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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PLAC1_chrX_134560838_134663471	134603297	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00642.hp1 HG00140.hp1 HG00280.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0178 a0001c0001t0002g0199 a0001c0001t0002g0200	3	252	0.0119	-23	c.-13 others(42): Show c.-130-1198_-130-1176delAAAAAAATATATATATATATATA	PLAC1	ENSG00000170965.10	transcript	ENST00000359237.9	protein_coding	1/2			chrX	TogoVar
PLAC1_chrX_134560838_134663471	134603299	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	252	0.0040	-23	c.-13 others(42): Show c.-130-1200_-130-1178delAAAAAAAAATATATATATATATA	PLAC1	ENSG00000170965.10	transcript	ENST00000359237.9	protein_coding	1/2			chrX	TogoVar
PLAC1_chrX_134560838_134663471	134603301	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02280.hp1 HG02895.hp1 others(2): Show HG01496.hp1 HG02280.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0082 a0001c0001t0001g0175 others(2): Show a0001c0001t0001g0017 a0001c0001t0001g0082 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177	5	252	0.0198	-23	c.-13 others(42): Show c.-130-1202_-130-1180delAAAAAAAAAAATATATATATATA	PLAC1	ENSG00000170965.10	transcript	ENST00000359237.9	protein_coding	1/2			chrX	TogoVar
PLB1_chr2_28491060_28649142	28601037	GCTTTGTT others(16): Show GCTTTGTTGCTGGGTACAGCGACA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01106.hp2 HG02055.hp2 others(15): Show HG01074.hp1 HG01106.hp2 HG02055.hp2 HG02109.hp1 HG02257.hp2 HG02451.hp1 HG02559.hp2 HG02615.hp1 HG02647.hp2 HG02818.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03579.hp1 NA18906.hp1 NA19043.hp2 NA20129.hp2	a0001 a0005 a0009 a0001 a0005 a0009	a0001c0004 a0005c0016 a0009c0025 others(1): Show a0001c0004 a0005c0016 a0009c0025 a0009c0026	a0001c0004t0001 a0001c0004t0014 a0005c0016t0001 others(2): Show a0001c0004t0001 a0001c0004t0014 a0005c0016t0001 a0009c0025t0002 a0009c0026t0001	a0001c0004t0001g0085 a0001c0004t0001g0191 a0001c0004t0001g0193 others(15): Show a0001c0004t0001g0085 a0001c0004t0001g0191 a0001c0004t0001g0193 a0001c0004t0001g0200 a0001c0004t0001g0202 a0001c0004t0001g0204 a0001c0004t0001g0206 a0001c0004t0001g0257 a0001c0004t0001g0260 a0001c0004t0001g0263 a0001c0004t0001g0266 a0001c0004t0014g0230 a0005c0016t0001g0015 a0005c0016t0001g0106 a0005c0016t0001g0108 a0009c0025t0002g0087 a0009c0026t0001g0091 a0009c0026t0001g0105	18	266	0.0677	-23	c.252 others(40): Show c.2526+180_2527-190delTTGTTGCTGGGTACAGCGACACT	PLB1	ENSG00000163803.13	transcript	ENST00000327757.10	protein_coding	36/57		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLBD1_chr12_14498661_14572883	14526186	CATCAAAA others(16): Show CATCAAAAGTAAGAGACTGTCAAA	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0114 a0007c0008t0001g0114	1	360	0.0028	-23	c.844 others(40): Show c.844+9450_844+9472delTTTGACAGTCTCTTACTTTTGAT	PLBD1	ENSG00000121316.11	transcript	ENST00000240617.10	protein_coding	6/10			chr12	TogoVar
PLCB1_chr20_8127266_8889900	8629947	TTTCTTTT others(16): Show TTTCTTTTCTTTCTTTCTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0041 a0001c0002t0012g0041	1	106	0.0094	-23	c.384 others(40): Show c.384+1519_384+1541delCTTTTCTTTCTTTCTTCTTTCTT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB4_chr20_9064087_9485808	9074807	TAAACAAA others(16): Show TAAACAAAACAAAACAAAACAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG00738.hp2 others(33): Show HG00280.hp2 HG00639.hp2 HG00738.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp2 HG01258.hp2 HG01891.hp1 HG01978.hp1 HG02132.hp1 HG02280.hp1 HG02300.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02896.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03831.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18941.hp2 NA18957.hp2 NA18972.hp2 NA18982.hp2 NA19068.hp2 NA19087.