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
OXSR1_chr3_38160537_38260484	38162028	T T	TATTTCAT others(23): Show TATTTCATATACATATTTCATATATTATGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	246	0.0041	30	c.-38 others(41): Show c.-3849_-3848insATTTCATATACATATTTCATATATTATGTA	OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding		3508		chr3	TogoVar
OXTR_chr3_8745381_8774613	8746799	T T	TCACACAC others(23): Show TCACACACACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0170 a0001c0002t0043g0170	1	58	0.0172	30	c.61 others(41): Show c.6177_*6178insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	OXTR	ENSG00000180914.11	transcript	ENST00000316793.8	protein_coding		3581		chr3	TogoVar
P2RX2_chr12_132613776_132627388	132618232	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	170	0.0059	30	c.-58 others(39): Show c.-585_-584insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	P2RX2	ENSG00000187848.15	transcript	ENST00000643471.2	protein_coding		543		chr12	TogoVar
P2RX4_chr12_121205129_121239106	121212824	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0214 a0001c0004t0001g0214	1	47	0.0213	30	c.134 others(47): Show c.134+2527_134+2528insATATATATATATATATATATATATTTTT TT	P2RX4	ENSG00000135124.16	transcript	ENST00000337233.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0005 a0005c0017t0005	a0005c0017t0005g0290 a0005c0017t0005g0290	1	41	0.0244	30	c.125 others(47): Show c.125+2929_125+2930insAAAAAAAAAAAAAATATATATATATATA TA	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(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0027 a0004c0003t0027	a0004c0003t0027g0309 a0004c0003t0027g0309	1	41	0.0244	30	c.125 others(47): Show c.125+2929_125+2930insAAAAAAAAAAAATATATATATATATATA TA	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RY8_chrX_1457581_1542185	1514437	C C	CTTTCCTC others(23): Show CTTTCCTCCCCTCCCTTCCCTTTCTTTTCCT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0099 a0004c0006t0001g0099	1	113	0.0088	30	c.-25 others(49): Show c.-25+22483_-25+22484insAGGAAAAGAAAGGGAAGGGAGGGGAG GAAA	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P3H2_chr3_189951728_190125897	189970191	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG04184.hp2 NA18946.hp2 others(2): Show HG01175.hp2 HG04184.hp2 NA18946.hp2 NA18964.hp2 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 a0001c0003t0003	a0001c0001t0001g0125 a0001c0001t0001g0278 a0001c0002t0002g0041 others(2): Show a0001c0001t0001g0125 a0001c0001t0001g0278 a0001c0002t0002g0041 a0001c0002t0008g0135 a0001c0003t0003g0198	5	45	0.1111	30	c.189 others(47): Show c.1893+595_1893+624dupATATATATATATATATATATATATATAT AT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	13/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(23): Show CACACACACACACACACACATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02027.hp1 HG02132.hp2 others(1): Show HG00673.hp2 HG02027.hp1 HG02132.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0065 a0001c0002t0002g0132 a0001c0002t0002g0169 others(1): Show a0001c0002t0001g0065 a0001c0002t0002g0132 a0001c0002t0002g0169 a0001c0002t0002g0242	4	26	0.1538	30	c.481 others(49): Show c.481-12524_481-12523insATATATATATATGTGTGTGTGTGTGT GTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(23): Show CACACACACACACACACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00733.hp1 others(13): Show HG00423.hp1 HG00438.hp1 HG00733.hp1 HG01168.hp2 HG02055.hp2 HG02109.hp1 HG02647.hp1 HG03471.hp1 HG03669.hp2 HG03710.