JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PPP2R5D_chr6_42979570_43017342	42995126	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02965.hp1 HG03579.hp2 others(1): Show HG02257.hp2 HG02965.hp1 HG03579.hp2 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0222 a0001c0001t0001g0223 others(1): Show a0001c0001t0001g0166 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0228	4	306	0.0131	17	c.105 others(34): Show c.105+5443_105+5459dupTTTTTTTTTTTTTTTTT	PPP2R5D	ENSG00000112640.16	transcript	ENST00000485511.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP2R5D_chr6_42979570_43017342	42998055	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	306	0.0033	17	c.105 others(34): Show c.105+8368_105+8369insTTTTTTTTTTTTTTTTT	PPP2R5D	ENSG00000112640.16	transcript	ENST00000485511.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP2R5D_chr6_42979570_43017342	43000236	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01099.hp2 HG02055.hp1 others(9): Show HG00741.hp2 HG01099.hp2 HG02055.hp1 HG02647.hp1 HG02683.hp2 HG02809.hp1 HG03516.hp2 NA18522.hp1 NA18952.hp2 NA19011.hp2 NA19081.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0254 others(6): Show a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0254 a0001c0001t0001g0264 a0001c0001t0001g0269 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0238 a0001c0001t0002g0239	12	306	0.0392	17	c.106 others(34): Show c.106-6224_106-6208dupTTTTTTTTTTTTTTTTT	PPP2R5D	ENSG00000112640.16	transcript	ENST00000485511.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP2R5E_chr14_63366364_63548377	63374634	G G	GATTATAT others(10): Show GATTATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp2 HG02647.hp1 HG02818.hp2 others(5): Show HG01243.hp2 HG02647.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0052 a0001c0001t0057 others(4): Show a0001c0001t0019 a0001c0001t0052 a0001c0001t0057 a0001c0001t0061 a0001c0001t0080 a0001c0001t0081 a0001c0001t0086	a0001c0001t0019g0070 a0001c0001t0019g0071 a0001c0001t0052g0086 others(5): Show a0001c0001t0019g0070 a0001c0001t0019g0071 a0001c0001t0052g0086 a0001c0001t0057g0073 a0001c0001t0061g0087 a0001c0001t0080g0146 a0001c0001t0081g0167 a0001c0001t0086g0239	8	252	0.0318	17	c.13 others(28): Show c.1374_*1375insATATATATATATATAAT	PPP2R5E	ENSG00000154001.14	transcript	ENST00000337537.8	protein_coding	14/14	1374		chr14	TogoVar
PPP3CA_chr4_101018418_101352526	101106373	A A	AAAAGAAA others(10): Show AAAAGAAAGAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0051 a0001c0001t0018g0052 a0001c0001t0018g0051 a0001c0001t0018g0052	2	192	0.0104	17	c.384 others(34): Show c.384+2580_384+2581insCTTTCTTTTCTTTCTTT	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	3/13			chr4	TogoVar
PPP3CA_chr4_101018418_101352526	101106456	A A	AGAAAGAA others(10): Show AGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0108 a0001c0004t0011g0108	1	192	0.0052	17	c.384 others(34): Show c.384+2497_384+2498insCTTTCTTTCTTTCTTTC	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	3/13			chr4	TogoVar
PPP3CA_chr4_101018418_101352526	101278122	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02965.hp2 HG01884.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0013 a0001c0001t0009g0014 a0001c0001t0009g0013 a0001c0001t0009g0014	2	192	0.0104	17	c.58+ others(34): Show c.58+68600_58+68616dupTTTTTTTTTTTTTTTTT	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	1/13			chr4	TogoVar
PPP3CA_chr4_101018418_101352526	101324150	G G	GAAGGAAG others(10): Show GAAGGAAGGGAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0117 a0001c0002t0013g0117	1	192	0.0052	17	c.58+ others(34): Show c.58+22588_58+22589insTCCTTCCTCCCTTCCTT	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	1/13			chr4	TogoVar