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0006t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004	a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0109 others(33): Show a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0109 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0002g0096 a0001c0001t0002g0127 a0001c0001t0003g0138 a0001c0001t0004g0093 a0001c0001t0006g0108 a0001c0001t0009g0110 a0001c0001t0011g0124 a0001c0001t0012g0118 a0001c0006t0001g0094 a0002c0002t0001g0002 a0002c0002t0001g0097 a0002c0002t0001g0101 a0002c0002t0001g0103 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0115 a0002c0002t0001g0122 a0002c0002t0001g0132 a0002c0002t0002g0095 a0002c0002t0002g0098 a0002c0002t0002g0104 a0002c0002t0002g0114 a0002c0002t0003g0102 a0002c0002t0004g0116	36	140	0.2571	-23	c.-13 others(42): Show c.-135+5602_-135+5624delAAACAAAACAAAACAAAACAAAA	PLCB4	ENSG00000101333.19	transcript	ENST00000378473.9	protein_coding	1/39			chr20	TogoVar
PLCG2_chr16_81774291_81967685	81907925	CCTGGCTG others(16): Show CCTGGCTGGCTTGTCTCTGATTGG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp2 HG01081.hp2 others(23): Show HG00140.hp2 HG00733.hp2 HG01081.hp2 HG01123.hp1 HG01167.hp2 HG01243.hp2 HG01433.hp2 HG01515.hp1 HG01891.hp2 HG01928.hp2 HG02055.hp2 HG02109.hp2 HG02257.hp1 HG02572.hp1 HG02630.hp1 HG02818.hp1 HG02922.hp2 HG03098.hp1 HG03195.hp2 HG03453.hp1 HG03834.hp1 NA18906.hp1 NA19030.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2	a0001 a0015 a0001 a0015	a0001c0005 a0001c0006 a0001c0016 others(9): Show a0001c0005 a0001c0006 a0001c0016 a0001c0018 a0001c0022 a0001c0025 a0001c0028 a0001c0045 a0001c0060 a0001c0069 a0001c0072 a0015c0071	a0001c0005t0005 a0001c0005t0012 a0001c0006t0005 others(16): Show a0001c0005t0005 a0001c0005t0012 a0001c0006t0005 a0001c0006t0008 a0001c0006t0012 a0001c0006t0048 a0001c0016t0005 a0001c0016t0019 a0001c0018t0002 a0001c0022t0002 a0001c0022t0003 a0001c0022t0067 a0001c0025t0031 a0001c0028t0083 a0001c0045t0002 a0001c0060t0005 a0001c0069t0007 a0001c0072t0046 a0015c0071t0005	a0001c0005t0005g0014 a0001c0005t0005g0322 a0001c0005t0005g0327 others(23): Show a0001c0005t0005g0014 a0001c0005t0005g0322 a0001c0005t0005g0327 a0001c0005t0012g0010 a0001c0005t0012g0013 a0001c0005t0012g0167 a0001c0006t0005g0207 a0001c0006t0008g0158 a0001c0006t0012g0166 a0001c0006t0012g0170 a0001c0006t0048g0213 a0001c0016t0005g0210 a0001c0016t0019g0028 a0001c0016t0019g0038 a0001c0018t0002g0159 a0001c0018t0002g0235 a0001c0022t0002g0222 a0001c0022t0003g0236 a0001c0022t0067g0219 a0001c0025t0031g0006 a0001c0028t0083g0120 a0001c0045t0002g0199 a0001c0060t0005g0240 a0001c0069t0007g0169 a0001c0072t0046g0237 a0015c0071t0005g0115	26	330	0.0788	-23	c.155 others(40): Show c.1557+159_1557+181delGCTTGTCTCTGATTGGCTGGCTG	PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding	16/32		INFO_REALIGN_3_PRIME	chr16	TogoVar
PLCH1_chr3_155474881_155750071	155537186	CAAAAAAA others(16): Show CAAAAAAAAAAAAAACCAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0051 a0001c0004t0001g0051	1	264	0.0038	-23	c.136 others(44): Show c.1362+12578_1362+12600delTTTTTTTGGTTTTTTTTTTTTTT	PLCH1	ENSG00000114805.18	transcript	ENST00000460012.7	protein_coding	10/22			chr3	TogoVar
PLCH1_chr3_155474881_155750071	155659302	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG04228.hp2 HG03041.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0240 a0001c0004t0001g0251 a0001c0002t0001g0240 a0001c0004t0001g0251	2	264	0.0076	-23	c.79+ others(40): Show c.79+44821_79+44843delAAAAAAAAAAAAAAAAAAAAAAA	PLCH1	ENSG00000114805.18	transcript	ENST00000460012.7	protein_coding	2/22			chr3	TogoVar
