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
CDH9_chr5_26875597_27043586	26954388	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0222 a0002c0002t0001g0222	1	5	0.2000	41	c.228 others(60): Show c.228+33717_228+33718insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	CDH9	ENSG00000113100.10	transcript	ENST00000231021.9	protein_coding	2/11			chr5	TogoVar
CDIN1_chr15_36574626_36815244	36703219	A A	AATATATA others(34): Show AATATATATATATATATATATATATATCAGATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02895.hp1 HG02717.hp1 HG02895.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0007 a0001c0001t0001 a0002c0002t0007	a0001c0001t0001g0115 a0002c0002t0007g0100 a0001c0001t0001g0115 a0002c0002t0007g0100	2	68	0.0294	41	c.544 others(58): Show c.544+5843_544+5844insATATATATATATCAGATATATATATATA TATATATATATAT	CDIN1	ENSG00000186073.14	transcript	ENST00000566621.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
CDK15_chr2_201801537_201900550	201857232	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0271	1	146	0.0068	41	c.100 others(60): Show c.1009+2311_1009+2312insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	CDK15	ENSG00000138395.17	transcript	ENST00000652192.3	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
CDK2AP1_chr12_123255976_123276856	123274888	G G	GAAAGAAA others(34): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	58	0.0172	41	c.-32 others(52): Show c.-3271_-3270insTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTT	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding		3033		chr12	TogoVar
CDKL1_chr14_50321265_50401881	50362590	G G	GTCTAGCT others(34): Show GTCTAGCTCAGGGTTTGTGAATGCACCAATCGACACTCTGTA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02083.hp2 NA18964.hp2 others(3): Show HG02027.hp1 HG02083.hp2 NA18964.hp2 NA18997.hp1 NA19072.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0027 others(3): Show a0001c0001t0002 a0001c0001t0018 a0001c0001t0027 a0001c0001t0033 a0001c0001t0105 a0001c0001t0117	a0001c0001t0002g0215 a0001c0001t0018g0010 a0001c0001t0027g0247 others(3): Show a0001c0001t0002g0215 a0001c0001t0018g0010 a0001c0001t0027g0247 a0001c0001t0033g0095 a0001c0001t0105g0169 a0001c0001t0117g0213	6	304	0.0197	41	c.169 others(58): Show c.169-3482_169-3442dupTACAGAGTGTCGATTGGTGCATTCACAA ACCCTGAGCTAGA	CDKL1	ENSG00000100490.10	transcript	ENST00000395834.6	protein_coding	2/9			chr14	TogoVar
CDKN2A_chr9_21962752_21979857	21971575	A A	ATTTTTTT others(34): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0089 a0001c0001t0005g0089	1	67	0.0149	41	c.151 others(56): Show c.151-368_151-367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000304494.10	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21971575	A A	ATTTTTTT others(34): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0319 a0001c0001t0005g0319	1	62	0.0161	41	c.194 others(56): Show c.194-368_194-367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDYL2_chr16_80592907_80809598	80759108	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATGGTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0233 a0001c0001t0004g0233	1	256	0.0039	41	c.24+ others(58): Show c.24+45041_24+45042insAACCATATATATATATATATATATATAT ATATATATATATA	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6			chr16	TogoVar
CEACAM19_chr19_44666482_44689355	44667663	A A	AATATAAA others(34): Show AATATAAATATATATTATATATATAAATATATAATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02970.hp1 NA19030.hp2 HG01109.hp1 HG02970.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0048 a0001c0001t0006g0030 a0001c0001t0004g0048 a0001c0001t0006g0030	3	388	0.0077	41	c.-42 others(52): Show c.-4269_-4268insATATAAATATATATTATATATATAAATATATAAT ATATATT	CEACAM19	ENSG00000186567.14	transcript	ENST00000358777.10	protein_coding		3818		chr19	TogoVar
