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
OSTF1_chr9_75083514_75152265	75139056	T T	TTCTTTCT others(18): Show TTCTTTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0053 a0001c0001t0013g0053	1	348	0.0029	25	c.487 others(42): Show c.487+1441_487+1442insCTTTCTTTCTTTCTTTCTTTCTTCT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OSTM1_chr6_108036409_108079741	108076989	G G	GACTGGGT others(18): Show GACTGGGTGACAGAGCGAGACTCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02257.hp1 HG02257.hp2 others(2): Show HG02109.hp1 HG02257.hp1 HG02257.hp2 HG02886.hp2 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0035 a0004c0005t0017 a0004c0005t0038 others(1): Show a0001c0001t0035 a0004c0005t0017 a0004c0005t0038 a0004c0005t0045	a0001c0001t0035g0187 a0004c0005t0017g0273 a0004c0005t0017g0274 others(2): Show a0001c0001t0035g0187 a0004c0005t0017g0273 a0004c0005t0017g0274 a0004c0005t0038g0271 a0004c0005t0045g0272	5	386	0.0130	25	c.-23 others(36): Show c.-2339_-2338insATGGAGTCTCGCTCTGTCACCCAGT	OSTM1	ENSG00000081087.16	transcript	ENST00000193322.8	protein_coding		2249		chr6	TogoVar
OTOGL_chr12_80094537_80385880	80135277	C C	CCCCTCCC others(18): Show CCCCTCCCCTCCCCTCCCCTCCCCTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00733.hp1 HG01109.hp2 others(26): Show HG00621.hp1 HG00733.hp1 HG01109.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01361.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02630.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG03225.hp2 HG03453.hp1 HG04199.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19043.hp1 NA19058.hp2 NA19077.hp1 NA19090.hp2 NA20300.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0012 a0013 a0024 a0026 a0027	a0001c0001 a0002c0003 a0002c0006 others(13): Show a0001c0001 a0002c0003 a0002c0006 a0002c0018 a0003c0002 a0003c0008 a0005c0004 a0005c0039 a0006c0009 a0007c0017 a0008c0013 a0012c0014 a0013c0022 a0024c0037 a0026c0026 a0027c0034	a0001c0001t0001 a0001c0001t0011 a0002c0003t0002 others(17): Show a0001c0001t0001 a0001c0001t0011 a0002c0003t0002 a0002c0006t0002 a0002c0018t0001 a0003c0002t0002 a0003c0002t0004 a0003c0002t0005 a0003c0008t0002 a0003c0008t0005 a0005c0004t0003 a0005c0039t0003 a0006c0009t0007 a0007c0017t0006 a0008c0013t0004 a0012c0014t0003 a0013c0022t0002 a0024c0037t0002 a0026c0026t0009 a0027c0034t0002	a0001c0001t0001g0041 a0001c0001t0001g0055 a0001c0001t0001g0065 others(26): Show a0001c0001t0001g0041 a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0079 a0001c0001t0011g0063 a0002c0003t0002g0023 a0002c0003t0002g0025 a0002c0003t0002g0032 a0002c0003t0002g0078 a0002c0003t0002g0082 a0002c0003t0002g0083 a0002c0006t0002g0064 a0002c0018t0001g0033 a0003c0002t0002g0030 a0003c0002t0004g0056 a0003c0002t0005g0054 a0003c0008t0002g0011 a0003c0008t0005g0077 a0005c0004t0003g0049 a0005c0039t0003g0081 a0006c0009t0007g0034 a0007c0017t0006g0062 a0008c0013t0004g0026 a0012c0014t0003g0010 a0013c0022t0002g0047 a0024c0037t0002g0059 a0026c0026t0009g0048 a0027c0034t0002g0031	29	123	0.2358	25	c.-20 others(44): Show c.-20+35676_-20+35677insCCCCTCCCCTCCCCTCCCCTTCCCT	OTOGL	ENSG00000165899.12	transcript	ENST00000547103.7	protein_coding	1/58		INFO_REALIGN_3_PRIME	chr12	TogoVar
OTOG_chr11_17542259_17651044	17559909	G G	GAAGGAAA others(18): Show GAAGGAAAGAAGGAAGGGAGGAAGAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp1 others(24): Show HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00735.hp1 HG01884.hp1 HG02055.hp1 HG02145.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG03195.hp2 HG03453.