Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PPP6R2_chr22_50338327_50450090	50339426	TGTGTGTT others(31): Show TGTGTGTTTACGGTGTGTGTTGTGTGTGGTGTGTGATTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	338	0.0030	-38	c.-42 others(49): Show c.-4271_-4234delGTGTGTTTACGGTGTGTGTTGTGTGTGGTGTGTG ATTG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding		3900		chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50424322	TGTCAGCG others(31): Show TGTCAGCGTGTGGAAGGTCTGTCCGCGTGTGGAAGGTCC	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0193 a0001c0003t0002g0193	1	334	0.0030	-38	c.112 others(55): Show c.1125+712_1125+749delAGCGTGTGGAAGGTCTGTCCGCGTGTGG AAGGTCCGTC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50424421	CGCGTGTG others(31): Show CGCGTGTGGAAGGTCCGTCCGCGTGTGGAACGTCTGTCA	C C	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0018 a0001c0001t0006g0018	1	161	0.0062	-38	c.112 others(55): Show c.1125+860_1125+897delCGTCCGCGTGTGGAACGTCTGTCAGCGT GTGGAAGGTC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50424474	CGTCCGCG others(31): Show CGTCCGCGTGTGGAACGTCTGTCAGCGTGTGGAAGGTCT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0026 a0001c0002t0005g0026	1	337	0.0030	-38	c.112 others(55): Show c.1125+890_1125+927delGGAAGGTCTGTCCGCGTGTGGAACGTCT GTCAGCGTGT	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRAMEF15_chr1_13310581_13327598	13327498	TCTCTCCC others(31): Show TCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG02723.hp1 others(7): Show HG01884.hp1 HG02258.hp1 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG02965.hp1 HG03098.hp2 HG03225.hp2 NA18522.hp1 NA19030.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0001 a0005c0009t0001 a0001c0001t0001 a0005c0009t0001	a0001c0001t0001g0015 a0001c0001t0001g0089 a0001c0001t0001g0090 others(5): Show a0001c0001t0001g0015 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0005c0009t0001g0015 a0005c0009t0001g0091	10	183	0.0546	-38	c.52 others(49): Show c.5235_*5272delCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGT CTCC	PRAMEF15	ENSG00000204501.7	transcript	ENST00000376152.2	protein_coding		4901		chr1	TogoVar
PRAMEF8_chr1_13276304_13290137	13286243	GAAAGAAA others(31): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0016 a0016	a0016c0013 a0016c0013	a0016c0013t0001 a0016c0013t0001	a0016c0013t0001g0057 a0016c0013t0001g0057	1	331	0.0030	-38	c.-12 others(49): Show c.-1210_-1173delTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	PRAMEF8	ENSG00000182330.11	transcript	ENST00000357367.7	protein_coding		1107		chr1	TogoVar
PRAME_chr22_22542701_22564265	22558008	CAGGGTGG others(31): Show CAGGGTGGGGGAGGGGTGGGCATGGGGAAAGGGAGACAG	C C	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	398	0.0025	-38	c.-11 others(55): Show c.-113-466_-113-429delCTGTCTCCCTTTCCCCATGCCCACCCCT CCCCCACCCT	PRAME	ENSG00000185686.18	transcript	ENST00000405655.8	protein_coding	1/5			chr22	TogoVar
PRDM11_chr11_45141639_45240109	45198299	GTTCAAGT others(31): Show GTTCAAGTTCAAGTTCAGGTTATCTCTATCTCTCAGGTC	G G	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0183 a0001c0001t0070g0183	1	306	0.0033	-38	c.487 others(55): Show c.487-6407_487-6370delAGTTCAAGTTCAGGTTATCTCTATCTCT CAGGTCTTCA	PRDM11	ENSG00000019485.14	transcript	ENST00000683152.1	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRDM16_chr1_3064203_3443621	3181041	CACACGCA others(31): Show CACACGCAGTCTTACACGCGGTCTTACACACCCGGTCTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02723.hp1 HG02886.hp2 HG02572.hp2 HG02723.hp1 HG02886.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0022 a0002c0030 a0001c0001 a0001c0022 a0002c0030	a0001c0001t0087 a0001c0022t0057 a0002c0030t0047 a0001c0001t0087 a0001c0022t0057 a0002c0030t0047	a0001c0001t0087g0062 a0001c0022t0057g0138 a0002c0030t0047g0206 a0001c0001t0087g0062 a0001c0022t0057g0138 a0002c0030t0047g0206	3	208	0.0144	-38	c.38- others(53): Show c.38-5079_38-5042delGCAGTCTTACACGCGGTCTTACACACCCGG TCTTACAC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3181412	AGTCTTAC others(31): Show AGTCTTACACACGCGGTCTTACACAAGCAGTCTTACACG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA18983.hp2 NA19067.hp1 others(2): Show HG01346.hp1 NA18983.hp2 NA19067.hp1 NA19067.