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
PADI3_chr1_17244098_17289233	17264331	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03225.hp2 HG03453.hp2 others(3): Show HG03041.hp2 HG03225.hp2 HG03453.hp2 NA19030.hp1 NA20905.hp1 NA21309.hp2	a0001 a0011 a0014 a0001 a0011 a0014	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0011c0020 a0014c0024	a0001c0001t0005 a0001c0002t0001 a0001c0005t0006 others(2): Show a0001c0001t0005 a0001c0002t0001 a0001c0005t0006 a0011c0020t0003 a0014c0024t0005	a0001c0001t0005g0304 a0001c0001t0005g0305 a0001c0002t0001g0303 others(3): Show a0001c0001t0005g0304 a0001c0001t0005g0305 a0001c0002t0001g0303 a0001c0005t0006g0302 a0011c0020t0003g0190 a0014c0024t0005g0118	6	368	0.0163	-10	c.347 others(27): Show c.347-1305_347-1296delACACACACAC	PADI3	ENSG00000142619.4	transcript	ENST00000375460.3	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI4_chr1_17303197_17369004	17331409	ACACTGCC others(3): Show ACACTGCCAGG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0016 a0016	a0016c0027 a0016c0027	a0016c0027t0001 a0016c0027t0001	a0016c0027t0001g0023 a0016c0027t0001g0023	1	372	0.0027	-10	c.273 others(25): Show c.273+266_273+275delCCAGGCACTG	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI4_chr1_17303197_17369004	17340050	GCGCACAC others(3): Show GCGCACACACA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01099.hp2 others(16): Show HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01106.hp2 HG02145.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG03041.hp2 HG03209.hp2 HG03516.hp2 NA19240.hp1 NA21309.hp1	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0018	a0001c0001 a0004c0006 a0006c0007 others(1): Show a0001c0001 a0004c0006 a0006c0007 a0018c0024	a0001c0001t0001 a0001c0001t0002 a0004c0006t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0004c0006t0001 a0006c0007t0001 a0018c0024t0002	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 others(16): Show a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0336 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0002g0337 a0004c0006t0001g0253 a0004c0006t0001g0260 a0004c0006t0001g0301 a0004c0006t0001g0304 a0004c0006t0001g0358 a0006c0007t0001g0364 a0006c0007t0001g0365 a0006c0007t0001g0366 a0006c0007t0001g0367 a0018c0024t0002g0199	19	372	0.0511	-10	c.652 others(25): Show c.652+239_652+248delGCACACACAC	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI4_chr1_17303197_17369004	17351475	TGGTGCAT others(3): Show TGGTGCATGCC	T T	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	372	0.0027	-10	c.115 others(29): Show c.1156-3057_1156-3048delGGTGCATGCC	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15			chr1	TogoVar
PADI6_chr1_17367196_17406699	17376876	TTTGTTTT others(3): Show TTTGTTTTGTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00423.hp2 others(62): Show HG00099.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00673.hp2 HG00735.hp1 HG02015.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02132.hp1 HG02135.hp2 HG02165.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02683.hp1 HG02698.hp1 HG02965.hp1 HG03486.hp1 HG03490.hp2 HG03704.hp1 HG03831.hp1 HG04199.hp2 HG04204.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp1 NA18956.hp2 NA18959.hp2 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18978.hp1 NA18982.hp1 NA18987.hp2 NA18990.hp1 NA18995.hp1 NA18997.hp2 NA19003.hp1 NA19012.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19077.