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0002t0001g0068 a0001c0002t0001g0124 a0001c0002t0001g0144 others(13): Show a0001c0002t0001g0068 a0001c0002t0001g0124 a0001c0002t0001g0144 a0001c0002t0002g0010 a0001c0002t0002g0056 a0001c0002t0002g0092 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0165 a0001c0002t0002g0205 a0001c0002t0002g0245 a0001c0002t0002g0250 a0001c0002t0002g0268 a0001c0002t0003g0114 a0001c0002t0003g0122 a0001c0002t0003g0192	16	38	0.4211	30	c.481 others(49): Show c.481-12524_481-12523insATATATATATATATGTGTGTGTGTGT GTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(23): Show CACACACACACACACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0101 a0001c0002t0002g0101	1	23	0.0435	30	c.481 others(49): Show c.481-12524_481-12523insATATATATATATATATGTGTGTGTGT GTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(23): Show CACACACACACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	23	0.0435	30	c.481 others(49): Show c.481-12524_481-12523insATATATATATATATATATATGTGTGT GTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(23): Show CACACACACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01346.hp1 NA20752.hp1 HG01070.hp2 HG01346.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0244 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0244	3	25	0.1200	30	c.481 others(49): Show c.481-12524_481-12523insATATATATATATATATATATATGTGT GTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(23): Show CACACACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG04204.hp2 NA18963.hp2 HG02735.hp2 HG04204.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0178 a0001c0001t0001g0285 a0001c0001t0001g0080 a0001c0001t0001g0178 a0001c0001t0001g0285	3	25	0.1200	30	c.481 others(49): Show c.481-12524_481-12523insATATATATATATATATATATATATGT GTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190041020	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01257.hp2 HG01433.hp2 others(5): Show HG00558.hp2 HG01257.hp2 HG01433.hp2 HG03492.hp2 HG04228.hp1 NA19003.hp2 NA19005.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0071 a0001c0001t0001g0139 a0001c0001t0001g0156 others(5): Show a0001c0001t0001g0071 a0001c0001t0001g0139 a0001c0001t0001g0156 a0001c0001t0001g0193 a0001c0001t0001g0228 a0001c0002t0001g0131 a0001c0002t0002g0210 a0001c0002t0002g0295	8	165	0.0485	30	c.481 others(49): Show c.481-45579_481-45578insTATATATATATATATATATATATATA TATA	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190066158	T T	TATATATA others(23): Show TATATATATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02572.hp1 NA18906.hp1 others(1): Show HG01081.hp1 HG02572.hp1 NA18906.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 others(1): Show a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0272	4	256	0.0156	30	c.480 others(49): Show c.480+54093_480+54094insGTGTGTGTGTGTGTATATATATATAT ATAT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190066158	T T	TATATATA others(23): Show TATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02896.hp2 HG00738.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0181 a0001c0001t0002g0218 a0001c0001t0001g0181 a0001c0001t0002g0218	2	254	0.0079	30	c.480 others(49): Show c.480+54093_480+54094insGTGTGTGTGTGTATATATATATATAT ATAT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
PABIR1_chr9_68775065_68790566	68788474	T T	TTTTTGTT others(23): Show TTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02895.hp1 HG02897.hp2 others(1): Show HG01891.hp2 HG02895.hp1 HG02897.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0000 a0001c0001t0011g0000	4	32	0.1250	30	c.74 others(41): Show c.7446_*7447insTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG	PABIR1	ENSG00000187866.10	transcript	ENST00000394264.7	protein_coding		2909		chr9	TogoVar
PABPC1L2A_chrX_73072276_73084512	73080740	G G	GTAAAGCT others(23): Show GTAAAGCTGGACCAACCAGGACCAAAAGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	272	0.0037	30	c.-13 others(41): Show c.-1355_-1354insGTACTTTTGGTCCTGGTTGGTCCAGCTTTA	PABPC1L2A	ENSG00000186288.5	transcript	ENST00000373519.1	protein_coding		1229		chrX	TogoVar
PABPC1_chr8_100697916_100727088	100700663	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	325	0.0031	30	c.26 others(41): Show c.2697_*2698insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PABPC1	ENSG00000070756.17	transcript	ENST00000318607.10	protein_coding		2252		chr8	TogoVar
