGGGGGTCAGTGTGGGGGGCAGTGT GGGG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OR1A1_chr17_3202667_3223896	3221776	TTATTATT others(75): Show TTATTATTATTCCCCACCCCACAACAGGCCCTGGTGTGTGATGTTCCCCT TCCTGTGTCCAAGTGTGAAGATAATGTATGGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	434	0.0023	-82	c.52 others(93): Show c.5227_*5308delTATTATTATTCCCCACCCCACAACAGGCCCTGGT GTGTGATGTTCCCCTTCCTGTGTCCAAGTGTGAAGATAATGTATGGAG	OR1A1	ENSG00000172146.4	transcript	ENST00000641732.2	protein_coding		2881		chr17	TogoVar
OR6B3_chr2_240039571_240058521	240054142	TTCCGTCC others(75): Show TTCCGTCCCTCCCAGGCTGGATTATTGTCACCGCTCTCTCACTGGTCTTC CTCCAGTCTCTCCTGACTCTGTCTGATCCATCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01346.hp1 HG01891.hp1 others(17): Show HG00280.hp1 HG01346.hp1 HG01891.hp1 HG02055.hp2 HG02109.hp2 HG02280.hp1 HG02615.hp2 HG02622.hp2 HG02723.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03516.hp1 HG03579.hp1 NA18522.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0004 others(3): Show a0001c0001 a0002c0002 a0003c0004 a0003c0005 a0004c0003 a0004c0009	a0001c0001t0001 a0002c0002t0002 a0002c0002t0005 others(4): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0005 a0003c0004t0003 a0003c0005t0001 a0004c0003t0003 a0004c0009t0001	a0001c0001t0001g0041 a0001c0001t0001g0101 a0002c0002t0002g0035 others(11): Show a0001c0001t0001g0041 a0001c0001t0001g0101 a0002c0002t0002g0035 a0002c0002t0002g0040 a0002c0002t0002g0102 a0002c0002t0002g0129 a0002c0002t0005g0100 a0003c0004t0003g0130 a0003c0004t0003g0132 a0003c0005t0001g0016 a0003c0005t0001g0095 a0003c0005t0001g0128 a0004c0003t0003g0131 a0004c0009t0001g0127	20	444	0.0451	-82	c.-89 others(91): Show c.-899_-818delTGATGGATCAGACAGAGTCAGGAGAGACTGGAGGAA GACCAGTGAGAGAGCGGTGACAATAATCCAGCCTGGGAGGGACGGA	OR6B3	ENSG00000178586.7	transcript	ENST00000641019.2	protein_coding		622		chr2	TogoVar
OR6J1_chr14_22625929_22649352	22636319	TCTCCCTC others(75): Show TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02896.hp2 HG01891.hp1 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0015 a0002c0002t0004g0185 a0002c0002t0004g0015 a0002c0002t0004g0185	2	362	0.0055	-82	c.-27 others(99): Show c.-27-1563_-27-1482delGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OSBPL10_chr3_31655825_31986262	31812736	AAGAAAGA others(75): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0135 a0001c0002t0001g0135	1	186	0.0054	-82	c.729 others(101): Show c.729+17222_729+17303delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11			chr3	TogoVar
OTULINL_chr5_14576792_14621180	14586627	AAAATACC others(75): Show AAAATACCTCAGCTCTTTCTCCTCTTGCCATATTATTGGTTATTAATGAA TATTAGGGTGAGTCTTCTAACAGTGGGAGTGAT	A A	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0066 a0001c0001t0036g0066	1	380	0.0026	-82	c.64+ others(97): Show c.64+4710_64+4791delATTAATGAATATTAGGGTGAGTCTTCTAAC AGTGGGAGTGATAAATACCTCAGCTCTTTCTCCTCTTGCCATATTATTGG TT	OTULINL	ENSG00000145569.6	transcript	ENST00000274217.4	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