PPP3CC_chr8_22436078_22546125	22489650	A A	AATAAGTA others(10): Show AATAAGTATATATTATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00733.hp2 others(35): Show HG00438.hp1 HG00597.hp1 HG00733.hp2 HG02027.hp2 HG02071.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03834.hp1 NA18906.hp2 NA18945.hp1 NA18956.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19065.hp1 NA19081.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0002c0002t0003	a0001c0001t0003g0001 a0001c0001t0003g0009 a0001c0001t0003g0010 others(33): Show a0001c0001t0003g0001 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0046 a0001c0001t0003g0048 a0001c0001t0003g0086 a0001c0001t0004g0002 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0322 a0001c0001t0009g0056 a0001c0001t0009g0057 a0001c0001t0009g0059 a0002c0002t0003g0005 a0002c0002t0003g0006 a0002c0002t0003g0007 a0002c0002t0003g0008	38	326	0.1166	17	c.373 others(34): Show c.373-8314_373-8298dupAAGTATATATTATATAT	PPP3CC	ENSG00000120910.15	transcript	ENST00000240139.10	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP3CC_chr8_22436078_22546125	22489660	T T	TATTATAT others(10): Show TATTATATATAAGTATAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0038	1	326	0.0031	17	c.373 others(34): Show c.373-8325_373-8324insGATTATATATAAGTATA	PPP3CC	ENSG00000120910.15	transcript	ENST00000240139.10	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP3CC_chr8_22436078_22546125	22496485	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	326	0.0031	17	c.373 others(34): Show c.373-1502_373-1486dupTTTTTTTTTTTTTTTTT	PPP3CC	ENSG00000120910.15	transcript	ENST00000240139.10	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP3CC_chr8_22436078_22546125	22530829	C C	CAAACAAA others(10): Show CAAACAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18522.hp2 HG03225.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0047 a0001c0001t0003g0050 a0001c0001t0003g0047 a0001c0001t0003g0050	2	326	0.0061	17	c.114 others(36): Show c.1142-1393_1142-1392insCAAAAAAAAAAAAAAAA	PPP3CC	ENSG00000120910.15	transcript	ENST00000240139.10	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP3R1_chr2_68173857_68257532	68198062	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0012 a0001c0002t0009g0012	1	398	0.0025	17	c.44- others(32): Show c.44-9389_44-9373dupTTTTTTTTTTTTTTTTT	PPP3R1	ENSG00000221823.11	transcript	ENST00000234310.8	protein_coding	2/5			chr2	TogoVar
PPP3R1_chr2_68173857_68257532	68209358	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18990.hp2 NA18979.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0228 a0001c0001t0001g0233	2	398	0.0050	17	c.43+ others(32): Show c.43+7717_43+7733dupTTTTTTTTTTTTTTTTT	PPP3R1	ENSG00000221823.11	transcript	ENST00000234310.8	protein_coding	2/5			chr2	TogoVar
PPP4R3A_chr14_91452508_91515310	91468667	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02015.hp1 HG02818.hp2 others(1): Show HG01517.hp1 HG02015.hp1 HG02818.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0245 a0001c0001t0001g0351 a0001c0001t0001g0352 others(1): Show a0001c0001t0001g0245 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0003t0001g0353	4	370	0.0108	17	c.166 others(36): Show c.1660+2153_1660+2169dupTTTTTTTTTTTTTTTTT	PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	10/14			chr14	TogoVar
PPP4R3A_chr14_91452508_91515310	91507371	A A	ATAGTATA others(10): Show ATAGTATATATACTATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02976.hp2 HG02647.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0057 a0001c0001t0002g0035 a0001c0001t0002g0057	2	370	0.0054	17	c.142 others(34): Show c.142+2134_142+2135insATATAGTATATATACTA	PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	1/14			chr14	TogoVar
PPP4R3B_chr2_55542292_55622622	55615857	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03486.hp1 HG03579.hp2 HG02630.hp1 HG03486.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170	3	382	0.0079	17	c.143 others(32): Show c.143-368_143-352dupTTTTTTTTTTTTTTTTT	PPP4R3B	ENSG00000275052.5	transcript	ENST00000616407.2	protein_coding	1/16			chr2	TogoVar
PPP5C_chr19_46342087_46395975	46343508	T T	TTTTCCTT others(10): Show TTTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0364 a0001c0001t0003g0364	1	394	0.0025	17	c.-35 others(28): Show c.-3589_-3588insTTTCCTTCCTTCCTTCC	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding		3578		chr19	TogoVar
