Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
OSBPL10_chr3_31655825_31986262	31944833	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG02717.hp2 others(3): Show HG00323.hp1 HG00423.hp1 HG02717.hp2 HG02809.hp1 HG03831.hp2 NA19063.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0001c0026 others(2): Show a0001c0002 a0001c0006 a0001c0026 a0001c0036 a0002c0003	a0001c0002t0001 a0001c0006t0002 a0001c0026t0002 others(2): Show a0001c0002t0001 a0001c0006t0002 a0001c0026t0002 a0001c0036t0002 a0002c0003t0001	a0001c0002t0001g0060 a0001c0006t0002g0081 a0001c0026t0002g0150 others(3): Show a0001c0002t0001g0060 a0001c0006t0002g0081 a0001c0026t0002g0150 a0001c0036t0002g0063 a0002c0003t0001g0049 a0002c0003t0001g0078	6	186	0.0323	-18	c.281 others(37): Show c.281+36048_281+36065delTTTTTTTTTTTTTTTTTT		OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	1/11						chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31965429	AATATATA others(11): Show AATATATAATATATATTAT	A A	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0045 a0002c0003t0001g0045	1	186	0.0054	-18	c.281 others(37): Show c.281+15452_281+15469delATAATATATATTATATAT		OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	1/11						chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31966153	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0005 a0003c0011t0005	a0003c0011t0005g0162 a0003c0011t0005g0162	1	186	0.0054	-18	c.281 others(37): Show c.281+14728_281+14745delCACACACACACACACACA		OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	1/11						chr3	TogoVar
OSBPL1A_chr18_24157052_24402824	24332385	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	206	0.0049	-18	c.625 others(33): Show c.625+539_625+556delTTTTTTTTTTTTTTTTTT		OSBPL1A	ENSG00000141447.19	transcript	ENST00000319481.8	protein_coding	7/27						chr18	TogoVar
OSBPL3_chr7_24791540_24985178	24982209	CTCTCTCT others(11): Show CTCTCTCTCTCTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0317 a0001c0002t0001g0317	1	326	0.0031	-18	c.-24 others(29): Show c.-2491_-2474delCACACACAGAGAGAGAGA		OSBPL3	ENSG00000070882.13	transcript	ENST00000313367.7	protein_coding					2032		chr7	TogoVar
OSBPL3_chr7_24791540_24985178	24982213	CTCTCTCT others(11): Show CTCTCTCTGTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG02717.hp1 NA18980.hp1 others(2): Show HG00597.hp2 HG02717.hp1 NA18980.hp1 NA18982.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0143 others(2): Show a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0143 a0001c0002t0001g0153 a0001c0002t0001g0156	5	326	0.0153	-18	c.-24 others(29): Show c.-2495_-2478delCACACACACACAGAGAGA		OSBPL3	ENSG00000070882.13	transcript	ENST00000313367.7	protein_coding					2036		chr7	TogoVar
OSBPL5_chr11_3082107_3170310	3111967	GTGCATAT others(11): Show GTGCATATGTGTGCGCGCA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0006 a0006	a0006c0028 a0006c0028	a0006c0028t0001 a0006c0028t0001	a0006c0028t0001g0014 a0006c0028t0001g0014	1	326	0.0031	-18	c.692 others(35): Show c.692-4040_692-4023delTGCGCGCACACATATGCA		OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	7/21						chr11	TogoVar
OSBPL5_chr11_3082107_3170310	3155651	TCACTCAC others(11): Show TCACTCACCCCAGCTCTGC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG04204.hp2 HG02055.hp1 HG04204.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0320 a0001c0004t0001g0321 a0001c0004t0001g0320 a0001c0004t0001g0321	2	326	0.0061	-18	c.-22 others(35): Show c.-22+9547_-22+9564delGCAGAGCTGGGGTGAGTG		OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	1/21						chr11	TogoVar
OSBPL6_chr2_178189512_178407893	178317437	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	200	0.0050	-18	c.103 others(35): Show c.103-6714_103-6697delTATATATATATATATATA		OSBPL6	ENSG00000079156.17	transcript	ENST00000190611.9	protein_coding	3/24					INFO_REALIGN_3_PRIME	chr2	TogoVar
OSBPL8_chr12_76346797_76564771	76526635	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01192.hp1 HG02258.hp2 others(11): Show HG01109.hp2 HG01192.hp1 HG02258.hp2 HG02572.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG06807.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0007 a0001c0001t0027 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0027 a0001c0005t0001	a0001c0001t0001g0098 a0001c0001t0007g0086 a0001c0001t0007g0087 others(11): Show a0001c0001t0001g0098 a0001c0001t0007g0086 a0001c0001t0007g0087 a0001c0001t0007g0088 a0001c0001t0007g0089 a0001c0001t0007g0090 a0001c0001t0007g0091 a0001c0001t0007g0092 a0001c0001t0007g0094 a0001c0001t0007g0095 a0001c0001t0007g0096 a0001c0001t0007g0097 a0001c0001t0027g0093 a0001c0005t0001g0085	14	238	0.0588	-18	c.-68 others(37): Show c.-68+32744_-68+32761delAAAAAAAAAAAAAAAAAA		OSBPL8	ENSG00000091039.17	transcript	ENST00000261183.8	protein_coding	1/23						chr12	TogoVar
