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
OTOA_chr16_21658968_21765729	21714334	T T	TTCCTTCC others(16): Show TTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0002 a0009c0014t0002	a0009c0014t0002g0319 a0009c0014t0002g0319	1	318	0.0031	23	c.132 others(40): Show c.1321-650_1321-649insCCTTCCTTCCTTCCTTCCTTCCT	OTOA	ENSG00000155719.18	transcript	ENST00000646100.2	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr16	TogoVar
OTUD6A_chrX_70057457_70069179	70061272	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG02155.hp1 HG02155.hp2 others(3): Show HG00597.hp2 HG02155.hp1 HG02155.hp2 HG03041.hp2 HG03130.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0001g0000 a0001c0001t0002g0000	6	12	0.5000	23	c.-12 others(34): Show c.-1253_-1252insAAAAAAAAAAAAAAAAAAAAAAA	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding		1184		chrX	TogoVar
OTUD7A_chr15_31470398_31875673	31610617	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0063 a0001c0001t0029g0063	1	8	0.1250	23	c.152 others(42): Show c.152-40421_152-40420insAAAAAAATATATATATATATATA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	3/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31610617	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0023 a0001c0004t0010 a0001c0002t0023 a0001c0004t0010	a0001c0002t0023g0209 a0001c0004t0010g0210 a0001c0002t0023g0209 a0001c0004t0010g0210	2	9	0.2222	23	c.152 others(42): Show c.152-40421_152-40420insAAAAAAAAAAATATATATATATA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	3/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31610617	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG03834.hp2 NA18962.hp2 HG01071.hp1 HG03834.hp2 NA18962.hp2	a0002 a0002	a0002c0003 a0002c0007 a0002c0003 a0002c0007	a0002c0003t0009 a0002c0003t0077 a0002c0007t0003 a0002c0003t0009 a0002c0003t0077 a0002c0007t0003	a0002c0003t0009g0002 a0002c0003t0077g0144 a0002c0007t0003g0159 a0002c0003t0009g0002 a0002c0003t0077g0144 a0002c0007t0003g0159	3	10	0.3000	23	c.152 others(42): Show c.152-40421_152-40420insAAAAAAAAAAAAATATATATATA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	3/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31610617	A A	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA19088.hp1 HG02080.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0004 a0001c0016t0001 a0001c0001t0004 a0001c0016t0001	a0001c0001t0004g0181 a0001c0016t0001g0040 a0001c0001t0004g0181 a0001c0016t0001g0040	2	9	0.2222	23	c.152 others(42): Show c.152-40421_152-40420insAAAAAAAAAAAAAAATATATATA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	3/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31610617	A A	ATATATAT others(16): Show ATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0071 a0001c0001t0007g0071	1	8	0.1250	23	c.152 others(42): Show c.152-40421_152-40420insAAAAAAAAAAAAAAAAATATATA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	3/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31663246	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0057 a0003c0010t0057	a0003c0010t0057g0224 a0003c0010t0057g0224	1	73	0.0137	23	c.-99 others(40): Show c.-99-6170_-99-6169insGTGTGTGTGTGTGTGTGTGTGTG	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OVCH1_chr12_29434853_29502686	29488620	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01433.hp1 HG00735.hp2 HG01433.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0168 a0008c0008t0001g0169 a0008c0008t0001g0168 a0008c0008t0001g0169	2	164	0.0122	23	c.703 others(38): Show c.703-761_703-739dupTTTTTTTTTTTTTTTTTTTTTTT	OVCH1	ENSG00000187950.9	transcript	ENST00000537054.2	protein_coding	6/25			chr12	TogoVar
