Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
AIF1L_chr9_131091531_131128144	131096449	A A	ACGGGAGG others(32): Show ACGGGAGGGGCGAGGCGGGAGGGGAGGGGCGAGGCGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	253	0.0040	39	c.-18 others(48): Show c.-181_-180insCGGGAGGGGCGAGGCGGGAGGGGAGGGGCGAGGCGG GAG	AIF1L	ENSG00000126878.13	transcript	ENST00000247291.8	protein_coding		81		chr9	TogoVar
AIF1L_chr9_131091531_131128144	131096449	A A	AGGGGAGG others(32): Show AGGGGAGGGGAGAGGCGGGAGGGGAGGGGCGAGGCGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18964.hp2 NA18971.hp2 others(1): Show NA18953.hp1 NA18964.hp2 NA18971.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0142 a0001c0001t0002g0020 a0001c0001t0001g0142 a0001c0001t0002g0020	4	256	0.0156	39	c.-18 others(48): Show c.-181_-180insGGGGAGGGGAGAGGCGGGAGGGGAGGGGCGAGGCGG GAG	AIF1L	ENSG00000126878.13	transcript	ENST00000247291.8	protein_coding		81		chr9	TogoVar
AIF1L_chr9_131091531_131128144	131096449	A A	AGGGGAGG others(32): Show AGGGGAGGGGCGAGGCGGGAGGGGAGGGGCGAGGCGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(138): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp2 HG03017.hp1 HG03041.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18940.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18959.hp1 NA18962.hp2 NA18969.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18983.hp1 NA18984.hp2 NA18987.hp2 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19057.hp2 NA19059.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19074.hp2 NA19076.hp1 NA19079.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0021 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(99): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0191 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0231 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0302 a0001c0001t0002g0005 a0001c0001t0002g0028 a0001c0001t0002g0037 a0001c0001t0002g0126 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0150 a0001c0001t0002g0154 a0001c0001t0002g0157 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0193 a0001c0001t0002g0212 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0273 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0291 a0001c0001t0002g0294 a0001c0001t0002g0301 a0001c0001t0003g0204 a0001c0001t0004g0005 a0001c0001t0004g0019 a0001c0001t0004g0156 a0001c0001t0004g0270 a0001c0001t0004g0289 a0001c0001t0005g0001 a0001c0001t0005g0271 a0001c0001t0005g0281 a0001c0001t0006g0130 a0001c0001t0006g0131 a0001c0001t0009g0151 a0001c0001t0009g0152 a0001c0001t0009g0192 a0001c0001t0021g0043 a0001c0001t0031g0274 a0001c0001t0032g0015 a0001c0001t0033g0268	141	393	0.3588	39	c.-18 others(48): Show c.-181_-180insGGGGAGGGGCGAGGCGGGAGGGGAGGGGCGAGGCGG GAG	AIF1L	ENSG00000126878.13	transcript	ENST00000247291.8	protein_coding		81		chr9	TogoVar
AIF1L_chr9_131091531_131128144	131096449	A A	AGGGGAGG others(32): Show AGGGGAGGGGCGAGGCGGGAGGGGAGGGGCGAGGCGGTAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 NA19090.hp2 HG03669.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0280 a0001c0001t0001g0007 a0001c0001t0001g0280	2	254	0.0079	39	c.-18 others(48): Show c.-181_-180insGGGGAGGGGCGAGGCGGGAGGGGAGGGGCGAGGCGG TAG	AIF1L	ENSG00000126878.13	transcript	ENST00000247291.8	protein_coding		81		chr9	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAATATAC others(32): Show AAATATACATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0321 a0001c0001t0002g0321	1	47	0.0213	39	c.135 others(54): Show c.135+477_135+478insATATACATATATATATATATATATATATAT ATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AK2_chr1_33002986_33041883	33037758	A A	ACCACCCC others(32): Show ACCACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0179 a0001c0001t0003g0179	1	348	0.0029	39	c.-93 others(48): Show c.-931_-930insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG TGG	AK2	ENSG00000004455.18	transcript	ENST00000672715.1	protein_coding		876		chr1	TogoVar
AK5_chr1_77277019_77564966	77367673	A A	ACGTTATA others(32): Show ACGTTATATGTTATATATATATGTTATATATATGTTATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0231 a0001c0001t0005g0231	1	274	0.0036	39	c.891 others(58): Show c.891+27105_891+27106insCGTTATATGTTATATATATATGTTAT ATATATGTTATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13			chr1	TogoVar
