JoGo: Joint Open Genome and Omics Platform

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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
CDH12_chr5_21745673_22858344	22532375	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0002 a0001c0002t0004g0002	1	60	0.0167	40	c.-52 others(61): Show c.-522-27012_-522-27011insCATATATATATATATATATATATA TATATATATATATATA	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	1/14			chr5	TogoVar
CDH13_chr16_82621969_83805640	82842106	A A	ATATGTAT others(33): Show ATATGTATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0018 a0001c0001t0024g0018	1	110	0.0091	40	c.46- others(57): Show c.46-16253_46-16252insGTATATATATATATATATATATATATAT ATATATATGTAT	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH13_chr16_82621969_83805640	83216427	T T	TATATATA others(33): Show TATATATAAATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01167.hp1 HG01175.hp1 HG01081.hp1 HG01167.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0021 a0001c0002t0012 a0001c0002t0021	a0001c0002t0012g0044 a0001c0002t0012g0105 a0001c0002t0021g0008 a0001c0002t0012g0044 a0001c0002t0012g0105 a0001c0002t0021g0008	3	110	0.0273	40	c.484 others(55): Show c.484-911_484-910insAATATATATATATATATATATATATATATA TAAATATATA	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH13_chr16_82621969_83805640	83508055	A A	AGAAGGAA others(33): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03209.hp2 HG03540.hp1 HG01433.hp2 HG03209.hp2 HG03540.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0005 a0003c0016 a0001c0002 a0001c0005 a0003c0016	a0001c0002t0017 a0001c0005t0014 a0003c0016t0040 a0001c0002t0017 a0001c0005t0014 a0003c0016t0040	a0001c0002t0017g0014 a0001c0005t0014g0040 a0003c0016t0040g0009 a0001c0002t0017g0014 a0001c0005t0014g0040 a0003c0016t0040g0009	3	110	0.0273	40	c.960 others(59): Show c.960+21404_960+21443dupGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAA	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH17_chr8_94122162_94213555	94168143	T T	TATATATA others(33): Show TATATATATATATATACGTATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0026 a0001c0005t0001g0026	1	338	0.0030	40	c.106 others(59): Show c.1067-2168_1067-2167insGTATATATATATATATATATATACGT ATATATATATATAT	CDH17	ENSG00000079112.10	transcript	ENST00000027335.8	protein_coding	9/17			chr8	TogoVar
CDH20_chr18_61328430_61560779	61347305	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	280	0.0036	40	c.-15 others(61): Show c.-153+13493_-153+13494insTATATATATATATATATATATACA CATATATATATATATA	CDH20	ENSG00000101542.10	transcript	ENST00000262717.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH20_chr18_61328430_61560779	61347305	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0278 a0001c0004t0008g0278	1	280	0.0036	40	c.-15 others(61): Show c.-153+13493_-153+13494insTATATATATATATATATATATATA CATATATATATATATA	CDH20	ENSG00000101542.10	transcript	ENST00000262717.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH22_chr20_46168739_46313498	46181752	C C	CTTCCTTC others(33): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	318	0.0031	40	c.166 others(59): Show c.1664-3556_1664-3555insAGAAAGAAAGAAAGAAGGAAGGAAGG AAGGAAGGAAGGAA	CDH22	ENSG00000149654.11	transcript	ENST00000537909.4	protein_coding	10/11			chr20	TogoVar
CDH22_chr20_46168739_46313498	46181752	C C	CTTCCTTC others(33): Show CTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02965.hp2 NA19002.hp2 HG01943.hp1 HG02965.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0166 a0001c0001t0002g0230 a0001c0001t0003g0046 a0001c0001t0001g0166 a0001c0001t0002g0230 a0001c0001t0003g0046	3	318	0.0094	40	c.166 others(59): Show c.1664-3556_1664-3555insAGAAAGAAAGAAAGAAAGAAGGAAGG AAGGAAGGAAGGAA	CDH22	ENSG00000149654.11	transcript	ENST00000537909.4	protein_coding	10/11			chr20	TogoVar
