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
OR9Q1_chr11_58018881_58186616	58034767	C C	CTTCCTTC others(33): Show CTTCCTTCCTTCCTTCCTTCCTTCTTCCTTCCCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01943.hp2 HG02074.hp1 others(2): Show HG01496.hp1 HG01943.hp2 HG02074.hp1 NA18964.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0301 a0001c0001t0001g0314 a0001c0001t0001g0315 others(2): Show a0001c0001t0001g0301 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0002t0001g0300 a0001c0002t0001g0316	5	312	0.0160	40	c.-93 others(59): Show c.-93+10666_-93+10667insCTTCCTTCCTTCCTTCCTTCTTCCTT CCCTCCCTCCTTTC	OR9Q1	ENSG00000186509.4	transcript	ENST00000335397.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
OR9Q1_chr11_58018881_58186616	58034769	T T	TCCTTCCT others(33): Show TCCTTCCTTCCTTCCTTCTTCCTTCCCTCCCTCCTTTCTCC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG00673.hp1 others(5): Show HG00558.hp2 HG00639.hp1 HG00673.hp1 HG01257.hp2 HG01433.hp2 HG01496.hp2 NA18961.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0207 a0001c0001t0001g0305 a0001c0002t0001g0205 others(5): Show a0001c0001t0001g0207 a0001c0001t0001g0305 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0229 a0001c0002t0001g0231 a0001c0002t0001g0249 a0001c0002t0003g0230	8	245	0.0327	40	c.-93 others(59): Show c.-93+10666_-93+10667insCTTCCTTCCTTCCTTCTTCCTTCCCT CCCTCCTTTCTCCC	OR9Q1	ENSG00000186509.4	transcript	ENST00000335397.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
ORC3_chr6_87585135_87672451	87602954	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	261	0.0038	40	c.178 others(55): Show c.178-413_178-412insTATATATATATATATATATATATATATATA TATATATATA	ORC3	ENSG00000135336.16	transcript	ENST00000392844.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
OSBPL10_chr3_31655825_31986262	31740857	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03041.hp2 HG01175.hp1 HG03041.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0015 a0001c0001 a0003c0015	a0001c0001t0001 a0003c0015t0002 a0001c0001t0001 a0003c0015t0002	a0001c0001t0001g0029 a0003c0015t0002g0013 a0001c0001t0001g0029 a0003c0015t0002g0013	2	54	0.0370	40	c.940 others(57): Show c.940+7052_940+7053insTATATATATATATATATATATATATATA TATATATATATA	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	5/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31761813	T T	TAAAAAAA others(33): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02895.hp1 HG02055.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0157 a0001c0001t0002g0067 a0001c0001t0001g0157 a0001c0001t0002g0067	2	51	0.0392	40	c.730 others(59): Show c.730-13694_730-13693insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11			chr3	TogoVar
OSBPL1A_chr18_24157052_24402824	24287772	A A	AAACATAA others(33): Show AAACATAAAATAAATAAAATAAAATAAAATAAATAAAATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	86	0.0116	40	c.117 others(59): Show c.1175-6825_1175-6824insATATTTTATTTATTTTATTTTATTTT ATTTATTTTATGTT	OSBPL1A	ENSG00000141447.19	transcript	ENST00000319481.8	protein_coding	14/27			chr18	TogoVar
OSBPL5_chr11_3082107_3170310	3103815	C C	CCTGCGCA others(33): Show CCTGCGCAGCCCCCTTCCTGCCTCTGCAGCCCCTTTCCAGT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	299	0.0033	40	c.124 others(57): Show c.1244+377_1244+378insACTGGAAAGGGGCTGCAGAGGCAGGAAG GGGGCTGCGCAG	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	10/21			chr11	TogoVar
OSBPL5_chr11_3082107_3170310	3103879	T T	TGCCGCCC others(33): Show TGCCGCCCCCTTCCTGCCTCTGCAGCCCCTTTCCAGTCTGC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0297 a0002c0003t0001g0297	1	300	0.0033	40	c.124 others(57): Show c.1244+313_1244+314insGCAGACTGGAAAGGGGCTGCAGAGGCAG GAAGGGGGCGGC	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	10/21			chr11	TogoVar