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0033 a0001c0002t0001 a0001c0002t0018 a0001c0001t0033 a0001c0002t0001 a0001c0002t0018	a0001c0001t0033g0198 a0001c0002t0001g0114 a0001c0002t0001g0208 others(2): Show a0001c0001t0033g0198 a0001c0002t0001g0114 a0001c0002t0001g0208 a0001c0002t0001g0210 a0001c0002t0018g0197	5	201	0.0249	-38	c.38- others(53): Show c.38-4700_38-4663delCGGTCTTACACAAGCAGTCTTACACGGTCT TACACACG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3181666	AGTCTTAC others(31): Show AGTCTTACACGCGCAGTCTTACACACGGTCTTACACACG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02717.hp1 HG02559.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0014 a0001c0008t0001 a0001c0001t0014 a0001c0008t0001	a0001c0001t0014g0069 a0001c0008t0001g0005 a0001c0001t0014g0069 a0001c0008t0001g0005	2	186	0.0108	-38	c.38- others(53): Show c.38-4449_38-4412delGCGCAGTCTTACACACGGTCTTACACACGG TCTTACAC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM2_chr1_13695188_13830079	13828694	AGACAGGG others(31): Show AGACAGGGATCAGGAAACAGGGAGCCCCCATAGACCTCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0008 a0008	a0008c0035 a0008c0035	a0008c0035t0001 a0008c0035t0001	a0008c0035t0001g0174 a0008c0035t0001g0174	1	322	0.0031	-38	c.55 others(49): Show c.5560_*5597delGACAGGGATCAGGAAACAGGGAGCCCCCATAGAC CTCT	PRDM2	ENSG00000116731.23	transcript	ENST00000311066.10	protein_coding		3616		chr1	TogoVar
PRDM6_chr5_123084241_123199266	123089108	TCTCTCTC others(31): Show TCTCTCTCTCTCTCTCTCTCACACACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 NA19067.hp1 HG03130.hp2 NA19067.hp1	a0003 a0008 a0003 a0008	a0003c0003 a0008c0021 a0003c0003 a0008c0021	a0003c0003t0005 a0008c0021t0063 a0003c0003t0005 a0008c0021t0063	a0003c0003t0005g0139 a0008c0021t0063g0255 a0003c0003t0005g0139 a0008c0021t0063g0255	2	296	0.0068	-38	c.-42 others(47): Show c.-426_-389delCTCTCTCTCTCTCTCTCTCACACACACACACACACA CA	PRDM6	ENSG00000061455.11	transcript	ENST00000407847.5	protein_coding		132		chr5	TogoVar
PRDM6_chr5_123084241_123199266	123089110	TCTCTCTC others(31): Show TCTCTCTCTCTCTCTCTCACACACACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 NA18952.hp1 HG02723.hp1 NA18952.hp1	a0002 a0003 a0002 a0003	a0002c0006 a0003c0003 a0002c0006 a0003c0003	a0002c0006t0002 a0003c0003t0001 a0002c0006t0002 a0003c0003t0001	a0002c0006t0002g0026 a0003c0003t0001g0103 a0002c0006t0002g0026 a0003c0003t0001g0103	2	296	0.0068	-38	c.-42 others(47): Show c.-424_-387delCTCTCTCTCTCTCTCTCACACACACACACACACACA CA	PRDM6	ENSG00000061455.11	transcript	ENST00000407847.5	protein_coding		130		chr5	TogoVar
PRDM6_chr5_123084241_123199266	123089112	TCTCTCTC others(31): Show TCTCTCTCTCTCTCTCACACACACACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0096 a0001c0001t0005g0096	1	296	0.0034	-38	c.-42 others(47): Show c.-422_-385delCTCTCTCTCTCTCTCACACACACACACACACACACA CA	PRDM6	ENSG00000061455.11	transcript	ENST00000407847.5	protein_coding		128		chr5	TogoVar
PRDM6_chr5_123084241_123199266	123089114	TCTCTCTC others(31): Show TCTCTCTCTCTCTCACACACACACACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG03225.hp2 HG03688.hp2 HG01261.hp2 HG03225.hp2 HG03688.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0008 a0002c0002 a0005c0008	a0002c0002t0006 a0002c0002t0065 a0005c0008t0017 a0002c0002t0006 a0002c0002t0065 a0005c0008t0017	a0002c0002t0006g0287 a0002c0002t0065g0292 a0005c0008t0017g0172 a0002c0002t0006g0287 a0002c0002t0065g0292 a0005c0008t0017g0172	3	278	0.0108	-38	c.-42 others(47): Show c.-420_-383delCTCTCTCTCTCTCACACACACACACACACACACACA CA	PRDM6	ENSG00000061455.11	transcript	ENST00000407847.5	protein_coding		126		chr5	TogoVar
PRDM6_chr5_123084241_123199266	123089116	TCTCTCTC others(31): Show TCTCTCTCTCTCACACACACACACACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG03471.hp1 HG01106.hp2 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0015 a0002c0002t0010 a0002c0002t0015	a0002c0002t0010g0289 a0002c0002t0015g0258 a0002c0002t0010g0289 a0002c0002t0015g0258	2	260	0.0077	-38	c.-41 others(47): Show c.-418_-381delCTCTCTCTCTCACACACACACACACACACACACACA CA	PRDM6	ENSG00000061455.11	transcript	ENST00000407847.5	protein_coding		124		chr5	TogoVar
