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
PMM1_chr22_41571900_41594840	41594378	T T	TGGGGGGG others(36): Show TGGGGGGGGTGGGGGAGGCGGTGGGGGGGGTGGGGGAGGCGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	330	0.0030	43	c.-45 others(54): Show c.-4574_-4573insCACCGCCTCCCCCACCCCCCCCACCGCCTCCCCC ACCCCCCCC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4539		chr22	TogoVar
PMM1_chr22_41571900_41594840	41594378	T T	TGGGGGGG others(36): Show TGGGGGGGTGGGGGGAGGCGGTGGGGGGGTGGGGGAGGCGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	43	c.-45 others(54): Show c.-4574_-4573insCCACCGCCTCCCCCACCCCCCCACCGCCTCCCCC CACCCCCCC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4539		chr22	TogoVar
PNMA8C_chr19_46419697_46433936	46425080	T T	TTGTGCTT others(36): Show TTGTGCTTATTGTGGATTTCAGGGGTATAACATTTATATTTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0000 a0001c0001t0043g0000	1	442	0.0023	43	c.26 others(54): Show c.2664_*2665insCACAAATATAAATGTTATACCCCTGAAATCCACA ATAAGCACA	PNMA8C	ENSG00000277531.3	transcript	ENST00000617053.3	protein_coding	1/1	2664		chr19	TogoVar
PODXL_chr7_131495271_131561628	131558478	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0026 a0026	a0026c0042 a0026c0042	a0026c0042t0001 a0026c0042t0001	a0026c0042t0001g0026 a0026c0042t0001g0026	1	440	0.0023	43	c.-21 others(54): Show c.-2120_-2119insATATATATATATATATATATATATATATATATAT ATATATATA	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding		1851		chr7	TogoVar
PODXL_chr7_131495271_131561628	131558478	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0009 a0009	a0009c0041 a0009c0041	a0009c0041t0002 a0009c0041t0002	a0009c0041t0002g0029 a0009c0041t0002g0029	1	440	0.0023	43	c.-21 others(54): Show c.-2120_-2119insAAAAAAATATATATATATATATATATATATATAT ATATATATA	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding		1851		chr7	TogoVar
POLA1_chrX_24688918_25001986	24871823	G G	GACTAATT others(36): Show GACTAATTTCCCAAATATAAAAGGAGCTATTTTAATATTTAGTC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	197	0.0051	43	c.404 others(64): Show c.4048-16181_4048-16139dupCTAATTTCCCAAATATAAAAGGAG CTATTTTAATATTTAGTCA	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	34/36		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLDIP2_chr17_28341633_28362527	28353520	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02280.hp2 HG03710.hp2 HG00609.hp1 HG02280.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0173 a0001c0001t0002g0044 a0001c0001t0002g0173	3	340	0.0088	43	c.438 others(58): Show c.438+174_438+175insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	POLDIP2	ENSG00000004142.12	transcript	ENST00000540200.6	protein_coding	4/10			chr17	TogoVar
POLR3C_chr1_145819200_145849402	145842809	A A	AGATAGAT others(36): Show AGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03225.hp2 HG03486.hp2 HG03225.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0031 a0001c0001t0026 a0001c0001t0031	a0001c0001t0026g0053 a0001c0001t0031g0059 a0001c0001t0026g0053 a0001c0001t0031g0059	2	368	0.0054	43	c.39 others(52): Show c.397_*398insGATAGATAGATAGATAGATAGATAGATAGATAGATG ATAGATA	POLR3C	ENSG00000186141.10	transcript	ENST00000334163.4	protein_coding	15/15	398	INFO_REALIGN_3_PRIME	chr1	TogoVar
POLRMT_chr19_612221_638537	620966	G G	GGGGCGCG others(36): Show GGGGCGCGGGGGCGCCGGGGGAGGGCGCGGGGGCGCCGGGGGGA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0311 a0002c0003t0003g0311	1	422	0.0024	43	c.264 others(58): Show c.2640+91_2640+92insTCCCCCCGGCGCCCCCGCGCCCTCCCCCGG CGCCCCCGCGCCC	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	10/20			chr19	TogoVar
