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	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
PPP1R13B_chr14_103728195_103852575	103776186	G G	GAGGGAGG others(29): Show GAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	332	0.0030	36	c.354 others(53): Show c.354+2558_354+2559insTCCTTCCTTCCTTCCTTCCTCCCTCCCT CCCTCCCT		PPP1R13B	ENSG00000088808.18	transcript	ENST00000202556.14	protein_coding	4/16						chr14	TogoVar
PPP1R13B_chr14_103728195_103852575	103776186	G G	GAGGGAGG others(29): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0273 a0001c0001t0004g0274	2	332	0.0060	36	c.354 others(53): Show c.354+2558_354+2559insTCCTTCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCT		PPP1R13B	ENSG00000088808.18	transcript	ENST00000202556.14	protein_coding	4/16						chr14	TogoVar
PPP1R13B_chr14_103728195_103852575	103776186	G G	GAGGGAGG others(29): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0330 a0001c0001t0008g0330	1	332	0.0030	36	c.354 others(53): Show c.354+2558_354+2559insTCCTTCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCT		PPP1R13B	ENSG00000088808.18	transcript	ENST00000202556.14	protein_coding	4/16						chr14	TogoVar
PPP1R13B_chr14_103728195_103852575	103776186	G G	GAGGGAGG others(29): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01358.hp1 others(8): Show HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01975.hp1 HG02735.hp1 HG03490.hp1 HG03492.hp2 HG03540.hp2 HG04204.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 others(8): Show a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0004g0085 a0001c0001t0004g0087 a0001c0001t0004g0179 a0001c0001t0004g0277 a0001c0001t0004g0278	11	332	0.0331	36	c.354 others(53): Show c.354+2558_354+2559insTCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCT		PPP1R13B	ENSG00000088808.18	transcript	ENST00000202556.14	protein_coding	4/16						chr14	TogoVar
PPP1R14C_chr6_150138044_150255392	150236638	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGCGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0068 a0001c0001t0013g0068	1	312	0.0032	36	c.424 others(55): Show c.424-12107_424-12106insTGTGTGTGTGTGTGTGTGCGTGTGTG TGTGTGTGCG		PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP1R16B_chr20_38800697_38928024	38855982	A A	AGAGAGAG others(29): Show AGAGAGAGAGAGAAGGAGGAGGAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18960.hp2 NA19010.hp1 others(1): Show HG03471.hp1 NA18960.hp2 NA19010.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0132 a0001c0001t0001g0180 a0001c0001t0001g0226 others(1): Show a0001c0001t0001g0132 a0001c0001t0001g0180 a0001c0001t0001g0226 a0001c0002t0004g0154	4	244	0.0164	36	c.250 others(55): Show c.250+19807_250+19808insGAGAGAGAGAGAAGGAGGAGGAGGAG GAGGAGGAGG		PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	2/10						chr20	TogoVar
PPP1R3F_chrX_49264793_49293090	49291316	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG03492.hp1 HG04228.hp1 others(3): Show HG00423.hp1 HG03492.hp1 HG04228.hp1 NA18969.hp1 NA19058.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0017 a0001c0001t0001g0031 a0001c0001t0001g0114 others(2): Show a0001c0001t0001g0017 a0001c0001t0001g0031 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0008t0001g0110	6	288	0.0208	36	c.42 others(47): Show c.4226_*4227insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGTC TG		PPP1R3F	ENSG00000049769.14	transcript	ENST00000055335.11	protein_coding					3227		chrX	TogoVar
PPP1R9A_chr7_94902594_95301400	95070610	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01934.hp1 HG01361.hp2 HG01934.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0005 a0003c0003t0001 a0003c0003t0005	a0003c0003t0001g0122 a0003c0003t0005g0116 a0003c0003t0001g0122 a0003c0003t0005g0116	2	290	0.0069	36	c.139 others(57): Show c.1396-40648_1396-40647insTATATATATATATATATATATATA TATATATATACA		PPP1R9A	ENSG00000158528.12	transcript	ENST00000433360.6	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr7	TogoVar
