Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

Show

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
POR_chr7_75910155_75991855	75989077	T T	TGGAGGGG others(40): Show TGGAGGGGGTGGAGGTTGAGGGGGGGGAGGGGTGGAGGTTGAGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0246 a0001c0002t0001g0246	1	278	0.0036	47	c.25 others(58): Show c.2596_*2597insGGAGGGGGTGGAGGTTGAGGGGGGGGAGGGGTGG AGGTTGAGGGGGG	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		2223		chr7	TogoVar
POR_chr7_75910155_75991855	75989094	A A	AGGGGGGG others(40): Show AGGGGGGGGAGGGGTGGAGGTTGAGGGGGGGGAGGGGTGGAGGTTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0262 a0001c0002t0001g0262	1	278	0.0036	47	c.26 others(58): Show c.2613_*2614insGGGGGGGGAGGGGTGGAGGTTGAGGGGGGGGAGG GGTGGAGGTTGAG	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		2240		chr7	TogoVar
PPARA_chr22_46145526_46248755	46205554	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0186 a0001c0001t0018g0187 a0001c0001t0018g0186 a0001c0001t0018g0187	2	200	0.0100	47	c.208 others(64): Show c.208+6964_208+6965insATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTT	PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPEF2_chr4_75854867_75907452	75877006	A A	AAAGAAAG others(40): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	270	0.0037	47	c.934 others(62): Show c.934-334_934-333insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTT	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	10/16			chr4	TogoVar
PPEF2_chr4_75854867_75907452	75877039	A A	AAAGAAAG others(40): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	270	0.0037	47	c.934 others(62): Show c.934-367_934-366insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTT	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	10/16			chr4	TogoVar
PPHLN1_chr12_42321167_42447181	42360110	C C	CAAAAAAA others(40): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	376	0.0027	47	c.299 others(64): Show c.299+4901_299+4902insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA	PPHLN1	ENSG00000134283.18	transcript	ENST00000358314.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PPIAL4H_chr1_146339006_146349765	146345087	T T	TTTCTTTC others(40): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	416	0.0024	47	c.-37 others(56): Show c.-373_-372insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAA	PPIAL4H	ENSG00000270339.4	transcript	ENST00000584068.4	protein_coding		323		chr1	TogoVar
PPL_chr16_4877507_4942148	4920345	G G	GAGAGAGA others(40): Show GAGAGAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp2 HG00735.hp2 HG00741.hp2	a0001 a0048 a0001 a0048	a0001c0031 a0048c0068 a0001c0031 a0048c0068	a0001c0031t0001 a0048c0068t0001 a0001c0031t0001 a0048c0068t0001	a0001c0031t0001g0167 a0048c0068t0001g0246 a0001c0031t0001g0167 a0048c0068t0001g0246	2	372	0.0054	47	c.63- others(62): Show c.63-9397_63-9396insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTCTCTCT	PPL	ENSG00000118898.16	transcript	ENST00000345988.7	protein_coding	1/21			chr16	TogoVar