PON3_chr7_95354872_95401375	95388080	C C	CTTCATGA others(36): Show CTTCATGACTAAAACACCAAAAGCAATGGCAACAAAAGCCAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02155.hp1 HG02280.hp2 others(12): Show HG02129.hp1 HG02155.hp1 HG02280.hp2 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG03195.hp2 HG03239.hp2 HG03471.hp2 NA18943.hp1 NA18947.hp2 NA18955.hp2 NA18969.hp2 NA18982.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0062 a0001c0002t0003g0009 a0001c0002t0003g0053 others(6): Show a0001c0001t0003g0062 a0001c0002t0003g0009 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0184 a0001c0002t0003g0186 a0001c0002t0003g0188 a0001c0002t0003g0189 a0001c0002t0003g0190	15	372	0.0403	43	c.201 others(60): Show c.201+2073_201+2074insTTTTGGCTTTTGTTGCCATTGCTTTTGG TGTTTTAGTCATGAA	PON3	ENSG00000105852.11	transcript	ENST00000265627.10	protein_coding	3/8			chr7	TogoVar
POR_chr7_75910155_75991855	75989104	G G	GGGTGGAG others(36): Show GGGTGGAGGTTGAGGGGGGGAGGGGTGGAGGTTGAGGGGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG01081.hp1 HG03834.hp2 others(1): Show HG00673.hp1 HG01081.hp1 HG03834.hp2 NA18980.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0077 a0001c0002t0001g0099 others(1): Show a0001c0002t0001g0063 a0001c0002t0001g0077 a0001c0002t0001g0099 a0001c0002t0001g0128	4	278	0.0144	43	c.26 others(54): Show c.2623_*2624insGGTGGAGGTTGAGGGGGGGAGGGGTGGAGGTTGA GGGGGGGGA	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		2250		chr7	TogoVar
POTEB3_chr15_21400401_21445499	21413522	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATAAAAGAAAAT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp2 NA18943.hp1 NA18943.hp2	a0004 a0007 a0004 a0007	a0004c0008 a0007c0009 a0004c0008 a0007c0009	a0004c0008t0027 a0007c0009t0028 a0004c0008t0027 a0007c0009t0028	a0004c0008t0027g0032 a0007c0009t0028g0038 a0004c0008t0027g0032 a0007c0009t0028g0038	2	54	0.0370	43	c.141 others(62): Show c.1410-2522_1410-2521insATTTTCTTTTATATATATATATATAT ATATATATATATATATA	POTEB3	ENSG00000278522.5	transcript	ENST00000611217.5	protein_coding	9/10			chr15	TogoVar
POTEB_chr15_21841329_21882735	21850877	A A	ATTAAAGA others(36): Show ATTAAAGAAAATTATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0004 a0004c0003t0004	a0004c0003t0004g0044 a0004c0003t0004g0044	1	64	0.0156	43	c.129 others(62): Show c.1299-2556_1299-2555insCATATATATATATATATATATATATA TATATAATTTTCTTTAA	POTEB	ENSG00000233917.9	transcript	ENST00000439682.2	protein_coding	9/10			chr15	TogoVar
PPEF2_chr4_75854867_75907452	75877039	A A	AAAGAAAG others(36): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02145.hp1 HG00673.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0171 a0001c0001t0001g0172	2	270	0.0074	43	c.934 others(58): Show c.934-367_934-366insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTT	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	10/16			chr4	TogoVar
PPFIA1_chr11_70265690_70389396	70277060	A A	ATATATTA others(36): Show ATATATTATAATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0035 a0001c0003t0003g0035	1	282	0.0036	43	c.264 others(60): Show c.264+4625_264+4626insATATTATAATATATATATATATATATAT ATATATATATATTTT	PPFIA1	ENSG00000131626.19	transcript	ENST00000253925.12	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPL_chr16_4877507_4942148	4920371	G G	GAAAGAAA others(36): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp1 others(41): Show HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00621.hp2 HG00639.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01099.hp2 HG01175.hp2 HG01192.hp2 HG01261.