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
PLAT_chr8_42169718_42212565	42203992	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0300 a0001c0002t0001g0300	1	234	0.0043	30	c.-27 others(47): Show c.-27+3501_-27+3502insGTGTATATATATATATATATATATATAT AT	PLAT	ENSG00000104368.19	transcript	ENST00000220809.9	protein_coding	1/13			chr8	TogoVar
PLAT_chr8_42169718_42212565	42203992	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0297 a0001c0002t0001g0298	2	235	0.0085	30	c.-27 others(47): Show c.-27+3501_-27+3502insGTATATATATATATATATATATATATAT AT	PLAT	ENSG00000104368.19	transcript	ENST00000220809.9	protein_coding	1/13			chr8	TogoVar
PLAUR_chr19_43643579_43675169	43645481	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG03130.hp2 HG02280.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0171 a0001c0001t0001g0025 a0001c0001t0001g0171	2	378	0.0053	30	c.34 others(41): Show c.3408_*3409insCACACACACACACACACACACACACACACA	PLAUR	ENSG00000011422.12	transcript	ENST00000340093.8	protein_coding		3097		chr19	TogoVar
PLCB1_chr20_8127266_8889900	8130116	G G	GAGGAAAG others(23): Show GAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp2 HG01346.hp1 others(7): Show HG01109.hp1 HG01109.hp2 HG01346.hp1 HG01496.hp1 HG02258.hp2 HG02683.hp2 HG02895.hp2 HG03041.hp1 HG03471.hp2 HG03492.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0002c0025 a0003c0015	a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 others(6): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0002t0013 a0001c0005t0008 a0001c0006t0006 a0001c0007t0010 a0002c0025t0001 a0003c0015t0008	a0001c0001t0003g0012 a0001c0001t0003g0045 a0001c0001t0006g0028 others(7): Show a0001c0001t0003g0012 a0001c0001t0003g0045 a0001c0001t0006g0028 a0001c0001t0010g0008 a0001c0002t0013g0005 a0001c0005t0008g0003 a0001c0006t0006g0024 a0001c0007t0010g0006 a0002c0025t0001g0044 a0003c0015t0008g0002	10	46	0.2174	30	c.-25 others(41): Show c.-2536_-2535insAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding		2149		chr20	TogoVar
PLCB1_chr20_8127266_8889900	8490869	T T	TATATATA others(23): Show TATATATATGTACACATATCTATATGTACAC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0039 a0001c0004t0003g0039	1	106	0.0094	30	c.246 others(51): Show c.246+119430_246+119459dupACACATATCTATATGTACACATAT ATATGT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8523490	C C	CCATATAT others(23): Show CCATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA20129.hp2 NA20752.hp1 HG03139.hp2 NA20129.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0022 a0001c0001 a0001c0005 a0001c0022	a0001c0001t0018 a0001c0005t0002 a0001c0022t0015 a0001c0001t0018 a0001c0005t0002 a0001c0022t0015	a0001c0001t0018g0066 a0001c0005t0002g0049 a0001c0022t0015g0103 a0001c0001t0018g0066 a0001c0005t0002g0049 a0001c0022t0015g0103	3	65	0.0462	30	c.247 others(51): Show c.247-104804_247-104803insCATATATATATATATATATATATA TATATA	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	3/31			chr20	TogoVar
PLCB1_chr20_8127266_8889900	8523496	C C	CTCTATAT others(23): Show CTCTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0009 a0002c0024t0009	a0002c0024t0009g0081 a0002c0024t0009g0081	1	28	0.0357	30	c.247 others(51): Show c.247-104797_247-104796insCTATATATATATATATATATATAT ATATAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8523496	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0006 a0001c0010t0006	a0001c0010t0006g0085 a0001c0010t0006g0085	1	28	0.0357	30	c.247 others(51): Show c.247-104797_247-104796insCTCTCTCTCTCTATATATATATAT ATATAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8523496	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0069 a0001c0003t0002g0069	1	28	0.0357	30	c.247 others(51): Show c.247-104797_247-104796insCTCTCTCTCTCTCTATATATATAT ATATAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8643742	G G	GCCCTCTC others(23): Show GCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01891.hp1 HG02647.hp1 others(7): Show HG01074.hp1 HG01891.hp1 HG02647.hp1 HG02895.hp1 HG02970.hp2 HG03209.