PRDM6_chr5_123084241_123199266	123089120	TCTCTCTC others(31): Show TCTCTCTCACACACACACACACACACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG03017.hp2 HG01993.hp2 HG03017.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0033 a0002c0002t0001 a0001c0001t0033 a0002c0002t0001	a0001c0001t0033g0072 a0002c0002t0001g0262 a0001c0001t0033g0072 a0002c0002t0001g0262	2	295	0.0068	-38	c.-41 others(47): Show c.-414_-377delCTCTCTCACACACACACACACACACACACACACACA CA	PRDM6	ENSG00000061455.11	transcript	ENST00000407847.5	protein_coding		120		chr5	TogoVar
PREP_chr6_105268218_105408082	105374632	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02135.hp2 HG02040.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0123 a0001c0001t0001g0029 a0001c0001t0001g0123	2	10	0.2000	-38	c.386 others(55): Show c.386-1092_386-1055delTATATATATATATATATATATATATATA TATATATATA	PREP	ENSG00000085377.15	transcript	ENST00000652536.2	protein_coding	4/14			chr6	TogoVar
PRICKLE1_chr12_42451757_42594746	42477480	GTGTATAT others(31): Show GTGTATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp2 others(63): Show HG00099.hp2 HG00323.hp2 HG00408.hp2 HG00609.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01255.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG02004.hp1 HG02040.hp2 HG02055.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02155.hp2 HG02451.hp1 HG02572.hp1 HG02630.hp1 HG02698.hp1 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp2 NA18747.hp1 NA18948.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18959.hp1 NA18960.hp1 NA18979.hp1 NA18979.hp2 NA18984.hp1 NA18990.hp2 NA18995.hp1 NA19002.hp2 NA19009.hp2 NA19056.hp2 NA19060.hp1 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19084.hp2 NA19088.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0005c0018 a0008c0012	a0001c0001t0002 a0001c0001t0007 a0001c0001t0016 others(18): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0016 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0033 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0048 a0001c0002t0003 a0001c0002t0005 a0001c0002t0028 a0001c0002t0049 a0001c0003t0022 a0001c0003t0027 a0001c0005t0002 a0005c0018t0002 a0008c0012t0016	a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0025 others(63): Show a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0042 a0001c0001t0002g0053 a0001c0001t0002g0061 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0089 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0123 a0001c0001t0002g0132 a0001c0001t0002g0169 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0212 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0007g0038 a0001c0001t0007g0039 a0001c0001t0016g0278 a0001c0001t0016g0287 a0001c0001t0016g0289 a0001c0001t0020g0290 a0001c0001t0020g0291 a0001c0001t0020g0294 a0001c0001t0024g0068 a0001c0001t0024g0070 a0001c0001t0025g0065 a0001c0001t0025g0096 a0001c0001t0026g0057 a0001c0001t0033g0001 a0001c0001t0040g0078 a0001c0001t0041g0162 a0001c0001t0042g0260 a0001c0001t0048g0149 a0001c0002t0003g0071 a0001c0002t0003g0267 a0001c0002t0005g0271 a0001c0002t0028g0067 a0001c0002t0028g0182 a0001c0002t0049g0048 a0001c0003t0022g0143 a0001c0003t0027g0200 a0001c0003t0027g0201 a0001c0005t0002g0028 a0001c0005t0002g0030 a0001c0005t0002g0031 a0001c0005t0002g0034 a0001c0005t0002g0136 a0001c0005t0002g0148 a0001c0005t0002g0153 a0001c0005t0002g0232 a0001c0005t0002g0261 a0005c0018t0002g0121 a0008c0012t0016g0283	66	297	0.2222	-38	c.-48 others(55): Show c.-48-4954_-48-4917delTATATATATATATATATATATATATATA TATATATACA	PRICKLE1	ENSG00000139174.12	transcript	ENST00000345127.9	protein_coding	1/7			chr12	TogoVar
PRICKLE1_chr12_42451757_42594746	42477482	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01071.hp1 HG01081.hp2 others(40): Show HG00738.hp2 HG01071.hp1 HG01081.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01515.hp1 HG01891.hp1 HG02071.hp1 HG02559.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03669.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG06807.hp1 NA18940.hp1 NA18943.hp2 NA18955.hp1 NA18966.hp1 NA18983.hp2 NA18994.hp1 NA19083.hp1 NA19240.hp2 NA20805.hp2 NA21309.