PPP2R1B_chr11_111732877_111771389	111766393	T T	TCCCGCCC others(29): Show TCCCGCCCCGCGCCCAGGCCCCGCCCCGCGCCCAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00621.hp1 others(126): Show HG00099.hp1 HG00408.hp1 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp2 HG02004.hp1 HG02056.hp1 HG02129.hp1 HG02135.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03017.hp1 HG03209.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp1 NA18951.hp1 NA18952.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18974.hp1 NA18977.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18989.hp1 NA18994.hp2 NA18997.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19007.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19085.hp1 NA19085.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0004c0008 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0048 a0001c0001t0056 a0001c0001t0058 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0002t0002 a0001c0002t0003 a0001c0002t0031 a0001c0002t0046 a0001c0003t0039 a0002c0004t0013 a0004c0008t0004 a0005c0009t0004	a0001c0001t0001g0009 a0001c0001t0001g0130 a0001c0001t0002g0003 others(99): Show a0001c0001t0001g0009 a0001c0001t0001g0130 a0001c0001t0002g0003 a0001c0001t0002g0016 a0001c0001t0002g0034 a0001c0001t0002g0065 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0088 a0001c0001t0003g0007 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0079 a0001c0001t0003g0095 a0001c0001t0004g0023 a0001c0001t0004g0043 a0001c0001t0004g0049 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0180 a0001c0001t0004g0182 a0001c0001t0004g0186 a0001c0001t0004g0188 a0001c0001t0004g0195 a0001c0001t0004g0199 a0001c0001t0004g0204 a0001c0001t0004g0207 a0001c0001t0007g0012 a0001c0001t0007g0021 a0001c0001t0007g0047 a0001c0001t0007g0168 a0001c0001t0007g0193 a0001c0001t0007g0194 a0001c0001t0007g0200 a0001c0001t0007g0211 a0001c0001t0008g0005 a0001c0001t0008g0050 a0001c0001t0008g0051 a0001c0001t0008g0218 a0001c0001t0009g0177 a0001c0001t0010g0014 a0001c0001t0010g0018 a0001c0001t0010g0066 a0001c0001t0010g0094 a0001c0001t0011g0022 a0001c0001t0011g0044 a0001c0001t0011g0059 a0001c0001t0011g0192 a0001c0001t0011g0205 a0001c0001t0012g0175 a0001c0001t0013g0017 a0001c0001t0013g0067 a0001c0001t0013g0096 a0001c0001t0014g0004 a0001c0001t0014g0149 a0001c0001t0016g0008 a0001c0001t0017g0031 a0001c0001t0017g0032 a0001c0001t0018g0107 a0001c0001t0019g0036 a0001c0001t0019g0174 a0001c0001t0020g0221 a0001c0001t0020g0223 a0001c0001t0020g0233 a0001c0001t0021g0048 a0001c0001t0021g0190 a0001c0001t0021g0191 a0001c0001t0021g0208 a0001c0001t0022g0045 a0001c0001t0022g0185 a0001c0001t0022g0213 a0001c0001t0024g0179 a0001c0001t0024g0184 a0001c0001t0024g0216 a0001c0001t0025g0166 a0001c0001t0025g0201 a0001c0001t0025g0202 a0001c0001t0025g0212 a0001c0001t0028g0093 a0001c0001t0028g0097 a0001c0001t0029g0046 a0001c0001t0029g0181 a0001c0001t0034g0035 a0001c0001t0035g0033 a0001c0001t0037g0189 a0001c0001t0038g0167 a0001c0001t0048g0164 a0001c0001t0056g0086 a0001c0001t0058g0090 a0001c0001t0062g0057 a0001c0001t0063g0056 a0001c0001t0064g0169 a0001c0001t0065g0170 a0001c0002t0002g0013 a0001c0002t0002g0237 a0001c0002t0003g0055 a0001c0002t0031g0054 a0001c0002t0046g0235 a0001c0003t0039g0053 a0002c0004t0013g0062 a0004c0008t0004g0173 a0005c0009t0004g0209	129	358	0.3603	36	c.-33 others(43): Show c.-33_-32insGCCTGGGCGCGGGGCGGGGCCTGGGCGCGGGGCGGG		PPP2R1B	ENSG00000137713.16	transcript	ENST00000527614.6	protein_coding					5		chr11	TogoVar
PPP2R1B_chr11_111732877_111771389	111766404	G G	GCCCAGGC others(29): Show GCCCAGGCCCCGCCCCGCGCCCAGGCCCCGCCCCGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	358	0.0028	36	c.-44 others(43): Show c.-44_-43insTGCGGGGCGGGGCCTGGGCGCGGGGCGGGGCCTGGG		PPP2R1B	ENSG00000137713.16	transcript	ENST00000527614.6	protein_coding					16		chr11	TogoVar
PPP2R2B_chr5_146575742_146883757	146812815	A A	ATATATGT others(29): Show ATATATGTATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18967.hp1 HG00673.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0005 a0001c0001t0009	a0001c0001t0005g0128 a0001c0001t0009g0093 a0001c0001t0005g0128 a0001c0001t0009g0093	2	170	0.0118	36	c.70+ others(53): Show c.70+65186_70+65187insCATATATATATATATATATATATATATA TACATATA		PPP2R2B	ENSG00000156475.19	transcript	ENST00000394411.9	protein_coding	2/9						chr5	TogoVar