OXSR1_chr3_38160537_38260484	38161590	TATGTATA others(75): Show TATGTATATTTCATATACATATGTCATATATTATGTATATTTCATATACA TATGTCATATATTATGTATATTTCATATACATG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG03490.hp2 HG02630.hp1 HG03490.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0007 a0002c0002t0001 a0002c0002t0007	a0002c0002t0001g0041 a0002c0002t0007g0180 a0002c0002t0001g0041 a0002c0002t0007g0180	2	248	0.0081	-82	c.-42 others(93): Show c.-4286_-4205delATGTATATTTCATATACATATGTCATATATTATG TATATTTCATATACATATGTCATATATTATGTATATTTCATATACATG	OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding		3946		chr3	TogoVar
OXTR_chr3_8745381_8774613	8757250	AAAGTGTT others(75): Show AAAGTGTTTATTCAAGTAATTATCATTAACATTAGTATTAATATTAGTAT TAATATTAATATTAATGTATGTGAGGTATGACC	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01175.hp1 others(6): Show HG01069.hp2 HG01071.hp1 HG01175.hp1 HG02895.hp1 HG02897.hp2 HG03139.hp2 HG03540.hp2 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0036 a0001c0002t0008 a0001c0004t0023 others(1): Show a0001c0001t0036 a0001c0002t0008 a0001c0004t0023 a0001c0004t0032	a0001c0001t0036g0086 a0001c0002t0008g0028 a0001c0004t0023g0031 others(1): Show a0001c0001t0036g0086 a0001c0002t0008g0028 a0001c0004t0023g0031 a0001c0004t0032g0070	9	474	0.0190	-82	c.923 others(99): Show c.923-4108_923-4027delGGTCATACCTCACATACATTAATATTAA TATTAATACTAATATTAATACTAATGTTAATGATAATTACTTGAATAAAC ACTT	OXTR	ENSG00000180914.11	transcript	ENST00000316793.8	protein_coding	3/3			chr3	TogoVar
PACRG_chr6_162722974_163320500	163269867	GAGAAAGA others(75): Show GAGAAAGAAAGAAAGAAAGAAAGAAAACAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAACAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	130	0.0077	-82	c.614 others(101): Show c.614-44934_614-44853delACAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAACAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PASK_chr2_241101099_241154472	241108983	ACCGTAAA others(75): Show ACCGTAAACATCCTCATCCACGCTACCATTTATTTCCTGTCACCGTAAAC ATCCTCATCCACGCTACCATTTATTTCCTGTCG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00558.hp2 others(132): Show HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01981.hp2 HG02015.hp2 HG02040.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG04184.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18960.hp1 NA18964.hp2 NA18965.hp2 NA18970.hp1 NA18972.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19077.hp1 NA19077.hp2 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp1 NA19240.hp1 NA20300.hp2 NA21309.hp2	a0003 a0004 a0005 others(11): Show a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0013 a0014 a0019 a0021 a0022 a0027	a0003c0003 a0003c0008 a0004c0004 others(26): Show a0003c0003 a0003c0008 a0004c0004 a0004c0018 a0004c0030 a0004c0036 a0004c0057 a0004c0058 a0005c0013 a0005c0020 a0005c0021 a0005c0028 a0005c0046 a0005c0050 a0006c0009 a0006c0033 a0007c0010 a0008c0016 a0008c0059 a0009c0019 a0011c0063 a0011c0064 a0011c0066 a0013c0034 a0014c0027 a0019c0049 a0021c0043 a0022c0069 a0027c0041	a0003c0003t0002 a0003c0008t0001 a0004c0004t0001 others(28): Show a0003c0003t0002 a0003c0008t0001 a0004c0004t0001 a0004c0018t0002 a0004c0030t0010 a0004c0036t0001 a0004c0057t0013 a0004c0058t0002 a0005c0013t0001 a0005c0013t0002 a0005c0020t0001 