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0011 a0001c0015 a0003c0006 a0004c0007 a0006c0014	a0001c0001t0001 a0001c0002t0013 a0001c0002t0015 others(14): Show a0001c0001t0001 a0001c0002t0013 a0001c0002t0015 a0001c0003t0004 a0001c0003t0018 a0001c0003t0019 a0001c0003t0032 a0001c0003t0055 a0001c0003t0056 a0001c0005t0002 a0001c0009t0037 a0001c0011t0053 a0001c0015t0052 a0003c0006t0009 a0003c0006t0030 a0004c0007t0029 a0006c0014t0003	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0174 others(40): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0174 a0001c0001t0001g0225 a0001c0002t0013g0144 a0001c0002t0013g0234 a0001c0002t0015g0155 a0001c0002t0015g0157 a0001c0002t0015g0210 a0001c0002t0015g0230 a0001c0003t0004g0018 a0001c0003t0004g0127 a0001c0003t0004g0139 a0001c0003t0004g0140 a0001c0003t0004g0166 a0001c0003t0004g0180 a0001c0003t0004g0197 a0001c0003t0004g0238 a0001c0003t0004g0239 a0001c0003t0018g0035 a0001c0003t0018g0138 a0001c0003t0019g0118 a0001c0003t0019g0205 a0001c0003t0019g0262 a0001c0003t0032g0003 a0001c0003t0055g0288 a0001c0003t0056g0300 a0001c0005t0002g0156 a0001c0009t0037g0108 a0001c0011t0053g0113 a0001c0015t0052g0233 a0003c0006t0009g0011 a0003c0006t0009g0046 a0003c0006t0009g0076 a0003c0006t0009g0168 a0003c0006t0009g0175 a0003c0006t0009g0189 a0003c0006t0009g0241 a0003c0006t0030g0296 a0003c0006t0030g0297 a0004c0007t0029g0084 a0004c0007t0029g0172 a0006c0014t0003g0242	43	115	0.3739	-38	c.-48 others(55): Show c.-48-4956_-48-4919delTATATATATATATATATATATATATATA TATATATATA	PRICKLE1	ENSG00000139174.12	transcript	ENST00000345127.9	protein_coding	1/7			chr12	TogoVar
PRICKLE1_chr12_42451757_42594746	42527916	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG04184.hp2 HG04199.hp2 HG03239.hp1 HG04184.hp2 HG04199.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0263 a0001c0003t0012g0264 a0001c0003t0012g0266 a0001c0003t0012g0263 a0001c0003t0012g0264 a0001c0003t0012g0266	3	263	0.0114	-38	c.-48 others(57): Show c.-48-55390_-48-55353delATATATATATATATATATATATATAT ATATATATATAT	PRICKLE1	ENSG00000139174.12	transcript	ENST00000345127.9	protein_coding	1/7			chr12	TogoVar
PRKAG2_chr7_151551127_151882115	151855066	CCACACAC others(31): Show CCACACACACCATCCTCCACACACACCATCCTCCACACA	C C	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0126 a0001c0001t0003g0126	1	200	0.0050	-38	c.114 others(57): Show c.114+21403_114+21440delTGTGTGGAGGATGGTGTGTGTGGAGG ATGGTGTGTGTG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKAR1A_chr17_68507430_68538431	68536987	ACCTGTCA others(31): Show ACCTGTCAGAGTTACTGTTGCCTGCGCTGGCCCAAAGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	410	0.0024	-38	c.65 others(49): Show c.6539_*6576delCCTGTCAGAGTTACTGTTGCCTGCGCTGGCCCAA AGTG	PRKAR1A	ENSG00000108946.17	transcript	ENST00000589228.6	protein_coding		3557		chr17	TogoVar
PRKAR2A_chr3_48741586_48852874	48829606	ATGTGTGT others(31): Show ATGTGTGTGTGTATACGTGTGTATACACACACATAAATG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03239.hp1 HG03471.hp2 HG02258.hp1 HG03239.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0108 a0001c0001t0001g0143 a0001c0001t0001g0097 a0001c0001t0001g0108 a0001c0001t0001g0143	3	123	0.0244	-38	c.262 others(57): Show c.262+17691_262+17728delCATTTATGTGTGTGTATACACACGTA TACACACACACA	PRKAR2A	ENSG00000114302.17	transcript	ENST00000265563.13	protein_coding	1/10			chr3	TogoVar
PRKCB_chr16_23830983_24225611	23865485	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0051 a0001c0005t0051	a0001c0005t0051g0040 a0001c0005t0051g0040	1	145	0.0069	-38	c.205 others(57): Show c.205+28081_205+28118delATATATATATATATATATATATATAT ATATATGTGTGT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23865487	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG06807.hp1 HG02615.hp2 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0035 a0001c0003t0008 a0001c0002t0035 a0001c0003t0008	a0001c0002t0035g0139 a0001c0003t0008g0140 a0001c0002t0035g0139 a0001c0003t0008g0140	2	145	0.0138	-38	c.205 others(57): Show c.205+28083_205+28120delATATATATATATATATATATATATAT ATATGTGTGTGT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23865491	ATATATAT others(31): Show ATATATATATATATATATATATATATATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0087 a0001c0001t0017g0087	1	138	0.0072	-38	c.205 others(57): Show c.205+28087_205+28124delATATATATATATATATATATATATAT GTGTGTGTGTGT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23865493	ATATATAT others(31): Show ATATATATATATATATATATATATATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02132.hp2 HG02922.hp2 others(2): Show HG00609.hp1 HG02132.hp2 HG02922.hp2 HG03098.