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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PXMP4_chr20_33697758_33725310	33710766	A A	AGGTGCCC others(11): Show AGGTGCCCCTGCCATGAGT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0190 a0002c0002t0006g0190	1	388	0.0026	18	c.177 others(31): Show c.177-31_177-14dupACTCATGGCAGGGGCACC		PXMP4	ENSG00000101417.12	transcript	ENST00000409299.8	protein_coding	2/3						chr20	TogoVar
PXT1_chr6_36385551_36447854	36425796	A A	AAAACAAA others(11): Show AAAACAAAAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0160 a0001c0001t0005g0160	1	390	0.0026	18	c.169 others(33): Show c.169+117_169+118insGTTTGTTTGTTTTTGTTT		PXT1	ENSG00000179165.12	transcript	ENST00000454782.3	protein_coding	3/4						chr6	TogoVar
PXT1_chr6_36385551_36447854	36425800	C C	CAAAAACA others(11): Show CAAAAACAAACAAACAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03130.hp1 HG03225.hp2 HG02615.hp1 HG03130.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	3	390	0.0077	18	c.169 others(33): Show c.169+113_169+114insTTTTGTTTGTTTGTTTTT		PXT1	ENSG00000179165.12	transcript	ENST00000454782.3	protein_coding	3/4						chr6	TogoVar
PXT1_chr6_36385551_36447854	36425805	A A	ACAAACAA others(11): Show ACAAACAAACAAACAAAAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA18942.hp1 NA18957.hp1 others(2): Show HG00738.hp2 NA18942.hp1 NA18957.hp1 NA18977.hp2 NA18978.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0303 a0001c0003t0001g0304 a0001c0003t0001g0305 others(2): Show a0001c0003t0001g0303 a0001c0003t0001g0304 a0001c0003t0001g0305 a0001c0003t0001g0308 a0001c0003t0001g0309	5	390	0.0128	18	c.169 others(33): Show c.169+108_169+109insATTTTGTTTGTTTGTTTG		PXT1	ENSG00000179165.12	transcript	ENST00000454782.3	protein_coding	3/4						chr6	TogoVar
PXYLP1_chr3_141226825_141299924	141233041	G G	GGTGTGAA others(11): Show GGTGTGAAGCTGGCAGTGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(191): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02273.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18943.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0014 a0002c0006 a0004c0005 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0002t0002 a0001c0002t0015 a0001c0003t0003 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0007t0002 a0001c0014t0002 a0002c0006t0002 a0004c0005t0001 a0005c0010t0002	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0013 others(184): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0228 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0096 a0001c0001t0002g0114 a0001c0001t0002g0120 a0001c0001t0002g0130 a0001c0001t0002g0135 a0001c0001t0002g0147 a0001c0001t0002g0153 a0001c0001t0002g0157 a0001c0001t0002g0160 a0001c0001t0002g0174 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0003g0001 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0076 a0001c0001t0003g0097 a0001c0001t0003g0101 a0001c0001t0003g0142 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0197 a0001c0001t0003g0200 a0001c0001t0003g0203 a0001c0001t0004g0010 a0001c0001t0004g0093 a0001c0001t0004g0104 a0001c0001t0004g0109 a0001c0001t0004g0137 a0001c0001t0004g0143 a0001c0001t0004g0148 a0001c0001t0004g0162 a0001c0001t0004g0169 a0001c0001t0004g0171 a0001c0001t0004g0186 a0001c0001t0004g0231 a0001c0001t0005g0009 a0001c0001t0005g0218 a0001c0001t0006g0070 a0001c0001t0007g0069 a0001c0001t0007g0084 a0001c0001t0007g0086 a0001c0001t0007g0089 a0001c0001t0009g0219 a0001c0001t0009g0220 a0001c0001t0011g0028 a0001c0001t0011g0030 a0001c0001t0012g0106 a0001c0001t0014g0006 a0001c0001t0016g0131 a0001c0002t0002g0007 a0001c0002t0002g0027 a0001c0002t0002g0077 