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG02129.hp2 HG02132.hp1 HG02165.hp1 HG02451.hp2 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG03471.hp1 HG03486.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18980.hp2 NA18986.hp1 NA19011.hp1 NA19054.hp2 NA19062.hp1 NA19063.hp2 NA20300.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(7): Show a0001 a0002 a0005 a0007 a0014 a0019 a0022 a0023 a0036 a0051	a0001c0001 a0001c0022 a0002c0002 others(10): Show a0001c0001 a0001c0022 a0002c0002 a0002c0006 a0002c0027 a0005c0005 a0007c0009 a0014c0017 a0019c0026 a0022c0078 a0023c0079 a0036c0045 a0051c0034	a0001c0001t0001 a0001c0022t0001 a0002c0002t0002 others(11): Show a0001c0001t0001 a0001c0022t0001 a0002c0002t0002 a0002c0002t0011 a0002c0006t0003 a0002c0027t0002 a0005c0005t0002 a0007c0009t0002 a0014c0017t0001 a0019c0026t0002 a0022c0078t0001 a0023c0079t0002 a0036c0045t0001 a0051c0034t0013	a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0039 others(41): Show a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0058 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0171 a0001c0001t0001g0192 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0270 a0001c0001t0001g0337 a0001c0001t0001g0340 a0001c0022t0001g0193 a0002c0002t0002g0010 a0002c0002t0002g0016 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0149 a0002c0002t0002g0151 a0002c0002t0002g0234 a0002c0002t0002g0318 a0002c0002t0011g0023 a0002c0002t0011g0024 a0002c0006t0003g0152 a0002c0027t0002g0019 a0005c0005t0002g0027 a0005c0005t0002g0032 a0007c0009t0002g0036 a0014c0017t0001g0125 a0019c0026t0002g0320 a0022c0078t0001g0186 a0023c0079t0002g0150 a0036c0045t0001g0245 a0051c0034t0013g0153	44	372	0.1183	43	c.63- others(58): Show c.63-9423_63-9422insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTT	PPL	ENSG00000118898.16	transcript	ENST00000345988.7	protein_coding	1/21			chr16	TogoVar
PPP1R16B_chr20_38800697_38928024	38855982	A A	AGAGAGAG others(36): Show AGAGAGAGAGAGAGAGAAGGAGGAGGAGGAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18969.hp2 NA18982.hp1 HG02083.hp2 NA18969.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0002t0002g0107 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0002t0002g0107	3	244	0.0123	43	c.250 others(62): Show c.250+19807_250+19808insGAGAGAGAGAGAGAGAAGGAGGAGGA GGAGGAGGAGGAGGAGG	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	2/10			chr20	TogoVar
PPP2R3B_chrX_328933_391907	329178	T T	TCCCCCCT others(36): Show TCCCCCCTCCCCCTCTCCCCGTCCCCCCTCCCCCTCTCCCCGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 NA19088.hp1 HG02165.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0004 a0001c0007 a0002c0004	a0001c0007t0008 a0002c0004t0002 a0001c0007t0008 a0002c0004t0002	a0001c0007t0008g0015 a0002c0004t0002g0005 a0001c0007t0008g0015 a0002c0004t0002g0005	2	25	0.0800	43	c.51 others(54): Show c.5188_*5189insGACGGGGAGAGGGGGAGGGGGGACGGGGAGAGGG GGAGGGGGG	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding		4754		chrX	TogoVar
PPP2R5C_chr14_101756709_101932977	101782374	C C	CCCTCCCT others(36): Show CCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCTCCCCCTTCCCCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03516.hp2 HG06807.hp1 HG02572.hp2 HG03516.hp2 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0013 a0001c0003t0005 a0001c0003t0013	a0001c0003t0005g0018 a0001c0003t0005g0020 a0001c0003t0013g0019 a0001c0003t0005g0018 a0001c0003t0005g0020 a0001c0003t0013g0019	3	138	0.0217	43	c.94- others(58): Show c.94-3643_94-3642insCTCCCTCTCTCCCCCTTCCCCTCCCTCTCT CCCCCTTCCCCTC	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP2R5C_chr14_101756709_101932977	101924445	C C	CTTTTTTT others(36): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	138	0.0073	43	c.160 others(60): Show c.1609-684_1609-683insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP3CA_chr4_101018418_101352526	101106466	A A	AAAGAAAG others(36): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	192	0.0052	43	c.384 others(60): Show c.384+2487_384+2488insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTT	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	3/13			chr4	TogoVar