PLCH2_chr1_2471289_2510532	2483791	GGGCGCTG others(16): Show GGGCGCTGACCCCCGTGTGGGGGT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02723.hp1 HG02965.hp2 others(2): Show HG02615.hp1 HG02723.hp1 HG02965.hp2 HG03195.hp2 NA18906.hp1	a0001 a0003 a0026 a0001 a0003 a0026	a0001c0001 a0003c0008 a0026c0037 a0001c0001 a0003c0008 a0026c0037	a0001c0001t0001 a0003c0008t0001 a0003c0008t0002 others(1): Show a0001c0001t0001 a0003c0008t0001 a0003c0008t0002 a0026c0037t0001	a0001c0001t0001g0101 a0003c0008t0001g0054 a0003c0008t0002g0052 others(2): Show a0001c0001t0001g0101 a0003c0008t0001g0054 a0003c0008t0002g0052 a0003c0008t0002g0053 a0026c0037t0001g0127	5	383	0.0131	-23	c.646 others(38): Show c.646-612_646-590delGTGGCGCTGACCCCCGTGTGGGG	PLCH2	ENSG00000149527.18	transcript	ENST00000378486.8	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLCL1_chr2_197799593_198154863	197886411	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0006 a0002c0007t0006	a0002c0007t0006g0012 a0002c0007t0006g0012	1	204	0.0049	-23	c.240 others(42): Show c.240+81091_240+81113delAAAAAAAAAAAAAAAAAAAAAAA	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLD1_chr3_171595404_171815483	171764888	AAAGAAAG others(16): Show AAAGAAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18962.hp1 HG03540.hp1 NA18962.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0004 a0002c0003t0003 a0002c0003t0004	a0002c0003t0003g0072 a0002c0003t0004g0091 a0002c0003t0003g0072 a0002c0003t0004g0091	2	294	0.0068	-23	c.-31 others(42): Show c.-31-26829_-31-26807delCTTCCTTCCTTCCTTCCTTTCTT	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26			chr3	TogoVar
PLD1_chr3_171595404_171815483	171764954	GAAAGAAA others(16): Show GAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0063 a0001c0001t0001g0071	2	294	0.0068	-23	c.-31 others(42): Show c.-31-26895_-31-26873delTTTCTTTCTTTCTTTCTTTCTTT	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26			chr3	TogoVar
PLD5_chr1_242077986_242529697	242162009	AAGGCTAG others(16): Show AAGGCTAGTTATTGCCTATTTGGT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0024 a0001c0001t0005g0024	1	188	0.0053	-23	c.736 others(42): Show c.736-37367_736-37345delACCAAATAGGCAATAACTAGCCT	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	5/9			chr1	TogoVar
PLEKHA2_chr8_38896346_38978912	38899711	GTGTGTGT others(16): Show GTGTGTGTGTGTGTGTGTGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0362 a0001c0001t0002g0362	1	376	0.0027	-23	c.-17 others(34): Show c.-1757_-1735delTGTGTGTGTGTGTGTGTGTGTGT	PLEKHA2	ENSG00000169499.15	transcript	ENST00000617275.5	protein_coding		1634		chr8	TogoVar
PLEKHA7_chr11_16772297_17019414	16887336	CCCTCTCC others(16): Show CCCTCTCCCTCTCCCCACGGTCTG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00544.hp2 others(45): Show HG00280.hp2 HG00408.hp1 HG00544.hp2 HG00609.hp1 HG00642.hp1 HG01081.hp2 HG01167.hp1 HG01175.hp1 HG01256.hp1 HG01258.hp1 HG01361.hp2 HG01433.hp2 HG01928.hp2 HG01934.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02071.hp1 HG02080.hp2 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02523.hp1 HG02717.hp2 HG03453.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03710.hp1 HG03834.hp1 HG04184.hp2 NA18747.hp1 NA18952.hp1 NA18960.hp1 NA18965.hp1 NA18966.hp2 NA18970.hp1 NA18975.hp1 NA18979.hp1 NA18983.hp2 NA18994.hp2 NA19002.hp2 NA19010.hp1 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA19088.hp2	a0001 a0013 a0014 a0001 a0013 a0014	a0001c0001 a0001c0003 a0001c0008 others(5): Show a0001c0001 a0001c0003 a0001c0008 a0001c0009 a0001c0012 a0001c0022 a0013c0025 a0014c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0008t0005 a0001c0009t0004 a0001c0012t0002 a0001c0022t0016 a0013c0025t0005 a0014c0024t0002	a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0021 others(45): Show a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0038 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0068 a0001c0001t0002g0094 a0001c0001t0002g0101 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0148 