Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CDH23_chr10_71391920_71820947	71759846	C C	CACACACA others(29): Show CACACACACACACACACATATACACACACACACACAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0071 a0002c0071	a0002c0071t0003 a0002c0071t0003	a0002c0071t0003g0149 a0002c0071t0003g0149	1	196	0.0051	36	c.484 others(57): Show c.4846-17833_4846-17832insCACACACACACACACATATACACA CACACACACATA	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	38/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH24_chr14_23042067_23062520	23052320	G G	GGATCCAG others(29): Show GGATCCAGGCTAGGACTCAGATCCAGGCTAGGACCCA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	414	0.0024	36	c.136 others(53): Show c.1363+152_1363+153insTGGGTCCTAGCCTGGATCTGAGTCCTAG CCTGGATC	CDH24	ENSG00000139880.21	transcript	ENST00000487137.7	protein_coding	8/12			chr14	TogoVar
CDH26_chr20_59953423_60019529	59956808	A A	ATATATAT others(29): Show ATATATATGTGTATGTATATATATACATATATGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02572.hp1 HG03471.hp1 others(1): Show HG02148.hp2 HG02572.hp1 HG03471.hp1 HG03540.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0004 a0003c0006t0004 a0003c0006t0014 others(1): Show a0001c0001t0004 a0003c0006t0004 a0003c0006t0014 a0003c0006t0016	a0001c0001t0004g0022 a0003c0006t0004g0025 a0003c0006t0014g0026 others(1): Show a0001c0001t0004g0022 a0003c0006t0004g0025 a0003c0006t0014g0026 a0003c0006t0016g0023	4	288	0.0139	36	c.-19 others(47): Show c.-1919_-1918insTATATATGTGTATGTATATATATACATATATGTG TG	CDH26	ENSG00000124215.17	transcript	ENST00000348616.9	protein_coding		1614		chr20	TogoVar
CDH26_chr20_59953423_60019529	59956939	T T	TATATATA others(29): Show TATATATACATATATGCGTGTATATATGTACATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01256.hp1 HG01258.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0014 a0001c0001 a0009c0014	a0001c0001t0026 a0009c0014t0010 a0001c0001t0026 a0009c0014t0010	a0001c0001t0026g0009 a0009c0014t0010g0010 a0009c0014t0010g0011 a0001c0001t0026g0009 a0009c0014t0010g0010 a0009c0014t0010g0011	3	288	0.0104	36	c.-17 others(47): Show c.-1788_-1787insATATATACATATATGCGTGTATATATGTACATAC AC	CDH26	ENSG00000124215.17	transcript	ENST00000348616.9	protein_coding		1483		chr20	TogoVar
CDH2_chr18_27945966_28182130	28043461	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATAAAT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0261 a0001c0001t0009g0261	1	268	0.0037	36	c.173 others(55): Show c.173-29588_173-29553dupATTTATATATATATATATATATATAT ATATATATAT	CDH2	ENSG00000170558.10	transcript	ENST00000269141.8	protein_coding	2/15			chr18	TogoVar
CDH4_chr20_61247261_61945617	61282908	C C	CGTGTATG others(29): Show CGTGTATGATGCACGTGCATTTGCACGCGTGTGCTGT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0008 a0001c0012t0001g0008	1	106	0.0094	36	c.169 others(55): Show c.169+27975_169+27976insATGATGCACGTGCATTTGCACGCGTG TGCTGTGTGT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61528386	T T	TGAGAGGA others(29): Show TGAGAGGAGGGGAAGGGAGGGGAGGGGGGTGGAGGGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01255.hp1 HG01346.hp2 others(22): Show HG00639.hp1 HG01255.hp1 HG01346.hp2 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02451.hp1 HG02723.