Joint Open Genome and Omics Platform (JoGo)

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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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	distance	status	chr	external
PLCH1_chr3_155474881_155750071	155737231	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02109.hp1 HG02280.hp1 others(1): Show HG00558.hp1 HG02109.hp1 HG02280.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0001t0001 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0002t0001g0009 others(1): Show a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0002t0001g0009 a0001c0004t0001g0012	4	264	0.0152	17	c.-41 others(34): Show c.-41+7592_-41+7608dupTTTTTTTTTTTTTTTTT		PLCH1	ENSG00000114805.18	transcript	ENST00000460012.7	protein_coding	1/22						chr3	TogoVar
PLCH1_chr3_155474881_155750071	155741684	C C	CTTTTATT others(10): Show CTTTTATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0073 a0002c0006t0001g0073	1	264	0.0038	17	c.-41 others(34): Show c.-41+3155_-41+3156insAAAAAAAAAAAATAAAA		PLCH1	ENSG00000114805.18	transcript	ENST00000460012.7	protein_coding	1/22						chr3	TogoVar
PLCH1_chr3_155474881_155750071	155741684	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp2 HG02572.hp1 others(4): Show HG02258.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG03225.hp1 HG03516.hp2 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0007 a0001c0001 a0001c0003 a0003c0007	a0001c0001t0001 a0001c0003t0001 a0003c0007t0004 a0001c0001t0001 a0001c0003t0001 a0003c0007t0004	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(4): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0003t0001g0262 a0001c0003t0001g0263 a0003c0007t0004g0039	7	264	0.0265	17	c.-41 others(34): Show c.-41+3139_-41+3155dupAAAAAAAAAAAAAAAAA		PLCH1	ENSG00000114805.18	transcript	ENST00000460012.7	protein_coding	1/22						chr3	TogoVar
PLCL1_chr2_197799593_198154863	197866074	A A	ATATATAT others(10): Show ATATATATATATATAAAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01358.hp1 HG02165.hp1 others(1): Show HG01255.hp2 HG01358.hp1 HG02165.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0012 a0001c0001t0041 a0001c0001t0007 a0001c0001t0012 a0001c0001t0041	a0001c0001t0007g0180 a0001c0001t0012g0168 a0001c0001t0012g0181 others(1): Show a0001c0001t0007g0180 a0001c0001t0012g0168 a0001c0001t0012g0181 a0001c0001t0041g0157	4	204	0.0196	17	c.240 others(36): Show c.240+60852_240+60868dupAACTATATATATATATA		PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCL2_chr3_16879955_17095604	16904306	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	250	0.0040	17	c.327 others(36): Show c.327+18951_327+18952insAAAAAAAAAAAAAAAAA		PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCL2_chr3_16879955_17095604	17047381	A A	AGCGTCGT others(10): Show AGCGTCGTTCCTCTTCTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(167): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00741.hp2 HG01069.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01346.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18966.hp1 NA18973.hp1 NA18973.hp2 NA18986.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18995.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0000 a0001	a0000c0007 a0000c0019 a0001c0001 others(13): Show a0000c0007 a0000c0019 a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0018 a0001c0020 a0001c0021	a0000c0007t0002 a0000c0019t0002 a0001c0001t0001 others(18): Show a0000c0007t0002 a0000c0019t0002 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0006t0001 a0001c0008t0001 a0001c0011t0001 a0001c0012t0001 a0001c0013t0001 a0001c0014t0001 a0001c0018t0005 a0001c0020t0003 a0001c0021t0001	a0000c0007t0002g0146 a0000c0007t0002g0147 a0000c0007t0002g0213 others(165): Show a0000c0007t0002g0146 a0000c0007t0002g0147 a0000c0007t0002g0213 a0000c0019t0002g0148 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0053 