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
DIP2A_chr21_46453891_46575015	46464817	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0050 a0001c0008t0001g0050	1	374	0.0027	16	c.91+ others(31): Show c.91+5607_91+5622dupTTTTTTTTTTTTTTTT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46464844	T T	TTTTTTTT others(9): Show TTTTTTTTTTTTTTCCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02572.hp1 HG02559.hp2 HG02572.hp1	a0001 a0001	a0001c0006 a0001c0012 a0001c0006 a0001c0012	a0001c0006t0004 a0001c0012t0012 a0001c0006t0004 a0001c0012t0012	a0001c0006t0004g0170 a0001c0012t0012g0146 a0001c0006t0004g0170 a0001c0012t0012g0146	2	374	0.0054	16	c.91+ others(31): Show c.91+5622_91+5623insTTTTTTTTTTTTTCCC	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	1/37			chr21	TogoVar
DIP2A_chr21_46453891_46575015	46477543	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp1 HG00609.hp2 others(21): Show HG00140.hp2 HG00609.hp1 HG00609.hp2 HG01071.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01255.hp1 HG01257.hp1 HG02004.hp2 HG02056.hp1 HG02074.hp2 HG02109.hp1 HG02132.hp1 HG02683.hp2 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp2 HG04228.hp1 NA18961.hp1 NA19010.hp2 NA19078.hp1 NA19089.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0009c0028	a0001c0001t0002 a0001c0001t0013 a0001c0002t0001 others(6): Show a0001c0001t0002 a0001c0001t0013 a0001c0002t0001 a0001c0002t0009 a0001c0004t0001 a0001c0004t0002 a0001c0008t0001 a0001c0008t0002 a0009c0028t0009	a0001c0001t0002g0140 a0001c0001t0013g0137 a0001c0001t0013g0138 others(21): Show a0001c0001t0002g0140 a0001c0001t0013g0137 a0001c0001t0013g0138 a0001c0002t0001g0004 a0001c0002t0001g0025 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0009g0047 a0001c0004t0001g0058 a0001c0004t0001g0061 a0001c0004t0001g0074 a0001c0004t0001g0076 a0001c0004t0001g0104 a0001c0004t0002g0089 a0001c0008t0001g0073 a0001c0008t0002g0024 a0001c0008t0002g0102 a0009c0028t0009g0098	24	374	0.0642	16	c.92- others(31): Show c.92-7204_92-7189dupGTGTGTGTGTGTGTGT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46495244	T T	TTCTCTCT others(9): Show TTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG03491.hp1 others(2): Show HG01070.hp1 HG01071.hp1 HG03491.hp1 NA19065.hp1 NA19077.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0022 a0001c0003 a0001c0007 a0001c0022	a0001c0003t0003 a0001c0007t0005 a0001c0022t0001 a0001c0003t0003 a0001c0007t0005 a0001c0022t0001	a0001c0003t0003g0294 a0001c0003t0003g0315 a0001c0007t0005g0155 others(2): Show a0001c0003t0003g0294 a0001c0003t0003g0315 a0001c0007t0005g0155 a0001c0007t0005g0156 a0001c0022t0001g0176	5	374	0.0134	16	c.284 others(33): Show c.284-1724_284-1709dupCTCTCTCTCTCTCTCT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46503571	T T	TCTTCCTT others(9): Show TCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02040.hp2 HG02257.hp2 others(7): Show HG00735.hp1 HG02040.hp2 HG02257.hp2 HG02622.hp1 HG02630.hp2 HG02698.hp2 HG03490.hp1 NA18953.hp1 NA18971.hp1 NA19065.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0006 others(2): Show a0001c0003 a0001c0005 a0001c0006 a0001c0010 a0001c0013	a0001c0003t0003 a0001c0005t0003 a0001c0006t0007 others(3): Show a0001c0003t0003 a0001c0005t0003 a0001c0006t0007 a0001c0010t0003 a0001c0010t0010 a0001c0013t0015	a0001c0003t0003g0315 a0001c0003t0003g0344 a0001c0003t0003g0359 others(7): Show a0001c0003t0003g0315 a0001c0003t0003g0344 a0001c0003t0003g0359 a0001c0003t0003g0364 a0001c0005t0003g0313 a0001c0006t0007g0143 a0001c0006t0007g0171 a0001c0010t0003g0317 a0001c0010t0010g0339 a0001c0013t0015g0148	10	374	0.0267	16	c.656 others(31): Show c.656-762_656-747dupCCTTCCTTCCTTCCTT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46573645	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1 HG02895.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0009 a0001c0007 a0002c0009	a0001c0007t0005 a0002c0009t0006 a0001c0007t0005 a0002c0009t0006	a0001c0007t0005g0153 a0001c0007t0005g0154 a0002c0009t0006g0191 a0001c0007t0005g0153 a0001c0007t0005g0154 a0002c0009t0006g0191	3	374	0.0080	16	c.60 others(27): Show c.6023_*6024insAAAAAAAAAAAAAAAA	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding		3631		chr21	TogoVar