PPL_chr16_4877507_4942148	4920371	G G	GAAAGAAA others(40): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp1 HG01081.hp2 others(32): Show HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG02056.hp2 HG02132.hp2 HG02602.hp2 HG02723.hp1 HG02735.hp1 HG02922.hp2 HG03491.hp1 HG03491.hp2 HG03654.hp1 HG03688.hp2 HG03927.hp2 NA18939.hp1 NA18944.hp2 NA18951.hp1 NA18963.hp1 NA18977.hp1 NA18980.hp1 NA19009.hp1 NA19055.hp2 NA19064.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0005 a0011 a0015 a0026 a0028 a0031 a0035 a0045	a0001c0001 a0001c0031 a0001c0055 others(11): Show a0001c0001 a0001c0031 a0001c0055 a0002c0002 a0002c0007 a0003c0028 a0005c0005 a0011c0014 a0015c0020 a0026c0040 a0028c0042 a0031c0047 a0035c0053 a0045c0057	a0001c0001t0001 a0001c0031t0001 a0001c0055t0001 others(12): Show a0001c0001t0001 a0001c0031t0001 a0001c0055t0001 a0002c0002t0002 a0002c0007t0003 a0003c0028t0002 a0005c0005t0002 a0005c0005t0012 a0011c0014t0001 a0015c0020t0001 a0026c0040t0001 a0028c0042t0001 a0031c0047t0001 a0035c0053t0015 a0045c0057t0002	a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0172 others(32): Show a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0172 a0001c0001t0001g0187 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0214 a0001c0001t0001g0223 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0335 a0001c0031t0001g0168 a0001c0055t0001g0117 a0002c0002t0002g0007 a0002c0002t0002g0012 a0002c0002t0002g0111 a0002c0002t0002g0127 a0002c0002t0002g0140 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0255 a0002c0007t0003g0319 a0003c0028t0002g0156 a0005c0005t0002g0173 a0005c0005t0012g0194 a0005c0005t0012g0197 a0011c0014t0001g0090 a0015c0020t0001g0188 a0026c0040t0001g0220 a0028c0042t0001g0196 a0031c0047t0001g0181 a0035c0053t0015g0139 a0045c0057t0002g0267	35	372	0.0941	47	c.63- others(62): Show c.63-9423_63-9422insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTT	PPL	ENSG00000118898.16	transcript	ENST00000345988.7	protein_coding	1/21			chr16	TogoVar
PPP3CA_chr4_101018418_101352526	101090985	C C	CATATCTG others(40): Show CATATCTGTGTCTATATTATAATATACACACATATCTGTGTCTATATT	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18522.hp1 HG02886.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0031 a0001c0001t0023 a0001c0001t0031	a0001c0001t0023g0106 a0001c0001t0031g0006 a0001c0001t0023g0106 a0001c0001t0031g0006	2	192	0.0104	47	c.782 others(64): Show c.782+2790_782+2791insAATATAGACACAGATATGTGTGTATATT ATAATATAGACACAGATAT	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	6/13			chr4	TogoVar
PPP4R3A_chr14_91452508_91515310	91507340	T T	TAGTATAT others(40): Show TAGTATATATACTATATAGTATATATACTATATAGTATATATACTATA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	370	0.0027	47	c.142 others(64): Show c.142+2165_142+2166insTATAGTATATATACTATATAGTATATAT ACTATATAGTATATATACT	PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	1/14			chr14	TogoVar
PPTC7_chr12_110528245_110588318	110564769	C C	CATATATA others(40): Show CATATATATATACATACACGTTATATATATATACACGTATATGTATAT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	328	0.0031	47	c.224 others(66): Show c.224-12802_224-12801insATATACATATACGTGTATATATATAT AACGTGTATGTATATATATAT	PPTC7	ENSG00000196850.6	transcript	ENST00000354300.5	protein_coding	1/5			chr12	TogoVar
PPTC7_chr12_110528245_110588318	110564772	A A	ATATATAT others(40): Show ATATATATACATACACGTTATATATATATACACGTATATGTATATGTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG01884.hp2 others(24): Show HG00423.hp2 HG00558.hp1 HG01884.hp2 HG02071.hp2 HG02572.hp1 HG02698.hp2 HG02886.hp1 HG02970.hp2 HG03098.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 NA18522.hp2 NA18946.hp1 NA18947.hp1 NA18959.hp1 NA18973.hp1 NA18989.hp1 NA19010.hp2 NA19030.hp2 NA19056.hp1 NA19063.hp1 NA19077.hp1 NA19081.hp1 NA19088.hp1 NA19090.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0021 others(2): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0021 a0001c0001t0026 a0001c0001t0031	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 others(24): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0011g0059 a0001c0001t0011g0269 a0001c0001t0021g0280 a0001c0001t0026g0054 a0001c0001t0031g0320	27	328	0.0823	47	c.224 others(66): Show c.224-12851_224-12805dupCACATATACATATACGTGTATATATA TATAACGTGTATGTATATATA	PPTC7	ENSG00000196850.6	transcript	ENST00000354300.5	protein_coding	1/5			chr12	TogoVar