CELF5_chr19_3219661_3302076	3220385	C C	CCCAACTT others(34): Show CCCAACTTTTTGTAATTTCAGTAGGGATGGGGTTTTGCCATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0067	1	260	0.0038	41	c.-43 others(52): Show c.-4355_-4354insCCAACTTTTTGTAATTTCAGTAGGGATGGGGTTT TGCCATG	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding		4275		chr19	TogoVar
CELF5_chr19_3219661_3302076	3299553	C C	CTTCTTCT others(34): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01346.hp2 NA18995.hp2 HG00597.hp2 HG01346.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0006 a0001c0002t0010 a0001c0001t0004 a0001c0001t0006 a0001c0002t0010	a0001c0001t0004g0155 a0001c0001t0006g0096 a0001c0002t0010g0050 a0001c0001t0004g0155 a0001c0001t0006g0096 a0001c0002t0010g0050	3	229	0.0131	41	c.28 others(52): Show c.2836_*2837insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding		2478		chr19	TogoVar
CELF5_chr19_3219661_3302076	3299556	C C	CTTCTTCT others(34): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0249 a0001c0001t0005g0249	1	257	0.0039	41	c.28 others(52): Show c.2839_*2840insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding		2481		chr19	TogoVar
CENPM_chr22_41933737_41952152	41934246	G G	GATTGAGG others(34): Show GATTGAGGCCAGGACACTCGGGCCTGGACCACTGGCCATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0182	1	256	0.0039	41	c.48 others(52): Show c.4809_*4810insTCCATGGCCAGTGGTCCAGGCCCGAGTGTCCTGG CCTCAAT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding		4490		chr22	TogoVar
CENPP_chr9_92320953_92625529	92602847	T T	TTGGAGAC others(34): Show TTGGAGACAAGAGTCTTGCTCTGTTGCCAGGCTGGAGTGCAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01168.hp1 HG01169.hp2 others(20): Show HG00280.hp1 HG01168.hp1 HG01169.hp2 HG01346.hp2 HG02015.hp2 HG02083.hp1 HG02109.hp2 HG02165.hp1 HG02486.hp1 HG02698.hp2 HG03710.hp2 HG03831.hp2 HG03942.hp2 HG04115.hp1 NA18951.hp2 NA18963.hp2 NA18973.hp1 NA18980.hp2 NA18984.hp1 NA18993.hp2 NA18995.hp1 NA19001.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0016 a0001c0001t0028 others(2): Show a0001c0001t0005 a0001c0001t0016 a0001c0001t0028 a0001c0001t0046 a0001c0001t0047	a0001c0001t0005g0008 a0001c0001t0005g0016 a0001c0001t0005g0017 others(20): Show a0001c0001t0005g0008 a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0016g0083 a0001c0001t0016g0244 a0001c0001t0028g0178 a0001c0001t0046g0259 a0001c0001t0047g0030	23	260	0.0885	41	c.565 others(58): Show c.565-8464_565-8463insAGACAAGAGTCTTGCTCTGTTGCCAGGC TGGAGTGCAATGG	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEP126_chr11_101910010_102006062	101938159	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	149	0.0067	41	c.249 others(58): Show c.249-6089_249-6088insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP128_chr14_80491479_80946738	80678049	A A	AAAAAAAT others(34): Show AAAAAAATATATATATATATATATATGTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0004 a0010c0020t0004	a0010c0020t0004g0163 a0010c0020t0004g0163	1	58	0.0172	41	c.280 others(62): Show c.2806+65025_2806+65026insATATATATATATATACATATATAT ATATATATATATTTTTT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP170B_chr14_104860268_104901747	104890719	T T	TGGGTGGG others(34): Show TGGGTGGGTGAATGGATGGATGGATGGATGGATGGATGAGTG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0056 a0001c0010t0002g0056	1	164	0.0061	41	c.387 others(58): Show c.3878+963_3878+964insGTGGGTGAATGGATGGATGGATGGATGG ATGGATGAGTGGG	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CEP170B_chr14_104860268_104901747	104890719	T T	TGGGTGGG others(34): Show TGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGAGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(124): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18940.hp2 NA18948.hp2 NA18975.hp2 NA18982.hp2 NA18995.hp2 NA19002.hp2 NA19043.hp1 NA19058.hp2 NA19074.hp2 NA19083.hp1 NA19089.hp1 NA19089.