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0003 a0001c0001t0014 a0001c0002t0001 others(6): Show a0001c0001t0003 a0001c0001t0014 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0004t0003 a0001c0004t0019 a0001c0005t0007 a0001c0006t0002	a0001c0001t0003g0045 a0001c0001t0014g0007 a0001c0002t0001g0020 others(7): Show a0001c0001t0003g0045 a0001c0001t0014g0007 a0001c0002t0001g0020 a0001c0002t0003g0023 a0001c0003t0001g0029 a0001c0004t0003g0016 a0001c0004t0019g0058 a0001c0005t0007g0032 a0001c0006t0002g0054 a0001c0006t0002g0055	10	55	0.1818	30	c.385 others(47): Show c.385-2353_385-2324dupCCCTCTCCCTCTCCCTCTCCCTCTCCCT CT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8643753	C C	CTCCCTCT others(23): Show CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01517.hp2 HG01934.hp2 others(2): Show HG01496.hp2 HG01517.hp2 HG01934.hp2 HG02683.hp1 NA20300.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0006c0020	a0001c0001t0001 a0001c0001t0004 a0001c0003t0005 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0005 a0001c0004t0005 a0006c0020t0004	a0001c0001t0001g0015 a0001c0001t0004g0025 a0001c0003t0005g0048 others(2): Show a0001c0001t0001g0015 a0001c0001t0004g0025 a0001c0003t0005g0048 a0001c0004t0005g0057 a0006c0020t0004g0071	5	106	0.0472	30	c.385 others(47): Show c.385-2324_385-2323insCCCTTTCCCTCTCCCTCTCCCTCTCCCT CT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8643765	C C	CTCCCTCT others(23): Show CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0021 a0001c0004t0021	a0001c0004t0021g0042 a0001c0004t0021g0042	1	106	0.0094	30	c.385 others(47): Show c.385-2324_385-2323insCCCTCTCCCTCTCCCTTTCCCTCTCCCT CT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8676434	G G	GAAAGAAA others(23): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0064 a0001c0001t0016g0064	1	100	0.0100	30	c.863 others(47): Show c.863-8497_863-8496insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AA	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8681086	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0007 a0001c0001t0014g0007	1	12	0.0833	30	c.863 others(47): Show c.863-3845_863-3844insGTGTGTGTGTATATATATATATATATAT AT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8744616	T T	TAAATAAA others(23): Show TAAATAAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp2 HG00639.hp1 HG01074.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0024 a0001c0002 a0002c0024	a0001c0002t0005 a0002c0024t0009 a0001c0002t0005 a0002c0024t0009	a0001c0002t0005g0060 a0002c0024t0009g0081 a0001c0002t0005g0060 a0002c0024t0009g0081	2	33	0.0606	30	c.252 others(49): Show c.2523+3057_2523+3086dupTAAAATAAAATAAAATAAAATAAAAT AAAA	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	23/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB4_chr20_9064087_9485808	9330306	G G	GCCTCTTC others(23): Show GCCTCTTCCTCAGACTCCTCTTTGTTTCTCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0091	1	138	0.0072	30	c.85- others(45): Show c.85-6817_85-6788dupTCTTCCTCAGACTCCTCTTTGTTTCTCTCC	PLCB4	ENSG00000101333.19	transcript	ENST00000378473.9	protein_coding	4/39		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCD1_chr3_38002496_38034642	38007400	G G	GACACACA others(23): Show GACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02970.hp2 HG02717.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0040 a0001c0004t0002g0149 a0001c0001t0001g0040 a0001c0004t0002g0149	2	23	0.0870	30	c.37 others(39): Show c.372_*373insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	PLCD1	ENSG00000187091.14	transcript	ENST00000334661.5	protein_coding		95		chr3	TogoVar