DIP2B_chr12_50499985_50753657	50536271	G G	GCATACAT others(9): Show GCATACATACATACATA	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA19070.hp1 HG02074.hp2 NA19070.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0054 a0001c0003t0002g0055 a0001c0003t0002g0054 a0001c0003t0002g0055	2	284	0.0070	16	c.100 others(35): Show c.100+31053_100+31068dupATACATACATACATAC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50537114	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01255.hp2 HG01515.hp2 others(2): Show HG00673.hp2 HG01255.hp2 HG01515.hp2 HG02698.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0154 others(2): Show a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0154 a0001c0001t0001g0167 a0001c0001t0001g0177	5	284	0.0176	16	c.100 others(35): Show c.100+31886_100+31901dupTTTTTTTTTTTTTTTT	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50559709	C C	CCACACAC others(9): Show CCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02145.hp1 HG02280.hp2 others(4): Show HG01975.hp2 HG02145.hp1 HG02280.hp2 NA18522.hp1 NA18953.hp1 NA18955.hp2 NA18969.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0016 a0001c0002 a0005c0016	a0001c0002t0004 a0005c0016t0004 a0001c0002t0004 a0005c0016t0004	a0001c0002t0004g0211 a0001c0002t0004g0216 a0001c0002t0004g0229 others(4): Show a0001c0002t0004g0211 a0001c0002t0004g0216 a0001c0002t0004g0229 a0001c0002t0004g0234 a0001c0002t0004g0258 a0001c0002t0004g0272 a0005c0016t0004g0215	7	284	0.0247	16	c.100 others(35): Show c.100+54490_100+54505dupCACACACACACACACA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50598824	T T	TCTCCCCT others(9): Show TCTCCCCTCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0139 a0001c0001t0035g0139	1	284	0.0035	16	c.101 others(35): Show c.101-27146_101-27145insTCCCCTCCCCCTCCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50663555	C C	CAAATAAA others(9): Show CAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01074.hp1 HG01081.hp2 others(29): Show HG00741.hp1 HG01074.hp1 HG01081.hp2 HG02055.hp2 HG02071.hp1 HG02083.hp1 HG02258.hp1 HG02258.hp2 HG02559.hp1 HG02630.hp1 HG02647.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03516.hp2 HG03831.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18953.hp1 NA19043.hp2 NA19079.hp1 NA20300.hp1 NA20905.hp1 NA21309.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0013 a0001c0019 a0003c0007 a0007c0018	a0001c0001t0001 a0001c0001t0007 a0001c0002t0003 others(7): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0003 a0001c0002t0004 a0001c0003t0002 a0001c0006t0009 a0001c0013t0003 a0001c0019t0038 a0003c0007t0017 a0007c0018t0001	a0001c0001t0001g0142 a0001c0001t0001g0155 a0001c0001t0001g0158 others(29): Show a0001c0001t0001g0142 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0007g0005 a0001c0001t0007g0006 a0001c0001t0007g0008 a0001c0001t0007g0009 a0001c0001t0007g0011 a0001c0002t0003g0187 a0001c0002t0003g0206 a0001c0002t0003g0207 a0001c0002t0003g0254 a0001c0002t0004g0010 a0001c0002t0004g0111 a0001c0002t0004g0209 a0001c0002t0004g0230 a0001c0002t0004g0235 a0001c0002t0004g0272 a0001c0003t0002g0012 a0001c0003t0002g0013 a0001c0006t0009g0192 a0001c0006t0009g0193 a0001c0006t0009g0194 a0001c0006t0009g0195 a0001c0013t0003g0204 a0001c0019t0038g0190 a0003c0007t0017g0093 a0003c0007t0017g0094 a0007c0018t0001g0179	32	284	0.1127	16	c.427 others(33): Show c.427+3248_427+3263dupTAAATAAATAAATAAA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50663555	C C	CAGATAAA others(9): Show CAGATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0104 a0001c0001t0006g0104	1	284	0.0035	16	c.427 others(33): Show c.427+3237_427+3238insGATAAATAAATAAATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50716958	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01081.hp1 HG02015.hp2 others(5): Show HG00733.hp1 HG01081.hp1 HG02015.hp2 HG02055.hp1 HG02257.hp2 HG02258.hp2 HG02976.