JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
PKD1_chr16_2083708_2140898	2097870	C C	CAGCGTGG others(13): Show CAGCGTGGAGGCCTGAGAACG	frameshift_variant frameshift_variant	HIGH	HG01978.hp2 HG01978.hp2	a0042 a0042	a0042c0035 a0042c0035	a0042c0035t0001 a0042c0035t0001	a0042c0035t0001g0086 a0042c0035t0001g0086	1	216	0.0046	20	c.101 others(31): Show c.10145_10164dupCGTTCTCAGGCCTCCACGCT	p.Glu others(6): Show p.Glu3389fs	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	31/46	10373/14140	10164/12912	3388/4303		chr16	TogoVar
PKD1_chr16_2083708_2140898	2099955	GAGTGAAA others(7): Show GAGTGAAACGGCTAC	G G	frameshift_variant frameshift_variant	HIGH	HG03239.hp1 HG03239.hp1	a0021 a0021	a0021c0119 a0021c0119	a0021c0119t0007 a0021c0119t0007	a0021c0119t0007g0155 a0021c0119t0007g0155	1	216	0.0046	-14	c.981 others(23): Show c.9815_9828delGTAGCCGTTTCACT	p.Arg others(6): Show p.Arg3272fs	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	29/46	10037/14140	9815/12912	3272/4303		chr16	TogoVar
PKD1_chr16_2083708_2140898	2100445	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00423.hp1 HG00673.hp1 HG00673.hp2 others(14): Show HG00423.hp1 HG00673.hp1 HG00673.hp2 HG01099.hp2 HG01243.hp1 HG01255.hp2 HG01496.hp2 HG01934.hp1 HG01943.hp2 HG01993.hp1 HG02004.hp1 HG02293.hp2 HG02615.hp1 HG02717.hp1 HG03688.hp2 HG04228.hp1 NA19005.hp2	a0002 a0029 a0030 others(4): Show a0002 a0029 a0030 a0033 a0047 a0059 a0073	a0002c0004 a0002c0066 a0002c0082 others(9): Show a0002c0004 a0002c0066 a0002c0082 a0002c0088 a0002c0095 a0002c0096 a0029c0071 a0030c0093 a0033c0075 a0047c0098 a0059c0056 a0073c0029	a0002c0004t0001 a0002c0066t0001 a0002c0082t0002 others(9): Show a0002c0004t0001 a0002c0066t0001 a0002c0082t0002 a0002c0088t0003 a0002c0095t0001 a0002c0096t0001 a0029c0071t0001 a0030c0093t0001 a0033c0075t0001 a0047c0098t0001 a0059c0056t0002 a0073c0029t0001	a0002c0004t0001g0041 a0002c0004t0001g0060 a0002c0004t0001g0063 others(14): Show a0002c0004t0001g0041 a0002c0004t0001g0060 a0002c0004t0001g0063 a0002c0004t0001g0124 a0002c0004t0001g0127 a0002c0004t0001g0171 a0002c0066t0001g0103 a0002c0082t0002g0033 a0002c0088t0003g0054 a0002c0095t0001g0178 a0002c0096t0001g0076 a0029c0071t0001g0129 a0030c0093t0001g0064 a0033c0075t0001g0119 a0047c0098t0001g0046 a0059c0056t0002g0105 a0073c0029t0001g0159	17	216	0.0787	1	c.951 others(5): Show c.9518dupC	p.His others(6): Show p.His3174fs	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	27/46	9727/14140	9518/12912	3173/4303		chr16	TogoVar
PKD1_chr16_2083708_2140898	2103494	TCTGGAAT others(6): Show TCTGGAATGCCATC	T T	frameshift_variant frameshift_variant	HIGH	NA18960.hp2 NA18960.hp2	a0035 a0035	a0035c0081 a0035c0081	a0035c0081t0001 a0035c0081t0001	a0035c0081t0001g0035 a0035c0081t0001g0035	1	216	0.0046	-13	c.855 others(22): Show c.8550_8562delGATGGCATTCCAG	p.Met others(6): Show p.Met2851fs	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	23/46	8771/14140	8550/12912	2850/4303		chr16	TogoVar
PKD1_chr16_2083708_2140898	2103757	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG01069.hp2 HG01099.hp1 HG01346.hp2 others(11): Show HG01069.hp2 HG01099.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01978.hp1 HG02145.hp2 HG02622.hp2 HG02970.hp2 HG03471.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2	a0003 a0023 a0030 others(4): Show a0003 a0023 a0030 a0034 a0049 a0057 a0069	a0003c0042 a0003c0043 a0003c0076 others(11): Show a0003c0042 a0003c0043 a0003c0076 a0003c0077 a0003c0078 a0003c0079 a0003c0100 a0003c0115 a0023c0114 a0030c0093 a0034c0097 a0049c0064 a0057c0046 a0069c0109	a0003c0042t0012 a0003c0043t0001 a0003c0076t0001 others(11): Show a0003c0042t0012 a0003c0043t0001 a0003c0076t0001 a0003c0077t0001 a0003c0078t0002 a0003c0079t0001 a0003c0100t0001 a0003c0115t0003 a0023c0114t0001 a0030c0093t0001 a0034c0097t0001 a0049c0064t0001 a0057c0046t0011 a0069c0109t0004	a0003c0042t0012g0203 a0003c0043t0001g0206 a0003c0076t0001g0025 others(11): Show a0003c0042t0012g0203 a0003c0043t0001g0206 a0003c0076t0001g0025 a0003c0077t0001g0052 a0003c0078t0002g0116 a0003c0079t0001g0050 a0003c0100t0001g0098 a0003c0115t0003g0110 a0023c0114t0001g0160 a0030c0093t0001g0064 a0034c0097t0001g0169 a0049c0064t0001g0058 a0057c0046t0011g0201 a0069c0109t0004g0012	14	216	0.0648	1	c.829 others(5): Show c.8299dupC	p.Arg others(6): Show p.Arg2767fs	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	23/46	8508/14140	8299/12912	2767/4303		chr16	TogoVar