OVCH2_chr11_7684437_7711477	7685649	T T	TCCAGCCA others(16): Show TCCAGCCACAGCTCCTGCCCTTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01891.hp2 HG02451.hp2 others(15): Show HG00642.hp1 HG01891.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp2 NA18962.hp1 NA18972.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0007 a0009 a0025 a0026	a0001c0001 a0002c0002 a0003c0008 others(7): Show a0001c0001 a0002c0002 a0003c0008 a0004c0004 a0007c0009 a0007c0039 a0007c0040 a0009c0010 a0025c0028 a0026c0037	a0001c0001t0001 a0001c0001t0004 a0002c0002t0004 others(9): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0004 a0003c0008t0004 a0004c0004t0001 a0004c0004t0004 a0007c0009t0004 a0007c0039t0001 a0007c0040t0004 a0009c0010t0001 a0025c0028t0002 a0026c0037t0004	a0001c0001t0001g0004 a0001c0001t0001g0055 a0001c0001t0004g0034 others(15): Show a0001c0001t0001g0004 a0001c0001t0001g0055 a0001c0001t0004g0034 a0002c0002t0004g0069 a0002c0002t0004g0116 a0002c0002t0004g0118 a0002c0002t0004g0130 a0003c0008t0004g0112 a0004c0004t0001g0045 a0004c0004t0001g0257 a0004c0004t0004g0253 a0004c0004t0004g0259 a0007c0009t0004g0231 a0007c0039t0001g0246 a0007c0040t0004g0236 a0009c0010t0001g0235 a0025c0028t0002g0078 a0026c0037t0004g0244	18	376	0.0479	23	c.39 others(34): Show c.3984_*3985insGCAAGGGCAGGAGCTGTGGCTGG	OVCH2	ENSG00000183378.13	transcript	ENST00000533663.6	protein_coding		3787		chr11	TogoVar
OXGR1_chr13_96980713_96999476	96990946	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0056 a0001c0002t0014g0056	1	151	0.0066	23	c.-12 others(42): Show c.-126-1138_-126-1137insTTTTTTTTTTTTTTTTTTTTTTT	OXGR1	ENSG00000165621.9	transcript	ENST00000541038.2	protein_coding	2/3			chr13	TogoVar
OXR1_chr8_106265190_106757694	106671044	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	81	0.0123	23	c.221 others(40): Show c.221-8147_221-8146insAAAAAAAAAAAAAAAAAAAAAAA	OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
OXTR_chr3_8745381_8774613	8773178	A A	ATATATAT others(16): Show ATATATATATAATCTATATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0164 a0001c0001t0010g0164	1	468	0.0021	23	c.-42 others(34): Show c.-4209_-4187dupGATATATATAGATTATATATATA	OXTR	ENSG00000180914.11	transcript	ENST00000316793.8	protein_coding		3566		chr3	TogoVar
P2RX2_chr12_132613776_132627388	132618232	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00733.hp2 others(12): Show HG00099.hp1 HG00099.hp2 HG00733.hp2 HG01099.hp2 HG02109.hp1 HG02132.hp1 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02647.hp2 HG02895.hp1 HG03834.hp2 HG03927.hp1 HG04204.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0015 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0008t0001g0013	15	184	0.0815	23	c.-58 others(32): Show c.-585_-584insAAGAAAGAAAGAAAGAAAGAAAG	P2RX2	ENSG00000187848.15	transcript	ENST00000643471.2	protein_coding		543		chr12	TogoVar
P2RX4_chr12_121205129_121239106	121212824	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0240 a0001c0004t0001g0240	1	47	0.0213	23	c.134 others(40): Show c.134+2527_134+2528insATATATATATATATATTTTTTTT	P2RX4	ENSG00000135124.16	transcript	ENST00000337233.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX4_chr12_121205129_121239106	121212824	A A	ATATATTT others(16): Show ATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0292 a0001c0003t0001g0292	1	47	0.0213	23	c.134 others(40): Show c.134+2527_134+2528insATATTTTTTTTTTTTTTTTTTTT	P2RX4	ENSG00000135124.16	transcript	ENST00000337233.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX4_chr12_121205129_121239106	121212824	A A	ATATTTTT others(16): Show ATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0046 a0001c0003t0001g0046	1	47	0.0213	23	c.134 others(40): Show c.134+2527_134+2528insATTTTTTTTTTTTTTTTTTTTTT	P2RX4	ENSG00000135124.16	transcript	ENST00000337233.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136019	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0012 a0004c0003t0012	a0004c0003t0012g0205 a0004c0003t0012g0205	1	358	0.0028	23	c.125 others(40): Show c.125+2924_125+2925insTATATATATATATATATATATAT	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12			chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18964.hp2 NA18946.hp2 NA18964.