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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DLGAP2_chr8_732628_1713476	1407245	GGAGTCGT others(39): Show GGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01071.hp2 HG01361.hp1 others(8): Show HG00639.hp1 HG01071.hp2 HG01361.hp1 HG01496.hp1 HG02258.hp1 HG02698.hp2 HG02976.hp2 HG03492.hp2 HG03710.hp1 HG03710.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0002c0004 a0001c0002 a0002c0001 a0002c0004	a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 others(7): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0022 a0002c0001t0001 a0002c0001t0003 a0002c0001t0005 a0002c0001t0011 a0002c0004t0003 a0002c0004t0018	a0001c0002t0001g0015 a0001c0002t0001g0019 a0001c0002t0002g0022 others(8): Show a0001c0002t0001g0015 a0001c0002t0001g0019 a0001c0002t0002g0022 a0001c0002t0010g0008 a0001c0002t0022g0034 a0002c0001t0001g0018 a0002c0001t0003g0021 a0002c0001t0005g0029 a0002c0001t0011g0002 a0002c0004t0003g0009 a0002c0004t0018g0010	11	39	0.2821	-46	c.107 others(65): Show c.107-94091_107-94046delCACCTCCTCATCCTCCAGAGTCGTGT ATTGAGTGCTTACTGAGCGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1407517	GTCCAGAG others(39): Show GTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCATCC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18906.hp1 HG02647.hp2 NA18906.hp1	a0002 a0004 a0002 a0004	a0002c0001 a0004c0008 a0002c0001 a0004c0008	a0002c0001t0002 a0004c0008t0016 a0002c0001t0002 a0004c0008t0016	a0002c0001t0002g0013 a0004c0008t0016g0028 a0002c0001t0002g0013 a0004c0008t0016g0028	2	30	0.0667	-46	c.107 others(65): Show c.107-93675_107-93630delCCTCCTCATCCTCCAGAGTCGTGTAT TGAGTGCTTACTGAGCGCCA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1407695	CTCATCCT others(39): Show CTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCAGCTCG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01496.hp2 HG02074.hp1 others(3): Show HG00639.hp2 HG01496.hp2 HG02074.hp1 HG02895.hp1 HG02922.hp1 HG03516.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0010 a0002c0001 others(1): Show a0001c0003 a0001c0010 a0002c0001 a0003c0005	a0001c0003t0001 a0001c0010t0025 a0002c0001t0020 others(2): Show a0001c0003t0001 a0001c0010t0025 a0002c0001t0020 a0003c0005t0002 a0003c0005t0004	a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0010t0025g0012 others(3): Show a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0010t0025g0012 a0002c0001t0020g0024 a0003c0005t0002g0030 a0003c0005t0004g0037	6	40	0.1500	-46	c.107 others(65): Show c.107-93629_107-93584delGCTCGTCATCCTCCAGAGTCGTGTAT TGAGTGCTTACTGAGCGCCA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1417647	AGCCCCAC others(39): Show AGCCCCACTCCTGCCTCACTCCGCGAGGCTCCAGGGGGGCACAGGGG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0007 a0001c0003t0013g0007	1	28	0.0357	-46	c.107 others(65): Show c.107-83698_107-83653delCGCGAGGCTCCAGGGGGGCACAGGGG GCCCCACTCCTGCCTCACTC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32042148	TACATACA others(39): Show TACATACATATACACACATATGTATACATATATACATACATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0018 a0003c0008t0018	a0003c0008t0018g0001 a0003c0008t0018g0001	1	126	0.0079	-46	c.643 others(67): Show c.6439-73680_6439-73635delGTGTATATGTATGTATATATGTAT ACATATGTGTGTATATGTATGT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar
DNAAF5_chr7_721699_791475	782584	CGGCGTGG others(39): Show CGGCGTGGCCGCGTCCCGTTACGCAGCGTCAGAAACTCGATATTCCT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	143	0.0070	-46	c.243 others(65): Show c.2431+2452_2431+2497delGTCCCGTTACGCAGCGTCAGAAACTC GATATTCCTGGCGTGGCCGC	DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAAF5_chr7_721699_791475	782625	ATTCCTGG others(39): Show ATTCCTGGCGTGGCCGCCTCCCGTCACGCAGCGTCAGAAACTCGATC	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01884.hp1 HG02132.hp1 others(28): Show HG00621.hp1 HG01884.hp1 HG02132.hp1 HG02602.hp1 HG02809.hp1 NA18612.hp1 NA18906.hp2 NA18939.hp2 NA18955.hp2 NA18957.hp2 NA18962.hp1 NA18973.hp1 NA18979.hp1 NA18982.hp2 NA18986.hp1 NA18989.hp1 NA18997.hp1 NA18999.hp2 NA19005.hp1 NA19006.hp1 NA19012.hp2 NA19055.hp2 NA19056.hp2 NA19058.hp1 NA19062.hp2 NA19064.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19086.hp1 NA19088.