OSCAR_chr19_54089668_54105803	54089940	G G	GTTTTTTT others(33): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG00733.hp2 HG00741.hp2 others(10): Show HG00673.hp2 HG00733.hp2 HG00741.hp2 HG01099.hp2 HG01255.hp1 HG01261.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG03704.hp1 HG03831.hp2 NA18971.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0018 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0060 a0001c0001t0001g0078 a0001c0001t0001g0128 a0001c0001t0001g0212 a0001c0001t0001g0252 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0003t0001g0307	13	24	0.5417	40	c.52 others(51): Show c.5280_*5281insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding		4727		chr19	TogoVar
OSCAR_chr19_54089668_54105803	54101538	T T	TCAGATAG others(33): Show TCAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG02074.hp1 NA18986.hp1 others(1): Show HG00621.hp1 HG02074.hp1 NA18986.hp1 NA18986.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0199 a0002c0002t0001g0032 a0001c0001t0001g0001 a0001c0001t0001g0199 a0002c0002t0001g0032	4	98	0.0408	40	c.-74 others(49): Show c.-747_-746insTCTATCTATCTATCTATCTATCTATCTATCTATCTA TCTG	OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding		736		chr19	TogoVar
OSCAR_chr19_54089668_54105803	54101538	T T	TTAGATAG others(33): Show TTAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 NA19083.hp1 HG02273.hp2 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0171 a0002c0002t0001g0007 a0001c0003t0001g0171 a0002c0002t0001g0007	2	96	0.0208	40	c.-74 others(49): Show c.-747_-746insTCTATCTATCTATCTATCTATCTATCTATCTATCTA TCTA	OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding		736		chr19	TogoVar
OSCP1_chr1_36412906_36455451	36427299	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0260 a0004c0004t0001g0260	1	117	0.0085	40	c.517 others(57): Show c.517-3834_517-3833insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	OSCP1	ENSG00000116885.18	transcript	ENST00000235532.9	protein_coding	4/9			chr1	TogoVar
OSGIN1_chr16_83948240_83971332	83951752	C C	CCCTGCCT others(33): Show CCCTGCCTTCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02056.hp1 HG02622.hp2 others(4): Show HG01243.hp2 HG02056.hp1 HG02622.hp2 HG03453.hp2 NA18955.hp2 NA18960.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0012 a0001c0001 a0001c0007 a0001c0012	a0001c0001t0002 a0001c0001t0003 a0001c0007t0003 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0007t0003 a0001c0012t0003	a0001c0001t0002g0012 a0001c0001t0002g0186 a0001c0001t0003g0182 others(2): Show a0001c0001t0002g0012 a0001c0001t0002g0186 a0001c0001t0003g0182 a0001c0007t0003g0175 a0001c0012t0003g0185	7	348	0.0201	40	c.-16 others(51): Show c.-1651_-1650insCCTGCCTTCCTCCCTCCTTCCCTCCCTCCCTCCT TCCCTT	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1487		chr16	TogoVar
OSTF1_chr9_75083514_75152265	75139027	C C	CTTCTTTC others(33): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02818.hp1 HG04228.hp2 others(1): Show HG01123.hp1 HG02818.hp1 HG04228.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0054 a0001c0001t0002g0087 a0001c0001t0002g0099 others(1): Show a0001c0001t0002g0054 a0001c0001t0002g0087 a0001c0001t0002g0099 a0001c0001t0007g0140	4	225	0.0178	40	c.487 others(57): Show c.487+1441_487+1442insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OTOGL_chr12_80094537_80385880	80135277	C C	CCCCTCCC others(33): Show CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCCTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0001 a0004c0016t0001	a0004c0016t0001g0019 a0004c0016t0001g0019	1	95	0.0105	40	c.-20 others(59): Show c.-20+35676_-20+35677insCCCCTCCCCTCCCCTCCCCTCCCCTT CCCTTCCCTTCCCT	OTOGL	ENSG00000165899.12	transcript	ENST00000547103.7	protein_coding	1/58		INFO_REALIGN_3_PRIME	chr12	TogoVar
OTOP1_chr4_4183726_4231929	4219837	A A	ATATATAT others(33): Show ATATATATACACATATACATGTATATATGTATACATATATG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0223 a0002c0003t0001g0223	1	426	0.0023	40	c.403 others(57): Show c.403+6585_403+6624dupCATATATGTATACATATATACATGTATA TGTGTATATATA	OTOP1	ENSG00000163982.6	transcript	ENST00000296358.5	protein_coding	1/5			chr4	TogoVar