a0001c0001t0003g0004 a0001c0001t0003g0018 a0001c0001t0003g0061 a0001c0001t0003g0093 a0001c0001t0003g0104 a0001c0001t0003g0108 a0001c0001t0003g0142 a0001c0001t0003g0144 a0001c0003t0001g0179 a0001c0003t0001g0197 a0001c0003t0001g0233 a0001c0003t0001g0234 a0001c0003t0002g0198 a0001c0003t0003g0236 a0001c0003t0003g0237 a0001c0008t0005g0052 a0001c0009t0004g0073 a0001c0009t0004g0103 a0001c0012t0002g0016 a0001c0012t0002g0143 a0001c0012t0002g0152 a0001c0022t0016g0154 a0013c0025t0005g0030 a0014c0024t0002g0042	48	244	0.1967	-23	c.222 others(42): Show c.222-16177_222-16155delCAGACCGTGGGGAGAGGGAGAGG	PLEKHA7	ENSG00000166689.18	transcript	ENST00000531066.6	protein_coding	3/26			chr11	TogoVar
PLEKHA7_chr11_16772297_17019414	16887382	GCCTCTCC others(16): Show GCCTCTCCCTCTCCCCACGGTCTC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00609.hp2 others(19): Show HG00099.hp2 HG00280.hp1 HG00609.hp2 HG01069.hp2 HG01081.hp1 HG01168.hp2 HG01175.hp2 HG01346.hp1 HG02080.hp1 HG02523.hp2 HG02615.hp2 HG02809.hp2 HG03209.hp1 HG03239.hp1 HG03834.hp2 NA18969.hp1 NA18971.hp2 NA19056.hp2 NA19088.hp1 NA19091.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0001c0008 others(4): Show a0001c0001 a0001c0003 a0001c0008 a0001c0015 a0001c0018 a0001c0040 a0008c0038	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 a0001c0008t0005 a0001c0015t0006 a0001c0018t0006 a0001c0040t0001 a0008c0038t0002	a0001c0001t0001g0046 a0001c0001t0001g0074 a0001c0001t0001g0107 others(19): Show a0001c0001t0001g0046 a0001c0001t0001g0074 a0001c0001t0001g0107 a0001c0001t0001g0127 a0001c0001t0002g0045 a0001c0001t0002g0063 a0001c0001t0002g0089 a0001c0001t0002g0102 a0001c0001t0002g0118 a0001c0001t0002g0124 a0001c0001t0002g0137 a0001c0001t0003g0034 a0001c0001t0003g0071 a0001c0001t0003g0155 a0001c0003t0001g0190 a0001c0003t0001g0230 a0001c0003t0002g0232 a0001c0008t0005g0113 a0001c0015t0006g0216 a0001c0018t0006g0200 a0001c0040t0001g0167 a0008c0038t0002g0166	22	244	0.0902	-23	c.222 others(42): Show c.222-16223_222-16201delGAGACCGTGGGGAGAGGGAGAGG	PLEKHA7	ENSG00000166689.18	transcript	ENST00000531066.6	protein_coding	3/26			chr11	TogoVar
PLEKHA7_chr11_16772297_17019414	16977309	GGCTCCCA others(16): Show GGCTCCCACTTCTCAACTTCAAGA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0202 a0001c0003t0011g0202	1	244	0.0041	-23	c.221 others(42): Show c.221+36657_221+36679delTCTTGAAGTTGAGAAGTGGGAGC	PLEKHA7	ENSG00000166689.18	transcript	ENST00000531066.6	protein_coding	3/26			chr11	TogoVar
PLEKHG1_chr6_150594885_150848665	150810496	GAGGGAAA others(16): Show GAGGGAAAGAAAGAAAGAAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0093 a0001c0001t0022g0093	1	272	0.0037	-23	c.127 others(40): Show c.1278+764_1278+786delGGGAAAGAAAGAAAGAAAAAGAA	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG4B_chr5_87168_194966	135677	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA18971.hp1 homoSapiens_chm13v2.hp1 HG01255.hp1 NA18971.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0048 a0004c0006 a0005c0008 a0001c0048 a0004c0006 a0005c0008	a0001c0048t0013 a0004c0006t0134 a0005c0008t0111 a0001c0048t0013 a0004c0006t0134 a0005c0008t0111	a0001c0048t0013g0055 a0004c0006t0134g0011 a0005c0008t0111g0091 a0001c0048t0013g0055 a0004c0006t0134g0011 a0005c0008t0111g0091	3	210	0.0143	-23	c.244 others(40): Show c.244-3804_244-3782delAAAAATATATATATATATATATA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	135679	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp1 HG00733.hp1 others(4): Show HG00140.hp1 HG00597.hp1 HG00733.hp1 HG00735.hp1 HG01070.hp2 HG01071.hp2 HG01978.