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0001c0019 a0016c0028 a0001c0001 a0001c0019 a0016c0028	a0001c0001t0004 a0001c0001t0014 a0001c0019t0004 others(1): Show a0001c0001t0004 a0001c0001t0014 a0001c0019t0004 a0016c0028t0004	a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0106 others(26): Show a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0237 a0001c0001t0014g0250 a0001c0019t0004g0174 a0016c0028t0004g0173	31	130	0.2385	-46	c.243 others(65): Show c.2431+2617_2431+2662delATCTTCCTGGCGTGGCCGCCTCCCGT CACGCAGCGTCAGAAACTCG	DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJB12_chr10_72327863_72359919	72356829	GATATATA others(39): Show GATATATATATATATATATATATATATATATATATATATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 NA18522.hp1 HG02896.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0057 a0001c0001t0008g0058 a0001c0001t0008g0057 a0001c0001t0008g0058	2	10	0.2000	-46	c.-19 others(57): Show c.-1978_-1933delATATATATATATATATATATATATATATATATAT ATATATATATAT	DNAJB12	ENSG00000148719.16	transcript	ENST00000444643.8	protein_coding		1911		chr10	TogoVar
DNAJC1_chr10_21751548_22008730	21837797	CGGCCAGC others(39): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGCAGCCCCCGCCT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0161 a0004c0007t0002g0161	1	162	0.0062	-46	c.979 others(65): Show c.979-31744_979-31699delAGGCGGGGGCTGCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCC	DNAJC1	ENSG00000136770.11	transcript	ENST00000376980.8	protein_coding	8/11			chr10	TogoVar
DNAJC3_chr13_95672139_95799988	95764661	TATATATA others(39): Show TATATATATATATATATATATATACACACACACACATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03516.hp1 HG01884.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0371 a0001c0001t0022g0372 a0001c0001t0022g0371 a0001c0001t0022g0372	2	372	0.0054	-46	c.107 others(63): Show c.1075+720_1075+765delTATATATATATACACACACACACATATA TATATACATATATATATA	DNAJC3	ENSG00000102580.15	transcript	ENST00000602402.6	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
DNMT3A_chr2_25222874_25346925	25300712	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0250 a0001c0001t0022g0250	1	97	0.0103	-46	c.73- others(59): Show c.73-515_73-470delATATATATATATATATATATATATATATATAT ATATATATATATAT	DNMT3A	ENSG00000119772.19	transcript	ENST00000321117.10	protein_coding	2/22			chr2	TogoVar
DNTTIP1_chr20_45786954_45816418	45800690	AAAAAATA others(39): Show AAAAAATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18960.hp2 NA18973.hp2 NA18947.hp2 NA18960.hp2 NA18973.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0012 a0002c0003t0001g0012	3	368	0.0082	-46	c.373 others(61): Show c.373-382_373-337delAAAATATATATATATATATATATATATATA TATATATATATATATA	DNTTIP1	ENSG00000101457.13	transcript	ENST00000372622.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOCK1_chr10_126900428_127457516	127397738	CGACTCCT others(39): Show CGACTCCTGTATGACACGGGCAGCGACTCCTGTATGACACGGGCAGT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02145.hp1 HG02257.hp1 others(8): Show HG01192.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02809.hp2 HG02818.hp1 HG03041.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0006 a0001c0052 a0002c0010 others(6): Show a0001c0006 a0001c0052 a0002c0010 a0004c0013 a0004c0020 a0004c0032 a0004c0039 a0004c0051 a0007c0076	a0001c0006t0001 a0001c0052t0002 a0002c0010t0002 others(7): Show a0001c0006t0001 a0001c0052t0002 a0002c0010t0002 a0004c0013t0003 a0004c0013t0004 a0004c0020t0003 a0004c0032t0004 a0004c0039t0003 a0004c0051t0003 a0007c0076t0004	a0001c0006t0001g0041 a0001c0052t0002g0035 a0002c0010t0002g0001 others(8): Show a0001c0006t0001g0041 a0001c0052t0002g0035 a0002c0010t0002g0001 a0002c0010t0002g0040 a0004c0013t0003g0036 a0004c0013t0004g0125 a0004c0020t0003g0033 a0004c0032t0004g0106 a0004c0039t0003g0006 a0004c0051t0003g0026 a0007c0076t0004g0062	11	126	0.0873	-46	c.392 others(65): Show c.3928-5294_3928-5249delCGACTCCTGTATGACACGGGCAGTGA CTCCTGTATGACACGGGCAG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	38/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK4_chr7_111721110_112211399	112066670	CATATACA others(39): Show CATATACATATATACATATACATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0089 a0007c0009t0001g0089	1	62	0.0161	-46	c.38- others(63): Show c.38-62585_38-62540delATATATATATATATATATATATATATGT ATATGTATATATGTATAT	DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	1/52			chr7	TogoVar