OSCAR_chr19_54089668_54105803	54105596	GAACAGTC others(11): Show GAACAGTCCCATGACACTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0208 a0001c0003t0001g0208	1	443	0.0023	-18	c.-48 others(29): Show c.-4822_-4805delTAGTGTCATGGGACTGTT		OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding					4794		chr19	TogoVar
OSGEPL1_chr2_189741660_189767792	189742905	GACACACA others(11): Show GACACACACACACACACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00621.hp1 HG00621.hp2 others(9): Show HG00099.hp1 HG00621.hp1 HG00621.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG02055.hp2 HG02129.hp1 HG03130.hp2 NA18959.hp1 NA18967.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0057 a0001c0001t0003g0013 a0001c0001t0003g0062	12	358	0.0335	-18	c.42 others(29): Show c.4274_*4291delGTGTGTGTGTGTGTGTGT		OSGEPL1	ENSG00000128694.12	transcript	ENST00000264151.10	protein_coding					3754		chr2	TogoVar
OSGIN1_chr16_83948240_83971332	83968057	TGTTCTGG others(11): Show TGTTCTGGGGTGAAGACTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03471.hp2 HG03209.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0016 a0001c0002t0003g0016	2	350	0.0057	-18	c.20 others(29): Show c.2051_*2068delGTTCTGGGGTGAAGACTG		OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding					1726		chr16	TogoVar
OSMR_chr5_38841012_38940641	38930920	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02809.hp2 HG02559.hp1 HG02809.hp2	a0002 a0007 a0002 a0007	a0002c0006 a0007c0009 a0002c0006 a0007c0009	a0002c0006t0001 a0007c0009t0001 a0002c0006t0001 a0007c0009t0001	a0002c0006t0001g0066 a0007c0009t0001g0329 a0002c0006t0001g0066 a0007c0009t0001g0329	2	382	0.0052	-18	c.221 others(35): Show c.2213-935_2213-918delGTGTGTGTGTGTGTGTGT		OSMR	ENSG00000145623.13	transcript	ENST00000274276.8	protein_coding	15/17					INFO_REALIGN_3_PRIME	chr5	TogoVar
OSTF1_chr9_75083514_75152265	75128363	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0151	1	366	0.0027	-18	c.132 others(33): Show c.132+771_132+788delATATATATATATATATAT		OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr9	TogoVar
OSTF1_chr9_75083514_75152265	75132962	TACACACA others(11): Show TACACACACATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0153 a0001c0001t0004g0153	1	366	0.0027	-18	c.251 others(33): Show c.251-322_251-305delTACACACACACACACACA		OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr9	TogoVar
OTOA_chr16_21658968_21765729	21707639	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp2 HG00099.hp1 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0242 a0001c0001t0001g0130 a0001c0001t0001g0242	2	320	0.0063	-18	c.110 others(37): Show c.1105-2237_1105-2220delTTCTTTCTCTTTCTTTCT		OTOA	ENSG00000155719.18	transcript	ENST00000646100.2	protein_coding	12/28					INFO_REALIGN_3_PRIME	chr16	TogoVar
OTOA_chr16_21658968_21765729	21721232	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	320	0.0031	-18	c.180 others(37): Show c.1807-1643_1807-1626delCACACACACACACACACA		OTOA	ENSG00000155719.18	transcript	ENST00000646100.2	protein_coding	17/28					INFO_REALIGN_3_PRIME	chr16	TogoVar
OTOA_chr16_21658968_21765729	21755447	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	320	0.0031	-18	c.315 others(37): Show c.3154-1608_3154-1591delGTGTGTGTGTGTGTGTGT		OTOA	ENSG00000155719.18	transcript	ENST00000646100.2	protein_coding	27/28					INFO_REALIGN_3_PRIME	chr16	TogoVar
OTOGL_chr12_80094537_80385880	80170201	GTGTGTGT others(11): Show GTGTGTGTGTGTGTATGTA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp1 HG03098.hp2 others(2): Show HG02257.hp1 HG02258.hp1 HG03098.hp2 HG03225.hp2 HG03540.hp2	a0003 a0010 a0012 others(1): Show a0003 a0010 a0012 a0024	a0003c0002 a0010c0021 a0012c0014 others(1): Show a0003c0002 a0010c0021 a0012c0014 a0024c0037	a0003c0002t0009 a0010c0021t0001 a0012c0014t0003 others(1): Show a0003c0002t0009 a0010c0021t0001 a0012c0014t0003 a0024c0037t0002	a0003c0002t0009g0006 a0010c0021t0001g0003 a0012c0014t0003g0010 others(2): Show a0003c0002t0009g0006 a0010c0021t0001g0003 a0012c0014t0003g0010 a0012c0014t0003g0153 a0024c0037t0002g0059	5	168	0.0298	-18	c.-19 others(37): Show c.-19-39190_-19-39173delGTGTGTGTGTATGTATGT		OTOGL	ENSG00000165899.12	transcript	ENST00000547103.7	protein_coding	1/58					INFO_REALIGN_3_PRIME	chr12	TogoVar