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp2 HG03927.hp1 NA18906.hp2 NA18967.hp1 NA18988.hp2 NA18989.hp2 NA19000.hp2 NA19064.hp2 NA19086.hp2 NA19091.hp1	a0001 a0002 a0006 others(14): Show a0001 a0002 a0006 a0008 a0014 a0020 a0023 a0027 a0048 a0071 a0072 a0089 a0093 a0096 a0100 a0114 a0118	a0001c0003 a0001c0060 a0002c0057 others(17): Show a0001c0003 a0001c0060 a0002c0057 a0002c0058 a0002c0059 a0006c0076 a0008c0108 a0014c0171 a0020c0017 a0023c0134 a0027c0018 a0048c0038 a0071c0056 a0072c0037 a0089c0113 a0093c0139 a0096c0081 a0100c0036 a0114c0068 a0118c0061	a0001c0003t0001 a0001c0060t0001 a0002c0057t0001 others(17): Show a0001c0003t0001 a0001c0060t0001 a0002c0057t0001 a0002c0058t0001 a0002c0059t0001 a0006c0076t0001 a0008c0108t0001 a0014c0171t0001 a0020c0017t0001 a0023c0134t0002 a0027c0018t0002 a0048c0038t0001 a0071c0056t0001 a0072c0037t0001 a0089c0113t0001 a0093c0139t0002 a0096c0081t0001 a0100c0036t0001 a0114c0068t0001 a0118c0061t0001	a0001c0003t0001g0071 a0001c0003t0001g0161 a0001c0003t0001g0163 others(24): Show a0001c0003t0001g0071 a0001c0003t0001g0161 a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0003t0001g0165 a0001c0003t0001g0226 a0001c0060t0001g0022 a0002c0057t0001g0259 a0002c0058t0001g0187 a0002c0059t0001g0162 a0006c0076t0001g0213 a0008c0108t0001g0250 a0014c0171t0001g0148 a0020c0017t0001g0173 a0020c0017t0001g0175 a0023c0134t0002g0027 a0027c0018t0002g0070 a0027c0018t0002g0093 a0048c0038t0001g0005 a0071c0056t0001g0023 a0072c0037t0001g0003 a0089c0113t0001g0154 a0093c0139t0002g0026 a0096c0081t0001g0010 a0100c0036t0001g0004 a0114c0068t0001g0036 a0118c0061t0001g0166	27	214	0.1262	25	c.134 others(42): Show c.1342+267_1342+268insAAGAAAAGGAAAGAAGGAAGGGAGG	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	12/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOP1_chr4_4183726_4231929	4221043	C C	CTATTTTA others(18): Show CTATTTTATTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0361 a0011c0014t0001g0361	1	82	0.0122	25	c.403 others(42): Show c.403+5394_403+5418dupAAATAAAATAAAATAAAATAAAATA	OTOP1	ENSG00000163982.6	transcript	ENST00000296358.5	protein_coding	1/5			chr4	TogoVar
OTUD6A_chrX_70057457_70069179	70061272	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG02109.hp2 HG03471.hp1 others(3): Show HG01255.hp1 HG02109.hp2 HG03471.hp1 NA18963.hp1 NA19043.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0004c0005t0001 a0001c0001t0001 a0001c0001t0002 a0004c0005t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0004c0005t0001g0000 a0001c0001t0001g0000 a0001c0001t0002g0000 a0004c0005t0001g0000	6	12	0.5000	25	c.-12 others(36): Show c.-1253_-1252insAAAAAAAAAAAAAAAAAAAAAAAAA	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding		1184		chrX	TogoVar
OTUD7A_chr15_31470398_31875673	31510505	T T	TACATACA others(18): Show TACATACATATGTATATCTATATGTA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0052 a0002c0003t0003g0052	1	241	0.0041	25	c.894 others(42): Show c.894-6688_894-6687insTACATATAGATATACATATGTATGT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31610617	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	8	0.1250	25	c.152 others(44): Show c.152-40421_152-40420insAAAAAAAAATATATATATATATATA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	3/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31610617	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0234 a0001c0001t0005g0234	1	8	0.1250	25	c.152 others(44): Show c.152-40421_152-40420insAAAAAAAAAAATATATATATATATA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	3/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31610617	A A	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02132.hp2 NA18973.hp2 others(2): Show HG01975.hp2 HG02132.hp2 NA18973.hp2 NA18980.hp2 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0002 a0001c0001t0015 a0002c0008t0060 a0001c0001t0002 a0001c0001t0015 a0002c0008t0060	a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0185 others(2): Show a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0015g0175 a0002c0008t0060g0171	5	12	0.4167	25	c.152 others(44): Show c.152-40421_152-40420insAAAAAAAAAAAAATATATATATATA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	3/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31610617	A A	ATATATAT others(18): Show ATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18944.hp2 NA18986.hp1 others(2): Show HG00544.hp1 NA18944.hp2 NA18986.hp1 NA18995.hp2 NA19090.