a0001c0001t0001g0067 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0139 a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0151 a0001c0001t0002g0156 a0001c0001t0002g0159 a0001c0001t0002g0204 a0001c0001t0006g0222 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0066 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0223 a0001c0003t0001g0003 a0001c0003t0001g0018 a0001c0003t0001g0030 a0001c0003t0001g0044 a0001c0003t0001g0094 a0001c0003t0001g0106 a0001c0003t0001g0116 a0001c0003t0001g0180 a0001c0003t0001g0181 a0001c0003t0001g0184 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0190 a0001c0003t0001g0191 a0001c0003t0001g0192 a0001c0003t0001g0193 a0001c0003t0001g0194 a0001c0003t0001g0196 a0001c0003t0001g0211 a0001c0003t0001g0235 a0001c0003t0001g0248 a0001c0003t0003g0209 a0001c0003t0003g0215 a0001c0003t0003g0216 a0001c0003t0003g0231 a0001c0003t0003g0232 a0001c0003t0004g0001 a0001c0003t0004g0128 a0001c0003t0004g0152 a0001c0003t0004g0153 a0001c0004t0001g0002 a0001c0004t0001g0162 a0001c0004t0001g0163 a0001c0004t0001g0164 a0001c0004t0001g0165 a0001c0004t0001g0166 a0001c0004t0001g0167 a0001c0004t0001g0168 a0001c0004t0001g0169 a0001c0004t0001g0176 a0001c0004t0002g0171 a0001c0004t0002g0172 a0001c0004t0002g0173 a0001c0004t0002g0175 a0001c0005t0001g0019 a0001c0005t0001g0063 a0001c0005t0001g0179 a0001c0005t0001g0185 a0001c0006t0001g0160 a0001c0006t0001g0161 a0001c0006t0001g0170 a0001c0006t0001g0174 a0001c0008t0001g0123 a0001c0008t0001g0242 a0001c0011t0001g0004 a0001c0012t0001g0005 a0001c0013t0001g0198 a0001c0014t0001g0104 a0001c0018t0005g0029 a0001c0020t0003g0178 a0001c0021t0001g0177	170	250	0.6800	17	c.309 others(36): Show c.3094+4434_3094+4435insGTCGTTCCTCTTCTGGC		PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCXD3_chr5_41301952_41515601	41403394	A A	ATTTGTTT others(10): Show ATTTGTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0097 a0001c0001t0011g0097	1	244	0.0041	17	c.104 others(36): Show c.104-20861_104-20860insAAAAAAAAAAAAACAAA		PLCXD3	ENSG00000182836.11	transcript	ENST00000377801.8	protein_coding	1/2						chr5	TogoVar
PLCXD3_chr5_41301952_41515601	41403408	T T	TTGTTTTG others(10): Show TTGTTTTGTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0100 a0001c0001t0060g0100	1	244	0.0041	17	c.104 others(36): Show c.104-20875_104-20874insTAAAAAAAAACAAAACA		PLCXD3	ENSG00000182836.11	transcript	ENST00000377801.8	protein_coding	1/2						chr5	TogoVar
PLCXD3_chr5_41301952_41515601	41403408	T T	TTTTTTTG others(10): Show TTTTTTTGTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0113 a0001c0001t0030g0113	1	244	0.0041	17	c.104 others(36): Show c.104-20875_104-20874insTAAAAAAAAACAAAAAA		PLCXD3	ENSG00000182836.11	transcript	ENST00000377801.8	protein_coding	1/2						chr5	TogoVar
PLCXD3_chr5_41301952_41515601	41440215	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA20300.hp2 HG01884.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0036 a0001c0001t0035 a0001c0001t0036	a0001c0001t0035g0236 a0001c0001t0036g0239 a0001c0001t0035g0236 a0001c0001t0036g0239	2	244	0.0082	17	c.104 others(36): Show c.104-57698_104-57682dupAAAAAAAAAAAAAAAAA		PLCXD3	ENSG00000182836.11	transcript	ENST00000377801.8	protein_coding	1/2						chr5	TogoVar
PLCXD3_chr5_41301952_41515601	41440249	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0055 a0001c0001t0004g0055	1	244	0.0041	17	c.104 others(36): Show c.104-57716_104-57715insCAAAAAAAAAAAAAAAA		PLCXD3	ENSG00000182836.11	transcript	ENST00000377801.8	protein_coding	1/2						chr5	TogoVar
PLD1_chr3_171595404_171815483	171710872	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0011 a0006c0014t0011	a0006c0014t0011g0117 a0006c0014t0011g0117	1	294	0.0034	17	c.912 others(34): Show c.912-1180_912-1164dupAAAAAAAAAAAAAAAAA		PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	9/26						chr3	TogoVar