OTOGL_chr12_80094537_80385880	80272342	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02976.hp2 HG01261.hp1 HG02976.hp2	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0005 a0014c0015t0005	a0014c0015t0005g0130 a0014c0015t0005g0131 a0014c0015t0005g0130 a0014c0015t0005g0131	2	168	0.0119	-18	c.268 others(35): Show c.2681+562_2681+579delGTGTGTGTGTGTGTGTGT		OTOGL	ENSG00000165899.12	transcript	ENST00000547103.7	protein_coding	24/58					INFO_REALIGN_3_PRIME	chr12	TogoVar
OTOGL_chr12_80094537_80385880	80323097	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0003 a0005c0004t0003	a0005c0004t0003g0138 a0005c0004t0003g0138	1	168	0.0060	-18	c.408 others(35): Show c.4082-592_4082-575delCACACACACACACACACA		OTOGL	ENSG00000165899.12	transcript	ENST00000547103.7	protein_coding	34/58					INFO_REALIGN_3_PRIME	chr12	TogoVar
OTOGL_chr12_80094537_80385880	80323131	CACACACA others(11): Show CACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0016 a0016	a0016c0035 a0016c0035	a0016c0035t0001 a0016c0035t0001	a0016c0035t0001g0047 a0016c0035t0001g0047	1	168	0.0060	-18	c.408 others(35): Show c.4082-590_4082-573delCACACACACACACACATA		OTOGL	ENSG00000165899.12	transcript	ENST00000547103.7	protein_coding	34/58					INFO_REALIGN_3_PRIME	chr12	TogoVar
OTOG_chr11_17542259_17651044	17548418	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG04204.hp1 HG03654.hp1 HG04204.hp1	a0101 a0109 a0101 a0109	a0101c0096 a0109c0092 a0101c0096 a0109c0092	a0101c0096t0001 a0109c0092t0002 a0101c0096t0001 a0109c0092t0002	a0101c0096t0001g0019 a0109c0092t0002g0020 a0101c0096t0001g0019 a0109c0092t0002g0020	2	268	0.0075	-18	c.216 others(33): Show c.216+227_216+244delTTTTTTTTTTTTTTTTTT		OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	3/55					INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOG_chr11_17542259_17651044	17552567	CCCCACCT others(11): Show CCCCACCTGTCCTGTGTCT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01099.hp2 HG01168.hp1 others(2): Show HG00733.hp2 HG01099.hp2 HG01168.hp1 HG01433.hp2 HG02055.hp2	a0001 a0004 a0007 others(2): Show a0001 a0004 a0007 a0042 a0045	a0001c0001 a0004c0048 a0007c0004 others(2): Show a0001c0001 a0004c0048 a0007c0004 a0042c0123 a0045c0043	a0001c0001t0001 a0004c0048t0001 a0007c0004t0002 others(2): Show a0001c0001t0001 a0004c0048t0001 a0007c0004t0002 a0042c0123t0002 a0045c0043t0001	a0001c0001t0001g0051 a0004c0048t0001g0053 a0007c0004t0002g0049 others(2): Show a0001c0001t0001g0051 a0004c0048t0001g0053 a0007c0004t0002g0049 a0042c0123t0002g0050 a0045c0043t0001g0052	5	268	0.0187	-18	c.292 others(33): Show c.292+510_293-517delTCCCACCTGTCCTGTGTC		OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55					INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOP1_chr4_4183726_4231929	4204712	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(213): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp1 NA18981.hp2 NA18988.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19058.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19087.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0016 a0019	a0001c0001 a0001c0004 a0002c0003 others(19): Show a0001c0001 a0001c0004 a0002c0003 a0002c0013 a0002c0023 a0002c0028 a0003c0005 a0004c0006 a0005c0007 a0006c0025 a0007c0008 a0008c0009 a0008c0026 a0009c0012 a0009c0018 a0010c0011 a0011c0014 a0012c0015 a0013c0027 a0014c0024 a0016c0016 a0019c0021	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0002c0003t0001 a0002c0013t0001 a0002c0023t0001 a0002c0028t0001 a0003c0005t0001 a0004c0006t0001 a0005c0007t0001 a0006c0025t0001 a0007c0008t0001 a0008c0009t0001 a0008c0026t0001 a0009c0012t0001 a0009c0018t0001 a0010c0011t0001 a0011c0014t0001 a0012c0015t0001 a0013c0027t0001 a0014c0024t0001 a0016c0016t0001 a0019c0021t0001	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 others(197): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0130 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0242 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0322 a0001c0001t0001g0326 a0001c0001t0001g0338 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0357 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0002g0032 a0001c0004t0001g0039 