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
DNAAF3_chr19_55153665_55171613	55153733	A A	AAAAAAAA others(87): Show AAAAAAAAAAAAAAGGAAATTAAAAAAAATTTTTTTTTAAACCTCAAAGA TTACAGGCATAAGCAACTGCACCTGGACAGCAGAGACTCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0022 a0003c0002t0001g0022	1	398	0.0025	94	c.53 others(105): Show c.5328_*5329insGAGATGGAGTCTCTGCTGTCCAGGTGCAGTTGCT TATGCCTGTAATCTTTGAGGTTTAAAAAAAAATTTTTTTTAATTTCCTTT TTTTTTTTTT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4931		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55153734	A A	AAAAAAAA others(87): Show AAAAAAAAAAAAAAAGGAAATTAAAAAAAATTTTTTTTAAACCTCAAAGA TTACAGGCATAAGCAACTGCACCTGGACAGCAGAGACTCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0031 a0001c0004t0001g0031	1	398	0.0025	94	c.53 others(105): Show c.5327_*5328insGAGATGGAGTCTCTGCTGTCCAGGTGCAGTTGCT TATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTAATTTCCTTTT TTTTTTTTTT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4930		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55153755	A A	AAAAAAAA others(87): Show AAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCAACTGCA CCTGGACAGCAGAGACTCCATCTCAAAAAAAAAAAAAGGAAATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	398	0.0025	94	c.53 others(105): Show c.5306_*5307insAAATTTCCTTTTTTTTTTTTTGAGATGGAGTCTC TGCTGTCCAGGTGCAGTTGCTTATGCCTGTAATCTTTGAGGTTTAAAAAA AATTTTTTTT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4909		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55153755	A A	AAAAAAAA others(87): Show AAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCAACTGCAC CTGGACAGCAGAGACTCCATCTCAAAAAAAAAAAAAAGGAAATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 NA18942.hp2 HG01496.hp1 NA18942.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0010 a0001c0001 a0009c0010	a0001c0001t0001 a0009c0010t0001 a0001c0001t0001 a0009c0010t0001	a0001c0001t0001g0027 a0009c0010t0001g0132 a0001c0001t0001g0027 a0009c0010t0001g0132	2	398	0.0050	94	c.53 others(105): Show c.5306_*5307insAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCT CTGCTGTCCAGGTGCAGTTGCTTATGCCTGTAATCTTTGAGGTTTAAAAA AAATTTTTTT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4909		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55153755	A A	AAAAAAAA others(87): Show AAAAAAAATTTTTTTTTAAACCTCAAAGATTACAGGCATAAGCAACTGCA CCTGGACAGCAGAGACTCCATCTCAAAAAAAAAAAAAGGAAATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0092 a0002c0003t0001g0092	1	398	0.0025	94	c.53 others(105): Show c.5306_*5307insAAATTTCCTTTTTTTTTTTTTGAGATGGAGTCTC TGCTGTCCAGGTGCAGTTGCTTATGCCTGTAATCTTTGAGGTTTAAAAAA AAATTTTTTT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4909		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55153756	A A	AAAAAAAA others(87): Show AAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCAACTGCAC CTGGACAGCAGAGACTCCATCTCAAAAAAAAAAAAAAGGAAATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	398	0.0025	94	c.53 others(105): Show c.5305_*5306insAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCT CTGCTGTCCAGGTGCAGTTGCTTATGCCTGTAATCTTTGAGGTTTAAAAA AAATTTTTTT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4908		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55153756	A A	AAAAAAAT others(87): Show AAAAAAATTTTTTTTTAAACCTCAAAGATTACAGGCATAAGCAACTGCAC CTGGACAGCAGAGACTCCATCTCAAAAAAAAAAAAAAGGAAATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02818.hp2 NA18942.hp1 HG02809.hp1 HG02818.hp2 NA18942.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0002 a0003c0002t0001g0006 a0003c0002t0001g0002 a0003c0002t0001g0006	3	398	0.0075	94	c.53 others(105): Show c.5305_*5306insAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCT CTGCTGTCCAGGTGCAGTTGCTTATGCCTGTAATCTTTGAGGTTTAAAAA AAAATTTTTT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4908		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55153764	T T	TTTTTTTT others(87): Show TTTTTTTTAAACCTCAAAGATTACAGGCATAAGCAACTGCACCTGGACAG CAGAGACTCCATCTCAAAAAAAAAAAAAAGGAAATTTAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	398	0.0025	94	c.52 others(105): Show c.5297_*5298insTTTTTTTTAAATTTCCTTTTTTTTTTTTTTGAGA TGGAGTCTCTGCTGTCCAGGTGCAGTTGCTTATGCCTGTAATCTTTGAGG TTTAAAAAAA	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4900		chr19	TogoVar
