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
PIEZO2_chr18_10665247_11154569	10795378	TATTTTAT others(28): Show TATTTTATTTTATTTTATTTTATTTTATTTTATTCA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0146 a0002c0001t0002g0146	1	158	0.0063	-35	c.152 others(52): Show c.1528-411_1528-377delTGAATAAAATAAAATAAAATAAAATAAA ATAAAAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	12/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10944488	CATATATA others(28): Show CATATATATATATATATATCTTAGTAACAGATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG01175.hp1 others(13): Show HG00140.hp2 HG00639.hp1 HG01175.hp1 HG01981.hp2 HG02040.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG03540.hp1 HG03579.hp1 NA18941.hp2 NA18998.hp1 NA19011.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0006 a0010 a0013 a0014 a0015 a0017 a0018 a0026	a0001c0024 a0001c0040 a0001c0065 others(12): Show a0001c0024 a0001c0040 a0001c0065 a0002c0001 a0003c0009 a0003c0063 a0005c0013 a0006c0077 a0010c0041 a0013c0027 a0014c0036 a0015c0025 a0017c0016 a0018c0030 a0026c0061	a0001c0024t0007 a0001c0040t0001 a0001c0065t0002 others(12): Show a0001c0024t0007 a0001c0040t0001 a0001c0065t0002 a0002c0001t0005 a0003c0009t0002 a0003c0063t0001 a0005c0013t0001 a0006c0077t0006 a0010c0041t0002 a0013c0027t0002 a0014c0036t0002 a0015c0025t0001 a0017c0016t0003 a0018c0030t0003 a0026c0061t0008	a0001c0024t0007g0002 a0001c0040t0001g0106 a0001c0065t0002g0003 others(13): Show a0001c0024t0007g0002 a0001c0040t0001g0106 a0001c0065t0002g0003 a0002c0001t0005g0094 a0003c0009t0002g0131 a0003c0063t0001g0030 a0005c0013t0001g0022 a0006c0077t0006g0001 a0010c0041t0002g0012 a0013c0027t0002g0017 a0013c0027t0002g0048 a0014c0036t0002g0037 a0015c0025t0001g0082 a0017c0016t0003g0090 a0018c0030t0003g0025 a0026c0061t0008g0109	16	158	0.1013	-35	c.287 others(54): Show c.287-33295_287-33261delATATATCTGTTACTAAGATATATATA TATATATAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	3/55			chr18	TogoVar
PIK3CB_chr3_138647698_138839928	138693936	AATATATA others(28): Show AATATATATATATATATATATATATATATATTATAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	206	0.0049	-35	c.189 others(52): Show c.1892+815_1892+849delATATAATATATATATATATATATATATA TATATAT	PIK3CB	ENSG00000051382.9	transcript	ENST00000674063.1	protein_coding	14/23			chr3	TogoVar
PIP4K2A_chr10_22529854_22719578	22538324	GGAGATGA others(28): Show GGAGATGAACATGGAGCCATATTGGCTAGGATAGGA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0150 a0002c0003t0003g0150	1	206	0.0049	-35	c.114 others(54): Show c.1141-1078_1141-1044delTCCTATCCTAGCCAATATGGCTCCAT GTTCATCTC	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	9/9			chr10	TogoVar
PIP5K1C_chr19_3625183_3705468	3647111	GGGGAGGG others(28): Show GGGGAGGGTGCAGGCACTCACAGAGGAGGGATGGGA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0026 a0001c0027t0026	a0001c0027t0026g0323 a0001c0027t0026g0323	1	332	0.0030	-35	c.126 others(52): Show c.1260+192_1260+226delTCCCATCCCTCCTCTGTGAGTGCCTGCA CCCTCCC	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	10/17			chr19	TogoVar
PISD_chr22_31613491_31667215	31637153	AAAAAAAA others(28): Show AAAAAAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0078 a0001c0001t0009g0078	1	328	0.0031	-35	c.321 others(54): Show c.321+10913_321+10947delATATATATATATATATATATATATTT TTTTTTTTT	PISD	ENSG00000241878.12	transcript	ENST00000439502.7	protein_coding	3/7			chr22	TogoVar
PISD_chr22_31613491_31667215	31637155	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03540.hp1 HG02145.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0225 a0001c0001t0009g0076 a0001c0001t0001g0225 a0001c0001t0009g0076	2	328	0.0061	-35	c.321 others(54): Show c.321+10911_321+10945delATATATATATATATATATATATATAT TTTTTTTTT	PISD	ENSG00000241878.12	transcript	ENST00000439502.7	protein_coding	3/7			chr22	TogoVar