PPP5C_chr19_46342087_46395975	46389484	C C	CGAATCCT others(10): Show CGAATCCTGCCAAGTTCT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0365 a0001c0009t0001g0365	1	394	0.0025	17	c.135 others(34): Show c.1356-566_1356-550dupGAATCCTGCCAAGTTCT	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPP5C_chr19_46342087_46395975	46395633	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03834.hp2 NA18962.hp1 HG03710.hp2 HG03834.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0285 a0001c0003t0001g0311 a0001c0003t0001g0312 a0001c0001t0001g0285 a0001c0003t0001g0311 a0001c0003t0001g0312	3	394	0.0076	17	c.52 others(28): Show c.5287_*5288insAAAAAAAAAAAAAAAAA	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding		4659		chr19	TogoVar
PPP6C_chr9_125141573_125194803	125167379	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0368 a0001c0001t0004g0368	1	394	0.0025	17	c.171 others(34): Show c.171+3689_171+3705dupTTTTTTTTTTTTTTTTT	PPP6C	ENSG00000119414.12	transcript	ENST00000373547.9	protein_coding	2/6			chr9	TogoVar
PPP6C_chr9_125141573_125194803	125167389	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0358 a0001c0001t0006g0358	1	394	0.0025	17	c.171 others(34): Show c.171+3695_171+3696insCTTTTTTTTTTTTTTTT	PPP6C	ENSG00000119414.12	transcript	ENST00000373547.9	protein_coding	2/6			chr9	TogoVar
PPP6R2_chr22_50338327_50450090	50344491	G G	GCCCCCTC others(10): Show GCCCCCTCTAGTCAGTTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0009 a0009	a0009c0030 a0009c0030	a0009c0030t0027 a0009c0030t0027	a0009c0030t0027g0069 a0009c0030t0027g0069	1	340	0.0029	17	c.-14 others(34): Show c.-148+946_-148+947insTCTAGTCAGTTCCCCCC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R3_chr11_68455752_68620334	68477741	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0177 a0001c0001t0016g0177	1	252	0.0040	17	c.-15 others(38): Show c.-158+16915_-158+16916insAAAAAAATATATATATA	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68477741	A A	AAATATAT others(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02165.hp2 HG01081.hp1 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0213 a0001c0001t0002g0003 a0001c0001t0002g0213	2	252	0.0079	17	c.-15 others(38): Show c.-158+16915_-158+16916insATATATATATATATATA	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68506414	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA19080.hp1 NA18965.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0002g0183 a0001c0001t0002g0186	2	252	0.0079	17	c.-15 others(38): Show c.-157-13069_-157-13053dupAAAAAAAAAAAAAAAAA	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68508121	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0023 a0002c0002t0007g0023	1	252	0.0040	17	c.-15 others(38): Show c.-157-11371_-157-11355dupTTTTTTTTTTTTTTTTT	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68542389	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	252	0.0040	17	c.228 others(34): Show c.228-2443_228-2427dupTTTTTTTTTTTTTTTTT	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68573154	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	252	0.0040	17	c.134 others(34): Show c.1344-955_1344-954insTATATATATATATATAT	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	12/23			chr11	TogoVar
PPT1_chr1_40067712_40102252	40089286	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00597.hp2 others(67): Show HG00408.hp2 HG00423.hp1 HG00597.hp2 HG00735.hp2 HG01074.hp2 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01433.hp1 HG01978.hp1 HG01993.hp1 HG02055.hp1 HG02074.hp2 HG02083.hp1 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02523.hp1 HG02738.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03540.hp2 HG03654.hp2 HG03927.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18988.hp1 NA18994.hp2 NA18999.hp2 NA19006.hp2 NA19007.hp1 NA19011.