PPP2R2B_chr5_146575742_146883757	146812815	A A	ATATGTAT others(29): Show ATATGTATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03942.hp1 HG01106.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0097 a0001c0001t0094 a0001c0001t0097	a0001c0001t0094g0125 a0001c0001t0097g0105 a0001c0001t0094g0125 a0001c0001t0097g0105	2	170	0.0118	36	c.70+ others(53): Show c.70+65186_70+65187insCATATATATATATATATATATATATATA TATACATA		PPP2R2B	ENSG00000156475.19	transcript	ENST00000394411.9	protein_coding	2/9						chr5	TogoVar
PPP2R2B_chr5_146575742_146883757	146812815	A A	ATGTATAT others(29): Show ATGTATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	170	0.0059	36	c.70+ others(53): Show c.70+65186_70+65187insCATATATATATATATATATATATATATA TATATACA		PPP2R2B	ENSG00000156475.19	transcript	ENST00000394411.9	protein_coding	2/9						chr5	TogoVar
PPP2R2C_chr4_6315581_6477614	6336705	C C	CTCCCTCC others(29): Show CTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01978.hp2 HG02602.hp1 others(11): Show HG00544.hp2 HG01978.hp2 HG02602.hp1 NA18942.hp2 NA18957.hp1 NA18964.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19010.hp1 NA19010.hp2 NA19064.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 a0001c0001t0025 a0001c0001t0027	a0001c0001t0001g0056 a0001c0001t0001g0073 a0001c0001t0001g0133 others(11): Show a0001c0001t0001g0056 a0001c0001t0001g0073 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0004g0261 a0001c0001t0004g0276 a0001c0001t0004g0282 a0001c0001t0004g0287 a0001c0001t0004g0293 a0001c0001t0014g0249 a0001c0001t0014g0253 a0001c0001t0025g0251 a0001c0001t0027g0269	14	298	0.0470	36	c.791 others(53): Show c.791-2975_791-2974insAGGAGGGAGGGAGGGAGGGAAGGAGGGA GGGAGGGA		PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	6/8						chr4	TogoVar
PPP2R2D_chr10_131896008_131964834	131901020	C C	CCGGCGGC others(29): Show CCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01261.hp2 HG02004.hp2 HG01261.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0111 a0001c0001t0110 a0001c0001t0111	a0001c0001t0110g0100 a0001c0001t0111g0001 a0001c0001t0110g0100 a0001c0001t0111g0001	2	394	0.0051	36	c.-10 others(45): Show c.-103_-102insGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG		PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	1/9				102	INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R2D_chr10_131896008_131964834	131901029	G G	GCGGCGGC others(29): Show GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0056 a0001c0001t0096g0056	1	394	0.0025	36	c.-10 others(45): Show c.-103_-102insGCGGCGGCGGCGGCGGCGCCGGCGGCGGCGGCGGCG		PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	1/9				102	INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R2D_chr10_131896008_131964834	131916761	A A	AATGACAC others(29): Show AATGACACAGTGTTTGTAGGGACCTCAGGCGGGTGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00642.hp1 others(51): Show HG00099.hp1 HG00280.hp1 HG00642.hp1 HG00673.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01361.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01981.hp1 HG02055.hp1 HG02056.hp2 HG02129.hp2 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02559.hp2 HG02622.hp1 HG02717.hp2 HG02809.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp2 HG03130.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18957.hp2 NA18974.hp2 NA18986.hp2 NA18994.hp1 NA19030.hp1 NA19043.hp1 NA19067.hp1 NA19085.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 others(14): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0034 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0099 a0001c0001t0102 a0001c0001t0108 a0001c0003t0043	a0001c0001t0004g0003 a0001c0001t0004g0012 a0001c0001t0004g0057 others(44): Show a0001c0001t0004g0003 a0001c0001t0004g0012 a0001c0001t0004g0057 a0001c0001t0004g0067 a0001c0001t0004g0138 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0008g0011 a0001c0001t0008g0035 a0001c0001t0008g0063 a0001c0001t0008g0064 a0001c0001t0008g0068 a0001c0001t0008g0069 a0001c0001t0008g0070 a0001c0001t0008g0071 a0001c0001t0010g0004 a0001c0001t0010g0020 a0001c0001t0010g0021 a0001c0001t0010g0168 a0001c0001t0013g0058 a0001c0001t0013g0059 a0001c0001t0013g0060 