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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
CAPN13_chr2_30717771_30812446	30796146	A A	ATATATAT others(25): Show ATATATATATATATATATACATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0139 a0001c0002t0002g0139	1	384	0.0026	32	c.-32 others(49): Show c.-32-8790_-32-8789insCACACATATATATGTATATATATATATA TATA	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN15_chr16_522712_559636	544867	C C	CCTCCCCC others(25): Show CCTCCCCCACGTCGCCTCCCCTCACGTCGTCGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01070.hp2 HG01257.hp1 others(13): Show HG00323.hp1 HG01070.hp2 HG01257.hp1 HG01258.hp2 HG02258.hp1 HG03704.hp2 NA18945.hp2 NA18947.hp1 NA18956.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18967.hp2 NA18984.hp2 NA19004.hp1 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0001c0013	a0001c0002t0003 a0001c0002t0019 a0001c0003t0001 others(3): Show a0001c0002t0003 a0001c0002t0019 a0001c0003t0001 a0001c0004t0001 a0001c0004t0003 a0001c0013t0003	a0001c0002t0003g0213 a0001c0002t0003g0357 a0001c0002t0019g0397 others(12): Show a0001c0002t0003g0213 a0001c0002t0003g0357 a0001c0002t0019g0397 a0001c0003t0001g0355 a0001c0004t0001g0393 a0001c0004t0003g0009 a0001c0004t0003g0042 a0001c0004t0003g0354 a0001c0004t0003g0377 a0001c0004t0003g0378 a0001c0004t0003g0379 a0001c0004t0003g0380 a0001c0004t0003g0381 a0001c0013t0003g0080 a0001c0013t0003g0233	16	410	0.0390	32	c.-22 others(49): Show c.-22-1944_-22-1943insCACGTCGCCTCCCCTCACGTCGTCGTCT CCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	551233	G G	GGGCCCCG others(25): Show GGGCCCCGGTCGGTGAGGGCCCCCTGTCGGTGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0001 a0004c0018t0001	a0004c0018t0001g0274 a0004c0018t0001g0274	1	410	0.0024	32	c.206 others(47): Show c.2067-67_2067-66insCCCCGGTCGGTGAGGGCCCCCTGTCGGTGA GG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN3_chr15_42354501_42417317	42380751	A A	ATATATAT others(25): Show ATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0281 a0001c0013t0001g0281	1	306	0.0033	32	c.310 others(49): Show c.310-3731_310-3730insATATATATATATATATATATATTTTTTT TTTT	CAPN3	ENSG00000092529.26	transcript	ENST00000397163.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
CAPN5_chr11_77061971_77131155	77074323	A A	ATCCCCAG others(25): Show ATCCCCAGCCCTGCAGAGCTGGTTCTGCCAGCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	382	0.0026	32	c.-36 others(49): Show c.-36+7235_-36+7266dupAGCCCTGCAGAGCTGGTTCTGCCAGCTT CCCC	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPN5_chr11_77061971_77131155	77098328	T T	TCCTCACT others(25): Show TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0208 a0001c0002t0007g0208	1	382	0.0026	32	c.297 others(49): Show c.297+4515_297+4516insCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAG	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12			chr11	TogoVar
CAPRIN1_chr11_34046731_34107610	34079905	G G	GTTTTTTG others(25): Show GTTTTTTGTTTTTTGTTTTTTGTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0015 a0001c0001t0007g0015	1	246	0.0041	32	c.826 others(47): Show c.826+146_826+147insGTTTTTTGTTTTTTGTTTTTTTTTTTTTTT TT	CAPRIN1	ENSG00000135387.21	transcript	ENST00000341394.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPZA2_chr7_116857587_116927049	116880696	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG04228.hp2 HG01978.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0195 a0001c0001t0002g0166 a0001c0001t0002g0195	2	354	0.0057	32	c.40- others(47): Show c.40-7424_40-7393dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116904969	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0305 a0001c0002t0004g0305	1	354	0.0028	32	c.426 others(47): Show c.426+606_426+607insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZB_chr1_19333775_19490539	19366283	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA19043.hp1 HG02109.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0287 a0001c0001t0001g0004 a0001c0001t0001g0287	2	364	0.0055	32	c.330 others(49): Show c.330-8721_330-8720insATATATATATATATATATATATATATAT ATAT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	4/8			chr1	TogoVar