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03540.hp2 HG03579.hp2 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0006 others(7): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0010 a0001c0020 a0002c0002 a0002c0004 a0002c0014 a0003c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0017 a0001c0001t0028 a0001c0001t0031 a0001c0001t0048 a0001c0003t0017 a0001c0003t0037 a0001c0003t0052 a0001c0003t0054 a0001c0006t0006 a0001c0006t0021 a0001c0006t0029 a0001c0007t0010 a0001c0010t0001 a0001c0020t0006 a0002c0002t0005 a0002c0002t0012 a0002c0002t0013 a0002c0002t0041 a0002c0004t0003 a0002c0014t0003 a0003c0017t0002	a0001c0001t0001g0012 a0001c0001t0001g0046 a0001c0001t0002g0007 others(22): Show a0001c0001t0001g0012 a0001c0001t0001g0046 a0001c0001t0002g0007 a0001c0001t0009g0019 a0001c0001t0017g0065 a0001c0001t0028g0016 a0001c0001t0031g0089 a0001c0001t0048g0085 a0001c0003t0017g0067 a0001c0003t0037g0023 a0001c0003t0052g0064 a0001c0003t0054g0086 a0001c0006t0006g0029 a0001c0006t0021g0004 a0001c0006t0029g0035 a0001c0007t0010g0037 a0001c0010t0001g0027 a0001c0020t0006g0094 a0002c0002t0005g0022 a0002c0002t0012g0104 a0002c0002t0013g0017 a0002c0002t0041g0087 a0002c0004t0003g0034 a0002c0014t0003g0090 a0003c0017t0002g0053	25	106	0.2359	36	c.170 others(57): Show c.170-215134_170-215099dupAGGGGAAGGGAGGGGAGGGGGGTG GAGGGGGAGAGG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61528437	G G	GGAGGGGA others(29): Show GGAGGGGAGGGGGGTGGAGGGGGAGAGGAGGGGAAGA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02647.hp1 HG01433.hp1 HG02647.hp1	a0001 a0002 a0001 a0002	a0001c0011 a0002c0016 a0001c0011 a0002c0016	a0001c0011t0008 a0002c0016t0004 a0001c0011t0008 a0002c0016t0004	a0001c0011t0008g0101 a0002c0016t0004g0042 a0001c0011t0008g0101 a0002c0016t0004g0042	2	106	0.0189	36	c.170 others(57): Show c.170-215099_170-215098insAGGGGAAGAGAGGGGAGGGGGGTG GAGGGGGAGAGG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61528449	G G	GGTGGAGG others(29): Show GGTGGAGGGGGAGAGGAGGGGAAGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18906.hp2 HG02965.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0005 a0002c0002t0004 a0002c0002t0005	a0002c0002t0004g0068 a0002c0002t0005g0096 a0002c0002t0004g0068 a0002c0002t0005g0096	2	106	0.0189	36	c.170 others(57): Show c.170-215099_170-215098insAGGGGAAGGGAGGGGAGGGGAGTG GAGGGGGAGAGG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61565062	T T	TTGGTGGT others(29): Show TTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp2 HG01433.hp1 HG00738.hp1 HG01081.hp2 HG01433.hp1	a0001 a0002 a0001 a0002	a0001c0011 a0001c0022 a0002c0005 a0001c0011 a0001c0022 a0002c0005	a0001c0011t0008 a0001c0022t0042 a0002c0005t0015 a0001c0011t0008 a0001c0022t0042 a0002c0005t0015	a0001c0011t0008g0101 a0001c0022t0042g0072 a0002c0005t0015g0069 a0001c0011t0008g0101 a0001c0022t0042g0072 a0002c0005t0015g0069	3	106	0.0283	36	c.170 others(57): Show c.170-178475_170-178474insGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61565080	G G	GTGGTGGT others(29): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTCT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0013 a0002c0004t0013	a0002c0004t0013g0021 a0002c0004t0013g0021	1	106	0.0094	36	c.170 others(57): Show c.170-178475_170-178474insGTGGTGGTGGTGGTGGTGGTGGTG CTCTTGGTGGTG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61565412	C C	CTTGGTGA others(29): Show CTTGGTGATGGTGGTGGTGCTGGTGCTCTTGGTGCTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0003 a0002c0014t0003	a0002c0014t0003g0090 a0002c0014t0003g0090	1	106	0.0094	36	c.170 others(57): Show c.170-178148_170-178147insGTGATGGTGGTGGTGCTGGTGCTC TTGGTGCTGTTG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61620170	A A	ACGGATGG others(29): Show ACGGATGGGTGGGTGGGTGGATGGATGGATGGATGGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp2 HG02145.hp1 others(12): Show HG01109.hp1 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02559.hp1 HG02559.hp2 HG02647.hp2 HG02895.hp2 HG02922.hp1 HG03209.hp2 HG03516.hp2 HG03579.hp2 NA18522.hp2 NA19030.