a0005c0021t0002 a0005c0028t0006 a0005c0046t0001 a0005c0050t0002 a0006c0009t0003 a0006c0009t0016 a0006c0033t0009 a0007c0010t0001 a0008c0016t0001 a0008c0059t0014 a0009c0019t0001 a0011c0063t0008 a0011c0064t0002 a0011c0066t0006 a0013c0034t0002 a0014c0027t0002 a0019c0049t0002 a0021c0043t0001 a0022c0069t0003 a0027c0041t0001	a0003c0003t0002g0002 a0003c0003t0002g0046 a0003c0003t0002g0051 others(119): Show a0003c0003t0002g0002 a0003c0003t0002g0046 a0003c0003t0002g0051 a0003c0003t0002g0052 a0003c0003t0002g0054 a0003c0003t0002g0055 a0003c0003t0002g0056 a0003c0003t0002g0057 a0003c0003t0002g0059 a0003c0003t0002g0060 a0003c0003t0002g0061 a0003c0003t0002g0066 a0003c0003t0002g0067 a0003c0003t0002g0075 a0003c0003t0002g0076 a0003c0003t0002g0077 a0003c0003t0002g0078 a0003c0003t0002g0079 a0003c0003t0002g0080 a0003c0003t0002g0082 a0003c0003t0002g0083 a0003c0003t0002g0084 a0003c0003t0002g0085 a0003c0003t0002g0167 a0003c0003t0002g0293 a0003c0003t0002g0294 a0003c0008t0001g0017 a0003c0008t0001g0172 a0003c0008t0001g0173 a0003c0008t0001g0176 a0003c0008t0001g0177 a0003c0008t0001g0182 a0003c0008t0001g0190 a0003c0008t0001g0194 a0003c0008t0001g0220 a0004c0004t0001g0008 a0004c0004t0001g0020 a0004c0004t0001g0088 a0004c0004t0001g0180 a0004c0004t0001g0187 a0004c0004t0001g0201 a0004c0004t0001g0203 a0004c0004t0001g0205 a0004c0004t0001g0206 a0004c0004t0001g0207 a0004c0004t0001g0210 a0004c0004t0001g0211 a0004c0004t0001g0212 a0004c0004t0001g0214 a0004c0004t0001g0215 a0004c0004t0001g0217 a0004c0004t0001g0218 a0004c0004t0001g0219 a0004c0004t0001g0221 a0004c0018t0002g0047 a0004c0018t0002g0050 a0004c0018t0002g0058 a0004c0018t0002g0072 a0004c0018t0002g0074 a0004c0030t0010g0168 a0004c0030t0010g0171 a0004c0036t0001g0248 a0004c0057t0013g0032 a0004c0058t0002g0305 a0005c0013t0001g0131 a0005c0013t0001g0232 a0005c0013t0002g0089 a0005c0013t0002g0252 a0005c0013t0002g0253 a0005c0013t0002g0280 a0005c0013t0002g0285 a0005c0013t0002g0290 a0005c0013t0002g0317 a0005c0020t0001g0244 a0005c0020t0001g0245 a0005c0020t0001g0246 a0005c0020t0001g0247 a0005c0021t0002g0254 a0005c0021t0002g0282 a0005c0021t0002g0284 a0005c0028t0006g0275 a0005c0028t0006g0276 a0005c0046t0001g0161 a0005c0050t0002g0272 a0006c0009t0003g0004 a0006c0009t0003g0009 a0006c0009t0003g0031 a0006c0009t0003g0035 a0006c0009t0003g0036 a0006c0009t0003g0038 a0006c0009t0016g0239 a0006c0033t0009g0040 a0006c0033t0009g0041 a0007c0010t0001g0027 a0007c0010t0001g0125 a0007c0010t0001g0126 a0007c0010t0001g0127 a0007c0010t0001g0128 a0007c0010t0001g0319 a0007c0010t0001g0320 a0007c0010t0001g0328 a0008c0016t0001g0107 a0008c0016t0001g0108 a0008c0016t0001g0120 a0008c0016t0001g0121 a0008c0016t0001g0145 a0008c0016t0001g0148 a0008c0016t0001g0316 a0008c0059t0014g0039 a0009c0019t0001g0006 a0009c0019t0001g0152 a0011c0063t0008g0044 a0011c0064t0002g0325 a0011c0066t0006g0242 a0013c0034t0002g0326 a0013c0034t0002g0327 a0014c0027t0002g0257 a0014c0027t0002g0281 a0019c0049t0002g0273 a0021c0043t0001g0119 a0022c0069t0003g0037 a0027c0041t0001g0122	135	376	0.3590	-82	c.353 others(99): Show c.3534-765_3534-684delCGACAGGAAATAAATGGTAGCGTGGATG AGGATGTTTACGGTGACAGGAAATAAATGGTAGCGTGGATGAGGATGTTT ACGG	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	15/17			chr2	TogoVar