DOCK5_chr8_25179689_25420711	25246729	TGTGTGTG others(39): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGGCGGGGGCGGGGTGGGGCA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02622.hp2 others(4): Show HG01167.hp2 HG01169.hp2 HG02622.hp2 HG02723.hp1 HG03209.hp2 HG03453.hp1 NA18522.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0002c0057 others(1): Show a0001c0002 a0001c0004 a0002c0057 a0003c0025	a0001c0002t0015 a0001c0002t0028 a0001c0004t0016 others(4): Show a0001c0002t0015 a0001c0002t0028 a0001c0004t0016 a0001c0004t0069 a0002c0057t0060 a0003c0025t0066 a0003c0025t0067	a0001c0002t0015g0152 a0001c0002t0028g0154 a0001c0004t0016g0097 others(4): Show a0001c0002t0015g0152 a0001c0002t0028g0154 a0001c0004t0016g0097 a0001c0004t0069g0175 a0002c0057t0060g0010 a0003c0025t0066g0013 a0003c0025t0067g0014	7	208	0.0337	-46	c.127 others(63): Show c.127+2977_127+3022delGTGTGTGTGTGTGTGTGTGTGTGGCGGG GGCGGGGTGGGGCAGTGT	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	2/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOK6_chr18_69395888_69854087	69597702	TCGCCTGC others(39): Show TCGCCTGCTCAACCTCAGCTGGAAGCGTGCACATCTGGAGACTCAAA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01261.hp1 HG01884.hp2 others(3): Show HG00735.hp2 HG01261.hp1 HG01884.hp2 HG02683.hp2 HG03834.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0078 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0078 a0001c0002t0037 a0001c0003t0016	a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0005g0133 others(3): Show a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0005g0133 a0001c0001t0078g0130 a0001c0002t0037g0010 a0001c0003t0016g0123	6	168	0.0357	-46	c.175 others(63): Show c.175-1651_175-1606delCATCTGGAGACTCAAACGCCTGCTCAAC CTCAGCTGGAAGCGTGCA	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69597733	CATCTGGA others(39): Show CATCTGGAGACTCAAACGCCTGCTCAACCTCAGCTGGAAGCGTGCAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp1 HG02109.hp1 others(2): Show HG01081.hp2 HG01109.hp1 HG02109.hp1 HG02970.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0092 a0001c0003t0030 a0001c0003t0048 others(2): Show a0001c0001t0092 a0001c0003t0030 a0001c0003t0048 a0001c0003t0065 a0001c0003t0082	a0001c0001t0092g0049 a0001c0003t0030g0057 a0001c0003t0048g0029 others(2): Show a0001c0001t0092g0049 a0001c0003t0030g0057 a0001c0003t0048g0029 a0001c0003t0065g0008 a0001c0003t0082g0062	5	168	0.0298	-46	c.175 others(63): Show c.175-1635_175-1590delCGCCTGCTCAACCTCAGCTGGAAGCGTG CATATCTGGAGACTCAAA	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69659916	ATATAACA others(39): Show ATATAACATATATGTATGTTTTATATATATAACATATATGTATGTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00558.hp2 others(46): Show HG00423.hp1 HG00544.hp1 HG00558.hp2 HG00642.hp2 HG00735.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01175.hp1 HG01192.hp1 HG01358.hp1 HG01517.hp2 HG01943.hp1 HG02083.hp1 HG02083.hp2 HG02145.hp2 HG02155.hp2 HG02451.hp2 HG02559.hp2 HG02683.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02965.hp2 HG03098.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03834.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18960.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18971.hp2 NA18979.hp1 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19043.hp1 NA19079.hp1 NA20129.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(36): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0042 a0001c0001t0044 a0001c0001t0067 a0001c0001t0080 a0001c0001t0085 a0001c0001t0104 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0016 a0001c0002t0037 a0001c0002t0039 a0001c0002t0052 a0001c0002t0066 a0001c0002t0084 a0001c0002t0089 a0001c0002t0093 a0001c0002t0103 a0001c0003t0002 a0001c0003t0003 a0001c0003t0006 a0001c0003t0049 a0001c0003t0070 a0001c0003t0091 a0001c0003t0094 a0001c0003t0097 a0001c0005t0102 a0002c0004t0019	a0001c0001t0001g0048 a0001c0001t0001g0071 a0001c0001t0001g0100 others(46): Show a0001c0001t0001g0048 a0001c0001t0001g0071 a0001c0001t0001g0100 a0001c0001t0001g0121 a0001c0001t0001g0145 a0001c0001t0001g0162 a0001c0001t0005g0005 a0001c0001t0008g0151 a0001c0001t0009g0103 