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0006 a0010 a0012 a0015 a0016 a0022 a0029 a0032	a0001c0002 a0001c0003 a0001c0006 others(35): Show a0001c0002 a0001c0003 a0001c0006 a0001c0010 a0001c0013 a0001c0017 a0001c0019 a0001c0020 a0001c0032 a0001c0037 a0001c0038 a0001c0069 a0001c0073 a0001c0075 a0001c0080 a0001c0082 a0001c0083 a0001c0087 a0001c0088 a0002c0004 a0002c0009 a0002c0012 a0002c0028 a0002c0029 a0002c0060 a0002c0064 a0003c0026 a0003c0067 a0003c0078 a0006c0030 a0010c0063 a0010c0086 a0012c0036 a0015c0089 a0016c0084 a0022c0068 a0029c0033 a0032c0072	a0001c0002t0002 a0001c0003t0002 a0001c0003t0021 others(39): Show a0001c0002t0002 a0001c0003t0002 a0001c0003t0021 a0001c0003t0022 a0001c0006t0005 a0001c0006t0007 a0001c0010t0002 a0001c0013t0002 a0001c0017t0002 a0001c0019t0002 a0001c0020t0002 a0001c0032t0024 a0001c0037t0005 a0001c0038t0005 a0001c0069t0002 a0001c0073t0002 a0001c0075t0002 a0001c0080t0018 a0001c0082t0002 a0001c0083t0002 a0001c0087t0002 a0001c0088t0002 a0002c0004t0002 a0002c0009t0002 a0002c0009t0012 a0002c0012t0002 a0002c0028t0002 a0002c0029t0002 a0002c0060t0002 a0002c0064t0002 a0003c0026t0002 a0003c0067t0002 a0003c0078t0002 a0006c0030t0002 a0010c0063t0002 a0010c0086t0002 a0012c0036t0007 a0015c0089t0002 a0016c0084t0002 a0022c0068t0020 a0029c0033t0009 a0032c0072t0002	a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0032 others(104): Show a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0172 a0001c0002t0002g0174 a0001c0002t0002g0182 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0191 a0001c0002t0002g0205 a0001c0002t0002g0210 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0003t0002g0003 a0001c0003t0002g0178 a0001c0003t0002g0179 a0001c0003t0002g0180 a0001c0003t0002g0181 a0001c0003t0002g0183 a0001c0003t0002g0186 a0001c0003t0002g0188 a0001c0003t0002g0190 a0001c0003t0002g0207 a0001c0003t0002g0208 a0001c0003t0002g0211 a0001c0003t0002g0218 a0001c0003t0002g0222 a0001c0003t0002g0226 a0001c0003t0002g0227 a0001c0003t0002g0228 a0001c0003t0002g0229 a0001c0003t0021g0231 a0001c0003t0022g0187 a0001c0006t0005g0028 a0001c0006t0005g0043 a0001c0006t0005g0076 a0001c0006t0005g0146 a0001c0006t0005g0147 a0001c0006t0005g0256 a0001c0006t0007g0029 a0001c0010t0002g0010 a0001c0010t0002g0058 a0001c0010t0002g0059 a0001c0010t0002g0060 a0001c0013t0002g0010 a0001c0013t0002g0044 a0001c0017t0002g0162 a0001c0019t0002g0159 a0001c0019t0002g0160 a0001c0019t0002g0164 a0001c0020t0002g0031 a0001c0020t0002g0152 a0001c0020t0002g0156 a0001c0032t0024g0167 a0001c0037t0005g0149 a0001c0038t0005g0168 a0001c0069t0002g0031 a0001c0073t0002g0155 a0001c0075t0002g0154 a0001c0080t0018g0080 a0001c0082t0002g0033 a0001c0083t0002g0212 a0001c0087t0002g0195 a0001c0088t0002g0224 a0002c0004t0002g0002 a0002c0004t0002g0035 a0002c0004t0002g0036 a0002c0004t0002g0171 a0002c0004t0002g0173 a0002c0004t0002g0189 a0002c0004t0002g0194 a0002c0004t0002g0198 a0002c0004t0002g0202 a0002c0004t0002g0203 a0002c0004t0002g0213 a0002c0009t0002g0009 a0002c0009t0002g0193 a0002c0009t0002g0201 a0002c0009t0002g0219 a0002c0009t0012g0175 a0002c0012t0002g0002 a0002c0012t0002g0197 