PAXBP1_chr21_32728899_32776755	32771867	AGAGAGAG others(75): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	360	0.0028	-82	c.-28 others(91): Show c.-281_-200delGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding		113		chr21	TogoVar
PAXBP1_chr21_32728899_32776755	32771891	AGAGAGAG others(75): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGCGAGAGAGAGAGAGAGAGAGAGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01433.hp1 HG02698.hp1 others(3): Show HG01069.hp2 HG01433.hp1 HG02698.hp1 HG03688.hp2 HG03834.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0041 a0001c0001t0001g0043 others(3): Show a0001c0001t0001g0009 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0055	6	360	0.0167	-82	c.-30 others(91): Show c.-305_-224delGCTCTCTCTCTCTCTCTCTCTCTCGCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding		137		chr21	TogoVar
PCK2_chr14_24089311_24109125	24106926	TTGTTGGG others(75): Show TTGTTGGGAAGATTAAAAGAGTCAGTGGAATAAAGCACTCAGAACTATGC CTGGCACCGAATAACCATTTAATACATGTTAGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	404	0.0025	-82	c.29 others(93): Show c.2963_*3044delTGTTGGGAAGATTAAAAGAGTCAGTGGAATAAAG CACTCAGAACTATGCCTGGCACCGAATAACCATTTAATACATGTTAGC	PCK2	ENSG00000100889.12	transcript	ENST00000216780.9	protein_coding		2802		chr14	TogoVar
PDZD2_chr5_31634131_32115932	31849913	TATATACA others(75): Show TATATACATATATATATATACACATATATATATATACATATATATATATA CACATATATATATATACATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0032 a0032	a0032c0064 a0032c0064	a0032c0064t0001 a0032c0064t0001	a0032c0064t0001g0191 a0032c0064t0001g0191	1	216	0.0046	-82	c.476 others(101): Show c.476+50195_476+50276delCATATATATATATACACATATATATA TATACATATATATATATACACATATATATATATACATATATATATATACA CATATA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PGBD5_chr1_230309490_230431332	230396181	TTCCTTTT others(75): Show TTCCTTTTTACCCCCCCACTCTTCCCTTTTACTCACATTCCTCCTTTTTA CCCCCACACTCCTCCCTTTTACCCCCACACTCC	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02818.hp2 HG03225.hp2 HG01978.hp1 HG02818.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0060 a0001c0001t0112 a0001c0002t0003 a0001c0001t0060 a0001c0001t0112 a0001c0002t0003	a0001c0001t0060g0044 a0001c0001t0112g0125 a0001c0002t0003g0259 a0001c0001t0060g0044 a0001c0001t0112g0125 a0001c0002t0003g0259	3	288	0.0104	-82	c.331 others(101): Show c.331+29335_331+29416delGGAGTGTGGGGGTAAAAGGGAGGAGT GTGGGGGTAAAAAGGAGGAATGTGAGTAAAAGGGAAGAGTGGGGGGGTAA AAAGGA	PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	1/6			chr1	TogoVar
PID1_chr2_229018973_229276287	229184013	TATGTATG others(75): Show TATGTATGTATATATCCCATATATATATCCCATATATATATCCCATATAT ATATCCCATATGTATATCCCATATATATATCCC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03195.hp2 NA18952.hp2 others(4): Show HG02630.hp2 HG03195.hp2 NA18952.hp2 NA19009.hp2 NA19066.hp1 NA19070.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0001t0001 a0001c0001t0003 a0001c0001t0016	a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0192 others(4): Show a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0192 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0003g0240 a0001c0001t0016g0142	7	256	0.0273	-82	c.31- others(99): Show c.31-28131_31-28050delGGGATATATATATGGGATATACATATGG GATATATATATGGGATATATATATGGGATATATATATGGGATATATACAT ACAT	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	1/2			chr2	TogoVar