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0017	a0001c0001t0005 a0001c0001t0006 a0001c0002t0003 others(8): Show a0001c0001t0005 a0001c0001t0006 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0003t0003 a0001c0013t0003 a0001c0014t0003 a0001c0015t0003 a0001c0016t0003 a0001c0017t0003	a0001c0001t0005g0310 a0001c0001t0006g0296 a0001c0002t0003g0001 others(45): Show a0001c0001t0005g0310 a0001c0001t0006g0296 a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0006 a0001c0002t0003g0029 a0001c0002t0003g0292 a0001c0002t0003g0299 a0001c0002t0003g0300 a0001c0002t0003g0301 a0001c0002t0003g0302 a0001c0002t0003g0305 a0001c0002t0003g0307 a0001c0002t0003g0308 a0001c0002t0003g0309 a0001c0002t0003g0315 a0001c0002t0003g0316 a0001c0002t0003g0318 a0001c0002t0003g0319 a0001c0002t0003g0320 a0001c0002t0003g0321 a0001c0002t0003g0322 a0001c0002t0003g0323 a0001c0002t0003g0324 a0001c0002t0003g0325 a0001c0002t0003g0331 a0001c0002t0003g0332 a0001c0002t0003g0334 a0001c0002t0003g0335 a0001c0002t0003g0336 a0001c0002t0003g0337 a0001c0002t0003g0338 a0001c0002t0005g0314 a0001c0002t0006g0030 a0001c0002t0006g0311 a0001c0002t0006g0312 a0001c0002t0006g0313 a0001c0002t0006g0326 a0001c0002t0006g0327 a0001c0002t0006g0328 a0001c0002t0006g0330 a0001c0002t0006g0340 a0001c0003t0003g0333 a0001c0013t0003g0339 a0001c0014t0003g0317 a0001c0015t0003g0329 a0001c0016t0003g0306 a0001c0017t0003g0355	65	412	0.1578	-10	c.367 others(27): Show c.367+1385_367+1394delGTCTTGTTTT	PADI6	ENSG00000276747.1	transcript	ENST00000619609.1	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI6_chr1_17367196_17406699	17377369	TGGAGCTC others(3): Show TGGAGCTCAGA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0338 a0001c0002t0003g0338	1	412	0.0024	-10	c.367 others(27): Show c.367+1878_367+1887delAGAGGAGCTC	PADI6	ENSG00000276747.1	transcript	ENST00000619609.1	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAF1_chr19_39380629_39396106	39393072	CTTTCTTT others(3): Show CTTTCTTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01192.hp2 HG01496.hp1 others(3): Show HG00733.hp2 HG01192.hp2 HG01496.hp1 HG02976.hp1 HG03516.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0005 a0001c0001 a0001c0002 a0004c0005	a0001c0001t0001 a0001c0002t0003 a0004c0005t0001 a0001c0001t0001 a0001c0002t0003 a0004c0005t0001	a0001c0001t0001g0002 a0001c0002t0003g0007 a0004c0005t0001g0036 a0001c0001t0001g0002 a0001c0002t0003g0007 a0004c0005t0001g0036	6	368	0.0163	-10	c.-22 others(21): Show c.-2218_-2209delAGAAAAGAAA	PAF1	ENSG00000006712.15	transcript	ENST00000221265.8	protein_coding		1967		chr19	TogoVar
PAF1_chr19_39380629_39396106	39393081	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG03139.hp2 NA19030.hp2 HG02970.hp1 HG03139.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	368	0.0082	-10	c.-22 others(21): Show c.-2227_-2218delAAAAAAAAAA	PAF1	ENSG00000006712.15	transcript	ENST00000221265.8	protein_coding		1976		chr19	TogoVar
PAFAH1B1_chr17_2588654_2690615	2621605	GTCTTTTT others(3): Show GTCTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA20129.hp2 HG01257.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0198 a0001c0001t0004g0276 a0001c0001t0004g0198 a0001c0001t0004g0276	2	280	0.0071	-10	c.-19 others(31): Show c.-190-16492_-190-16483delCTTTTTTTTT	PAFAH1B1	ENSG00000007168.14	transcript	ENST00000397195.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
PAFAH1B1_chr17_2588654_2690615	2646436	TGAGGTCA others(3): Show TGAGGTCAGGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(154): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02293.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp1 HG02896.hp2 HG02965.hp2 HG03017.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18965.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18983.hp2 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19056.