a0002c0012t0002g0214 a0002c0028t0002g0192 a0002c0028t0002g0204 a0002c0029t0002g0037 a0002c0060t0002g0177 a0002c0064t0002g0163 a0003c0026t0002g0030 a0003c0026t0002g0237 a0003c0067t0002g0030 a0003c0078t0002g0236 a0006c0030t0002g0176 a0006c0030t0002g0196 a0010c0063t0002g0161 a0010c0086t0002g0206 a0012c0036t0007g0151 a0015c0089t0002g0009 a0016c0084t0002g0223 a0022c0068t0020g0082 a0029c0033t0009g0028 a0032c0072t0002g0157	127	290	0.4379	41	c.387 others(58): Show c.3878+963_3878+964insGTGGGTGGATGGATGGATGGATGGATGG ATGGATGAGTGGG	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CEP170B_chr14_104860268_104901747	104890719	T T	TGGGTGGG others(34): Show TGGGTGGGTGGATGGATGGGTGGATGGATGGATGGATGAGTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0165 a0001c0017t0002g0166 a0001c0017t0002g0165 a0001c0017t0002g0166	2	165	0.0121	41	c.387 others(58): Show c.3878+963_3878+964insGTGGGTGGATGGATGGGTGGATGGATGG ATGGATGAGTGGG	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CEP250_chr20_35450598_35524280	35471748	A A	AATGCCAA others(34): Show AATGCCAAATCTACAGATAGGTAAGTTTTTCCTTGATTTCAC	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0208 a0001c0001t0031g0208	1	258	0.0039	41	c.949 others(56): Show c.949-302_949-301insATGCCAAATCTACAGATAGGTAAGTTTTTC CTTGATTTCAC	CEP250	ENSG00000126001.17	transcript	ENST00000397527.6	protein_coding	10/34			chr20	TogoVar
CEP57L1_chr6_109090507_109179418	109125525	T T	TACATATA others(34): Show TACATATATATATATATATATATACACATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0221 a0001c0001t0026g0221	1	219	0.0046	41	c.-3- others(58): Show c.-3-19694_-3-19693insACATATATATATATATATATATACACAT ATATATATATATA	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding	1/10			chr6	TogoVar
CEP72_chr5_607340_658553	649886	G G	GTGACTGT others(34): Show GTGACTGTGAGGTGTGGACTGTGAGGTGTGACTGTGAGGTGT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01981.hp2 NA18942.hp1 HG01069.hp2 HG01981.hp2 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0071 a0002c0002t0001g0081 a0002c0002t0001g0082	3	84	0.0357	41	c.177 others(60): Show c.1778+1970_1778+1971insTGACTGTGAGGTGTGGACTGTGAGGT GTGACTGTGAGGTGT	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11			chr5	TogoVar
CEP72_chr5_607340_658553	650059	T T	TGGACTGT others(34): Show TGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01257.hp2 HG01517.hp1 others(3): Show HG01255.hp1 HG01257.hp2 HG01517.hp1 HG02015.hp1 NA18948.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0006t0001g0015 a0001c0006t0001g0027	6	87	0.0690	41	c.177 others(60): Show c.1778+2144_1778+2145insGACTGTGAGGTGTGACTGTGAGGTGT GACTGTGAGGCGTGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	651298	T T	TGGACTGT others(34): Show TGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0015 a0001c0006t0001g0015	1	87	0.0115	41	c.177 others(60): Show c.1779-1689_1779-1688insGACTGTGAGGTGTGACTGTGAGGTGT GACTGTGAGGCGTGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CERS4_chr19_8204370_8267421	8231851	A A	ATTTTTTT others(34): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0089 a0001c0001t0003g0089	1	40	0.0250	41	c.-1- others(58): Show c.-1-19203_-1-19202insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS4_chr19_8204370_8267421	8267294	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0318 a0001c0001t0002g0318	1	108	0.0093	41	c.51 others(52): Show c.5185_*5186insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding		4874		chr19	TogoVar