PRAME_chr22_22542701_22564265	22559817	G G	GCTGATAA others(40): Show GCTGATAAAACCGTTGTTTCACCTTTGAAACAGAGACTCAGCCTCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	399	0.0025	47	c.-96 others(56): Show c.-961_-960insGGGGAGGCTGAGTCTCTGTTTCAAAGGTGAAACAAC GGTTTTATCAG	PRAME	ENSG00000185686.18	transcript	ENST00000405655.8	protein_coding		553		chr22	TogoVar
PRDM12_chr9_130659594_130687983	130680659	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0038 a0002c0001t0004g0038	1	392	0.0026	47	c.683 others(62): Show c.683-588_683-587insATATATATATATATATATATATATATATAT ATATATATTTTTTTTTT	PRDM12	ENSG00000130711.5	transcript	ENST00000253008.3	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRDM15_chr21_41793225_41884344	41806659	C C	CCACCCAT others(40): Show CCACCCATCACCATCACCACCAGCACCACCCATCACTACCACCACCAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG04199.hp2 HG04228.hp1 others(2): Show HG02698.hp1 HG04199.hp2 HG04228.hp1 NA20129.hp1 NA20752.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0018 a0001c0013t0001g0183 a0001c0013t0001g0185 others(2): Show a0001c0013t0001g0018 a0001c0013t0001g0183 a0001c0013t0001g0185 a0001c0013t0001g0339 a0001c0013t0001g0362	5	406	0.0123	47	c.265 others(66): Show c.2653-2046_2653-2045insATGGTGGTGGTAGTGATGGGTGGTGC TGGTGGTGATGGTGATGGGTG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41814018	T T	TTTATGAG others(40): Show TTTATGAGAATGCCTCGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00597.hp2 others(44): Show HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG01167.hp1 HG01169.hp1 HG02015.hp1 HG02027.hp1 HG02055.hp2 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02300.hp1 HG02572.hp1 HG02647.hp1 HG02735.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03669.hp2 NA18522.hp1 NA18612.hp2 NA18951.hp2 NA18970.hp2 NA18975.hp1 NA18984.hp2 NA18988.hp2 NA18990.hp1 NA18994.hp2 NA19000.hp2 NA19005.hp2 NA19010.hp2 NA19054.hp1 NA19065.hp2 NA19067.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19088.hp2 NA19091.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0006 others(3): Show a0001c0001 a0001c0005 a0001c0006 a0001c0011 a0001c0056 a0002c0050	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 others(8): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0005t0004 a0001c0005t0049 a0001c0006t0004 a0001c0006t0010 a0001c0006t0013 a0001c0011t0010 a0001c0056t0004 a0002c0050t0005	a0001c0001t0002g0226 a0001c0001t0004g0057 a0001c0001t0004g0168 others(44): Show a0001c0001t0002g0226 a0001c0001t0004g0057 a0001c0001t0004g0168 a0001c0001t0004g0171 a0001c0001t0004g0180 a0001c0001t0004g0193 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0004g0218 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0227 a0001c0001t0004g0228 a0001c0001t0004g0242 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0253 a0001c0001t0004g0258 a0001c0001t0004g0354 a0001c0001t0004g0386 a0001c0001t0004g0387 a0001c0001t0004g0388 a0001c0001t0004g0390 a0001c0001t0004g0391 a0001c0001t0010g0271 a0001c0005t0004g0325 a0001c0005t0049g0403 a0001c0006t0004g0137 a0001c0006t0010g0061 a0001c0006t0010g0392 a0001c0006t0013g0353 a0001c0011t0010g0020 a0001c0011t0010g0023 a0001c0011t0010g0116 a0001c0011t0010g0300 a0001c0011t0010g0357 a0001c0011t0010g0379 a0001c0011t0010g0389 a0001c0056t0004g0229 a0002c0050t0005g0244	47	406	0.1158	47	c.239 others(66): Show c.2392+1640_2392+1686dupCACACTAGAGCACCCTGCGCAATCAC TAACACGAGGCATTCTCATAA	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	19/23			chr21	TogoVar