a0001c0001t0011g0095 a0001c0001t0011g0148 a0001c0001t0012g0097 a0001c0001t0014g0143 a0001c0001t0042g0169 a0001c0001t0044g0037 a0001c0001t0067g0146 a0001c0001t0080g0167 a0001c0001t0085g0125 a0001c0001t0104g0090 a0001c0002t0001g0072 a0001c0002t0002g0046 a0001c0002t0002g0099 a0001c0002t0004g0117 a0001c0002t0004g0118 a0001c0002t0007g0124 a0001c0002t0008g0070 a0001c0002t0009g0144 a0001c0002t0010g0066 a0001c0002t0010g0116 a0001c0002t0016g0109 a0001c0002t0037g0010 a0001c0002t0039g0132 a0001c0002t0052g0098 a0001c0002t0066g0164 a0001c0002t0084g0126 a0001c0002t0089g0047 a0001c0002t0093g0012 a0001c0002t0103g0161 a0001c0003t0002g0111 a0001c0003t0003g0137 a0001c0003t0006g0152 a0001c0003t0049g0131 a0001c0003t0070g0120 a0001c0003t0091g0020 a0001c0003t0094g0160 a0001c0003t0097g0089 a0001c0005t0102g0085 a0002c0004t0019g0083 a0002c0004t0019g0084	49	168	0.2917	-46	c.290 others(65): Show c.290-17813_290-17768delACATATATGTATGTTTTATATATATA ACATATATGTATGTTTTATA	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DONSON_chr21_33572551_33593684	33577604	TACACACA others(39): Show TACACACACACACACACACACACACACACACACACACACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01255.hp2 HG01952.hp2 HG02040.hp1 others(3): Show HG01255.hp2 HG01952.hp2 HG02040.hp1 HG02083.hp1 HG02965.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0096 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0096 a0001c0001t0001g0111 a0001c0001t0001g0250 a0001c0001t0001g0300	6	77	0.0779	-46	c.65 others(55): Show c.657_*702delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	10/10	657		chr21	TogoVar
DPEP2NB_chr16_68008436_68020911	68020835	ATATATAT others(39): Show ATATATATATACGTATGTATATATATATATATATATATATATATACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18991.hp1 NA19010.hp2 others(1): Show NA18940.hp1 NA18991.hp1 NA19010.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	4	355	0.0113	-46	c.-51 others(57): Show c.-5111_-5066delCGTATATATATATATATATATATATATATACATA CGTATATATATA	DPEP2NB	ENSG00000263201.1	transcript	ENST00000574912.1	protein_coding		4925		chr16	TogoVar
DPH1_chr17_2025153_2048898	2032937	TTAGCCAG others(39): Show TTAGCCAGGATGGTCTCGATCTCCTGATCTCGTGATCCGCCCGCCTC	T T	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	390	0.0026	-46	c.62- others(59): Show c.62-567_62-522delTAGCCAGGATGGTCTCGATCTCCTGATCTCGT GATCCGCCCGCCTC	DPH1	ENSG00000108963.19	transcript	ENST00000263083.12	protein_coding	1/12			chr17	TogoVar
DPYSL5_chr2_26843132_26955351	26932121	AAGAGAAA others(39): Show AAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01167.hp2 HG02976.hp2 HG00733.hp2 HG01167.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0068 a0001c0001t0013g0074 a0001c0001t0013g0075 a0001c0001t0003g0068 a0001c0001t0013g0074 a0001c0001t0013g0075	3	221	0.0136	-46	c.714 others(61): Show c.714+439_714+484delGAGAAAGAAAGAAAGAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRD3_chr3_114122580_114184052	114156715	GTCTTTCT others(39): Show GTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp2 HG00738.hp1 others(27): Show HG00438.hp2 HG00642.hp2 HG00738.hp1 HG01169.hp2 HG01261.hp1 HG01346.hp1 HG02056.hp1 HG02148.hp2 HG02280.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02647.hp1 HG03130.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18951.hp2 NA18956.hp1 NA18960.hp1 NA18965.hp1 NA18993.hp2 NA18999.hp2 NA19009.hp2 NA19030.hp2 NA19056.hp1 NA19062.hp1 NA19067.hp1 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0006 others(1): Show a0001c0002 a0001c0003 a0001c0006 a0002c0001	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 others(3): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0006t0001 a0002c0001t0001	a0001c0002t0001g0019 a0001c0002t0001g0223 a0001c0002t0001g0227 others(25): Show a0001c0002t0001g0019 a0001c0002t0001g0223 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0233 a0001c0002t0001g0236 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0278 a0001c0002t0001g0283 a0001c0002t0001g0285 a0001c0002t0003g0232 a0001c0002t0003g0271 a0001c0002t0004g0224 a0001c0003t0001g0055 a0001c0003t0001g0056 a0001c0006t0001g0009 a0002c0001t0001g0208	30	287	0.1045	-46	c.383 others(63): Show c.383+2994_383+3039delAAGAAAGAAAGAAAGAAAAAGAAAGAAA GAAAGAAAGAAAGAAAGA	DRD3	ENSG00000151577.14	transcript	ENST00000383673.5	protein_coding	3/6			chr3	TogoVar