CERS5_chr12_50124289_50172369	50156438	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0039 a0002c0003t0003g0039	1	316	0.0032	41	c.197 others(60): Show c.197+10662_197+10663insATATATATATATATATATATATATAT ATATATATATATATA	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERT1_chr5_75372775_75516629	75393602	T T	TAAAAAAA others(34): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	9	0.1111	41	c.118 others(60): Show c.1189-3916_1189-3915insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	11/16			chr5	TogoVar
CES5A_chr16_55841154_55880373	55854531	C C	CTTTCTGT others(34): Show CTTTCTGTTTTCTTTCTTTTTTTTTTTCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02258.hp1 others(1): Show HG01891.hp1 HG02145.hp1 HG02258.hp1 HG02717.hp1	a0014 a0018 a0024 a0014 a0018 a0024	a0014c0039 a0018c0023 a0024c0057 a0014c0039 a0018c0023 a0024c0057	a0014c0039t0002 a0018c0023t0002 a0024c0057t0003 a0014c0039t0002 a0018c0023t0002 a0024c0057t0003	a0014c0039t0002g0286 a0018c0023t0002g0218 a0018c0023t0002g0303 others(1): Show a0014c0039t0002g0286 a0018c0023t0002g0218 a0018c0023t0002g0303 a0024c0057t0003g0135	4	279	0.0143	41	c.112 others(60): Show c.1126-1504_1126-1503insAAAAAAAAAAAAAAGAAAAAAAAAAA GAAAGAAAACAGAAA	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	9/12			chr16	TogoVar
CES5A_chr16_55841154_55880373	55854531	C C	CTTTCTGT others(34): Show CTTTCTGTTTTCTTTCTTTTTTTTTTTTCTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02015.hp1 HG02027.hp1 others(17): Show HG01106.hp2 HG02015.hp1 HG02027.hp1 HG02071.hp1 HG02083.hp2 HG02155.hp2 HG02698.hp2 HG03704.hp2 HG04228.hp2 NA18952.hp1 NA18962.hp2 NA18971.hp2 NA18973.hp2 NA18983.hp2 NA18998.hp1 NA19003.hp2 NA19063.hp1 NA19065.hp1 NA19083.hp1 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0016 a0017	a0001c0001 a0001c0002 a0001c0072 others(5): Show a0001c0001 a0001c0002 a0001c0072 a0002c0003 a0003c0004 a0016c0016 a0017c0027 a0017c0055	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0072t0002 a0002c0003t0002 a0003c0004t0006 a0016c0016t0002 a0017c0027t0002 a0017c0055t0005	a0001c0001t0001g0270 a0001c0001t0003g0067 a0001c0002t0002g0027 others(16): Show a0001c0001t0001g0270 a0001c0001t0003g0067 a0001c0002t0002g0027 a0001c0002t0002g0328 a0001c0002t0002g0344 a0001c0002t0002g0376 a0001c0002t0004g0116 a0001c0002t0006g0146 a0001c0002t0006g0166 a0001c0002t0006g0192 a0001c0072t0002g0327 a0002c0003t0002g0206 a0002c0003t0002g0208 a0002c0003t0002g0253 a0003c0004t0006g0173 a0016c0016t0002g0221 a0016c0016t0002g0242 a0017c0027t0002g0374 a0017c0055t0005g0145	20	295	0.0678	41	c.112 others(60): Show c.1126-1504_1126-1503insAAAAAAAAAAAAAGAAAAAAAAAAAA GAAAGAAAACAGAAA	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	9/12			chr16	TogoVar
CFAP298_chr21_32594354_32617377	32611339	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0201 a0001c0001t0003g0201	1	345	0.0029	41	c.139 others(56): Show c.139+765_139+766insATATATATATATATATATATATATATATAT ATATATATATA	CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	1/6			chr21	TogoVar
CFAP410_chr21_44323944_44344390	44334492	C C	CCTCAACC others(34): Show CCTCAACCTCTGGGCGGGCACGCGCACCCCCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	430	0.0023	41	c.144 others(58): Show c.144-1231_144-1230insCGGGGGGGGGGGGGGGTGCGCGTGCCCG CCCAGAGGTTGAG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6			chr21	TogoVar
CFAP410_chr21_44323944_44344390	44334517	A A	ACCCCCCC others(34): Show ACCCCCCCCCCCCCGCTCAACCTCTGGGCGGGCACGCGCACC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0294 a0001c0002t0002g0294	1	182	0.0055	41	c.143 others(58): Show c.143+1240_143+1241insGGTGCGCGTGCCCGCCCAGAGGTTGAGC GGGGGGGGGGGGG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6			chr21	TogoVar