a0001c0004t0001g0040 a0001c0004t0001g0048 a0001c0004t0001g0059 a0001c0004t0001g0060 a0001c0004t0001g0091 a0001c0004t0001g0107 a0001c0004t0001g0132 a0001c0004t0001g0133 a0001c0004t0001g0134 a0001c0004t0001g0136 a0001c0004t0001g0149 a0001c0004t0001g0170 a0001c0004t0001g0190 a0001c0004t0001g0231 a0001c0004t0001g0243 a0001c0004t0001g0246 a0001c0004t0001g0247 a0001c0004t0001g0250 a0001c0004t0001g0277 a0001c0004t0001g0278 a0001c0004t0001g0287 a0002c0003t0001g0096 a0002c0003t0001g0097 a0002c0003t0001g0109 a0002c0003t0001g0115 a0002c0003t0001g0209 a0002c0003t0001g0217 a0002c0013t0001g0100 a0002c0013t0001g0101 a0002c0013t0001g0122 a0002c0013t0001g0226 a0002c0023t0001g0104 a0002c0028t0001g0384 a0003c0005t0001g0023 a0003c0005t0001g0112 a0003c0005t0001g0138 a0003c0005t0001g0166 a0003c0005t0001g0167 a0003c0005t0001g0228 a0003c0005t0001g0230 a0003c0005t0001g0232 a0003c0005t0001g0236 a0003c0005t0001g0238 a0003c0005t0001g0239 a0003c0005t0001g0240 a0003c0005t0001g0241 a0003c0005t0001g0248 a0003c0005t0001g0262 a0003c0005t0001g0271 a0004c0006t0001g0005 a0004c0006t0001g0037 a0004c0006t0001g0058 a0004c0006t0001g0124 a0004c0006t0001g0181 a0004c0006t0001g0237 a0004c0006t0001g0274 a0004c0006t0001g0275 a0004c0006t0001g0276 a0004c0006t0001g0299 a0005c0007t0001g0024 a0005c0007t0001g0347 a0005c0007t0001g0348 a0005c0007t0001g0349 a0005c0007t0001g0350 a0005c0007t0001g0351 a0005c0007t0001g0352 a0005c0007t0001g0356 a0006c0025t0001g0375 a0007c0008t0001g0098 a0007c0008t0001g0099 a0007c0008t0001g0102 a0007c0008t0001g0103 a0007c0008t0001g0123 a0007c0008t0001g0127 a0007c0008t0001g0129 a0007c0008t0001g0224 a0008c0009t0001g0363 a0008c0009t0001g0364 a0008c0009t0001g0365 a0008c0009t0001g0367 a0008c0009t0001g0377 a0008c0009t0001g0378 a0008c0009t0001g0380 a0008c0026t0001g0376 a0009c0012t0001g0125 a0009c0012t0001g0137 a0009c0012t0001g0160 a0009c0018t0001g0035 a0010c0011t0001g0027 a0010c0011t0001g0047 a0010c0011t0001g0273 a0011c0014t0001g0366 a0011c0014t0001g0368 a0012c0015t0001g0381 a0012c0015t0001g0382 a0013c0027t0001g0383 a0014c0024t0001g0362 a0016c0016t0001g0033 a0019c0021t0001g0135	216	428	0.5047	-18	c.599 others(35): Show c.599+1342_599+1359delCACACACACACACACACA		OTOP1	ENSG00000163982.6	transcript	ENST00000296358.5	protein_coding	3/5						chr4	TogoVar
OTUD5_chrX_48917024_48962607	48955486	CTTACCTC others(11): Show CTTACCTCTAGACACACAA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	266	0.0038	-18	c.594 others(35): Show c.594+1473_594+1490delTTGTGTGTCTAGAGGTAA		OTUD5	ENSG00000068308.15	transcript	ENST00000376488.8	protein_coding	1/8						chrX	TogoVar
OTUD7A_chr15_31470398_31875673	31570442	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00423.hp2 others(88): Show HG00099.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01517.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp2 HG02132.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02300.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02976.hp2 HG03098.hp1 HG03209.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03831.hp2 HG03942.hp2 HG04204.hp1 NA18612.hp1 NA18939.hp1 NA18943.hp1 NA18944.hp1 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18960.hp2 NA18962.hp1 NA18973.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19043.hp2 NA19065.hp1 NA19066.hp2 NA19083.hp1 NA19085.hp1 NA19088.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0021 a0002c0003 a0002c0005 a0002c0007 a0002c0008 a0002c0014 a0005c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0025 a0001c0001t0040 a0001c0001t0042 a0001c0001t0056 a0001c0001t0072 a0001c0001t0074 a0001c0001t0082 a0001c0002t0001 a0001c0002t0022 a0001c0002t0023 a0001c0002t0041 a0001c0002t0047 a0001c0004t0010 a0001c0004t0027 a0001c0004t0086 a0001c0021t0001 a0002c0003t0003 a0002c0003t0008 a0002c0005t0017 a0002c0005t0038 a0002c0007t0003 a0002c0007t0008 a0002c0008t0009 a0002c0008t0017 a0002c0014t0073 a0005c0020t0075	a0001c0001t0001g0135 a0001c0001t0001g0154 a0001c0001t0001g0236 others(88): Show a0001c0001t0001g0135 a0001c0001t0001g0154 a0001c0001t0001g0236 a0001c0001t0002g0057 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0004g0051 a0001c0001t0004g0091 a0001c0001t0004g0138 a0001c0001t0005g0049 a0001c0001t0005g0108 a0001c0001t0005g0110 a0001c0001t0005g0111 a0001c0001t0005g0113 a0001c0001t0005g0120 a0001c0001t0005g0150 a0001c0001t0005g0232 a0001c0001t0006g0109 a0001c0001t0006g0112 a0001c0001t0006g0115 a0001c0001t0006g0116 a0001c0001t0006g0121 