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0040 a0001c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0020 others(154): Show a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0195 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0220 a0001c0001t0002g0029 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0087 a0001c0001t0002g0104 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0194 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0003g0030 a0001c0001t0003g0129 a0001c0001t0005g0004 a0001c0001t0005g0043 a0001c0001t0005g0051 a0001c0001t0005g0059 a0001c0001t0005g0082 a0001c0001t0005g0084 a0001c0001t0005g0089 a0001c0001t0005g0090 a0001c0001t0005g0092 a0001c0001t0005g0098 a0001c0001t0005g0099 a0001c0001t0005g0100 a0001c0001t0005g0101 a0001c0001t0005g0117 a0001c0001t0005g0131 a0001c0001t0005g0152 a0001c0001t0005g0167 a0001c0001t0005g0168 a0001c0001t0005g0211 a0001c0001t0009g0058 a0001c0001t0009g0062 a0001c0001t0009g0083 a0001c0001t0009g0085 a0001c0001t0009g0088 a0001c0001t0009g0107 a0001c0001t0014g0048 a0001c0001t0014g0049 a0001c0001t0016g0001 a0001c0001t0025g0032 a0001c0001t0026g0093 a0001c0001t0027g0159 a0001c0001t0028g0018 a0001c0001t0030g0106 a0001c0001t0031g0091 a0001c0001t0033g0026 a0001c0001t0040g0074 a0001c0005t0001g0094	157	280	0.5607	-10	c.32+ others(25): Show c.32+8118_32+8127delAGGTCAGGAG	PAFAH1B1	ENSG00000007168.14	transcript	ENST00000397195.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
PAFAH1B1_chr17_2588654_2690615	2655183	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA19030.hp1 HG02155.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0036 a0001c0001t0002 a0001c0004t0036	a0001c0001t0002g0234 a0001c0004t0036g0205 a0001c0001t0002g0234 a0001c0004t0036g0205	2	280	0.0071	-10	c.33- others(27): Show c.33-10165_33-10156delGTGTGTGTGT	PAFAH1B1	ENSG00000007168.14	transcript	ENST00000397195.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
PAFAH1B1_chr17_2588654_2690615	2662378	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01257.hp2 HG01891.hp1 others(18): Show HG01255.hp2 HG01257.hp2 HG01891.hp1 HG01952.hp1 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02280.hp1 HG02486.hp2 HG02572.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0029 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0029 a0001c0001t0030 a0001c0002t0006 a0001c0003t0010	a0001c0001t0001g0184 a0001c0001t0004g0230 a0001c0001t0004g0231 others(18): Show a0001c0001t0001g0184 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0235 a0001c0001t0004g0249 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0029g0182 a0001c0001t0030g0106 a0001c0002t0006g0185 a0001c0002t0006g0186 a0001c0002t0006g0187 a0001c0002t0006g0188 a0001c0002t0006g0189 a0001c0002t0006g0190 a0001c0002t0006g0191 a0001c0003t0010g0175 a0001c0003t0010g0176 a0001c0003t0010g0177 a0001c0003t0010g0178 a0001c0003t0010g0179	21	280	0.0750	-10	c.33- others(25): Show c.33-2957_33-2948delTGTGTGTGTG	PAFAH1B1	ENSG00000007168.14	transcript	ENST00000397195.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
PAFAH1B1_chr17_2588654_2690615	2664684	CTCTCTCT others(3): Show CTCTCTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01070.hp1 HG01884.hp1 others(17): Show HG00438.hp2 HG01070.hp1 HG01884.hp1 HG01993.hp2 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02293.hp1 HG02559.hp1 HG02602.hp2 HG02698.hp1 HG02723.hp1 HG02922.hp2 HG02970.hp2 HG03139.hp1 HG03540.hp1 NA19043.hp1 NA19060.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0038	a0001c0001t0002g0234 a0001c0001t0004g0198 a0001c0001t0004g0199 others(17): Show a0001c0001t0002g0234 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0203 a0001c0001t0004g0228 a0001c0001t0004g0232 a0001c0001t0004g0236 a0001c0001t0004g0252 a0001c0001t0011g0233 a0001c0001t0011g0240 a0001c0001t0011g0241 a0001c0001t0011g0242 a0001c0001t0011g0270 a0001c0001t0032g0197 a0001c0001t0034g0251 a0001c0001t0035g0204 a0001c0001t0038g0238	20	280	0.0714	-10	c.33- others(23): Show c.33-679_33-670delTTTCTCTCTC	PAFAH1B1	ENSG00000007168.14	transcript	ENST00000397195.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