PPP4R3A_chr14_91452508_91515310	91468667	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA19043.hp2 HG01346.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0263 a0001c0001t0001g0211 a0001c0001t0001g0263	2	370	0.0054	43	c.166 others(62): Show c.1660+2169_1660+2170insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT	PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	10/14			chr14	TogoVar
PRAMEF13_chr1_13191188_13206409	13203476	A A	AGAAGAAA others(36): Show AGAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0003 a0012c0017t0003	a0012c0017t0003g0014 a0012c0017t0003g0014	1	53	0.0189	43	c.-21 others(54): Show c.-2171_-2170insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTCTTC	PRAMEF13	ENSG00000279169.3	transcript	ENST00000625019.3	protein_coding		2068		chr1	TogoVar
PRCP_chr11_82817936_82905430	82841053	A A	AATATATA others(36): Show AATATATATATATATATATATATATATATAAATAATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02135.hp2 HG03225.hp2 others(7): Show HG00544.hp1 HG02135.hp2 HG03225.hp2 NA18971.hp2 NA18978.hp1 NA18985.hp2 NA19067.hp1 NA19083.hp2 NA19088.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0031 a0001c0001t0002g0036 others(7): Show a0001c0001t0002g0026 a0001c0001t0002g0031 a0001c0001t0002g0036 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0065 a0001c0001t0002g0069 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084	10	320	0.0313	43	c.922 others(60): Show c.922-1629_922-1628insATATATATATTATTTATATATATATATA TATATATATATATAT	PRCP	ENSG00000137509.12	transcript	ENST00000313010.8	protein_coding	6/8			chr11	TogoVar
PRDM15_chr21_41793225_41884344	41865066	C C	CCATGCCT others(36): Show CCATGCCTGCTCACTCCTCAGTCCCCACTCCCCACTCCCCGGCT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0005 a0002c0024t0005	a0002c0024t0005g0181 a0002c0024t0005g0181	1	406	0.0025	43	c.-9- others(58): Show c.-9-4695_-9-4694insAGCCGGGGAGTGGGGAGTGGGGACTGAGGA GTGAGCAGGCATG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	1/23			chr21	TogoVar
PRDM16_chr1_3064203_3443621	3269792	C C	CGGAGGAG others(36): Show CGGAGGAGGACAGTTGGGAGGACAGTCAGGAGGAGCATAATCCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp2 HG01069.hp1 others(48): Show HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01891.hp2 HG02109.hp2 HG02145.hp1 HG02273.hp2 HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03710.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0004 others(10): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0012 a0001c0014 a0001c0022 a0002c0003 a0002c0007 a0002c0015 a0003c0011 a0006c0023	a0001c0001t0001 a0001c0001t0012 a0001c0001t0020 others(39): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0020 a0001c0001t0022 a0001c0001t0028 a0001c0001t0053 a0001c0001t0072 a0001c0001t0077 a0001c0001t0086 a0001c0001t0087 a0001c0002t0001 a0001c0002t0006 a0001c0002t0017 a0001c0002t0027 a0001c0002t0050 a0001c0004t0004 a0001c0004t0007 a0001c0004t0010 a0001c0004t0073 a0001c0006t0011 a0001c0006t0013 a0001c0006t0024 a0001c0006t0039 a0001c0008t0001 a0001c0008t0002 a0001c0012t0009 a0001c0014t0030 a0001c0014t0068 