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0002c0002t0003 a0003c0003t0003	a0001c0001t0001g0024 a0001c0001t0001g0075 a0001c0001t0001g0114 others(45): Show a0001c0001t0001g0024 a0001c0001t0001g0075 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0002g0008 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0130 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0228 a0001c0001t0004g0060 a0001c0001t0004g0248 a0001c0001t0004g0251 a0001c0001t0005g0061 a0001c0001t0005g0142 a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0005g0145 a0001c0001t0005g0146 a0001c0001t0005g0157 a0002c0002t0003g0058 a0002c0002t0003g0225 a0003c0003t0003g0136	70	396	0.1768	17	c.536 others(32): Show c.536+123_536+124insTTTTTTTTTTTTTTTTT	PPT1	ENSG00000131238.18	transcript	ENST00000642050.2	protein_coding	5/8			chr1	TogoVar
PPWD1_chr5_65558296_65592549	65573476	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00733.hp2 HG00735.hp1 others(16): Show HG00438.hp1 HG00733.hp2 HG00735.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01167.hp1 HG02071.hp2 HG02818.hp2 NA18946.hp2 NA18969.hp1 NA18983.hp2 NA18991.hp2 NA19006.hp1 NA19012.hp2 NA19059.hp2 NA19074.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0027 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0264 a0001c0003t0001g0029	19	384	0.0495	17	c.969 others(34): Show c.969+1190_969+1191insATATATATATATATATA	PPWD1	ENSG00000113593.12	transcript	ENST00000261308.10	protein_coding	5/10			chr5	TogoVar
PPWD1_chr5_65558296_65592549	65573516	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0219 a0001c0002t0001g0219	1	384	0.0026	17	c.969 others(34): Show c.969+1251_969+1267dupTTTTTTTTTTTTTTTTT	PPWD1	ENSG00000113593.12	transcript	ENST00000261308.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPWD1_chr5_65558296_65592549	65591645	T T	TATATATA others(10): Show TATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	384	0.0026	17	c.42 others(28): Show c.4249_*4250insATATATATATATATATA	PPWD1	ENSG00000113593.12	transcript	ENST00000261308.10	protein_coding		4097		chr5	TogoVar
PRAMEF14_chr1_13336892_13352134	13349217	A A	AAAGAAAG others(10): Show AAAGAAAGAAAGAAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	256	0.0039	17	c.-21 others(28): Show c.-2187_-2186insCTCTTTCTTTCTTTCTT	PRAMEF14	ENSG00000204481.8	transcript	ENST00000334600.7	protein_coding		2084		chr1	TogoVar
PRAMEF14_chr1_13336892_13352134	13349251	A A	AGAAAGAA others(10): Show AGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	1	256	0.0039	17	c.-22 others(28): Show c.-2221_-2220insCTTTCTTTCTTTCTTTC	PRAMEF14	ENSG00000204481.8	transcript	ENST00000334600.7	protein_coding		2118		chr1	TogoVar
PRAMEF20_chr1_13405450_13426328	13417929	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0122 a0002c0003t0001g0122	1	442	0.0023	17	c.288 others(32): Show c.288-177_288-176insCGTGTGTGTGTGTGTGT	PRAMEF20	ENSG00000204478.11	transcript	ENST00000602960.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRAMEF2_chr1_12852086_12866909	12855223	C C	CGGAGCCT others(10): Show CGGAGCCTGGCCTGTCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	338	0.0030	17	c.-19 others(28): Show c.-1950_-1949insGGAGCCTGGCCTGTCTA	PRAMEF2	ENSG00000120952.4	transcript	ENST00000240189.2	protein_coding		1862		chr1	TogoVar
PRCC_chr1_156762535_156805815	156774157	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01175.hp1 HG01099.hp2 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0163 a0001c0001t0001g0164	2	350	0.0057	17	c.468 others(34): Show c.468+5938_468+5954dupTTTTTTTTTTTTTTTTT	PRCC	ENSG00000143294.15	transcript	ENST00000271526.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRCC_chr1_156762535_156805815	156795285	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTGTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01256.hp2 others(3): Show HG01070.hp2 HG01071.hp1 HG01256.hp2 HG01433.hp2 HG01952.hp2 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0273 a0001c0001t0001g0274 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0282 a0001c0001t0001g0297	6	350	0.0171	17	c.132 others(34): Show c.1323+490_1323+491insGTTTTTTTTTTTTTTTT	PRCC	ENSG00000143294.15	transcript	ENST00000271526.