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0013 a0001c0001 a0004c0013	a0001c0001t0002 a0001c0001t0028 a0001c0001t0059 others(1): Show a0001c0001t0002 a0001c0001t0028 a0001c0001t0059 a0004c0013t0004	a0001c0001t0002g0157 a0001c0001t0002g0194 a0001c0001t0028g0180 others(2): Show a0001c0001t0002g0157 a0001c0001t0002g0194 a0001c0001t0028g0180 a0001c0001t0059g0169 a0004c0013t0004g0189	5	12	0.4167	25	c.152 others(44): Show c.152-40421_152-40420insAAAAAAAAAAAAAAATATATATATA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	3/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31610617	A A	ATATATAT others(18): Show ATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02071.hp1 NA18960.hp1 HG00438.hp1 HG02071.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0167 a0001c0001t0002g0178 a0001c0002t0001g0155 a0001c0001t0002g0167 a0001c0001t0002g0178 a0001c0002t0001g0155	3	10	0.3000	25	c.152 others(44): Show c.152-40421_152-40420insAAAAAAAAAAAAAAAAATATATATA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	3/12			chr15	TogoVar
OXGR1_chr13_96980713_96999476	96990946	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0061 a0001c0001t0004g0061	1	151	0.0066	25	c.-12 others(44): Show c.-126-1138_-126-1137insTTTTTTTTTTTTTTTTTTTTTTTTT	OXGR1	ENSG00000165621.9	transcript	ENST00000541038.2	protein_coding	2/3			chr13	TogoVar
OXR1_chr8_106265190_106757694	106671044	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	81	0.0123	25	c.221 others(42): Show c.221-8147_221-8146insAAAAAAAAAAAAAAAAAAAAAAAAA	OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
OXR1_chr8_106265190_106757694	106694922	T T	TATATTTA others(18): Show TATATTTATATATATATAAATATAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG02145.hp2 others(1): Show HG01257.hp1 HG01258.hp2 HG02145.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0048 a0001c0001t0001g0060 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0048 a0001c0001t0001g0060 a0001c0001t0001g0061	4	170	0.0235	25	c.675 others(42): Show c.675+2060_675+2084dupATAAATATAAAATATTTATATATAT	OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
OXTR_chr3_8745381_8774613	8773138	T T	TATCTATA others(18): Show TATCTATATATATCTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	423	0.0024	25	c.-41 others(36): Show c.-4171_-4147dupTATATATATATAGATATATATAGAT	OXTR	ENSG00000180914.11	transcript	ENST00000316793.8	protein_coding		3526		chr3	TogoVar
OXTR_chr3_8745381_8774613	8773207	A A	ATATATAA others(18): Show ATATATAATCTATATATATCTATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0198 a0002c0003t0002g0198	1	295	0.0034	25	c.-42 others(36): Show c.-4240_-4216dupGATATAGATATATATAGATTATATA	OXTR	ENSG00000180914.11	transcript	ENST00000316793.8	protein_coding		3595		chr3	TogoVar
P2RX2_chr12_132613776_132627388	132618236	A A	AGAAAGAA others(18): Show AGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	101	0.0099	25	c.-58 others(34): Show c.-581_-580insGAAAGAAAGAAAGAAAGAAAGAAAG	P2RX2	ENSG00000187848.15	transcript	ENST00000643471.2	protein_coding		539		chr12	TogoVar
P2RX4_chr12_121205129_121239106	121212824	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0034 a0001c0004t0001g0034	1	47	0.0213	25	c.134 others(42): Show c.134+2527_134+2528insATATATATATATATATATATTTTTT	P2RX4	ENSG00000135124.16	transcript	ENST00000337233.