a0001c0001t0013g0062 a0001c0001t0013g0161 a0001c0001t0034g0018 a0001c0001t0040g0193 a0001c0001t0041g0266 a0001c0001t0042g0159 a0001c0001t0068g0036 a0001c0001t0069g0012 a0001c0001t0070g0061 a0001c0001t0071g0052 a0001c0001t0072g0137 a0001c0001t0099g0003 a0001c0001t0102g0145 a0001c0001t0108g0131 a0001c0003t0043g0170	54	394	0.1371	36	c.100 others(55): Show c.100+15443_100+15444insTTGTAGGGACCTCAGGCGGGTGGGAT GACACAGTGT		PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R2D_chr10_131896008_131964834	131952568	C C	CTAGTGAC others(29): Show CTAGTGACTTGCGGGTGTGCGGGGGGGTTCATTGTCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00423.hp2 others(98): Show HG00099.hp1 HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01192.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG01952.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02280.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp2 HG02602.hp1 HG02647.hp1 HG02683.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG03041.hp2 HG03130.hp1 HG03225.hp2 HG03239.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 NA18941.hp2 NA18944.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp2 NA19054.hp2 NA19056.hp2 NA19060.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19080.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19090.hp2 NA20129.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0003c0004	a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 others(41): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0024 a0001c0001t0027 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0066 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0089 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0100 a0001c0001t0101 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0003t0043 a0001c0005t0018 a0002c0002t0001 a0003c0004t0113	a0001c0001t0003g0015 a0001c0001t0003g0074 a0001c0001t0003g0075 others(91): Show a0001c0001t0003g0015 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0136 a0001c0001t0003g0164 a0001c0001t0006g0047 a0001c0001t0006g0072 a0001c0001t0006g0076 a0001c0001t0006g0083 a0001c0001t0006g0085 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0006g0113 a0001c0001t0006g0115 a0001c0001t0006g0119 a0001c0001t0006g0135 a0001c0001t0006g0202 a0001c0001t0006g0347 a0001c0001t0010g0004 a0001c0001t0010g0020 a0001c0001t0010g0021 a0001c0001t0010g0168 a0001c0001t0011g0073 a0001c0001t0011g0077 a0001c0001t0011g0078 a0001c0001t0011g0080 a0001c0001t0011g0192 a0001c0001t0016g0022 a0001c0001t0016g0123 a0001c0001t0016g0125 a0001c0001t0017g0001 a0001c0001t0017g0013 a0001c0001t0017g0133 a0001c0001t0017g0257 a0001c0001t0018g0054 a0001c0001t0018g0055 a0001c0001t0020g0014 a0001c0001t0020g0111 a0001c0001t0020g0189 a0001c0001t0024g0049 a0001c0001t0024g0050 a0001c0001t0027g0120 a0001c0001t0027g0129 a0001c0001t0032g0017 a0001c0001t0033g0090 a0001c0001t0033g0134 a0001c0001t0035g0014 a0001c0001t0035g0112 a0001c0001t0036g0048 a0001c0001t0038g0121 a0001c0001t0039g0097 a0001c0001t0040g0193 a0001c0001t0066g0172 a0001c0001t0084g0098 a0001c0001t0085g0105 a0001c0001t0086g0122 a0001c0001t0089g0086 a0001c0001t0091g0166 a0001c0001t0092g0053 a0001c0001t0093g0165 a0001c0001t0095g0114 a0001c0001t0096g0056 a0001c0001t0097g0001 a0001c0001t0098g0096 a0001c0001t0100g0101 a0001c0001t0101g0126 a0001c0001t0103g0108 a0001c0001t0104g0001 a0001c0001t0105g0013 a0001c0001t0106g0087 a0001c0001t0107g0079 a0001c0001t0109g0169 a0001c0001t0110g0100 a0001c0001t0111g0001 a0001c0001t0112g0124 a0001c0003t0043g0170 a0001c0005t0018g0255 a0002c0002t0001g0220 a0002c0002t0001g0242 a0003c0004t0113g0103	101	394	0.2564	36	c.108 others(55): Show c.1083-3091_1083-3090insGTTCATTGTCTTAGTGACTTGCGGGT GTGCGGGGGG		PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R3B_chrX_328933_391907	379364	A A	ATGTGTGT others(29): Show ATGTGTGTGTGTATGTACCTGTGTATGCACCTATGTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02965.hp1 HG02630.hp2 HG02965.hp1	a0003 a0004 a0003 a0004	a0003c0013 a0004c0012 a0003c0013 a0004c0012	a0003c0013t0006 a0004c0012t0010 a0003c0013t0006 a0004c0012t0010	a0003c0013t0006g0025 a0004c0012t0010g0024 a0003c0013t0006g0025 a0004c0012t0010g0024	2	25	0.0800	36	c.324 others(53): Show c.324+7003_324+7004insCACATAGGTGCATACACAGGTACATACA CACACACA		PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12						chrX	TogoVar