a0001c0022t0057 a0002c0003t0001 a0002c0003t0004 a0002c0003t0006 a0002c0003t0007 a0002c0003t0029 a0002c0003t0051 a0002c0007t0001 a0002c0007t0002 a0002c0007t0019 a0002c0007t0024 a0002c0015t0014 a0003c0011t0001 a0006c0023t0025	a0001c0001t0001g0150 a0001c0001t0001g0201 a0001c0001t0012g0041 others(48): Show a0001c0001t0001g0150 a0001c0001t0001g0201 a0001c0001t0012g0041 a0001c0001t0012g0129 a0001c0001t0020g0105 a0001c0001t0022g0040 a0001c0001t0028g0111 a0001c0001t0028g0126 a0001c0001t0053g0154 a0001c0001t0072g0008 a0001c0001t0077g0036 a0001c0001t0086g0033 a0001c0001t0087g0062 a0001c0002t0001g0208 a0001c0002t0006g0149 a0001c0002t0017g0177 a0001c0002t0027g0148 a0001c0002t0027g0166 a0001c0002t0050g0017 a0001c0004t0004g0051 a0001c0004t0007g0038 a0001c0004t0010g0032 a0001c0004t0010g0174 a0001c0004t0073g0143 a0001c0006t0011g0039 a0001c0006t0011g0065 a0001c0006t0013g0133 a0001c0006t0024g0026 a0001c0006t0039g0140 a0001c0008t0001g0005 a0001c0008t0002g0059 a0001c0012t0009g0113 a0001c0012t0009g0193 a0001c0014t0030g0178 a0001c0014t0068g0159 a0001c0022t0057g0139 a0002c0003t0001g0107 a0002c0003t0004g0127 a0002c0003t0004g0128 a0002c0003t0006g0009 a0002c0003t0007g0103 a0002c0003t0029g0106 a0002c0003t0051g0079 a0002c0007t0001g0001 a0002c0007t0002g0045 a0002c0007t0019g0020 a0002c0007t0024g0070 a0002c0015t0014g0073 a0003c0011t0001g0056 a0003c0011t0001g0057 a0006c0023t0025g0007	51	210	0.2429	43	c.438 others(62): Show c.438+25655_438+25656insGGAGGAGGACAGTTGGGAGGACAGTC AGGAGGAGCATAATCCT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16			chr1	TogoVar
PRDM16_chr1_3064203_3443621	3269804	G G	GTTGGGAG others(36): Show GTTGGGAGGACAGTCAGGAGGAGCATAATCCTGGAGGAGGACAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0007 a0007	a0007c0024 a0007c0024	a0007c0024t0007 a0007c0024t0007	a0007c0024t0007g0173 a0007c0024t0007g0173	1	210	0.0048	43	c.438 others(62): Show c.438+25668_438+25669insTGGGAGGACAGTCAGGAGGAGCATAA TCCTGGAGGAGGACATT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3297923	A A	ACAGGGGC others(36): Show ACAGGGGCCAGACTGCATGGCAAGCTCCGCAGGAGCCAGCTCTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02717.hp2 HG02809.hp1 others(3): Show HG01891.hp2 HG02717.hp2 HG02809.hp1 HG02965.hp2 HG03130.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0028 a0001c0004t0073 a0001c0006t0013 others(2): Show a0001c0001t0028 a0001c0004t0073 a0001c0006t0013 a0001c0006t0024 a0001c0006t0039	a0001c0001t0028g0111 a0001c0001t0028g0126 a0001c0004t0073g0143 others(3): Show a0001c0001t0028g0111 a0001c0001t0028g0126 a0001c0004t0073g0143 a0001c0006t0013g0133 a0001c0006t0024g0026 a0001c0006t0039g0140	6	210	0.0286	43	c.438 others(62): Show c.438+53819_438+53861dupAGCCAGCTCTGCAGGGGCCAGACTGC ATGGCAAGCTCCGCAGG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCB_chr16_23830983_24225611	23902780	T T	TCCTTCCT others(36): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG04199.hp1 HG02895.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0042 a0001c0003t0010 a0001c0001t0042 a0001c0003t0010	a0001c0001t0042g0001 a0001c0003t0010g0103 a0001c0001t0042g0001 a0001c0003t0010g0103	2	148	0.0135	43	c.205 others(62): Show c.205+65377_205+65378insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCTTCCTCCCTCCCT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCZ_chr1_2045411_2190395	2122168	C C	CATGGTGG others(36): Show CATGGTGGTAGTTATTTAGGGTCACGGCTGTAGTTAGCGTCATG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0276 a0001c0002t0001g0276	1	286	0.0035	43	c.335 others(62): Show c.335-13094_335-13093insATGGTGGTAGTTATTTAGGGTCACGG CTGTAGTTAGCGTCATG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	364	0.0028	43	c.75+ others(58): Show c.75+4515_75+4516insATATATATATATATATATATATATATATAT ATATATATTTTTT	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PROZ_chr13_113153648_113177386	113161972	A A	ACATCCTC others(36): Show ACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA19043.hp1 HG02818.