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(3): Show a0001c0001 a0001c0003 a0001c0007 a0001c0010 a0002c0002 a0002c0004	a0001c0001t0009 a0001c0001t0011 a0001c0001t0018 others(9): Show a0001c0001t0009 a0001c0001t0011 a0001c0001t0018 a0001c0001t0038 a0001c0003t0037 a0001c0007t0010 a0001c0010t0001 a0001c0010t0009 a0002c0002t0004 a0002c0002t0013 a0002c0004t0003 a0002c0004t0033	a0001c0001t0009g0013 a0001c0001t0009g0019 a0001c0001t0011g0005 others(12): Show a0001c0001t0009g0013 a0001c0001t0009g0019 a0001c0001t0011g0005 a0001c0001t0011g0033 a0001c0001t0018g0031 a0001c0001t0038g0092 a0001c0003t0037g0023 a0001c0007t0010g0018 a0001c0007t0010g0037 a0001c0010t0001g0027 a0001c0010t0009g0045 a0002c0002t0004g0070 a0002c0002t0013g0017 a0002c0004t0003g0010 a0002c0004t0033g0095	15	106	0.1415	36	c.170 others(57): Show c.170-123393_170-123392insCGGATGGGTGGGTGGGTGGATGGA TGGATGGATGGG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15			chr20	TogoVar
CDH4_chr20_61247261_61945617	61620170	A A	ACGGATGG others(29): Show ACGGATGGGTGGGTGGGTGGATGGATGGATGGGTGGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03130.hp1 HG03139.hp1 others(1): Show HG02451.hp1 HG03130.hp1 HG03139.hp1 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0020 others(1): Show a0001c0001 a0001c0003 a0001c0020 a0002c0014	a0001c0001t0001 a0001c0003t0043 a0001c0020t0006 others(1): Show a0001c0001t0001 a0001c0003t0043 a0001c0020t0006 a0002c0014t0003	a0001c0001t0001g0012 a0001c0003t0043g0081 a0001c0020t0006g0094 others(1): Show a0001c0001t0001g0012 a0001c0003t0043g0081 a0001c0020t0006g0094 a0002c0014t0003g0090	4	106	0.0377	36	c.170 others(57): Show c.170-123393_170-123392insCGGATGGGTGGGTGGGTGGATGGA TGGATGGGTGGG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15			chr20	TogoVar
CDH4_chr20_61247261_61945617	61620170	A A	ACGGATGG others(29): Show ACGGATGGGTGGGTGGGTGGGTGGATGGATGGATGGG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0010 a0001c0007t0010	a0001c0007t0010g0044 a0001c0007t0010g0044	1	106	0.0094	36	c.170 others(57): Show c.170-123393_170-123392insCGGATGGGTGGGTGGGTGGGTGGA TGGATGGATGGG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15			chr20	TogoVar
CDH4_chr20_61247261_61945617	61620178	G G	GTGGGTGG others(29): Show GTGGGTGGGTGGATGGATGGATGGATGGATGGACGGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0091 a0001c0001t0019g0091	1	106	0.0094	36	c.170 others(57): Show c.170-123357_170-123356insTGGACGGATGGGTGGGTGGATGGA TGGATGGATGGA	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61647536	T T	TCTCTCTC others(29): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0091 a0001c0001t0019g0091	1	106	0.0094	36	c.170 others(55): Show c.170-96024_170-96023insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCCCTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH7_chr18_65746012_65895337	65781764	T T	TTCTTTCT others(29): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02895.hp1 HG03041.hp1 HG02723.hp2 HG02895.