CDH22_chr20_46168739_46313498	46181752	C C	CTTCCTTC others(33): Show CTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02132.hp1 HG03490.hp1 others(3): Show HG00544.hp2 HG02132.hp1 HG03490.hp1 HG03710.hp2 NA19011.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 others(3): Show a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0308 a0001c0001t0002g0070 a0001c0002t0001g0299	6	318	0.0189	40	c.166 others(59): Show c.1664-3556_1664-3555insAGAAAGAAAGAAAGAAAGAAAGAAGG AAGGAAGGAAGGAA	CDH22	ENSG00000149654.11	transcript	ENST00000537909.4	protein_coding	10/11			chr20	TogoVar
CDH22_chr20_46168739_46313498	46181752	C C	CTTCCTTC others(33): Show CTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02886.hp1 NA18971.hp2 others(1): Show HG02630.hp2 HG02886.hp1 NA18971.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0003 a0001c0002t0003 a0001c0008t0007 a0001c0001t0003 a0001c0002t0003 a0001c0008t0007	a0001c0001t0003g0205 a0001c0001t0003g0284 a0001c0002t0003g0098 others(1): Show a0001c0001t0003g0205 a0001c0001t0003g0284 a0001c0002t0003g0098 a0001c0008t0007g0002	4	318	0.0126	40	c.166 others(59): Show c.1664-3556_1664-3555insAGAAAGAAAGAAAGAAAGAAAGAAAG AAGGAAGGAAGGAA	CDH22	ENSG00000149654.11	transcript	ENST00000537909.4	protein_coding	10/11			chr20	TogoVar
CDH22_chr20_46168739_46313498	46181752	C C	CTTCCTTC others(33): Show CTTCCTTCCTTCGTTCGTTCCTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	318	0.0031	40	c.166 others(59): Show c.1664-3556_1664-3555insAGAAAGAAAGAAAGAAAGAAGGAACG AACGAAGGAAGGAA	CDH22	ENSG00000149654.11	transcript	ENST00000537909.4	protein_coding	10/11			chr20	TogoVar
CDH23_chr10_71391920_71820947	71760249	A A	ATGTATAT others(33): Show ATGTATATATATGTATATACATATATATGTATGTATATATG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0122 a0002c0122	a0002c0122t0003 a0002c0122t0003	a0002c0122t0003g0099 a0002c0122t0003g0099	1	196	0.0051	40	c.484 others(61): Show c.4846-17410_4846-17371dupTATATATGTATGTATATATGTGTA TATATATGTATATACA	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	38/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH4_chr20_61247261_61945617	61620154	T T	TTGGATGG others(33): Show TTGGATGGATGGATGGACGGATGGGTGGGTGGGTGGATGGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02895.hp1 NA19030.hp1 HG02647.hp1 HG02895.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0016 a0001c0001 a0002c0016	a0001c0001t0001 a0001c0001t0028 a0002c0016t0004 a0001c0001t0001 a0001c0001t0028 a0002c0016t0004	a0001c0001t0001g0006 a0001c0001t0028g0016 a0002c0016t0004g0042 a0001c0001t0001g0006 a0001c0001t0028g0016 a0002c0016t0004g0042	3	106	0.0283	40	c.170 others(61): Show c.170-123393_170-123392insCGGATGGGTGGGTGGGTGGATGGA TGGATGGATGGATGGA	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(33): Show ACGGATGGGTGGGTGGGTGGATGGATGGATGGATGGATGGG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03516.hp1 HG03579.hp1 others(2): Show HG02965.hp2 HG03516.hp1 HG03579.hp1 NA18906.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0012 a0002c0002 a0001c0003 a0001c0012 a0002c0002	a0001c0003t0036 a0001c0003t0053 a0001c0012t0001 others(2): Show a0001c0003t0036 a0001c0003t0053 a0001c0012t0001 a0002c0002t0004 a0002c0002t0005	a0001c0003t0036g0043 a0001c0003t0053g0074 a0001c0012t0001g0008 others(2): Show a0001c0003t0036g0043 a0001c0003t0053g0074 a0001c0012t0001g0008 a0002c0002t0004g0068 a0002c0002t0005g0096	5	106	0.0472	40	c.170 others(61): Show c.170-123393_170-123392insCGGATGGGTGGGTGGGTGGATGGA TGGATGGATGGATGGG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15			chr20	TogoVar