PLCE1_chr10_93988931_94337823	94106912	T T	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0003 a0005c0012t0003	a0005c0012t0003g0113 a0005c0012t0003g0113	1	25	0.0400	30	c.120 others(51): Show c.1207-25259_1207-25230dupTCTCTCTCTCTCTCTCTCTCTCTC TCTCTC	PLCE1	ENSG00000138193.17	transcript	ENST00000371380.8	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLCG2_chr16_81774291_81967685	81803558	C C	CTTCCTTT others(23): Show CTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0035 a0001c0007t0035	a0001c0007t0035g0244 a0001c0007t0035g0244	1	54	0.0185	30	c.193 others(49): Show c.193+17404_193+17405insCTTTCCTTTCCTTTCCTTTCCTTTCC TTTC	PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr16	TogoVar
PLCG2_chr16_81774291_81967685	81824003	T T	TCTTTCCT others(23): Show TCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0013 a0001c0005t0012g0013	1	327	0.0031	30	c.194 others(49): Show c.194-30441_194-30440insCTTTCCTTTCCTTTCCTTTCCTTTCC TTTC	PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding	2/32			chr16	TogoVar
PLCG2_chr16_81774291_81967685	81824004	T T	TTTTCCTT others(23): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02735.hp1 HG02818.hp1 others(2): Show HG02486.hp2 HG02735.hp1 HG02818.hp1 HG02976.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0007 others(2): Show a0001c0002 a0001c0006 a0001c0007 a0001c0017 a0001c0060	a0001c0002t0005 a0001c0006t0007 a0001c0007t0035 others(2): Show a0001c0002t0005 a0001c0006t0007 a0001c0007t0035 a0001c0017t0005 a0001c0060t0005	a0001c0002t0005g0016 a0001c0006t0007g0160 a0001c0007t0035g0244 others(2): Show a0001c0002t0005g0016 a0001c0006t0007g0160 a0001c0007t0035g0244 a0001c0017t0005g0017 a0001c0060t0005g0240	5	54	0.0926	30	c.194 others(49): Show c.194-30423_194-30394dupTTCCTTTCCTTTCCTTTCCTTTCCTT TCCT	PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr16	TogoVar
PLCH1_chr3_155474881_155750071	155568754	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0004 a0003c0007t0004	a0003c0007t0004g0039 a0003c0007t0004g0039	1	130	0.0077	30	c.772 others(45): Show c.772-431_772-430insCACACACACACACACACACACACACACACA	PLCH1	ENSG00000114805.18	transcript	ENST00000460012.7	protein_coding	6/22			chr3	TogoVar
PLCH1_chr3_155474881_155750071	155699822	T T	TCACACAC others(23): Show TCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	13	0.0769	30	c.79+ others(45): Show c.79+4323_79+4324insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	PLCH1	ENSG00000114805.18	transcript	ENST00000460012.7	protein_coding	2/22			chr3	TogoVar
PLCL1_chr2_197799593_198154863	197924136	G G	GGGGAGAG others(23): Show GGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03041.hp1 HG02630.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0005 a0002c0002t0001 a0002c0002t0005	a0002c0002t0001g0115 a0002c0002t0005g0129 a0002c0002t0001g0115 a0002c0002t0005g0129	2	58	0.0345	30	c.240 others(51): Show c.240+118818_240+118847dupGAGAGGGAGAGGGAGAGGGAGAGG GAGAGG	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCXD1_chrX_276381_308356	287625	G G	GTTTATAT others(23): Show GTTTATATATAGATATAGATACTATATATGT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0123 a0001c0002t0008g0123	1	174	0.0057	30	c.128 others(47): Show c.128-1105_128-1076dupTATATATAGATATAGATACTATATATGT TT	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD3_chr5_41301952_41515601	41403408	T T	TTTTTTTT others(23): Show TTTTTTTTTTTTTTGTTTTTGTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03195.hp1 HG03540.hp1 others(1): Show HG03139.hp2 HG03195.hp1 HG03540.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0011 a0001c0002t0009 a0001c0002t0011	a0001c0002t0009g0224 a0001c0002t0009g0225 a0001c0002t0009g0226 others(1): Show a0001c0002t0009g0224 a0001c0002t0009g0225 a0001c0002t0009g0226 a0001c0002t0011g0165	4	220	0.0182	30	c.104 others(49): Show c.104-20875_104-20874insTAAAAAAAAACAAAAACAAAAAAAAA AAAA	PLCXD3	ENSG00000182836.11	transcript	ENST00000377801.8	protein_coding	1/2			chr5	TogoVar