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136017	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0004 a0004c0003t0004	a0004c0003t0004g0206 a0004c0003t0004g0206	1	364	0.0027	25	c.125 others(42): Show c.125+2922_125+2923insTATATATATATATATATATATATAT	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12			chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18963.hp2 NA19240.hp2 HG02451.hp2 NA18963.hp2 NA19240.hp2	a0001 a0007 a0016 a0001 a0007 a0016	a0001c0001 a0007c0008 a0016c0016 a0001c0001 a0007c0008 a0016c0016	a0001c0001t0001 a0007c0008t0001 a0016c0016t0002 a0001c0001t0001 a0007c0008t0001 a0016c0016t0002	a0001c0001t0001g0076 a0007c0008t0001g0074 a0016c0016t0002g0075 a0001c0001t0001g0076 a0007c0008t0001g0074 a0016c0016t0002g0075	3	43	0.0698	25	c.125 others(42): Show c.125+2929_125+2930insAAAAAAAAAAATATATATATATATA	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(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0014 a0014	a0014c0012 a0014c0012	a0014c0012t0006 a0014c0012t0006	a0014c0012t0006g0154 a0014c0012t0006g0154	1	41	0.0244	25	c.125 others(42): Show c.125+2929_125+2930insAAAAAAAAATATATATATATATATA	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0032 a0004c0003t0032	a0004c0003t0032g0200 a0004c0003t0032g0200	1	41	0.0244	25	c.125 others(42): Show c.125+2928_125+2929insTATATATATATATATATATATATAT	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12			chr12	TogoVar
P2RY10_chrX_78940391_78968727	78965403	A A	ATTTTCTT others(18): Show ATTTTCTTTTCTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	187	0.0053	25	c.38 others(36): Show c.3863_*3864insTTTTCTTTTCTTCTTTCTTTCTTTC	P2RY10	ENSG00000078589.13	transcript	ENST00000171757.3	protein_coding		1677		chrX	TogoVar
P2RY10_chrX_78940391_78968727	78965725	T T	TTTCCTTC others(18): Show TTTCCTTCCTTTCTTTCCTTCCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	320	0.0031	25	c.41 others(36): Show c.4185_*4186insTTCCTTCCTTTCTTTCCTTCCTTCC	P2RY10	ENSG00000078589.13	transcript	ENST00000171757.3	protein_coding		1999		chrX	TogoVar
P2RY1_chr3_152830131_152846439	152830688	T T	TTTATTAT others(18): Show TTTATTATTATTAATTATTATTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA19010.hp1 NA19086.hp1 NA18983.hp1 NA19010.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	3	155	0.0194	25	c.-50 others(36): Show c.-5095_-5094insTTATTATTATTAATTATTATTATTA	P2RY1	ENSG00000169860.7	transcript	ENST00000305097.6	protein_coding		4442		chr3	TogoVar
P2RY8_chrX_1457581_1542185	1514693	T T	TTCCTCCC others(18): Show TTCCTCCCCTCCTTTCCCTTCCCTTC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	26	0.0385	25	c.-25 others(44): Show c.-25+22227_-25+22228insGAAGGGAAGGGAAAGGAGGGGAGGA	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P2RY8_chrX_1457581_1542185	1515795	G G	GGGGTGAT others(18): Show GGGGTGATATAAACCTTCAGACAATA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	113	0.0088	25	c.-25 others(44): Show c.-25+21125_-25+21126insTATTGTCTGAAGGTTTATATCACCC	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PABIR1_chr9_68775065_68790566	68788474	T T	TTTTTGTT others(18): Show TTTTTGTTTTGTTTTGTTTTGTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp2 HG02004.hp1 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	30	0.0667	25	c.74 others(36): Show c.7446_*7447insTTTTGTTTTGTTTTGTTTTGTTTTG	PABIR1	ENSG00000187866.10	transcript	ENST00000394264.7	protein_coding		2909		chr9	TogoVar
PABPC1L2B_chrX_72997939_73011106	73006364	A A	ATTCTTAG others(18): Show ATTCTTAGTCTCCTATAATTTTATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(64): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00621.hp1 HG00639.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01993.hp2 HG02080.hp2 HG02109.hp2 HG02145.hp1 HG02273.hp1 HG02523.hp1 HG02602.hp1 HG02615.hp2 HG02698.hp1 HG02717.hp2 HG02809.hp1 HG02897.hp1 HG03017.hp1 HG03195.hp1 HG03225.hp1 HG03490.hp1 HG03540.hp1 HG03654.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0001t0001 a0001c0001t0002 a0001c0001t0017	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0017g0000 a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0017g0000	67	292	0.2295	25	c.21 others(36): Show c.2119_*2120insTTCTTAGTCTCCTATAATTTTATTT	PABPC1L2B	ENSG00000184388.6	transcript	ENST00000373521.4	protein_coding		259		chrX	TogoVar