CDH4_chr20_61247261_61945617	61647536	T T	TCTCTCTC others(33): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0030 a0002c0005t0030	a0002c0005t0030g0103 a0002c0005t0030g0103	1	106	0.0094	40	c.170 others(59): Show c.170-96024_170-96023insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCCCTC	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(33): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0031 a0001c0006t0031	a0001c0006t0031g0074 a0001c0006t0031g0074	1	208	0.0048	40	c.210 others(59): Show c.210+18718_210+18719insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTATCTTTC	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(33): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0017 a0002c0004t0017	a0002c0004t0017g0076 a0002c0004t0017g0076	1	208	0.0048	40	c.210 others(59): Show c.210+18718_210+18719insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTATC	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65782067	T T	TTCCTTCC others(33): Show TTCCTTCCTCCTTCCCTTCCTTCCTTCCTTCCTTCCTCTTC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0015 a0002c0014t0015	a0002c0014t0015g0104 a0002c0014t0015g0104	1	208	0.0048	40	c.210 others(59): Show c.210+19016_210+19017insCCTTCCTCCTTCCCTTCCTTCCTTCC TTCCTTCCTCTTCT	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(33): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp1 HG01257.hp1 others(3): Show HG00735.hp1 HG01106.hp1 HG01257.hp1 HG01258.hp1 HG02809.hp2 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0014 a0002c0002 a0002c0014	a0002c0002t0003 a0002c0002t0010 a0002c0002t0042 others(1): Show a0002c0002t0003 a0002c0002t0010 a0002c0002t0042 a0002c0014t0015	a0002c0002t0003g0047 a0002c0002t0003g0087 a0002c0002t0010g0036 others(3): Show a0002c0002t0003g0047 a0002c0002t0003g0087 a0002c0002t0010g0036 a0002c0002t0010g0037 a0002c0002t0042g0022 a0002c0014t0015g0104	6	208	0.0289	40	c.981 others(57): Show c.981+5893_981+5894insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCT	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(33): Show GATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01175.hp2 NA18979.hp1 others(2): Show HG00733.hp2 HG01175.hp2 NA18979.hp1 NA19002.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0003 a0002c0004 a0001c0007 a0002c0003 a0002c0004	a0001c0007t0064 a0002c0003t0004 a0002c0003t0006 others(1): Show a0001c0007t0064 a0002c0003t0004 a0002c0003t0006 a0002c0004t0081	a0001c0007t0064g0145 a0002c0003t0004g0128 a0002c0003t0004g0135 others(2): Show a0001c0007t0064g0145 a0002c0003t0004g0128 a0002c0003t0004g0135 a0002c0003t0006g0129 a0002c0004t0081g0158	5	208	0.0240	40	c.123 others(57): Show c.1235+123_1235+124insATATATATATATATATATATATATATAT ATATATATATAT	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65845171	G G	GTATATAT others(33): Show GTATATATACATACATATATGTATATGTGTATATATATGTA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02451.hp1 others(3): Show HG02258.hp1 HG02280.hp1 HG02451.hp1 HG03209.hp1 HG03225.hp2 HG03579.hp2	a0001 a0001	a0001c0006 a0001c0007 a0001c0006 a0001c0007	a0001c0006t0060 a0001c0007t0011 a0001c0007t0032 others(2): Show a0001c0006t0060 a0001c0007t0011 a0001c0007t0032 a0001c0007t0062 a0001c0007t0063	a0001c0006t0060g0096 a0001c0007t0011g0017 a0001c0007t0011g0069 others(3): Show a0001c0006t0060g0096 a0001c0007t0011g0017 a0001c0007t0011g0069 a0001c0007t0032g0068 a0001c0007t0062g0102 a0001c0007t0063g0195	6	208	0.0289	40	c.123 others(59): Show c.1235+1121_1235+1160dupTATATGTATATGTGTATATATATGTA TATATATACATACA	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH8_chr16_61642250_62041438	61852869	C C	CCTTCCTT others(33): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCATT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0120 a0001c0001t0008g0120	1	168	0.0060	40	c.667 others(57): Show c.667+4249_667+4250insAATGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAG	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	4/11			chr16	TogoVar