PPP2R5C_chr14_101756709_101932977	101924445	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	138	0.0073	36	c.160 others(53): Show c.1609-684_1609-683insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT		PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP2R5E_chr14_63366364_63548377	63430373	G G	GCATACAT others(29): Show GCATACATACATACATACATACATGCATGCATACATA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	252	0.0040	36	c.355 others(53): Show c.355-8280_355-8279insTATGTATGCATGCATGTATGTATGTATG TATGTATG		PPP2R5E	ENSG00000154001.14	transcript	ENST00000337537.8	protein_coding	3/13						chr14	TogoVar
PPP4R3C_chrX_27455207_27468341	27458821	A A	ACCCGGCC others(29): Show ACCCGGCCACCCCGTATGGGAAGTGGGGAGCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	325	0.0031	36	c.19 others(47): Show c.1976_*1977insAGAGGCGCTCCCCACTTCCCATACGGGGTGGCCG GG		PPP4R3C	ENSG00000224960.5	transcript	ENST00000412172.4	protein_coding					1385		chrX	TogoVar
PPP5C_chr19_46342087_46395975	46389336	C C	CACACACA others(29): Show CACACACACACACACACACACACACACTCTCCAGCCT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01884.hp1 HG02258.hp2 others(6): Show HG01074.hp1 HG01884.hp1 HG02258.hp2 HG02615.hp2 HG02970.hp1 HG03130.hp1 HG03540.hp2 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0355 a0001c0001t0003g0356 a0001c0001t0003g0357 others(6): Show a0001c0001t0003g0355 a0001c0001t0003g0356 a0001c0001t0003g0357 a0001c0001t0003g0358 a0001c0001t0003g0359 a0001c0001t0003g0360 a0001c0001t0003g0361 a0001c0001t0003g0362 a0001c0001t0003g0363	9	394	0.0228	36	c.135 others(53): Show c.1355+605_1355+606insACACACACACACACACACACACACACTC TCCAGCCT		PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding	11/12						chr19	TogoVar
PPP6R1_chr19_55224779_55264017	55225293	C C	CCCAGCCC others(29): Show CCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00609.hp2 HG00735.hp1 others(54): Show HG00438.hp2 HG00609.hp2 HG00735.hp1 HG01074.hp1 HG01109.hp1 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01358.hp1 HG01358.hp2 HG01516.hp1 HG02055.hp1 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02273.hp1 HG02273.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18942.hp1 NA18946.hp1 NA18952.hp1 NA18961.hp2 NA18973.hp1 NA18986.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18998.hp1 NA19002.hp1 NA19006.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19076.hp2 NA19086.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0013 a0001c0001 a0001c0002 a0002c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 a0001c0002t0001 a0001c0002t0009 a0002c0013t0002	a0001c0001t0001g0041 a0001c0001t0001g0117 a0001c0001t0001g0291 others(48): Show a0001c0001t0001g0041 a0001c0001t0001g0117 a0001c0001t0001g0291 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0082 a0001c0001t0002g0087 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0174 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0272 a0001c0001t0002g0300 a0001c0001t0005g0303 a0001c0001t0005g0304 a0001c0001t0005g0305 a0001c0001t0005g0306 a0001c0001t0005g0307 a0001c0001t0015g0066 a0001c0002t0001g0016 a0001c0002t0001g0115 a0001c0002t0009g0325 a0001c0002t0009g0327 a0002c0013t0002g0294	57	378	0.1508	36	c.52 others(47): Show c.5234_*5235insAACCTGGACTCCTGGGTCTGAGGGAGGAGGGGCT GG		PPP6R1	ENSG00000105063.19	transcript	ENST00000412770.7	protein_coding					4485		chr19	TogoVar
PRAM1_chr19_8485056_8507640	8499451	C C	CGGCTTCT others(29): Show CGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00597.hp2 HG01070.hp2 HG02015.hp1 others(8): Show HG00597.hp2 HG01070.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02083.hp1 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02273.hp2 NA18983.hp2	a0007 a0027 a0037 others(1): Show a0007 a0027 a0037 a0038	a0007c0007 a0027c0033 a0037c0047 others(1): Show a0007c0007 a0027c0033 a0037c0047 a0038c0048	a0007c0007t0001 a0027c0033t0002 a0037c0047t0001 others(1): Show a0007c0007t0001 a0027c0033t0002 a0037c0047t0001 a0038c0048t0001	a0007c0007t0001g0010 a0007c0007t0001g0134 a0007c0007t0001g0140 others(4): Show a0007c0007t0001g0010 a0007c0007t0001g0134 a0007c0007t0001g0140 a0027c0033t0002g0203 a0027c0033t0002g0209 a0037c0047t0001g0141 a0038c0048t0001g0071	11	422	0.0261	36	c.321 others(43): Show c.321_356dupCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGCC	p.Pro others(49): Show p.Pro119_Ser120insProProProGluValThrAspLeuProLysLy sPro	PRAM1	ENSG00000133246.12	transcript	ENST00000423345.5	protein_coding	2/10	405/2195	356/2013	119/670			chr19	TogoVar