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0015 a0002c0004t0050 a0002c0002t0015 a0002c0004t0050	a0002c0002t0015g0003 a0002c0002t0015g0004 a0002c0004t0050g0071 a0002c0002t0015g0003 a0002c0002t0015g0004 a0002c0004t0050g0071	3	208	0.0144	36	c.210 others(55): Show c.210+18718_210+18719insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTATCTTTC	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65781768	T T	TTCTTTCT others(29): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03654.hp1 HG03831.hp2 others(1): Show HG01884.hp1 HG03654.hp1 HG03831.hp2 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0011 a0002c0002 a0002c0003 a0001c0011 a0002c0002 a0002c0003	a0001c0011t0002 a0002c0002t0097 a0002c0003t0013 others(1): Show a0001c0011t0002 a0002c0002t0097 a0002c0003t0013 a0002c0003t0040	a0001c0011t0002g0008 a0002c0002t0097g0065 a0002c0003t0013g0005 others(1): Show a0001c0011t0002g0008 a0002c0002t0097g0065 a0002c0003t0013g0005 a0002c0003t0040g0064	4	208	0.0192	36	c.210 others(55): Show c.210+18718_210+18719insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTATC	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65781772	T T	TTCTTTCT others(29): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02735.hp2 HG02738.hp2 others(1): Show HG02083.hp1 HG02735.hp2 HG02738.hp2 HG04115.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0002c0010	a0001c0001t0002 a0002c0002t0042 a0002c0003t0014 others(1): Show a0001c0001t0002 a0002c0002t0042 a0002c0003t0014 a0002c0010t0003	a0001c0001t0002g0090 a0002c0002t0042g0022 a0002c0003t0014g0063 others(1): Show a0001c0001t0002g0090 a0002c0002t0042g0022 a0002c0003t0014g0063 a0002c0010t0003g0056	4	208	0.0192	36	c.210 others(55): Show c.210+18722_210+18723insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTATC	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65782107	C C	CTTCCTTC others(29): Show CTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0068 a0002c0005t0068	a0002c0005t0068g0098 a0002c0005t0068g0098	1	208	0.0048	36	c.210 others(55): Show c.210+19058_210+19059insCTTCCTTCCTTCCTTCCTTCTTTCTT TCTTTCTTTC	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65830721	C C	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA19030.hp2 HG02145.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0075 a0002c0002t0036 a0002c0002t0075	a0002c0002t0036g0021 a0002c0002t0075g0108 a0002c0002t0036g0021 a0002c0002t0075g0108	2	208	0.0096	36	c.981 others(53): Show c.981+5893_981+5894insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65844174	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01346.hp2 HG01516.hp1 others(7): Show HG00642.hp1 HG01346.hp2 HG01516.hp1 HG02559.hp2 HG02717.hp1 HG02717.hp2 HG03130.hp2 HG03225.hp1 HG03471.hp2 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0001c0024 a0002c0003 others(2): Show a0001c0006 a0001c0024 a0002c0003 a0002c0004 a0002c0010	a0001c0006t0034 a0001c0006t0059 a0001c0024t0002 others(7): Show a0001c0006t0034 a0001c0006t0059 a0001c0024t0002 a0002c0003t0006 a0002c0003t0023 a0002c0003t0070 a0002c0004t0033 a0002c0004t0061 a0002c0004t0082 a0002c0010t0006	a0001c0006t0034g0075 a0001c0006t0059g0179 a0001c0024t0002g0082 others(7): Show a0001c0006t0034g0075 a0001c0006t0059g0179 a0001c0024t0002g0082 a0002c0003t0006g0140 a0002c0003t0023g0043 a0002c0003t0070g0127 a0002c0004t0033g0079 a0002c0004t0061g0146 a0002c0004t0082g0174 a0002c0010t0006g0110	10	208	0.0481	36	c.123 others(53): Show c.1235+123_1235+124insATATATATATATATATATATATATATAT ATATATAT	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65844174	G G	GATTTATA others(29): Show GATTTATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0087 a0002c0002t0003g0087	1	208	0.0048	36	c.123 others(53): Show c.1235+111_1235+112insTTATATATATATATATATATATATATAT ATATATAT	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH8_chr16_61642250_62041438	61768346	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	168	0.0060	36	c.141 others(57): Show