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0159 a0001c0001t0001g0160	2	378	0.0053	43	c.260 others(60): Show c.260-1015_260-1014insCCGTCCCTGCCACCTCCCCCCCATCCTC CTCCTGCTCAGGTCC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PRPF31_chr19_54110754_54136713	54134108	C C	CCCCTCTC others(36): Show CCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG03688.hp2 HG02280.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0036 a0001c0001t0001g0002 a0001c0001t0001g0036	2	227	0.0088	43	c.26 others(54): Show c.2676_*2677insCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCT	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2396		chr19	TogoVar
PRR14L_chr22_31676347_31755132	31677604	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0076 a0002c0002t0003g0076	1	316	0.0032	43	c.79 others(54): Show c.7922_*7923insATATATATATATATATATATATATATATATATTT TTTTTTTTT	PRR14L	ENSG00000183530.14	transcript	ENST00000327423.11	protein_coding		3742		chr22	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(36): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19088.hp1 NA19067.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0116 a0001c0001t0001g0074 a0001c0001t0001g0116	2	216	0.0093	43	c.-51 others(60): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTTTT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2C_chr1_171480530_171598511	171518495	T T	TTTTTTTT others(36): Show TTTTTTTTCAATTTTTTTTCAATTTTTTTTCAATTTTTTTTCAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0176 a0001c0005t0004g0176	1	336	0.0030	43	c.750 others(58): Show c.750+688_750+689insCAATTTTTTTTCAATTTTTTTTCAATTTTT TTTCAATTTTTTT	PRRC2C	ENSG00000117523.18	transcript	ENST00000647382.2	protein_coding	6/34		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRRX2_chr9_129660647_129727674	129684532	A A	ACACACAC others(36): Show ACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	358	0.0028	43	c.259 others(62): Show c.259+18407_259+18408insACACACACACACACACACACACACAC ACACACACACACACACC	PRRX2	ENSG00000167157.11	transcript	ENST00000372469.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRSS35_chr6_83507534_83530704	83517039	G G	GTGGTTGC others(36): Show GTGGTTGCTCCCCCCTGCTCCTACCCTCGACTATCGAACACGAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	440	0.0023	43	c.-21 others(60): Show c.-21+4347_-21+4348insGTTGCTCCCCCCTGCTCCTACCCTCGAC TATCGAACACGAATG	PRSS35	ENSG00000146250.7	transcript	ENST00000369700.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRUNE2_chr9_76606376_76911114	76855082	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0157 a0001c0001t0004g0157	1	240	0.0042	43	c.37- others(56): Show c.37-875_37-874insATATATATATATATTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	1/18			chr9	TogoVar
PRUNE2_chr9_76606376_76911114	76855082	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0102 a0001c0001t0018g0102	1	240	0.0042	43	c.37- others(56): Show c.37-875_37-874insATATATATATATATATATTTTTTTTTTTTTTT TTTTTTTTTTT	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	1/18			chr9	TogoVar
PRXL2A_chr10_80403551_80442115	80406757	C C	CTTATATA others(36): Show CTTATATATCATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0083	1	300	0.0033	43	c.-18 others(54): Show c.-1889_-1888insTTATATATCATATATATATATATATATATATATA TATATATAT	PRXL2A	ENSG00000122378.14	transcript	ENST00000606162.6	protein_coding		1793		chr10	TogoVar