PABPN1L_chr16_88858333_88871660	88864547	C C	CGTCACGG others(23): Show CGTCACGGCCAGCACCCCTGCAGAGGGGGGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01123.hp1 others(12): Show HG00741.hp1 HG00741.hp2 HG01123.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02683.hp2 HG02735.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG03139.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0001 a0001c0001t0002 a0001c0017t0002 a0001c0001t0001 a0001c0001t0002 a0001c0017t0002	a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0051 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0051 a0001c0001t0002g0037 a0001c0017t0002g0068	15	380	0.0395	30	c.655 others(45): Show c.655-198_655-169dupCCCCCCCTCTGCAGGGGTGCTGGCCGTGAC	PABPN1L	ENSG00000205022.9	transcript	ENST00000419291.7	protein_coding	5/6			chr16	TogoVar
PACRG_chr6_162722974_163320500	162747474	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01109.hp1 HG02257.hp2 others(2): Show HG00140.hp1 HG01109.hp1 HG02257.hp2 NA18945.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0003t0009	a0001c0001t0002g0037 a0001c0001t0004g0075 a0001c0001t0004g0080 others(2): Show a0001c0001t0002g0037 a0001c0001t0004g0075 a0001c0001t0004g0080 a0001c0001t0005g0072 a0001c0003t0009g0081	5	75	0.0667	30	c.156 others(49): Show c.156+19102_156+19103insATATATATATATATATATATATATAT ATAT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163269867	G G	GAGAAAGA others(23): Show GAGAAAGAAAGAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG04184.hp2 HG02148.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0070 a0001c0001t0006g0011 a0001c0001t0004g0070 a0001c0001t0006g0011	2	114	0.0175	30	c.614 others(49): Show c.614-44949_614-44948insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACS2_chr14_105309748_105403147	105335320	G G	GTGGCTCT others(23): Show GTGGCTCTGACGCTGTGGCCGGCGCCTGGCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03579.hp1 HG02258.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0025 a0001c0001t0001 a0002c0002t0025	a0001c0001t0001g0016 a0002c0002t0025g0178 a0001c0001t0001g0016 a0002c0002t0025g0178	2	208	0.0096	30	c.120 others(49): Show c.120-13168_120-13167insCTGACGCTGTGGCCGGCGCCTGGCAT GGCT	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PACS2_chr14_105309748_105403147	105335356	G G	GTGACGCT others(23): Show GTGACGCTGTGGCCGGCGCCTGGCGTGGCTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02293.hp1 HG03579.hp1 HG00639.hp2 HG02293.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0006t0015 a0002c0002t0025 a0001c0001t0001 a0001c0006t0015 a0002c0002t0025	a0001c0001t0001g0158 a0001c0006t0015g0187 a0002c0002t0025g0178 a0001c0001t0001g0158 a0001c0006t0015g0187 a0002c0002t0025g0178	3	185	0.0162	30	c.120 others(49): Show c.120-13053_120-13024dupGTGGCTCTGACGCTGTGGCCGGCGCC TGGC	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PACSIN2_chr22_42864773_43020149	42865810	T T	TACCCTAA others(23): Show TACCCTAACCCTAACCCTAACCCTAACCCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0042 a0001c0002t0003g0042	1	207	0.0048	30	c.55 others(41): Show c.5517_*5546dupTAGGGTTAGGGTTAGGGTTAGGGTTAGGGT	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding		3962		chr22	TogoVar
PACSIN2_chr22_42864773_43020149	42982869	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	145	0.0069	30	c.-78 others(49): Show c.-78+32151_-78+32152insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	43010398	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0277 a0001c0002t0003g0277	1	86	0.0116	30	c.-78 others(47): Show c.-78+4622_-78+4623insAAAAAATATATATATATATATATATATA TA	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PAGE1_chrX_49682447_49700984	49689977	G G	GTGTATAT others(23): Show GTGTATATATATGTGTATATACACACATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03486.hp2 HG02622.