OTUD7A_chr15_31470398_31875673	31860622	G G	GATAAATA others(33): Show GATAAATATACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02148.hp1 NA18612.hp1 NA18939.hp1 HG02148.hp1 NA18612.hp1 NA18939.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0008 a0001c0002t0001 a0002c0003t0008	a0001c0002t0001g0037 a0001c0002t0001g0038 a0002c0003t0008g0039 a0001c0002t0001g0037 a0001c0002t0001g0038 a0002c0003t0008g0039	3	27	0.1111	40	c.-10 others(59): Show c.-100+9884_-100+9885insATATATATATATATATATATATATAT ATATGTATATTTAT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OXCT1_chr5_41725065_41875425	41859891	T T	TATATATA others(33): Show TATATATATATATATGTAATATATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03927.hp1 HG04199.hp1 others(1): Show HG03490.hp2 HG03927.hp1 HG04199.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0139 others(1): Show a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0139 a0001c0001t0001g0144	4	175	0.0229	40	c.278 others(57): Show c.278+1422_278+1423insTACATATATATATATATATATATTACAT ATATATATATAT	OXCT1	ENSG00000083720.13	transcript	ENST00000196371.10	protein_coding	3/16			chr5	TogoVar
P2RX2_chr12_132613776_132627388	132618228	A A	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	373	0.0027	40	c.-58 others(49): Show c.-589_-588insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	P2RX2	ENSG00000187848.15	transcript	ENST00000643471.2	protein_coding		547		chr12	TogoVar
P2RX4_chr12_121205129_121239106	121212824	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19007.hp2 NA19003.hp1 NA19007.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0016 a0001c0004t0001g0223 a0001c0004t0001g0016 a0001c0004t0001g0223	2	48	0.0417	40	c.134 others(57): Show c.134+2527_134+2528insATATATATATATATATATATATATATAT ATATATTTTTTT	P2RX4	ENSG00000135124.16	transcript	ENST00000337233.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX4_chr12_121205129_121239106	121212824	A A	ATATATAT others(33): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0291 a0001c0003t0001g0291	1	47	0.0213	40	c.134 others(57): Show c.134+2527_134+2528insATATATATATATATATATATATTTTTTT TTTTTTTTTTTT	P2RX4	ENSG00000135124.16	transcript	ENST00000337233.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121130820	A A	AGAAAGAA others(33): Show AGAAAGAAAGAAAAGACAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02109.hp2 HG02451.hp2 others(7): Show HG02027.hp1 HG02109.hp2 HG02451.hp2 HG02723.hp1 HG02970.hp1 HG02970.hp2 HG03669.hp2 NA19043.hp2 NA19060.hp1 NA19085.hp2	a0002 a0004 a0005 others(5): Show a0002 a0004 a0005 a0007 a0008 a0016 a0020 a0028	a0002c0033 a0004c0003 a0005c0006 others(5): Show a0002c0033 a0004c0003 a0005c0006 a0007c0008 a0008c0007 a0016c0016 a0020c0022 a0028c0035	a0002c0033t0001 a0004c0003t0007 a0005c0006t0003 others(5): Show a0002c0033t0001 a0004c0003t0007 a0005c0006t0003 a0007c0008t0001 a0008c0007t0002 a0016c0016t0002 a0020c0022t0005 a0028c0035t0002	a0002c0033t0001g0342 a0004c0003t0007g0354 a0005c0006t0003g0358 others(7): Show a0002c0033t0001g0342 a0004c0003t0007g0354 a0005c0006t0003g0358 a0007c0008t0001g0307 a0008c0007t0002g0318 a0008c0007t0002g0319 a0008c0007t0002g0334 a0016c0016t0002g0075 a0020c0022t0005g0308 a0028c0035t0002g0254	10	230	0.0435	40	c.-21 others(51): Show c.-2151_-2150insGAAAGAAAGAAAAGACAAAGAAAGAAAGAAAGAA AGAAAG	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding		2055		chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(33): Show AAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0336 a0002c0002t0003g0336	1	41	0.0244	40	c.125 others(57): Show c.125+2929_125+2930insAAAAAAAAAATATATATATATATATATA TATATATATATA	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RY8_chrX_1457581_1542185	1468722	C C	CCTCCTCC others(33): Show CCTCCTCCTCTCTCCTCTCTCCTCTCTCCCCTCTCTCCTCT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0017 a0001c0001t0022g0017	1	113	0.0088	40	c.