DNAAF5_chr7_721699_791475	782117	T T	TGTGGCCG others(87): Show TGTGGCCGCCTCCCGTCGCGCAGCGTCAGAAACTCGGATCTTCGTGGCGT GGCCGCCTCCCGACACGCGGCGTCAGAAACTCGGATCTTCCTGGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(105): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG01517.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01993.hp2 HG02055.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02717.hp2 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03209.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18939.hp1 NA18947.hp1 NA18948.hp2 NA18951.hp1 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp2 NA18970.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18993.hp2 NA18997.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19006.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19057.hp2 NA19066.hp1 NA19066.hp2 NA19077.hp2 NA19080.hp2 NA19082.hp2 NA19086.hp2 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1	a0002 a0004 a0007 others(4): Show a0002 a0004 a0007 a0008 a0014 a0016 a0017	a0002c0002 a0002c0008 a0002c0020 others(8): Show a0002c0002 a0002c0008 a0002c0020 a0002c0028 a0002c0033 a0004c0006 a0007c0013 a0008c0030 a0014c0014 a0016c0015 a0017c0021	a0002c0002t0001 a0002c0002t0009 a0002c0002t0013 others(12): Show a0002c0002t0001 a0002c0002t0009 a0002c0002t0013 a0002c0002t0015 a0002c0002t0016 a0002c0008t0001 a0002c0020t0001 a0002c0028t0001 a0002c0033t0001 a0004c0006t0001 a0007c0013t0001 a0008c0030t0001 a0014c0014t0001 a0016c0015t0003 a0017c0021t0001	a0002c0002t0001g0009 a0002c0002t0001g0016 a0002c0002t0001g0023 others(98): Show a0002c0002t0001g0009 a0002c0002t0001g0016 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0121 a0002c0002t0001g0182 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0208 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0215 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0227 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0274 a0002c0002t0001g0276 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0287 a0002c0002t0001g0291 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0302 a0002c0002t0001g0307 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0313 a0002c0002t0001g0318 a0002c0002t0001g0319 a0002c0002t0009g0204 a0002c0002t0009g0297 a0002c0002t0009g0301 a0002c0002t0013g0199 a0002c0002t0015g0305 a0002c0002t0016g0251 a0002c0008t0001g0271 a0002c0008t0001g0277 a0002c0020t0001g0304 a0002c0028t0001g0306 a0002c0033t0001g0314 a0004c0006t0001g0010 a0004c0006t0001g0220 a0004c0006t0001g0221 a0004c0006t0001g0311 a0007c0013t0001g0226 a0008c0030t0001g0286 a0014c0014t0001g0194 a0016c0015t0003g0178 a0017c0021t0001g0285	108	378	0.2857	94	c.243 others(113): Show c.2431+2016_2431+2017insTGGCGTGGCCGCCTCCCGACACGCGG CGTCAGAAACTCGGATCTTCCTGGCGTGGCCGCCTCCCGTCGCGCAGCGT CAGAAACTCGGATCTTCG	DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAAF5_chr7_721699_791475	782138	A A	AGCGTCAG others(87): Show AGCGTCAGAAACTCGGATCTTCGTGGCGTGGCCGCCTCCCGACACGCGGC GTCAGAAACTCGGATCTTCCTGGCGTGGCCGCCTCCCGTCGCGCG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0312 a0006c0011t0001g0312	1	378	0.0027	94	c.243 others(113): Show c.2431+2016_2431+2017insTGGCGTGGCCGCCTCCCGACACGCGG CGTCAGAAACTCGGATCTTCCTGGCGTGGCCGCCTCCCGTCGCGCGGCGT CAGAAACTCGGATCTTCG	DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAAF5_chr7_721699_791475	782435	C C	CATCTTCC others(87): Show