PISD_chr22_31613491_31667215	31637157	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03209.hp2 HG02280.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0012 a0001c0001t0009 a0001c0001t0012	a0001c0001t0009g0077 a0001c0001t0012g0105 a0001c0001t0009g0077 a0001c0001t0012g0105	2	328	0.0061	-35	c.321 others(54): Show c.321+10909_321+10943delATATATATATATATATATATATATAT ATTTTTTTT	PISD	ENSG00000241878.12	transcript	ENST00000439502.7	protein_coding	3/7			chr22	TogoVar
PKD1_chr16_2083708_2140898	2091307	GGACGCTG others(28): Show GGACGCTGCGAGGGGGCGGGGCGCTGCGAGGGGTGA	G G	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0046 a0046	a0046c0073 a0046c0073	a0046c0073t0001 a0046c0073t0001	a0046c0073t0001g0062 a0046c0073t0001g0062	1	216	0.0046	-35	c.117 others(53): Show c.11712+81_11712+115delTCACCCCTCGCAGCGCCCCGCCCCCTC GCAGCGTC	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	42/45			chr16	TogoVar
PKD2L1_chr10_100283149_100335228	100314989	AGGAAGGA others(28): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGGAAGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	306	0.0033	-35	c.349 others(54): Show c.349+14187_349+14221delCTTCCCTTCCCTTCCTTCCTTCCTTC CTTCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKLR_chr1_155284293_155306438	155305111	TTACAGGG others(28): Show TTACAGGGGTAACAAAGCCCACTGTTATTAGATCTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0211 a0001c0005t0001g0211	1	311	0.0032	-35	c.-37 others(46): Show c.-3751_-3717delCAGATCTAATAACAGTGGGCTTTGTTACCCCTGT A	PKLR	ENSG00000143627.19	transcript	ENST00000342741.6	protein_coding		3674		chr1	TogoVar
PLA1A_chr3_119592885_119634811	119632175	TTCTATAT others(28): Show TTCTATATGTAATCACTGGATGGAAAGGATATAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0134 a0001c0002t0004g0134	1	420	0.0024	-35	c.27 others(46): Show c.2708_*2742delTCTATATGTAATCACTGGATGGAAAGGATATAAA A	PLA1A	ENSG00000144837.9	transcript	ENST00000273371.9	protein_coding		2365		chr3	TogoVar
PLA2G12A_chr4_109704989_109735070	109705982	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG06807.hp1 HG00738.hp1 HG06807.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0012 a0005c0006t0043 a0001c0001t0012 a0005c0006t0043	a0001c0001t0012g0118 a0005c0006t0043g0062 a0001c0001t0012g0118 a0005c0006t0043g0062	2	412	0.0049	-35	c.83 others(46): Show c.8360_*8394delATATATATATATATATTTTTTTTTTTTTTTTTTT T	PLA2G12A	ENSG00000123739.11	transcript	ENST00000243501.10	protein_coding		4006		chr4	TogoVar
PLA2G2E_chr1_19915009_19928617	19922243	GCCTCCAC others(28): Show GCCTCCACCCACCTCACCGCAGGGTGTCTAGGTCAC	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA20129.hp1 HG03209.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	2	410	0.0049	-35	c.286 others(48): Show c.286+20_286+54delGTGACCTAGACACCCTGCGGTGAGGTGGGTGG AGG	PLA2G2E	ENSG00000188784.4	transcript	ENST00000375116.3	protein_coding	3/3			chr1	TogoVar
PLAAT5_chr11_63456404_63496167	63483785	ATATATAT others(28): Show ATATATATATATATATGTATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp1 HG02896.hp2 others(3): Show HG02622.hp2 HG02630.hp1 HG02896.hp2 HG03486.hp1 HG03516.hp2 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 others(3): Show a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052	6	358	0.0168	-35	c.345 others(52): Show c.345+5051_345+5085delATATATATATATATATATACATATATAT ATATATA	PLAAT5	ENSG00000168004.10	transcript	ENST00000540857.6	protein_coding	3/5			chr11	TogoVar
PLAAT5_chr11_63456404_63496167	63483801	GTATATAT others(28): Show GTATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0094 a0002c0002t0001g0094	1	358	0.0028	-35	c.345 others(52): Show c.345+5035_345+5069delATATATATATATATATATATATATATAT ATATATA	PLAAT5	ENSG00000168004.10	transcript	ENST00000540857.6	protein_coding	3/5			chr11	TogoVar