PKD1_chr16_2083708_2140898	2116101	GCCCGGGA others(7): Show GCCCGGGAATACCAT	G G	frameshift_variant frameshift_variant	HIGH	HG01099.hp2 HG01099.hp2	a0073 a0073	a0073c0029 a0073c0029	a0073c0029t0001 a0073c0029t0001	a0073c0029t0001g0159 a0073c0029t0001g0159	1	216	0.0046	-14	c.172 others(23): Show c.1726_1739delATGGTATTCCCGGG	p.Met others(5): Show p.Met576fs	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	9/46	1948/14140	1726/12912	576/4303		chr16	TogoVar
PKLR_chr1_155284293_155306438	155293554	TCGTTGGC others(10): Show TCGTTGGCCGGGGCTTGG	T T	frameshift_variant frameshift_variant	HIGH	NA19003.hp2 NA19003.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0185 a0005c0007t0002g0185	1	311	0.0032	-17	c.113 others(26): Show c.1136_1152delCCAAGCCCCGGCCAACG	p.Thr others(5): Show p.Thr379fs	PKLR	ENSG00000143627.19	transcript	ENST00000342741.6	protein_coding	8/11	1195/3047	1136/1725	379/574		chr1	TogoVar
PKN1_chr19_14428306_14476859	14451928	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00597.hp1 HG00597.hp2 HG01109.hp1 others(16): Show HG00597.hp1 HG00597.hp2 HG01109.hp1 HG01175.hp1 HG01192.hp2 HG01928.hp1 HG01934.hp1 HG02056.hp1 HG02148.hp1 HG02970.hp2 HG03225.hp2 HG03669.hp2 HG03831.hp2 HG04115.hp2 HG04204.hp1 NA18949.hp1 NA18965.hp2 NA18990.hp1 NA19005.hp2	a0004 a0009 a0010 a0004 a0009 a0010	a0004c0008 a0004c0012 a0004c0024 others(7): Show a0004c0008 a0004c0012 a0004c0024 a0004c0029 a0004c0032 a0004c0033 a0004c0034 a0004c0035 a0009c0022 a0010c0046	a0004c0008t0001 a0004c0012t0001 a0004c0024t0001 others(7): Show a0004c0008t0001 a0004c0012t0001 a0004c0024t0001 a0004c0029t0001 a0004c0032t0001 a0004c0033t0001 a0004c0034t0001 a0004c0035t0001 a0009c0022t0001 a0010c0046t0001	a0004c0008t0001g0109 a0004c0008t0001g0194 a0004c0008t0001g0281 others(16): Show a0004c0008t0001g0109 a0004c0008t0001g0194 a0004c0008t0001g0281 a0004c0008t0001g0301 a0004c0008t0001g0303 a0004c0008t0001g0308 a0004c0008t0001g0330 a0004c0012t0001g0086 a0004c0012t0001g0101 a0004c0012t0001g0144 a0004c0012t0001g0188 a0004c0024t0001g0108 a0004c0029t0001g0270 a0004c0032t0001g0297 a0004c0033t0001g0290 a0004c0034t0001g0339 a0004c0035t0001g0016 a0009c0022t0001g0306 a0010c0046t0001g0294	19	376	0.0505	1	c.107 others(5): Show c.1077dupC	p.Phe others(5): Show p.Phe360fs	PKN1	ENSG00000123143.13	transcript	ENST00000242783.11	protein_coding	7/22	1294/3120	1078/2829	360/942	INFO_REALIGN_3_PRIME	chr19	TogoVar
PKN1_chr19_14428306_14476859	14470639	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00621.hp2 HG02055.hp1 HG02055.hp2 others(11): Show HG00621.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02083.hp2 HG02145.hp1 HG02602.hp2 HG02809.hp2 HG03669.hp2 HG04184.hp1 NA18906.hp1 NA18946.hp1 NA18949.hp2 NA19056.hp1	a0004 a0005 a0013 a0004 a0005 a0013	a0004c0033 a0005c0009 a0005c0021 others(4): Show a0004c0033 a0005c0009 a0005c0021 a0005c0036 a0005c0041 a0005c0042 a0013c0027	a0004c0033t0001 a0005c0009t0001 a0005c0009t0003 others(5): Show a0004c0033t0001 a0005c0009t0001 a0005c0009t0003 a0005c0021t0001 a0005c0036t0001 a0005c0041t0001 a0005c0042t0001 a0013c0027t0001	a0004c0033t0001g0290 a0005c0009t0001g0045 a0005c0009t0001g0054 others(11): Show a0004c0033t0001g0290 a0005c0009t0001g0045 a0005c0009t0001g0054 a0005c0009t0001g0078 a0005c0009t0001g0304 a0005c0009t0001g0305 a0005c0009t0001g0333 a0005c0009t0003g0289 a0005c0021t0001g0104 a0005c0021t0001g0111 a0005c0036t0001g0001 a0005c0041t0001g0268 a0005c0042t0001g0233 a0013c0027t0001g0034	14	376	0.0372	1	c.250 others(5): Show c.2506dupC	p.Arg others(5): Show p.Arg836fs	PKN1	ENSG00000123143.13	transcript	ENST00000242783.11	protein_coding	20/22	2723/3120	2507/2829	836/942	INFO_REALIGN_3_PRIME	chr19	TogoVar