CDIN1_chr15_36574626_36815244	36703219	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATAGATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0224 a0001c0004t0001g0224	1	238	0.0042	40	c.544 others(57): Show c.544+5843_544+5844insATATATATATATATATAGATATATATAT ATATATATATAT	CDIN1	ENSG00000186073.14	transcript	ENST00000566621.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
CDIN1_chr15_36574626_36815244	36703219	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00738.hp2 HG01175.hp2 others(6): Show HG00438.hp1 HG00738.hp2 HG01175.hp2 HG01258.hp2 HG02015.hp1 HG02630.hp2 NA18971.hp2 NA19068.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0002 a0001c0004t0002 a0002c0003t0001 a0001c0001t0002 a0001c0004t0002 a0002c0003t0001	a0001c0001t0002g0017 a0001c0001t0002g0027 a0001c0001t0002g0028 others(6): Show a0001c0001t0002g0017 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0069 a0001c0004t0002g0032 a0002c0003t0001g0189	9	238	0.0378	40	c.544 others(57): Show c.544+5843_544+5844insATATATATATATATATATATATATATAT ATATATATATAT	CDIN1	ENSG00000186073.14	transcript	ENST00000566621.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
CDIN1_chr15_36574626_36815244	36703401	A A	ATATATCT others(33): Show ATATATCTGATATACATATATATCAGATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	238	0.0042	40	c.545 others(57): Show c.545-5821_545-5820insATATCTGATATACATATATATCAGATAT ATATATATATCT	CDIN1	ENSG00000186073.14	transcript	ENST00000566621.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
CDIN1_chr15_36574626_36815244	36703401	A A	ATATCTGA others(33): Show ATATCTGATATACATATATATCAGATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02132.hp1 HG02135.hp2 others(3): Show HG02071.hp1 HG02132.hp1 HG02135.hp2 NA19065.hp2 NA19068.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0020	a0001c0001t0001g0127 a0002c0002t0001g0171 a0002c0002t0001g0204 others(3): Show a0001c0001t0001g0127 a0002c0002t0001g0171 a0002c0002t0001g0204 a0002c0002t0001g0208 a0002c0002t0002g0059 a0002c0002t0020g0178	6	238	0.0252	40	c.545 others(57): Show c.545-5821_545-5820insATCTGATATACATATATATCAGATATAT ATATATATATCT	CDIN1	ENSG00000186073.14	transcript	ENST00000566621.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
CDIN1_chr15_36574626_36815244	36703401	A A	ATCTGATA others(33): Show ATCTGATATACATATATATCAGATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03453.hp1 HG02647.hp1 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0003 a0001c0001t0002 a0002c0002t0003	a0001c0001t0002g0095 a0002c0002t0003g0094 a0001c0001t0002g0095 a0002c0002t0003g0094	2	238	0.0084	40	c.545 others(57): Show c.545-5821_545-5820insCTGATATACATATATATCAGATATATAT ATATATATATCT	CDIN1	ENSG00000186073.14	transcript	ENST00000566621.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
CDK14_chr7_90591321_91215590	90895394	T T	TCCTCTCC others(33): Show TCCTCTCCTCTCCTCTCCTCACCTCTCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0040 a0001c0001t0006g0040	1	168	0.0060	40	c.640 others(57): Show c.640-3878_640-3877insACCTCTCCTCCCCTCCCCTCCCCTCTCC TCTCCTCTCCTC	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK14_chr7_90591321_91215590	91091501	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	168	0.0060	40	c.115 others(61): Show c.1154+12037_1154+12038insTATATATATATATATATATATATA TATATATATATATATA	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK14_chr7_90591321_91215590	91186141	T T	TCCTCTCC