PABPC1L_chr20_44905060_44944316	44931005	C C	CTTCCTTC others(18): Show CTTCCTTCCTTCCTTCCTCCCTTCCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02572.hp1 HG02622.hp1 others(5): Show HG00639.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG03017.hp2 HG03471.hp1 HG06807.hp2 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0006 a0001c0001 a0002c0002 a0003c0006	a0001c0001t0001 a0002c0002t0002 a0003c0006t0002 a0001c0001t0001 a0002c0002t0002 a0003c0006t0002	a0001c0001t0001g0107 a0002c0002t0002g0174 a0003c0006t0002g0010 others(3): Show a0001c0001t0001g0107 a0002c0002t0002g0174 a0003c0006t0002g0010 a0003c0006t0002g0044 a0003c0006t0002g0045 a0003c0006t0002g0046	8	386	0.0207	25	c.123 others(42): Show c.1239+280_1239+281insTCCTTCCTTCCTTCCTCCCTTCCTT	PABPC1L	ENSG00000101104.13	transcript	ENST00000217073.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
PABPC1L_chr20_44905060_44944316	44931005	C C	CTTCCTTC others(18): Show CTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02300.hp1 HG02630.hp2 others(5): Show HG01243.hp1 HG02300.hp1 HG02630.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp2 NA19240.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0003 a0001c0005t0002 a0001c0005t0003	a0001c0005t0002g0006 a0001c0005t0002g0052 a0001c0005t0002g0216 others(1): Show a0001c0005t0002g0006 a0001c0005t0002g0052 a0001c0005t0002g0216 a0001c0005t0003g0048	8	386	0.0207	25	c.123 others(42): Show c.1239+280_1239+281insTCCTTCCTTCCTTCCTTCCTTCCTT	PABPC1L	ENSG00000101104.13	transcript	ENST00000217073.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
PABPC4_chr1_39555816_39581790	39558101	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	13	0.0769	25	c.30 others(36): Show c.3034_*3035insAAAAAAAAAAAAAAAAAAAAAAAAA	PABPC4	ENSG00000090621.15	transcript	ENST00000372858.8	protein_coding		2714		chr1	TogoVar
PACRG_chr6_162722974_163320500	162851997	G G	GAGGAAGG others(18): Show GAGGAAGGAAGGAAGGAAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0068	1	111	0.0090	25	c.291 others(44): Show c.291+37719_291+37720insAAGGAAGGAAGGAAAGGAAGGAAGG	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162852001	G G	GAGGAAGG others(18): Show GAGGAAGGAAGGAAGGAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03486.hp2 HG02109.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0018 a0001c0001t0003g0016 a0001c0001t0003g0018	2	100	0.0200	25	c.291 others(44): Show c.291+37723_291+37724insAAGGAAGGAAGGAAGGAAAGGAAGG	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162852005	G G	GAGGAAGG others(18): Show GAGGAAGGAAGGAAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0027 a0001c0002t0010g0027	1	66	0.0152	25	c.291 others(44): Show c.291+37737_291+37738insAGGAAGGAAGGAAGGAAGGAAGGAA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163177710	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	18	0.0556	25	c.613 others(44): Show c.613+88305_613+88329dupTTTTTTTTTTTTTTTTTTTTTTTTT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163224368	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01257.hp1 HG01361.hp1 others(2): Show HG01109.hp2 HG01257.hp1 HG01361.hp1 HG02886.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0012	a0001c0001t0001g0098 a0001c0001t0001g0118 a0001c0001t0002g0035 others(2): Show a0001c0001t0001g0098 a0001c0001t0001g0118 a0001c0001t0002g0035 a0001c0001t0005g0079 a0001c0001t0012g0010	5	12	0.4167	25	c.614 others(44): Show c.614-90457_614-90433dupAAAAAAAAAAAAAAAAAAAAAAAAA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACS1_chr11_66065272_66249744	66202742	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	198	0.0051	25	c.445 others(42): Show c.445-7619_445-7618insAAAAAAAAATATATATATATATATA	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PACSIN1_chr6_34461076_34540223	34486711	T T	TCTGTGGG others(18): Show TCTGTGGGCCCCTCTCTTTCCTCCTG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01928.hp2 HG01975.hp1 others(17): Show HG00621.hp2 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02293.hp1 NA18612.hp2 NA18940.hp1 NA18956.hp2 NA18957.hp2 NA18964.hp1 NA18970.hp1 NA18975.hp1 NA18989.hp2 NA18990.hp2 NA18999.hp2 NA19054.hp2 NA19068.