PLD1_chr3_171595404_171815483	171764870	A A	AGGAAGGA others(10): Show AGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03225.hp1 HG00280.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0014 a0001c0002t0002g0266 a0001c0001t0001g0014 a0001c0002t0002g0266	2	294	0.0068	17	c.-31 others(36): Show c.-31-26789_-31-26788insCTTCCTTCCTTCCTTCC		PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26						chr3	TogoVar
PLD1_chr3_171595404_171815483	171764874	A A	AGGAAGGA others(10): Show AGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	294	0.0034	17	c.-31 others(36): Show c.-31-26793_-31-26792insCTTCCTTCCTTCCTTCC		PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26						chr3	TogoVar
PLD1_chr3_171595404_171815483	171770888	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03130.hp1 HG02896.hp2 HG03130.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0014 a0001c0002 a0006c0014	a0001c0002t0007 a0006c0014t0011 a0001c0002t0007 a0006c0014t0011	a0001c0002t0007g0284 a0006c0014t0011g0180 a0001c0002t0007g0284 a0006c0014t0011g0180	2	294	0.0068	17	c.-31 others(36): Show c.-31-32823_-31-32807dupTTTTTTTTTTTTTTTTT		PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26						chr3	TogoVar
PLD1_chr3_171595404_171815483	171808815	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02615.hp1 HG01106.hp2 HG02615.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0003 a0001c0001t0001 a0002c0003t0003	a0001c0001t0001g0262 a0002c0003t0003g0261 a0001c0001t0001g0262 a0002c0003t0003g0261	2	294	0.0068	17	c.-32 others(34): Show c.-32+1567_-32+1583dupAAAAAAAAAAAAAAAAA		PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26						chr3	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
PLD5_chr1_242077986_242529697	242164879	T T	TTTATGAG others(10): Show TTTATGAGTTTCCTGCTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02572.hp2 HG02622.hp2 others(6): Show HG00438.hp2 HG02572.hp2 HG02622.hp2 HG02886.hp1 HG03041.hp2 HG03209.hp1 HG04184.hp2 NA18944.hp2 NA18945.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0028 a0001c0001t0041 others(6): Show a0001c0001t0001 a0001c0001t0028 a0001c0001t0041 a0001c0002t0009 a0001c0002t0060 a0001c0002t0065 a0001c0002t0071 a0001c0002t0073 a0003c0004t0032	a0001c0001t0001g0070 a0001c0001t0028g0028 a0001c0001t0041g0008 others(6): Show a0001c0001t0001g0070 a0001c0001t0028g0028 a0001c0001t0041g0008 a0001c0002t0009g0177 a0001c0002t0060g0136 a0001c0002t0065g0132 a0001c0002t0071g0173 a0001c0002t0073g0168 a0003c0004t0032g0055	9	188	0.0479	17	c.736 others(36): Show c.736-40231_736-40215dupCAGCAGGAAACTCATAA		PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	5/9						chr1	TogoVar
PLD5_chr1_242077986_242529697	242168846	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0060 a0001c0002t0060	a0001c0002t0060g0136 a0001c0002t0060g0136	1	188	0.0053	17	c.736 others(36): Show c.736-44198_736-44182dupAAAAAAAAAAAAAAAAA		PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	5/9						chr1	TogoVar
PLD5_chr1_242077986_242529697	242404875	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02559.hp1 HG02896.hp2 others(3): Show HG02135.hp2 HG02559.hp1 HG02896.hp2 HG02922.hp1 HG03225.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0026 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0026 a0001c0002t0022 a0001c0002t0067	a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0002g0068 others(3): Show a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0002g0068 a0001c0001t0026g0065 a0001c0002t0022g0148 a0001c0002t0067g0149	6	188	0.0319	17	c.190 others(36): Show c.190-56650_190-56634dupAAAAAAAAAAAAAAAAA		PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9						chr1	TogoVar