CAPZB_chr1_19333775_19490539	19416860	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	364	0.0028	32	c.93+ others(47): Show c.93+2800_93+2801insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	2/8			chr1	TogoVar
CARD11_chr7_2901142_3048867	2984538	T T	TCCCTCCC others(25): Show TCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0242 a0001c0003t0001g0242	1	322	0.0031	32	c.-12 others(53): Show c.-125-25908_-125-25907insGGGAAGGGAGGGAGGGAGGGAGGG AGGGAGGG	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24			chr7	TogoVar
CARMIL1_chr6_25274374_25625530	25332787	A A	ACACGCAT others(25): Show ACACGCATACACACACACGCATACACACACACG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0133 a0001c0001t0008g0133	1	186	0.0054	32	c.138 others(51): Show c.138+47881_138+47882insGCATACACACACACGCATACACACAC ACGCAC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459210	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0018 a0001c0008t0001g0018	1	186	0.0054	32	c.615 others(49): Show c.615-6635_615-6604dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARNMT1_chr9_74975790_75033293	75021235	A A	AGTATATA others(25): Show AGTATATATACATAGTATATACATAGTATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	366	0.0027	32	c.231 others(49): Show c.231-3819_231-3788dupATATATACTATGTATATACTATGTATAT ATAC	CARNMT1	ENSG00000156017.13	transcript	ENST00000376834.8	protein_coding	1/7			chr9	TogoVar
CARS2_chr13_110636417_110711116	110649931	C C	CTGTTTTT others(25): Show CTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0306 a0001c0001t0002g0306	1	372	0.0027	32	c.105 others(51): Show c.1054+1102_1054+1103insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAACA	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	10/14			chr13	TogoVar
CARS2_chr13_110636417_110711116	110679034	T T	TAAAGGCT others(25): Show TAAAGGCTAGGACTTGCCACAGGGGAAAAGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(265): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0005 a0006 a0008 a0009 a0013 a0014 a0015 a0017	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0009 a0001c0025 a0001c0027 a0002c0004 a0002c0008 a0003c0024 a0003c0028 a0005c0010 a0006c0015 a0008c0013 a0009c0016 a0013c0029 a0014c0030 a0015c0022 a0017c0026	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0005t0001 a0001c0005t0002 a0001c0007t0001 a0001c0007t0002 a0001c0009t0002 a0001c0025t0001 a0001c0027t0001 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0008t0001 a0002c0008t0003 a0003c0024t0001 a0003c0028t0001 a0005c0010t0001 a0006c0015t0002 a0008c0013t0001 a0009c0016t0001 a0013c0029t0001 a0014c0030t0001 a0015c0022t0001 a0017c0026t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(245): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0257 a0001c0001t0001g0294 a0001c0001t0002g0074 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0145 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0313 a0001c0001t0002g0315 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0002t0001g0265 a0001c0002t0001g0279 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0003g0268 a0001c0002t0003g0269 a0001c0002t0003g0270 a0001c0003t0001g0018 a0001c0003t0001g0158 a0001c0003t0001g0219 a0001c0003t0001g0220 a0001c0003t0001g0234 a0001c0003t0001g0240 a0001c0003t0001g0247 a0001c0003t0001g0249 a0001c0003t0001g0250 a0001c0003t0001g0251 a0001c0003t0001g0290 