a0001c0001t0006g0122 a0001c0001t0006g0123 a0001c0001t0006g0124 a0001c0001t0006g0136 a0001c0001t0006g0148 a0001c0001t0007g0147 a0001c0001t0013g0023 a0001c0001t0014g0125 a0001c0001t0014g0130 a0001c0001t0014g0144 a0001c0001t0016g0153 a0001c0001t0025g0139 a0001c0001t0025g0152 a0001c0001t0040g0024 a0001c0001t0042g0140 a0001c0001t0056g0045 a0001c0001t0072g0145 a0001c0001t0074g0131 a0001c0001t0082g0137 a0001c0002t0001g0031 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0043 a0001c0002t0001g0046 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0060 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0099 a0001c0002t0001g0114 a0001c0002t0001g0129 a0001c0002t0001g0160 a0001c0002t0001g0175 a0001c0002t0001g0184 a0001c0002t0022g0050 a0001c0002t0023g0033 a0001c0002t0041g0106 a0001c0002t0047g0048 a0001c0004t0010g0026 a0001c0004t0010g0027 a0001c0004t0010g0210 a0001c0004t0010g0216 a0001c0004t0027g0022 a0001c0004t0027g0025 a0001c0004t0086g0230 a0001c0021t0001g0134 a0002c0003t0003g0069 a0002c0003t0003g0141 a0002c0003t0003g0142 a0002c0003t0003g0151 a0002c0003t0008g0040 a0002c0003t0008g0098 a0002c0005t0017g0239 a0002c0005t0038g0079 a0002c0007t0003g0059 a0002c0007t0008g0042 a0002c0007t0008g0062 a0002c0008t0009g0084 a0002c0008t0017g0090 a0002c0014t0073g0028 a0005c0020t0075g0053	91	244	0.3730	-18	c.152 others(33): Show c.152-263_152-246delGTGTGTGTGTGTGTGTGT		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	3/12						chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31651572	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp2 HG02145.hp1 others(7): Show HG01109.hp2 HG01891.hp2 HG02145.hp1 HG02622.hp2 HG02886.hp2 HG02896.hp2 HG02965.hp2 HG03041.hp2 NA18522.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0002c0005 a0002c0014	a0001c0001t0084 a0001c0001t0097 a0001c0002t0020 others(6): Show a0001c0001t0084 a0001c0001t0097 a0001c0002t0020 a0001c0004t0018 a0001c0006t0018 a0001c0006t0087 a0001c0006t0088 a0002c0005t0093 a0002c0014t0094	a0001c0001t0084g0219 a0001c0001t0097g0227 a0001c0002t0020g0168 others(7): Show a0001c0001t0084g0219 a0001c0001t0097g0227 a0001c0002t0020g0168 a0001c0004t0018g0086 a0001c0006t0018g0208 a0001c0006t0018g0215 a0001c0006t0087g0213 a0001c0006t0088g0221 a0002c0005t0093g0003 a0002c0014t0094g0095	10	244	0.0410	-18	c.151 others(35): Show c.151+3506_151+3523delGTGTGTGTGTGTGTGTGT		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	3/12						chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31756627	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp2 HG01175.hp1 others(29): Show HG00642.hp1 HG00741.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01517.hp2 HG01884.hp2 HG02071.hp2 HG02080.hp2 HG02155.hp1 HG02572.hp1 HG02602.hp1 HG02965.hp2 HG02976.hp2 HG03710.hp1 HG03831.hp1 HG03942.hp2 HG06807.hp2 NA18612.hp1 NA18939.hp1 NA18943.hp1 NA18944.hp1 NA18950.hp1 NA18954.hp1 NA18960.hp2 NA18980.hp1 NA18981.hp1 NA18984.hp2 NA18989.hp2 NA18990.hp2 NA19005.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0006 others(5): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0005 a0002c0007 a0002c0008 a0005c0020	a0001c0001t0001 a0001c0001t0005 a0001c0001t0063 others(17): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0063 a0001c0001t0064 a0001c0001t0074 a0001c0002t0001 a0001c0002t0022 a0001c0002t0033 a0001c0002t0047 a0001c0006t0018 a0001c0006t0049 a0002c0003t0003 a0002c0003t0008 a0002c0003t0099 a0002c0005t0038 a0002c0007t0003 a0002c0007t0008 a0002c0008t0009 a0002c0008t0017 a0005c0020t0075	a0001c0001t0001g0030 a0001c0001t0005g0035 a0001c0001t0063g0068 others(29): Show a0001c0001t0001g0030 a0001c0001t0005g0035 a0001c0001t0063g0068 a0001c0001t0064g0097 a0001c0001t0074g0131 a0001c0002t0001g0031 a0001c0002t0001g0036 a0001c0002t0001g0038 a0001c0002t0001g0043 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0060 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0184 a0001c0002t0022g0050 a0001c0002t0033g0206 a0001c0002t0047g0048 a0001c0006t0018g0208 a0001c0006t0049g0211 a0002c0003t0003g0069 a0002c0003t0008g0040 a0002c0003t0099g0244 a0002c0005t0038g0079 a0002c0007t0003g0059 a0002c0007t0008g0042 a0002c0007t0008g0062 a0002c0008t0009g0084 a0002c0008t0017g0090 a0005c0020t0075g0053	32	244	0.1312	-18	c.-99 others(37): Show c.-99-99568_-99-99551delGTGTGTGTGTGTGTGTGT		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12						chr15	TogoVar