PLEC_chr8_143910153_143944597	143933987	C C	CCGACTGC others(10): Show CCGACTGCTGCCTCACCG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02572.hp1 HG02723.hp2 others(8): Show HG02486.hp2 HG02572.hp1 HG02723.hp2 HG02818.hp2 HG03041.hp1 HG03098.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 NA20300.hp2	a0007 a0021 a0084 others(3): Show a0007 a0021 a0084 a0085 a0086 a0087	a0007c0021 a0007c0086 a0007c0185 others(5): Show a0007c0021 a0007c0086 a0007c0185 a0021c0036 a0084c0189 a0085c0188 a0086c0186 a0087c0187	a0007c0021t0006 a0007c0086t0006 a0007c0185t0006 others(5): Show a0007c0021t0006 a0007c0086t0006 a0007c0185t0006 a0021c0036t0001 a0084c0189t0006 a0085c0188t0006 a0086c0186t0006 a0087c0187t0006	a0007c0021t0006g0253 a0007c0021t0006g0257 a0007c0021t0006g0258 others(7): Show a0007c0021t0006g0253 a0007c0021t0006g0257 a0007c0021t0006g0258 a0007c0086t0006g0252 a0007c0185t0006g0259 a0021c0036t0001g0041 a0084c0189t0006g0263 a0085c0188t0006g0256 a0086c0186t0006g0254 a0087c0187t0006g0255	11	358	0.0307	17	c.126 others(32): Show c.1263+10_1263+11insCGGTGAGGCAGCAGTCG		PLEC	ENSG00000178209.17	transcript	ENST00000345136.8	protein_coding	12/31						chr8	TogoVar
PLEC_chr8_143910153_143978529	143933987	C C	CCGACTGC others(10): Show CCGACTGCTGCCTCACCG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02572.hp1 HG02723.hp2 others(6): Show HG02486.hp2 HG02572.hp1 HG02723.hp2 HG02818.hp2 HG03041.hp1 HG03098.hp1 HG03540.hp1 HG03540.hp2 NA20300.hp2	a0007 a0019 a0078 others(2): Show a0007 a0019 a0078 a0079 a0080	a0007c0016 a0007c0075 a0019c0033 others(3): Show a0007c0016 a0007c0075 a0019c0033 a0078c0163 a0079c0162 a0080c0161	a0007c0016t0006 a0007c0075t0006 a0019c0033t0001 others(3): Show a0007c0016t0006 a0007c0075t0006 a0019c0033t0001 a0078c0163t0006 a0079c0162t0006 a0080c0161t0006	a0007c0016t0006g0085 a0007c0016t0006g0086 a0007c0016t0006g0296 others(6): Show a0007c0016t0006g0085 a0007c0016t0006g0086 a0007c0016t0006g0296 a0007c0075t0006g0087 a0019c0033t0001g0083 a0019c0033t0001g0084 a0078c0163t0006g0098 a0079c0162t0006g0101 a0080c0161t0006g0102	9	302	0.0298	17	c.122 others(32): Show c.1221+10_1221+11insCGGTGAGGCAGCAGTCG		PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding	12/31						chr8	TogoVar
PLEKHA2_chr8_38896346_38978912	38933790	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0117 a0001c0001t0013g0117	1	376	0.0027	17	c.142 others(34): Show c.142-2200_142-2199insAAAAAAAAAAAAGAAAA		PLEKHA2	ENSG00000169499.15	transcript	ENST00000617275.5	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr8	TogoVar
PLEKHA2_chr8_38896346_38978912	38937952	T T	TGTGTTCT others(10): Show TGTGTTCTGGAGGGCCTA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0362 a0001c0001t0002g0362	1	376	0.0027	17	c.198 others(34): Show c.198+1903_198+1904insTGTTCTGGAGGGCCTAG		PLEKHA2	ENSG00000169499.15	transcript	ENST00000617275.5	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr8	TogoVar
PLEKHA3_chr2_178475457_178521463	178507658	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0191 a0001c0002t0191	a0001c0002t0191g0045 a0001c0002t0191g0045	1	382	0.0026	17	c.37 others(28): Show c.3791_*3807dupTTTTTTTTTTTTTTTTT		PLEKHA3	ENSG00000116095.11	transcript	ENST00000234453.10	protein_coding	8/8				3808	INFO_REALIGN_3_PRIME	chr2	TogoVar
PLEKHA4_chr19_48832097_48873617	48858627	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03486.hp2 NA19043.hp1 HG03453.hp1 HG03486.hp2 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003	a0002c0002t0001g0227 a0002c0002t0002g0021 a0002c0002t0003g0236 a0002c0002t0001g0227 a0002c0002t0002g0021 a0002c0002t0003g0236	3	300	0.0100	17	c.972 others(32): Show c.972+216_972+232dupTTTTTTTTTTTTTTTTT		PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding	8/19						chr19	TogoVar