CFAP46_chr10_132803392_132947570	132888435	G G	GCACCTGC others(34): Show GCACCTGCCACCTTCACCCCTGCCGCCTGCACCTGCCACCTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG03669.hp2 NA19004.hp2 HG00544.hp2 HG03669.hp2 NA19004.hp2	a0009 a0019 a0009 a0019	a0009c0021 a0019c0027 a0009c0021 a0019c0027	a0009c0021t0001 a0019c0027t0002 a0009c0021t0001 a0019c0027t0002	a0009c0021t0001g0243 a0019c0027t0002g0026 a0019c0027t0002g0078 a0009c0021t0001g0243 a0019c0027t0002g0026 a0019c0027t0002g0078	3	225	0.0133	41	c.330 others(60): Show c.3305-2477_3305-2476insAAGGTGGCAGGTGCAGGCGGCAGGGG TGAAGGTGGCAGGTG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132888579	G G	GCACCTGC others(34): Show GCACCTGCCACCTTCACCCCTGCCGCCTGCACCTGCCACCTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0009 a0009	a0009c0021 a0009c0021	a0009c0021t0001 a0009c0021t0001	a0009c0021t0001g0243 a0009c0021t0001g0243	1	204	0.0049	41	c.330 others(60): Show c.3305-2621_3305-2620insAAGGTGGCAGGTGCAGGCGGCAGGGG TGAAGGTGGCAGGTG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132888583	C C	CTGCCACC others(34): Show CTGCCACCTGCACCCCTGCCGCCTGCACCCCTGCCGCCTGCA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01978.hp2 NA18953.hp2 HG01261.hp2 HG01978.hp2 NA18953.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0003 a0003c0080 a0002c0002 a0002c0003 a0003c0080	a0002c0002t0001 a0002c0003t0001 a0003c0080t0002 a0002c0002t0001 a0002c0003t0001 a0003c0080t0002	a0002c0002t0001g0160 a0002c0003t0001g0184 a0003c0080t0002g0075 a0002c0002t0001g0160 a0002c0003t0001g0184 a0003c0080t0002g0075	3	244	0.0123	41	c.330 others(60): Show c.3305-2625_3305-2624insTGCAGGCGGCAGGGGTGCAGGCGGCA GGGGTGCAGGTGGCA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132888598	C C	CTGCCGCC others(34): Show CTGCCGCCTTCACCCCTGCCGCCTGCACCCCTGCCGCCTGCA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0033 a0033	a0033c0074 a0033c0074	a0033c0074t0002 a0033c0074t0002	a0033c0074t0002g0006 a0033c0074t0002g0006	1	242	0.0041	41	c.330 others(60): Show c.3305-2640_3305-2639insTGCAGGCGGCAGGGGTGCAGGCGGCA GGGGTGAAGGCGGCA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132888613	C C	CTGCCACC others(34): Show CTGCCACCTTCACCCCTGCCACCTTCACCCCTGCCGCCTGCA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02040.hp1 NA19056.hp2 HG00597.hp2 HG02040.hp1 NA19056.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0161 a0002c0003t0001g0176 a0002c0003t0001g0188 a0002c0003t0001g0161 a0002c0003t0001g0176 a0002c0003t0001g0188	3	239	0.0126	41	c.330 others(60): Show c.3305-2655_3305-2654insTGCAGGCGGCAGGGGTGAAGGTGGCA GGGGTGAAGGTGGCA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132888742	C C	CCCTGCCG others(34): Show CCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGCA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0041 a0041	a0041c0077 a0041c0077	a0041c0077t0001 a0041c0077t0001	a0041c0077t0001g0127 a0041c0077t0001g0127	1	214	0.0047	41	c.330 others(60): Show c.3305-2784_3305-2783insTGCAGGCGGCAGGGGTGAAGGTGGCA GGTGCAGGCGGCAGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132895891	T T	TTCTGTGT others(34): Show TTCTGTGTGCCACATGAAGACATGGTGAGAAGGCAGCCAGGC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02280.hp1 others(7): Show HG01243.hp1 HG01891.hp2 HG02280.hp1 HG02572.hp1 HG02647.hp1 HG02886.hp2 HG03453.hp1 HG03486.hp1 NA18906.hp1 NA20300.hp2	a0016 a0022 a0026 others(3): Show a0016 a0022 a0026 a0047 a0049 a0064	a0016c0026 a0016c0094 a0022c0078 others(5): Show a0016c0026 a0016c0094 a0022c0078 a0022c0081 a0026c0016 a0047c0070 a0049c0082 a0064c0109	a0016c0026t0002 a0016c0094t0001 a0022c0078t0002 