c.1414+20999_1414+21000insAAGGGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	8/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61768398	T T	TTCTCTCT others(29): Show TTCTCTCTCTCTCTCTCTCTCTCCCTTTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0100 a0001c0001t0005g0100	1	168	0.0060	36	c.141 others(57): Show c.1414+20947_1414+20948insGAGAGAGAGAAAGGGAGAGAGAGA GAGAGAGAGAGA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	8/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61852869	C C	CCTTCCTT others(29): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCATT	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18968.hp2 HG00544.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0066 a0001c0001t0006 a0001c0001t0066	a0001c0001t0006g0162 a0001c0001t0066g0165 a0001c0001t0006g0162 a0001c0001t0066g0165	2	168	0.0119	36	c.667 others(53): Show c.667+4249_667+4250insAATGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAG	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	4/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61852873	C C	CCTTCCTT others(29): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCATT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0041 a0001c0001t0009g0041	1	168	0.0060	36	c.667 others(53): Show c.667+4245_667+4246insAATGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAG	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	4/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61852877	C C	CCTTCCTT others(29): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCATT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0003 a0001c0001t0030g0003	1	168	0.0060	36	c.667 others(53): Show c.667+4241_667+4242insAATGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAG	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	4/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61852885	C C	CCTTCCTT others(29): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCATT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0008 a0001c0002t0028g0008	1	168	0.0060	36	c.667 others(53): Show c.667+4233_667+4234insAATGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAG	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	4/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61960228	C C	CATACATA others(29): Show CATACATATATACATATGTGTGTGCGTGTATACACAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0102 a0001c0001t0020g0102	1	168	0.0060	36	c.253 others(55): Show c.253-58756_253-58755insATGTGTATACACGCACACACATATGT ATATATGTAT	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDH9_chr5_26875597_27043586	26954388	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG02723.hp1 others(1): Show HG02257.hp2 HG02451.hp1 HG02723.hp1 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0029 a0002c0002t0001g0155 a0002c0002t0001g0156 others(1): Show a0001c0001t0001g0029 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0174	4	240	0.0167	36	c.228 others(55): Show c.228+33717_228+33718insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	CDH9	ENSG00000113100.10	transcript	ENST00000231021.9	protein_coding	2/11			chr5	TogoVar
CDHR2_chr5_176544342_176600824	176600180	G G	GCGCGATC others(29): Show GCGCGATCTCAGCTCACCGCAACCGCAACCTCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0001 a0002c0026t0001	a0002c0026t0001g0293 a0002c0026t0001g0293	1	344	0.0029	36	c.45 others(47): Show c.4508_*4509insCGCGATCTCAGCTCACCGCAACCGCAACCTCCGC CT	CDHR2	ENSG00000074276.11	transcript	ENST00000261944.10	protein_coding		4357		chr5	TogoVar