PSAT1_chr9_78292125_78335093	78326955	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0201 a0001c0001t0003g0201	1	416	0.0024	43	c.870 others(60): Show c.870-1095_870-1094insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTT	PSAT1	ENSG00000135069.14	transcript	ENST00000376588.4	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PSAT1_chr9_78292125_78335093	78326955	A A	ATATATAT others(36): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0138 a0001c0002t0005g0138	1	416	0.0024	43	c.870 others(60): Show c.870-1095_870-1094insATATATATATATATATATATTTTTTTTT TTTTTTTTTTTTTTT	PSAT1	ENSG00000135069.14	transcript	ENST00000376588.4	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PSEN1_chr14_73131507_73228691	73218661	T T	TCCCGCAC others(36): Show TCCCGCACAGCATAGAGAATGCCCCCGCACAGCATAGAGAAGCC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02015.hp2 HG02071.hp1 others(16): Show HG00558.hp2 HG02015.hp2 HG02071.hp1 HG02080.hp2 HG02135.hp1 NA18943.hp1 NA18948.hp2 NA18963.hp2 NA18971.hp1 NA18975.hp2 NA18988.hp1 NA18990.hp2 NA18998.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp2 NA19062.hp1 NA19068.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0339 a0001c0001t0002g0345 others(16): Show a0001c0001t0002g0185 a0001c0001t0002g0339 a0001c0001t0002g0345 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0364 a0001c0001t0002g0365 a0001c0001t0002g0371 a0001c0001t0002g0372 a0001c0001t0002g0373 a0001c0001t0002g0374 a0001c0001t0002g0375	19	378	0.0503	43	c.124 others(60): Show c.1249-408_1249-366dupCCCCGCACAGCATAGAGAAGCCCCCGCA CAGCATAGAGAATGC	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSG5_chr19_43162743_43191536	43182705	A A	ATTTTTTT others(36): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0174 a0001c0001t0003g0174	1	430	0.0023	43	c.430 others(60): Show c.430+2076_430+2077insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	PSG5	ENSG00000204941.14	transcript	ENST00000342951.11	protein_coding	2/5			chr19	TogoVar
PSMA3_chr14_58239843_58277004	58254340	A A	ATATATAT others(36): Show ATATATATATATTATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	332	0.0030	43	c.228 others(60): Show c.228+2101_228+2102insATATATATTATATATATATATATATATA TATATATGTATGTAT	PSMA3	ENSG00000100567.13	transcript	ENST00000216455.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMB3_chr17_38747741_38769225	38769008	T T	TGAGATCT others(36): Show TGAGATCTCTGGTGTTGACCTGGTGTATTCCAGACAGGATGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	431	0.0023	43	c.48 others(54): Show c.4841_*4842insGAGATCTCTGGTGTTGACCTGGTGTATTCCAGAC AGGATGGAG	PSMB3	ENSG00000277791.5	transcript	ENST00000619426.5	protein_coding		4784		chr17	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTGTTTT others(36): Show GTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	268	0.0037	43	c.571 others(60): Show c.571-1213_571-1212insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0156 a0001c0001t0021g0156	1	326	0.0031	43	c.366 others(60): Show c.366-1551_366-1550insATATATATATATATATATATATATATAT ATATATATTTTTTTT	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMG4_chr6_3253947_3273049	3260291	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	412	0.0024	43	c.174 others(60): Show c.174+1096_174+1097insATATATATATATATATATATATATATAT ATATATATTTTTTTT	PSMG4	ENSG00000180822.12	transcript	ENST00000438998.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar

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Search Results (Total: 2299 hits)