a0001c0002t0002g0079 a0001c0002t0002g0092 a0001c0002t0002g0094 a0001c0002t0002g0107 a0001c0002t0002g0119 a0001c0002t0002g0121 a0001c0002t0002g0128 a0001c0002t0002g0151 a0001c0002t0002g0170 a0001c0002t0002g0198 a0001c0002t0002g0202 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0207 a0001c0002t0002g0227 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0015g0103 a0001c0003t0003g0212 a0001c0004t0001g0224 a0001c0004t0002g0193 a0001c0004t0002g0223 a0001c0004t0003g0117 a0001c0004t0003g0192 a0001c0004t0003g0194 a0001c0004t0003g0221 a0001c0004t0003g0222 a0001c0004t0003g0225 a0001c0007t0002g0206 a0001c0014t0002g0226 a0002c0006t0002g0133 a0002c0006t0002g0134 a0004c0005t0001g0008 a0005c0010t0002g0007	194	384	0.5052	18	c.-54 others(35): Show c.-54+1132_-54+1149dupTGTGAAGCTGGCAGTGCG		PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
PXYLP1_chr3_141226825_141299924	141248853	A A	ATATATAT others(11): Show ATATATATACACACACGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0243 a0001c0002t0002g0243	1	384	0.0026	18	c.-53 others(37): Show c.-53-11257_-53-11256insACGTGTATATATACACAC		PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
PYCARD_chr16_31196486_31207760	31206000	T T	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	354	0.0028	18	c.-33 others(29): Show c.-3311_-3310insGAAAGAAAGAAAGAAAGA		PYCARD	ENSG00000103490.14	transcript	ENST00000247470.10	protein_coding					3241		chr16	TogoVar
PYCR2_chr1_225914878_225929250	225927911	C C	CCAAATAT others(11): Show CCAAATATATGTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03486.hp1 HG03195.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	448	0.0045	18	c.-38 others(29): Show c.-3802_-3801insTATATATACATATATTTG		PYCR2	ENSG00000143811.20	transcript	ENST00000343818.11	protein_coding					3662		chr1	TogoVar
PYDC2_chr3_191456163_191466456	191463020	C C	CTCTCTTT others(11): Show CTCTCTTTCTCTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01981.hp2 NA18944.hp2 others(6): Show HG01975.hp1 HG01981.hp2 NA18944.hp2 NA18954.hp2 NA18982.hp2 NA19011.hp1 NA19076.hp2 NA19078.hp1 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0000 a0002c0002t0000g0000	9	434	0.0207	18	c.15 others(29): Show c.1564_*1565insTCTCTTTCTCTCTTTCTT		PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding					1565		chr3	TogoVar
PYDC2_chr3_191456163_191466456	191463020	C C	CTCTCTTT others(11): Show CTCTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 NA19006.hp1 HG02148.hp1 NA19006.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0000 a0002c0002t0000g0000	2	434	0.0046	18	c.15 others(29): Show c.1564_*1565insTCTCTTTCTTTCTTTCTT		PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding					1565		chr3	TogoVar
PYDC2_chr3_191456163_191466456	191463020	C C	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG01070.hp2 others(25): Show HG00280.hp1 HG00438.hp2 HG01070.hp2 HG01346.hp2 HG01943.hp2 HG02083.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02572.hp1 HG02698.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG03710.hp1 HG03942.hp1 HG04184.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18953.hp2 NA18994.hp1 NA19002.hp2 NA19005.hp1 NA19012.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	28	434	0.0645	18	c.15 others(29): Show c.1564_*1565insTTTCTTTCTTTCTTTCTT		PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding					1565		chr3	TogoVar
PYGO1_chr15_55533884_55593345	55568320	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03130.hp1 HG02895.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0165 a0001c0001t0011g0166 a0001c0001t0011g0165 a0001c0001t0011g0166	2	412	0.0049	18	c.50- others(35): Show c.50-19343_50-19326dupCACACACACACACACACA		PYGO1	ENSG00000171016.13	transcript	ENST00000563719.4	protein_coding	1/2						chr15	TogoVar