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0007 a0002c0002 a0008c0007	a0002c0002t0001 a0008c0007t0002 a0002c0002t0001 a0008c0007t0002	a0002c0002t0001g0025 a0008c0007t0002g0024 a0002c0002t0001g0025 a0008c0007t0002g0024	2	42	0.0476	23	c.125 others(40): Show c.125+2929_125+2930insAAAAAAAAAAAAAAATATATATA	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(16): Show AAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG04184.hp2 HG02895.hp2 HG04184.hp2	a0001 a0018 a0001 a0018	a0001c0001 a0018c0023 a0001c0001 a0018c0023	a0001c0001t0001 a0018c0023t0037 a0001c0001t0001 a0018c0023t0037	a0001c0001t0001g0034 a0018c0023t0037g0035 a0001c0001t0001g0034 a0018c0023t0037g0035	2	42	0.0476	23	c.125 others(40): Show c.125+2929_125+2930insAAAAAAAAAAAAATATATATATA	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(16): Show AAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02300.hp2 HG03017.hp2 others(4): Show HG01167.hp1 HG02300.hp2 HG03017.hp2 HG04199.hp2 NA18974.hp2 NA19003.hp1 NA19004.hp1	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0013	a0001c0001 a0006c0005 a0007c0015 others(1): Show a0001c0001 a0006c0005 a0007c0015 a0013c0014	a0001c0001t0001 a0006c0005t0002 a0006c0005t0023 others(2): Show a0001c0001t0001 a0006c0005t0002 a0006c0005t0023 a0007c0015t0001 a0013c0014t0001	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(4): Show a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0006c0005t0002g0070 a0006c0005t0023g0071 a0007c0015t0001g0073 a0013c0014t0001g0072	7	47	0.1489	23	c.125 others(40): Show c.125+2929_125+2930insAAAAAAAAAAATATATATATATA	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(16): Show AAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0002 a0006c0005t0002	a0006c0005t0002g0153 a0006c0005t0002g0153	1	41	0.0244	23	c.125 others(40): Show c.125+2929_125+2930insAAAAAAAAATATATATATATATA	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(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0012 a0004c0003t0012	a0004c0003t0012g0199 a0004c0003t0012g0199	1	41	0.0244	23	c.125 others(40): Show c.125+2928_125+2929insTATATATATATATATATATATAT	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12			chr12	TogoVar
P3H2_chr3_189951728_190125897	189970191	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18993.hp2 NA18991.hp2 NA18993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0056 a0001c0002t0002g0069 a0001c0002t0002g0056 a0001c0002t0002g0069	2	42	0.0476	23	c.189 others(40): Show c.1893+624_1893+625insATATATATATATATATATATATA	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	13/14			chr3	TogoVar
PABPC1L_chr20_44905060_44944316	44931041	C C	CTCCCTTC others(16): Show CTCCCTTCCCTCCCTTCCCTCCCT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	351	0.0028	23	c.123 others(40): Show c.1239+325_1239+326insCCCTTCCCTCCCTTCCCTTCCCT	PABPC1L	ENSG00000101104.13	transcript	ENST00000217073.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
PABPC1L_chr20_44905060_44944316	44931061	T T	TCCCTCCC others(16): Show TCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	119	0.0084	23	c.123 others(40): Show c.1239+335_1239+336insCCCTCCCTCCCTCCCTCCCTCCC	PABPC1L	ENSG00000101104.13	transcript	ENST00000217073.7	protein_coding	8/14			chr20	TogoVar
PABPC1_chr8_100697916_100727088	100700663	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 NA18977.hp1 HG01952.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0140 a0001c0001t0001g0001 a0001c0001t0001g0140	2	326	0.0061	23	c.26 others(34): Show c.2697_*2698insGTTTTTTTTTTTTTTTTTTTTTT	PABPC1	ENSG00000070756.17	transcript	ENST00000318607.10	protein_coding		2252		chr8	TogoVar
PABPC4_chr1_39555816_39581790	39558101	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	13	0.0769	23	c.30 others(34): Show c.3034_*3035insAAAAAAAAAAAAAAAAAAAAAAA	PABPC4	ENSG00000090621.15	transcript	ENST00000372858.8	protein_coding		2714		chr1	TogoVar