a0001c0003t0001g0292 a0001c0003t0001g0297 a0001c0003t0001g0300 a0001c0003t0002g0006 a0001c0003t0002g0021 a0001c0003t0002g0022 a0001c0003t0002g0066 a0001c0003t0002g0283 a0001c0003t0002g0284 a0001c0003t0002g0285 a0001c0003t0002g0286 a0001c0003t0002g0287 a0001c0003t0002g0288 a0001c0003t0002g0289 a0001c0003t0002g0291 a0001c0003t0002g0293 a0001c0003t0002g0295 a0001c0003t0002g0296 a0001c0003t0002g0298 a0001c0003t0002g0299 a0001c0003t0002g0301 a0001c0003t0002g0304 a0001c0003t0002g0305 a0001c0003t0002g0309 a0001c0003t0002g0312 a0001c0003t0002g0314 a0001c0003t0002g0316 a0001c0003t0002g0319 a0001c0003t0002g0320 a0001c0005t0001g0002 a0001c0005t0001g0010 a0001c0005t0001g0014 a0001c0005t0001g0078 a0001c0005t0001g0092 a0001c0005t0001g0093 a0001c0005t0001g0133 a0001c0005t0001g0134 a0001c0005t0001g0136 a0001c0005t0001g0138 a0001c0005t0001g0140 a0001c0005t0001g0141 a0001c0005t0001g0150 a0001c0005t0001g0170 a0001c0005t0001g0171 a0001c0005t0001g0172 a0001c0005t0001g0173 a0001c0005t0001g0174 a0001c0005t0001g0177 a0001c0005t0001g0178 a0001c0005t0001g0232 a0001c0005t0001g0337 a0001c0005t0002g0135 a0001c0007t0001g0273 a0001c0007t0001g0274 a0001c0007t0001g0276 a0001c0007t0001g0277 a0001c0007t0001g0278 a0001c0007t0002g0275 a0001c0009t0002g0280 a0001c0009t0002g0281 a0001c0009t0002g0282 a0001c0025t0001g0111 a0001c0027t0001g0175 a0002c0004t0001g0007 a0002c0004t0001g0027 a0002c0004t0001g0028 a0002c0004t0001g0029 a0002c0004t0001g0030 a0002c0004t0001g0031 a0002c0004t0001g0032 a0002c0004t0001g0035 a0002c0004t0001g0036 a0002c0004t0001g0037 a0002c0004t0001g0038 a0002c0004t0001g0039 a0002c0004t0001g0040 a0002c0004t0001g0041 a0002c0004t0001g0042 a0002c0004t0001g0044 a0002c0004t0001g0045 a0002c0004t0001g0046 a0002c0004t0001g0047 a0002c0004t0001g0048 a0002c0004t0001g0049 a0002c0004t0001g0050 a0002c0004t0001g0051 a0002c0004t0001g0052 a0002c0004t0001g0053 a0002c0004t0001g0054 a0002c0004t0001g0055 a0002c0004t0001g0056 a0002c0004t0001g0057 a0002c0004t0001g0221 a0002c0004t0001g0222 a0002c0004t0001g0238 a0002c0004t0002g0043 a0002c0004t0002g0058 a0002c0004t0002g0241 a0002c0004t0003g0239 a0002c0004t0003g0302 a0002c0008t0001g0033 a0002c0008t0001g0034 a0002c0008t0001g0236 a0002c0008t0001g0237 a0002c0008t0003g0246 a0003c0024t0001g0148 a0003c0028t0001g0137 a0005c0010t0001g0100 a0005c0010t0001g0101 a0005c0010t0001g0107 a0006c0015t0002g0064 a0006c0015t0002g0065 a0008c0013t0001g0025 a0008c0013t0001g0026 a0009c0016t0001g0024 a0013c0029t0001g0176 a0014c0030t0001g0139 a0015c0022t0001g0112 a0017c0026t0001g0087	268	372	0.7204	32	c.656 others(49): Show c.656-1932_656-1931insTCCCTTTTCCCCTGTGGCAAGTCCTAGC CTTT	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14			chr13	TogoVar
CASC3_chr17_40135537_40177171	40140373	A A	AACACACA others(25): Show AACACACACACACACACCCCAACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0208 a0001c0001t0007g0208	1	266	0.0038	32	c.-17 others(41): Show c.-176_-175insACACACACACACACACCCCAACACACACACAC	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		163		chr17	TogoVar
CASP5_chr11_104989243_105028168	105009394	G G	GGTGTATT others(25): Show GGTGTATTTTCTTAGCTATTATGCTTTCTAATT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0024 a0024	a0024c0021 a0024c0021	a0024c0021t0001 a0024c0021t0001	a0024c0021t0001g0265 a0024c0021t0001g0265	1	396	0.0025	32	c.8-4 others(43): Show c.8-415_8-414insAATTAGAAAGCATAATAGCTAAGAAAATACAC	CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	1/9			chr11	TogoVar