DTD1_chr20_18583054_18771644	18708241	TATAATAT others(39): Show TATAATATATATTATATATATATTTTATATATATATAATATATATTA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0005 a0001c0001t0013g0005	1	319	0.0031	-46	c.478 others(65): Show c.478-35858_478-35813delATAATATATATTATATATATATTTTA TATATATATAATATATATTA	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5			chr20	TogoVar
DUS2_chr16_68018284_68084320	68020835	ATATATAT others(39): Show ATATATATATACGTATGTATATATATATATATATATATATATATACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA19010.hp1 NA19055.hp2 NA18940.hp1 NA19010.hp1 NA19055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0048 a0001c0002t0001g0004 a0001c0002t0001g0048	3	227	0.0132	-46	c.-26 others(57): Show c.-2614_-2569delTATATATATACGTATGTATATATATATATATATA TATATATATACG	DUS2	ENSG00000167264.18	transcript	ENST00000565263.6	protein_coding		2448		chr16	TogoVar
EAPP_chr14_34510938_34544701	34538320	AGTGAGCC others(39): Show AGTGAGCCAAGATTGCACCAGTGCACTCCAGCCTGGCTGACAGAGTG	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	358	0.0028	-46	c.74+ others(61): Show c.74+1189_74+1234delCACTCTGTCAGCCAGGCTGGAGTGCACTGG TGCAATCTTGGCTCAC	EAPP	ENSG00000129518.10	transcript	ENST00000250454.8	protein_coding	1/5			chr14	TogoVar
EBLN2_chr3_73056659_73068337	73067276	AAAACTGA others(39): Show AAAACTGATGCAAACAGTTTCTGACACTGTATAATATGCTTTTGGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	426	0.0023	-46	c.43 others(57): Show c.4377_*4422delAAACTGATGCAAACAGTTTCTGACACTGTATAAT ATGCTTTTGGGT	EBLN2	ENSG00000255423.1	transcript	ENST00000533473.1	protein_coding		3940		chr3	TogoVar
ECHS1_chr10_133357485_133378354	133366581	TTGGATGC others(39): Show TTGGATGCTGCCCGGGGTTTCTGTGGGGCTCCCACGAGGGGGACACC	T T	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	352	0.0028	-46	c.619 others(61): Show c.619+262_619+307delGGTGTCCCCCTCGTGGGAGCCCCACAGAAA CCCCGGGCAGCATCCA	ECHS1	ENSG00000127884.5	transcript	ENST00000368547.4	protein_coding	5/7			chr10	TogoVar
ECHS1_chr10_133357485_133378354	133366638	CCTGGGTT others(39): Show CCTGGGTTTCTGTGGGGCTCCCCCATGGGGGACACCTGGATGCAGCT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0121 a0003c0007t0001g0121	1	352	0.0028	-46	c.619 others(61): Show c.619+205_619+250delAGCTGCATCCAGGTGTCCCCCATGGGGGAG CCCCACAGAAACCCAG	ECHS1	ENSG00000127884.5	transcript	ENST00000368547.4	protein_coding	5/7			chr10	TogoVar
EIF2AK2_chr2_37094210_37161980	37161227	AAAAAAAA others(39): Show AAAAAAAAAAAGAAAGAAAGAGAAAGAAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0023 a0001c0001t0037g0023	1	320	0.0031	-46	c.-45 others(57): Show c.-4549_-4504delCTTTCTTTCTTTCTTTCTTTTCTTTCTCTTTCTT TCTTTTTTTTTT	EIF2AK2	ENSG00000055332.19	transcript	ENST00000233057.9	protein_coding		4248		chr2	TogoVar
EIF4A1_chr17_7567825_7584006	7571866	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATATAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 NA19011.hp1 HG02647.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0002g0015 a0001c0001t0001g0004 a0001c0001t0002g0015	2	434	0.0046	-46	c.-97 others(55): Show c.-975_-930delATATATATATATATATATATATATATATATATATAT ATATATAAAA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		958		chr17	TogoVar
EIPR1_chr2_3183970_3382818	3287223	GTTCACCA others(39): Show GTTCACCACAATCCAGAAAGCTCGTTCACCACACTCCAGAAAGCTCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(94): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00544.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02071.hp2 HG02109.hp1 HG02258.hp2 HG02273.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04228.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp2 NA18957.hp1 NA18963.hp2 NA18970.hp1 NA18971.hp1 NA18979.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19064.hp2 NA19066.hp1 NA19079.hp2 NA19085.