PYGO1_chr15_55533884_55593345	55576760	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG00735.hp2 others(35): Show HG00140.hp1 HG00642.hp1 HG00735.hp2 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01928.hp2 HG01943.hp2 HG01978.hp1 HG02148.hp1 HG02148.hp2 HG02293.hp1 HG02300.hp2 HG02735.hp2 HG02738.hp1 HG03017.hp2 HG03239.hp2 HG03654.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18982.hp1 NA19085.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 a0001c0001t0039 a0001c0001t0043 a0001c0001t0045 a0001c0001t0064 a0001c0001t0083	a0001c0001t0002g0201 a0001c0001t0004g0003 a0001c0001t0004g0009 others(32): Show a0001c0001t0002g0201 a0001c0001t0004g0003 a0001c0001t0004g0009 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0004g0140 a0001c0001t0004g0193 a0001c0001t0004g0219 a0001c0001t0004g0313 a0001c0001t0004g0315 a0001c0001t0004g0317 a0001c0001t0004g0319 a0001c0001t0004g0320 a0001c0001t0004g0322 a0001c0001t0004g0329 a0001c0001t0004g0330 a0001c0001t0004g0331 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0004g0336 a0001c0001t0004g0340 a0001c0001t0004g0343 a0001c0001t0004g0355 a0001c0001t0004g0371 a0001c0001t0019g0316 a0001c0001t0019g0358 a0001c0001t0019g0359 a0001c0001t0019g0369 a0001c0001t0039g0011 a0001c0001t0043g0312 a0001c0001t0045g0318 a0001c0001t0064g0180 a0001c0001t0083g0399	38	412	0.0922	18	c.49+ others(35): Show c.49+11074_49+11075insTTTTTTTTTTTTTTTTTT		PYGO1	ENSG00000171016.13	transcript	ENST00000563719.4	protein_coding	1/2						chr15	TogoVar
PYM1_chr12_55896413_55932894	55910252	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	344	0.0029	18	c.38- others(33): Show c.38-6790_38-6773dupATATATATATATATATAT		PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2						chr12	TogoVar
PYURF_chr4_88515998_88528776	88516483	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0005	1	446	0.0022	18	c.54 others(29): Show c.5404_*5405insTTTTTTTTTTTTTTTTTT		PYURF	ENSG00000145337.5	transcript	ENST00000273968.5	protein_coding					4514		chr4	TogoVar
PYY_chr17_43947733_43958940	43947898	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	364	0.0028	18	c.50 others(29): Show c.5057_*5058insTTTTTTTTTTTTTTTTTT		PYY	ENSG00000131096.11	transcript	ENST00000692052.1	protein_coding					4834		chr17	TogoVar
PYY_chr17_43947733_43958940	43958135	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01261.hp1 HG02074.hp2 others(5): Show HG01167.hp1 HG01261.hp1 HG02074.hp2 HG02738.hp2 HG02895.hp2 HG03098.hp2 HG03209.hp1 NA19067.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0003 a0002c0002t0001g0001 a0001c0001t0001g0003 a0002c0002t0001g0001	8	364	0.0220	18	c.-43 others(29): Show c.-4304_-4287dupTTTTTTTTTTTTTTTTTT		PYY	ENSG00000131096.11	transcript	ENST00000692052.1	protein_coding					4196		chr17	TogoVar
QARS1_chr3_49090932_49109757	49096798	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02148.hp1 HG02148.hp2 others(4): Show HG01981.hp1 HG02148.hp1 HG02148.hp2 HG02717.hp2 HG03041.hp1 NA19060.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0043 a0001c0001t0001g0068 others(1): Show a0001c0001t0001g0020 a0001c0001t0001g0043 a0001c0001t0001g0068 a0001c0001t0001g0082	7	284	0.0247	18	c.227 others(35): Show c.2278-737_2278-720dupTTTTTTTTTTTTTTTTTT		QARS1	ENSG00000172053.18	transcript	ENST00000306125.12	protein_coding	23/23						chr3	TogoVar
QKI_chr6_163409718_163583592	163414591	T T	TGCCCCTC others(11): Show TGCCCCTCCCCCCGCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	302	0.0033	18	c.-60 others(27): Show c.-603_-602insGCCCCTCCCCCCGCCGCC		QKI	ENSG00000112531.17	transcript	ENST00000361752.8	protein_coding					126		chr6	TogoVar