PRDM16_chr1_3064203_3443621	3120035	T T	TGCAGGTG others(40): Show TGCAGGTGCCTCCCTCAGGGCTGAAGAAGCCCAGTGAGAGACTGGGGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp2 HG01243.hp2 others(6): Show HG00735.hp2 HG01069.hp2 HG01243.hp2 HG01255.hp2 HG01517.hp2 HG02602.hp2 HG02738.hp2 HG03239.hp1 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0021 a0001c0001t0070 a0001c0002t0001 a0001c0002t0002 a0002c0003t0029	a0001c0001t0001g0096 a0001c0001t0006g0155 a0001c0001t0008g0064 others(6): Show a0001c0001t0001g0096 a0001c0001t0006g0155 a0001c0001t0008g0064 a0001c0001t0021g0088 a0001c0001t0021g0089 a0001c0001t0070g0100 a0001c0002t0001g0095 a0001c0002t0002g0091 a0002c0003t0029g0106	9	210	0.0429	47	c.37+ others(64): Show c.37+50741_37+50742insAGGTGCCTCCCTCAGGGCTGAAGAAGCC CAGTGAGAGACTGGGGCGC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3120035	T T	TGCTGGTG others(40): Show TGCTGGTGCCTCCCTCAGGGCTGAAGAAGCCCAGTGAGAGACTGGGGC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03130.hp1 HG03225.hp2 others(3): Show HG02970.hp2 HG03130.hp1 HG03225.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0008 a0002c0003 others(2): Show a0001c0001 a0001c0008 a0002c0003 a0002c0007 a0005c0018	a0001c0001t0001 a0001c0008t0040 a0002c0003t0013 others(2): Show a0001c0001t0001 a0001c0008t0040 a0002c0003t0013 a0002c0007t0001 a0005c0018t0012	a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0008t0040g0021 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0008t0040g0021 a0002c0003t0013g0137 a0002c0007t0001g0001 a0005c0018t0012g0030	6	210	0.0286	47	c.37+ others(64): Show c.37+50751_37+50752insCTCAGGGCTGAAGAAGCCCAGTGAGAGA CTGGGGCGCTGGTGCCTCC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3287226	A A	AGCCACGC others(40): Show AGCCACGCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGCCGCCCC	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA19043.hp1 HG03195.hp1 NA19043.hp1	a0001 a0006 a0001 a0006	a0001c0006 a0006c0023 a0001c0006 a0006c0023	a0001c0006t0013 a0006c0023t0025 a0001c0006t0013 a0006c0023t0025	a0001c0006t0013g0133 a0006c0023t0025g0007 a0001c0006t0013g0133 a0006c0023t0025g0007	2	210	0.0095	47	c.438 others(66): Show c.438+43129_438+43130insCCGCCCCGCCACGCGGGCATCCAGGA TTGCATTTACCGGGGCTGGAG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3287271	C C	CCCGCCAC others(40): Show CCCGCCACGCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGGCGCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00673.hp2 others(13): Show HG00140.hp1 HG00423.hp2 HG00673.hp2 HG02523.hp2 NA18522.hp2 NA18747.hp1 NA18966.hp2 NA18970.hp1 NA18990.hp2 NA19005.hp2 NA19010.hp2 NA19067.hp2 NA19079.hp1 NA19080.hp1 NA19085.hp2 NA19091.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0009 others(2): Show a0001c0001 a0001c0002 a0001c0009 a0001c0020 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0023 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0023 a0001c0001t0043 a0001c0001t0048 a0001c0001t0066 a0001c0001t0069 a0001c0002t0001 a0001c0002t0018 a0001c0002t0038 a0001c0009t0005 a0001c0020t0005 a0004c0010t0026 a0004c0010t0060	a0001c0001t0001g0183 a0001c0001t0002g0011 a0001c0001t0023g0112 others(13): Show a0001c0001t0001g0183 a0001c0001t0002g0011 a0001c0001t0023g0112 a0001c0001t0043g0060 