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0008 a0001c0001 a0001c0006 a0001c0008	a0001c0001t0001 a0001c0001t0008 a0001c0006t0009 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0006t0009 a0001c0008t0008	a0001c0001t0001g0035 a0001c0001t0001g0122 a0001c0001t0001g0123 others(5): Show a0001c0001t0001g0035 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0008g0182 a0001c0001t0008g0261 a0001c0006t0009g0192 a0001c0006t0009g0194 a0001c0008t0008g0260	8	284	0.0282	16	c.285 others(35): Show c.2852-1743_2852-1728dupTTTTTTTTTTTTTTTT	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	23/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	337049	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02132.hp1 HG01952.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0067 a0001c0002t0003g0036 a0001c0002t0002g0067 a0001c0002t0003g0036	2	88	0.0227	16	c.358 others(35): Show c.3584+4134_3584+4149dupACACACACACACACAC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	29/36			chr10	TogoVar
DIP2C_chr10_269201_694668	414739	G G	GTGTGTAT others(9): Show GTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0029 a0001c0002t0003g0029	1	88	0.0114	16	c.860 others(31): Show c.860-630_860-629insTATATATATATACACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	7/36			chr10	TogoVar
DIP2C_chr10_269201_694668	414739	G G	GTGTGTGT others(9): Show GTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02922.hp2 HG03130.hp2 others(1): Show HG00738.hp2 HG02922.hp2 HG03130.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0010 a0001c0002 a0001c0007 a0001c0010	a0001c0002t0003 a0001c0007t0007 a0001c0010t0002 a0001c0002t0003 a0001c0007t0007 a0001c0010t0002	a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0007t0007g0060 others(1): Show a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0007t0007g0060 a0001c0010t0002g0001	4	88	0.0455	16	c.860 others(31): Show c.860-630_860-629insTATATATATACACACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	7/36			chr10	TogoVar
DIP2C_chr10_269201_694668	477536	A A	AAGGAGGG others(9): Show AAGGAGGGGGGCACAGG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0016 a0001c0005t0002g0016	1	88	0.0114	16	c.158 others(33): Show c.158-4988_158-4987insCCTGTGCCCCCCTCCT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	516725	G G	GGGGGACG others(9): Show GGGGGACGGGGTAGGGT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0081 a0001c0021t0002g0081	1	88	0.0114	16	c.86- others(33): Show c.86-30196_86-30195insACCCTACCCCGTCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	557901	C C	CAGGCAGG others(9): Show CAGGCAGGCAGGGGGAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01099.hp2 HG01258.hp1 others(14): Show HG00597.hp2 HG01099.hp2 HG01258.hp1 HG01952.hp2 HG02004.hp2 HG02027.hp1 HG02155.hp1 HG02165.hp2 HG02809.hp2 HG03225.hp2 HG03453.hp1 HG03942.hp2 NA18747.hp2 NA18970.hp2 NA19007.hp2 NA19074.