QKI_chr6_163409718_163583592	163426545	G G	GAAGGTGC others(11): Show GAAGGTGCCCCATCGACCA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0032 a0001c0001t0059g0032	1	302	0.0033	18	c.142 others(37): Show c.142+11221_142+11238dupATCGACCAAAGGTGCCCC		QKI	ENSG00000112531.17	transcript	ENST00000361752.8	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
QKI_chr6_163409718_163583592	163517094	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCTCTCTAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0064 a0001c0001t0069g0064	1	302	0.0033	18	c.403 others(37): Show c.403-17880_403-17879insCTCTCTCTAGCTCTCTCT		QKI	ENSG00000112531.17	transcript	ENST00000361752.8	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
QRFPR_chr4_121323642_121386018	121380186	G G	GGAGAGAG others(11): Show GGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG03927.hp2 NA18987.hp2 others(1): Show HG01981.hp1 HG03927.hp2 NA18987.hp2 NA19064.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0002c0002t0020 a0003c0004t0006 a0002c0002t0001 a0002c0002t0020 a0003c0004t0006	a0002c0002t0001g0144 a0002c0002t0001g0146 a0002c0002t0020g0145 others(1): Show a0002c0002t0001g0144 a0002c0002t0001g0146 a0002c0002t0020g0145 a0003c0004t0006g0356	4	384	0.0104	18	c.340 others(33): Show c.340+104_340+121dupTCTCTCTCTCTCTCTCTC		QRFPR	ENSG00000186867.11	transcript	ENST00000394427.3	protein_coding	1/5						chr4	TogoVar
QRFPR_chr4_121323642_121386018	121380186	G G	GGAGAGAG others(11): Show GGAGAGAGAGGGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA19060.hp1 NA19060.hp2 NA18969.hp1 NA19060.hp1 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0004 a0001c0001t0002 a0002c0002t0004	a0001c0001t0002g0022 a0002c0002t0004g0306 a0001c0001t0002g0022 a0002c0002t0004g0306	3	384	0.0078	18	c.340 others(33): Show c.340+121_340+122insTCTCTCTCCCTCTCTCTC		QRFPR	ENSG00000186867.11	transcript	ENST00000394427.3	protein_coding	1/5						chr4	TogoVar
QRICH1_chr3_49024707_49099071	49034079	T T	TTTATTAT others(11): Show TTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	226	0.0044	18	c.178 others(35): Show c.1787-869_1787-852dupTAATAATAATAATAATAA		QRICH1	ENSG00000198218.12	transcript	ENST00000395443.7	protein_coding	6/9						chr3	TogoVar
QRICH1_chr3_49024707_49099071	49050248	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	226	0.0044	18	c.133 others(37): Show c.1339-3020_1339-3003dupTTTTTTTTTTTTTTTTTT		QRICH1	ENSG00000198218.12	transcript	ENST00000395443.7	protein_coding	3/9						chr3	TogoVar
QRICH1_chr3_49024707_49099071	49087818	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02486.hp1 NA19043.hp2 HG00544.hp1 HG02486.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0149 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0149	3	226	0.0133	18	c.-22 others(35): Show c.-22+6076_-22+6093dupTTTTTTTTTTTTTTTTTT		QRICH1	ENSG00000198218.12	transcript	ENST00000395443.7	protein_coding	1/9						chr3	TogoVar
QRICH1_chr3_49024707_49099071	49096798	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG03041.hp2 HG01981.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0079 a0001c0001t0002g0164 a0001c0001t0001g0079 a0001c0001t0002g0164	2	226	0.0089	18	c.-29 others(29): Show c.-2926_-2909dupTTTTTTTTTTTTTTTTTT		QRICH1	ENSG00000198218.12	transcript	ENST00000395443.7	protein_coding					2728		chr3	TogoVar