PRAM1_chr19_8485056_8507640	8499590	G G	GGCGGGGG others(29): Show GGCGGGGGCTTCTTGGGGAGGTCAGTGAACTGAGGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01884.hp2 HG01891.hp1 HG01891.hp2 others(24): Show HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02015.hp2 HG02071.hp1 HG02074.hp1 HG02129.hp2 HG02257.hp1 HG02451.hp1 HG02451.hp2 HG03453.hp2 HG03516.hp1 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18954.hp1 NA18955.hp2 NA18962.hp1 NA18966.hp1 NA18968.hp1 NA18981.hp1 NA18982.hp2 NA18993.hp1 NA19004.hp1 NA19054.hp2	a0003 a0008 a0032 others(1): Show a0003 a0008 a0032 a0052	a0003c0003 a0008c0016 a0008c0071 others(4): Show a0003c0003 a0008c0016 a0008c0071 a0008c0084 a0008c0085 a0032c0032 a0052c0063	a0003c0003t0002 a0008c0016t0002 a0008c0016t0004 others(5): Show a0003c0003t0002 a0008c0016t0002 a0008c0016t0004 a0008c0071t0002 a0008c0084t0002 a0008c0085t0002 a0032c0032t0002 a0052c0063t0001	a0003c0003t0002g0009 a0003c0003t0002g0219 a0003c0003t0002g0220 others(19): Show a0003c0003t0002g0009 a0003c0003t0002g0219 a0003c0003t0002g0220 a0003c0003t0002g0221 a0003c0003t0002g0222 a0003c0003t0002g0223 a0003c0003t0002g0224 a0003c0003t0002g0225 a0003c0003t0002g0226 a0003c0003t0002g0227 a0003c0003t0002g0238 a0003c0003t0002g0239 a0003c0003t0002g0241 a0008c0016t0002g0250 a0008c0016t0004g0199 a0008c0016t0004g0202 a0008c0071t0002g0188 a0008c0084t0002g0191 a0008c0085t0002g0194 a0032c0032t0002g0192 a0032c0032t0002g0193 a0052c0063t0001g0111	27	422	0.0640	36	c.217 others(43): Show c.217_218insAGCCTCAGTTCACTGACCTCCCCAAGAAGCCCCCGC	p.Pro others(47): Show p.Pro72_Pro73insGlnProGlnPheThrAspLeuProLysLysProP ro	PRAM1	ENSG00000133246.12	transcript	ENST00000423345.5	protein_coding	2/10	266/2195	217/2013	73/670			chr19	TogoVar
PRAMEF14_chr1_13336892_13352134	13349251	A A	AGAAGAAA others(29): Show AGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	256	0.0039	36	c.-22 others(47): Show c.-2221_-2220insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TC		PRAMEF14	ENSG00000204481.8	transcript	ENST00000334600.7	protein_coding					2118		chr1	TogoVar
PRAMEF1_chr1_12786397_12801628	12801067	T T	TTTGTTTA others(29): Show TTTGTTTATTTTTGTTATGTGTTTATTTTTATTACTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0001 a0009c0011t0001g0001	1	382	0.0026	36	c.50 others(47): Show c.5071_*5072insTTGTTTATTTTTGTTATGTGTTTATTTTTATTAC TG		PRAMEF1	ENSG00000116721.9	transcript	ENST00000332296.7	protein_coding					4440		chr1	TogoVar
PRAME_chr22_22542701_22564265	22557968	A A	AAGACAGG others(29): Show AAGACAGGGTGGGGGAGGGGTGGGCATGGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	399	0.0025	36	c.-11 others(53): Show c.-113-389_-113-388insCCCTTCCCCCATGCCCACCCCTCCCCCA CCCTGTCT		PRAME	ENSG00000185686.18	transcript	ENST00000405655.8	protein_coding	1/5						chr22	TogoVar
PRCC_chr1_156762535_156805815	156792053	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0043 a0008c0009t0001g0043	1	350	0.0029	36	c.117 others(53): Show c.1179+289_1179+290insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT		PRCC	ENSG00000143294.15	transcript	ENST00000271526.9	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM12_chr9_130659594_130687983	130680659	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0129 a0001c0002t0002g0129	1	392	0.0026	36	c.683 others(51): Show c.683-588_683-587insATATATATATATATATATATATATATATAT ATTTTT		PRDM12	ENSG00000130711.5	transcript	ENST00000253008.3	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr9	TogoVar