PAFAH1B1_chr17_2588654_2690615	2685622	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01109.hp1 HG01257.hp1 others(6): Show HG00099.hp1 HG01109.hp1 HG01257.hp1 HG02630.hp2 HG02698.hp2 HG02922.hp1 HG03225.hp2 HG03516.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0010 a0001c0001t0015 others(2): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0015 a0001c0001t0042 a0001c0004t0036	a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0061 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0103 a0001c0001t0010g0181 a0001c0001t0015g0017 a0001c0001t0042g0015 a0001c0004t0036g0205	9	280	0.0321	-10	c.38 others(21): Show c.3821_*3830delTTTTTTTTTT	PAFAH1B1	ENSG00000007168.14	transcript	ENST00000397195.10	protein_coding		8		chr17	TogoVar
PAFAH1B1_chr17_2588654_2690615	2689685	CACCCCCA others(3): Show CACCCCCAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0098 a0001c0001t0005g0098	1	280	0.0036	-10	c.78 others(21): Show c.7884_*7893delACCCCCAGAG	PAFAH1B1	ENSG00000007168.14	transcript	ENST00000397195.10	protein_coding		4071		chr17	TogoVar
PAFAH1B2_chr11_117139287_117176045	117168419	TTTCCCCT others(3): Show TTTCCCCTTCA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0114 a0001c0001t0063g0114	1	432	0.0023	-10	c.72 others(19): Show c.727_*736delTTCATTCCCC	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding	6/6	727	INFO_REALIGN_3_PRIME	chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172348	TTATATAT others(3): Show TTATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0099	a0001c0001t0099g0156 a0001c0001t0099g0156	1	432	0.0023	-10	c.46 others(21): Show c.4650_*4659delTATATATATA	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1304		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172396	ATATATAT others(3): Show ATATATATATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	432	0.0023	-10	c.46 others(21): Show c.4698_*4707delTATATATATT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1352		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117174164	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0242 a0001c0001t0074g0242	1	432	0.0023	-10	c.64 others(21): Show c.6466_*6475delTGTGTGTGTG	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		3120		chr11	TogoVar
PAFAH1B3_chr19_42292035_42307624	42303064	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02109.hp2 HG02615.hp2 others(6): Show HG01243.hp1 HG02109.hp2 HG02615.hp2 HG02630.hp1 HG02723.hp2 HG02886.hp2 HG03139.hp2 HG03453.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012	9	318	0.0283	-10	c.-76 others(19): Show c.-765_-756delACACACACAC	PAFAH1B3	ENSG00000079462.8	transcript	ENST00000262890.8	protein_coding		441		chr19	TogoVar
PAFAH2_chr1_25954767_26003063	25987237	AAAAATAA others(3): Show AAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01255.hp2 others(19): Show HG01070.hp1 HG01071.hp2 HG01255.hp2 HG02015.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02809.hp1 HG02922.hp2 HG03041.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03834.hp2 NA18522.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0173 a0001c0001t0001g0223 a0001c0001t0001g0224 others(17): Show a0001c0001t0001g0173 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0002g0086 a0001c0001t0003g0100 a0001c0001t0003g0108 a0001c0001t0003g0144 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0005g0030	22	310	0.0710	-10	c.341 others(25): Show c.341+984_341+993delATTTTATTTT	PAFAH2	ENSG00000158006.14	transcript	ENST00000374282.8	protein_coding	4/10			chr1	TogoVar