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRCC_chr1_156762535_156805815	156795285	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02083.hp2 HG02615.hp1 others(4): Show HG00609.hp2 HG02083.hp2 HG02615.hp1 HG02622.hp1 HG03834.hp1 NA19070.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0278 a0001c0001t0001g0284 a0001c0001t0001g0305 others(4): Show a0001c0001t0001g0278 a0001c0001t0001g0284 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0006g0303	7	350	0.0200	17	c.132 others(34): Show c.1323+485_1323+501dupTTTTTTTTTTTTTTTTT	PRCC	ENSG00000143294.15	transcript	ENST00000271526.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM12_chr9_130659594_130687983	130680634	A A	AAATATAT others(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG04228.hp2 HG00733.hp1 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0076 a0001c0002t0002g0114 a0001c0002t0002g0076 a0001c0002t0002g0114	2	392	0.0051	17	c.683 others(32): Show c.683-613_683-612insATATATATATATATATA	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(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA19007.hp2 NA18942.hp1 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0005t0002 a0001c0002t0002 a0001c0005t0002	a0001c0002t0002g0028 a0001c0005t0002g0144 a0001c0002t0002g0028 a0001c0005t0002g0144	2	392	0.0051	17	c.683 others(32): Show c.683-588_683-587insATATATATATATATTTT	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(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0140 a0001c0002t0002g0140	1	392	0.0026	17	c.683 others(32): Show c.683-588_683-587insATATATATATATTTTTT	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(10): Show ATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0165 a0001c0005t0002g0165	1	392	0.0026	17	c.683 others(32): Show c.683-588_683-587insATATATATATTTTTTTT	PRDM12	ENSG00000130711.5	transcript	ENST00000253008.3	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRDM12_chr9_130659594_130687983	130680659	A A	ATATATTT others(10): Show ATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0096 a0001c0002t0002g0096	1	392	0.0026	17	c.683 others(32): Show c.683-588_683-587insATATTTTTTTTTTTTTT	PRDM12	ENSG00000130711.5	transcript	ENST00000253008.3	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRDM12_chr9_130659594_130687983	130680660	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0113 a0001c0002t0002g0121 a0001c0002t0002g0113 a0001c0002t0002g0121	2	392	0.0051	17	c.683 others(32): Show c.683-588_683-587insATATATATATATATATA	PRDM12	ENSG00000130711.5	transcript	ENST00000253008.3	protein_coding	4/4			chr9	TogoVar
PRDM12_chr9_130659594_130687983	130686842	G G	GGTTTTAC others(10): Show GGTTTTACCATGTGTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0053 a0003c0004t0001g0053	1	392	0.0026	17	c.51 others(28): Show c.5173_*5174insGTTTTACCATGTGTTTT	PRDM12	ENSG00000130711.5	transcript	ENST00000253008.3	protein_coding		3860		chr9	TogoVar
PRDM15_chr21_41793225_41884344	41856106	T T	TTCCCTCC others(10): Show TTCCCTCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0177 a0001c0003t0001g0177	1	406	0.0025	17	c.285 others(34): Show c.285+1069_285+1070insGGGAGGGGAGGGAGGGA	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	4/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41874525	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0160 a0001c0001t0017g0160	1	406	0.0025	17	c.-10 others(34): Show c.-10+4744_-10+4745insAAAAAAAAATATATATA	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	1/23			chr21	TogoVar
PRDM16_chr1_3064203_3443621	3314071	C C	CGGGGGGG others(10): Show CGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0062 a0001c0001t0087g0062	1	210	0.0048	17	c.438 others(36): Show c.438+69945_438+69946insGGGGGGGGGGGGGGGGG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar

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