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0054 a0001c0001t0001g0055	2	312	0.0064	30	c.293 others(45): Show c.293-435_293-434insTATATGTGTGTATATACACATATATATACA	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAGE1_chrX_49682447_49700984	49690049	G G	GTGTGTAT others(23): Show GTGTGTATATACACACATATATATGTGTATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	320	0.0031	30	c.293 others(45): Show c.293-507_293-506insTATACACATATATATGTGTGTATATACACA	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAH_chr12_102831889_102922244	102835581	A A	ATACATAT others(23): Show ATACATATGCACATACATATATGTGCCTACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	221	0.0045	30	c.35 others(41): Show c.3593_*3594insCGTAGGCACATATATGTATGTGCATATGTA	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding		1307		chr12	TogoVar
PAH_chr12_102831889_102922244	102835581	A A	ATACATAT others(23): Show ATACATATGCATATACATATATGTGCCTACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG02109.hp1 HG01496.hp1 HG02109.hp1	a0001 a0001	a0001c0008 a0001c0009 a0001c0008 a0001c0009	a0001c0008t0018 a0001c0009t0013 a0001c0008t0018 a0001c0009t0013	a0001c0008t0018g0210 a0001c0009t0013g0235 a0001c0008t0018g0210 a0001c0009t0013g0235	2	222	0.0090	30	c.35 others(41): Show c.3593_*3594insCGTAGGCACATATATGTATATGCATATGTA	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding		1307		chr12	TogoVar
PAH_chr12_102831889_102922244	102835581	A A	ATACATAT others(23): Show ATACATATGCATATACATATATGTGCCTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01069.hp2 HG01099.hp1 others(48): Show HG00639.hp2 HG01069.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp2 HG02257.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03710.hp1 HG03834.hp1 HG06807.hp2 NA18522.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0007t0002	a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 others(47): Show a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0127 a0001c0001t0002g0150 a0001c0001t0002g0156 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0002g0207 a0001c0001t0002g0212 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0004g0291 a0001c0001t0006g0221 a0001c0001t0006g0222 a0001c0001t0006g0224 a0001c0001t0006g0225 a0001c0001t0009g0293 a0001c0001t0009g0294 a0001c0001t0012g0141 a0001c0001t0012g0185 a0001c0007t0002g0173	51	271	0.1882	30	c.35 others(41): Show c.3593_*3594insCATAGGCACATATATGTATATGCATATGTA	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding		1307		chr12	TogoVar
PAH_chr12_102831889_102922244	102835586	T T	TATGCACA others(23): Show TATGCACATACATATATGTGCATACGTACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02895.hp2 HG03540.hp2 HG02280.hp2 HG02895.hp2 HG03540.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0010 a0001c0007t0010	a0001c0007t0010g0035 a0001c0007t0010g0036 a0001c0007t0010g0037 a0001c0007t0010g0035 a0001c0007t0010g0036 a0001c0007t0010g0037	3	312	0.0096	30	c.35 others(41): Show c.3588_*3589insGTGTACGTATGCACATATATGTATGTGCAT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding		1302		chr12	TogoVar
PAH_chr12_102831889_102922244	102835610	T T	TGTACATA others(23): Show TGTACATATGCACATACATATATGTGCATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0240 a0001c0003t0003g0240	1	266	0.0038	30	c.35 others(41): Show c.3564_*3565insGTATGCACATATATGTATGTGCATATGTAC	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding		1278		chr12	TogoVar
PAH_chr12_102831889_102922244	102835610	T T	TGTACATA others(23): Show TGTACATATGCATATACATATATGTGCATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0290 a0001c0001t0004g0290	1	266	0.0038	30	c.35 others(41): Show c.3564_*3565insGTATGCACATATATGTATATGCATATGTAC	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding		1278		chr12	TogoVar
PAH_chr12_102831889_102922244	102835616	T T	TATGCACA others(23): Show TATGCACATACATATATGTGCATACGTACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0026 a0001c0004t0026	a0001c0004t0026g0299 a0001c0004t0026g0299	1	309	0.0032	30	c.35 others(41): Show c.3558_*3559insGTGTACGTATGCACATATATGTATGTGCAT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding		1272		chr12	TogoVar