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0015	a0001c0001t0010 a0001c0001t0021 a0001c0003t0048 others(2): Show a0001c0001t0010 a0001c0001t0021 a0001c0003t0048 a0001c0005t0020 a0001c0015t0030	a0001c0001t0010g0053 a0001c0001t0021g0006 a0001c0003t0048g0055 others(2): Show a0001c0001t0010g0053 a0001c0001t0021g0006 a0001c0003t0048g0055 a0001c0005t0020g0037 a0001c0015t0030g0005	5	127	0.0394	-38	c.205 others(57): Show c.205+28089_205+28126delATATATATATATATATATATATATGT GTGTGTGTGTGT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23865495	ATATATAT others(31): Show ATATATATATATATATATATATATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01192.hp1 HG02738.hp1 others(3): Show HG00738.hp2 HG01192.hp1 HG02738.hp1 NA18970.hp1 NA18998.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0015 a0001c0001t0081 a0001c0002t0018 others(3): Show a0001c0001t0015 a0001c0001t0081 a0001c0002t0018 a0001c0002t0043 a0001c0008t0037 a0001c0008t0080	a0001c0001t0015g0074 a0001c0001t0081g0085 a0001c0002t0018g0002 others(3): Show a0001c0001t0015g0074 a0001c0001t0081g0085 a0001c0002t0018g0002 a0001c0002t0043g0058 a0001c0008t0037g0127 a0001c0008t0080g0059	6	139	0.0432	-38	c.205 others(57): Show c.205+28091_205+28128delATATATATATATATATATATATGTGT GTGTGTGTGTGT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23865509	ATATATAT others(31): Show ATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0021 a0001c0002t0011g0021	1	145	0.0069	-38	c.205 others(57): Show c.205+28105_205+28142delATATATATGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23866977	CCCTTCCT others(31): Show CCCTTCCTTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0053 a0001c0004t0053	a0001c0004t0053g0030 a0001c0004t0053g0030	1	143	0.0070	-38	c.205 others(57): Show c.205+29582_205+29619delCTTCCTTCCCTTCCTTCCTTCCTTCC TTCCTTCCTTCC	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKG1_chr10_51069487_52303350	52188203	TATATATA others(31): Show TATATATATGTGTATATATATACATATGTATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp1 HG00735.hp2 others(32): Show HG00140.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG02109.hp1 HG02258.hp1 HG02258.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 NA18522.hp2 NA19043.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0003t0011 a0001c0005t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(32): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0002g0004 a0001c0001t0002g0036 a0001c0001t0002g0041 a0001c0001t0002g0055 a0001c0001t0002g0059 a0001c0001t0002g0063 a0001c0001t0003g0008 a0001c0001t0003g0058 a0001c0001t0003g0060 a0001c0001t0004g0028 a0001c0001t0005g0018 a0001c0001t0005g0064 a0001c0001t0006g0010 a0001c0001t0007g0006 a0001c0001t0008g0003 a0001c0001t0008g0027 a0001c0001t0010g0042 a0001c0001t0012g0045 a0001c0001t0013g0011 a0001c0001t0014g0032 a0001c0001t0015g0009 a0001c0002t0001g0017 a0001c0002t0001g0052 a0001c0002t0003g0014 a0001c0002t0003g0034 a0001c0002t0004g0021 a0001c0002t0006g0013 a0001c0003t0011g0016 a0001c0005t0002g0037	35	64	0.5469	-38	c.107 others(59): Show c.1076+26300_1076+26337delCATATGTATATATATACATATATA TGTGTATATATATA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PROSER3_chr19_35753176_35776166	35774959	TGAGGAGG others(31): Show TGAGGAGGGAGTATCTCTTGAGCCCCAGAGATCAAGACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0027 a0001c0001t0008g0027	1	422	0.0024	-38	c.64 others(49): Show c.6415_*6452delGAGGAGGGAGTATCTCTTGAGCCCCAGAGATCAA GACC	PROSER3	ENSG00000167595.16	transcript	ENST00000646935.2	protein_coding		3794		chr19	TogoVar
PRR22_chr19_5777960_5789746	5780159	AAAAATAC others(31): Show AAAAATACATATATATAAATACATATATAAATATATATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0022 a0001c0006t0002g0022	1	380	0.0026	-38	c.27 others(49): Show c.2781_*2818delAATATATATTTATATATGTATTTATATATATGTA TTTT	PRR22	ENSG00000212123.4	transcript	ENST00000419421.3	protein_coding		2800		chr19	TogoVar