QRICH2_chr17_76269049_76313276	76284168	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG01981.hp1 others(2): Show HG01109.hp1 HG01891.hp2 HG01981.hp1 HG01993.hp2 HG03669.hp1	a0003 a0007 a0045 a0003 a0007 a0045	a0003c0003 a0007c0008 a0045c0058 a0003c0003 a0007c0008 a0045c0058	a0003c0003t0001 a0007c0008t0005 a0045c0058t0001 a0003c0003t0001 a0007c0008t0005 a0045c0058t0001	a0003c0003t0001g0182 a0003c0003t0001g0191 a0003c0003t0001g0200 others(2): Show a0003c0003t0001g0182 a0003c0003t0001g0191 a0003c0003t0001g0200 a0007c0008t0005g0350 a0045c0058t0001g0255	5	364	0.0137	18	c.401 others(37): Show c.4012-2071_4012-2054dupTTTTTTTTTTTTTTTTTT		QRICH2	ENSG00000129646.16	transcript	ENST00000680821.2	protein_coding	7/18						chr17	TogoVar
QRICH2_chr17_76269049_76313276	76285125	C C	CTGTTGTT others(11): Show CTGTTGTTGTTGTTGTTGT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG01071.hp1 others(17): Show HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01891.hp1 HG02055.hp1 HG02257.hp1 HG02258.hp1 HG02559.hp2 HG02630.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03486.hp2 HG03516.hp2 HG06807.hp2 NA18522.hp2 NA21309.hp2	a0004 a0005 a0008 others(5): Show a0004 a0005 a0008 a0014 a0017 a0018 a0020 a0036	a0004c0006 a0004c0013 a0005c0007 others(7): Show a0004c0006 a0004c0013 a0005c0007 a0008c0010 a0014c0019 a0017c0021 a0018c0047 a0018c0048 a0020c0023 a0036c0042	a0004c0006t0002 a0004c0013t0002 a0005c0007t0003 others(7): Show a0004c0006t0002 a0004c0013t0002 a0005c0007t0003 a0008c0010t0001 a0014c0019t0005 a0017c0021t0002 a0018c0047t0002 a0018c0048t0001 a0020c0023t0001 a0036c0042t0002	a0004c0006t0002g0030 a0004c0006t0002g0032 a0004c0006t0002g0037 others(16): Show a0004c0006t0002g0030 a0004c0006t0002g0032 a0004c0006t0002g0037 a0004c0006t0002g0046 a0004c0006t0002g0051 a0004c0013t0002g0003 a0004c0013t0002g0045 a0005c0007t0003g0011 a0005c0007t0003g0012 a0008c0010t0001g0229 a0008c0010t0001g0231 a0014c0019t0005g0347 a0014c0019t0005g0348 a0017c0021t0002g0031 a0017c0021t0002g0044 a0018c0047t0002g0056 a0018c0048t0001g0234 a0020c0023t0001g0238 a0036c0042t0002g0048	20	364	0.0550	18	c.401 others(37): Show c.4011+2049_4011+2066dupACAACAACAACAACAACA		QRICH2	ENSG00000129646.16	transcript	ENST00000680821.2	protein_coding	7/18						chr17	TogoVar
QRICH2_chr17_76269049_76313276	76287043	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02280.hp2 NA18992.hp1 HG01167.hp1 HG02280.hp2 NA18992.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0003 a0001c0001 a0001c0005 a0003c0003	a0001c0001t0001 a0001c0005t0001 a0003c0003t0001 a0001c0001t0001 a0001c0005t0001 a0003c0003t0001	a0001c0001t0001g0189 a0001c0005t0001g0173 a0003c0003t0001g0192 a0001c0001t0001g0189 a0001c0005t0001g0173 a0003c0003t0001g0192	3	364	0.0082	18	c.401 others(35): Show c.4011+131_4011+148dupGTGTGTGTGTGTGTGTGT		QRICH2	ENSG00000129646.16	transcript	ENST00000680821.2	protein_coding	7/18						chr17	TogoVar
QSER1_chr11_32887811_32985270	32893276	A A	AGCAGCAG others(11): Show AGCAGCAGCTGCAGCAGTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02818.hp2 HG02895.hp1 HG02895.hp2 others(1): Show HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0089 a0005c0009t0001g0090 a0005c0009t0001g0091 others(1): Show a0005c0009t0001g0089 a0005c0009t0001g0090 a0005c0009t0001g0091 a0005c0009t0001g0092	4	236	0.0170	18	c.157 others(25): Show c.157_174dupAGCTGCAGCAGTGGCAGC	p.Ser others(11): Show p.Ser53_Ser58dup	QSER1	ENSG00000060749.17	transcript	ENST00000650167.2	protein_coding	1/13	490/9706	175/5595	59/1864		INFO_REALIGN_3_PRIME	chr11	TogoVar
QSER1_chr11_32887811_32985270	32964717	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02896.hp1 NA18968.hp1 others(1): Show HG02572.hp1 HG02896.hp1 NA18968.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0002t0004g0012 others(1): Show a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0002t0004g0012 a0001c0002t0004g0232	4	236	0.0170	18	c.497 others(37): Show c.4970-1577_4970-1560dupTATATATATATATATATA		QSER1	ENSG00000060749.17	transcript	ENST00000650167.2	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