PKP3_chr11_389209_409908	397584	T T	TTCAGACC others(4): Show TTCAGACCCCAA	frameshift_variant frameshift_variant	HIGH	NA19065.hp1 NA19065.hp1	a0015 a0015	a0015c0032 a0015c0032	a0015c0032t0001 a0015c0032t0001	a0015c0032t0001g0157 a0015c0032t0001g0157	1	216	0.0046	11	c.991 others(19): Show c.991_1001dupTCAGACCCCAA	p.Leu others(5): Show p.Leu335fs	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/13	1086/2817	1002/2394	334/797	INFO_REALIGN_3_PRIME	chr11	TogoVar
PLA2R1_chr2_159927006_160067615	159987235	GC GC	G G	frameshift_variant frameshift_variant	HIGH	HG00639.hp1 HG01261.hp1 HG02280.hp2 others(8): Show HG00639.hp1 HG01261.hp1 HG02280.hp2 HG02622.hp2 HG02896.hp1 HG02897.hp1 HG03041.hp1 HG03209.hp2 HG03579.hp2 NA19030.hp2 NA20300.hp2	a0004 a0004	a0004c0005 a0004c0032 a0004c0005 a0004c0032	a0004c0005t0021 a0004c0005t0031 a0004c0005t0051 others(6): Show a0004c0005t0021 a0004c0005t0031 a0004c0005t0051 a0004c0005t0054 a0004c0005t0055 a0004c0005t0056 a0004c0005t0057 a0004c0005t0092 a0004c0032t0021	a0004c0005t0021g0023 a0004c0005t0021g0024 a0004c0005t0031g0017 others(8): Show a0004c0005t0021g0023 a0004c0005t0021g0024 a0004c0005t0031g0017 a0004c0005t0031g0027 a0004c0005t0051g0025 a0004c0005t0054g0016 a0004c0005t0055g0021 a0004c0005t0056g0020 a0004c0005t0057g0022 a0004c0005t0092g0219 a0004c0032t0021g0030	11	326	0.0337	-1	c.195 others(5): Show c.1957delG	p.Ala others(5): Show p.Ala653fs	PLA2R1	ENSG00000153246.13	transcript	ENST00000283243.13	protein_coding	12/30	2169/14376	1957/4392	653/1463		chr2	TogoVar
PLAC1_chrX_134560838_134663471	134566256	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0080 a0002c0003t0002g0080	1	252	0.0040	1	c.426 others(8): Show c.426_427insT	p.Asp others(5): Show p.Asp143fs	PLAC1	ENSG00000170965.10	transcript	ENST00000359237.9	protein_coding	3/3	700/1119	426/639	142/212		chrX	TogoVar
PLCXD1_chrX_276381_308356	284271	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0040 a0004c0017t0040	a0004c0017t0040g0165 a0004c0017t0040g0165	1	176	0.0057	1	c.88d others(3): Show c.88dupC	p.Arg others(4): Show p.Arg30fs	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	2/7	414/5318	89/972	30/323	INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	288771	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19062.hp1 NA19062.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0109 a0005c0015t0109	a0005c0015t0109g0113 a0005c0015t0109g0113	1	176	0.0057	1	c.171 others(4): Show c.171dupC	p.Ile others(4): Show p.Ile58fs	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	3/7	497/5318	172/972	58/323	INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	288788	G G	GT GT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18969.hp2 NA18969.hp2	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0001 a0006c0020t0001	a0006c0020t0001g0111 a0006c0020t0001g0111	1	176	0.0057	1	c.183 others(8): Show c.183_184insT	p.Glu others(4): Show p.Glu62fs	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	3/7	509/5318	184/972	62/323		chrX	TogoVar
PLCXD1_chrX_276381_308356	288799	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA18969.hp2 NA18969.hp2	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0001 a0006c0020t0001	a0006c0020t0001g0111 a0006c0020t0001g0111	1	176	0.0057	1	c.195 others(4): Show c.195dupG	p.Leu others(4): Show p.Leu66fs	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	3/7	521/5318	196/972	66/323	INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	288824	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA18969.hp2 NA18969.hp2	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0001 a0006c0020t0001	a0006c0020t0001g0111 a0006c0020t0001g0111	1	176	0.0057	-1	c.222 others(4): Show c.222delC	p.Cys others(4): Show p.Cys75fs	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	3/7	547/5318	222/972	74/323	INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	290728	GA GA	G G	frameshift_variant frameshift_variant	HIGH	NA18969.hp2 NA18969.hp2	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0001 a0006c0020t0001	a0006c0020t0001g0111 