PLCZ1_chr12_18678180_18743012	18696322	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18971.hp1 HG02056.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0136 a0001c0001t0001g0019 a0001c0001t0001g0136	2	18	0.1111	30	c.117 others(45): Show c.1175-57_1175-56insTATATATATATATATATATATATATATATA	PLCZ1	ENSG00000139151.16	transcript	ENST00000266505.12	protein_coding	10/14			chr12	TogoVar
PLCZ1_chr12_18678180_18743012	18696348	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	312	0.0032	30	c.117 others(45): Show c.1175-83_1175-82insGATATATATATATATATATATATATATATA	PLCZ1	ENSG00000139151.16	transcript	ENST00000266505.12	protein_coding	10/14			chr12	TogoVar
PLD5_chr1_242077986_242529697	242394186	A A	ATATATGT others(23): Show ATATATGTGTATATATGAGTATATATATGTG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02572.hp2 HG02622.hp1 others(3): Show HG01943.hp2 HG02572.hp2 HG02622.hp1 HG02896.hp1 HG03130.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 a0001c0001t0079 a0001c0002t0060 a0001c0002t0066	a0001c0001t0001g0030 a0001c0001t0006g0072 a0001c0001t0015g0009 others(3): Show a0001c0001t0001g0030 a0001c0001t0006g0072 a0001c0001t0015g0009 a0001c0001t0079g0183 a0001c0002t0060g0130 a0001c0002t0066g0132	6	186	0.0323	30	c.190 others(49): Show c.190-45945_190-45944insCACATATATATACTCATATATACACA TATA	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLD5_chr1_242077986_242529697	242494091	T T	TTCCCCTC others(23): Show TTCCCCTCTCCTCCCCTCTCCTCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03225.hp1 NA18906.hp1 HG03041.hp2 HG03225.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0041 a0001c0002t0003 a0001c0001t0007 a0001c0001t0041 a0001c0002t0003	a0001c0001t0007g0039 a0001c0001t0041g0008 a0001c0002t0003g0143 a0001c0001t0007g0039 a0001c0001t0041g0008 a0001c0002t0003g0143	3	127	0.0236	30	c.189 others(49): Show c.189+29967_189+29996dupGGAGAGGGGAGGAGAGGGGAGGAGAG GGGA	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLEKHA5_chr12_19124733_19381400	19167405	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0309 a0001c0001t0007g0309	1	48	0.0208	30	c.227 others(49): Show c.227+34984_227+34985insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PLEKHA5	ENSG00000052126.17	transcript	ENST00000429027.7	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHA5_chr12_19124733_19381400	19253064	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0219 a0001c0001t0009g0219	1	67	0.0149	30	c.228 others(45): Show c.228-850_228-849insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PLEKHA5	ENSG00000052126.17	transcript	ENST00000429027.7	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHA5_chr12_19124733_19381400	19334829	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	109	0.0092	30	c.244 others(49): Show c.2449-1685_2449-1684insAAAAAAAAAAAATATATATATATATA TATA	PLEKHA5	ENSG00000052126.17	transcript	ENST00000429027.7	protein_coding	20/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHA7_chr11_16772297_17019414	16891070	C C	CTCTATTC others(23): Show CTCTATTCTATTCTATTCTATTCTATTCTAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18966.hp2 HG02135.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0093 a0001c0001t0003g0141 a0001c0001t0002g0093 a0001c0001t0003g0141	2	91	0.0220	30	c.222 others(49): Show c.222-19889_222-19888insATAGAATAGAATAGAATAGAATAGAA TAGA	PLEKHA7	ENSG00000166689.18	transcript	ENST00000531066.6	protein_coding	3/26			chr11	TogoVar