QSER1_chr11_32887811_32985270	32965944	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01256.hp1 HG01433.hp2 others(1): Show HG00621.hp2 HG01256.hp1 HG01433.hp2 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0070 a0001c0001t0001g0151 a0001c0001t0012g0003 others(1): Show a0001c0001t0001g0070 a0001c0001t0001g0151 a0001c0001t0012g0003 a0001c0001t0012g0114	4	236	0.0170	18	c.497 others(35): Show c.4970-331_4970-314dupACACACACACACACACAC		QSER1	ENSG00000060749.17	transcript	ENST00000650167.2	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
QSOX1_chr1_180149869_180209030	180168351	G G	GTCATCTG others(11): Show GTCATCTGTCCACAGACCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG01496.hp1 others(45): Show HG00280.hp2 HG00544.hp1 HG01496.hp1 HG02015.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp2 HG04228.hp1 NA18612.hp1 NA18942.hp1 NA18945.hp2 NA18950.hp2 NA18952.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18965.hp1 NA18967.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp2 NA18974.hp2 NA18975.hp2 NA18980.hp2 NA18985.hp1 NA18986.hp2 NA18988.hp1 NA18991.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp2 NA19006.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19077.hp1 NA19081.hp1 NA19086.hp2 NA19088.hp1 NA19089.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0003 a0010c0022 a0001c0001 a0002c0003 a0010c0022	a0001c0001t0002 a0001c0001t0059 a0002c0003t0003 others(5): Show a0001c0001t0002 a0001c0001t0059 a0002c0003t0003 a0002c0003t0010 a0002c0003t0011 a0002c0003t0038 a0002c0003t0041 a0010c0022t0010	a0001c0001t0002g0139 a0001c0001t0059g0060 a0002c0003t0003g0005 others(31): Show a0001c0001t0002g0139 a0001c0001t0059g0060 a0002c0003t0003g0005 a0002c0003t0003g0009 a0002c0003t0003g0012 a0002c0003t0003g0015 a0002c0003t0003g0031 a0002c0003t0003g0032 a0002c0003t0003g0059 a0002c0003t0003g0061 a0002c0003t0003g0064 a0002c0003t0003g0066 a0002c0003t0003g0067 a0002c0003t0003g0068 a0002c0003t0003g0069 a0002c0003t0003g0070 a0002c0003t0003g0072 a0002c0003t0003g0073 a0002c0003t0003g0074 a0002c0003t0003g0075 a0002c0003t0003g0076 a0002c0003t0003g0077 a0002c0003t0003g0078 a0002c0003t0003g0079 a0002c0003t0003g0080 a0002c0003t0003g0158 a0002c0003t0010g0005 a0002c0003t0010g0009 a0002c0003t0010g0014 a0002c0003t0010g0032 a0002c0003t0011g0063 a0002c0003t0038g0065 a0002c0003t0041g0062 a0010c0022t0010g0071	48	388	0.1237	18	c.366 others(35): Show c.366+1761_366+1778dupTCATCTGTCCACAGACCA		QSOX1	ENSG00000116260.17	transcript	ENST00000367602.8	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
QTRT2_chr3_114051737_114093422	114082204	C C	CCACACAC others(11): Show CCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	430	0.0023	18	c.899 others(33): Show c.899-441_899-424dupACACACACACACACACAC		QTRT2	ENSG00000151576.10	transcript	ENST00000281273.8	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
R3HDM1_chr2_135526484_135730269	135658111	G G	GTAAACAT others(11): Show GTAAACATAGAAAAGGTAC	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0118 a0002c0002t0001g0118	1	232	0.0043	18	c.202 others(37): Show c.2029-3158_2029-3141dupTAAACATAGAAAAGGTAC		R3HDM1	ENSG00000048991.18	transcript	ENST00000683871.1	protein_coding	18/26					INFO_REALIGN_3_PRIME	chr2	TogoVar