AK5_chr1_77277019_77564966	77368234	T T	TGTTATAT others(32): Show TGTTATATATATTATATATAATATATATGTTATATATATG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0143 a0002c0002t0002g0143	1	252	0.0040	39	c.891 others(58): Show c.891+27666_891+27667insGTTATATATATTATATATAATATATA TGTTATATATATG	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13			chr1	TogoVar
AK7_chr14_96387128_96494427	96418322	T T	TAAAAAAA others(32): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18990.hp1 NA18943.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0109 a0001c0001t0001g0112	2	32	0.0625	39	c.499 others(56): Show c.499-2485_499-2484insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
AK7_chr14_96387128_96494427	96428809	T T	TGTTTGAT others(32): Show TGTTTGATTTTTTCTTGTAAATTTGTTTGAGTTCTTTGTA	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19030.hp2 HG03130.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0160 a0001c0001t0001g0069 a0001c0001t0001g0160	2	314	0.0064	39	c.609 others(56): Show c.609+7879_609+7917dupTTTGATTTTTTCTTGTAAATTTGTTTGA GTTCTTTGTAG	AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
AK9_chr6_109487855_109696202	109490664	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAAAGGAAAGGAAGTAACCGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0111 a0002c0002t0002g0111	1	376	0.0027	39	c.27 others(50): Show c.2704_*2705insAACGGTTACTTCCTTTCCTTTTTTTTTTTTTTTT TTTTT	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding		2190		chr6	TogoVar
AKAP1_chr17_57080246_57126344	57119830	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0077 a0001c0002t0005g0077	1	125	0.0080	39	c.263 others(56): Show c.2638-400_2638-399insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	AKAP1	ENSG00000121057.13	transcript	ENST00000337714.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
AKAP6_chr14_32324298_32842684	32615167	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	33	0.0303	39	c.273 others(60): Show c.2730+14394_2730+14395insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32615591	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0013 a0013	a0013c0048 a0013c0048	a0013c0048t0034 a0013c0048t0034	a0013c0048t0034g0118 a0013c0048t0034g0118	1	105	0.0095	39	c.273 others(60): Show c.2730+14821_2730+14822insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32780155	A A	AAACATAT others(32): Show AAACATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0004 a0004	a0004c0040 a0004c0040	a0004c0040t0050 a0004c0040t0050	a0004c0040t0050g0121 a0004c0040t0050g0121	1	103	0.0097	39	c.358 others(58): Show c.3588+6263_3588+6264insACATATATATATATATATATATATAT ATATATATATATA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32811255	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0040 a0010c0012t0040	a0010c0012t0040g0104 a0010c0012t0040g0104	1	67	0.0149	39	c.358 others(60): Show c.3589-10146_3589-10145insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAATA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKT2_chr19_40225317_40290345	40228679	A A	AAAAAAAT others(32): Show AAAAAAATATATATATATATATATATCTATATCTATATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	270	0.0037	39	c.51 others(50): Show c.5192_*5193insAGATATAGATATAGATATATATATATATATATAT TTTTT	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding		1637		chr19	TogoVar
AKT2_chr19_40225317_40290345	40228679	A A	AAAAATAT others(32): Show AAAAATATATATATATATATATATATATATATATCTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0287 a0001c0001t0005g0287	1	270	0.0037	39	c.51 others(50): Show c.5192_*5193insATATAGATATATATATATATATATATATATATAT ATTTT	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding		1637		chr19	TogoVar
ALAD_chr9_113381312_113406284	113395943	C C	CAGCACTT others(32): Show CAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0062 a0001c0003t0002g0062	1	444	0.0023	39	c.-75 others(56): Show c.-75-2348_-75-2310dupACCTCAAGTGATCCACCCACCTCGGCCT CCCAAAGTGCT	ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding	1/11			chr9	TogoVar