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0003t0001 a0001c0006t0003	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0016 others(94): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0052 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0157 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0227 a0001c0001t0002g0012 a0001c0001t0002g0022 a0001c0001t0002g0048 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0096 a0001c0001t0002g0114 a0001c0001t0002g0207 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0015 a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0046 a0001c0001t0003g0063 a0001c0001t0003g0070 a0001c0001t0003g0091 a0001c0001t0003g0129 a0001c0001t0003g0143 a0001c0001t0003g0196 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0234 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0247 a0001c0001t0004g0008 a0001c0001t0004g0103 a0001c0002t0001g0092 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0002g0020 a0001c0002t0002g0116 a0001c0002t0002g0118 a0001c0002t0002g0124 a0001c0002t0002g0142 a0001c0002t0002g0181 a0001c0002t0005g0078 a0001c0002t0005g0093 a0001c0002t0005g0094 a0001c0003t0001g0095 a0001c0003t0001g0193 a0001c0006t0003g0203	97	248	0.3911	-46	c.260 others(65): Show c.260-29814_260-29769delTGAGCTTTCTGGAGTGTGGTGAACGA GCTTTCTGGATTGTGGTGAA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3299322	CTGTCCTG others(39): Show CTGTCCTGGCCCCTTGTCCTGCAGTGCTCGGCCCTGGGTCAGCTCAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp2 HG01192.hp1 others(12): Show HG00140.hp2 HG01074.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01496.hp1 HG02886.hp1 HG03516.hp2 HG03704.hp2 NA18945.hp1 NA18952.hp2 NA18971.hp1 NA18995.hp1 NA19004.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0030 a0001c0001t0001g0079 a0001c0001t0001g0080 others(12): Show a0001c0001t0001g0030 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0219 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085	15	248	0.0605	-46	c.259 others(65): Show c.259+38649_259+38694delATGAGCTGACCCAGGGCCGAGCACTG CAGGACAAGGGGCCAGGACA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3304859	CTGCCATC others(39): Show CTGCCATCCAGTTCAGCCCTCCATTCCCGTCCAGTTCAACCCTCCAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(87): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00544.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02071.hp2 HG02109.hp1 HG02258.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03098.hp2 HG03225.hp2 HG03453.hp2 HG03492.hp1 HG03516.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04228.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp2 NA18957.hp1 NA18963.hp2 NA18970.hp1 NA18971.hp1 NA18979.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19064.hp2 NA19066.hp1 NA19079.hp2 NA19085.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0003t0001 a0001c0006t0003	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0017 others(87): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0052 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0157 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0227 a0001c0001t0002g0012 a0001c0001t0002g0022 a0001c0001t0002g0048 a0001c0001t0002g0069 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0096 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0207 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0015 a0001c0001t0003g0028 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0046 a0001c0001t0003g0063 a0001c0001t0003g0070 a0001c0001t0003g0091 a0001c0001t0003g0129 a0001c0001t0003g0143 a0001c0001t0003g0196 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0247 a0001c0001t0004g0008 a0001c0001t0004g0103 a0001c0002t0001g0092 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0002g0020 a0001c0002t0002g0116 a0001c0002t0002g0118 a0001c0002t0002g0124 a0001c0002t0002g0181 a0001c0002t0005g0078 a0001c0002t0005g0093 a0001c0002t0005g0094 a0001c0003t0001g0095 a0001c0003t0001g0193 a0001c0006t0003g0203	90	248	0.3629	-46	c.259 others(65): Show c.259+33112_259+33157delTTGGAGGGTTGAACTGGACGGGAATG GAGGGCTGAACTGGATGGCA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELL2_chr5_95880098_95966851	95927474	CATACACA others(39): Show CATACACACACGTGTGTATATAGACATACACACACGTGTGTATATAG	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01975.hp2 HG01496.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0154 a0001c0001t0003g0188 a0001c0001t0003g0154 a0001c0001t0003g0188	2	253	0.0079	-46	c.196 others(63): Show c.196-7975_196-7930delCTATATACACACGTGTGTGTATGTCTAT ATACACACGTGTGTGTAT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927478	CACACACG others(39): Show CACACACGTGTGTATATAGACATACACACACGTGTGTATATAGACAT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01928.hp2 HG01978.hp1 others(18): Show HG00544.hp1 HG01928.