PLAUR_chr19_43643579_43675169	43643681	TGAATAGT others(75): Show TGAATAGTGTCCTCCAAGTAAAATATATGTTGAAGTTCTAGCCCCTGGTA TCTGTACATGTGACCTTATTTGGAAATAAAATC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02258.hp2 HG02965.hp1 others(5): Show HG02132.hp2 HG02258.hp2 HG02965.hp1 NA18953.hp1 NA18955.hp1 NA18966.hp2 NA18992.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0265 others(5): Show a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0265 a0001c0001t0001g0290 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0315 a0001c0001t0001g0380	8	442	0.0181	-82	c.51 others(93): Show c.5127_*5208delGATTTTATTTCCAAATAAGGTCACATGTACAGAT ACCAGGGGCTAGAACTTCAACATATATTTTACTTGGAGGACACTATTC	PLAUR	ENSG00000011422.12	transcript	ENST00000340093.8	protein_coding		4897		chr19	TogoVar
PLCXD1_chrX_276381_308356	277476	AGGGGAGG others(75): Show AGGGGAGGGCTCAGGAGGACATGGGGACAGGTGTGGGGACAGGAGTGGAC ACCCCTCAGTGGTCAGGGGACCTGGGATGTGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0153 a0001c0002t0038g0153	1	176	0.0057	-82	c.-42 others(93): Show c.-4229_-4148delGGGGAGGGCTCAGGAGGACATGGGGACAGGTGTG GGGACAGGAGTGGACACCCCTCAGTGGTCAGGGGACCTGGGATGTGAG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		3904		chrX	TogoVar
PLCXD3_chr5_41301952_41515601	41411877	TATATATG others(75): Show TATATATGTATCCATATATATATCTCCATATATATGTATCCATATATATA TCTCCATATATATGTATCCATATATATGTATCC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0004 a0001c0001t0027g0004	1	244	0.0041	-82	c.104 others(101): Show c.104-29425_104-29344delGGATACATATATATGGATACATATAT ATGGAGATATATATATGGATACATATATATGGAGATATATATATGGATAC ATATAT	PLCXD3	ENSG00000182836.11	transcript	ENST00000377801.8	protein_coding	1/2			chr5	TogoVar
PLEK2_chr14_67381984_67417165	67398544	ACTAAACT others(75): Show ACTAAACTACCCTTCTCTTTATTCCTGCCACCTGAGAACCACCTAAACGA CCCTTCTCTTTATTCCTGCCACCTGAGAACCAC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01261.hp2 HG01952.hp1 others(1): Show HG00733.hp1 HG01261.hp2 HG01952.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0201 a0001c0001t0001g0023 a0001c0001t0001g0201	4	354	0.0113	-82	c.43- others(95): Show c.43-800_43-719delGTGGTTCTCAGGTGGCAGGAATAAAGAGAAGG GTCGTTTAGGTGGTTCTCAGGTGGCAGGAATAAAGAGAAGGGTAGTTTAG	PLEK2	ENSG00000100558.9	transcript	ENST00000216446.9	protein_coding	1/8			chr14	TogoVar
PLEKHG4B_chr5_87168_194966	165183	GTACTCCT others(75): Show GTACTCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAG CTCACACTAATGCTCTGACGGGGCGGGGCTCAC	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0019 a0019	a0019c0029 a0019c0029	a0019c0029t0112 a0019c0029t0112	a0019c0029t0112g0155 a0019c0029t0112g0155	1	210	0.0048	-82	c.347 others(101): Show c.3476+1638_3476+1719delCTCCTCTGACGGGGCGGAGCTCACAC TAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGC TCACTA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165244	GCTCTGAC others(75): Show