PAH_chr12_102831889_102922244	102835622	C C	CATACATA others(23): Show CATACATATATGTGCATACGTACATATGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0230 a0001c0009t0005g0230	1	160	0.0063	30	c.35 others(41): Show c.3552_*3553insATGCATATGTACGTATGCACATATATGTAT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding		1266		chr12	TogoVar
PAH_chr12_102831889_102922244	102835652	C C	CATACATA others(23): Show CATACATATATGTGCATACGTACATATGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG02257.hp1 others(10): Show HG01256.hp2 HG01258.hp1 HG02257.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 NA19054.hp2 NA20129.hp1 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0004c0013	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0003t0014 a0001c0004t0007 a0001c0009t0005 a0004c0013t0005	a0001c0001t0002g0008 a0001c0001t0002g0101 a0001c0001t0002g0103 others(9): Show a0001c0001t0002g0008 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0152 a0001c0001t0002g0205 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0007g0019 a0001c0003t0014g0272 a0001c0004t0007g0140 a0001c0009t0005g0231 a0004c0013t0005g0232	13	232	0.0560	30	c.35 others(41): Show c.3522_*3523insATGCATATGTACGTATGCACATATATGTAT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding		1236		chr12	TogoVar
PAH_chr12_102831889_102922244	102867850	T T	TATGTATA others(23): Show TATGTATATACATATATAGATGTATATATAC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02559.hp2 HG04204.hp2 others(4): Show HG02523.hp2 HG02559.hp2 HG04204.hp2 NA18942.hp2 NA19067.hp1 NA19070.hp1 NA19089.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 others(1): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0002c0005t0003	a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0054 others(4): Show a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0112 a0001c0003t0003g0270 a0001c0003t0005g0255 a0002c0005t0003g0249	7	206	0.0340	30	c.442 others(47): Show c.442-1217_442-1188dupGTATATATACATCTATATATGTATATAC AT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102867898	G G	GATGTATA others(23): Show GATGTATATATACATGTATATACATATATAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01081.hp1 HG01256.hp2 others(9): Show HG00741.hp1 HG01081.hp1 HG01256.hp2 HG01258.hp1 HG01515.hp1 HG02258.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03225.hp1 NA20129.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0011t0002	a0001c0001t0001g0022 a0001c0001t0002g0008 a0001c0001t0002g0017 others(8): Show a0001c0001t0001g0022 a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0152 a0001c0001t0007g0019 a0001c0001t0007g0020 a0001c0001t0007g0021 a0001c0011t0002g0082	12	312	0.0385	30	c.442 others(47): Show c.442-1236_442-1235insGTATATATGTATATACATGTATATATAC AT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102867924	T T	TATAGATG others(23): Show TATAGATGTATATATACATGTATATACATAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02970.hp1 HG01167.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0013 a0001c0001t0002g0014	2	312	0.0064	30	c.442 others(47): Show c.442-1262_442-1261insTTATGTATATACATGTATATATACATCT AT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102867971	A A	ATGTATAT others(23): Show ATGTATATACATATATAGATGTATATATACG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00639.hp2 others(74): Show HG00140.hp2 HG00323.hp1 HG00639.hp2 HG00642.hp2 HG01069.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02109.hp2 HG02148.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18942.hp1 NA18992.hp1 NA19004.hp2 NA19007.hp2 NA19012.hp1 NA19240.