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02080.hp1 HG03491.hp1 HG04115.hp2 HG04184.hp1 NA18944.hp1 NA18953.hp1 NA18954.hp2 NA18964.hp1 NA18982.hp2 NA18983.hp2 NA19066.hp1 NA19068.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0023 a0001c0001t0002 a0001c0001t0003 a0001c0001t0023	a0001c0001t0002g0215 a0001c0001t0003g0002 a0001c0001t0003g0009 others(15): Show a0001c0001t0002g0215 a0001c0001t0003g0002 a0001c0001t0003g0009 a0001c0001t0003g0160 a0001c0001t0003g0165 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0204 a0001c0001t0003g0208 a0001c0001t0003g0210 a0001c0001t0023g0168	21	286	0.0734	-46	c.196 others(63): Show c.196-7979_196-7934delATGTCTATATACACACGTGTGTGTATGT CTATATACACACGTGTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
EMC10_chr19_50471507_50495871	50493179	GGGCGAGA others(39): Show GGGCGAGAGAGACAGAGGAAGGGGGTCACAGAGGAGAGGTAGAAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	350	0.0029	-46	c.10 others(59): Show c.10921_*10966delGGCGAGAGAGACAGAGGAAGGGGGTCACAGAG GAGAGGTAGAAGGA	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		2309		chr19	TogoVar
EML5_chr14_88607431_88797953	88796434	ATTATATA others(39): Show ATTATATATATTTTATATATATATTATGTTTATATATTATATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 NA18980.hp2 HG02040.hp1 NA18980.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0016 a0004c0007t0016	a0004c0007t0016g0007 a0004c0007t0016g0008 a0004c0007t0016g0007 a0004c0007t0016g0008	2	330	0.0061	-46	c.-39 others(57): Show c.-3977_-3932delAATATATATAATATATAAACATAATATATATATA AAATATATATAA	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3482		chr14	TogoVar
ENOSF1_chr18_665318_717630	667429	GAGATGGT others(39): Show GAGATGGTGATGGTGATGGTGATGGTGATGATGGAGATGGTGATGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0064 a0001c0001t0011g0064	1	413	0.0024	-46	c.68 others(57): Show c.6830_*6875delACCATCACCATCTCCATCATCACCATCACCATCA CCATCACCATCT	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2888		chr18	TogoVar
ENOSF1_chr18_665318_717630	667435	GTGATGGT others(39): Show GTGATGGTGATGGTGATGGTGATGATGGAGATGGTGATGGTGATGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0047 a0001c0001t0011g0047	1	414	0.0024	-46	c.68 others(57): Show c.6824_*6869delACCATCACCATCACCATCTCCATCATCACCATCA CCATCACCATCA	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2882		chr18	TogoVar
ENPP6_chr4_184083706_184222873	184220434	GGAAAGGG others(39): Show GGAAAGGGAGGGATGGGAAGAAGGGAAAGGGAGGGAAGGGAAGAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0071 a0001c0003t0003g0071	1	318	0.0031	-46	c.-26 others(57): Show c.-2661_-2616delTCTTCTTCCCTTCCCTCCCTTTCCCTTCTTCCCA TCCCTCCCTTTC	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding		2562		chr4	TogoVar
ENTR1_chr9_136396922_136415614	136403370	GGGGGAGA others(39): Show GGGGGAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01123.hp2 HG01361.hp1 others(11): Show HG01081.hp1 HG01123.hp2 HG01361.hp1 HG01433.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01993.hp2 HG02074.hp1 HG02273.hp1 HG02300.hp1 HG02895.hp1 HG03239.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0003c0007 a0004c0009 a0004c0023 a0006c0010	a0001c0001t0001 a0001c0002t0015 a0002c0003t0002 others(4): Show a0001c0001t0001 a0001c0002t0015 a0002c0003t0002 a0003c0007t0002 a0004c0009t0006 a0004c0023t0006 a0006c0010t0002	a0001c0001t0001g0040 a0001c0002t0015g0064 a0002c0003t0002g0003 others(5): Show a0001c0001t0001g0040 a0001c0002t0015g0064 a0002c0003t0002g0003 a0002c0003t0002g0160 a0003c0007t0002g0019 a0004c0009t0006g0018 a0004c0023t0006g0065 a0006c0010t0002g0044	14	410	0.0341	-46	c.120 others(63): Show c.1209-529_1209-484delGGCAAACCCCACCCCTTGCTCCCTGGGA CCCTGTCCCTTTCTCCCC	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
EPCAM_chr2_47364311_47392020	47365490	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0012	1	448	0.0022	-46	c.-40 others(57): Show c.-4015_-3970delTATATATATATATATATATATATATATATATATA TATATATATATT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		3820		chr2	TogoVar