PRR23C_chr3_139037102_139049892	139047999	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	66	0.0152	-38	c.-34 others(49): Show c.-3417_-3380delATATATATATATATATATATATATATATATATAT ATAT	PRR23C	ENSG00000233701.3	transcript	ENST00000413199.1	protein_coding		3108		chr3	TogoVar
PRRT4_chr7_128345325_128366690	128346632	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTCTATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0039 a0001c0005t0005g0039	1	443	0.0023	-38	c.41 others(49): Show c.4186_*4223delTATATATATATATATATAGAGAGAGAGAGAGAGA GAGA	PRRT4	ENSG00000224940.10	transcript	ENST00000446477.7	protein_coding		3692		chr7	TogoVar
PRSS12_chr4_118275038_118358003	118299727	AAAATAAA others(31): Show AAAATAAAATAAAATAAAATAAATAAAATAAATAAAATT	A A	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0096 a0002c0002t0001g0096	1	361	0.0028	-38	c.163 others(55): Show c.1632-827_1632-790delAATTTTATTTATTTTATTTATTTTATTT TATTTTATTT	PRSS12	ENSG00000164099.3	transcript	ENST00000296498.3	protein_coding	8/12			chr4	TogoVar
PRTG_chr15_55606544_55748152	55612697	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02630.hp1 HG02723.hp2 others(2): Show HG02109.hp2 HG02630.hp1 HG02723.hp2 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0038 a0001c0007t0106 a0001c0007t0107 others(1): Show a0001c0007t0038 a0001c0007t0106 a0001c0007t0107 a0001c0007t0108	a0001c0007t0038g0230 a0001c0007t0038g0231 a0001c0007t0106g0109 others(2): Show a0001c0007t0038g0230 a0001c0007t0038g0231 a0001c0007t0106g0109 a0001c0007t0107g0110 a0001c0007t0108g0111	5	14	0.3571	-38	c.72 others(49): Show c.7277_*7314delATATATATATATATATATATATATATATATATAT ATAT	PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	20/20	7277		chr15	TogoVar
PRTG_chr15_55606544_55748152	55629363	ATATATAT others(31): Show ATATATATATATATGTGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0068 a0002c0002t0068	a0002c0002t0068g0099 a0002c0002t0068g0099	1	282	0.0035	-38	c.262 others(55): Show c.2624-397_2624-360delCACACACACACACACACACACACACATA TATATATATA	PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	15/19			chr15	TogoVar
PRTG_chr15_55606544_55748152	55629367	ATATATAT others(31): Show ATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG00642.hp2 others(33): Show HG00323.hp1 HG00642.hp1 HG00642.hp2 HG01071.hp1 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01433.hp1 HG02055.hp1 HG02055.hp2 HG02148.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03927.hp2 HG04204.hp2 NA18522.hp1 NA18951.hp2 NA20300.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0010	a0001c0001 a0002c0002 a0008c0022 others(1): Show a0001c0001 a0002c0002 a0008c0022 a0010c0021	a0001c0001t0066 a0001c0001t0111 a0002c0002t0011 others(22): Show a0001c0001t0066 a0001c0001t0111 a0002c0002t0011 a0002c0002t0013 a0002c0002t0014 a0002c0002t0019 a0002c0002t0020 a0002c0002t0026 a0002c0002t0027 a0002c0002t0028 a0002c0002t0055 a0002c0002t0056 a0002c0002t0057 a0002c0002t0061 a0002c0002t0062 a0002c0002t0063 a0002c0002t0064 a0002c0002t0065 a0002c0002t0067 a0002c0002t0088 a0002c0002t0089 a0002c0002t0090 a0002c0002t0095 a0008c0022t0112 a0010c0021t0091	a0001c0001t0066g0094 a0001c0001t0111g0278 a0002c0002t0011g0048 others(33): Show a0001c0001t0066g0094 a0001c0001t0111g0278 a0002c0002t0011g0048 a0002c0002t0011g0049 a0002c0002t0011g0050 a0002c0002t0013g0016 a0002c0002t0013g0018 a0002c0002t0013g0029 a0002c0002t0014g0020 a0002c0002t0014g0024 a0002c0002t0014g0033 a0002c0002t0019g0052 a0002c0002t0019g0062 a0002c0002t0020g0010 a0002c0002t0020g0053 a0002c0002t0026g0023 a0002c0002t0026g0030 a0002c0002t0027g0019 a0002c0002t0027g0028 a0002c0002t0028g0021 a0002c0002t0028g0022 a0002c0002t0055g0046 a0002c0002t0056g0045 a0002c0002t0057g0025 a0002c0002t0061g0027 a0002c0002t0062g0032 a0002c0002t0063g0026 a0002c0002t0064g0017 a0002c0002t0065g0014 a0002c0002t0067g0104 a0002c0002t0088g0213 a0002c0002t0089g0163 a0002c0002t0090g0214 a0002c0002t0095g0212 a0008c0022t0112g0283 a0010c0021t0091g0204	36	152	0.2368	-38	c.262 others(55): Show c.2624-401_2624-364delCACACACACACACACACACACACACACA CATATATATA	PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	15/19			chr15	TogoVar