-24 others(57): Show c.-24-2141_-24-2140insAGAGGAGAGAGGGGAGAGAGGAGAGAGG AGAGAGGAGGAG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P2RY8_chrX_1457581_1542185	1509741	G G	GTATCTAT others(33): Show GTATCTATCTATGTATCTATGTATCTATCTATGTATCTATC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02165.hp1 HG02451.hp2 others(3): Show HG00544.hp2 HG02165.hp1 HG02451.hp2 HG02897.hp2 NA18970.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0007 a0001c0003t0012 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0003t0012 a0001c0003t0013	a0001c0001t0001g0005 a0001c0001t0001g0077 a0001c0001t0001g0094 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0077 a0001c0001t0001g0094 a0001c0001t0007g0074 a0001c0003t0012g0002 a0001c0003t0013g0001	6	97	0.0619	40	c.-25 others(59): Show c.-25+27179_-25+27180insGATAGATACATAGATAGATACATAGA TACATAGATAGATA	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P3H2_chr3_189951728_190125897	190007959	G G	GACACACA others(33): Show GACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0075 a0001c0001t0007g0075	1	282	0.0035	40	c.481 others(59): Show c.481-12518_481-12517insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(33): Show CACACACACACACACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA19088.hp2 NA18992.hp1 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0067 a0001c0002t0003g0161 a0001c0002t0003g0067 a0001c0002t0003g0161	2	24	0.0833	40	c.481 others(59): Show c.481-12524_481-12523insATATATATATATATATATATATATAT GTGTGTGTGTGTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(33): Show CACACACACACACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03195.hp2 HG02135.hp1 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0005 a0001c0002t0003 a0001c0003t0005	a0001c0002t0003g0137 a0001c0003t0005g0076 a0001c0002t0003g0137 a0001c0003t0005g0076	2	24	0.0833	40	c.481 others(59): Show c.481-12524_481-12523insATATATATATATATATATATATATAT ATGTGTGTGTGTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190041020	C C	CTATATAT others(33): Show CTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0109 a0001c0002t0001g0109	1	158	0.0063	40	c.481 others(59): Show c.481-45579_481-45578insTATATATATATATATATATATATATA TATATATATATATA	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190097636	C C	CACAACAA others(33): Show CACAACAATAAAATTATTTTATTGTTGTTGGATTACCCACA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02735.hp2 HG01361.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0080 a0001c0003t0001g0225 a0001c0001t0001g0080 a0001c0003t0001g0225	2	211	0.0095	40	c.480 others(59): Show c.480+22615_480+22616insTGTGGGTAATCCAACAACAATAAAAT AATTTTATTGTTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P4HA2_chr5_132185147_132232853	132208421	G G	GGGGGAGG others(33): Show GGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0104 a0001c0001t0033g0104	1	147	0.0068	40	c.904 others(55): Show c.904-538_904-537insTCTCCCCTCTCCCCTCCCCTCCCCCTCCCC TCCCCTCCCC	P4HA2	ENSG00000072682.20	transcript	ENST00000360568.8	protein_coding	7/14			chr5	TogoVar
PAAF1_chr11_73871999_73936114	73897400	T T	TGGGCGGA others(33): Show TGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGTGGCTGCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0039 a0001c0008t0039	a0001c0008t0039g0263 a0001c0008t0039g0263	1	368	0.0027	40	c.283 others(57): Show c.283-1714_283-1713insTGGCTGCCGGGCGGAGGGGCTCCTCACT TCTCAGACGGGG	PAAF1	ENSG00000175575.13	transcript	ENST00000310571.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PABIR3_chrX_134802237_134859832	134828047	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	58	0.0172	40	c.190 others(57): Show c.190-1178_190-1177insCTCTCTCTCTCTCTCTATATATATATAT ATATATATATAT	PABIR3	ENSG00000156500.16	transcript	ENST00000645433.2	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PACRG_chr6_162722974_163320500	162892864	A A	AAGAACCA others(33): Show AAGAACCACCTCAGCCTCAGGAGCCTCGGCCCACACCCCAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp1 HG02572.hp2 others(7): Show HG02258.hp2 HG02451.hp1 HG02572.