a0006c0020t0001g0111	1	176	0.0057	-1	c.347 others(4): Show c.347delA	p.Lys others(5): Show p.Lys116fs	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	4/7	672/5318	347/972	116/323	INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	299284	CG CG	C C	frameshift_variant frameshift_variant	HIGH	HG01993.hp1 HG01993.hp1	a0000 a0000	a0000c0018 a0000c0018	a0000c0018t0101 a0000c0018t0101	a0000c0018t0101g0132 a0000c0018t0101g0132	1	176	0.0057	-1	c.923 others(4): Show c.923delG	p.Gly others(5): Show p.Gly308fs	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	7/7	1248/5318	923/972	308/323	INFO_REALIGN_3_PRIME	chrX	TogoVar
PLD2_chr17_4802152_4828430	4814686	T T	TGGACATT others(10): Show TGGACATTATGCTCAAGA	frameshift_variant frameshift_variant	HIGH	NA18971.hp2 NA18971.hp2	a0028 a0028	a0028c0032 a0028c0032	a0028c0032t0001 a0028c0032t0001	a0028c0032t0001g0010 a0028c0032t0001g0010	1	450	0.0022	17	c.115 others(26): Show c.1152_1168dupCATTATGCTCAAGAGGA	p.Lys others(5): Show p.Lys390fs	PLD2	ENSG00000129219.14	transcript	ENST00000263088.11	protein_coding	12/25	1244/3443	1169/2802	390/933	INFO_REALIGN_3_PRIME	chr17	TogoVar
PLEC_chr8_143910153_143944597	143925061	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00609.hp1 HG00673.hp1 HG01192.hp1 others(25): Show HG00609.hp1 HG00673.hp1 HG01192.hp1 HG01192.hp2 HG01496.hp2 HG02145.hp2 HG02523.hp1 HG02523.hp2 HG02698.hp1 HG02738.hp1 HG03209.hp1 HG03688.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp2 NA18946.hp1 NA18947.hp2 NA18964.hp1 NA18964.hp2 NA18978.hp1 NA18994.hp2 NA19007.hp1 NA19057.hp2 NA19066.hp1 NA19080.hp1 NA19084.hp2 NA19091.hp1	a0005 a0011 a0024 others(6): Show a0005 a0011 a0024 a0027 a0029 a0041 a0070 a0083 a0103	a0005c0011 a0005c0038 a0005c0171 others(18): Show a0005c0011 a0005c0038 a0005c0171 a0005c0172 a0005c0173 a0005c0174 a0005c0175 a0005c0176 a0005c0177 a0005c0178 a0011c0017 a0011c0066 a0011c0067 a0024c0092 a0024c0096 a0027c0079 a0029c0044 a0041c0117 a0070c0179 a0083c0113 a0103c0045	a0005c0011t0001 a0005c0038t0001 a0005c0171t0008 others(18): Show a0005c0011t0001 a0005c0038t0001 a0005c0171t0008 a0005c0172t0001 a0005c0173t0001 a0005c0174t0001 a0005c0175t0001 a0005c0176t0001 a0005c0177t0001 a0005c0178t0001 a0011c0017t0002 a0011c0066t0002 a0011c0067t0002 a0024c0092t0003 a0024c0096t0005 a0027c0079t0001 a0029c0044t0002 a0041c0117t0002 a0070c0179t0001 a0083c0113t0004 a0103c0045t0002	a0005c0011t0001g0019 a0005c0011t0001g0045 a0005c0011t0001g0163 others(23): Show a0005c0011t0001g0019 a0005c0011t0001g0045 a0005c0011t0001g0163 a0005c0038t0001g0124 a0005c0038t0001g0214 a0005c0171t0008g0210 a0005c0172t0001g0211 a0005c0173t0001g0169 a0005c0174t0001g0164 a0005c0175t0001g0212 a0005c0176t0001g0213 a0005c0177t0001g0129 a0005c0178t0001g0165 a0011c0017t0002g0076 a0011c0017t0002g0081 a0011c0017t0002g0090 a0011c0066t0002g0077 a0011c0067t0002g0078 a0024c0092t0003g0246 a0024c0096t0005g0245 a0027c0079t0001g0266 a0029c0044t0002g0100 a0041c0117t0002g0221 a0070c0179t0001g0166 a0083c0113t0004g0116 a0103c0045t0002g0066	28	358	0.0782	1	c.486 others(5): Show c.4867dupG	p.Ala others(6): Show p.Ala1623fs	PLEC	ENSG00000178209.17	transcript	ENST00000345136.8	protein_coding	31/32	5003/14804	4867/13644	1623/4547		chr8	TogoVar
PLEC_chr8_143910153_143978529	143925061	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00423.hp2 HG00673.hp1 HG01192.hp1 others(19): Show HG00423.hp2 HG00673.hp1 HG01192.hp1 HG01192.hp2 HG01496.hp2 HG02145.hp2 HG02523.hp1 HG02523.hp2 HG02698.hp1 HG02738.hp1 HG03209.hp1 HG03688.