OTULIN_chr5_14659718_14704850	14703324	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	354	0.0028	-18	c.10 others(31): Show c.10277_*10294delAAAAAAAAAAAAAAAAAA		OTULIN	ENSG00000154124.6	transcript	ENST00000284274.5	protein_coding					3475		chr5	TogoVar
OVCH1_chr12_29434853_29502686	29449276	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02258.hp2 HG02280.hp2 others(7): Show HG01167.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG03041.hp1 HG03139.hp1 HG03540.hp1 NA18906.hp2 NA19030.hp2	a0011 a0041 a0011 a0041	a0011c0009 a0041c0071 a0011c0009 a0041c0071	a0011c0009t0001 a0041c0071t0001 a0011c0009t0001 a0041c0071t0001	a0011c0009t0001g0010 a0011c0009t0001g0144 a0011c0009t0001g0153 others(6): Show a0011c0009t0001g0010 a0011c0009t0001g0144 a0011c0009t0001g0153 a0011c0009t0001g0154 a0011c0009t0001g0155 a0011c0009t0001g0156 a0011c0009t0001g0157 a0011c0009t0001g0158 a0041c0071t0001g0071	10	400	0.0250	-18	c.286 others(37): Show c.2860+2051_2860+2068delGTGTGTGTGTGTGTGTGT		OVCH1	ENSG00000187950.9	transcript	ENST00000537054.2	protein_coding	22/25						chr12	TogoVar
OVCH1_chr12_29434853_29502686	29476790	CACACACA others(11): Show CACACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00735.hp2 others(15): Show HG00099.hp1 HG00323.hp1 HG00735.hp2 HG01175.hp2 HG01515.hp2 HG01517.hp2 HG01934.hp2 HG02698.hp1 HG02698.hp2 HG03195.hp1 HG03834.hp1 NA18967.hp1 NA18979.hp2 NA18984.hp1 NA19001.hp2 NA19005.hp1 NA19043.hp2 NA19074.hp1	a0002 a0004 a0008 others(1): Show a0002 a0004 a0008 a0010	a0002c0002 a0002c0035 a0002c0036 others(4): Show a0002c0002 a0002c0035 a0002c0036 a0002c0068 a0004c0004 a0008c0008 a0010c0010	a0002c0002t0001 a0002c0035t0001 a0002c0036t0001 others(4): Show a0002c0002t0001 a0002c0035t0001 a0002c0036t0001 a0002c0068t0001 a0004c0004t0001 a0008c0008t0001 a0010c0010t0001	a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 others(15): Show a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0119 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0176 a0002c0002t0001g0178 a0002c0002t0001g0195 a0002c0035t0001g0172 a0002c0036t0001g0095 a0002c0068t0001g0181 a0004c0004t0001g0245 a0004c0004t0001g0292 a0008c0008t0001g0169 a0008c0008t0001g0173 a0010c0010t0001g0354 a0010c0010t0001g0358	18	400	0.0450	-18	c.148 others(35): Show c.1482+294_1482+311delCTGTGTGTGTGTGTGTGT		OVCH1	ENSG00000187950.9	transcript	ENST00000537054.2	protein_coding	12/25						chr12	TogoVar
OVGP1_chr1_111409319_111432735	111428789	AATATATA others(11): Show AATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00735.hp1 others(12): Show HG00280.hp2 HG00639.hp1 HG00735.hp1 HG01106.hp1 HG01943.hp2 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18967.hp1 NA18975.hp2 NA18979.hp1 NA19064.hp1 NA20129.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0015 a0001c0001 a0002c0002 a0006c0015	a0001c0001t0001 a0002c0002t0001 a0006c0015t0001 a0001c0001t0001 a0002c0002t0001 a0006c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0102 a0002c0002t0001g0002 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0102 a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0051 a0006c0015t0001g0019	15	424	0.0354	-18	c.-10 others(29): Show c.-1086_-1069delATATATATATATATATAT		OVGP1	ENSG00000085465.13	transcript	ENST00000369732.4	protein_coding					1055		chr1	TogoVar
OXCT2_chr1_39764523_39776348	39770501	CCCACCTC others(11): Show CCCACCTCCACGATCTCTT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00597.hp2 HG00609.hp2 HG00621.hp2 others(37): Show HG00597.hp2 HG00609.hp2 HG00621.hp2 HG01099.hp1 HG02027.hp1 HG02071.hp2 HG02135.hp2 HG02559.hp2 HG02922.hp2 HG02965.hp2 HG03239.hp1 HG03516.hp1 HG03831.hp1 HG06807.hp1 NA18940.hp2 NA18941.hp1 NA18945.hp2 NA18946.hp2 NA18962.hp1 NA18967.hp2 NA18978.hp2 NA18987.hp1 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA19006.hp1 NA19009.hp1 NA19012.hp1 NA19054.hp2 NA19058.hp1 NA19075.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19091.hp1 NA19240.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0003 a0005 a0010 others(2): Show a0003 a0005 a0010 a0019 a0021	a0003c0004 a0003c0008 a0003c0012 others(5): Show a0003c0004 a0003c0008 a0003c0012 a0003c0013 a0005c0006 a0010c0014 a0019c0025 a0021c0016	a0003c0004t0004 a0003c0008t0001 a0003c0012t0004 others(5): Show a0003c0004t0004 a0003c0008t0001 a0003c0012t0004 a0003c0013t0004 a0005c0006t0004 a0010c0014t0001 a0019c0025t0004 a0021c0016t0001	a0003c0004t0004g0000 a0003c0008t0001g0000 a0003c0012t0004g0000 others(5): Show a0003c0004t0004g0000 a0003c0008t0001g0000 a0003c0012t0004g0000 a0003c0013t0004g0000 a0005c0006t0004g0000 a0010c0014t0001g0000 a0019c0025t0004g0000 a0021c0016t0001g0000	40	454	0.0881	-18	c.737 others(25): Show c.737_754delAAGAGATCGTGGAGGTGG	p.Glu others(13): Show p.Glu246_Val251del	OXCT2	ENSG00000198754.5	transcript	ENST00000327582.5	protein_coding	1/1	847/1826	737/1554	246/517			chr1	TogoVar