PSD3_chr8_18522303_19018703	18865224	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02698.hp1 HG02615.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0069 a0001c0013t0001 a0001c0001t0069 a0001c0013t0001	a0001c0001t0069g0018 a0001c0013t0001g0101 a0001c0001t0069g0018 a0001c0013t0001g0101	2	183	0.0109	-38	c.163 others(57): Show c.1634+2412_1634+2449delTATATATATATATATATATATATATA TATATATATATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15			chr8	TogoVar
PSMB7_chr9_124348465_124420442	124414128	AAAACTCA others(31): Show AAAACTCATAGCAAAAATATTGTGCTACACTTTCAGGAT	A A	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	406	0.0025	-38	c.157 others(53): Show c.157-161_157-124delATCCTGAAAGTGTAGCACAATATTTTTGCT ATGAGTTT	PSMB7	ENSG00000136930.13	transcript	ENST00000259457.8	protein_coding	2/7			chr9	TogoVar
PSMD1_chr2_231051867_231177827	231165024	TTATATAT others(31): Show TTATATATATTTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00558.hp2 others(64): Show HG00408.hp2 HG00423.hp2 HG00558.hp2 HG01070.hp2 HG01243.hp1 HG01346.hp1 HG01928.hp1 HG01952.hp1 HG02015.hp2 HG02055.hp2 HG02080.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02300.hp2 HG02615.hp2 HG02647.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp2 HG03688.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 NA18943.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18955.hp1 NA18963.hp1 NA18964.hp1 NA18969.hp1 NA18970.hp2 NA18981.hp2 NA18985.hp2 NA18993.hp2 NA18994.hp2 NA18999.hp2 NA19004.hp2 NA19007.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19060.hp1 NA19065.hp1 NA19066.hp1 NA19072.hp1 NA19079.hp2 NA19085.hp2 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0001g0087 a0001c0001t0001g0131 others(62): Show a0001c0001t0001g0001 a0001c0001t0001g0087 a0001c0001t0001g0131 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0321 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0343 a0001c0001t0002g0268 a0001c0001t0006g0279	67	215	0.3116	-38	c.248 others(55): Show c.2482-166_2482-129delTTATATATATATATATATATATATATAT ATATATATAT	PSMD1	ENSG00000173692.14	transcript	ENST00000308696.11	protein_coding	21/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSORS1C1_chr6_31109800_31145092	31110087	AGAGAGTC others(31): Show AGAGAGTCCAAGCTGGGAAAAGAATCAGGTGAGGAGGTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	448	0.0022	-38	c.-50 others(49): Show c.-5032_-4995delGAGAGTCCAAGCTGGGAAAAGAATCAGGTGAGGA GGTT	PSORS1C1	ENSG00000204540.11	transcript	ENST00000259881.10	protein_coding		4712		chr6	TogoVar
PSTPIP2_chr18_45978536_46077260	45987497	TGTAGCTC others(31): Show TGTAGCTCAGTCCACACTGAGATCAGGAATATGTAAGTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00544.hp1 others(100): Show HG00099.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG00733.hp2 HG01069.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01346.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp2 HG02004.hp2 HG02109.hp2 HG02135.hp2 HG02148.hp1 HG02280.hp1 HG02280.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03688.hp2 HG03834.hp1 HG04199.hp1 NA18522.hp2 NA18747.hp1 NA18942.hp2 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18961.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18977.hp2 NA18984.hp2 NA18987.hp1 NA18990.hp1 NA18992.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19065.hp1 NA19074.hp2 NA19078.hp1 NA19079.hp1 NA19081.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19090.hp2 NA20300.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0006 a0002c0002 a0002c0003 a0002c0006	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(8): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0009 a0002c0002t0011 a0002c0002t0018 a0002c0002t0021 a0002c0003t0002 a0002c0006t0002	a0002c0002t0001g0109 a0002c0002t0002g0002 a0002c0002t0002g0020 others(98): Show a0002c0002t0001g0109 a0002c0002t0002g0002 a0002c0002t0002g0020 a0002c0002t0002g0025 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0055 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0085 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0113 a0002c0002t0002g0115 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0154 a0002c0002t0002g0162 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0184 a0002c0002t0002g0215 a0002c0002t0002g0223 a0002c0002t0002g0243 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0261 