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 NA18982.hp1 NA18994.hp2 NA19007.hp1 NA19057.hp2 NA19080.hp1 NA19084.hp2 NA19091.hp1	a0006 a0009 a0022 others(6): Show a0006 a0009 a0022 a0026 a0037 a0064 a0065 a0077 a0093	a0006c0014 a0006c0034 a0006c0150 others(14): Show a0006c0014 a0006c0034 a0006c0150 a0006c0151 a0006c0152 a0006c0153 a0009c0011 a0009c0055 a0009c0056 a0022c0081 a0022c0085 a0026c0068 a0037c0101 a0064c0155 a0065c0172 a0077c0097 a0093c0038	a0006c0014t0001 a0006c0034t0001 a0006c0150t0002 others(14): Show a0006c0014t0001 a0006c0034t0001 a0006c0150t0002 a0006c0151t0009 a0006c0152t0001 a0006c0153t0001 a0009c0011t0002 a0009c0055t0002 a0009c0056t0002 a0022c0081t0003 a0022c0085t0005 a0026c0068t0001 a0037c0101t0002 a0064c0155t0001 a0065c0172t0001 a0077c0097t0004 a0093c0038t0002	a0006c0014t0001g0007 a0006c0014t0001g0199 a0006c0014t0001g0259 others(19): Show a0006c0014t0001g0007 a0006c0014t0001g0199 a0006c0014t0001g0259 a0006c0034t0001g0058 a0006c0034t0001g0283 a0006c0150t0002g0230 a0006c0151t0009g0201 a0006c0152t0001g0210 a0006c0153t0001g0157 a0009c0011t0002g0028 a0009c0011t0002g0029 a0009c0011t0002g0061 a0009c0055t0002g0050 a0009c0056t0002g0047 a0022c0081t0003g0088 a0022c0085t0005g0089 a0026c0068t0001g0265 a0037c0101t0002g0158 a0064c0155t0001g0282 a0065c0172t0001g0184 a0077c0097t0004g0120 a0093c0038t0002g0073	22	302	0.0729	1	c.482 others(5): Show c.4825dupG	p.Ala others(6): Show p.Ala1609fs	PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding	31/32	4882/14683	4825/13602	1609/4533		chr8	TogoVar
PLEKHB1_chr11_73641581_73667819	73660839	A A	AGGTAAGT others(3): Show AGGTAAGTCTC	frameshift_variant frameshift_variant	HIGH	HG02622.hp2 HG02818.hp1 HG03486.hp1 HG02622.hp2 HG02818.hp1 HG03486.hp1	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0001 a0000c0002t0001	a0000c0002t0001g0036 a0000c0002t0001g0055 a0000c0002t0001g0036 a0000c0002t0001g0055	3	416	0.0072	10	c.582 others(17): Show c.582_583insGGTAAGTCTC	p.Pro others(5): Show p.Pro195fs	PLEKHB1	ENSG00000021300.14	transcript	ENST00000354190.10	protein_coding	7/8	611/1977	583/732	195/243		chr11	TogoVar
PLEKHG2_chr19_39407669_39433415	39425188	C C	CAATGGAG others(10): Show CAATGGAGGTGTGAGCAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18954.hp2 NA18954.hp2	a0019 a0019	a0019c0032 a0019c0032	a0019c0032t0002 a0019c0032t0002	a0019c0032t0002g0006 a0019c0032t0002g0006	1	414	0.0024	17	c.405 others(26): Show c.4055_4056insAATGGAGGTGTGAGCAG	p.Lys others(6): Show p.Lys1353fs	PLEKHG2	ENSG00000090924.15	transcript	ENST00000425673.6	protein_coding	19/19	4822/8048	4056/4161	1352/1386		chr19	TogoVar
PLEKHN1_chr1_961482_980865	971305	CCCACCCC others(19): Show CCCACCCCCACCCACCCAGGAGCAGTG	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp1	a0020 a0020	a0020c0048 a0020c0048	a0020c0048t0001 a0020c0048t0001	a0020c0048t0001g0140 a0020c0048t0001g0140	1	422	0.0024	-26	c.709 others(36): Show c.709-18_716delCCACCCCCACCCACCCAGGAGCAGTG	p.Glu others(5): Show p.Glu237fs	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding	8/16		709/1836	237/611		chr1	TogoVar
PLEKHN1_chr1_961482_980865	972984	GTGGGCTG others(25): Show GTGGGCTGCTCCTCCCAGCACACACCGGTGAGC	G G	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02895.hp1 HG02895.hp1	a0015 a0015	a0015c0041 a0015c0041	a0015c0041t0002 a0015c0041t0002	a0015c0041t0002g0113 a0015c0041t0002g0113	1	422	0.0024	-32	c.112 others(43): Show c.1127_1152+6delTGGGCTGCTCCTCCCAGCACACACCGGTGAGC	p.Val others(5): Show p.Val376fs	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding	11/16	1177/3176	1127/1836	376/611		chr1	TogoVar
PLEKHN1_chr1_961482_980865	974048	GCTTGTGA others(26): Show GCTTGTGAGTAGCAGCCCCCACGCCCGTGTGCCC	G G	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19000.hp2 NA19000.hp2	a0017 a0017	a0017c0043 a0017c0043	a0017c0043t0016 a0017c0043t0016	a0017c0043t0016g0100 a0017c0043t0016g0100	1	422	0.0024	-33	c.165 others(45): Show c.1652_1653+31delTTGTGAGTAGCAGCCCCCACGCCCGTGTGCCCC	p.Leu others(5): Show p.Leu551fs	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding	14/16	1702/3176	1652/1836	551/611	INFO_REALIGN_3_PRIME	chr1	TogoVar
PLET1_chr11_112243153_112265860	112255588	T T	TA TA	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG01243.hp2 HG02451.hp1 HG02615.hp1 others(4): Show HG01243.hp2 HG02451.hp1 HG02615.hp1 HG02809.hp1 HG02809.hp2 HG02976.hp1 HG03579.hp1	a0003 a0003	a0003c0004 a0003c0010 a0003c0004 a0003c0010	a0003c0004t0001 a0003c0010t0001 a0003c0004t0001 a0003c0010t0001	a0003c0004t0001g0023 a0003c0004t0001g0039 a0003c0004t0001g0137 others(1): Show a0003c0004t0001g0023 a0003c0004t0001g0039 a0003c0004t0001g0137 a0003c0010t0001g0136	7	368	0.0190	1	c.185 others(4): Show c.185dupT	p.Phe others(4): Show p.Phe63fs	PLET1	ENSG00000188771.5	transcript	ENST00000338832.4	protein_coding	2/4	456/1541	185/624	62/207		chr11	TogoVar