CASR_chr3_122178668_122296629	122252407	G G	GTAGGAAG others(25): Show GTAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03516.hp1 HG03669.hp2 others(1): Show HG01361.hp1 HG03516.hp1 HG03669.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0014 a0001c0001t0003g0026 a0001c0001t0003g0123 others(1): Show a0001c0001t0003g0014 a0001c0001t0003g0026 a0001c0001t0003g0123 a0001c0001t0005g0182	4	314	0.0127	32	c.-24 others(51): Show c.-242-1541_-242-1540insTAGGAAGGAAAAAGAAAGAAAGAAAG AAAGAA	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAAAA others(25): Show AGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02735.hp2 HG02145.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0020 a0001c0001t0009g0028 a0001c0001t0001g0020 a0001c0001t0009g0028	2	314	0.0064	32	c.-24 others(51): Show c.-242-1539_-242-1538insGGAAAAAGAAAGAAAGAAAGAAAGAA AGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(25): Show AGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	314	0.0032	32	c.-24 others(51): Show c.-242-1539_-242-1538insGGAAGGAAGGAAAAAGAAAGAAAGAA AGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(25): Show AGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	314	0.0032	32	c.-24 others(51): Show c.-242-1539_-242-1538insGGAAGGAAGGAAGGAAAAAGAAAGAA AGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGT others(25): Show AGGAAGGTAGGAAGGAAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA19086.hp2 HG01069.hp2 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0024 a0002c0002t0002 a0001c0001t0024 a0002c0002t0002	a0001c0001t0024g0125 a0002c0002t0002g0262 a0001c0001t0024g0125 a0002c0002t0002g0262	2	314	0.0064	32	c.-24 others(51): Show c.-242-1539_-242-1538insGGAAGGTAGGAAGGAAAAAGAAAGAA AGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGTAGGA others(25): Show AGGTAGGAAGGAAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02257.hp1 NA21309.hp1 HG01516.hp1 HG02257.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0003 a0001c0001t0018	a0001c0001t0003g0105 a0001c0001t0003g0259 a0001c0001t0018g0011 a0001c0001t0003g0105 a0001c0001t0003g0259 a0001c0001t0018g0011	3	314	0.0096	32	c.-24 others(51): Show c.-242-1539_-242-1538insGGTAGGAAGGAAAAAGAAAGAAAGAA AGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASTOR2_chr7_74959705_75036528	74965882	A A	ACACACAC others(25): Show ACACACACACACACACACACACTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03453.hp1 HG01433.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0068 a0001c0001t0001 a0001c0001t0068	a0001c0001t0001g0044 a0001c0001t0068g0043 a0001c0001t0001g0044 a0001c0001t0068g0043	2	228	0.0088	32	c.113 others(47): Show c.113+785_113+786insACACACACACACACACACACTCTCTCTCTC TC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74965882	A A	ACACACAC others(25): Show ACACACACACACACACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03516.hp2 HG01109.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0051 a0001c0001t0008g0050 a0001c0001t0001g0051 a0001c0001t0008g0050	2	228	0.0088	32	c.113 others(47): Show c.113+785_113+786insACACACACACACACACACTCTCTCTCTCTC TC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74965882	A A	ACACACAC others(25): Show ACACACACACACACACACTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0058 a0001c0001t0014g0058	1	228	0.0044	32	c.113 others(47): Show c.113+785_113+786insACACACACACACACACTCTCTCTCTCTCTC TC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAST_chr5_96657376_96779683	96662320	G G	GCTCCCTC others(25): Show GCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01361.hp1 HG02451.hp2 others(9): Show HG01123.hp2 HG01361.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA19043.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0018 a0001c0021 others(2): Show a0001c0001 a0001c0018 a0001c0021 a0002c0004 a0004c0008	a0001c0001t0002 a0001c0001t0010 a0001c0018t0010 others(3): Show a0001c0001t0002 a0001c0001t0010 a0001c0018t0010 a0001c0021t0009 a0002c0004t0005 a0004c0008t0011	a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0010g0028 others(9): Show a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0010g0028 a0001c0001t0010g0038 a0001c0018t0010g0029 a0001c0021t0009g0035 a0002c0004t0005g0027 a0002c0004t0005g0030 a0002c0004t0005g0031 a0002c0004t0005g0032 a0002c0004t0005g0033 a0004c0008t0011g0037	12	358	0.0335	32	c.-10 others(41): Show c.-103_-102insCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCC	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding		55		chr5	TogoVar