R3HDM1_chr2_135526484_135730269	135699523	T T	TACAGATA others(11): Show TACAGATATGGGTAGATGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show HG00408.hp1 HG00558.hp1 HG01346.hp1 NA18966.hp2 NA18968.hp1 NA18981.hp1 NA19001.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0149	8	232	0.0345	18	c.246 others(37): Show c.2460-9908_2460-9891dupCAGATATGGGTAGATGGA		R3HDM1	ENSG00000048991.18	transcript	ENST00000683871.1	protein_coding	21/26					INFO_REALIGN_3_PRIME	chr2	TogoVar
R3HDM2_chr12_57248764_57436043	57260263	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG00609.hp2 others(50): Show HG00423.hp2 HG00558.hp2 HG00609.hp2 HG01106.hp2 HG01256.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01978.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02071.hp2 HG02080.hp1 HG02148.hp2 HG02165.hp1 HG02293.hp2 HG02523.hp1 HG02559.hp1 HG02717.hp2 HG02735.hp2 HG02922.hp1 HG02970.hp2 HG03017.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03942.hp2 HG04199.hp2 NA18941.hp2 NA18944.hp2 NA18960.hp1 NA18964.hp1 NA18967.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18981.hp2 NA18991.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA19009.hp2 NA19011.hp2 NA19086.hp2 NA19091.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0004 others(1): Show a0001c0001 a0001c0002 a0003c0004 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0003c0004t0001 a0004c0008t0002	a0001c0001t0001g0186 a0001c0001t0001g0193 a0001c0001t0001g0194 others(50): Show a0001c0001t0001g0186 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0268 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0003g0231 a0001c0001t0003g0242 a0001c0002t0001g0003 a0001c0002t0002g0084 a0001c0002t0002g0092 a0001c0002t0002g0095 a0001c0002t0002g0101 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0108 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0116 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0260 a0001c0002t0005g0332 a0003c0004t0001g0273 a0004c0008t0002g0103	53	336	0.1577	18	c.213 others(37): Show c.2132-1222_2132-1205dupTTTTTTTTTTTTTTTTTT		R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	19/23						chr12	TogoVar
R3HDM2_chr12_57248764_57436043	57320261	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA18948.hp2 NA18962.hp1 others(1): Show HG02602.hp1 NA18948.hp2 NA18962.hp1 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0061 a0001c0002t0002g0107 a0001c0002t0002g0158 others(1): Show a0001c0002t0002g0061 a0001c0002t0002g0107 a0001c0002t0002g0158 a0001c0002t0005g0334	4	336	0.0119	18	c.-35 others(35): Show c.-35-9816_-35-9799dupTTTTTTTTTTTTTTTTTT		R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	2/23						chr12	TogoVar
R3HDML_chr20_44332043_44356238	44339577	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18906.hp2 HG02451.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	2	434	0.0046	18	c.262 others(35): Show c.262-1618_262-1617insGTGTGTGTGTGTGTGTGT		R3HDML	ENSG00000101074.5	transcript	ENST00000217043.4	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr20	TogoVar
R3HDML_chr20_44332043_44356238	44345829	C C	CTTTCTTT others(11): Show CTTTCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0179 a0002c0003t0002g0180 a0002c0003t0002g0179 a0002c0003t0002g0180	2	434	0.0046	18	c.629 others(33): Show c.629+454_629+455insCTTTTTTTTTTTTTTTTT		R3HDML	ENSG00000101074.5	transcript	ENST00000217043.4	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB11B_chr19_8385360_8409434	8406893	C C	CTTTTCTT others(11): Show CTTTTCTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01070.hp1 HG01361.hp2 others(5): Show HG00099.hp1 HG01070.hp1 HG01361.hp2 HG01433.hp2 HG01978.hp2 HG02004.hp1 HG02698.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0013 a0001c0002t0001 a0001c0002t0004 a0001c0002t0013	a0001c0002t0001g0039 a0001c0002t0001g0102 a0001c0002t0001g0104 others(5): Show a0001c0002t0001g0039 a0001c0002t0001g0102 a0001c0002t0001g0104 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0174 a0001c0002t0004g0039 a0001c0002t0013g0106	8	428	0.0187	18	c.33 others(29): Show c.3335_*3336insTTTTCTTTTTTTTTTTTT		RAB11B	ENSG00000185236.12	transcript	ENST00000328024.11	protein_coding					2460		chr19	TogoVar