PLIN4_chr19_4497192_4523486	4510779	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG01192.hp2 HG01891.hp1 HG02055.hp1 others(7): Show HG01192.hp2 HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02258.hp2 HG02572.hp2 HG04184.hp2 NA18963.hp1 NA18993.hp2 NA19090.hp2	a0033 a0046 a0064 others(6): Show a0033 a0046 a0064 a0075 a0078 a0086 a0104 a0107 a0111	a0033c0034 a0046c0165 a0064c0121 others(6): Show a0033c0034 a0046c0165 a0064c0121 a0075c0094 a0078c0088 a0086c0081 a0104c0055 a0107c0067 a0111c0061	a0033c0034t0002 a0033c0034t0003 a0046c0165t0001 others(7): Show a0033c0034t0002 a0033c0034t0003 a0046c0165t0001 a0064c0121t0001 a0075c0094t0003 a0078c0088t0002 a0086c0081t0015 a0104c0055t0008 a0107c0067t0004 a0111c0061t0035	a0033c0034t0002g0208 a0033c0034t0003g0207 a0046c0165t0001g0071 others(7): Show a0033c0034t0002g0208 a0033c0034t0003g0207 a0046c0165t0001g0071 a0064c0121t0001g0238 a0075c0094t0003g0188 a0078c0088t0002g0181 a0086c0081t0015g0115 a0104c0055t0008g0059 a0107c0067t0004g0083 a0111c0061t0035g0079	10	412	0.0243	1	c.318 others(5): Show c.3180dupC	p.Ala others(6): Show p.Ala1061fs	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/8	3299/6502	3180/4116	1060/1371		chr19	TogoVar
PLP2_chrX_49166898_49180235	49171998	G G	GC GC	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	NA19062.hp1 NA19062.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0024 a0003c0002t0002g0024	1	260	0.0039	1	c.-1d others(3): Show c.-1dupC	p.Met others(3): Show p.Met1fs	PLP2	ENSG00000102007.11	transcript	ENST00000376327.6	protein_coding	1/5	104/1103	1/459	1/152	INFO_REALIGN_3_PRIME	chrX	TogoVar
PLP2_chrX_49166898_49180235	49173468	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA19062.hp1 NA19062.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0024 a0003c0002t0002g0024	1	260	0.0039	1	c.334 others(4): Show c.334dupA	p.Ile others(5): Show p.Ile112fs	PLP2	ENSG00000102007.11	transcript	ENST00000376327.6	protein_coding	3/5	438/1103	335/459	112/152	INFO_REALIGN_3_PRIME	chrX	TogoVar
PLPP7_chr9_131284723_131314261	131307988	G G	GACCGCTA others(3): Show GACCGCTATCT	frameshift_variant frameshift_variant	HIGH	NA19079.hp1 NA19079.hp1	a0000 a0000	a0000c0007 a0000c0007	a0000c0007t0001 a0000c0007t0001	a0000c0007t0001g0288 a0000c0007t0001g0288	1	444	0.0023	10	c.518 others(17): Show c.518_519insCCGCTATCTA	p.Glu others(5): Show p.Glu173fs	PLPP7	ENSG00000160539.6	transcript	ENST00000372264.4	protein_coding	2/2	794/2065	519/816	173/271	INFO_REALIGN_3_PRIME	chr9	TogoVar
PLPPR3_chr19_807488_826955	813259	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00597.hp1 HG00597.hp2 HG01099.hp1 others(16): Show HG00597.hp1 HG00597.hp2 HG01099.hp1 HG01099.hp2 HG01175.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02738.hp1 HG02970.hp1 HG03688.hp1 HG03831.hp1 HG04184.hp2 NA18940.hp1 NA18998.hp1 NA19005.hp2 NA19010.hp1 NA19060.hp1 NA19067.hp1	a0000 a0000	a0000c0007 a0000c0019 a0000c0020 others(5): Show a0000c0007 a0000c0019 a0000c0020 a0000c0027 a0000c0028 a0000c0033 a0000c0037 a0000c0041	a0000c0007t0001 a0000c0007t0002 a0000c0019t0001 others(6): Show a0000c0007t0001 a0000c0007t0002 a0000c0019t0001 a0000c0020t0001 a0000c0027t0001 a0000c0028t0001 a0000c0033t0001 a0000c0037t0001 a0000c0041t0001	a0000c0007t0001g0015 a0000c0007t0001g0025 a0000c0007t0001g0063 others(11): Show a0000c0007t0001g0015 a0000c0007t0001g0025 a0000c0007t0001g0063 a0000c0007t0001g0120 a0000c0007t0001g0125 a0000c0007t0001g0132 a0000c0007t0002g0072 a0000c0019t0001g0168 a0000c0020t0001g0165 a0000c0027t0001g0146 a0000c0028t0001g0175 a0000c0033t0001g0158 a0000c0037t0001g0075 a0000c0041t0001g0081	19	398	0.0477	1	c.146 others(5): Show c.1467dupG	p.Pro others(5): Show p.Pro490fs	PLPPR3	ENSG00000129951.19	transcript	ENST00000520876.8	protein_coding	8/8	1534/2306	1467/2157	489/718		chr19	TogoVar