PLEKHA5_chr12_19124733_19381400	19167405	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0306 a0001c0001t0007g0306	1	316	0.0032	17	c.227 others(36): Show c.227+34968_227+34984dupTTTTTTTTTTTTTTTTT		PLEKHA5	ENSG00000052126.17	transcript	ENST00000429027.7	protein_coding	3/31					INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHA5_chr12_19124733_19381400	19173005	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA19240.hp1 HG02055.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0150 a0001c0001t0006g0151 a0001c0001t0006g0150 a0001c0001t0006g0151	2	316	0.0063	17	c.227 others(36): Show c.227+40568_227+40584dupTTTTTTTTTTTTTTTTT		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(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0066 a0001c0001t0010g0066	1	316	0.0032	17	c.228 others(32): Show c.228-866_228-850dupTTTTTTTTTTTTTTTTT		PLEKHA5	ENSG00000052126.17	transcript	ENST00000429027.7	protein_coding	3/31					INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHA5_chr12_19124733_19381400	19303184	A A	AGTGCTGG others(10): Show AGTGCTGGAATTACAGGC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp1 HG01243.hp2 others(44): Show HG00558.hp1 HG00621.hp1 HG01243.hp2 HG01934.hp2 HG02015.hp1 HG02027.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02155.hp1 HG02523.hp1 HG02630.hp1 HG02723.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03654.hp2 HG03669.hp1 HG03831.hp2 NA18522.hp1 NA18612.hp2 NA18939.hp1 NA18944.hp1 NA18956.hp1 NA18957.hp1 NA18963.hp1 NA18966.hp1 NA18977.hp1 NA18979.hp2 NA18993.hp1 NA18994.hp1 NA18999.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19062.hp1 NA19074.hp2 NA19080.hp2 NA19081.hp2 NA20300.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0010 a0003c0007 others(1): Show a0001c0001 a0001c0010 a0003c0007 a0007c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0010t0001 a0003c0007t0003 a0007c0013t0014	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0229 others(44): Show a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0229 a0001c0001t0001g0258 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0046 a0001c0001t0003g0048 a0001c0001t0003g0139 a0001c0001t0003g0155 a0001c0001t0003g0162 a0001c0001t0003g0195 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0005g0104 a0001c0001t0005g0121 a0001c0001t0005g0145 a0001c0001t0009g0260 a0001c0001t0009g0263 a0001c0001t0010g0044 a0001c0001t0010g0045 a0001c0001t0018g0033 a0001c0001t0020g0037 a0001c0001t0021g0035 a0001c0010t0001g0215 a0003c0007t0003g0026 a0007c0013t0014g0050	47	316	0.1487	17	c.203 others(38): Show c.2037+11490_2037+11491insCTGGAATTACAGGCGTG		PLEKHA5	ENSG00000052126.17	transcript	ENST00000429027.7	protein_coding	15/31					INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHA5_chr12_19124733_19381400	19334829	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	316	0.0032	17	c.244 others(36): Show c.2449-1685_2449-1684insAAAAAAAAAAAAATATA		PLEKHA5	ENSG00000052126.17	transcript	ENST00000429027.7	protein_coding	20/31					INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHA5_chr12_19124733_19381400	19334829	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01928.hp1 HG01109.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0134 a0001c0001t0009g0206 a0001c0001t0002g0134 a0001c0001t0009g0206	2	316	0.0063	17	c.244 others(36): Show c.2449-1685_2449-1684insAAAAAAAAATATATATA		PLEKHA5	ENSG00000052126.17	transcript	ENST00000429027.7	protein_coding	20/31					INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHA5_chr12_19124733_19381400	19334829	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0089 a0001c0014t0002g0089	1	316	0.0032	17	c.244 others(36): Show c.2449-1685_2449-1684insAAAAAAATATATATATA		PLEKHA5	ENSG00000052126.17	transcript	ENST00000429027.7	protein_coding	20/31					INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHA6_chr1_204213853_204364929	204222049	T T	TCTCTCTC others(10): Show TCTCTCTCTCTCTCTCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp1 HG03098.hp2 HG00741.hp1 HG03098.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0060 a0004c0004t0061 a0001c0001t0060 a0004c0004t0061	a0001c0001t0060g0131 a0004c0004t0061g0029 a0001c0001t0060g0131 a0004c0004t0061g0029	2	270	0.0074	17	c.73 others(26): Show c.738_*739insGAGAGAGAGAGAGAGAG		PLEKHA6	ENSG00000143850.16	transcript	ENST00000272203.8	protein_coding	23/23				1420		chr1	TogoVar