a0001c0001t0048g0151 a0001c0001t0066g0092 a0001c0001t0069g0115 a0001c0002t0001g0014 a0001c0002t0001g0187 a0001c0002t0001g0210 a0001c0002t0018g0085 a0001c0002t0038g0077 a0001c0009t0005g0200 a0001c0020t0005g0196 a0004c0010t0026g0122 a0004c0010t0060g0087	16	210	0.0762	47	c.438 others(66): Show c.438+43176_438+43177insGCGCTCCGCCACGCGGGCATCCAGGA TTGCATTTACCGGGGCTGGAG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRIMA1_chr14_93713298_93793485	93734670	G G	GGAAGAAG others(40): Show GGAAGAAGCCCCGCCCACACCACATAAGGATCCCCGCCCATGCCTCTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00408.hp2 others(78): Show HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01346.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01975.hp2 HG02015.hp1 HG02055.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02300.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02717.hp2 HG02965.hp2 HG03098.hp2 HG03130.hp1 HG03239.hp2 HG03704.hp2 HG06807.hp2 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18952.hp2 NA18960.hp2 NA18963.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18990.hp1 NA19001.hp2 NA19005.hp1 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19064.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19089.hp1 NA19090.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0021 a0001c0002t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0014 a0001c0003t0022 a0001c0004t0001 a0001c0005t0001 a0001c0006t0002 a0001c0006t0003 a0001c0006t0007 a0001c0006t0008 a0001c0006t0013 a0001c0006t0015 a0001c0006t0017	a0001c0001t0001g0038 a0001c0001t0001g0140 a0001c0001t0001g0141 others(78): Show a0001c0001t0001g0038 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0167 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0111 a0001c0001t0002g0147 a0001c0001t0002g0207 a0001c0001t0002g0348 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0380 a0001c0001t0003g0048 a0001c0001t0003g0089 a0001c0001t0003g0103 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0115 a0001c0001t0003g0121 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0176 a0001c0001t0003g0264 a0001c0001t0003g0294 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0364 a0001c0001t0003g0375 a0001c0001t0008g0328 a0001c0001t0009g0112 a0001c0001t0009g0329 a0001c0001t0012g0097 a0001c0001t0021g0235 a0001c0002t0001g0114 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0300 a0001c0002t0001g0302 a0001c0002t0001g0347 a0001c0003t0002g0206 a0001c0003t0002g0234 a0001c0003t0002g0285 a0001c0003t0002g0311 a0001c0003t0003g0085 a0001c0003t0003g0086 a0001c0003t0003g0244 a0001c0003t0003g0256 a0001c0003t0003g0257 a0001c0003t0003g0288 a0001c0003t0014g0199 a0001c0003t0022g0084 a0001c0004t0001g0036 a0001c0004t0001g0041 a0001c0004t0001g0042 a0001c0004t0001g0071 a0001c0004t0001g0078 a0001c0004t0001g0186 a0001c0005t0001g0093 a0001c0005t0001g0185 a0001c0005t0001g0313 a0001c0006t0002g0210 a0001c0006t0003g0092 a0001c0006t0003g0229 a0001c0006t0007g0218 a0001c0006t0008g0344 a0001c0006t0013g0305 a0001c0006t0015g0343 a0001c0006t0017g0304	81	397	0.2040	47	c.359 others(64): Show c.359+2524_359+2570dupTAGAGGCATGGGCGGGGATCCTTATGTG GTGTGGGCGGGGCTTCTTC	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRIMA1_chr14_93713298_93793485	93737431	A A	AGGTGGGA others(40): Show AGGTGGGACCATCATGGGTGACACCAACAGAGGCGTGGGGAGGTCACT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0024 a0001c0004t0001g0024	1	397	0.0025	47	c.230 others(61): Show c.230-108_230-62dupAGTGACCTCCCCACGCCTCTGTTGGTGTCAC CCATGATGGTCCCACC	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	3/4			chr14	TogoVar