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02976.hp1 HG03453.hp2 HG06807.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0002t0018	a0001c0001t0001g0004 a0001c0001t0002g0042 a0001c0001t0002g0048 others(7): Show a0001c0001t0001g0004 a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0002g0056 a0001c0001t0003g0014 a0001c0001t0003g0068 a0001c0001t0003g0102 a0001c0001t0003g0119 a0001c0001t0009g0088 a0001c0002t0018g0063	10	130	0.0769	40	c.291 others(59): Show c.291+78628_291+78667dupCCACCTCAGCCTCAGGAGCCTCGGCC CACACCCCAGAGAA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162947595	C C	CATATATA others(33): Show CATATATATATATAATCATATATATATATATATAATCATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02109.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0028 a0001c0001t0003g0016 a0001c0001t0003g0028	2	85	0.0235	40	c.292 others(61): Show c.292-114522_292-114521insATCATATATATATATATATAATCA TATATATATATATATA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162981305	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	115	0.0087	40	c.292 others(59): Show c.292-80844_292-80843insATATATATATATATATATATATATAT ATATATATATATTT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163197419	A A	ATTTTCTT others(33): Show ATTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	130	0.0077	40	c.613 others(61): Show c.613+108030_613+108031insCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163230732	T T	TGAAGAAC others(33): Show TGAAGAACGCAGGATGGTGTGTAATGCCGAACTGCTGTAGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00741.hp2 others(27): Show HG00280.hp2 HG00323.hp1 HG00741.hp2 HG01109.hp1 HG01243.hp1 HG01243.hp2 HG01891.hp2 HG02055.hp2 HG02145.hp2 HG02257.hp2 HG02451.hp2 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG04184.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18955.hp2 NA18959.hp1 NA18981.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0002t0010 a0001c0003t0009 a0001c0004t0003	a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0038 others(27): Show a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0052 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0002g0024 a0001c0001t0002g0037 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0018 a0001c0001t0003g0057 a0001c0001t0003g0091 a0001c0001t0003g0102 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0005g0072 a0001c0001t0008g0069 a0001c0001t0009g0088 a0001c0001t0013g0013 a0001c0002t0010g0064 a0001c0003t0009g0081 a0001c0004t0003g0045	30	112	0.2679	40	c.614 others(59): Show c.614-84094_614-84055dupGAAGAACGCAGGATGGTGTGTAATGC CGAACTGCTGTAGG	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACS2_chr14_105309748_105403147	105370278	C C	CCCCCCAC others(33): Show CCCCCCACTATTGACATGGACCCCCCTTCCCACCTGACAGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp2 HG02896.hp1 others(3): Show HG01891.hp2 HG02559.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1 HG06807.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0013 a0002c0002 a0007c0013	a0002c0002t0003 a0007c0013t0015 a0002c0002t0003 a0007c0013t0015	a0002c0002t0003g0179 a0002c0002t0003g0181 a0002c0002t0003g0182 others(3): Show a0002c0002t0003g0179 a0002c0002t0003g0181 a0002c0002t0003g0182 a0002c0002t0003g0196 a0002c0002t0003g0197 a0007c0013t0015g0024	6	188	0.0319	40	c.801 others(55): Show c.801+396_801+397insACCCCCCTTCCCACCTGACAGTCCCCCACT ATTGACATGG	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PADI1_chr1_17200128_17251007	17235277	A A	AGGAAGGA others(33): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG01123.hp1 others(13): Show HG00140.hp2 HG00408.hp1 HG01123.hp1 HG01192.hp1 HG01516.hp1 HG01517.hp2 HG02083.hp1 HG02132.hp2 HG02165.hp2 HG02922.hp1 HG04199.hp1 NA18612.hp2 NA18951.hp1 NA18970.hp2 NA18989.hp2 NA19009.