PLB1_chr2_28491060_28649142	28539983	CACCCCCC others(28): Show CACCCCCCAGGGAGAGCTTCCCTCCATCCCATACCT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02622.hp2 HG03195.hp2 others(1): Show HG00738.hp1 HG02622.hp2 HG03195.hp2 HG03471.hp2	a0002 a0016 a0002 a0016	a0002c0001 a0016c0028 a0002c0001 a0016c0028	a0002c0001t0002 a0016c0028t0008 a0002c0001t0002 a0016c0028t0008	a0002c0001t0002g0094 a0002c0001t0002g0095 a0002c0001t0002g0229 others(1): Show a0002c0001t0002g0094 a0002c0001t0002g0095 a0002c0001t0002g0229 a0016c0028t0008g0093	4	266	0.0150	-35	c.699 others(50): Show c.699-341_699-307delCAGGGAGAGCTTCCCTCCATCCCATACCTA CCCCC	PLB1	ENSG00000163803.13	transcript	ENST00000327757.10	protein_coding	11/57		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCB4_chr20_9064087_9485808	9222036	GTTTTATT others(28): Show GTTTTATTTTATTTTATTTTATTTTATTTTATTTTA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01109.hp1 HG02451.hp1 others(10): Show HG00280.hp1 HG01109.hp1 HG02451.hp1 HG02615.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03195.hp1 HG03540.hp1 HG03579.hp1 NA18522.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0007 a0003c0005t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0045 others(10): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0090 a0001c0001t0002g0083 a0001c0001t0003g0040 a0001c0001t0003g0060 a0002c0002t0001g0101 a0002c0002t0007g0130 a0003c0005t0001g0136	13	140	0.0929	-35	c.-16 others(52): Show c.-16+4624_-16+4658delATTTTATTTTATTTTATTTTATTTTATT TTATTTT	PLCB4	ENSG00000101333.19	transcript	ENST00000378473.9	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCG2_chr16_81774291_81967685	81824031	TTCCTTTC others(28): Show TTCCTTTCCTTTCCTTTCCTGTCCTGTCCTGTCCTG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp1 HG03139.hp2 HG01891.hp1 HG02451.hp1 HG03139.hp2	a0001 a0004 a0001 a0004	a0001c0014 a0001c0017 a0004c0074 a0001c0014 a0001c0017 a0004c0074	a0001c0014t0042 a0001c0017t0008 a0004c0074t0025 a0001c0014t0042 a0001c0017t0008 a0004c0074t0025	a0001c0014t0042g0023 a0001c0017t0008g0015 a0004c0074t0025g0239 a0001c0014t0042g0023 a0001c0017t0008g0015 a0004c0074t0025g0239	3	330	0.0091	-35	c.194 others(54): Show c.194-30408_194-30374delTTCCTTTCCTTTCCTGTCCTGTCCTG TCCTGTCCT	PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr16	TogoVar
PLCL1_chr2_197799593_198154863	198091685	AAAAATAA others(28): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02145.hp2 HG02615.hp1 others(7): Show HG01261.hp1 HG02145.hp2 HG02615.hp1 HG02630.hp2 HG02922.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03516.hp2 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0002c0002 a0002c0007	a0001c0001t0047 a0001c0003t0006 a0001c0004t0001 others(5): Show a0001c0001t0047 a0001c0003t0006 a0001c0004t0001 a0001c0004t0003 a0001c0005t0010 a0002c0002t0001 a0002c0007t0001 a0002c0007t0009	a0001c0001t0047g0055 a0001c0003t0006g0045 a0001c0004t0001g0119 others(7): Show a0001c0001t0047g0055 a0001c0003t0006g0045 a0001c0004t0001g0119 a0001c0004t0001g0126 a0001c0004t0003g0081 a0001c0004t0003g0128 a0001c0005t0010g0135 a0002c0002t0001g0109 a0002c0007t0001g0048 a0002c0007t0009g0049	10	204	0.0490	-35	c.291 others(54): Show c.2919+2669_2919+2703delTAAAATAAAATAAAATAAAATAAAAT AAAATAAAA	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCXD3_chr5_41301952_41515601	41471838	CTCCCCTC others(28): Show CTCCCCTCCCCTCCCCTCCCTTCCCTTCCCTTCCCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01175.hp2 HG02280.hp2 others(2): Show HG01109.hp2 HG01175.hp2 HG02280.hp2 HG03453.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0040 a0001c0002t0033	a0001c0001t0003g0142 a0001c0001t0004g0144 a0001c0001t0005g0106 others(2): Show a0001c0001t0003g0142 a0001c0001t0004g0144 a0001c0001t0005g0106 a0001c0001t0040g0140 a0001c0002t0033g0107	5	244	0.0205	-35	c.103 others(54): Show c.103+38551_103+38585delAGGGAAGGGAAGGGAAGGGAGGGGAG GGGAGGGGA	PLCXD3	ENSG00000182836.11	transcript	ENST00000377801.8	protein_coding	1/2			chr5	TogoVar