PRKCB_chr16_23830983_24225611	23902780	T T	TCCTTCCT others(40): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03453.hp1 HG02615.hp2 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0008 a0001c0010t0006 a0001c0003t0008 a0001c0010t0006	a0001c0003t0008g0140 a0001c0010t0006g0144 a0001c0003t0008g0140 a0001c0010t0006g0144	2	148	0.0135	47	c.205 others(66): Show c.205+65377_205+65378insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCTTCCTCCCTCCCT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23902780	T T	TCCTTCCT others(40): Show TCCTTCCTTCCTTCCTTCCTTCCTTCTTCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0139 a0001c0002t0035g0139	1	148	0.0068	47	c.205 others(66): Show c.205+65377_205+65378insTCCTTCCTTCCTTCCTTCCTTCTTCC TCCCTCCCTCCCTCCCTCCCT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCZ_chr1_2045411_2190395	2123651	T T	TTAGGGTG others(40): Show TTAGGGTGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTGG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	286	0.0035	47	c.335 others(66): Show c.335-11605_335-11604insGGTGGTGGTTAGGGTCACGGCGGTGG TTAGGGTCACGGTGGTAGGGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKG1_chr10_51069487_52303350	51836460	T T	TTGGGGTC others(40): Show TTGGGGTCATATCCAAGAAATCTCTACCCAAAGCAATGTCATGGAACA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0004	1	64	0.0156	47	c.698 others(66): Show c.698+31814_698+31815insACATGGGGTCATATCCAAGAAATCTC TACCCAAAGCAATGTCATGGA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKX_chrX_3599340_3718649	3639432	T T	TGGGGGTG others(40): Show TGGGGGTGGATGGATGAAGGGGTGGGGGGGTGGATGGATGAAGGGGTA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0040 a0001c0002t0013g0040	1	227	0.0044	47	c.719 others(64): Show c.719+2373_719+2419dupTACCCCTTCATCCATCCACCCCCCCACC CCTTCATCCATCCACCCCC	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8			chrX	TogoVar
PROX1_chr1_213982973_214046510	213984706	T T	TTCAAAAA others(40): Show TTCAAAAAAAAAAAAAAAAAAAAAACAAAAATAAAAAGAAATAGATGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0116 a0001c0001t0023g0116	1	274	0.0037	47	c.-38 others(58): Show c.-3845_-3844insTCAAAAAAAAAAAAAAAAAAAAAACAAAAATAAA AAGAAATAGATGA	PROX1	ENSG00000117707.17	transcript	ENST00000366958.9	protein_coding		3266		chr1	TogoVar
PROZ_chr13_113153648_113177386	113154227	G G	GGCGGGGC others(40): Show GGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	378	0.0027	47	c.-44 others(58): Show c.-4434_-4433insGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACGC AGGGCGCGGGGGA	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding		4420		chr13	TogoVar
PRR14L_chr22_31676347_31755132	31677604	A A	AAAAAAAA others(40): Show AAAAAAAAATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0058 a0002c0002t0003g0058	1	316	0.0032	47	c.79 others(58): Show c.7922_*7923insATATATATATATATATATATATATATATATATAT ATATATTTTTTTT	PRR14L	ENSG00000183530.14	transcript	ENST00000327423.11	protein_coding		3742		chr22	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(40): Show CTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0006 a0009c0015t0006	a0009c0015t0006g0115 a0009c0015t0006g0115	1	216	0.0046	47	c.-51 others(64): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTTCTTTCTT TCTTTCTTTTCTTTTTTTT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRSS41_chr16_2793470_2810304	2802014	T T	TGGGGCTG others(40): Show TGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02647.hp1 HG02717.hp2 others(6): Show HG01346.hp2 HG02647.hp1 HG02717.