CDIN1_chr15_36574626_36815244	36703219	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01167.hp2 HG01891.hp2 others(2): Show HG00639.hp1 HG01167.hp2 HG01891.hp2 NA19030.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0002c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0003 a0002c0002t0002 a0002c0003t0003	a0001c0001t0002g0007 a0001c0001t0002g0018 a0001c0001t0003g0082 others(2): Show a0001c0001t0002g0007 a0001c0001t0002g0018 a0001c0001t0003g0082 a0002c0002t0002g0009 a0002c0003t0003g0101	5	238	0.0210	36	c.544 others(53): Show c.544+5843_544+5844insATATATATATATATATATATATATATAT ATATATAT	CDIN1	ENSG00000186073.14	transcript	ENST00000566621.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
CDIN1_chr15_36574626_36815244	36703377	T T	TATATATC others(29): Show TATATATCAGATATATATATATATATATCTGATATAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02129.hp1 HG02602.hp2 HG00642.hp2 HG02129.hp1 HG02602.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 a0001c0001 a0002c0002 a0002c0005	a0001c0001t0019 a0002c0002t0009 a0002c0005t0002 a0001c0001t0019 a0002c0002t0009 a0002c0005t0002	a0001c0001t0019g0191 a0002c0002t0009g0081 a0002c0005t0002g0001 a0001c0001t0019g0191 a0002c0002t0009g0081 a0002c0005t0002g0001	3	238	0.0126	36	c.545 others(53): Show c.545-5840_545-5839insCAGATATATATATATATATATCTGATAT ACATATAT	CDIN1	ENSG00000186073.14	transcript	ENST00000566621.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
CDK12_chr17_39456486_39539544	39499207	C C	CTTTCTTT others(29): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	1	260	0.0039	36	c.242 others(55): Show c.2420-2043_2420-2042insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTCTT	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13			chr17	TogoVar
CDK12_chr17_39456486_39539544	39532102	T T	TTCTCTCT others(29): Show TTCTCTCTCTCTCTATCTCTCTCTCTCTCTCTCTCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0097 a0001c0001t0034g0097	1	260	0.0039	36	c.79 others(45): Show c.799_*800insATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	14/14	800	INFO_REALIGN_3_PRIME	chr17	TogoVar
CDK13_chr7_39945256_40104580	39976323	T T	TCACACAC others(29): Show TCACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	322	0.0031	36	c.121 others(57): Show c.1212-11275_1212-11240dupCACACACACACACACACACACACA CACACACACACA	CDK13	ENSG00000065883.18	transcript	ENST00000181839.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK13_chr7_39945256_40104580	40076616	A A	ACATAGTA others(29): Show ACATAGTATCTTTAAACATAGTATCTTTAAACATAGT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02965.hp1 HG03688.hp2 HG02056.hp1 HG02965.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0028 a0001c0001t0001 a0001c0001t0026 a0001c0001t0028	a0001c0001t0001g0314 a0001c0001t0026g0313 a0001c0001t0028g0058 a0001c0001t0001g0314 a0001c0001t0026g0313 a0001c0001t0028g0058	3	322	0.0093	36	c.278 others(55): Show c.2781-1389_2781-1388insCATAGTATCTTTAAACATAGTATCTT TAAACATAGT	CDK13	ENSG00000065883.18	transcript	ENST00000181839.10	protein_coding	9/13			chr7	TogoVar
CDK13_chr7_39945256_40104580	40104235	A A	AACTGTCT others(29): Show AACTGTCTAAAGTATACGTAATCCGTGGCTCATGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	322	0.0031	36	c.92 others(47): Show c.9255_*9256insACTGTCTAAAGTATACGTAATCCGTGGCTCATGC CT	CDK13	ENSG00000065883.18	transcript	ENST00000181839.10	protein_coding		4656		chr7	TogoVar