GCTCTGACGGGGCGGGGCTCACTAATGCTCTGACGGGGCGGGGCTCACAC TAACGCTCTGACGGGGCGGGGCTCACAGTAATC	G G	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0057 a0002c0057	a0002c0057t0003 a0002c0057t0003	a0002c0057t0003g0026 a0002c0057t0003g0026	1	210	0.0048	-82	c.347 others(101): Show c.3476+1711_3476+1792delGGCTCACTAATGCTCTGACGGGGCGG GGCTCACACTAACGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACG GGGCGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	166425	CGGGGCGG others(75): Show CGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATG CTCTGACGGGGCGGGGCTCACAGTAATCTTCTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA18971.hp2 NA19056.hp1 HG00099.hp2 NA18971.hp2 NA19056.hp1	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0066 a0002c0003t0071 a0002c0005t0072 a0002c0003t0066 a0002c0003t0071 a0002c0005t0072	a0002c0003t0066g0209 a0002c0003t0071g0095 a0002c0005t0072g0153 a0002c0003t0066g0209 a0002c0003t0071g0095 a0002c0005t0072g0153	3	210	0.0143	-82	c.347 others(101): Show c.3476+2878_3477-2833delGGGGCGGAGCTCACACTAATGCTCTG ACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAAT CTTCTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19			chr5	TogoVar
PLPP1_chr5_55419854_55539964	55512478	AAAAAAGA others(75): Show AAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	294	0.0034	-82	c.58+ others(99): Show c.58+22012_58+22093delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTCTTTCT TTTT	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	1/5			chr5	TogoVar
POTEC_chr18_14502339_14548600	14546569	GGCAGAGT others(75): Show GGCAGAGTCTCACCCTTTTGTCCAGGTTGGAGTGCAATGGCGCAATCTCG GCTTACTGCAACCTTTGCCTCCCGGGTTCAAGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0150 a0002c0002t0002g0150	1	388	0.0026	-82	c.-35 others(93): Show c.-3505_-3424delACTTGAACCCGGGAGGCAAAGGTTGCAGTAAGCC GAGATTGCGCCATTGCACTCCAACCTGGACAAAAGGGTGAGACTCTGC	POTEC	ENSG00000183206.18	transcript	ENST00000358970.10	protein_coding		2970		chr18	TogoVar
POTEG_chr14_19397486_19439341	19432400	ATATACAC others(75): Show ATATACACACACATGTATATATATGTATATACGTATATATATATATACAT ATATATATACATATATACATATATATACATGTG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0009 a0007c0010t0009	a0007c0010t0009g0015 a0007c0010t0009g0015	1	111	0.0090	-82	c.521 others(99): Show c.521+1287_521+1368delCACATGTATATATATGTATATATGTATA TATATATGTATATATATATATACGTATATACATATATATACATGTGTGTG TATA	POTEG	ENSG00000187537.13	transcript	ENST00000547848.5	protein_coding	1/10			chr14	TogoVar
PRKN_chr6_161342417_162732766	161655065	CACAGAGG others(75): Show CACAGAGGCATTCCTGGGCCCACCCAGGCTCTCAGCGTCATTAGCATGGG CCTGGCCCCTCATCACCAGCAAGGTGCCCAGTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02602.hp2 HG01884.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0007 a0001c0001t0006g0003 a0001c0001t0002g0007 a0001c0001t0006g0003	2	32	0.0625	-82	c.872 others(101): Show c.872-85731_872-85650delAACTGGGCACCTTGCTGGTGATGAGG GGCCAGGCCCATGCTAATGACGCTGAGAGCCTGGGTGGGCCCAGGAATGC CTCTGT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161655101	GTCATTAG others(75): Show GTCATTAGCATGGGCCTGGCCCCTCATCACCAGCAAGGTGCCCAGTTACA GAGGCATTCCTGGGCCCACCCAGGCTCTCAGCA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02897.hp2 HG02922.hp2 others(2): Show HG02647.hp2 HG02897.hp2 HG02922.hp2 HG03195.hp2 HG03516.