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03486.hp1 NA19043.hp1 NA19240.hp2	a0004 a0005 a0004 a0005	a0004c0003 a0005c0005 a0004c0003 a0005c0005	a0004c0003t0001 a0005c0005t0002 a0004c0003t0001 a0005c0005t0002	a0004c0003t0001g0006 a0005c0005t0002g0013 a0004c0003t0001g0006 a0005c0005t0002g0013	9	426	0.0211	47	c.542 others(64): Show c.542-2361_542-2360insACCTCCCTCCCGGATGGGGCGGCTGGCC TGGCGGGGGCTGACCCCCC	PRSS41	ENSG00000215148.11	transcript	ENST00000399677.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
PSAT1_chr9_78292125_78335093	78326955	A A	ATATATAT others(40): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0332 a0001c0001t0003g0332	1	416	0.0024	47	c.870 others(64): Show c.870-1095_870-1094insATATATATATATATATATTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	PSAT1	ENSG00000135069.14	transcript	ENST00000376588.4	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PSD3_chr8_18522303_19018703	18594213	T T	TTATTATA others(40): Show TTATTATATTATATAATATATATTATTATATACATATTATATAATATA	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18939.hp1 NA18965.hp2 others(2): Show HG02071.hp1 NA18939.hp1 NA18965.hp2 NA18998.hp1 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0027 a0002c0015 others(1): Show a0001c0001 a0001c0027 a0002c0015 a0002c0032	a0001c0001t0001 a0001c0001t0054 a0001c0027t0037 others(2): Show a0001c0001t0001 a0001c0001t0054 a0001c0027t0037 a0002c0015t0001 a0002c0032t0046	a0001c0001t0001g0046 a0001c0001t0054g0083 a0001c0027t0037g0101 others(2): Show a0001c0001t0001g0046 a0001c0001t0054g0083 a0001c0027t0037g0101 a0002c0015t0001g0129 a0002c0032t0046g0116	5	228	0.0219	47	c.248 others(66): Show c.2481+6150_2481+6151insTATATTATATAATATGTATATAATAA TATATATTATATAATATAATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	12/15			chr8	TogoVar
PSME4_chr2_53859069_53975993	53940955	A A	ATTTAAAT others(40): Show ATTTAAATATATATATAATACATATATAAATATATATATATACATATT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0153 a0002c0002t0002g0153	1	384	0.0026	47	c.501 others(62): Show c.501-956_501-955insAATATGTATATATATATATTTATATATGTA TTATATATATATTTAAA	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	3/46			chr2	TogoVar
PSMG4_chr6_3253947_3273049	3260291	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	412	0.0024	47	c.174 others(64): Show c.174+1096_174+1097insATATATATATATATATATATATATATAT ATATATATATATATTTTTT	PSMG4	ENSG00000180822.12	transcript	ENST00000438998.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTGER3_chr1_70965782_71052816	71051611	T T	TTTTTTTT others(40): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	372	0.0027	47	c.-40 others(58): Show c.-4035_-4034insTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	PTGER3	ENSG00000050628.21	transcript	ENST00000306666.10	protein_coding		3796		chr1	TogoVar
PTMS_chr12_6761363_6775952	6767214	T T	TCCCCGCG others(40): Show TCCCCGCGGCCCGACCGTCGCTCGCTTCTCTCCCCGGACGGCGGCCGC	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0052 a0001c0001t0005g0052	1	452	0.0022	47	c.45+ others(60): Show c.45+466_45+512dupCCCGCGGCCCGACCGTCGCTCGCTTCTCTCCC CGGACGGCGGCCGCC	PTMS	ENSG00000159335.19	transcript	ENST00000309083.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTP4A3_chr8_141387021_141437454	141413859	G G	GAAAGATG others(40): Show GAAAGATGCTGTGTGGACAGGACATGGAGGATTCAGGGCTCTTGGTGT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03516.hp2 NA19043.hp1 HG02922.hp1 HG03516.