CDK14_chr7_90591321_91215590	90775625	C C	CCCCCTCC others(29): Show CCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00738.hp2 HG02132.hp1 others(6): Show HG00621.hp1 HG00738.hp2 HG02132.hp1 HG02293.hp1 HG02738.hp1 HG03225.hp2 HG04184.hp1 NA18977.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0029 a0001c0001t0036	a0001c0001t0001g0029 a0001c0001t0001g0094 a0001c0001t0002g0082 others(6): Show a0001c0001t0001g0029 a0001c0001t0001g0094 a0001c0001t0002g0082 a0001c0001t0003g0088 a0001c0001t0004g0011 a0001c0001t0009g0056 a0001c0001t0011g0068 a0001c0001t0029g0095 a0001c0001t0036g0044	9	168	0.0536	36	c.465 others(55): Show c.465-14947_465-14912dupCCCCTCCCCCTTCCCCTCCCCCTTCC CCTCCCCCTT	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK14_chr7_90591321_91215590	91010831	T T	TCCTTCCT others(29): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0038 a0001c0001t0030g0038	1	168	0.0060	36	c.104 others(57): Show c.1041+26593_1041+26594insTCCTTCCTTCCTTCCTTCCTTCCT TCTTTCCTCCCT	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK14_chr7_90591321_91215590	91091501	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	168	0.0060	36	c.115 others(57): Show c.1154+12037_1154+12038insTATATATATATATATATATATATA TATATATATATA	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK15_chr2_201801537_201900550	201857232	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	322	0.0031	36	c.100 others(55): Show c.1009+2311_1009+2312insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	CDK15	ENSG00000138395.17	transcript	ENST00000652192.3	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
CDK18_chr1_205499669_205537790	205532937	G G	GTATGTGT others(29): Show GTATGTGTGTGTGTGTGTGTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0145 a0001c0005t0007g0145	1	388	0.0026	36	c.15 others(47): Show c.1559_*1560insTATGTGTGTGTGTGTGTGTATATATATATATATA TA	CDK18	ENSG00000117266.16	transcript	ENST00000429964.7	protein_coding		148		chr1	TogoVar
CDK18_chr1_205499669_205537790	205532937	G G	GTGTATGT others(29): Show GTGTATGTGTGTGTGTGTGTGTGTGTATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0165 a0001c0001t0011g0165	1	388	0.0026	36	c.15 others(47): Show c.1559_*1560insTGTATGTGTGTGTGTGTGTGTGTGTATATATATA TA	CDK18	ENSG00000117266.16	transcript	ENST00000429964.7	protein_coding		148		chr1	TogoVar
CDK18_chr1_205499669_205537790	205532937	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0129 a0002c0002t0010g0129	1	388	0.0026	36	c.15 others(47): Show c.1559_*1560insTGTGTGTGTGTATATATATATATATATATATATA TA	CDK18	ENSG00000117266.16	transcript	ENST00000429964.7	protein_coding		148		chr1	TogoVar
CDK19_chr6_110604978_110820469	110734520	G G	GCTCTCTC others(29): Show GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0065 a0001c0001t0004g0065	1	300	0.0033	36	c.204 others(55): Show c.204+11570_204+11605dupAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAG	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	2/12			chr6	TogoVar
CDK19_chr6_110604978_110820469	110759428	A A	AAAAAAAA others(29): Show AAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0275 a0001c0001t0016g0275	1	300	0.0033	36	c.129 others(55): Show c.129-13228_129-13227insATATATATATATATATATATATATAT TTTTTTTTTT	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	1/12			chr6	TogoVar
CDK9_chr9_127781034_127795792	127784585	G G	GCTGGAGG others(29): Show GCTGGAGGCTGTCCTTGGGCAGAGCTGGAGGGGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	412	0.0024	36	c.-15 others(47): Show c.-1564_-1563insCTGGAGGCTGTCCTTGGGCAGAGCTGGAGGGGGA AT	CDK9	ENSG00000136807.14	transcript	ENST00000373264.5	protein_coding		1448		chr9	TogoVar

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Search Results (Total: 8848 hits)