CATCTTCCCGGCGTGGCCGCCTCCCGTCACGCGGCGTCAGAAACTCGCAT CTTCCTGGTGTGGCCGCCTCCCGTCACGCGGCGTCAGAAACTCGG	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18522.hp1 HG03130.hp2 NA18522.hp1	a0002 a0002	a0002c0020 a0002c0033 a0002c0020 a0002c0033	a0002c0020t0001 a0002c0033t0001 a0002c0020t0001 a0002c0033t0001	a0002c0020t0001g0304 a0002c0033t0001g0314 a0002c0020t0001g0304 a0002c0033t0001g0314	2	378	0.0053	94	c.243 others(113): Show c.2431+2298_2431+2299insCGGCGTGGCCGCCTCCCGTCACGCGG CGTCAGAAACTCGCATCTTCCTGGTGTGGCCGCCTCCCGTCACGCGGCGT CAGAAACTCGGATCTTCC	DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAI1_chr9_34453805_34525984	34492493	G G	GATAGATA others(87): Show GATAGATATAGATATAGATATCTATATATATATATATCTATATATATCTA TATATATATATAGATATAGATATATATATATATATATAGATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03098.hp2 HG06807.hp1 others(1): Show HG01243.hp2 HG03098.hp2 HG06807.hp1 NA19030.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0044 a0001c0007t0001g0045 a0001c0007t0001g0046 others(1): Show a0001c0007t0001g0044 a0001c0007t0001g0045 a0001c0007t0001g0046 a0001c0007t0001g0047	4	382	0.0105	94	c.682 others(109): Show c.682-698_682-697insGATATAGATATAGATATCTATATATATATA TATCTATATATATCTATATATATATATAGATATAGATATATATATATATA TATAGATATATATA	DNAI1	ENSG00000122735.16	transcript	ENST00000242317.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAI1_chr9_34453805_34525984	34492502	A A	AGATATAG others(87): Show AGATATAGATATCTATATATATATATATCTATATATATCTATATATATAT ATAGATATAGATATATATATATATATATAGATATATATATCTATC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0043 a0001c0007t0001g0043	1	382	0.0026	94	c.682 others(109): Show c.682-692_682-691insGATATAGATATCTATATATATATATATCTA TATATATCTATATATATATATAGATATAGATATATATATATATATATAGA TATATATATCTATC	DNAI1	ENSG00000122735.16	transcript	ENST00000242317.9	protein_coding	8/19			chr9	TogoVar
DNAJB6_chr7_157332004_157422439	157357237	T T	TTCTTTCT others(87): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCCTTTCTTTCCTTTCTTTC CTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCCTTC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	372	0.0027	94	c.-26 others(111): Show c.-26-1310_-26-1309insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCT TTCTTTCCTTTCCTTC	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	1/9			chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157357253	T T	TCTTTCTT others(87): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTTCTTCCTTTCTTTC CTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCCTTC	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	372	0.0027	94	c.-26 others(111): Show c.-26-1293_-26-1292insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTCCTTTCTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTT TCTTTCCTTTCCTTCC	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157357253	T T	TTCTTTCT others(87): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC CTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCCTTC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	372	0.0027	94	c.-26 others(111): Show c.-26-1294_-26-1293insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCT TTCTTTCCTTTCCTTC	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	1/9			chr7	TogoVar
DOC2B_chr17_137789_186650	171598	A A	AGCACCAG others(87): Show AGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCC AGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0054 a0001c0002t0054	a0001c0002t0054g0209 a0001c0002t0054g0209	1	339	0.0030	94	c.453 others(109): Show c.453+938_453+939insCCCTCTGCAGCCTGGCCCGGCCCCTGGTGC TCCCCTCTGCAGCCTGGCCCGGCCCCTGGTGCTCCCCTCTGCAGCCTGGC CCGGCCCCTGGTGC	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