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0007t0002 a0001c0007t0010 a0001c0007t0017	a0001c0001t0001g0007 a0001c0001t0001g0030 a0001c0001t0001g0048 others(72): Show a0001c0001t0001g0007 a0001c0001t0001g0030 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0150 a0001c0001t0002g0156 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0002g0207 a0001c0001t0002g0212 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0003g0228 a0001c0001t0003g0250 a0001c0001t0004g0257 a0001c0001t0004g0289 a0001c0001t0006g0221 a0001c0001t0006g0222 a0001c0001t0006g0224 a0001c0001t0006g0225 a0001c0001t0009g0294 a0001c0001t0012g0141 a0001c0001t0012g0185 a0001c0007t0002g0044 a0001c0007t0002g0173 a0001c0007t0010g0035 a0001c0007t0010g0036 a0001c0007t0010g0037 a0001c0007t0017g0047	77	249	0.3092	30	c.442 others(47): Show c.442-1309_442-1308insCGTATATATACATCTATATATGTATATA CA	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102867971	A A	ATGTATAT others(23): Show ATGTATATACATATATAGATGTATATTTACG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01175.hp1 HG00738.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0011 a0001c0001t0001 a0001c0002t0011	a0001c0001t0001g0024 a0001c0002t0011g0034 a0001c0001t0001g0024 a0001c0002t0011g0034	2	174	0.0115	30	c.442 others(47): Show c.442-1309_442-1308insCGTAAATATACATCTATATATGTATATA CA	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102899858	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01978.hp2 HG01106.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0220 a0001c0001t0002g0200 a0001c0001t0002g0220	2	43	0.0465	30	c.169 others(47): Show c.169-4941_169-4940insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	2/12			chr12	TogoVar
PAIP1_chr5_43521267_43562077	43531656	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	17	0.0588	30	c.125 others(49): Show c.1253-1778_1253-1777insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding	9/10			chr5	TogoVar
PAIP2_chr5_139336854_139374717	139352488	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	323	0.0031	30	c.-27 others(49): Show c.-27+10518_-27+10519insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PAIP2	ENSG00000120727.13	transcript	ENST00000265192.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAK2_chr3_196734857_196837647	196751674	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02895.hp1 HG02897.hp1 others(1): Show HG02615.hp1 HG02895.hp1 HG02897.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0001t0055 a0001c0002t0005 others(1): Show a0001c0001t0011 a0001c0001t0055 a0001c0002t0005 a0001c0002t0013	a0001c0001t0011g0137 a0001c0001t0055g0146 a0001c0002t0005g0136 others(1): Show a0001c0001t0011g0137 a0001c0001t0055g0146 a0001c0002t0005g0136 a0001c0002t0013g0142	4	40	0.1000	30	c.-22 others(49): Show c.-22+11538_-22+11539insTATATATATATATATATATATATATA TATA	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196751695	A A	ATATATAT others(23): Show ATATATATATATATATATATATAAAAATTAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18945.hp1 NA19088.hp2 HG02135.hp1 NA18945.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0088 a0001c0001t0002g0106 a0001c0001t0002g0070 a0001c0001t0002g0088 a0001c0001t0002g0106	3	102	0.0294	30	c.-22 others(49): Show c.-22+11538_-22+11539insTATATATATATATATATATATAAAAA TTAC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14			chr3	TogoVar
PAK2_chr3_196734857_196837647	196751695	A A	ATATATAT others(23): Show ATATATATATATATATATATATATAAATTAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 NA18906.hp1 others(1): Show HG01070.hp1 HG01071.hp2 NA18906.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0017 a0001c0001t0002 a0001c0001t0016 a0001c0001t0017	a0001c0001t0002g0093 a0001c0001t0016g0076 a0001c0001t0016g0110 others(1): Show a0001c0001t0002g0093 a0001c0001t0016g0076 a0001c0001t0016g0110 a0001c0001t0017g0101	4	103	0.0388	30	c.-22 others(49): Show c.-22+11538_-22+11539insTATATATATATATATATATATATAAA TTAC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14			chr3	TogoVar

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