OXGR1_chr13_96980713_96999476	96997954	GTAAGCCA others(11): Show GTAAGCCACCTGCTATGCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01106.hp1 HG01109.hp1 others(44): Show HG00733.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01884.hp1 HG01891.hp1 HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02895.hp2 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 NA18522.hp2 NA19030.hp2 NA19043.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0008	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0001c0002t0013 a0001c0002t0014 a0001c0003t0003 a0001c0003t0011 a0001c0003t0012 a0001c0003t0017 a0003c0008t0003	a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0095 others(22): Show a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0095 a0001c0001t0001g0121 a0001c0001t0004g0057 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0061 a0001c0002t0001g0037 a0001c0002t0001g0051 a0001c0002t0001g0124 a0001c0002t0001g0127 a0001c0002t0005g0036 a0001c0002t0007g0027 a0001c0002t0013g0058 a0001c0002t0014g0056 a0001c0003t0003g0013 a0001c0003t0003g0033 a0001c0003t0003g0062 a0001c0003t0003g0125 a0001c0003t0003g0126 a0001c0003t0011g0054 a0001c0003t0012g0055 a0001c0003t0017g0122 a0003c0008t0003g0123	47	462	0.1017	-18	c.-39 others(29): Show c.-3952_-3935delAGCATAGCAGGTGGCTTA		OXGR1	ENSG00000165621.9	transcript	ENST00000541038.2	protein_coding					3479		chr13	TogoVar
OXR1_chr8_106265190_106757694	106339509	AAAAAAAA others(11): Show AAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01256.hp1 NA20752.hp1 HG00741.hp2 HG01256.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0056 a0001c0001t0001g0099 a0001c0001t0003g0142 a0001c0001t0001g0056 a0001c0001t0001g0099 a0001c0001t0003g0142	3	172	0.0174	-18	c.-13 others(39): Show c.-138-19965_-138-19948delAAAAAAAAAATATATATA		OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr8	TogoVar
OXR1_chr8_106265190_106757694	106497795	TGTGTGTG others(11): Show TGTGTGTGTGTGCACACGC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0040 a0001c0001t0013g0040	1	172	0.0058	-18	c.24- others(35): Show c.24-21136_24-21119delCACACGCGTGTGTGTGTG		OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr8	TogoVar
OXR1_chr8_106265190_106757694	106739075	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0041	1	172	0.0058	-18	c.203 others(35): Show c.2038-355_2038-338delCACACACACACACACACA		OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	12/16					INFO_REALIGN_3_PRIME	chr8	TogoVar
OXSR1_chr3_38160537_38260484	38162279	CATATATT others(11): Show CATATATTATATATTTCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01516.hp1 HG02148.hp1 others(2): Show HG01109.hp1 HG01516.hp1 HG02148.hp1 HG03195.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0025 a0001c0001t0001g0140 a0001c0001t0001g0141 others(2): Show a0001c0001t0001g0025 a0001c0001t0001g0140 a0001c0001t0001g0141 a0002c0002t0001g0182 a0002c0002t0001g0183	5	248	0.0202	-18	c.-35 others(29): Show c.-3597_-3580delATATATTATATATTTCAT		OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding					3257		chr3	TogoVar
OXSR1_chr3_38160537_38260484	38227545	CCACACAC others(11): Show CCACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0151	1	248	0.0040	-18	c.837 others(35): Show c.837-2117_837-2100delCACACACACACACACACA		OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding	8/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
OXSR1_chr3_38160537_38260484	38259441	CATATATA others(11): Show CATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG02293.hp2 HG03688.hp1 HG01258.hp2 HG02293.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0158 a0001c0001t0003g0173 a0001c0001t0003g0241 a0001c0001t0003g0158 a0001c0001t0003g0173 a0001c0001t0003g0241	3	248	0.0121	-18	c.65 others(29): Show c.6551_*6568delATATATATATATATATAT		OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding					3958		chr3	TogoVar
P2RX2_chr12_132613776_132627388	132616986	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	386	0.0026	-18	c.-18 others(29): Show c.-1830_-1813delTGTGTGTGTGTGTGTGTG		P2RX2	ENSG00000187848.15	transcript	ENST00000643471.2	protein_coding					1789		chr12	TogoVar