PRDM12_chr9_130659594_130687983	130680659	A A	ATATATAT others(29): Show ATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0045 a0002c0001t0004g0045	1	392	0.0026	36	c.683 others(51): Show c.683-588_683-587insATATATATATATATATATATATTTTTTTTT TTTTTT		PRDM12	ENSG00000130711.5	transcript	ENST00000253008.3	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr9	TogoVar
PRDM12_chr9_130659594_130687983	130680659	A A	ATATATAT others(29): Show ATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0243 a0001c0003t0004g0243	1	392	0.0026	36	c.683 others(51): Show c.683-588_683-587insATATATATATATATATATATTTTTTTTTTT TTTTTT		PRDM12	ENSG00000130711.5	transcript	ENST00000253008.3	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr9	TogoVar
PRDM15_chr21_41793225_41884344	41805777	A A	ACACCAAC others(29): Show ACACCAACACCACCACCACCAACACAACCACCTCCAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02615.hp2 HG01261.hp1 HG02615.hp2	a0001 a0005 a0001 a0005	a0001c0003 a0005c0042 a0001c0003 a0005c0042	a0001c0003t0001 a0005c0042t0008 a0001c0003t0001 a0005c0042t0008	a0001c0003t0001g0026 a0005c0042t0008g0165 a0001c0003t0001g0026 a0005c0042t0008g0165	2	406	0.0049	36	c.265 others(55): Show c.2653-1199_2653-1164dupATGGAGGTGGTTGTGTTGGTGGTGGT GGTGTTGGTG		PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23						chr21	TogoVar
PRDM15_chr21_41793225_41884344	41845132	G G	GACACACA others(29): Show GACACACACACACAGCCCCTCCCCCCCTCACAGGGAC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0127 a0001c0005t0007g0127	1	406	0.0025	36	c.640 others(53): Show c.640+1922_640+1957dupGTCCCTGTGAGGGGGGGAGGGGCTGTGT GTGTGTGT		PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	6/23						chr21	TogoVar
PRDX3_chr10_119162720_119183812	119180529	T T	TTGCAAAA others(29): Show TTGCAAAATTAGCCGGGCATGCAAAATTAGCTGGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	426	0.0024	36	c.-17 others(47): Show c.-1740_-1739insTGCCCAGCTAATTTTGCATGCCCGGCTAATTTTG CA		PRDX3	ENSG00000165672.7	transcript	ENST00000298510.4	protein_coding					1718		chr10	TogoVar
PRELID2_chr5_145751344_145840342	145821152	G G	GGTGTGTG others(29): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp2 HG02886.hp2 others(4): Show HG02145.hp1 HG02486.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG03516.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0062	a0001c0001t0001g0010 a0001c0001t0001g0177 a0001c0001t0001g0178 others(4): Show a0001c0001t0001g0010 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0003g0160 a0001c0001t0007g0185 a0001c0001t0008g0119 a0001c0001t0062g0009	7	258	0.0271	36	c.134 others(53): Show c.134-1135_134-1134insACACACACACACACACACACACACACAC ACACACAC		PRELID2	ENSG00000186314.12	transcript	ENST00000683046.1	protein_coding	2/6						chr5	TogoVar
PREP_chr6_105268218_105408082	105371500	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0170 a0001c0004t0008g0170	1	212	0.0047	36	c.595 others(53): Show c.595+1868_595+1869insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT		PREP	ENSG00000085377.15	transcript	ENST00000652536.2	protein_coding	5/14						chr6	TogoVar
PREX1_chr20_48619252_48832999	48659262	A A	AAGGAAGG others(29): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03669.hp2 HG02717.hp1 HG03669.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0009 a0002c0002 a0006c0009	a0002c0002t0003 a0006c0009t0001 a0002c0002t0003 a0006c0009t0001	a0002c0002t0003g0188 a0006c0009t0001g0040 a0002c0002t0003g0188 a0006c0009t0001g0040	2	268	0.0075	36	c.188 others(53): Show c.1881+656_1881+657insCCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCT		PREX1	ENSG00000124126.14	transcript	ENST00000371941.4	protein_coding	16/39						chr20	TogoVar
PREX1_chr20_48619252_48832999	48810812	G G	GGGAGGCA others(29): Show GGGAGGCAGGGGCTGCAGTGAGCTGAGATCGCACCAC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	268	0.0037	36	c.219 others(55): Show c.219+16794_219+16829dupGTGGTGCGATCTCAGCTCACTGCAGC CCCTGCCTCC		PREX1	ENSG00000124126.14	transcript	ENST00000371941.4	protein_coding	1/39						chr20	TogoVar
PRG2_chr11_57381780_57395650	57395258	T T	TTCTAATC others(29): Show TTCTAATCAGGGTGATGCCCATAAAAGAAGTATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	404	0.0025	36	c.-46 others(47): Show c.-4676_-4675insTATAATACTTCTTTTATGGGCATCACCCTGATTA GA		PRG2	ENSG00000186652.10	transcript	ENST00000311862.10	protein_coding					4609		chr11	TogoVar