a0002c0002t0004g0272 a0002c0002t0004g0276 a0002c0002t0004g0291 a0002c0002t0004g0293 a0002c0002t0004g0301 a0002c0002t0005g0003 a0002c0002t0005g0136 a0002c0002t0005g0137 a0002c0002t0005g0139 a0002c0002t0005g0140 a0002c0002t0006g0009 a0002c0002t0006g0010 a0002c0002t0006g0012 a0002c0002t0006g0147 a0002c0002t0006g0158 a0002c0002t0006g0229 a0002c0002t0009g0027 a0002c0002t0009g0112 a0002c0002t0009g0138 a0002c0002t0011g0264 a0002c0002t0011g0280 a0002c0002t0018g0067 a0002c0002t0021g0263 a0002c0003t0002g0250 a0002c0003t0002g0253 a0002c0006t0002g0260	103	314	0.3280	-38	c.8+ others(53): Show c.8+1167_*8+1204delCACTTACATATTCCTGATCTCAGTGTGGAC TGAGCTAC	PSTPIP2	ENSG00000152229.18	transcript	ENST00000409746.5	protein_coding	14/14			chr18	TogoVar
PTCHD1_chrX_23329849_23409374	23342278	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02145.hp1 others(13): Show HG01891.hp2 HG02055.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02622.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03098.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0026 others(13): Show a0001c0001t0006 a0001c0001t0010 a0001c0001t0026 a0001c0001t0031 a0001c0001t0033 a0001c0001t0035 a0001c0001t0048 a0001c0001t0097 a0001c0001t0101 a0001c0001t0103 a0001c0001t0109 a0001c0001t0148 a0001c0001t0154 a0001c0001t0157 a0001c0001t0159 a0001c0001t0171	a0001c0001t0006g0260 a0001c0001t0010g0251 a0001c0001t0026g0245 others(13): Show a0001c0001t0006g0260 a0001c0001t0010g0251 a0001c0001t0026g0245 a0001c0001t0031g0257 a0001c0001t0033g0252 a0001c0001t0035g0250 a0001c0001t0048g0246 a0001c0001t0097g0201 a0001c0001t0101g0258 a0001c0001t0103g0248 a0001c0001t0109g0256 a0001c0001t0148g0247 a0001c0001t0154g0259 a0001c0001t0157g0249 a0001c0001t0159g0253 a0001c0001t0171g0202	16	292	0.0548	-38	c.351 others(55): Show c.351+7054_351+7091delATATATATATATATATATATATATATAT ATATTTTTTT	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
PTCHD1_chrX_23329849_23409374	23342280	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00733.hp2 HG02647.hp1 others(4): Show HG00673.hp1 HG00733.hp2 HG02647.hp1 HG02886.hp1 HG02970.hp1 HG03195.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0010 a0001c0001t0031 a0001c0002t0032 others(4): Show a0001c0001t0010 a0001c0001t0031 a0001c0002t0032 a0001c0002t0067 a0001c0003t0007 a0001c0003t0102 a0001c0003t0122	a0001c0001t0010g0287 a0001c0001t0031g0255 a0001c0002t0032g0254 others(4): Show a0001c0001t0010g0287 a0001c0001t0031g0255 a0001c0002t0032g0254 a0001c0002t0067g0212 a0001c0003t0007g0268 a0001c0003t0102g0267 a0001c0003t0122g0269	7	276	0.0254	-38	c.351 others(55): Show c.351+7056_351+7093delATATATATATATATATATATATATATAT ATTTTTTTTT	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
PTCHD1_chrX_23329849_23409374	23342282	ATATATAT others(31): Show ATATATATATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01346.hp2 HG01361.hp1 others(7): Show HG00408.hp2 HG01346.hp2 HG01361.hp1 HG01981.hp2 HG02080.hp1 HG02083.hp1 HG02683.hp2 HG02717.hp1 HG03669.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0081 a0001c0001t0085 others(7): Show a0001c0001t0008 a0001c0001t0081 a0001c0001t0085 a0001c0001t0091 a0001c0001t0107 a0001c0001t0145 a0001c0002t0002 a0001c0002t0011 a0001c0002t0139 a0001c0002t0144	a0001c0001t0008g0213 a0001c0001t0081g0214 a0001c0001t0085g0216 others(7): Show a0001c0001t0008g0213 a0001c0001t0081g0214 a0001c0001t0085g0216 a0001c0001t0091g0025 a0001c0001t0107g0217 a0001c0001t0145g0215 a0001c0002t0002g0211 a0001c0002t0011g0289 a0001c0002t0139g0208 a0001c0002t0144g0219	10	261	0.0383	-38	c.351 others(55): Show c.351+7058_351+7095delATATATATATATATATATATATATATAT TTTTTTTTTT	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
PTCHD1_chrX_23329849_23409374	23342284	ATATATAT others(31): Show ATATATATATATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18985.hp2 HG03239.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0044 a0001c0001t0013 a0001c0002t0044	a0001c0001t0013g0026 a0001c0002t0044g0218 a0001c0001t0013g0026 a0001c0002t0044g0218	2	171	0.0117	-38	c.351 others(55): Show c.351+7060_351+7097delATATATATATATATATATATATATATTT TTTTTTTTTT	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar

Search by Variant

Search

Search Results