PLCXD3_chr5_41301952_41515601	41471848	CTCCCCTC others(28): Show CTCCCCTCCCTTCCCTTCCCTTCCCTTCCCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02615.hp1 HG02896.hp2 others(5): Show HG02257.hp1 HG02615.hp1 HG02896.hp2 HG02897.hp1 HG03579.hp1 NA18952.hp1 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0047 a0001c0001t0050 a0001c0001t0058 a0001c0002t0012	a0001c0001t0001g0077 a0001c0001t0003g0126 a0001c0001t0008g0071 others(5): Show a0001c0001t0001g0077 a0001c0001t0003g0126 a0001c0001t0008g0071 a0001c0001t0008g0072 a0001c0001t0047g0073 a0001c0001t0050g0049 a0001c0001t0058g0206 a0001c0002t0012g0208	8	244	0.0328	-35	c.103 others(54): Show c.103+38541_103+38575delAGGGAGGGGAAGGGAAGGGAAGGGAA GGGAGGGGA	PLCXD3	ENSG00000182836.11	transcript	ENST00000377801.8	protein_coding	1/2			chr5	TogoVar
PLD1_chr3_171595404_171815483	171764876	AAAGAAAG others(28): Show AAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02809.hp1 HG02280.hp2 HG02809.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0028 a0002c0003t0003 a0002c0003t0028	a0002c0003t0003g0259 a0002c0003t0028g0161 a0002c0003t0003g0259 a0002c0003t0028g0161	2	294	0.0068	-35	c.-31 others(54): Show c.-31-26829_-31-26795delCTTCCTTCCTTCCTTCCTTTCTTTCT TTCTTTCTT	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26			chr3	TogoVar
PLD1_chr3_171595404_171815483	171764879	GAAAGAAA others(28): Show GAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0041 a0002c0003t0003g0041	1	294	0.0034	-35	c.-31 others(54): Show c.-31-26832_-31-26798delTTCCTTCCTTCCTTCCTTCCTTTCTT TCTTTCTTT	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26			chr3	TogoVar
PLEKHA8_chr7_30023412_30089650	30056325	TATATATA others(28): Show TATATATAAATAACATATATATAATATATATAACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02622.hp2 HG03225.hp1 others(1): Show HG02559.hp1 HG02622.hp2 HG03225.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0204 a0001c0002t0003g0192 a0001c0002t0003g0193 others(1): Show a0001c0002t0002g0204 a0001c0002t0003g0192 a0001c0002t0003g0193 a0001c0002t0003g0194	4	234	0.0171	-35	c.103 others(53): Show c.1039+991_1039+1025delAATAACATATATATAATATATATAACA CATATATA	PLEKHA8	ENSG00000106086.21	transcript	ENST00000449726.6	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
PLEKHG1_chr6_150594885_150848665	150674618	TTCTCTCT others(28): Show TTCTCTCTCTCCTCCCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0018 a0018	a0018c0057 a0018c0057	a0018c0057t0001 a0018c0057t0001	a0018c0057t0001g0227 a0018c0057t0001g0227	1	272	0.0037	-35	c.-99 others(54): Show c.-99+23843_-99+23877delCTCCCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTC	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG1_chr6_150594885_150848665	150810496	GAGGGAAA others(28): Show GAGGGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01975.hp2 HG01981.hp1 others(2): Show HG01515.hp2 HG01975.hp2 HG01981.hp1 NA19007.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0016 others(2): Show a0001c0001 a0001c0006 a0001c0016 a0001c0019 a0001c0022	a0001c0001t0002 a0001c0006t0008 a0001c0016t0001 others(2): Show a0001c0001t0002 a0001c0006t0008 a0001c0016t0001 a0001c0019t0004 a0001c0022t0001	a0001c0001t0002g0062 a0001c0006t0008g0146 a0001c0016t0001g0254 others(2): Show a0001c0001t0002g0062 a0001c0006t0008g0146 a0001c0016t0001g0254 a0001c0019t0004g0123 a0001c0022t0001g0182	5	272	0.0184	-35	c.127 others(52): Show c.1278+764_1278+798delGGGAAAGAAAGAAAGAAAAAGAAAGAAA GAAAGAA	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG2_chr19_39407669_39433415	39415583	AGGGAGGA others(28): Show AGGGAGGACCCCGAGTGAGGGAGGGGCATAGGGGAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02723.hp1 HG03486.hp2 HG02615.hp2 HG02723.