PRICKLE1_chr12_42451757_42594746	42517965	G G	GTTTATAA others(29): Show GTTTATAATTCCAGGTTTATAATTCCAGGTTTATAAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0030 a0004c0007t0030	a0004c0007t0030g0087 a0004c0007t0030g0087	1	300	0.0033	36	c.-48 others(55): Show c.-48-45402_-48-45401insATTATAAACCTGGAATTATAAACCTG GAATTATAAA		PRICKLE1	ENSG00000139174.12	transcript	ENST00000345127.9	protein_coding	1/7						chr12	TogoVar
PRIMPOL_chr4_184644738_184699952	184651290	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0054 a0003c0003t0001g0054	1	328	0.0031	36	c.-13 others(53): Show c.-137-725_-137-724insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA		PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
PRKACA_chr19_14086688_14122762	14109999	T T	TATATATA others(29): Show TATATATATACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	358	0.0028	36	c.47- others(51): Show c.47-2591_47-2590insGTGTGTGTGTGTGTGTGTGTGTGTGTGTAT ATATAT		PRKACA	ENSG00000072062.16	transcript	ENST00000308677.9	protein_coding	1/9						chr19	TogoVar
PRKACB_chr1_84139271_84243498	84180183	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	320	0.0031	36	c.249 others(51): Show c.249+971_249+972insATATATATATATATATATATATATATATAT ATATAT		PRKACB	ENSG00000142875.21	transcript	ENST00000370685.7	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAG2_chr7_151551127_151882115	151795876	T T	TATATATA others(29): Show TATATATATATATACACATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0247 a0001c0001t0004g0247	1	252	0.0040	36	c.115 others(53): Show c.115-9336_115-9335insGTGTATATATATATATATATGTGTATAT ATATATAT		PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15						chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151872375	A A	ATTCCCAT others(29): Show ATTCCCATGGAATGCTGTTTTCTTTACCTTTAATGGC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0001 a0001c0001t0017g0001	1	252	0.0040	36	c.114 others(53): Show c.114+4096_114+4131dupGCCATTAAAGGTAAAGAAAACAGCATTC CATGGGAA		PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15						chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151874183	T T	TATGTATA others(29): Show TATGTATATGTATATGATGTATATGTATATGTATATG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00673.hp1 others(21): Show HG00140.hp2 HG00408.hp2 HG00673.hp1 HG01106.hp2 HG01257.hp1 HG01261.hp1 HG01496.hp2 HG01934.hp1 HG02040.hp1 HG02135.hp1 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18950.hp2 NA18955.hp2 NA18962.hp2 NA18971.hp2 NA18998.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19060.hp1 NA19074.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0007c0013 a0001c0001 a0001c0003 a0007c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0007c0013t0001	a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 others(21): Show a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0003g0097 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0003t0001g0185 a0007c0013t0001g0208	24	252	0.0952	36	c.114 others(53): Show c.114+2288_114+2323dupCATATACATATACATATACATCATATAC ATATACAT		PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15						chr7	TogoVar
PRKAR1A_chr17_68507430_68538431	68536537	A A	AGGGGGGG others(29): Show AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0005 a0001c0001t0018g0005	1	412	0.0024	36	c.60 others(47): Show c.6088_*6089insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GG		PRKAR1A	ENSG00000108946.17	transcript	ENST00000589228.6	protein_coding					3107		chr17	TogoVar
PRKAR2A_chr3_48741586_48852874	48829590	A A	ATATACAC others(29): Show ATATACACACACATAAATGTGTGTGTGTATACGTGTG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02818.hp1 HG02300.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0023 a0001c0001t0003 a0001c0001t0023	a0001c0001t0003g0013 a0001c0001t0023g0007 a0001c0001t0003g0013 a0001c0001t0023g0007	2	166	0.0121	36	c.262 others(55): Show c.262+17709_262+17744dupCACACGTATACACACACACATTTATG TGTGTGTATA		PRKAR2A	ENSG00000114302.17	transcript	ENST00000265563.13	protein_coding	1/10						chr3	TogoVar

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