DOCK1_chr10_126900428_127457516	127347845	T T	TCCCCTCC others(87): Show TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0053 a0002c0053	a0002c0053t0002 a0002c0053t0002	a0002c0053t0002g0118 a0002c0053t0002g0118	1	136	0.0074	94	c.322 others(113): Show c.3224+4099_3224+4100insCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCC	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	31/51			chr10	TogoVar
DOK7_chr4_3458306_3499482	3490111	C C	CATTCATT others(87): Show CATTCATTCCTTTCTTCACCCCCTCATTCATTCCTTTCTTCACCCCCTCA TTCATTCCTTTCTTCACCCCCATTCATTCCTTTCTTCACCCCCTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0111 a0001c0001t0037g0111	1	404	0.0025	94	c.772 others(109): Show c.772+327_772+328insCTTCACCCCCTCATTCATTCCTTTCTTCAC CCCCTCATTCATTCCTTTCTTCACCCCCATTCATTCCTTTCTTCACCCCC TTATTCATTCCTTT	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DPEP1_chr16_89608642_89643433	89634674	C C	CCCTTCCT others(87): Show CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0128 a0003c0004t0002g0128	1	250	0.0040	94	c.105 others(111): Show c.105-1232_105-1231insTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634698	T T	TTCTCCTT others(87): Show TTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTT CCCTTTCCCCTTCCTTCCCTTTCCCATCCTTCTCCTTTCCCTTCC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	250	0.0040	94	c.105 others(111): Show c.105-1208_105-1207insTCCTTTCCCCTTCCTTCTCCTTTCCCTT CCTTCCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCATCCTT CTCCTTTCCCTTCCTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634818	C C	CCCTTCCT others(87): Show CCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	250	0.0040	94	c.105 others(111): Show c.105-1088_105-1087insTTCCTTCCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634818	C C	CCCTTCCT others(87): Show CCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCCCCTTTCCCTTCCTTCTCCTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	250	0.0040	94	c.105 others(111): Show c.105-1088_105-1087insTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCCTTTCC CTTCCTTCTCCTTTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPF3_chr14_72604034_72899101	72884953	T T	TATATATA others(87): Show TATATATATATATATATATATATATATATATATATATACATATATATATA TATATATATGTATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0105 a0001c0001t0066g0105	1	234	0.0043	94	c.32+ others(109): Show c.32+9103_32+9104insGTATATATATATATATATATATATATATAT ATATACATATATATATATATATATATGTATATATATATATATATATATAT ATATATATATATAT	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	1/10			chr14	TogoVar
DPH1_chr17_2025153_2048898	2034761	C C	CCTCCCCT others(87): Show CCTCCCCTGCTGCCCCCCTCCCCTCCTCCCCCACTCCCCTGCTGCCCCCT CCCCTCCTCCCCCACTCCCCTGCTGCCCCCTCCCTTCCTCCCCCA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0091 a0003c0004t0001g0091	1	392	0.0026	94	c.278 others(109): Show c.278+935_278+936insCTCCCCTCCTCCCCCACTCCCCTGCTGCCC CCTCCCCTCCTCCCCCACTCCCCTGCTGCCCCCTCCCTTCCTCCCCCACT CCCCTGCTGCCCCC	DPH1	ENSG00000108963.19	transcript	ENST00000263083.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DPP9_chr19_4670227_4728842	4672082	T T	TGTGAATA others(87): Show TGTGAATATATATATTCATATATTCACATATGTGAATATATATATTCATA TATTCACATATGTGAATATATATATTCATATATTCACATATGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00741.hp1 HG01243.hp2 others(3): Show HG00738.hp2 HG00741.hp1 HG01243.hp2 HG03239.hp2 HG03927.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 others(3): Show a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0265 a0001c0001t0001g0297 a0001c0001t0004g0011	6	314	0.0191	94	c.44 others(105): Show c.4481_*4482insTCACATATGTGAATATATGAATATATATATTCAC ATATGTGAATATATGAATATATATATTCACATATGTGAATATATGAATAT ATATATTCAC	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding		3144		chr19	TogoVar