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0004 a0001c0005 a0002c0004	a0001c0005t0010 a0002c0004t0004 a0002c0004t0062 a0001c0005t0010 a0002c0004t0004 a0002c0004t0062	a0001c0005t0010g0126 a0002c0004t0004g0125 a0002c0004t0062g0124 a0001c0005t0010g0126 a0002c0004t0004g0125 a0002c0004t0062g0124	3	414	0.0073	-35	c.479 others(50): Show c.479+175_479+209delGGGATGGGAGGACCCCGAGTGAGGGAGGGG CATAG	PLEKHG2	ENSG00000090924.15	transcript	ENST00000425673.6	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
PLEKHN1_chr1_961482_980865	977558	TCCCGCTC others(28): Show TCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0044 a0002c0006t0044	a0002c0006t0044g0021 a0002c0006t0044g0021	1	422	0.0024	-35	c.29 others(46): Show c.2984_*3018delCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCC C	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1694		chr1	TogoVar
PLEK_chr2_68360282_68402453	68397593	TGGCCAAC others(28): Show TGGCCAACATGGTGAAACACTGTCTCTACTAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0144 a0005c0006t0001g0144	1	374	0.0027	-35	c.17 others(46): Show c.1778_*1812delGGCCAACATGGTGAAACACTGTCTCTACTAAAAA A	PLEK	ENSG00000115956.10	transcript	ENST00000234313.8	protein_coding		141		chr2	TogoVar
PLPPR4_chr1_99259492_99314584	99312965	AGCTGGGA others(28): Show AGCTGGGAGGCCCTGGGCCCAGCTAAAATTGTGTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	384	0.0026	-35	c.59 others(46): Show c.5956_*5990delGCTGGGAGGCCCTGGGCCCAGCTAAAATTGTGTG T	PLPPR4	ENSG00000117600.14	transcript	ENST00000370185.9	protein_coding		3382		chr1	TogoVar
PLPPR5_chr1_98885245_99009861	98973303	GGTAAATG others(28): Show GGTAAATGTAGGGATTGACAGTAGGAAGAGAATACC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01074.hp2 HG01358.hp1 others(13): Show HG00733.hp1 HG01074.hp2 HG01358.hp1 HG01884.hp2 HG01934.hp2 HG01978.hp2 HG02451.hp2 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02896.hp2 HG02897.hp1 HG03471.hp2 HG03704.hp2 HG03834.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009	a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 others(8): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0054 a0001c0002t0035 a0001c0002t0056 a0001c0003t0036 a0001c0009t0055	a0001c0001t0003g0187 a0001c0001t0004g0240 a0001c0001t0004g0241 others(13): Show a0001c0001t0003g0187 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0242 a0001c0001t0017g0239 a0001c0001t0033g0270 a0001c0001t0033g0271 a0001c0001t0034g0277 a0001c0001t0034g0278 a0001c0001t0035g0276 a0001c0001t0054g0274 a0001c0002t0035g0269 a0001c0002t0056g0268 a0001c0003t0036g0272 a0001c0003t0036g0273 a0001c0009t0055g0275	16	280	0.0571	-35	c.238 others(54): Show c.238-16597_238-16563delGGTATTCTCTTCCTACTGTCAATCCC TACATTTAC	PLPPR5	ENSG00000117598.14	transcript	ENST00000263177.5	protein_coding	1/5			chr1	TogoVar
PLXNA4_chr7_132118340_132581470	132132433	TTCTGTTC others(28): Show TTCTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGC	T T	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0024 a0001c0011t0001g0024	1	88	0.0114	-35	c.558 others(52): Show c.5589+581_5589+615delGCAGAACAGAACAGAACAGAACAGAACA GAACAGA	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	31/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132132438	TTCTGTTC others(28): Show TTCTGTTCTGTTCTGTTCTGTTCTGTTCTGCTCTGC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0085 a0001c0006t0007g0085	1	88	0.0114	