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0031	a0001c0001 a0001c0002 a0002c0005 others(2): Show a0001c0001 a0001c0002 a0002c0005 a0003c0004 a0031c0031	a0001c0001t0027 a0001c0001t0113 a0001c0002t0022 others(3): Show a0001c0001t0027 a0001c0001t0113 a0001c0002t0022 a0002c0005t0127 a0003c0004t0089 a0031c0031t0085	a0001c0001t0027g0052 a0001c0001t0027g0053 a0001c0001t0113g0044 others(4): Show a0001c0001t0027g0052 a0001c0001t0027g0053 a0001c0001t0113g0044 a0001c0002t0022g0138 a0002c0005t0127g0124 a0003c0004t0089g0014 a0031c0031t0085g0108	7	210	0.0333	-23	c.244 others(40): Show c.244-3802_244-3780delAAATATATATATATATATATATA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG7_chr12_92697989_92777455	92761607	AAAAGAAA others(16): Show AAAAGAAAGAAAGAAAGAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	252	0.0040	-23	c.163 others(40): Show c.1637-126_1637-104delGAAAGAAAGAAAGAAAGAAAGAA	PLEKHG7	ENSG00000187510.11	transcript	ENST00000344636.6	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHH1_chr14_67528290_67594612	67579060	TAGATAGG others(16): Show TAGATAGGGATCCGGGGTGCCAAA	T T	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0192 a0002c0004t0003g0192	1	414	0.0024	-23	c.285 others(38): Show c.2850-73_2850-51delAGATAGGGATCCGGGGTGCCAAA	PLEKHH1	ENSG00000054690.14	transcript	ENST00000329153.10	protein_coding	20/28			chr14	TogoVar
PLEKHM3_chr2_207816288_208030527	207918521	CAACAAAC others(16): Show CAACAAACAAACAAACAAACAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02976.hp2 HG03041.hp2 others(5): Show HG02258.hp2 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp2 HG03579.hp1 NA18906.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0016 a0001c0001t0051 others(2): Show a0001c0001t0005 a0001c0001t0016 a0001c0001t0051 a0001c0002t0005 a0001c0002t0052	a0001c0001t0005g0088 a0001c0001t0016g0005 a0001c0001t0051g0123 others(5): Show a0001c0001t0005g0088 a0001c0001t0016g0005 a0001c0001t0051g0123 a0001c0002t0005g0159 a0001c0002t0005g0161 a0001c0002t0005g0162 a0001c0002t0005g0183 a0001c0002t0052g0160	8	200	0.0400	-23	c.188 others(42): Show c.1887-9967_1887-9945delTTTTGTTTGTTTGTTTGTTTGTT	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	5/7			chr2	TogoVar
PLEKHM3_chr2_207816288_208030527	208020156	CACAGGTA others(16): Show CACAGGTAAACTGGCTAATGCGAG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	200	0.0050	-23	c.-31 others(42): Show c.-319+5210_-319+5232delCTCGCATTAGCCAGTTTACCTGT	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	1/7			chr2	TogoVar
PLEKHO1_chr1_150144916_150165065	150156832	ATAATCTC others(16): Show ATAATCTCTTATTTCTTCATTGTC	A A	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0077 a0006c0010t0001g0077	1	426	0.0024	-23	c.319 others(36): Show c.319-78_319-56delTAATCTCTTATTTCTTCATTGTC	PLEKHO1	ENSG00000023902.14	transcript	ENST00000369124.5	protein_coding	3/5			chr1	TogoVar
PLEKHO2_chr15_64836915_64873002	64840105	CTTCCTTT others(16): Show CTTCCTTTCTTTCTCTCTTTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02622.hp1 HG02630.hp2 others(3): Show HG02258.hp2 HG02622.hp1 HG02630.hp2 HG02886.hp2 HG03225.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0036 a0001c0001t0010g0038 a0001c0001t0010g0169 others(1): Show a0001c0001t0004g0036 a0001c0001t0010g0038 a0001c0001t0010g0169 a0001c0001t0010g0174	6	322	0.0186	-23	c.-19 others(34): Show c.-1911_-1889delTTCCTTTCTTTCTCTCTTTTTCT	PLEKHO2	ENSG00000241839.10	transcript	ENST00000323544.5	protein_coding		1809		chr15	TogoVar
PLEKHS1_chr10_113746682_113788429	113785349	TATATATA others(16): Show TATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0246 a0001c0001t0016g0246	1	402	0.0025	-23	c.45 others(34): Show c.4569_*4591delATATATATATATATATATATATA	PLEKHS1	ENSG00000148735.16	transcript	ENST00000694986.1	protein_coding		1921		chr10	TogoVar
PLK1_chr16_23673889_23695367	23684957	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	354	0.0028	-23	c.103 others(40): Show c.1036+888_1036+910delTTTTTTTTTTTTTTTTTTTTTTT	PLK1	ENSG00000166851.15	transcript	ENST00000300093.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