PLEKHA7_chr11_16772297_17019414	16887309	C C	CTCTCCCT others(10): Show CTCTCCCTCTCCCCACGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02630.hp1 HG02896.hp2 others(3): Show HG00639.hp1 HG02630.hp1 HG02896.hp2 HG02897.hp1 NA18522.hp1 NA19043.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0009 a0001c0028 others(2): Show a0001c0001 a0001c0009 a0001c0028 a0001c0030 a0007c0020	a0001c0001t0001 a0001c0009t0001 a0001c0028t0006 others(2): Show a0001c0001t0001 a0001c0009t0001 a0001c0028t0006 a0001c0030t0003 a0007c0020t0003	a0001c0001t0001g0130 a0001c0009t0001g0100 a0001c0028t0006g0075 others(3): Show a0001c0001t0001g0130 a0001c0009t0001g0100 a0001c0028t0006g0075 a0001c0030t0003g0026 a0007c0020t0003g0217 a0007c0020t0003g0221	6	244	0.0246	17	c.222 others(36): Show c.222-16128_222-16127insCCGTGGGGAGAGGGAGA		PLEKHA7	ENSG00000166689.18	transcript	ENST00000531066.6	protein_coding	3/26						chr11	TogoVar
PLEKHA7_chr11_16772297_17019414	16892435	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0001 a0001c0040t0001	a0001c0040t0001g0167 a0001c0040t0001g0167	1	244	0.0041	17	c.222 others(36): Show c.222-21254_222-21253insCACACACACACACACAC		PLEKHA7	ENSG00000166689.18	transcript	ENST00000531066.6	protein_coding	3/26						chr11	TogoVar
PLEKHG1_chr6_150594885_150848665	150674682	T T	TCTCTCTC others(10): Show TCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0115	1	272	0.0037	17	c.-99 others(36): Show c.-99+23897_-99+23898insTCTCTCTCTCTCTCTCC		PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG1_chr6_150594885_150848665	150763024	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG06807.hp2 HG03195.hp2 HG06807.hp2	a0001 a0018 a0001 a0018	a0001c0017 a0018c0057 a0001c0017 a0018c0057	a0001c0017t0001 a0018c0057t0001 a0001c0017t0001 a0018c0057t0001	a0001c0017t0001g0228 a0018c0057t0001g0227 a0001c0017t0001g0228 a0018c0057t0001g0227	2	272	0.0074	17	c.412 others(34): Show c.412-5610_412-5594dupTTTTTTTTTTTTTTTTT		PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG1_chr6_150594885_150848665	150804175	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0092 a0001c0006t0001g0092	1	272	0.0037	17	c.781 others(32): Show c.781-434_781-433insATATATATATATATTTT		PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	7/16					INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG1_chr6_150594885_150848665	150844889	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00738.hp1 HG01069.hp2 others(3): Show HG00280.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG02895.hp2	a0001 a0006 a0001 a0006	a0001c0007 a0001c0043 a0006c0024 others(1): Show a0001c0007 a0001c0043 a0006c0024 a0006c0039	a0001c0007t0003 a0001c0043t0001 a0006c0024t0009 others(1): Show a0001c0007t0003 a0001c0043t0001 a0006c0024t0009 a0006c0039t0009	a0001c0007t0003g0026 a0001c0007t0003g0027 a0001c0007t0003g0098 others(3): Show a0001c0007t0003g0026 a0001c0007t0003g0027 a0001c0007t0003g0098 a0001c0043t0001g0179 a0006c0024t0009g0147 a0006c0039t0009g0040	6	272	0.0221	17	c.39 others(28): Show c.3993_*3994insTTTTTTTTTTTTTTTTT		PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding					1225		chr6	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
PLEKHG3_chr14_64699424_64755249	64744771	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01433.hp2 HG02630.hp1 HG02965.hp2 others(2): Show HG01433.hp2 HG02630.hp1 HG02965.hp2 HG03041.hp1 HG03209.hp1	a0002 a0002	a0002c0004 a0002c0008 a0002c0004 a0002c0008	a0002c0004t0016 a0002c0004t0027 a0002c0008t0027 a0002c0004t0016 a0002c0004t0027 a0002c0008t0027	a0002c0004t0016g0016 a0002c0004t0016g0214 a0002c0004t0027g0025 others(1): Show a0002c0004t0016g0016 a0002c0004t0016g0214 a0002c0004t0027g0025 a0002c0008t0027g0188	5	248	0.0202	17	c.10 others(28): Show c.1072_*1088dupTTTTTTTTTTTTTTTTT		PLEKHG3	ENSG00000126822.18	transcript	ENST00000247226.13	protein_coding	17/17				1089	INFO_REALIGN_3_PRIME	chr14	TogoVar