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0031 a0001c0001t0007 a0001c0001t0031	a0001c0001t0007g0070 a0001c0001t0007g0071 a0001c0001t0031g0069 a0001c0001t0007g0070 a0001c0001t0007g0071 a0001c0001t0031g0069	3	323	0.0093	47	c.-85 others(66): Show c.-853-7521_-853-7520insTGTGTGGACAGGACATGGAGGATTCA GGGCTCTTGGTGTAAAGATGC	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTPN23_chr3_47376021_47418435	47417894	G G	GGTGAGAG others(40): Show GGTGAGAGGGGGGCGGGGGGAGGGGGGGTGAGAGGGGGCGGGGGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0069 a0005c0007t0001g0069	1	332	0.0030	47	c.47 others(58): Show c.4709_*4710insGTGAGAGGGGGGCGGGGGGAGGGGGGGTGAGAGG GGGCGGGGGAGAA	PTPN23	ENSG00000076201.16	transcript	ENST00000265562.5	protein_coding		4460		chr3	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	370	0.0027	47	c.859 others(64): Show c.859-5436_859-5435insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0345 a0001c0001t0010g0345	1	370	0.0027	47	c.859 others(64): Show c.859-5436_859-5435insATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18945.hp2 HG00597.hp1 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0329 a0001c0001t0001g0215 a0001c0001t0001g0329	2	370	0.0054	47	c.859 others(64): Show c.859-5436_859-5435insATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPRG_chr3_61556571_62302609	62281538	C C	CTTTTTTT others(40): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03239.hp2 HG02896.hp2 HG03239.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0079 a0002c0003t0001g0067 a0001c0001t0001g0079 a0002c0003t0001g0067	2	94	0.0213	47	c.376 others(62): Show c.3766-12_3766-11insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRQ_chr12_80439235_80685273	80558119	C C	CTTTCTTT others(40): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTTCT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0014 a0014	a0014c0012 a0014c0012	a0014c0012t0001 a0014c0012t0001	a0014c0012t0001g0086 a0014c0012t0001g0086	1	178	0.0056	47	c.428 others(66): Show c.4285+8392_4285+8393insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCCTTTTCTTTTCTTT	PTPRQ	ENSG00000139304.16	transcript	ENST00000644991.3	protein_coding	25/44		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRQ_chr12_80439235_80685273	80558124	T T	TTTCTTTC others(40): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0032 a0032	a0032c0071 a0032c0071	a0032c0071t0003 a0032c0071t0003	a0032c0071t0003g0131 a0032c0071t0003g0131	1	178	0.0056	47	c.428 others(66): Show c.4285+8392_4285+8393insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTT	PTPRQ	ENSG00000139304.16	transcript	ENST00000644991.3	protein_coding	25/44		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRT_chr20_42067756_43194906	42086751	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0001 a0002c0004t0002g0001	1	62	0.0161	47	c.384 others(64): Show c.3847-899_3847-898insATATATATATATATATATATATATATAT ATATATATATATATATATA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	27/30			chr20	TogoVar
PUM2_chr2_20243737_20355844	20274957	C C	CAAAAAAA others(40): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	358	0.0028	47	c.195 others(66): Show c.1957+3625_1957+3626insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PXDN_chr2_1626887_1749515	1711124	T T	TCTCCACC others(40): Show TCTCCACCAGCACCCACTCTCCACCAGCACCCGCTCCACCAGCACCCG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0038 a0001c0003t0002g0038	1	322	0.0031	47	c.201 others(66): Show c.201-17991_201-17990insCGGGTGCTGGTGGAGCGGGTGCTGGT GGAGAGTGGGTGCTGGTGGAG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar

Search by Variant

Search

Search Results