PLPP4_chr10_120452227_120597065	120457158	TGCCCCCG others(16): Show TGCCCCCGCCCGGCGCCCGCCTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0323 a0001c0001t0007g0323	1	328	0.0031	-23	c.-14 others(32): Show c.-147_-125delGCCCCCGCCCGGCGCCCGCCTCC	PLPP4	ENSG00000203805.11	transcript	ENST00000398250.6	protein_coding		68		chr10	TogoVar
PLPPR1_chr9_101023727_101330135	101078165	AAGAAGAA others(16): Show AAGAAGAAGAAGAAGAAGAAGAGG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0039 a0001c0003t0001g0039	1	203	0.0049	-23	c.-46 others(42): Show c.-46+49066_-46+49088delAAGAAGAAGAAGAAGAAGAGGAG	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLXDC2_chr10_19811432_20294856	19988776	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0144 a0001c0001t0017g0144	1	180	0.0056	-23	c.113 others(42): Show c.113-12984_113-12962delTTTTTTTTTTTTTTTTTTTTTTT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXNB2_chr22_50269979_50312646	50307780	GAGGGGGG others(16): Show GAGGGGGGAGAGGGGGAGGGGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0004 a0004	a0004c0026 a0004c0026	a0004c0026t0003 a0004c0026t0003	a0004c0026t0003g0261 a0004c0026t0003g0261	1	302	0.0033	-23	c.-32 others(32): Show c.-324_-302delTCCCCCCTCCCCCTCTCCCCCCT	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		135		chr22	TogoVar
PMS1_chr2_189779450_189882629	189818642	TAGTTTTA others(16): Show TAGTTTTATCTTTATTACATAAAG	T T	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0038 a0001c0001t0008g0038	1	234	0.0043	-23	c.582 others(38): Show c.582+466_582+488delTTTATCTTTATTACATAAAGAGT	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS1_chr2_189779450_189882629	189860800	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG03453.hp1 HG02280.hp1 HG02559.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0014 a0001c0003t0001g0042 a0001c0003t0001g0044 a0001c0003t0001g0014 a0001c0003t0001g0042 a0001c0003t0001g0044	3	234	0.0128	-23	c.185 others(42): Show c.1857-2926_1857-2904delTTTTTTTTTTTTTTTTTTTTTTT	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS1_chr2_189779450_189882629	189864680	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	234	0.0043	-23	c.234 others(40): Show c.2342+454_2342+476delAAAAAAATATATATATATATATA	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS1_chr2_189779450_189882629	189864684	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0223 a0001c0001t0003g0223	1	234	0.0043	-23	c.234 others(40): Show c.2342+458_2342+480delAAATATATATATATATATATATA	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS1_chr2_189779450_189882629	189864688	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02970.hp2 NA18964.hp2 others(1): Show HG02717.hp1 HG02970.hp2 NA18964.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0043 a0001c0001t0002g0049 a0001c0001t0002g0088 others(1): Show a0001c0001t0002g0043 a0001c0001t0002g0049 a0001c0001t0002g0088 a0001c0001t0007g0216	4	234	0.0171	-23	c.234 others(40): Show c.2342+461_2342+483delTATATATATATATATATATATAT	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12			chr2	TogoVar
PMS2_chr7_5965925_6014049	5975918	TGTTTTTC others(16): Show TGTTTTTCTCTTGTCATTTCCTGC	T T	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0161 a0002c0001t0001g0161	1	408	0.0025	-23	c.244 others(42): Show c.2445+1647_2445+1669delGCAGGAAATGACAAGAGAAAAAC	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding	14/14			chr7	TogoVar
PNISR_chr6_99393050_99430308	99419168	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19000.hp1 NA18944.hp2 NA19000.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0026 a0001c0003t0001g0026	2	406	0.0049	-23	c.-11 others(42): Show c.-111-2763_-111-2741delCTTTTTTTTTTTTTTTTTTTTTT	PNISR	ENSG00000132424.17	transcript	ENST00000369239.10	protein_coding	1/11			chr6	TogoVar