PACRG_chr6_162722974_163320500	163129761	T T	TCCTAACT others(16): Show TCCTAACTCACACTCAGTTTCCTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03209.hp1 HG02257.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0009 a0001c0001t0001 a0001c0003t0009	a0001c0001t0001g0117 a0001c0003t0009g0081 a0001c0001t0001g0117 a0001c0003t0009g0081	2	130	0.0154	23	c.613 others(42): Show c.613+40357_613+40358insACTCACACTCAGTTTCCTCCCTA	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(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	8	0.1250	23	c.614 others(42): Show c.614-90455_614-90433dupAAAAAAAAAAAAAAAAAAAAAAA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACS1_chr11_66065272_66249744	66136354	C C	CACACACA others(16): Show CACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0205 a0001c0001t0005g0205	1	319	0.0031	23	c.357 others(42): Show c.357-57132_357-57131insACACACACACACACACACACACA	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	1/23			chr11	TogoVar
PACS1_chr11_66065272_66249744	66202742	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0080 a0001c0003t0001g0080	1	198	0.0051	23	c.445 others(40): Show c.445-7619_445-7618insAAAAAAAAAAAAAAATATATATA	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PACS1_chr11_66065272_66249744	66202742	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	198	0.0051	23	c.445 others(40): Show c.445-7619_445-7618insATATATATATATATATATATATA	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PACS2_chr14_105309748_105403147	105364319	G G	GCGGTGGG others(16): Show GCGGTGGGTGGTGTCCCGGGTGCA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02572.hp2 others(10): Show HG01167.hp1 HG01169.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03453.hp1 HG06807.hp1 HG06807.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0003 a0002c0002t0019 a0002c0002t0026 others(3): Show a0002c0002t0003 a0002c0002t0019 a0002c0002t0026 a0002c0002t0027 a0002c0002t0047 a0002c0008t0016	a0002c0002t0003g0002 a0002c0002t0003g0062 a0002c0002t0003g0063 others(10): Show a0002c0002t0003g0002 a0002c0002t0003g0062 a0002c0002t0003g0063 a0002c0002t0003g0064 a0002c0002t0003g0096 a0002c0002t0003g0181 a0002c0002t0003g0182 a0002c0002t0019g0002 a0002c0002t0026g0188 a0002c0002t0027g0113 a0002c0002t0047g0180 a0002c0008t0016g0183 a0002c0008t0016g0184	13	208	0.0625	23	c.424 others(40): Show c.424-2887_424-2886insTGGTGTCCCGGGTGCACGGTGGG	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	4/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PACS2_chr14_105309748_105403147	105364419	T T	TGTCCCGG others(16): Show TGTCCCGGGTGCGCGGTGGGCGGC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	164	0.0061	23	c.424 others(40): Show c.424-2751_424-2729dupCGGCGTCCCGGGTGCGCGGTGGG	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	4/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PACS2_chr14_105309748_105403147	105364511	T T	TGGCCCGG others(16): Show TGGCCCGGGTGCGCGGTGGGCGGC	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19030.hp2 HG02976.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0027 a0002c0002t0026 a0002c0002t0027	a0002c0002t0026g0188 a0002c0002t0027g0113 a0002c0002t0026g0188 a0002c0002t0027g0113	2	207	0.0097	23	c.424 others(40): Show c.424-2698_424-2697insCGGGTGCGCGGTGGGCGGCGGCC	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	4/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PACSIN1_chr6_34461076_34540223	34486716	G G	GGGCCCTC others(16): Show GGGCCCTCTCTTTCCTCCTGCCTT	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0271 a0001c0001t0003g0271	1	308	0.0032	23	c.-64 others(42): Show c.-64+20451_-64+20452insTCTCTTTCCTCCTGCCTTGGCCC	PACSIN1	ENSG00000124507.11	transcript	ENST00000244458.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACSIN2_chr22_42864773_43020149	43010398	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01167.hp1 HG01952.hp2 HG01071.hp2 HG01167.hp1 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0034 a0001c0002t0003g0275 a0001c0002t0003g0276 a0001c0002t0003g0034 a0001c0002t0003g0275 a0001c0002t0003g0276	3	88	0.0341	23	c.-78 others(40): Show c.-78+4622_-78+4623insAAAAATATATATATATATATATA	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	43010398	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG06807.hp1 HG03831.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0013 a0001c0002t0003g0268 a0001c0002t0003g0013 a0001c0002t0003g0268	2	87	0.0230	23	c.-78 others(40): Show c.-78+4622_-78+4623insAAAAAAATATATATATATATATA	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	43010398	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0082 a0001c0003t0009g0082	1	86	0.0116	23	c.-78 others(40): Show c.-78+4622_-78+4623insAAAAAAAAATATATATATATATA	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PADI1_chr1_17200128_17251007	17248636	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	231	0.0043	23	c.43 others(34): Show c.4393_*4394insAAAAAAAAAAAAAAAAAAAAAAA	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding		2630		chr1	TogoVar