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0015 a0001c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0003t0002 a0001c0004t0001 a0001c0005t0002 a0001c0008t0001 a0001c0015t0002 a0001c0019t0006	a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0003g0012 others(14): Show a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0003g0012 a0001c0001t0004g0015 a0001c0001t0005g0024 a0001c0001t0010g0020 a0001c0003t0002g0021 a0001c0004t0001g0068 a0001c0004t0001g0084 a0001c0004t0001g0086 a0001c0005t0002g0016 a0001c0005t0002g0017 a0001c0005t0002g0087 a0001c0008t0001g0018 a0001c0008t0001g0019 a0001c0015t0002g0083 a0001c0019t0006g0014	17	88	0.1932	16	c.86- others(33): Show c.86-71372_86-71371insCTCCCCCTGCCTGCCT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	565354	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	88	0.0114	16	c.86- others(33): Show c.86-78840_86-78825dupTTTTTTTTTTTTTTTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608241	C C	CCACACAC others(9): Show CCACACACAGCCCCCCA	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18906.hp1 HG02922.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0002t0003g0005 a0001c0002t0003g0006	2	88	0.0227	16	c.85+ others(33): Show c.85+81252_85+81253insTGGGGGGCTGTGTGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608577	C C	CCCCCCCA others(9): Show CCCCCCCACACACACAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0088 a0001c0011t0003g0088	1	88	0.0114	16	c.85+ others(33): Show c.85+80916_85+80917insATGTGTGTGTGGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608677	C C	CCCCCCCA others(9): Show CCCCCCCACACACACAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18962.hp1 HG00597.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0002 a0001c0001t0001 a0001c0005t0002	a0001c0001t0001g0023 a0001c0005t0002g0016 a0001c0001t0001g0023 a0001c0005t0002g0016	2	88	0.0227	16	c.85+ others(33): Show c.85+80816_85+80817insATGTGTGTGTGGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	674771	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02602.hp1 NA18962.hp2 HG02040.hp2 HG02602.hp1 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0020 a0001c0002 a0001c0020	a0001c0002t0001 a0001c0002t0002 a0001c0020t0008 a0001c0002t0001 a0001c0002t0002 a0001c0020t0008	a0001c0002t0001g0056 a0001c0002t0002g0055 a0001c0020t0008g0074 a0001c0002t0001g0056 a0001c0002t0002g0055 a0001c0020t0008g0074	3	88	0.0341	16	c.85+ others(33): Show c.85+14707_85+14722dupATATATATATATATAT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	689960	C C	CGCGCGGG others(9): Show CGCGCGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0054 a0001c0003t0002g0054	1	88	0.0114	16	c.-38 others(25): Show c.-383_-382insCCCCCCCCCCCCGCGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding		293		chr10	TogoVar
DIP2C_chr10_269201_694668	689964	C C	CGGGGGGG others(9): Show CGGGGGGGGGGGGCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	88	0.0114	16	c.-38 others(25): Show c.-387_-386insCGCGCCCCCCCCCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding		297		chr10	TogoVar
DIPK1A_chr1_92837167_92966462	92860646	A A	AAAAAAAT others(9): Show AAAAAAATAGCCAGGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00639.hp2 others(25): Show HG00099.hp1 HG00140.hp2 HG00639.hp2 HG01071.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01346.hp1 HG01516.hp2 HG02055.hp1 HG02300.hp2 HG02559.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02896.hp1 HG03195.hp1 HG03579.hp2 HG03710.hp1 HG04115.hp1 HG04184.hp2 HG04204.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 others(25): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0072 a0001c0001t0002g0090 a0001c0001t0007g0190	28	200	0.1400	16	c.190 others(33): Show c.190-9692_190-9691insCACCTGGCTATTTTTT	DIPK1A	ENSG00000154511.12	transcript	ENST00000370310.5	protein_coding	2/4			chr1	TogoVar
DIPK1A_chr1_92837167_92966462	92959902	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02896.hp1 HG01516.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0021 a0001c0001t0002g0022	2	200	0.0100	16	c.54+ others(31): Show c.54+1473_54+1474insAAAAAAAAAAAAAAAA	DIPK1A	ENSG00000154511.12	transcript	ENST00000370310.5	protein_coding	1/4			chr1	TogoVar