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0002c0007 others(1): Show a0001c0001 a0001c0004 a0002c0007 a0004c0009	a0001c0001t0002 a0001c0001t0007 a0001c0004t0001 others(2): Show a0001c0001t0002 a0001c0001t0007 a0001c0004t0001 a0002c0007t0013 a0004c0009t0011	a0001c0001t0002g0023 a0001c0001t0007g0020 a0001c0004t0001g0001 others(2): Show a0001c0001t0002g0023 a0001c0001t0007g0020 a0001c0004t0001g0001 a0002c0007t0013g0018 a0004c0009t0011g0031	5	32	0.1563	-82	c.872 others(101): Show c.872-85767_872-85686delTGCTGAGAGCCTGGGTGGGCCCAGGA ATGCCTCTGTAACTGGGCACCTTGCTGGTGATGAGGGGCCAGGCCCATGC TAATGA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161874722	TATATAAA others(75): Show TATATAAAATGTACTATATATAAAATATATAATATATATAAAATATATAA TATATAAAATGTATAATAAATAAAATGTATAAG	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	32	0.0313	-82	c.735 others(101): Show c.735-88896_735-88815delCTTATACATTTTATTTATTATACATT TTATATATTATATATTTTATATATATTATATATTTTATATATAGTACATT TTATAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162380401	ATATATAT others(75): Show ATATATATATATACACACATATATATATGTGTGTATATATATATATGTAT ATATACACACATATATATGTGTGTATATATATG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03209.hp2 HG03516.hp1 HG03195.hp1 HG03209.hp2 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0008 a0003c0005 a0001c0003 a0001c0008 a0003c0005	a0001c0003t0001 a0001c0008t0010 a0003c0005t0001 a0001c0003t0001 a0001c0008t0010 a0003c0005t0001	a0001c0003t0001g0032 a0001c0008t0010g0014 a0003c0005t0001g0015 a0001c0003t0001g0032 a0001c0008t0010g0014 a0003c0005t0001g0015	3	32	0.0938	-82	c.171 others(101): Show c.171+62827_171+62908delCATATATATACACACATATATATGTG TGTATATATACATATATATATATACACACATATATATATGTGTGTATATA TATATA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	2/11			chr6	TogoVar
PRPF31_chr19_54110754_54136713	54132747	CTGGCTCA others(75): Show CTGGCTCATGGCAACCTCCACCTCCCGGGTCCAGGTGATTCTCCTGCCTC AGTCTCCTGAGTAGCTGGGATTACAGGCGCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	227	0.0044	-82	c.13 others(93): Show c.1316_*1397delTGGCTCATGGCAACCTCCACCTCCCGGGTCCAGG TGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCCA	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		1035		chr19	TogoVar
PTDSS2_chr11_445279_496399	479281	AGTAGGCC others(75): Show AGTAGGCCGAGCTGCGGGGGGTCTCCAGGAGCATCTGTGCGGCCCTTGAG TGATGGGGGGCAGCAAAGCTAGACCTTCAAAAC	A A	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	346	0.0029	-82	c.435 others(97): Show c.435+150_435+231delTCTCCAGGAGCATCTGTGCGGCCCTTGAGT GATGGGGGGCAGCAAAGCTAGACCTTCAAAACGTAGGCCGAGCTGCGGGG GG	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTGIR_chr19_46615468_46630089	46619513	GAAAGAAA others(75): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0028 a0001c0003t0010g0028	1	420	0.0024	-82	c.16 others(93): Show c.1685_*1766delTTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	PTGIR	ENSG00000160013.9	transcript	ENST00000291294.7	protein_coding		954		chr19	TogoVar

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