PAGE1_chrX_49682447_49700984	49689546	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02965.hp1 HG03041.hp2 HG03139.hp1 HG02965.hp1 HG03041.hp2 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0050 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0050	3	322	0.0093	-10	c.293 others(22): Show c.293-13_293-4delTTTTTTTTTT	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAGE1_chrX_49682447_49700984	49689642	ATATGTGT others(3): Show ATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02132.hp1 NA18747.hp1 others(15): Show HG01993.hp2 HG02132.hp1 NA18747.hp1 NA18946.hp2 NA18949.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18984.hp1 NA18992.hp2 NA19001.hp2 NA19003.hp1 NA19006.hp1 NA19056.hp1 NA19067.hp1 NA19068.hp1 NA19072.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0043 a0001c0001t0001g0044 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045	18	322	0.0559	-10	c.293 others(25): Show c.293-109_293-100delCACACACATA	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAGE1_chrX_49682447_49700984	49690029	ATATATAT others(3): Show ATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	322	0.0031	-10	c.293 others(25): Show c.293-496_293-487delCACATATATA	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAGE1_chrX_49682447_49700984	49690056	TGTGTATA others(3): Show TGTGTATATAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03453.hp1 HG02055.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0034 a0001c0001t0002g0035	2	322	0.0062	-10	c.293 others(25): Show c.293-523_293-514delGTATATACAC	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAGE1_chrX_49682447_49700984	49690071	ATATATAT others(3): Show ATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02602.hp1 HG02683.hp1 others(2): Show HG01891.hp2 HG02602.hp1 HG02683.hp1 HG02970.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0153 a0001c0001t0001g0154 others(1): Show a0001c0001t0001g0020 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155	5	322	0.0155	-10	c.293 others(25): Show c.293-538_293-529delCACATATATA	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAGE1_chrX_49682447_49700984	49690102	TATATATA others(3): Show TATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01993.hp2 NA18747.hp1 NA18946.hp2 others(14): Show HG01993.hp2 NA18747.hp1 NA18946.hp2 NA18949.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18984.hp1 NA18992.hp2 NA19001.hp2 NA19003.hp1 NA19006.hp1 NA19056.hp1 NA19067.hp1 NA19068.hp1 NA19072.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0001 a0001c0001t0001g0044 a0001c0001t0001g0045	17	322	0.0528	-10	c.293 others(25): Show c.293-569_293-560delGTGTATATAT	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAGE3_chrX_55253415_55269916	55262703	GATATATA others(3): Show GATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00438.hp2 others(143): Show HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01515.hp1 HG01517.hp2 HG01934.hp1 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02129.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02293.hp1 HG02602.hp1 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG03017.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 NA18747.hp1 NA18939.hp1 NA18940.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18984.hp1 NA18985.hp1 NA18987.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19072.hp1 NA19074.hp1 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA20752.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0003c0004t0002 a0003c0004t0009	a0001c0001t0001g0011 a0001c0001t0001g0035 a0001c0001t0002g0001 others(10): Show a0001c0001t0001g0011 a0001c0001t0001g0035 a0001c0001t0002g0001 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0002t0001g0026 a0003c0004t0002g0003 a0003c0004t0009g0023	146	333	0.4384	-10	c.193 others(25): Show c.193+538_193+547delATATATATAT	PAGE3	ENSG00000204279.8	transcript	ENST00000374951.6	protein_coding	3/4			chrX	TogoVar