PADI3_chr1_17244098_17289233	17248636	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0004 a0007c0012t0004	a0007c0012t0004g0084 a0007c0012t0004g0084	1	196	0.0051	23	c.-50 others(32): Show c.-502_-501insAAAAAAAAAAAAAAAAAAAAAAA	PADI3	ENSG00000142619.4	transcript	ENST00000375460.3	protein_coding		461		chr1	TogoVar
PADI6_chr1_17367196_17406699	17379111	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19043.hp1 NA21309.hp1 HG02723.hp2 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0001t0006 a0001c0003t0003 a0001c0001t0005 a0001c0001t0006 a0001c0003t0003	a0001c0001t0005g0323 a0001c0001t0006g0273 a0001c0003t0003g0054 a0001c0001t0005g0323 a0001c0001t0006g0273 a0001c0003t0003g0054	3	179	0.0168	23	c.368 others(38): Show c.368-788_368-787insTTTTTTTTTTTTTTTTTTTTTTT	PADI6	ENSG00000276747.1	transcript	ENST00000619609.1	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAEP_chr9_135556756_135571955	135568464	T T	TGAGACAA others(16): Show TGAGACAAATGAGGCAAAGAGGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0014 a0001c0001t0006g0014	1	462	0.0022	23	c.19 others(34): Show c.1912_*1913insGAGACAAATGAGGCAAAGAGGCA	PAEP	ENSG00000122133.17	transcript	ENST00000479141.6	protein_coding		1510		chr9	TogoVar
PAFAH1B2_chr11_117139287_117176045	117168446	G G	GTTTGTTT others(16): Show GTTTGTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01074.hp2 HG01243.hp2 HG01074.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0092 a0001c0001t0034g0094 a0001c0001t0034g0092 a0001c0001t0034g0094	2	131	0.0153	23	c.75 others(32): Show c.750_*751insGTTTTTTTTTTTTTTTTTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding	6/6	751	INFO_REALIGN_3_PRIME	chr11	TogoVar
PAH_chr12_102831889_102922244	102899858	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	42	0.0238	23	c.169 others(40): Show c.169-4963_169-4941dupTTTTTTTTTTTTTTTTTTTTTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	2/12			chr12	TogoVar
PAIP1_chr5_43521267_43562077	43531656	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01978.hp1 HG02074.hp1 others(7): Show HG00735.hp1 HG01978.hp1 HG02074.hp1 HG02129.hp1 HG03491.hp1 HG04199.hp2 NA18968.hp1 NA19000.hp1 NA19058.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0230 others(7): Show a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0264 a0001c0001t0011g0234	10	26	0.3846	23	c.125 others(42): Show c.1253-1778_1253-1777insTTTTTTTTTTTTTTTTTTTTTTT	PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding	9/10			chr5	TogoVar
PAK1_chr11_77317017_77479094	77429056	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	116	0.0086	23	c.-21 others(42): Show c.-21-36538_-21-36516dupTTTTTTTTTTTTTTTTTTTTTTT	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14			chr11	TogoVar
PAK2_chr3_196734857_196837647	196751695	A A	ATATATAT others(16): Show ATATATATATATATATATAATTAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA18906.hp2 HG01255.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0004t0019 a0001c0001t0005 a0001c0004t0019	a0001c0001t0005g0059 a0001c0004t0019g0061 a0001c0001t0005g0059 a0001c0004t0019g0061	2	101	0.0198	23	c.-22 others(42): Show c.-22+11538_-22+11539insTATATATATATATATATAATTAC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14			chr3	TogoVar
PAK2_chr3_196734857_196837647	196808557	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0134 a0001c0001t0020g0134	1	71	0.0141	23	c.709 others(38): Show c.709+661_709+662insAAAAAAAAAAAAAAAAAAAAAAA	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr3	TogoVar

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