CATIP_chr2_218351857_218373094	218357259	G G	GTCTCTCT others(25): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03130.hp2 HG01243.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0053 a0001c0001t0001g0054	2	366	0.0055	32	c.118 others(47): Show c.118+103_118+104insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CT	CATIP	ENSG00000158428.4	transcript	ENST00000289388.4	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CATSPER4_chr1_26185602_26207964	26206481	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02717.hp2 others(2): Show HG01070.hp2 HG01071.hp2 HG02717.hp2 HG03579.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0010 a0002c0002t0002g0146 a0002c0002t0002g0003 a0002c0002t0002g0010 a0002c0002t0002g0146	5	398	0.0126	32	c.39 others(43): Show c.3939_*3940insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding		3518		chr1	TogoVar
CATSPERB_chr14_91575698_91737086	91732601	A A	ACTAAGGC others(25): Show ACTAAGGCTGCCTTTGACTGAGTACCGAGTGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0023	1	271	0.0037	32	c.-70 others(41): Show c.-704_-673dupCTCACTCGGTACTCAGTCAAAGGCAGCCTTAG	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding		516		chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91736501	A A	AAAGGAAG others(25): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02647.hp1 HG02630.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0126 a0001c0001t0001g0116 a0001c0001t0001g0126	2	271	0.0074	32	c.-45 others(43): Show c.-4573_-4572insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding		4416		chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91736526	A A	AAGGAAGG others(25): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0115 a0001c0002t0002g0115	1	271	0.0037	32	c.-45 others(43): Show c.-4598_-4597insGCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding		4441		chr14	TogoVar
CATSPERD_chr19_5715637_5783734	5733305	C C	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	336	0.0030	32	c.277 others(47): Show c.277-550_277-549insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5733307	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp2 HG02922.hp1 HG02809.hp1 HG02809.hp2 HG02922.hp1	a0011 a0016 a0017 a0011 a0016 a0017	a0011c0008 a0016c0013 a0017c0014 a0011c0008 a0016c0013 a0017c0014	a0011c0008t0001 a0016c0013t0001 a0017c0014t0002 a0011c0008t0001 a0016c0013t0001 a0017c0014t0002	a0011c0008t0001g0012 a0016c0013t0001g0015 a0017c0014t0002g0011 a0011c0008t0001g0012 a0016c0013t0001g0015 a0017c0014t0002g0011	3	336	0.0089	32	c.277 others(47): Show c.277-521_277-520insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5750450	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0186 a0002c0002t0001g0186	1	336	0.0030	32	c.988 others(49): Show c.988-1174_988-1173insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	11/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0218 a0004c0003t0001g0218	1	336	0.0030	32	c.142 others(51): Show c.1428-1156_1428-1155insATATATATATATATATATATATATAT ATTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0109 a0003c0004t0001g0109	1	336	0.0030	32	c.142 others(51): Show c.1428-1156_1428-1155insATATATATATATATATATATATATTT TTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5782918	A A	AGCCCCCT others(25): Show AGCCCCCTCCCCATCCCCAAGGCCCCCACGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0218 a0004c0003t0001g0218	