EPHA2_chr1_16119337_16161069	16136666	GAAGAAAA others(39): Show GAAGAAAAGAAGAAGAAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03654.hp2 HG02922.hp1 HG03654.hp2	a0001 a0001	a0001c0004 a0001c0010 a0001c0004 a0001c0010	a0001c0004t0002 a0001c0010t0001 a0001c0004t0002 a0001c0010t0001	a0001c0004t0002g0108 a0001c0010t0001g0163 a0001c0004t0002g0108 a0001c0010t0001g0163	2	302	0.0066	-46	c.131 others(63): Show c.1313-942_1313-897delTCTTCTTCTTCTTCTTCTTCCTCTTCTT CTTTCTTCTTCTTTTCTT	EPHA2	ENSG00000142627.13	transcript	ENST00000358432.8	protein_coding	5/16			chr1	TogoVar
EPHA6_chr3_96809594_97766532	97363171	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG01175.hp1 others(21): Show HG00642.hp1 HG00735.hp1 HG01175.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02809.hp1 HG02922.hp2 HG03041.hp2 HG03139.hp2 HG03225.hp1 HG03540.hp1 HG03579.hp1 NA18906.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0014 a0001c0001t0028 a0001c0002t0001 a0001c0002t0007 a0001c0002t0019 a0001c0002t0026 a0001c0003t0003 a0001c0003t0004 a0001c0003t0011 a0001c0003t0018 a0001c0004t0002 a0001c0005t0004 a0001c0009t0007	a0001c0001t0001g0024 a0001c0001t0004g0015 a0001c0001t0004g0070 others(21): Show a0001c0001t0001g0024 a0001c0001t0004g0015 a0001c0001t0004g0070 a0001c0001t0005g0016 a0001c0001t0005g0018 a0001c0001t0009g0019 a0001c0001t0009g0079 a0001c0001t0014g0045 a0001c0001t0028g0013 a0001c0002t0001g0009 a0001c0002t0007g0034 a0001c0002t0019g0008 a0001c0002t0026g0032 a0001c0003t0003g0012 a0001c0003t0004g0004 a0001c0003t0004g0010 a0001c0003t0011g0003 a0001c0003t0011g0011 a0001c0003t0018g0020 a0001c0004t0002g0026 a0001c0004t0002g0027 a0001c0005t0004g0046 a0001c0005t0004g0048 a0001c0009t0007g0017	24	27	0.8889	-46	c.160 others(67): Show c.1607-41957_1607-41912delTATATATATATATATATATATATA TATATATATATATATATATATA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
ERBB4_chr2_211370717_212543802	212446578	CATATATA others(39): Show CATATATATATATGTATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0035 a0001c0001t0005g0035	1	18	0.0556	-46	c.82+ others(63): Show c.82+91825_82+91870delATATATATATATATATATATATATATAT ATATACATATATATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERFL_chr19_41902704_41933449	41914806	TCCCCCTC others(39): Show TCCCCCTCCACCGTGTCTCCCCCCCTTTCCACCGTCTCTGTCTCTCC	T T	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0162 a0001c0002t0002g0162	1	322	0.0031	-46	c.-13 others(63): Show c.-13-1920_-13-1875delGGAGAGACAGAGACGGTGGAAAGGGGGG GAGACACGGTGGAGGGGG	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERICH1_chr8_659200_736224	659619	GTGACCAT others(39): Show GTGACCATCGAGATCTCCGGTGTGCACTGAGCATCCTGGGGAGGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01975.hp1 HG01981.hp1 others(16): Show HG00609.hp1 HG01975.hp1 HG01981.hp1 HG02818.hp1 HG02886.hp1 HG03098.hp2 HG04204.hp2 NA18942.hp2 NA18945.hp1 NA18955.hp1 NA18964.hp2 NA18982.hp2 NA18983.hp2 NA18992.hp2 NA19030.hp2 NA19060.hp2 NA19068.hp1 NA19080.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0030 others(16): Show a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0071 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0180 a0001c0001t0001g0193 a0001c0001t0001g0202 a0001c0001t0001g0241 a0001c0003t0001g0223	19	375	0.0507	-46	c.49 others(57): Show c.4938_*4983delTCCCCTCCCCAGGATGCTCAGTGCACACCGGAGA TCTCGATGGTCA	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		4580		chr8	TogoVar
ERICH1_chr8_659200_736224	659834	CATCCTGG others(39): Show CATCCTGGGGAGGGGGTGACCATCGAGATCTCCAGTGTGCACTGAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	376	0.0027	-46	c.47 others(57): Show c.4723_*4768delATTCAGTGCACACTGGAGATCTCGATGGTCACCC CCTCCCCAGGAT	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		4365		chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073432	CTATATAT others(39): Show CTATATATATATATATATATATATATATGTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02698.hp1 HG02809.hp2 others(2): Show HG01943.hp2 HG02698.hp1 HG02809.hp2 HG03139.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0096 a0001c0001t0001g0256 a0001c0001t0001g0360 others(2): Show a0001c0001t0001g0096 a0001c0001t0001g0256 a0001c0001t0001g0360 a0001c0001t0002g0040 a0001c0001t0002g0077	5	336	0.0149	-46	c.58+ others(61): Show c.58+8713_58+8758delATATATATATATATATATATGTATATATAT ATATATATATATATAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar

Search by Variant

Search

Search Results