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0017 a0001c0029 a0001c0034 a0003c0030	a0001c0001t0012 a0001c0002t0001 a0001c0004t0001 others(4): Show a0001c0001t0012 a0001c0002t0001 a0001c0004t0001 a0001c0017t0001 a0001c0029t0001 a0001c0034t0001 a0003c0030t0001	a0001c0001t0012g0052 a0001c0002t0001g0043 a0001c0002t0001g0117 others(12): Show a0001c0001t0012g0052 a0001c0002t0001g0043 a0001c0002t0001g0117 a0001c0002t0001g0156 a0001c0002t0001g0214 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0272 a0001c0002t0001g0296 a0001c0002t0001g0312 a0001c0004t0001g0005 a0001c0017t0001g0022 a0001c0029t0001g0126 a0001c0034t0001g0028 a0003c0030t0001g0137	16	353	0.0453	40	c.131 others(59): Show c.1314-2022_1314-2021insAGGAAGGAAGGAAGGAAGGAAGGAGG GAAGGAAGGAAGGA	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI1_chr1_17200128_17251007	17235281	A A	AGGAAGGA others(33): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0051 a0001c0001t0006g0051	1	386	0.0026	40	c.131 others(59): Show c.1314-2022_1314-2021insAGGAAGGAAGGAAGGAAGGAAGGAAG GAGGGAAGGAAGGA	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI1_chr1_17200128_17251007	17235281	A A	AGGAAGGA others(33): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02630.hp2 others(6): Show HG02055.hp1 HG02145.hp2 HG02630.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG03098.hp2 HG03516.hp1 NA18522.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0005 a0010c0019 a0001c0001 a0001c0005 a0010c0019	a0001c0001t0005 a0001c0001t0006 a0001c0005t0005 others(1): Show a0001c0001t0005 a0001c0001t0006 a0001c0005t0005 a0010c0019t0024	a0001c0001t0005g0034 a0001c0001t0005g0382 a0001c0001t0006g0015 others(5): Show a0001c0001t0005g0034 a0001c0001t0005g0382 a0001c0001t0006g0015 a0001c0001t0006g0040 a0001c0001t0006g0322 a0001c0005t0005g0038 a0001c0005t0005g0340 a0010c0019t0024g0389	9	394	0.0228	40	c.131 others(59): Show c.1314-2022_1314-2021insAGGAAGGAAGGAAGGAAGGAAGGAGG GAGGGAAGGAAGGA	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI1_chr1_17200128_17251007	17235289	A A	AGGAAGGA others(33): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18940.hp1 HG03579.hp1 NA18940.hp1	a0001 a0013 a0001 a0013	a0001c0002 a0013c0028 a0001c0002 a0013c0028	a0001c0002t0026 a0013c0028t0001 a0001c0002t0026 a0013c0028t0001	a0001c0002t0026g0384 a0013c0028t0001g0086 a0001c0002t0026g0384 a0013c0028t0001g0086	2	374	0.0053	40	c.131 others(59): Show c.1314-2022_1314-2021insAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAGGGA	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAEP_chr9_135556756_135571955	135563345	A A	AACAGGTG others(33): Show AACAGGTGGGCAGGTGAGCAGGTGGTTAGGTGAACAGGTGG	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18944.hp2 NA18994.hp2 others(1): Show HG02135.hp1 NA18944.hp2 NA18994.hp2 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0010 a0002c0002t0002g0010	4	462	0.0087	40	c.310 others(55): Show c.310+452_310+453insACAGGTGGGCAGGTGAGCAGGTGGTTAGGT GAACAGGTGG	PAEP	ENSG00000122133.17	transcript	ENST00000479141.6	protein_coding	3/6			chr9	TogoVar
PAFAH1B1_chr17_2588654_2690615	2664665	G G	GCGCGCTC others(33): Show GCGCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0221 a0001c0001t0003g0221	1	208	0.0048	40	c.33- others(53): Show c.33-706_33-705insGCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTC	PAFAH1B1	ENSG00000007168.14	transcript	ENST00000397195.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