RAB11FIP1_chr8_37853618_37904497	37895218	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0102 a0002c0002t0001g0102	1	264	0.0038	18	c.371 others(35): Show c.371+3835_371+3852dupATATATATATATATATAT		RAB11FIP1	ENSG00000156675.16	transcript	ENST00000330843.9	protein_coding	1/5						chr8	TogoVar
RAB11FIP1_chr8_37853618_37904497	37895259	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	264	0.0038	18	c.371 others(35): Show c.371+3811_371+3812insAATATATATATATATATA		RAB11FIP1	ENSG00000156675.16	transcript	ENST00000330843.9	protein_coding	1/5						chr8	TogoVar
RAB11FIP1_chr8_37853618_37904497	37895259	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0020 a0005c0005t0002g0020	1	264	0.0038	18	c.371 others(35): Show c.371+3811_371+3812insAAAATATATATATATATA		RAB11FIP1	ENSG00000156675.16	transcript	ENST00000330843.9	protein_coding	1/5						chr8	TogoVar
RAB11FIP3_chr16_420649_528011	480286	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03098.hp1 HG02895.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0041 a0001c0001t0015 a0001c0001t0041	a0001c0001t0015g0122 a0001c0001t0041g0126 a0001c0001t0015g0122 a0001c0001t0041g0126	2	295	0.0068	18	c.904 others(35): Show c.904-2236_904-2219dupAAAAAAAAAAAAAAAAAA		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP4_chr17_31386675_31543211	31448392	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01192.hp2 HG02818.hp1 HG00438.hp2 HG01192.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0004 a0001c0001t0001 a0001c0001t0005 a0001c0002t0004	a0001c0001t0001g0166 a0001c0001t0005g0284 a0001c0002t0004g0191 a0001c0001t0001g0166 a0001c0001t0005g0284 a0001c0002t0004g0191	3	310	0.0097	18	c.336 others(37): Show c.336+14272_336+14289dupTTTTTTTTTTTTTTTTTT		RAB11FIP4	ENSG00000131242.18	transcript	ENST00000621161.5	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAB11FIP5_chr2_73068382_73117948	73116096	T T	TACACACA others(11): Show TACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03540.hp2 HG03209.hp2 HG03540.hp2	a0008 a0020 a0008 a0020	a0008c0017 a0020c0013 a0008c0017 a0020c0013	a0008c0017t0021 a0020c0013t0017 a0008c0017t0021 a0020c0013t0017	a0008c0017t0021g0091 a0020c0013t0017g0092 a0008c0017t0021g0091 a0020c0013t0017g0092	2	378	0.0053	18	c.-33 others(29): Show c.-3337_-3320dupGTGTGTGTGTGTGTGTGT		RAB11FIP5	ENSG00000135631.17	transcript	ENST00000486777.7	protein_coding					3149		chr2	TogoVar
RAB12_chr18_8604437_8644383	8639147	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02155.hp2 NA19067.hp1 HG02155.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0005 a0001c0001t0038g0083 a0001c0001t0038g0005 a0001c0001t0038g0083	2	404	0.0050	18	c.91 others(27): Show c.913_*930dupTTTTTTTTTTTTTTTTTT		RAB12	ENSG00000206418.5	transcript	ENST00000649141.2	protein_coding	6/6				931	INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB15_chr14_64940816_64977336	64967869	G G	GGGGGTGA others(11): Show GGGGGTGAGGGGCCATTCA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0171 a0001c0001t0009g0171	1	382	0.0026	18	c.124 others(35): Show c.124+4066_124+4083dupTGAATGGCCCCTCACCCC		RAB15	ENSG00000139998.16	transcript	ENST00000533601.7	protein_coding	1/6						chr14	TogoVar

Search by Variant

Search

Search Results