PLEKHA7_chr11_16772297_17019414	16906302	T T	TCCTCCTC others(23): Show TCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01081.hp1 HG01175.hp2 others(1): Show HG01069.hp2 HG01081.hp1 HG01175.hp2 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0126 a0001c0001t0002g0101 a0001c0003t0001g0189 others(1): Show a0001c0001t0001g0126 a0001c0001t0002g0101 a0001c0003t0001g0189 a0001c0003t0001g0229	4	144	0.0278	30	c.222 others(49): Show c.222-35121_222-35120insGAGAGGGAGAGGAGGGAGAGGGAGAG GAGG	PLEKHA7	ENSG00000166689.18	transcript	ENST00000531066.6	protein_coding	3/26			chr11	TogoVar
PLEKHA7_chr11_16772297_17019414	16906326	C C	CCCTCTCC others(23): Show CCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0173 a0001c0003t0001g0173	1	242	0.0041	30	c.222 others(49): Show c.222-35145_222-35144insAGGGAGAGGGAGAGGAGGGAGAGGGA GAGG	PLEKHA7	ENSG00000166689.18	transcript	ENST00000531066.6	protein_coding	3/26			chr11	TogoVar
PLEKHD1_chr14_69479728_69536551	69498057	A A	ATTTATTT others(23): Show ATTTATTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0240 a0001c0002t0002g0240	1	155	0.0065	30	c.150 others(47): Show c.150-2038_150-2009dupTTTTATTTTATTTTATTTTATTTTATTT TA	PLEKHD1	ENSG00000175985.10	transcript	ENST00000322564.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
PLEKHD1_chr14_69479728_69536551	69498057	A A	ATTTTATT others(23): Show ATTTTATTTTATTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0010 a0001c0002t0004g0010	1	155	0.0065	30	c.150 others(47): Show c.150-2055_150-2054insTATTTTATTTATTTTATTTTATTTTATT TT	PLEKHD1	ENSG00000175985.10	transcript	ENST00000322564.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
PLEKHD1_chr14_69479728_69536551	69498588	T T	TTTCTCTT others(23): Show TTTCTCTTCTCTTCTCTTCTCTTCTCTTCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01346.hp2 HG01433.hp2 others(4): Show HG00140.hp1 HG01346.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG02970.hp1 HG03490.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0210 a0001c0003t0001g0219 a0001c0003t0001g0220 others(4): Show a0001c0003t0001g0210 a0001c0003t0001g0219 a0001c0003t0001g0220 a0001c0003t0001g0221 a0001c0003t0001g0242 a0001c0003t0001g0244 a0001c0003t0003g0189	7	102	0.0686	30	c.150 others(47): Show c.150-1499_150-1498insCCTTCTCTTCTCTTCTCTTCTCTTCTCT TC	PLEKHD1	ENSG00000175985.10	transcript	ENST00000322564.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
PLEKHD1_chr14_69479728_69536551	69498588	T T	TTTCTCTT others(23): Show TTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02717.hp2 NA18978.hp1 others(1): Show HG02165.hp2 HG02717.hp2 NA18978.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0275 a0001c0001t0003g0093 a0001c0002t0002g0282 others(1): Show a0001c0001t0001g0275 a0001c0001t0003g0093 a0001c0002t0002g0282 a0001c0002t0002g0296	4	99	0.0404	30	c.150 others(47): Show c.150-1482_150-1453dupCTTCTCTTCTCTTCTCTTCTCTTCTCTT CT	PLEKHD1	ENSG00000175985.10	transcript	ENST00000322564.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
PLEKHG1_chr6_150594885_150848665	150628575	C C	CACACACA others(23): Show CACACACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01123.hp2 HG01256.hp1 others(9): Show HG00280.hp1 HG01123.hp2 HG01256.hp1 HG01358.hp1 HG01496.hp1 HG01934.hp1 HG01934.hp2 HG02300.hp1 HG03490.hp2 HG03710.hp1 NA19001.hp1 NA19078.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0005c0014	a0001c0001t0011 a0001c0002t0005 a0001c0003t0001 others(6): Show a0001c0001t0011 a0001c0002t0005 a0001c0003t0001 a0001c0003t0005 a0001c0004t0010 a0001c0005t0006 a0001c0006t0004 a0001c0008t0003 a0005c0014t0003	a0001c0001t0011g0217 a0001c0002t0005g0202 a0001c0003t0001g0058 others(9): Show a0001c0001t0011g0217 a0001c0002t0005g0202 a0001c0003t0001g0058 a0001c0003t0005g0206 a0001c0004t0010g0074 a0001c0005t0006g0031 a0001c0006t0004g0037 a0001c0006t0004g0077 a0001c0006t0004g0078 a0001c0008t0003g0205 a0001c0008t0003g0215 a0005c0014t0003g0063	12	166	0.0723	30	c.-15 others(51): Show c.