1	336	0.0030	32	c.42 others(43): Show c.4242_*4243insGCCCCCTCCCCATCCCCAAGGCCCCCACGTGG	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding		4185		chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATATATAT others(25): Show ATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0190 a0001c0003t0003g0190	1	206	0.0049	32	c.264 others(51): Show c.2648+7747_2648+7748insATATATATATATATATTTTTTTTTTT TTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	342	0.0029	32	c.195 others(49): Show c.195+7707_195+7708insATATATATATATATATATATATATTTTT TTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(25): Show ATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0285 a0001c0001t0003g0285	1	342	0.0029	32	c.195 others(49): Show c.195+7707_195+7708insATATATATATATATATATATATTTTTTT TTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV2_chr7_116494738_116513541	116498923	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG01884.hp1 HG01884.hp2 others(7): Show HG00544.hp1 HG01884.hp1 HG01884.hp2 HG02132.hp2 HG03831.hp2 NA18612.hp1 NA18961.hp1 NA18977.hp2 NA19003.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0039 a0001c0001t0001g0001 a0001c0001t0001g0039	10	374	0.0267	32	c.-85 others(41): Show c.-859_-858insACACACACACACACACACACACACACACACAC	CAV2	ENSG00000105971.15	transcript	ENST00000222693.5	protein_coding		814		chr7	TogoVar
CBFA2T2_chr20_33485096_33655030	33545439	C C	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02132.hp2 HG02809.hp1 others(4): Show HG01261.hp2 HG02132.hp2 HG02809.hp1 HG02809.hp2 HG03710.hp2 NA18522.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0003t0001 a0001c0010t0028	a0001c0001t0001g0241 a0001c0001t0001g0279 a0001c0001t0007g0067 others(4): Show a0001c0001t0001g0241 a0001c0001t0001g0279 a0001c0001t0007g0067 a0001c0001t0008g0002 a0001c0001t0008g0003 a0001c0003t0001g0260 a0001c0010t0028g0132	7	298	0.0235	32	c.34+ others(49): Show c.34+55141_34+55172dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTC	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33621287	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0004	1	298	0.0034	32	c.510 others(49): Show c.510+1707_510+1708insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBL_chr11_119201339_119313149	119264388	T T	TTTCTCTT others(25): Show TTTCTCTTCTCTTCTCTTCTCTTCTCTTTTCTC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0252 a0001c0001t0061g0252	1	364	0.0028	32	c.444 others(49): Show c.444-7320_444-7319insTTCTCTTCTCTTCTCTTCTCTTCTCTTC TCTT	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
CBX3_chr7_26196745_26218607	26208951	T T	TTTTTTTT others(25): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0164 a0001c0001t0007g0164	1	410	0.0024	32	c.330 others(47): Show c.330+396_330+397insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TC	CBX3	ENSG00000122565.19	transcript	ENST00000396386.7	protein_coding	4/5			chr7	TogoVar
CC2D1A_chr19_13901201_13935879	13926013	T T	TACGTATA others(25): Show TACGTATATATATGTGTATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0251 a0001c0002t0001g0251	1	370	0.0027	32	c.194 others(49): Show c.1941-489_1941-458dupGTATATATATATATATACACGTATATAT ATGT	CC2D1A	ENSG00000132024.18	transcript	ENST00000318003.11	protein_coding	17/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CC2D1A_chr19_13901201_13935879	13926045	C C	CGTATATA others(25): Show CGTATATATATGTGTATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp2 HG02451.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0294 a0001c0001t0001g0100 a0001c0001t0001g0294	2	370	0.0054	32	c.194 others(49): Show c.1941-472_1941-471insGTATATATATGTGTATATATATATATAT ATAT	CC2D1A	ENSG00000132024.18	transcript	ENST00000318003.11	protein_coding	17/28			chr19	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)