-35	c.558 others(52): Show c.5589+576_5589+610delGCAGAGCAGAACAGAACAGAACAGAACA GAACAGA	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	31/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132188988	GGAAAGGA others(28): Show GGAAAGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0008 a0001c0014t0008	a0001c0014t0008g0034 a0001c0014t0008g0034	1	88	0.0114	-35	c.285 others(54): Show c.2857-1416_2857-1382delTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCCTTTC	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	14/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132282608	CAGAAAAA others(28): Show CAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA18906.hp2 HG02723.hp1 NA18906.hp2	a0001 a0001	a0001c0030 a0001c0035 a0001c0030 a0001c0035	a0001c0030t0017 a0001c0035t0007 a0001c0030t0017 a0001c0035t0007	a0001c0030t0017g0065 a0001c0035t0007g0018 a0001c0030t0017g0065 a0001c0035t0007g0018	2	88	0.0227	-35	c.150 others(56): Show c.1503+15448_1503+15482delTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTCT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	4/31			chr7	TogoVar
PLXNC1_chr12_94143577_94312675	94144363	CATGCTAT others(28): Show CATGCTATGCTATGCTATGCTATGCTATGCTATGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0016 a0001c0014t0003g0017 a0001c0014t0003g0016 a0001c0014t0003g0017	2	298	0.0067	-35	c.-46 others(46): Show c.-4608_-4574delATGCTATGCTATGCTATGCTATGCTATGCTATGC T	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding		4213		chr12	TogoVar
PMP2_chr8_81435326_81452439	81450027	AAGATCCA others(28): Show AAGATCCAACTCAACTTTTGCTGTTTATTCAATTGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0027 a0001c0001t0020g0027	1	428	0.0023	-35	c.-26 others(46): Show c.-2676_-2642delGCAATTGAATAAACAGCAAAAGTTGAGTTGGATC T	PMP2	ENSG00000147588.7	transcript	ENST00000256103.3	protein_coding		2589		chr8	TogoVar
PNMA6E_chrX_153390639_153406350	153391157	ACACACAC others(28): Show ACACACACCACACACACCATGCACACCACACACACT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0027 a0001c0011t0027	a0001c0011t0027g0088 a0001c0011t0027g0088	1	346	0.0029	-35	c.57 others(46): Show c.5714_*5748delAGTGTGTGTGGTGTGCATGGTGTGTGTGGTGTGT G	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding		4481		chrX	TogoVar
POC5_chr5_75669124_75722437	75714988	CCTGTATT others(28): Show CCTGTATTAGTACGTTTTTCAAACTGCTATAAAGAA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03486.hp1 HG02895.hp1 HG03486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0075 a0001c0004t0001g0078 a0001c0004t0001g0075 a0001c0004t0001g0078	2	380	0.0053	-35	c.-14 others(52): Show c.-14-2072_-14-2038delTTCTTTATAGCAGTTTGAAAAACGTACT AATACAG	POC5	ENSG00000152359.15	transcript	ENST00000428202.7	protein_coding	1/11			chr5	TogoVar
POFUT2_chr21_45258935_45292895	45291755	ACACTGCA others(28): Show ACACTGCAGCCCTCGCCCCCCTCCGGGGTCCCACAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18959.hp2 NA18962.hp2 others(5): Show NA18939.hp2 NA18959.hp2 NA18962.hp2 NA18975.hp1 NA18995.hp2 NA19005.hp1 NA19007.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0012 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0148 a0001c0001t0001g0163	8	436	0.0184	-35	c.-39 others(46): Show c.-3919_-3885delCTGTGGGACCCCGGAGGGGGGCGAGGGCTGCAGT G	POFUT2	ENSG00000186866.17	transcript	ENST00000349485.10	protein_coding		3861		chr21	TogoVar
POFUT2_chr21_45258935_45292895	45291783	TCCCACAG others(28): Show TCCCACAGCACTGCAGCCCTCGCCCCCCATCGGGGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	436	0.0023	-35	c.-39 others(46): Show c.-3947_-3913delTCCCCGATGGGGGGCGAGGGCTGCAGTGCTGTGG G	POFUT2	ENSG00000186866.17	transcript	ENST00000349485.10	protein_coding		3889		chr21	TogoVar