-157-22151_-157-22150insACACACACACACACACACACACAC ACATAC	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG1_chr6_150594885_150848665	150804155	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18971.hp1 HG02083.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0029 a0001c0012t0001 a0001c0001t0029 a0001c0012t0001	a0001c0001t0029g0104 a0001c0012t0001g0234 a0001c0001t0029g0104 a0001c0012t0001g0234	2	176	0.0114	30	c.781 others(45): Show c.781-434_781-433insATATATATATATATATATATATATATATAT	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG1_chr6_150594885_150848665	150804175	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02132.hp2 HG02040.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0224 a0001c0002t0001g0110 a0001c0002t0001g0224	2	193	0.0104	30	c.781 others(45): Show c.781-434_781-433insATATATATATATATATATATATATATATTT	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG1_chr6_150594885_150848665	150804175	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0004 a0004	a0004c0041 a0004c0041	a0004c0041t0007 a0004c0041t0007	a0004c0041t0007g0137 a0004c0041t0007g0137	1	192	0.0052	30	c.781 others(45): Show c.781-434_781-433insATATATATATATATATATATATATATTTTT	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG1_chr6_150594885_150848665	150804175	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0021 a0001c0037t0021	a0001c0037t0021g0181 a0001c0037t0021g0181	1	192	0.0052	30	c.781 others(45): Show c.781-434_781-433insATATATATATATATATATATATTTTTTTTT	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG4B_chr5_87168_194966	110404	C C	CACACCCA others(23): Show CACACCCACACAATCTGCAACACACATGCAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0031 a0031	a0031c0060 a0031c0060	a0031c0060t0020 a0031c0060t0020	a0031c0060t0020g0187 a0031c0060t0020g0187	1	208	0.0048	30	c.46- others(45): Show c.46-2823_46-2822insATGCATACACCCACACAATCTGCAACACAC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165147	A A	AGCTCACA others(23): Show AGCTCACACAGTAATGCTGTGACGGGGCGGG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0006 a0006	a0006c0072 a0006c0072	a0006c0072t0036 a0006c0072t0036	a0006c0072t0036g0206 a0006c0072t0036g0206	1	172	0.0058	30	c.347 others(49): Show c.3476+1607_3476+1608insAGTAATGCTGTGACGGGGCGGGGCTC ACAC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165262	T T	TCACAGTA others(23): Show TCACAGTACTCCTCTGACGGGGCGGAGCTCA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02004.hp1 HG02602.hp1 others(3): Show HG00323.hp1 HG02004.hp1 HG02602.hp1 HG02723.hp2 HG03516.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0016 a0001c0001t0026 a0001c0002t0003 others(2): Show a0001c0001t0016 a0001c0001t0026 a0001c0002t0003 a0001c0011t0006 a0001c0011t0083	a0001c0001t0016g0111 a0001c0001t0026g0024 a0001c0001t0026g0083 others(3): Show a0001c0001t0016g0111 a0001c0001t0026g0024 a0001c0001t0026g0083 a0001c0002t0003g0133 a0001c0011t0006g0135 a0001c0011t0083g0082	6	164	0.0366	30	c.347 others(49): Show c.3476+1717_3476+1718insAGTACTCCTCTGACGGGGCGGAGCTC ACAC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165305	C C	CGGGGCGG others(23): Show CGGGGCGGAGCTCACACTAATGCTGTGACAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0044 a0006c0021t0044	a0006c0021t0044g0199 a0006c0021t0044g0199	1	174	0.0057	30	c.347 others(49): Show c.3476+1764_3476+1765insAGCTCACACTAATGCTGTGACAGGGG GCGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165393	G G	GCGGAGCT others(23): Show GCGGAGCTCACACTAATGCTGTGACAGGGGT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0044 a0006c0021t0044	a0006c0021t0044g0199 a0006c0021t0044g0199	1	208	0.0048	30	c.347 others(49): Show c.3476+1864_3476+1865insGTGACAGGGGTCGGAGCTCACACTAA TGCT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar

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