DR1_chr1_93340907_93374493	93344857	T T	TTATATAT others(87): Show TTATATATATATAAATATATATTATATATATATAATATATATAAATATAT ATTATATATATATAATATATATAAATATATATTATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	360	0.0028	94	c.-17 others(105): Show c.-1789_-1788insTATATATATATAAATATATATTATATATATATAA TATATATAAATATATATTATATATATATAATATATATAAATATATATTAT ATATATATAA	DR1	ENSG00000117505.13	transcript	ENST00000370272.9	protein_coding		1049		chr1	TogoVar
DUS3L_chr19_5780140_5796163	5796129	G G	GCCTTCTT others(87): Show GCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	364	0.0028	94	c.-49 others(105): Show c.-4989_-4988insAGAAGAAGAAGAAGAAGAAGGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGG	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding		4967		chr19	TogoVar
DUS3L_chr19_5780140_5796163	5796129	G G	GCCTTCTT others(87): Show GCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	364	0.0028	94	c.-49 others(105): Show c.-4989_-4988insAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGG	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding		4967		chr19	TogoVar
DUS3L_chr19_5780140_5796163	5796129	G G	GCCTTCTT others(87): Show GCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA18984.hp2 NA18975.hp2 NA18984.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0022 a0002c0001t0002g0001 a0002c0001t0002g0022	2	364	0.0055	94	c.-49 others(105): Show c.-4989_-4988insAGAAGAAGAAGAAGAAGAAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGG	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding		4967		chr19	TogoVar
DYM_chr18_49031387_49465645	49440488	T T	TTATATAT others(87): Show TTATATATGACTATATATTATATATTTATATATGACTATATATTATATAT TTATATATGACTATATATTATATATATATATGACTATATATTATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0008 a0001c0003t0024g0008	1	290	0.0035	94	c.-53 others(113): Show c.-53-10042_-53-10041insTATAATATATAGTCATATATATATAT AATATATAGTCATATATAAATATATAATATATAGTCATATATAAATATAT AATATATAGTCATATATA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
EDA_chrX_69611113_70044472	69645586	A A	ATATATAT others(87): Show ATATATATATATATATATATATATATATATATATATATATATATGTGTAT ATATATATATATATATATATGTGTATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	226	0.0044	94	c.396 others(113): Show c.396+28889_396+28890insATATATATATATATATATATATATAT ATATATATATGTGTATATATATATATATATATATATGTGTATATATATAT ATATATATGTGTATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69645586	A A	ATATATAT others(87): Show ATATATATATATATATATATATATATATATATATATATATATGTGTATAT ATATATATATATATATATGTGTATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG00099.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0043 a0001c0001t0018g0042 a0001c0001t0001g0043 a0001c0001t0018g0042	2	226	0.0089	94	c.396 others(113): Show c.396+28889_396+28890insATATATATATATATATATATATATAT ATATATATGTGTATATATATATATATATATATATGTGTATATATATATAT ATATATATGTGTATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EGFLAM_chr5_38253559_38470480	38256762	T T	TAAAGAAA others(87): Show TAAAGAAAGGCCTCTACGAGATCCCGCCACTGCACTCCAGCCTGGGCGAC AGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0028 a0010c0012t0028	a0010c0012t0028g0117 a0010c0012t0028g0117	1	190	0.0053	94	c.-19 others(105): Show c.-1993_-1992insAAAGAAAGGCCTCTACGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAA	EGFLAM	ENSG00000164318.18	transcript	ENST00000322350.10	protein_coding		1796		chr5	TogoVar
EGFLAM_chr5_38253559_38470480	38396045	T T	TTCACTGT others(87): Show TTCACTGTACCCACTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTGGCCCAGGTGGGAGTGCAGTGGCGCAATCTCGGC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02976.hp2 HG03041.hp1 others(3): Show HG02055.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0022	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0022c0027	a0001c0001t0006 a0001c0001t0017 a0002c0002t0023 others(3): Show a0001c0001t0006 a0001c0001t0017 a0002c0002t0023 a0003c0003t0006 a0004c0004t0005 a0022c0027t0007	a0001c0001t0006g0086 a0001c0001t0017g0085 a0002c0002t0023g0072 others(3): Show a0001c0001t0006g0086 a0001c0001t0017g0085 a0002c0002t0023g0072 a0003c0003t0006g0090 a0004c0004t0005g0127 a0022c0027t0007g0159	6	190	0.0316	94	c.713 others(113): Show c.713-10063_713-10062insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTGGCCCAGGTGGGAGTGCAGTGGCGCAATCTCGGC TCACTGTACCCACTCTTT	EGFLAM	ENSG00000164318.18	transcript	ENST00000322350.10	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