PLPPR3_chr19_807488_826955	813562	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00544.hp1 HG01175.hp1 HG01934.hp1 others(4): Show HG00544.hp1 HG01175.hp1 HG01934.hp1 HG02080.hp2 NA18947.hp2 NA18952.hp2 NA19000.hp2	a0000 a0000	a0000c0009 a0000c0009	a0000c0009t0001 a0000c0009t0002 a0000c0009t0001 a0000c0009t0002	a0000c0009t0001g0024 a0000c0009t0001g0068 a0000c0009t0001g0119 others(2): Show a0000c0009t0001g0024 a0000c0009t0001g0068 a0000c0009t0001g0119 a0000c0009t0001g0124 a0000c0009t0002g0131	7	398	0.0176	1	c.116 others(5): Show c.1164dupC	p.Ala others(5): Show p.Ala389fs	PLPPR3	ENSG00000129951.19	transcript	ENST00000520876.8	protein_coding	8/8	1231/2306	1164/2157	388/718		chr19	TogoVar
PLXNA1_chr3_126978115_127042389	127033974	GCAAGCTG others(4): Show GCAAGCTGGAGC	G G	frameshift_variant frameshift_variant	HIGH	NA19057.hp2 NA19057.hp2	a0000 a0000	a0000c0028 a0000c0028	a0000c0028t0034 a0000c0028t0034	a0000c0028t0034g0052 a0000c0028t0034g0052	1	346	0.0029	-11	c.564 others(20): Show c.5649_5659delCAAGCTGGAGC	p.Ser others(6): Show p.Ser1883fs	PLXNA1	ENSG00000114554.12	transcript	ENST00000393409.3	protein_coding	32/32	5895/9309	5649/5691	1883/1896		chr3	TogoVar
PLXNA3_chrX_154453281_154482779	154460224	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG01099.hp1 HG01099.hp1	a0025 a0025	a0025c0045 a0025c0045	a0025c0045t0004 a0025c0045t0004	a0025c0045t0004g0050 a0025c0045t0004g0050	1	262	0.0038	1	c.49d others(3): Show c.49dupG	p.Ala others(4): Show p.Ala17fs	PLXNA3	ENSG00000130827.6	transcript	ENST00000369682.4	protein_coding	2/33	225/10885	50/5616	17/1871	INFO_REALIGN_3_PRIME	chrX	TogoVar
PLXNA3_chrX_154453281_154482779	154460301	CG CG	C C	frameshift_variant frameshift_variant	HIGH	NA19086.hp1 NA19086.hp1	a0006 a0006	a0006c0044 a0006c0044	a0006c0044t0086 a0006c0044t0086	a0006c0044t0086g0001 a0006c0044t0086g0001	1	262	0.0038	-1	c.121 others(4): Show c.121delG	p.Val others(4): Show p.Val41fs	PLXNA3	ENSG00000130827.6	transcript	ENST00000369682.4	protein_coding	2/33	296/10885	121/5616	41/1871	INFO_REALIGN_3_PRIME	chrX	TogoVar
PLXNA3_chrX_154453281_154482779	154460386	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA18967.hp1 NA18967.hp1	a0007 a0007	a0007c0042 a0007c0042	a0007c0042t0004 a0007c0042t0004	a0007c0042t0004g0001 a0007c0042t0004g0001	1	262	0.0038	1	c.207 others(4): Show c.207dupG	p.Pro others(4): Show p.Pro70fs	PLXNA3	ENSG00000130827.6	transcript	ENST00000369682.4	protein_coding	2/33	383/10885	208/5616	70/1871	INFO_REALIGN_3_PRIME	chrX	TogoVar
PLXNA3_chrX_154453281_154482779	154460420	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG02970.hp2 NA19090.hp2 HG02970.hp2 NA19090.hp2	a0003 a0003	a0003c0039 a0003c0040 a0003c0039 a0003c0040	a0003c0039t0012 a0003c0040t0006 a0003c0039t0012 a0003c0040t0006	a0003c0039t0012g0093 a0003c0040t0006g0079 a0003c0039t0012g0093 a0003c0040t0006g0079	2	262	0.0076	1	c.243 others(4): Show c.243dupC	p.Ser others(4): Show p.Ser82fs	PLXNA3	ENSG00000130827.6	transcript	ENST00000369682.4	protein_coding	2/33	419/10885	244/5616	82/1871	INFO_REALIGN_3_PRIME	chrX	TogoVar
PLXNA3_chrX_154453281_154482779	154460730	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19083.hp1 NA19083.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0080 a0010c0013t0080	a0010c0013t0080g0092 a0010c0013t0080g0092	1	262	0.0038	1	c.550 others(4): Show c.550dupC	p.Arg others(5): Show p.Arg184fs	PLXNA3	ENSG00000130827.6	transcript	ENST00000369682.4	protein_coding	2/33	726/10885	551/5616	184/1871	INFO_REALIGN_3_PRIME	chrX	TogoVar
PLXNA3_chrX_154453281_154482779	154461227	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19083.hp1 NA19083.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0080 a0010c0013t0080	a0010c0013t0080g0092 a0010c0013t0080g0092	1	262	0.0038	1	c.724 others(4): Show c.724dupC	p.Gln others(5): Show p.Gln242fs	PLXNA3	ENSG00000130827.6	transcript	ENST00000369682.4	protein_coding	3/33	900/10885	725/5616	242/1871	INFO_REALIGN_3_PRIME	chrX	TogoVar