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0001 a0001c0001t0003 a0001c0003t0001	a0001c0001t0003g0058 a0001c0001t0003g0084 a0001c0001t0003g0232 others(17): Show a0001c0001t0003g0058 a0001c0001t0003g0084 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0283 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0003t0001g0267	20	308	0.0649	25	c.-64 others(44): Show c.-64+20442_-64+20443insTGTGGGCCCCTCTCTTTCCTCCTGC	PACSIN1	ENSG00000124507.11	transcript	ENST00000244458.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACSIN2_chr22_42864773_43020149	42984309	C C	CTCAATGA others(18): Show CTCAATGAAAAGAAACAACTATATAA	intron_variant intron_variant	MODIFIER	HG01517.hp1 NA20805.hp2 HG01517.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0259 a0001c0001t0002g0261	2	292	0.0068	25	c.-78 others(44): Show c.-78+30687_-78+30711dupTTATATAGTTGTTTCTTTTCATTGA	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	43010398	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0033 a0001c0002t0003g0033	1	86	0.0116	25	c.-78 others(42): Show c.-78+4622_-78+4623insAAAAATATATATATATATATATATA	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	43010398	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0168 a0002c0004t0003g0168	1	86	0.0116	25	c.-78 others(42): Show c.-78+4622_-78+4623insAAAAAAATATATATATATATATATA	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PADI1_chr1_17200128_17251007	17248636	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0067	1	231	0.0043	25	c.43 others(36): Show c.4393_*4394insAAAAAAAAAAAAAAAAAAAAAAAAA	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding		2630		chr1	TogoVar
PAF1_chr19_39380629_39396106	39383115	T T	TCCCTCCT others(18): Show TCCCTCCTCCCAGCCTCCTTCTCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0026 a0003c0008t0001g0026	1	366	0.0027	25	c.28 others(36): Show c.2875_*2876insGGAGAGAAGGAGGCTGGGAGGAGGG	PAF1	ENSG00000006712.15	transcript	ENST00000221265.8	protein_coding		2513		chr19	TogoVar
PAGR1_chr16_29811152_29827489	29815724	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0023 a0001c0001t0031g0023	1	85	0.0118	25	c.-80 others(34): Show c.-802_-801insAAAAAAAAAAAAAAAAAAAAAAAAA	PAGR1	ENSG00000280789.2	transcript	ENST00000320330.8	protein_coding		427		chr16	TogoVar
PAH_chr12_102831889_102922244	102895869	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0295 a0001c0004t0008g0295	1	170	0.0059	25	c.169 others(40): Show c.169-952_169-951insATATATATATATATATATATATATT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	2/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102899858	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA18963.hp1 NA21309.hp1 HG04204.hp1 NA18963.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0003t0001g0199 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0003t0001g0199	3	44	0.0682	25	c.169 others(42): Show c.169-4965_169-4941dupTTTTTTTTTTTTTTTTTTTTTTTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	2/12			chr12	TogoVar
PAIP1_chr5_43521267_43562077	43531656	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp2 NA18962.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0272 a0001c0001t0001g0229 a0001c0001t0001g0272	2	18	0.1111	25	c.125 others(44): Show c.1253-1778_1253-1777insTTTTTTTTTTTTTTTTTTTTTTTTT	PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding	9/10			chr5	TogoVar
PAK1_chr11_77317017_77479094	77429056	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	116	0.0086	25	c.-21 others(44): Show c.-21-36540_-21-36516dupTTTTTTTTTTTTTTTTTTTTTTTTT	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14			chr11	TogoVar

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