ALCAM_chr3_105361909_105581900	105368223	A A	AAGAGAGA others(32): Show AAGAGAGAGAGAGAGAGAGAGAGAAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0093 a0001c0002t0003g0093	1	41	0.0244	39	c.73+ others(52): Show c.73+765_73+766insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGA	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(32): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	183	0.0055	39	c.194 others(54): Show c.194-839_194-838insAAAAAAAAAAAAAAAAAAAAAAATATATAT ATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALK_chr2_29187774_29926586	29830960	A A	AGAAGAAG others(32): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0006 a0003c0010t0006	a0003c0010t0006g0002 a0003c0010t0006g0002	1	71	0.0141	39	c.667 others(58): Show c.667+89032_667+89033insCTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTC	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29831255	A A	AAGGAGAA others(32): Show AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03225.hp1 HG02280.hp2 HG03225.hp1	a0002 a0003 a0002 a0003	a0002c0008 a0003c0005 a0002c0008 a0003c0005	a0002c0008t0001 a0003c0005t0002 a0002c0008t0001 a0003c0005t0002	a0002c0008t0001g0045 a0003c0005t0002g0046 a0002c0008t0001g0045 a0003c0005t0002g0046	2	67	0.0299	39	c.667 others(58): Show c.667+88737_667+88738insCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCT	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29831259	G G	GGAAGAAG others(32): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0005 a0001c0037t0005	a0001c0037t0005g0028 a0001c0037t0005g0028	1	14	0.0714	39	c.667 others(58): Show c.667+88695_667+88733dupTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTC	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALLC_chr2_3653200_3707671	3690386	C C	CCCCCTCC others(32): Show CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	263	0.0038	39	c.512 others(56): Show c.512-5294_512-5293insCTCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3690426	C C	CCCCTCCC others(32): Show CCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0137 a0004c0004t0001g0137	1	272	0.0037	39	c.512 others(56): Show c.512-5283_512-5282insTCCCCTCCCCCCCTCCCCTCCCCTCCCC CCTCCCTCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALPP_chr2_232373751_232387889	232385077	G G	GGAAGAAG others(32): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02109.hp1 HG02155.hp2 others(2): Show HG01109.hp1 HG02109.hp1 HG02155.hp2 HG02886.hp1 NA18939.hp2	a0001 a0002 a0016 a0001 a0002 a0016	a0001c0001 a0002c0002 a0016c0026 a0001c0001 a0002c0002 a0016c0026	a0001c0001t0001 a0002c0002t0001 a0016c0026t0003 a0001c0001t0001 a0002c0002t0001 a0016c0026t0003	a0001c0001t0001g0001 a0001c0001t0001g0012 a0002c0002t0001g0008 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0002c0002t0001g0008 a0016c0026t0003g0002	5	264	0.0189	39	c.32 others(50): Show c.3282_*3283insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAA	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2189		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(32): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	220	0.0045	39	c.33 others(50): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(32): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG03579.hp2 NA19080.hp2 HG02451.hp1 HG03579.hp2 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0002c0002t0001g0007 a0001c0001t0001g0001 a0002c0002t0001g0007	3	222	0.0135	39	c.33 others(50): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGA GGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(32): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01981.hp1 HG02818.hp1 others(2): Show HG01884.hp2 HG01981.hp1 HG02818.hp1 HG03834.hp2 NA18942.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0002c0010 a0004c0004 a0002c0002 a0002c0010 a0004c0004	a0002c0002t0001 a0002c0010t0005 a0004c0004t0001 a0002c0002t0001 a0002c0010t0005 a0004c0004t0001	a0002c0002t0001g0002 a0002c0010t0005g0011 a0004c0004t0001g0002 a0002c0002t0001g0002 a0002c0010t0005g0011 a0004c0004t0001g0002	5	224	0.0223	39	c.33 others(50): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGA GGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(32): Show AAGAAGAAGAAGAAGAAGAAGGAGGAGGAGGAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG03486.hp1 HG01358.hp1 HG03486.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0001 a0004c0004t0001g0002 a0001c0001t0001g0001 a0004c0004t0001g0002	2	221	0.0090	39	c.33 others(50): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGGAGGAGGAGGAGGA GGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