PLXNA3_chrX_154453281_154482779	154461517	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19083.hp1 NA19083.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0080 a0010c0013t0080	a0010c0013t0080g0092 a0010c0013t0080g0092	1	262	0.0038	1	c.101 others(5): Show c.1015dupC	p.Leu others(5): Show p.Leu339fs	PLXNA3	ENSG00000130827.6	transcript	ENST00000369682.4	protein_coding	3/33	1191/10885	1016/5616	339/1871	INFO_REALIGN_3_PRIME	chrX	TogoVar
PLXNA3_chrX_154453281_154482779	154463434	T T	TCC TCC	frameshift_variant frameshift_variant	HIGH	NA19083.hp1 NA19083.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0080 a0010c0013t0080	a0010c0013t0080g0092 a0010c0013t0080g0092	1	262	0.0038	2	c.136 others(11): Show c.1364_1365dupCC	p.Val others(5): Show p.Val456fs	PLXNA3	ENSG00000130827.6	transcript	ENST00000369682.4	protein_coding	5/33	1541/10885	1366/5616	456/1871	INFO_REALIGN_3_PRIME	chrX	TogoVar
PLXNA3_chrX_154453281_154482779	154463670	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19083.hp1 NA19083.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0080 a0010c0013t0080	a0010c0013t0080g0092 a0010c0013t0080g0092	1	262	0.0038	1	c.152 others(10): Show c.1527_1528insC	p.Trp others(5): Show p.Trp510fs	PLXNA3	ENSG00000130827.6	transcript	ENST00000369682.4	protein_coding	6/33	1703/10885	1528/5616	510/1871		chrX	TogoVar
PLXNA3_chrX_154453281_154482779	154464212	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19083.hp1 NA19083.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0080 a0010c0013t0080	a0010c0013t0080g0092 a0010c0013t0080g0092	1	262	0.0038	1	c.172 others(5): Show c.1728dupC	p.Glu others(5): Show p.Glu577fs	PLXNA3	ENSG00000130827.6	transcript	ENST00000369682.4	protein_coding	8/33	1904/10885	1729/5616	577/1871	INFO_REALIGN_3_PRIME	chrX	TogoVar
PLXNA3_chrX_154453281_154482779	154464224	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19083.hp1 NA19083.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0080 a0010c0013t0080	a0010c0013t0080g0092 a0010c0013t0080g0092	1	262	0.0038	1	c.174 others(5): Show c.1741dupG	p.Glu others(5): Show p.Glu581fs	PLXNA3	ENSG00000130827.6	transcript	ENST00000369682.4	protein_coding	8/33	1917/10885	1742/5616	581/1871	INFO_REALIGN_3_PRIME	chrX	TogoVar
PLXNA3_chrX_154453281_154482779	154464256	G G	GA GA	frameshift_variant frameshift_variant	HIGH	NA19083.hp1 NA19083.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0080 a0010c0013t0080	a0010c0013t0080g0092 a0010c0013t0080g0092	1	262	0.0038	1	c.177 others(5): Show c.1773dupA	p.Leu others(5): Show p.Leu592fs	PLXNA3	ENSG00000130827.6	transcript	ENST00000369682.4	protein_coding	8/33	1949/10885	1774/5616	592/1871	INFO_REALIGN_3_PRIME	chrX	TogoVar
PLXNA3_chrX_154453281_154482779	154464277	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA19083.hp1 NA19083.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0080 a0010c0013t0080	a0010c0013t0080g0092 a0010c0013t0080g0092	1	262	0.0038	-1	c.179 others(5): Show c.1795delC	p.Leu others(5): Show p.Leu599fs	PLXNA3	ENSG00000130827.6	transcript	ENST00000369682.4	protein_coding	8/33	1970/10885	1795/5616	599/1871	INFO_REALIGN_3_PRIME	chrX	TogoVar
PLXNA3_chrX_154453281_154482779	154465427	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA18986.hp1 NA18986.hp1	a0013 a0013	a0013c0030 a0013c0030	a0013c0030t0094 a0013c0030t0094	a0013c0030t0094g0054 a0013c0030t0094g0054	1	262	0.0038	-1	c.225 others(5): Show c.2250delC	p.Tyr others(5): Show p.Tyr751fs	PLXNA3	ENSG00000130827.6	transcript	ENST00000369682.4	protein_coding	12/33	2425/10885	2250/5616	750/1871	INFO_REALIGN_3_PRIME	chrX	TogoVar
PLXNA3_chrX_154453281_154482779	154466751	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA19083.hp1 NA19083.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0080 a0010c0013t0080	a0010c0013t0080g0092 a0010c0013t0080g0092	1	262	0.0038	1	c.306 others(5): Show c.3069dupC	p.Thr others(6): Show p.Thr1024fs	PLXNA3	ENSG00000130827.6	transcript	ENST00000369682.4	protein_coding	17/33	3245/10885	3070/5616	1024/1871	INFO_REALIGN_3_PRIME	chrX	TogoVar

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