POLE_chr12_132618762_132692342	132674845	CCCTCCCT others(28): Show CCCTCCCTCCCTTCCCTTCCTTCCCTTCCCTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0011 a0001c0035t0011	a0001c0035t0011g0168 a0001c0035t0011g0168	1	292	0.0034	-35	c.122 others(52): Show c.1226+518_1226+552delAAAGGAGGGAAGGGAAGGAAGGGAAGGG AGGGAGG	POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding	12/48			chr12	TogoVar
POLR3A_chr10_77970149_78034515	77979362	GCCCTCTC others(28): Show GCCCTCTCGAACCCCAGCCCCTTACCAGCTCTCACC	G G	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	374	0.0027	-35	c.402 others(52): Show c.4024+744_4024+778delGGTGAGAGCTGGTAAGGGGCTGGGGTTC GAGAGGG	POLR3A	ENSG00000148606.15	transcript	ENST00000372371.8	protein_coding	30/30			chr10	TogoVar
PORCN_chrX_48503992_48525808	48522380	TCCTGTGT others(28): Show TCCTGTGTCTCTTACCAAACCGTGACCCCGGAGCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	297	0.0034	-35	c.19 others(46): Show c.1905_*1939delCCTGTGTCTCTTACCAAACCGTGACCCCGGAGCA C	PORCN	ENSG00000102312.24	transcript	ENST00000326194.11	protein_coding		1573		chrX	TogoVar
POT1_chr7_124817386_124934825	124919975	TACTACCT others(28): Show TACTACCTAAATCTATTTGGGTGCCTTGCCTCCTTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(99): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG01070.hp2 HG01074.hp2 HG01123.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01928.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02129.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03239.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03834.hp1 NA18522.hp2 NA18939.hp2 NA18954.hp1 NA18955.hp1 NA18965.hp2 NA18969.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18979.hp2 NA18982.hp2 NA18985.hp2 NA18987.hp2 NA18993.hp1 NA19007.hp2 NA19011.hp2 NA19012.hp1 NA19054.hp2 NA19057.hp1 NA19062.hp2 NA19063.hp2 NA19068.hp1 NA19074.hp1 NA19082.hp1 NA19084.hp1 NA19087.hp2 NA19088.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0008 a0001c0001 a0001c0002 a0006c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 a0001c0002t0005 a0006c0008t0003	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0096 others(92): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0141 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0204 a0001c0001t0003g0001 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0001t0004g0147 a0001c0001t0004g0149 a0001c0001t0007g0095 a0001c0002t0001g0174 a0001c0002t0001g0187 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0005g0199 a0001c0002t0005g0200 a0006c0008t0003g0148	102	346	0.2948	-35	c.-22 others(54): Show c.-226-4364_-226-4330delTAAGGAGGCAAGGCACCCAAATAGAT TTAGGTAGT	POT1	ENSG00000128513.16	transcript	ENST00000357628.8	protein_coding	2/18			chr7	TogoVar
POU2F1_chr1_167215886_167432340	167343632	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03942.hp2 HG03669.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0035 a0001c0001t0002 a0001c0001t0035	a0001c0001t0002g0064 a0001c0001t0035g0079 a0001c0001t0002g0064 a0001c0001t0035g0079	2	292	0.0069	-35	c.127 others(54): Show c.127+11117_127+11151delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	POU2F1	ENSG00000143190.23	transcript	ENST00000367866.7	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PPARA_chr22_46145526_46248755	46146416	AAAGAGAA others(28): Show AAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	200	0.0050	-35	c.-44 others(46): Show c.-4445_-4411delAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA G	PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding		4109		chr22	TogoVar