DIPK1A_chr1_92837167_92966462	92959903	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03209.hp2 HG03041.hp1 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0081 a0001c0002t0002g0082	2	200	0.0100	16	c.54+ others(31): Show c.54+1457_54+1472dupAAAAAAAAAAAAAAAA	DIPK1A	ENSG00000154511.12	transcript	ENST00000370310.5	protein_coding	1/4			chr1	TogoVar
DIPK1C_chr18_74429775_74462308	74461344	T T	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02630.hp1 HG02976.hp2 others(1): Show HG02622.hp1 HG02630.hp1 HG02976.hp2 NA18995.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0003 a0001c0001t0011 a0004c0004t0004 a0001c0001t0003 a0001c0001t0011 a0004c0004t0004	a0001c0001t0003g0142 a0001c0001t0011g0092 a0001c0001t0011g0130 others(1): Show a0001c0001t0003g0142 a0001c0001t0011g0092 a0001c0001t0011g0130 a0004c0004t0004g0086	4	484	0.0083	16	c.-40 others(27): Show c.-4086_-4085insGGAAGGAAGGAAGGAA	DIPK1C	ENSG00000187773.9	transcript	ENST00000343998.8	protein_coding		4037		chr18	TogoVar
DIPK2A_chr3_143966823_143997368	143967802	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(21): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG01106.hp2 HG01168.hp2 HG01243.hp1 HG01884.hp1 HG02109.hp1 HG02257.hp1 HG02559.hp2 HG02895.hp1 HG02970.hp2 HG03098.hp1 HG03195.hp2 HG03453.hp1 HG03669.hp1 HG03704.hp1 HG04115.hp2 NA18522.hp1 NA18948.hp2 NA18999.hp2 NA19043.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0002t0002 a0001c0002t0009 a0001c0002t0024 a0001c0002t0026	a0001c0001t0001g0243 a0001c0001t0002g0012 a0001c0001t0002g0038 others(20): Show a0001c0001t0001g0243 a0001c0001t0002g0012 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0151 a0001c0001t0002g0179 a0001c0001t0002g0192 a0001c0001t0010g0006 a0001c0001t0010g0007 a0001c0002t0002g0020 a0001c0002t0002g0148 a0001c0002t0002g0204 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0215 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0252 a0001c0002t0009g0048 a0001c0002t0009g0227 a0001c0002t0024g0211 a0001c0002t0026g0048	24	408	0.0588	16	c.-45 others(27): Show c.-4531_-4530insTTTTTTTTTTTTTTTT	DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding		4020		chr3	TogoVar
DIPK2A_chr3_143966823_143997368	143976584	G G	GAGAGAGA others(9): Show GAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03225.hp2 HG04184.hp2 others(1): Show HG02145.hp1 HG03225.hp2 HG04184.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009	a0001c0001t0002g0191 a0001c0001t0005g0242 a0001c0001t0007g0265 others(1): Show a0001c0001t0002g0191 a0001c0001t0005g0242 a0001c0001t0007g0265 a0001c0001t0009g0232	4	408	0.0098	16	c.657 others(33): Show c.657+3596_657+3597insGAGAGAGAGAGAGAAA	DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DIPK2B_chrX_45143373_45205876	45154278	C C	CCTATCTA others(9): Show CCTATCTATCTATCTAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0204	1	307	0.0033	16	c.673 others(29): Show c.673-96_673-81dupATAGATAGATAGATAG	DIPK2B	ENSG00000147113.17	transcript	ENST00000398000.7	protein_coding	3/4			chrX	TogoVar
DIPK2B_chrX_45143373_45205876	45155961	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02630.hp2 HG01167.hp1 HG01169.hp2 HG02630.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0006 a0002c0002 a0006c0006	a0002c0002t0013 a0006c0006t0013 a0002c0002t0013 a0006c0006t0013	a0002c0002t0013g0247 a0006c0006t0013g0016 a0002c0002t0013g0247 a0006c0006t0013g0016	3	307	0.0098	16	c.672 others(33): Show c.672+1738_672+1753dupAAAAAAAAAAAAAAAA	DIPK2B	ENSG00000147113.17	transcript	ENST00000398000.7	protein_coding	3/4			chrX	TogoVar
DIRAS1_chr19_2709567_2726372	2713652	C C	CTCACTTC others(9): Show CTCACTTCCTACACCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02257.hp1 HG01243.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0016 a0001c0001t0014g0016	2	412	0.0049	16	c.35 others(27): Show c.3557_*3558insTAGGTGTAGGAAGTGA	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		914		chr19	TogoVar