PNMA5_chrX_152983824_152999116	152996355	AACAGTGA others(16): Show AACAGTGAAGGTTAAGAAACCCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	286	0.0035	-23	c.-26 others(34): Show c.-2675_-2653delGAGGGTTTCTTAACCTTCACTGT	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		2240		chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153069038	AGGGGAGA others(16): Show AGGGGAGAGAATCTTGGCTGCTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0004 a0005c0016t0004	a0005c0016t0004g0002 a0005c0016t0004g0002	1	86	0.0116	-23	c.-36 others(34): Show c.-3696_-3674delGGGGAGAGAATCTTGGCTGCTTT	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding		3415		chrX	TogoVar
PNPLA7_chr9_137454952_137555402	137551669	CGCCCCGC others(16): Show CGCCCCGCGAGCCCCGCCCCGCGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01123.hp2 HG01361.hp2 others(10): Show HG00642.hp1 HG01123.hp2 HG01361.hp2 HG01496.hp1 HG01891.hp2 HG02109.hp1 HG02886.hp2 HG02922.hp2 HG03041.hp1 HG03579.hp1 NA18906.hp1 NA18906.hp2 NA19043.hp2	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0006 others(5): Show a0001c0001 a0001c0002 a0001c0006 a0001c0028 a0002c0004 a0007c0018 a0008c0014 a0009c0010	a0001c0001t0001 a0001c0002t0001 a0001c0006t0003 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0003 a0001c0028t0001 a0002c0004t0001 a0007c0018t0001 a0008c0014t0001 a0009c0010t0001	a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0118 others(10): Show a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0002t0001g0111 a0001c0002t0001g0114 a0001c0002t0001g0117 a0001c0006t0003g0169 a0001c0028t0001g0170 a0002c0004t0001g0171 a0007c0018t0001g0112 a0008c0014t0001g0151 a0009c0010t0001g0115 a0009c0010t0001g0116	13	188	0.0692	-23	c.-14 others(34): Show c.-1495_-1473delTCGCGGGGCGGGGCTCGCGGGGC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding		1268		chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137551683	CGCCCCGC others(16): Show CGCCCCGCGAGCCCCGCCCCGCGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00597.hp2 others(29): Show HG00423.hp1 HG00558.hp1 HG00597.hp2 HG00738.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01361.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG02071.hp1 HG02129.hp1 HG02132.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02897.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp2 NA18951.hp2 NA19007.hp2 NA19066.hp2 NA19070.hp1 NA19080.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0008 a0009 a0015 a0016 a0029 a0032 a0033	a0001c0001 a0001c0002 a0001c0042 others(12): Show a0001c0001 a0001c0002 a0001c0042 a0001c0048 a0002c0003 a0002c0004 a0004c0054 a0008c0014 a0008c0031 a0009c0010 a0015c0041 a0016c0017 a0029c0038 a0032c0036 a0033c0050	a0001c0001t0001 a0001c0002t0001 a0001c0042t0001 others(12): Show a0001c0001t0001 a0001c0002t0001 a0001c0042t0001 a0001c0048t0001 a0002c0003t0001 a0002c0004t0001 a0004c0054t0002 a0008c0014t0001 a0008c0031t0001 a0009c0010t0001 a0015c0041t0001 a0016c0017t0004 a0029c0038t0001 a0032c0036t0001 a0033c0050t0001	a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0065 others(29): Show a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0002t0001g0131 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0042t0001g0139 a0001c0048t0001g0147 a0002c0003t0001g0134 a0002c0004t0001g0155 a0004c0054t0002g0132 a0008c0014t0001g0163 a0008c0031t0001g0124 a0009c0010t0001g0152 a0015c0041t0001g0063 a0016c0017t0004g0135 a0029c0038t0001g0153 a0032c0036t0001g0059 a0033c0050t0001g0136	32	188	0.1702	-23	c.-15 others(34): Show c.-1509_-1487delTCGCGGGGCGGGGCTCGCGGGGC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding		1282		chr9	TogoVar
PNPLA8_chr7_108465417_108531135	108505327	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	390	0.0026	-23	c.120 others(42): Show c.1207-2708_1207-2686delTATATATATATATATATATATAT	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	4/10			chr7	TogoVar