PPARGC1A_chr4_23787021_23895047	23859780	CAAAATAA others(28): Show CAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp2 HG00639.hp2 others(75): Show HG00099.hp2 HG00558.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01168.hp1 HG01256.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG02055.hp2 HG02132.hp2 HG02293.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG03195.hp2 HG03490.hp2 HG03516.hp1 HG03704.hp1 HG04228.hp2 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18950.hp2 NA18959.hp1 NA18963.hp2 NA18964.hp2 NA18968.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19009.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19064.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19081.hp1 NA19085.hp1 NA19087.hp2 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0005 others(6): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0016 a0002c0002 a0003c0004 a0004c0007 a0005c0008	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 others(27): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0020 a0001c0001t0030 a0001c0001t0060 a0001c0003t0004 a0001c0003t0005 a0001c0003t0010 a0001c0003t0034 a0001c0003t0035 a0001c0005t0001 a0001c0005t0027 a0001c0006t0005 a0001c0016t0030 a0002c0002t0001 a0002c0002t0006 a0002c0002t0011 a0002c0002t0026 a0002c0002t0048 a0002c0002t0051 a0002c0002t0056 a0003c0004t0002 a0003c0004t0003 a0003c0004t0023 a0003c0004t0025 a0003c0004t0041 a0003c0004t0047 a0004c0007t0037 a0005c0008t0080	a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0008g0051 others(75): Show a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0008g0051 a0001c0001t0008g0109 a0001c0001t0008g0156 a0001c0001t0008g0216 a0001c0001t0009g0186 a0001c0001t0009g0214 a0001c0001t0020g0155 a0001c0001t0020g0212 a0001c0001t0020g0213 a0001c0001t0030g0159 a0001c0001t0060g0011 a0001c0003t0004g0065 a0001c0003t0004g0099 a0001c0003t0004g0174 a0001c0003t0004g0175 a0001c0003t0004g0176 a0001c0003t0004g0240 a0001c0003t0004g0241 a0001c0003t0005g0108 a0001c0003t0005g0111 a0001c0003t0005g0116 a0001c0003t0005g0125 a0001c0003t0005g0129 a0001c0003t0010g0115 a0001c0003t0034g0113 a0001c0003t0034g0229 a0001c0003t0035g0097 a0001c0003t0035g0128 a0001c0005t0001g0054 a0001c0005t0001g0055 a0001c0005t0027g0261 a0001c0006t0005g0104 a0001c0006t0005g0164 a0001c0006t0005g0211 a0001c0006t0005g0217 a0001c0006t0005g0251 a0001c0006t0005g0252 a0001c0016t0030g0281 a0002c0002t0001g0078 a0002c0002t0001g0102 a0002c0002t0001g0110 a0002c0002t0001g0218 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0226 a0002c0002t0001g0246 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0283 a0002c0002t0001g0300 a0002c0002t0006g0049 a0002c0002t0006g0094 a0002c0002t0006g0117 a0002c0002t0011g0264 a0002c0002t0026g0048 a0002c0002t0026g0225 a0002c0002t0048g0147 a0002c0002t0051g0072 a0002c0002t0056g0263 a0003c0004t0002g0228 a0003c0004t0003g0012 a0003c0004t0003g0095 a0003c0004t0003g0101 a0003c0004t0003g0106 a0003c0004t0003g0112 a0003c0004t0003g0130 a0003c0004t0003g0185 a0003c0004t0003g0198 a0003c0004t0023g0114 a0003c0004t0025g0038 a0003c0004t0025g0100 a0003c0004t0041g0172 a0003c0004t0047g0158 a0004c0007t0037g0271 a0005c0008t0080g0032	78	342	0.2281	-35	c.234 others(54): Show c.234+24937_234+24971delATTTTATTTTATTTTATTTTATTTTA TTTTATTTT	PPARGC1A	ENSG00000109819.9	transcript	ENST00000264867.7	protein_coding	2/12			chr4	TogoVar
PPARG_chr3_12284070_12439344	12324978	TAAATGCC others(28): Show TAAATGCCACCAATAAAGAGGCTTTGTGAGCGAGCG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01168.hp2 HG01169.hp1 HG00642.hp2 HG01168.hp2 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0090 a0001c0002t0001g0094 a0001c0002t0001g0086 a0001c0002t0001g0090 a0001c0002t0001g0094	3	294	0.0102	-35	c.-9+ others(52): Show c.-9+12526_-9+12560delAAATGCCACCAATAAAGAGGCTTTGTGA GCGAGCG	PPARG	ENSG00000132170.24	transcript	ENST00000651735.1	protein_coding	2/7			chr3	TogoVar

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