PLEKHG3_chr14_64699424_64755249	64751927	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01175.hp1 HG02080.hp1 others(4): Show HG00741.hp2 HG01175.hp1 HG02080.hp1 HG02257.hp1 HG03041.hp2 NA18977.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0006 others(1): Show a0001c0002 a0001c0003 a0001c0006 a0002c0004	a0001c0002t0014 a0001c0003t0005 a0001c0003t0066 others(2): Show a0001c0002t0014 a0001c0003t0005 a0001c0003t0066 a0001c0006t0011 a0002c0004t0007	a0001c0002t0014g0162 a0001c0003t0005g0039 a0001c0003t0005g0040 others(4): Show a0001c0002t0014g0162 a0001c0003t0005g0039 a0001c0003t0005g0040 a0001c0003t0005g0045 a0001c0003t0066g0046 a0001c0006t0011g0072 a0002c0004t0007g0022	7	248	0.0282	17	c.82 others(28): Show c.8224_*8225insAAAAAAAAAAAAAAAAA		PLEKHG3	ENSG00000126822.18	transcript	ENST00000247226.13	protein_coding					1679		chr14	TogoVar
PLEKHG4B_chr5_87168_194966	135187	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0014 a0014	a0014c0027 a0014c0027	a0014c0027t0049 a0014c0027t0049	a0014c0027t0049g0171 a0014c0027t0049g0171	1	210	0.0048	17	c.244 others(34): Show c.244-4290_244-4274dupAAAAAAAAAAAAAAAAA		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHH2_chr2_43632260_43772987	43636536	T T	TGTGTGTA others(10): Show TGTGTGTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG03491.hp2 HG02647.hp2 HG03491.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0044 a0001c0003 a0003c0044	a0001c0003t0001 a0003c0044t0007 a0001c0003t0001 a0003c0044t0007	a0001c0003t0001g0202 a0003c0044t0007g0185 a0001c0003t0001g0202 a0003c0044t0007g0185	2	256	0.0078	17	c.-84 others(26): Show c.-847_-846insGTGTGTATATATATATA		PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding					723		chr2	TogoVar
PLEKHH2_chr2_43632260_43772987	43636568	A A	ATATATAT others(10): Show ATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0007 a0007	a0007c0035 a0007c0035	a0007c0035t0001 a0007c0035t0001	a0007c0035t0001g0168 a0007c0035t0001g0168	1	256	0.0039	17	c.-81 others(26): Show c.-815_-814insTATATATATATATATAT		PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding					691		chr2	TogoVar
PLEKHH2_chr2_43632260_43772987	43693723	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0100 a0003c0004t0002g0100	1	256	0.0039	17	c.337 others(32): Show c.337-707_337-691dupAAAAAAAAAAAAAAAAA		PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding	4/29					INFO_REALIGN_3_PRIME	chr2	TogoVar
PLEKHH2_chr2_43632260_43772987	43704662	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG04184.hp1 NA18947.hp1 others(1): Show HG02738.hp2 HG04184.hp1 NA18947.hp1 NA19012.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0002 a0005c0008t0003 a0005c0008t0001 a0005c0008t0002 a0005c0008t0003	a0005c0008t0001g0153 a0005c0008t0002g0147 a0005c0008t0002g0230 others(1): Show a0005c0008t0001g0153 a0005c0008t0002g0147 a0005c0008t0002g0230 a0005c0008t0003g0152	4	256	0.0156	17	c.172 others(34): Show c.1726+614_1726+630dupAAAAAAAAAAAAAAAAA		PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding	9/29					INFO_REALIGN_3_PRIME	chr2	TogoVar
PLEKHM3_chr2_207816288_208030527	207841480	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0091 a0001c0003t0001g0091	1	200	0.0050	17	c.210 others(38): Show c.2109-12985_2109-12984insATATATATATATATTTT		PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	7/7						chr2	TogoVar
PLEKHM3_chr2_207816288_208030527	207841480	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0036 a0002c0005t0036	a0002c0005t0036g0098 a0002c0005t0036g0098	1	200	0.0050	17	c.210 others(38): Show c.2109-12985_2109-12984insATATATATATATATATA		PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	7/7						chr2	TogoVar

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