others(5): Show a0016c0026t0002 a0016c0094t0001 a0022c0078t0002 a0022c0081t0002 a0026c0016t0001 a0047c0070t0002 a0049c0082t0002 a0064c0109t0002	a0016c0026t0002g0097 a0016c0026t0002g0099 a0016c0094t0001g0118 others(7): Show a0016c0026t0002g0097 a0016c0026t0002g0099 a0016c0094t0001g0118 a0022c0078t0002g0031 a0022c0081t0002g0098 a0026c0016t0001g0145 a0026c0016t0001g0147 a0047c0070t0002g0008 a0049c0082t0002g0100 a0064c0109t0002g0104	10	230	0.0435	41	c.321 others(60): Show c.3219+3067_3219+3068insGCCTGGCTGCCTTCTCACCATGTCTT CATGTGGCACACAGA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	24/57			chr10	TogoVar
CFAP52_chr17_9571642_9648447	9631052	G G	GAGAGAGA others(34): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0093 a0002c0001t0001g0093	1	78	0.0128	41	c.117 others(60): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAAGAAAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP97D2_chr13_114174257_114228085	114199006	G G	GCTTACGG others(34): Show GCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01361.hp2 HG01993.hp1 others(11): Show HG00642.hp2 HG01361.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp2 HG02273.hp1 HG02273.hp2 HG03834.hp1 NA18954.hp1 NA18992.hp2 NA18999.hp2 NA19063.hp1 NA19074.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0013 a0001c0001t0006g0040 a0001c0001t0006g0330 others(8): Show a0001c0001t0006g0013 a0001c0001t0006g0040 a0001c0001t0006g0330 a0001c0001t0006g0331 a0001c0001t0006g0332 a0001c0001t0006g0333 a0001c0001t0006g0334 a0001c0001t0006g0335 a0001c0001t0006g0336 a0001c0001t0006g0337 a0001c0001t0006g0339	14	308	0.0455	41	c.172 others(58): Show c.172-1319_172-1318insCTTACGGTCCCCGCTGAGGGGTGACGGC GCGTCCCCGTGTT	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3			chr13	TogoVar
CFDP1_chr16_75288710_75438503	75349688	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0092 a0001c0002t0001g0092	1	28	0.0357	41	c.651 others(60): Show c.651-44507_651-44506insATATATATATATATATATATATATAT ATATATATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFLAR_chr2_201111164_201181687	201111596	C C	CAAAAAAT others(34): Show CAAAAAATTAGCTGGCGAGACTCCGTCTCAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0046	a0001c0002t0046g0047 a0001c0002t0046g0047	1	232	0.0043	41	c.-50 others(52): Show c.-5023_-5022insAAAAAATTAGCTGGCGAGACTCCGTCTCAAAAAA AAAAAAA	CFLAR	ENSG00000003402.21	transcript	ENST00000309955.8	protein_coding		4567		chr2	TogoVar
CGNL1_chr15_57371505_57555717	57433966	G G	GTTTTGCT others(34): Show GTTTTGCTCTTTTAGCTGTTCTTAGGTAGCTCGTCTGGTTTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01109.hp2 HG01496.hp1 others(27): Show HG00423.hp2 HG01109.hp2 HG01496.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02080.hp1 HG02273.hp1 HG02293.hp2 HG02683.hp1 HG02886.hp2 HG02965.hp2 HG02976.hp1 HG03209.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG03927.hp1 HG04199.hp1 HG04204.hp2 NA18951.hp2 NA18954.hp1 NA18977.hp2 NA18984.hp1 NA19004.hp2 NA19240.hp1 NA20300.hp1 NA20905.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0006 a0009 a0024 a0027	a0001c0001 a0001c0011 a0002c0002 others(5): Show a0001c0001 a0001c0011 a0002c0002 a0005c0006 a0006c0007 a0009c0037 a0024c0028 a0027c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0025 a0001c0011t0022 a0002c0002t0003 a0002c0002t0008 a0002c0002t0013 a0005c0006t0004 a0006c0007t0005 a0009c0037t0006 a0024c0028t0006 a0027c0024t0002	a0001c0001t0001g0087 a0001c0001t0001g0185 a0001c0001t0001g0199 others(27): Show a0001c0001t0001g0087 a0001c0001t0001g0185 a0001c0001t0001g0199 a0001c0001t0001g0267 a0001c0001t0002g0067 a0001c0001t0002g0149 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0225 a0001c0001t0002g0240 a0001c0001t0002g0244 a0001c0001t0004g0028 a0001c0001t0004g0124 a0001c0001t0010g0054 a0001c0001t0025g0233 a0001c0011t0022g0152 a0002c0002t0003g0183 a0002c0002t0003g0193 a0002c0002t0003g0194 a0002c0002t0003g0223 a0002c0002t0003g0224 a0002c0002t0008g0023 a0002c0002t0008g0030 a0002c0002t0013g0268 a0005c0006t0004g0198 a0006c0007t0005g0056 a0006c0007t0005g0125 a0009c0037t0006g0026 a0024c0028t0006g0066 a0027c0024t0002g0111	30	292	0.1027	41	c.