PNPLA8_chr7_108465417_108531135	108505329	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02004.hp1 HG02300.hp1 others(1): Show HG01993.hp1 HG02004.hp1 HG02300.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0195 a0001c0001t0001g0208 a0001c0001t0001g0224 others(1): Show a0001c0001t0001g0195 a0001c0001t0001g0208 a0001c0001t0001g0224 a0001c0001t0003g0120	4	390	0.0103	-23	c.120 others(42): Show c.1207-2710_1207-2688delTATATATATATATATATATATAT	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	4/10			chr7	TogoVar
PNPT1_chr2_55629061_55698844	55657856	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00544.hp2 others(65): Show HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp2 HG01255.hp2 HG01928.hp2 HG01934.hp2 HG01975.hp2 HG01978.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02129.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02523.hp2 HG02602.hp2 HG02698.hp1 HG02735.hp2 HG02970.hp1 HG03017.hp2 HG03490.hp1 HG03491.hp2 HG03710.hp1 HG03927.hp2 HG04115.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18950.hp1 NA18953.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18981.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18993.hp2 NA18994.hp2 NA19003.hp1 NA19007.hp1 NA19009.hp2 NA19056.hp1 NA19063.hp1 NA19065.hp1 NA19074.hp2 NA19078.hp1 NA19080.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0004 a0007c0007 a0001c0001 a0001c0004 a0007c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0017 a0001c0001t0031 a0001c0001t0033 a0001c0004t0004 a0007c0007t0003	a0001c0001t0002g0356 a0001c0001t0003g0004 a0001c0001t0003g0288 others(63): Show a0001c0001t0002g0356 a0001c0001t0003g0004 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0293 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0324 a0001c0001t0003g0326 a0001c0001t0003g0327 a0001c0001t0003g0328 a0001c0001t0003g0330 a0001c0001t0003g0331 a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0003g0335 a0001c0001t0003g0337 a0001c0001t0003g0338 a0001c0001t0003g0339 a0001c0001t0003g0343 a0001c0001t0003g0344 a0001c0001t0003g0349 a0001c0001t0003g0350 a0001c0001t0003g0351 a0001c0001t0003g0352 a0001c0001t0003g0353 a0001c0001t0003g0354 a0001c0001t0003g0355 a0001c0001t0003g0357 a0001c0001t0003g0358 a0001c0001t0003g0361 a0001c0001t0003g0362 a0001c0001t0003g0364 a0001c0001t0003g0366 a0001c0001t0003g0367 a0001c0001t0003g0368 a0001c0001t0009g0297 a0001c0001t0009g0336 a0001c0001t0009g0359 a0001c0001t0009g0360 a0001c0001t0017g0325 a0001c0001t0031g0372 a0001c0001t0033g0345 a0001c0004t0004g0008 a0001c0004t0004g0025 a0007c0007t0003g0306	68	390	0.1744	-23	c.128 others(42): Show c.1285-1508_1285-1486delTTTTTTTTTTTTTTTTTTTTTTT	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	15/27			chr2	TogoVar
POLA1_chrX_24688918_25001986	24806053	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG00735.hp2 others(18): Show HG00140.hp1 HG00639.hp2 HG00735.hp2 HG01255.hp1 HG01258.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG02148.hp2 HG02280.hp2 HG02572.hp1 HG02976.hp1 HG03225.hp1 HG04228.hp1 NA18906.hp1 NA18943.hp1 NA18970.hp1 NA18989.hp1 NA19012.hp1 NA19067.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0016 a0001c0001t0001g0041 a0001c0001t0001g0042 others(18): Show a0001c0001t0001g0016 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0120 a0001c0001t0007g0060	21	197	0.1066	-23	c.296 others(42): Show c.2965-3811_2965-3789delTTTTTTTTTTTTTTTTTTTTTTT	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	26/36		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLD3_chr11_74587582_74648076	74609356	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0074 a0001c0002t0004g0074	1	400	0.0025	-23	c.220 others(40): Show c.220-2141_220-2119delATATATATATATATATTTTTTTT	POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar

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