PAGE4_chrX_49824303_49839264	49838901	TTTTTGTT others(3): Show TTTTTGTTTTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03540.hp2 HG03209.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0010 a0001c0002t0003g0010	2	290	0.0069	-10	c.50 others(21): Show c.5040_*5049delTTTTGTTTTG	PAGE4	ENSG00000101951.17	transcript	ENST00000218068.7	protein_coding		4638		chrX	TogoVar
PAGR1_chr16_29811152_29827489	29817370	TTTGCTTG others(3): Show TTTGCTTGCTG	T T	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0021 a0001c0001t0011g0021	1	328	0.0031	-10	c.565 others(23): Show c.565+79_565+88delTTGCTTGCTG	PAGR1	ENSG00000280789.2	transcript	ENST00000320330.8	protein_coding	2/2			chr16	TogoVar
PAH_chr12_102831889_102922244	102868078	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0133 a0001c0008t0001g0133	1	312	0.0032	-10	c.442 others(27): Show c.442-1425_442-1416delCACACACACA	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102868176	GTATATAT others(3): Show GTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01243.hp2 HG03831.hp1 others(2): Show HG01069.hp1 HG01243.hp2 HG03831.hp1 NA18948.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0041 a0001c0001t0001g0042 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0086	5	312	0.0160	-10	c.442 others(27): Show c.442-1523_442-1514delTATATATATA	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102882667	TATATATA others(3): Show TATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02572.hp1 HG02622.hp1 others(9): Show HG01884.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02818.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0008t0001	a0001c0001t0001g0156 a0001c0001t0001g0221 a0001c0001t0001g0222 others(9): Show a0001c0001t0001g0156 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0002g0008 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0006g0229 a0001c0001t0006g0230 a0001c0008t0001g0228	12	312	0.0385	-10	c.353 others(27): Show c.353-5127_353-5118delTTATATATAT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	3/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102897461	GTGTGTAT others(3): Show GTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00597.hp2 others(45): Show HG00099.hp1 HG00408.hp2 HG00597.hp2 HG00609.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG01081.hp2 HG01168.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01516.hp2 HG01517.hp2 HG01943.hp2 HG02040.hp1 HG02129.hp1 HG02155.hp2 HG02165.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG03491.hp1 HG03492.hp2 HG03834.hp2 HG04199.hp2 HG04204.hp2 NA18747.hp1 NA18939.hp2 NA18954.hp1 NA18960.hp2 NA18968.hp1 NA18970.hp1 NA18982.hp1 NA18983.hp2 NA18985.hp1 NA19043.hp1 NA19054.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19076.hp1 NA19077.hp2 NA19086.hp1 NA19089.hp2 NA19090.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0014 others(2): Show a0001c0001 a0001c0003 a0001c0014 a0002c0005 a0004c0016	a0001c0001t0003 a0001c0003t0001 a0001c0003t0003 others(5): Show a0001c0001t0003 a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0003t0014 a0001c0014t0003 a0002c0005t0003 a0004c0016t0003	a0001c0001t0003g0271 a0001c0003t0001g0121 a0001c0003t0003g0006 others(44): Show a0001c0001t0003g0271 a0001c0003t0001g0121 a0001c0003t0003g0006 a0001c0003t0003g0243 a0001c0003t0003g0244 a0001c0003t0003g0245 a0001c0003t0003g0256 a0001c0003t0003g0257 a0001c0003t0003g0258 a0001c0003t0003g0259 a0001c0003t0003g0263 a0001c0003t0003g0264 a0001c0003t0003g0265 a0001c0003t0003g0266 a0001c0003t0003g0267 a0001c0003t0003g0268 a0001c0003t0003g0269 a0001c0003t0003g0270 a0001c0003t0003g0272 a0001c0003t0003g0273 a0001c0003t0003g0274 a0001c0003t0003g0275 a0001c0003t0003g0276 a0001c0003t0003g0277 a0001c0003t0003g0280 a0001c0003t0003g0282 a0001c0003t0003g0283 a0001c0003t0003g0284 a0001c0003t0003g0287 a0001c0003t0003g0288 a0001c0003t0003g0289 a0001c0003t0003g0290 a0001c0003t0003g0291 a0001c0003t0005g0260 a0001c0003t0014g0278 a0001c0003t0014g0279 a0001c0014t0003g0261 