others(33): Show TCCTCTCCTCTCCTCCCCTCCCCTCTCCTCTCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0035 a0001c0001t0042g0035	1	168	0.0060	40	c.29 others(59): Show c.29-20899_*29-20860dupTCCTCTCCTCCCCTCCCCTCTCCTCT CCTCCCCTCCCCTC	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK15_chr2_201801537_201900550	201857232	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0065 a0001c0001t0028g0065	1	322	0.0031	40	c.100 others(59): Show c.1009+2311_1009+2312insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	CDK15	ENSG00000138395.17	transcript	ENST00000652192.3	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
CDK18_chr1_205499669_205537790	205532937	G G	GTGTATGT others(33): Show GTGTATGTGTGTGTGTGTGTGTGTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0285 a0001c0001t0007g0285	1	388	0.0026	40	c.15 others(51): Show c.1559_*1560insTGTATGTGTGTGTGTGTGTGTGTATATATATATA TATATA	CDK18	ENSG00000117266.16	transcript	ENST00000429964.7	protein_coding		148		chr1	TogoVar
CDK18_chr1_205499669_205537790	205532937	G G	GTGTATGT others(33): Show GTGTATGTGTGTGTGTGTGTGTGTGTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0054 a0001c0001t0011g0054	1	388	0.0026	40	c.15 others(51): Show c.1559_*1560insTGTATGTGTGTGTGTGTGTGTGTGTATATATATA TATATA	CDK18	ENSG00000117266.16	transcript	ENST00000429964.7	protein_coding		148		chr1	TogoVar
CDK18_chr1_205499669_205537790	205532937	G G	GTGTGTAT others(33): Show GTGTGTATGTGTGTGTGTGTGTGTGTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0035 a0001c0001t0007g0035	2	388	0.0052	40	c.15 others(51): Show c.1559_*1560insTGTGTATGTGTGTGTGTGTGTGTGTATATATATA TATATA	CDK18	ENSG00000117266.16	transcript	ENST00000429964.7	protein_coding		148		chr1	TogoVar
CDK18_chr1_205499669_205537790	205534357	G G	GGCCAGCC others(33): Show GGCCAGCCTGGGGGTGTGGAACTCAGCTGGACAGGCCTACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0148 a0001c0001t0003g0148	1	388	0.0026	40	c.29 others(51): Show c.2979_*2980insGCCAGCCTGGGGGTGTGGAACTCAGCTGGACAGG CCTACA	CDK18	ENSG00000117266.16	transcript	ENST00000429964.7	protein_coding		1568		chr1	TogoVar
CDK19_chr6_110604978_110820469	110734520	G G	GCTCTCTC others(33): Show GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0292 a0001c0001t0009g0292	1	300	0.0033	40	c.204 others(59): Show c.204+11566_204+11605dupAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAG	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	2/12			chr6	TogoVar
CDK2AP1_chr12_123255976_123276856	123275040	T T	TGCTGAGG others(33): Show TGCTGAGGGGCTGAGGGGCTGGGGTGCTGAGGGGCTGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA21309.hp1 NA19030.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0110 a0001c0001t0001g0111	2	328	0.0061	40	c.-34 others(51): Show c.-3423_-3422insCCCTCAGCCCCTCAGCACCCCAGCCCCTCAGCCC CTCAGC	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding		3185		chr12	TogoVar
CDK2AP1_chr12_123255976_123276856	123275048	G G	GGCTGAGG others(33): Show GGCTGAGGTGCTGAGGGGCTGGGGTGCTGAGGGGCTGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	328	0.0031	40	c.-34 others(51): Show c.-3431_-3430insACCCCAGCCCCTCAGCACCCCAGCCCCTCAGCAC CTCAGC	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding		3193		chr12	TogoVar
CDK2AP1_chr12_123255976_123276856	123275048	G G	GGCTGGGG others(33): Show GGCTGGGGTGCTGAGGGGCTGAGGTGCTGAGGGGCTGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG02129.hp1 HG02155.hp1 others(3): Show HG00642.hp1 HG02129.hp1 HG02155.hp1 NA18942.hp2 NA18960.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0039 a0001c0001t0001g0115 a0001c0001t0001g0002 a0001c0001t0001g0039 a0001c0001t0001g0115	6	328	0.0183	40	c.-34 others(51): Show c.-3431_-3430insACCCCAGCCCCTCAGCACCTCAGCCCCTCAGCAC CCCAGC	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding		3193		chr12	TogoVar