-15 others(58): Show c.-15-4018_-15-4017insTTTGCTCTTTTAGCTGTTCTTAGGTAGC TCGTCTGGTTTCT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGREF1_chr2_27095594_27124128	27116923	C C	CTCTCTCT others(34): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0056 a0001c0002t0002g0056	1	195	0.0051	41	c.-12 others(58): Show c.-12+1922_-12+1923insAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116924	T T	TCTCTCTC others(34): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0015	a0001c0004t0015g0261 a0001c0004t0015g0261	1	313	0.0032	41	c.-12 others(58): Show c.-12+1921_-12+1922insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAG	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CHD5_chr1_6096787_6185321	6155112	A A	ACCCAGCT others(34): Show ACCCAGCTTCCTGTCCACACCCACAGCCCACCCCCAAAACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0227 a0001c0004t0011g0227	1	311	0.0032	41	c.507 others(56): Show c.507-255_507-215dupGTGTTTTGGGGGTGGGCTGTGGGTGTGGAC AGGAAGCTGGG	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	4/41			chr1	TogoVar
CHD5_chr1_6096787_6185321	6155152	A A	ACCCAGCT others(34): Show ACCCAGCTTCCTGTCCACACCCACAGCCCACCCCCAAAACAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02258.hp1 others(2): Show HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02965.hp1 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0025 a0001c0001 a0001c0008 a0002c0025	a0001c0001t0083 a0001c0008t0012 a0002c0025t0001 a0001c0001t0083 a0001c0008t0012 a0002c0025t0001	a0001c0001t0083g0308 a0001c0008t0012g0223 a0001c0008t0012g0224 others(2): Show a0001c0001t0083g0308 a0001c0008t0012g0223 a0001c0008t0012g0224 a0001c0008t0012g0297 a0002c0025t0001g0052	5	127	0.0394	41	c.507 others(56): Show c.507-295_507-255dupGTGTTTTGGGGGTGGGCTGTGGGTGTGGAC AGGAAGCTGGG	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	4/41			chr1	TogoVar
CHD5_chr1_6096787_6185321	6174895	A A	AGATGGTG others(34): Show AGATGGTGGGTGGGTGGATGGATGGATGGTGGATGAAGGATG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02809.hp2 HG02895.hp2 others(9): Show HG02559.hp1 HG02809.hp2 HG02895.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03453.hp1 HG03486.hp2 HG03579.hp1 NA18522.hp1 NA19030.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0008 a0001c0009 others(3): Show a0001c0004 a0001c0008 a0001c0009 a0001c0026 a0001c0028 a0002c0006	a0001c0004t0071 a0001c0008t0003 a0001c0009t0013 others(4): Show a0001c0004t0071 a0001c0008t0003 a0001c0009t0013 a0001c0026t0003 a0001c0028t0013 a0002c0006t0001 a0002c0006t0055	a0001c0004t0071g0067 a0001c0008t0003g0058 a0001c0009t0013g0062 others(8): Show a0001c0004t0071g0067 a0001c0008t0003g0058 a0001c0009t0013g0062 a0001c0026t0003g0065 a0001c0028t0013g0061 a0002c0006t0001g0001 a0002c0006t0001g0060 a0002c0006t0001g0063 a0002c0006t0001g0064 a0002c0006t0001g0066 a0002c0006t0055g0059	12	316	0.0380	41	c.79+ others(56): Show c.79+5009_79+5049dupCATCCTTCATCCACCATCCATCCATCCACC CACCCACCATC	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	1/41			chr1	TogoVar

Search by Variant

Search

Search Results