P2RX4_chr12_121205129_121239106	121230241	GGCATGGT others(11): Show GGCATGGTGGCGCATGCCT	G G	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	388	0.0026	-18	c.884 others(35): Show c.884+1144_884+1161delCATGGTGGCGCATGCCTG		P2RX4	ENSG00000135124.16	transcript	ENST00000337233.9	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX5_chr17_3668227_3701155	3689141	CTGCCACA others(11): Show CTGCCACAGCCTGCCTGTG	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02074.hp1 HG02155.hp1 others(8): Show HG00733.hp1 HG02074.hp1 HG02155.hp1 HG02630.hp1 HG02723.hp1 HG02896.hp1 HG02897.hp2 NA18964.hp1 NA18971.hp2 NA18974.hp2 NA19087.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0047 a0001c0001t0001g0145 a0001c0003t0001g0285 others(7): Show a0001c0001t0001g0047 a0001c0001t0001g0145 a0001c0003t0001g0285 a0001c0005t0001g0101 a0002c0002t0001g0005 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0102 a0002c0002t0001g0103 a0003c0004t0001g0325	11	362	0.0304	-18	c.753 others(33): Show c.753+333_753+350delCACAGGCAGGCTGTGGCA		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	7/11						chr17	TogoVar
P2RX5_chr17_3668227_3701155	3689876	ACACGCAC others(11): Show ACACGCACACACACAAACG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02647.hp1 NA18906.hp2 HG02559.hp1 HG02647.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0286 a0001c0001t0001g0296 a0001c0001t0001g0242 a0001c0001t0001g0286 a0001c0001t0001g0296	3	362	0.0083	-18	c.614 others(33): Show c.614+176_614+193delCGTTTGTGTGTGTGCGTG		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	6/11						chr17	TogoVar
P2RY11_chr19_10106693_10120372	10115859	ACTGCCCA others(11): Show ACTGCCCAGCCCTCGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG02132.hp1 HG02257.hp1 others(6): Show HG00140.hp1 HG02132.hp1 HG02257.hp1 HG02280.hp1 HG02559.hp1 HG02572.hp1 HG02717.hp1 HG02976.hp2 HG03471.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0014 others(1): Show a0001c0001 a0001c0002 a0001c0014 a0009c0020	a0001c0001t0007 a0001c0002t0003 a0001c0002t0004 others(2): Show a0001c0001t0007 a0001c0002t0003 a0001c0002t0004 a0001c0014t0004 a0009c0020t0004	a0001c0001t0007g0001 a0001c0002t0003g0002 a0001c0002t0004g0011 others(3): Show a0001c0001t0007g0001 a0001c0002t0003g0002 a0001c0002t0004g0011 a0001c0002t0004g0038 a0001c0014t0004g0011 a0009c0020t0004g0011	9	452	0.0199	-18	c.11 others(29): Show c.1122_*1139delCTGCCCAGCCCTCGTGTG		P2RY11	ENSG00000244165.2	transcript	ENST00000321826.5	protein_coding					488		chr19	TogoVar
P2RY14_chr3_151207117_151283542	151269397	TCACACAC others(11): Show TCACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	404	0.0025	-18	c.-13 others(37): Show c.-133+8872_-133+8889delTGTGTGTGTGTGTGTGTG		P2RY14	ENSG00000174944.9	transcript	ENST00000309170.8	protein_coding	1/2						chr3	TogoVar
P3H2_chr3_189951728_190125897	189959860	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02055.hp1 HG02970.hp2 others(4): Show HG01934.hp2 HG02055.hp1 HG02970.hp2 HG03098.hp2 HG03453.hp1 HG03540.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0013 a0001c0001t0005 a0001c0002t0013	a0001c0001t0005g0024 a0001c0001t0005g0028 a0001c0001t0005g0075 others(4): Show a0001c0001t0005g0024 a0001c0001t0005g0028 a0001c0001t0005g0075 a0001c0001t0005g0079 a0001c0001t0005g0287 a0001c0001t0005g0288 a0001c0002t0013g0135	7	304	0.0230	-18	c.203 others(37): Show c.2035-1874_2035-1857delCACACACACACACACACA		P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	14/14						chr3	TogoVar
P3H2_chr3_189951728_190125897	190041037	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02622.hp2 HG02647.hp2 others(3): Show HG02257.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG03139.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0019 a0001c0001 a0002c0019	a0001c0001t0005 a0001c0001t0014 a0002c0019t0015 a0001c0001t0005 a0001c0001t0014 a0002c0019t0015	a0001c0001t0005g0011 a0001c0001t0005g0024 a0001c0001t0005g0044 others(3): Show a0001c0001t0005g0011 a0001c0001t0005g0024 a0001c0001t0005g0044 a0001c0001t0014g0027 a0001c0001t0014g0247 a0002c0019t0015g0303	6	304	0.0197	-18	c.481 others(37): Show c.481-45613_481-45596delGTGTGTGTGTGTGTGTGT		P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14						chr3	TogoVar

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