AMBRA1_chr11_46391414_46599023	46585695	A A	AAAAATAT others(32): Show AAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0148 a0001c0002t0002g0148	1	67	0.0149	39	c.-12 others(58): Show c.-121+8132_-121+8133insATATATATATATATATATATATATAT ATATATATATTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMFR_chr16_56356452_56430545	56425436	T T	TGCCGCTG others(32): Show TGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0055 a0001c0006t0055	a0001c0006t0055g0349 a0001c0006t0055g0349	1	347	0.0029	39	c.-11 others(48): Show c.-110_-109insGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCAGC GGC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	1/14	110		chr16	TogoVar
AMPH_chr7_38378704_38636373	38610322	A A	AGAGAGAG others(32): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0030 a0001c0009t0006g0030	1	185	0.0054	39	c.69+ others(56): Show c.69+20960_69+20961insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTC	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
ANAPC1_chr2_111762640_111889193	111832937	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0258 a0001c0007t0007g0258	1	115	0.0087	39	c.247 others(56): Show c.2476+282_2476+283insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	20/47			chr2	TogoVar
ANAPC5_chr12_121303245_121357411	121352712	T T	TTGGTGGT others(32): Show TTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA20300.hp1 NA18975.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0023 a0001c0001t0003g0231 a0001c0001t0001g0023 a0001c0001t0003g0231	2	271	0.0074	39	c.-37 others(48): Show c.-373_-372insCCACCACCACCACCACCACCACCACCACCACCACCA CCA	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		302		chr12	TogoVar
ANAPC5_chr12_121303245_121357411	121352715	T T	TTGGTGGT others(32): Show TTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00735.hp1 HG01192.hp2 others(7): Show HG00140.hp1 HG00735.hp1 HG01192.hp2 HG01258.hp2 HG01934.hp1 HG02074.hp1 HG02132.hp2 HG02523.hp2 HG04204.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0157 others(5): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0185 a0001c0001t0001g0198 a0001c0001t0001g0209 a0001c0001t0001g0215	10	247	0.0405	39	c.-37 others(48): Show c.-376_-375insCCACCACCACCACCACCACCACCACCACCACCACCA CCA	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		305		chr12	TogoVar
ANAPC5_chr12_121303245_121357411	121352718	T T	TTGGTGGT others(32): Show TTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG02071.hp2 HG02165.hp1 others(4): Show HG01256.hp1 HG02071.hp2 HG02165.hp1 HG03098.hp1 NA18955.hp2 NA18971.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0174 a0001c0001t0001g0191 others(4): Show a0001c0001t0001g0007 a0001c0001t0001g0174 a0001c0001t0001g0191 a0001c0001t0001g0205 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0218	7	131	0.0534	39	c.-37 others(48): Show c.-379_-378insCCACCACCACCACCACCACCACCACCACCACCACCA CCA	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		308		chr12	TogoVar
ANAPC5_chr12_121303245_121357411	121352718	T T	TTGTTGGT others(32): Show TTGTTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA19009.hp2 NA19084.hp2 NA18906.hp2 NA19009.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0156 a0001c0001t0001g0197 a0001c0001t0001g0022 a0001c0001t0001g0156 a0001c0001t0001g0197	3	127	0.0236	39	c.-37 others(48): Show c.-379_-378insCCACCACCACCACCACCACCACCACCACCACCACCA ACA	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		308		chr12	TogoVar
ANGPT4_chr20_864900_921334	895852	A A	AAAAATGT others(32): Show AAAAATGTCAGAATCTGTGATTGCCAGGGCCTGGGTCCGG	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0349 a0001c0001t0027g0349	1	430	0.0023	39	c.310 others(56): Show c.310-5523_310-5485dupCCGGACCCAGGCCCTGGCAATCACAGAT TCTGACATTTT	ANGPT4	ENSG00000101280.8	transcript	ENST00000381922.5	protein_coding	1/8			chr20	TogoVar