EIF4G3_chr1_20801479_21181897	20989056	A A	AGGAGGGG others(87): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18939.hp1 HG02132.hp2 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0199 a0001c0001t0003g0258 a0001c0001t0001g0199 a0001c0001t0003g0258	2	312	0.0064	94	c.178 others(111): Show c.178-6649_178-6648insCCTCCCCTCCCCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	7/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20989056	A A	AGGAGGGG others(87): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0287 a0001c0001t0005g0287	1	312	0.0032	94	c.178 others(111): Show c.178-6649_178-6648insCCTCCCCTCCCCTCCCCCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	7/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20989056	A A	AGGAGGGG others(87): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0294 a0001c0001t0005g0294	1	312	0.0032	94	c.178 others(111): Show c.178-6649_178-6648insCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	7/36			chr1	TogoVar
ENTR1_chr9_136396922_136415614	136403322	G G	GGGGGGAG others(87): Show GGGGGGAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGG GGGAGAAAGGGACAGGGTTCCAGGGAGCAAGGGGTGGGGTTTGCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02922.hp1 HG03017.hp1 others(3): Show HG02622.hp2 HG02922.hp1 HG03017.hp1 HG03453.hp1 HG03516.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0001g0140 others(3): Show a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0001g0140 a0001c0001t0001g0148 a0001c0001t0001g0159 a0001c0001t0001g0176	6	412	0.0146	94	c.120 others(111): Show c.1209-436_1209-435insGGCAAACCCCACCCCTTGCTCCCTGGAA CCCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCC TGTCCCTTTCTCCCCC	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
ENTR1_chr9_136396922_136415614	136403327	G G	GAGAAAGG others(87): Show GAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAG AAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	412	0.0024	94	c.120 others(111): Show c.1209-441_1209-440insTCCCCGGCAAACCCCACCCCTTGCTCCC TGGGACCCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGG GACCCTGTCCCTTTCT	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
ENTR1_chr9_136396922_136415614	136403393	A A	AGGGAGCA others(87): Show AGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTCCCAGG GAGCAAGGGGTGGGGTTTGCCGGGGAAGAAAGGGACAGGGTTCCT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	412	0.0024	94	c.120 others(111): Show c.1209-507_1209-506insAGGAACCCTGTCCCTTTCTTCCCCGGCA AACCCCACCCCTTGCTCCCTGGGACCCTGTCCCTTTCTCCCCCGGCAAAC CCCACCCCTTGCTCCC	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
EPHA7_chr6_93235020_93424559	93291597	T T	TCTCTACT others(87): Show TCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGT AGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02895.hp1 HG02897.hp1 others(2): Show HG02647.hp2 HG02895.hp1 HG02897.hp1 HG03041.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0014 a0001c0002 a0001c0014	a0001c0002t0007 a0001c0002t0020 a0001c0014t0007 a0001c0002t0007 a0001c0002t0020 a0001c0014t0007	a0001c0002t0007g0006 a0001c0002t0007g0007 a0001c0002t0007g0181 others(2): Show a0001c0002t0007g0006 a0001c0002t0007g0007 a0001c0002t0007g0181 a0001c0002t0020g0265 a0001c0014t0007g0054	5	280	0.0179	94	c.132 others(115): Show c.1325-19269_1325-19176dupGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAG	EPHA7	ENSG00000135333.15	transcript	ENST00000369303.9	protein_coding	5/16			chr6	TogoVar