PAK2_chr3_196734857_196837647	196762154	A A	ACGCTCCT others(33): Show ACGCTCCTCACTTCCTAGATGTGATGGCGGCTGGGAAGAGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG01070.hp1 others(45): Show HG00639.hp2 HG00642.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp2 HG01346.hp2 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp2 HG01975.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp2 HG02074.hp2 HG02083.hp1 HG02135.hp1 HG02135.hp2 HG02273.hp2 HG02451.hp1 HG02622.hp1 HG02647.hp1 HG02818.hp2 HG02895.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03927.hp1 HG03942.hp1 HG04228.hp2 NA18906.hp1 NA18940.hp1 NA18945.hp1 NA18954.hp1 NA18970.hp2 NA18995.hp1 NA18995.hp2 NA19005.hp1 NA19043.hp2 NA19079.hp2 NA19085.hp2 NA19088.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 others(20): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0026 a0001c0001t0053 a0001c0001t0058 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0002t0010 a0001c0002t0057 a0001c0002t0059 a0003c0006t0010	a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(45): Show a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0106 a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0001t0007g0071 a0001c0001t0012g0128 a0001c0001t0012g0129 a0001c0001t0016g0074 a0001c0001t0016g0076 a0001c0001t0016g0110 a0001c0001t0017g0100 a0001c0001t0017g0101 a0001c0001t0017g0103 a0001c0001t0018g0083 a0001c0001t0018g0084 a0001c0001t0018g0108 a0001c0001t0026g0098 a0001c0001t0026g0099 a0001c0001t0053g0006 a0001c0001t0058g0097 a0001c0001t0060g0107 a0001c0001t0061g0102 a0001c0001t0062g0085 a0001c0001t0063g0109 a0001c0001t0064g0112 a0001c0001t0065g0075 a0001c0001t0066g0087 a0001c0001t0067g0055 a0001c0001t0068g0091 a0001c0001t0069g0072 a0001c0002t0010g0105 a0001c0002t0057g0077 a0001c0002t0059g0113 a0003c0006t0010g0104	48	176	0.2727	40	c.-21 others(59): Show c.-21-20452_-21-20451insTGATGGCGGCTGGGAAGAGGCGCTCC TCACTTCCTAGATG	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196811321	T T	TCCTTTCC others(33): Show TCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01255.hp2 HG02074.hp2 others(11): Show HG01169.hp1 HG01255.hp2 HG02074.hp2 HG02083.hp1 HG02135.hp2 HG02895.hp1 HG02897.hp2 HG03927.hp1 NA18940.hp1 NA18954.hp1 NA18980.hp1 NA19005.hp2 NA19085.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0018 others(4): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0018 a0001c0001t0045 a0001c0001t0047 a0001c0001t0049 a0001c0001t0068	a0001c0001t0002g0078 a0001c0001t0002g0082 a0001c0001t0002g0090 others(11): Show a0001c0001t0002g0078 a0001c0001t0002g0082 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0114 a0001c0001t0011g0137 a0001c0001t0011g0139 a0001c0001t0018g0084 a0001c0001t0018g0108 a0001c0001t0045g0025 a0001c0001t0047g0011 a0001c0001t0049g0018 a0001c0001t0068g0091	14	75	0.1867	40	c.773 others(55): Show c.773+672_773+673insTCCTTCCTTCCTTCCCTTCCCTCCCTTCCT TCCCTCCCTT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK5_chr20_9532370_9844076	9766387	T T	TATATTCT others(33): Show TATATTCTACTTACTTGAATATATATATTCTACTTACTTGA	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18946.hp2 HG03579.hp2 NA18946.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0018 a0002c0001t0001 a0001c0004t0018 a0002c0001t0001	a0001c0004t0018g0127 a0002c0001t0001g0010 a0001c0004t0018g0127 a0002c0001t0001g0010	2	204	0.0098	40	c.-16 others(61): Show c.-161-54953_-161-54952insTCAAGTAAGTAGAATATATATATT CAAGTAAGTAGAATAT	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PAK5_chr20_9532370_9844076	9766416	T T	TATATTCT others(33): Show TATATTCTACTTACTTGAATATATATATTCTACTTACTTGA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0005 a0002c0007t0005	a0002c0007t0005g0100 a0002c0007t0005g0100	1	114	0.0088	40	c.-16 others(61): Show c.-161-54982_-161-54981insTCAAGTAAGTAGAATATATATATT CAAGTAAGTAGAATAT	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PALD1_chr10_70473767_70573450	70508843	C C	CTGTGTGT others(33): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03486.hp1 HG02523.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0030 a0001c0001t0002 a0001c0004t0030	a0001c0001t0002g0075 a0001c0004t0030g0228 a0001c0001t0002g0075 a0001c0004t0030g0228	2	49	0.0408	40	c.-29 others(59): Show c.-29-17066_-29-17065insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTG	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar

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