ANGPT4_chr20_864900_921334	920192	G G	GAATAAAC others(32): Show GAATAAACTTATATCCACCTGGATACTTTGGCTTTTGTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	430	0.0023	39	c.-39 others(50): Show c.-3979_-3978insGAACAAAAGCCAAAGTATCCAGGTGGATATAAGT TTATT	ANGPT4	ENSG00000101280.8	transcript	ENST00000381922.5	protein_coding		3859		chr20	TogoVar
ANGPTL5_chr11_101885674_101921522	101889419	G G	GAAAGAGA others(32): Show GAAAGAGAAAGAAAGAAAAAAGAAAGAAAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02280.hp2 HG02970.hp1 HG01109.hp1 HG02280.hp2 HG02970.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0006 a0001c0001t0001 a0002c0002t0001 a0003c0003t0006	a0001c0001t0001g0298 a0002c0002t0001g0188 a0003c0003t0006g0043 a0001c0001t0001g0298 a0002c0002t0001g0188 a0003c0003t0006g0043	3	400	0.0075	39	c.18 others(50): Show c.1859_*1860insTTCTTTCTTTCTTTCTTTCTTTTTTCTTTCTTTC TCTTT	ANGPTL5	ENSG00000187151.7	transcript	ENST00000334289.7	protein_coding		1254		chr11	TogoVar
ANKDD1A_chr15_64906902_64963691	64953628	T T	TTCTTAGT others(32): Show TTCTTAGTTCTTCTTAGTTCTTCTTCTTCTTCCTTCTTTC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0211 a0002c0005t0002g0211	1	42	0.0238	39	c.148 others(58): Show c.1484-3473_1484-3472insTTAGTTCTTCTTAGTTCTTCTTCTTC TTCCTTCTTTCTC	ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
ANKDD1A_chr15_64906902_64963691	64953628	T T	TTCTTCTT others(32): Show TTCTTCTTAGTTCTTAGTTCTTCTTCTTCTTCCTTCTTTC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0295 a0002c0003t0002g0295	1	42	0.0238	39	c.148 others(58): Show c.1484-3473_1484-3472insTTCTTAGTTCTTAGTTCTTCTTCTTC TTCCTTCTTTCTC	ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
ANKDD1A_chr15_64906902_64963691	64953628	T T	TTCTTCTT others(32): Show TTCTTCTTAGTTCTTCTTAGTTCTTCTTCTTCCTTCTTTC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02071.hp2 HG01361.hp2 HG02071.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0163 a0002c0003t0002g0209 a0002c0003t0002g0163 a0002c0003t0002g0209	2	43	0.0465	39	c.148 others(58): Show c.1484-3473_1484-3472insTTCTTAGTTCTTCTTAGTTCTTCTTC TTCCTTCTTTCTC	ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
ANKIB1_chr7_92240974_92406383	92309942	A A	AAAAAAAA others(32): Show AAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18957.hp1 NA18951.hp2 NA18957.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0264 a0001c0003t0002g0267 a0001c0003t0002g0264 a0001c0003t0002g0267	2	122	0.0164	39	c.486 others(56): Show c.486+2287_486+2288insAAAAAAAAATATATATATATATATATAT ATATATATATA	ANKIB1	ENSG00000001629.10	transcript	ENST00000265742.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ANKIB1_chr7_92240974_92406383	92309942	A A	AAAAAAAA others(32): Show AAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0292 a0001c0003t0002g0292	1	121	0.0083	39	c.486 others(56): Show c.486+2287_486+2288insAAAAAAATATATATATATATATATATAT ATATATATATA	ANKIB1	ENSG00000001629.10	transcript	ENST00000265742.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ANKRD10_chr13_110873540_110920069	110892416	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	6	0.1667	39	c.691 others(54): Show c.691+611_691+612insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	ANKRD10	ENSG00000088448.14	transcript	ENST00000267339.6	protein_coding	4/5			chr13	TogoVar
ANKRD11_chr16_89262630_89495561	89381354	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0012 a0012	a0012c0037 a0012c0037	a0012c0037t0001 a0012c0037t0001	a0012c0037t0001g0139 a0012c0037t0001g0139	1	120	0.0083	39	c.-60 others(58): Show c.-60+36929_-60+36930insCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89415829	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20805.hp2 NA20752.hp2 NA20805.hp2	a0001 a0033 a0001 a0033	a0001c0001 a0033c0043 a0001c0001 a0033c0043	a0001c0001t0001 a0033c0043t0001 a0001c0001t0001 a0033c0043t0001	a0001c0001t0001g0001 a0033c0043t0001g0176 a0001c0001t0001g0001 a0033c0043t0001g0176	2	99	0.0202	39	c.-60 others(56): Show c.-60+2454_-60+2455insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar

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