CDK2AP1_chr12_123255976_123276856	123275184	G G	GGCTGGGG others(33): Show GGCTGGGGTGCTGAGGGGCTGAGGGGCTGAGGGGCTGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	328	0.0031	40	c.-35 others(51): Show c.-3567_-3566insACCTCAGCCCCTCAGCCCCTCAGCCCCTCAGCAC CCCAGC	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding		3329		chr12	TogoVar
CDK5R2_chr2_218954666_218967155	218966479	A A	AAAAAAAA others(33): Show AAAAAAAAAATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	388	0.0026	40	c.55 others(51): Show c.5555_*5556insAAAAAAAAATATATATATATATATATATATATAT ATATAT	CDK5R2	ENSG00000171450.6	transcript	ENST00000302625.6	protein_coding		4325		chr2	TogoVar
CDK5RAP1_chr20_33353839_33406519	33389309	G G	GGCCGCCC others(33): Show GGCCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGCGCGGCA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	358	0.0028	40	c.545 others(57): Show c.545-1816_545-1777dupTGCCGCGCGGAGGGGCTCCTCACTTCTC AGACGGGGCGGC	CDK5RAP1	ENSG00000101391.21	transcript	ENST00000346416.7	protein_coding	5/13			chr20	TogoVar
CDK6_chr7_92599921_92841573	92778946	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA19084.hp1 HG03209.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0041 a0001c0001t0028 a0001c0001t0041	a0001c0001t0028g0049 a0001c0001t0041g0099 a0001c0001t0028g0049 a0001c0001t0041g0099	2	124	0.0161	40	c.234 others(57): Show c.234-4116_234-4115insTTATATATATATATATATATATATATAT ATATATATATAT	CDK6	ENSG00000105810.10	transcript	ENST00000424848.3	protein_coding	2/7			chr7	TogoVar
CDKAL1_chr6_20529457_21237404	20797760	C C	CTTTATTT others(33): Show CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp2 HG02647.hp1 others(1): Show HG02145.hp2 HG02615.hp2 HG02647.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0023 a0001c0008t0011 a0001c0001t0001 a0001c0001t0023 a0001c0008t0011	a0001c0001t0001g0018 a0001c0001t0023g0115 a0001c0008t0011g0068 others(1): Show a0001c0001t0001g0018 a0001c0001t0023g0115 a0001c0008t0011g0068 a0001c0008t0011g0069	4	196	0.0204	40	c.638 others(59): Show c.638+16524_638+16563dupATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20992208	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0083 a0001c0001t0004g0083	1	196	0.0051	40	c.910 others(57): Show c.910-8016_910-8015insATATATATATATATATATATATATATAT ATATGTATGTAT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21003371	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0133 a0001c0004t0004g0133	1	196	0.0051	40	c.105 others(59): Show c.1055+3000_1055+3001insTATATATATATATATATATATATATA TATATATATACACA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKL5_chrX_18420608_18645196	18509197	G G	GCACGCGC others(33): Show GCACGCGCGCGCGCGCGCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0188 a0001c0001t0015g0188	1	192	0.0052	40	c.65- others(55): Show c.65-1620_65-1619insGCGCGCGCGCGCGCACACACACACACACAC ACACACACAC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKN1A_chr6_36673714_36692332	36681264	T T	TTTTCTTT others(33): Show TTTTCTTTCTCTCTTTCTTTCCTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0332	1	454	0.0022	40	c.-6+ others(55): Show c.-6+2475_-6+2476insCTCTTTCTTTCCTTCTTTCTTTCTTTCTTT CTTTCTTTCT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36681334	T T	TTCTTTCC others(33): Show TTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0315 a0001c0001t0006g0315	1	454	0.0022	40	c.-6+ others(55): Show c.-6+2537_-6+2538insCTTTCCTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTTTCT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar

Search by Variant

Search

Search Results (Total: 6641 hits)