a0002c0005t0003g0246 a0002c0005t0003g0247 a0002c0005t0003g0248 a0002c0005t0003g0249 a0002c0005t0003g0250 a0002c0005t0003g0251 a0002c0005t0003g0252 a0002c0005t0003g0253 a0002c0005t0003g0254 a0004c0016t0003g0281	48	312	0.1539	-10	c.169 others(27): Show c.169-2553_169-2544delTATATACACA	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	2/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102897465	GTATATAT others(3): Show GTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02622.hp1 others(4): Show HG01891.hp2 HG02145.hp2 HG02622.hp1 HG02723.hp2 HG02818.hp1 HG02965.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0218 a0001c0001t0001g0219 others(4): Show a0001c0001t0001g0156 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223	7	312	0.0224	-10	c.169 others(27): Show c.169-2557_169-2548delTATATATATA	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	2/12			chr12	TogoVar
PAICS_chr4_56431260_56469578	56438371	TTATATAT others(3): Show TTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01257.hp1 HG01258.hp2 others(10): Show HG00438.hp2 HG01257.hp1 HG01258.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02922.hp1 NA18906.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 a0001c0001t0034 a0001c0001t0035	a0001c0001t0001g0039 a0001c0001t0004g0052 a0001c0001t0004g0058 others(10): Show a0001c0001t0001g0039 a0001c0001t0004g0052 a0001c0001t0004g0058 a0001c0001t0004g0074 a0001c0001t0004g0096 a0001c0001t0007g0139 a0001c0001t0007g0146 a0001c0001t0013g0039 a0001c0001t0014g0042 a0001c0001t0014g0043 a0001c0001t0014g0044 a0001c0001t0034g0095 a0001c0001t0035g0177	13	380	0.0342	-10	c.16+ others(25): Show c.16+2066_16+2075delTATATATATA	PAICS	ENSG00000128050.9	transcript	ENST00000512576.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
PAICS_chr4_56431260_56469578	56466480	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0163 a0001c0001t0048g0163	1	380	0.0026	-10	c.69 others(21): Show c.6943_*6952delAAAAAAAAAA	PAICS	ENSG00000128050.9	transcript	ENST00000512576.3	protein_coding		1903		chr4	TogoVar
PAIP1_chr5_43521267_43562077	43541753	AAGAAAAC others(3): Show AAGAAAACTAG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0326 a0001c0003t0004g0326	1	350	0.0029	-10	c.734 others(27): Show c.734+1241_734+1250delCTAGTTTTCT	PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding	4/10			chr5	TogoVar
PAIP2B_chr2_71177738_71232103	71194459	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0237 a0001c0002t0039g0237	1	378	0.0027	-10	c.139 others(27): Show c.139-4448_139-4439delCACACACACA	PAIP2B	ENSG00000124374.9	transcript	ENST00000244221.9	protein_coding	2/3			chr2	TogoVar
PAIP2B_chr2_71177738_71232103	71200998	TGTGTGTG others(3): Show TGTGTGTGTGG	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0161 a0001c0001t0005g0161	1	378	0.0027	-10	c.138 others(27): Show c.138+1444_138+1453delCCACACACAC	PAIP2B	ENSG00000124374.9	transcript	ENST00000244221.9	protein_coding	2/3			chr2	TogoVar
PAIP2B_chr2_71177738_71232103	71201008	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02055.hp1 HG02109.hp2 others(9): Show HG00423.hp1 HG02055.hp1 HG02109.hp2 HG02258.hp2 HG02818.hp2 HG02965.hp1 HG03209.hp2 HG03225.hp1 HG03516.hp1 HG03579.hp2 NA18961.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0002t0015 others(1): Show a0001c0001t0002 a0001c0002t0003 a0001c0002t0015 a0001c0002t0018	a0001c0001t0002g0138 a0001c0001t0002g0150 a0001c0002t0003g0030 others(8): Show a0001c0001t0002g0138 a0001c0001t0002g0150 a0001c0002t0003g0030 a0001c0002t0003g0113 a0001c0002t0003g0115 a0001c0002t0003g0116 a0001c0002t0015g0153 a0001c0002t0015g0158 a0001c0002t0015g0175 a0001c0002t0018g0044 a0001c0002t0018g0114	12	378	0.0318	-10	c.138 others(27): Show c.138+1434_138+1443delACACACACAC	PAIP2B	ENSG00000124374.9	transcript	ENST00000244221.9	protein_coding	2/3			chr2	TogoVar