EPHA7_chr6_93235020_93424559	93291642	C C	CCTGTAGT others(87): Show CCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02965.hp1 HG01109.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0008 a0001c0002t0007g0058 a0001c0002t0007g0008 a0001c0002t0007g0058	2	280	0.0071	94	c.132 others(115): Show c.1325-19221_1325-19220insTCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAG	EPHA7	ENSG00000135333.15	transcript	ENST00000369303.9	protein_coding	5/16			chr6	TogoVar
EPHB4_chr7_100797565_100832523	100800990	G G	GCATTCAT others(87): Show GCATTCATGGTGGGGAGCTGGATGTGGCAGGAAGGCTCAGGGCAGCCTGG AGCTCTTGGGGCTGGACCTCAGGGGGCTTCTGCAGCCCCCTGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0002 a0005c0017t0002	a0005c0017t0002g0039 a0005c0017t0002g0039	1	364	0.0028	94	c.24 others(105): Show c.2470_*2471insGGGCAGGGGGCTGCAGAAGCCCCCTGAGGTCCAG CCCCAAGAGCTCCAGGCTGCCCTGAGCCTTCCTGCCACATCCAGCTCCCC ACCATGAATG	EPHB4	ENSG00000196411.10	transcript	ENST00000358173.8	protein_coding		1574		chr7	TogoVar
ERBB4_chr2_211370717_212543802	212331058	G G	GTATATAT others(87): Show GTATATATATATATATATATATATACACATATATATATATATATATACAC GTATATATATATATATATATATATATACACGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01243.hp2 HG01192.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0032 a0001c0002t0001g0037 a0001c0001t0002g0032 a0001c0002t0001g0037	2	56	0.0357	94	c.83- others(113): Show c.83-206156_83-206155insTATATATATATATACGTGTATATATA TATATATATATATATATACGTGTATATATATATATATATATGTGTATATA TATATATATATATATATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212331058	G G	GTATATAT others(87): Show GTATATATATATATATATATATATACACATATATATATATATATATACAC GTATATATATATATATATATATATATATACACGTATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0027 a0001c0002t0013g0027	1	56	0.0179	94	c.83- others(113): Show c.83-206156_83-206155insTATATATATATACGTGTATATATATA TATATATATATATATATACGTGTATATATATATATATATATGTGTATATA TATATATATATATATATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212331058	G G	GTATATAT others(87): Show GTATATATATATATATATATATATATACACATATATATATATATATATAC ACGTATATATATATATATATATATATATACACGTATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0031	1	56	0.0179	94	c.83- others(113): Show c.83-206156_83-206155insTATATATATATACGTGTATATATATA TATATATATATATATACGTGTATATATATATATATATATGTGTATATATA TATATATATATATATATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBIN_chr5_65921575_66087546	66018506	T T	TTATATTA others(87): Show TTATATTATATAATATATATTATATATTATAATATATAATATATATTATA TAATATATATTATATAATATATATTATATAATATATATTATATAA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	306	0.0033	94	c.534 others(111): Show c.534-2811_534-2810insTATATAATATATATTATATATTATAATA TATAATATATATTATATAATATATATTATATAATATATATTATATAATAT ATATTATATAATATAT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	1121839	C C	CTCTATCT others(87): Show CTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCT CTATCTGTGTCTCTATCTCTATATCTCTATCTCTATCTCTATCTG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0108 a0001c0001t0108	a0001c0001t0108g0064 a0001c0001t0108g0064	1	162	0.0062	94	c.156 others(113): Show c.1569+5807_1569+5808insCTATCTCTATCTCTATCTGTGTCTCT ATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATATCTCT ATCTCTATCTCTATCTGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122045	A A	ATCTCTAT others(87): Show ATCTCTATCTCTATATCTGTGTCTCTATCTCTATCTCTATCTGTATCTCT ATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0108 a0001c0001t0108	a0001c0001t0108g0064 a0001c0001t0108g0064	1	162	0.0062	94	c.156 others(113): Show c.1569+6015_1569+6016insCTATCTCTATATCTGTGTCTCTATCT CTATCTCTATCTGTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGT GTCTCTATCTCTATCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar

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