PAIP2_chr5_139336854_139374717	139337388	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0261 a0001c0001t0008g0261	1	344	0.0029	-10	c.-46 others(21): Show c.-4618_-4609delTTTTTTTTTT	PAIP2	ENSG00000120727.13	transcript	ENST00000265192.9	protein_coding		4465		chr5	TogoVar
PAIP2_chr5_139336854_139374717	139373851	GGCGTAGG others(3): Show GGCGTAGGACT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	344	0.0029	-10	c.50 others(21): Show c.5054_*5063delGCGTAGGACT	PAIP2	ENSG00000120727.13	transcript	ENST00000265192.9	protein_coding		4135		chr5	TogoVar
PAK1_chr11_77317017_77479094	77381138	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18522.hp1 HG02145.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0301 a0001c0001t0010g0302 a0001c0001t0010g0301 a0001c0001t0010g0302	2	302	0.0066	-10	c.191 others(27): Show c.191-1154_191-1145delACACACACAC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	2/14			chr11	TogoVar
PAK1_chr11_77317017_77479094	77394844	AAAAACAA others(3): Show AAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG01070.hp1 others(37): Show HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG02040.hp1 HG02148.hp1 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03098.hp1 HG03540.hp1 HG03704.hp2 HG04115.hp1 HG04184.hp2 HG06807.hp2 NA18972.hp1 NA18986.hp1 NA18988.hp1 NA19060.hp1 NA19240.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(37): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0009g0290 a0001c0001t0009g0291	40	302	0.1325	-10	c.-21 others(27): Show c.-21-2313_-21-2304delGTTTTGTTTT	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14			chr11	TogoVar
PAK1_chr11_77317017_77479094	77405670	GACAGACA others(3): Show GACAGACACAC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02486.hp2 HG02965.hp1 others(1): Show HG02109.hp2 HG02486.hp2 HG02965.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 others(1): Show a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228	4	302	0.0133	-10	c.-21 others(29): Show c.-21-13139_-21-13130delGTGTGTCTGT	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14			chr11	TogoVar
PAK1_chr11_77317017_77479094	77408532	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	302	0.0033	-10	c.-21 others(29): Show c.-21-16001_-21-15992delGTGTGTGTGT	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14			chr11	TogoVar
PAK1_chr11_77317017_77479094	77429056	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG01070.hp1 others(23): Show HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01109.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG02040.hp1 HG02148.hp1 HG02155.hp1 HG02257.hp1 HG02523.hp2 HG02559.hp2 HG03704.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 NA18972.hp1 NA18986.hp1 NA18988.hp1 NA19060.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(23): Show a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0174	26	302	0.0861	-10	c.-21 others(29): Show c.-21-36525_-21-36516delTTTTTTTTTT	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14			chr11	TogoVar
PAK1_chr11_77317017_77479094	77429085	AAAAAAAA others(3): Show AAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18948.hp1 HG02135.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0055 a0001c0001t0002g0060	2	302	0.0066	-10	c.-21 others(29): Show c.-21-36554_-21-36545delGTTTTTTTTT	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14			chr11	TogoVar
PAK1_chr11_77317017_77479094	77464989	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00099.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0024 a0001c0002t0008g0025 a0001c0002t0008g0024 a0001c0002t0008g0025	2	302	0.0066	-10	c.-22 others(27): Show c.-22+8553_-22+8562delACACACACAC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14			chr11	TogoVar

Search by Variant

Search

Search Results