DIRAS3_chr1_68040962_68055627	68048049	A A	AAAAAATA others(9): Show AAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	376	0.0027	16	c.-65 others(31): Show c.-65-688_-65-687insATATATATATATTTTT	DIRAS3	ENSG00000162595.8	transcript	ENST00000646789.1	protein_coding	1/1			chr1	TogoVar
DIRAS3_chr1_68040962_68055627	68048049	A A	AAAATATA others(9): Show AAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG03471.hp1 NA18989.hp2 HG02148.hp1 HG03471.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0105 a0001c0001t0001g0037 a0001c0001t0001g0105	3	376	0.0080	16	c.-65 others(31): Show c.-65-688_-65-687insATATATATATATATTT	DIRAS3	ENSG00000162595.8	transcript	ENST00000646789.1	protein_coding	1/1			chr1	TogoVar
DIS3L2_chr2_231956713_232342192	231960436	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	304	0.0033	16	c.-14 others(27): Show c.-1423_-1422insAAAAAAAAAAAGAGAG	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding		1276		chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232072783	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	304	0.0033	16	c.367 others(35): Show c.367-14683_367-14668dupGTGTGTGTGTGTGTGT	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232166072	C C	CAATAAAT others(9): Show CAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19000.hp2 NA19068.hp1 NA18971.hp1 NA19000.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0095 a0001c0001t0001g0124 a0001c0001t0001g0072 a0001c0001t0001g0095 a0001c0001t0001g0124	3	304	0.0099	16	c.112 others(35): Show c.1124+2471_1124+2486dupTAAATAAATAAATAAA	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	9/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232222307	T T	TCACAGGG others(9): Show TCACAGGGCATTCCAAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0009	1	304	0.0033	16	c.120 others(37): Show c.1204+11903_1204+11904insACAGGGCATTCCAACC	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232222307	T T	TCAGAGGG others(9): Show TCAGAGGGCATTCCAAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00423.hp2 others(116): Show HG00140.hp2 HG00323.hp1 HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00741.hp1 HG01070.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp2 HG02258.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02622.hp2 HG02647.hp2 HG02735.hp2 HG02895.hp2 HG02896.hp1 HG02976.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18522.hp2 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18971.hp2 NA18974.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18986.hp2 NA18992.hp2 NA18994.hp2 NA19000.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19087.hp1 NA19087.hp2 NA19091.hp2 NA20905.hp1 NA20905.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0014 a0001c0018 a0003c0007 a0005c0015	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0003t0001 a0001c0009t0001 a0001c0014t0001 a0001c0018t0001 a0003c0007t0003 a0005c0015t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(116): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0056 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0164 a0001c0001t0001g0224 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0300 a0001c0001t0004g0008 a0001c0001t0004g0010 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0024 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0042 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0076 a0001c0002t0001g0131 a0001c0002t0001g0180 a0001c0002t0001g0199 a0001c0002t0001g0227 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0270 a0001c0002t0001g0275 a0001c0002t0001g0295 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0301 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0003t0001g0159 a0001c0009t0001g0041 a0001c0014t0001g0025 a0001c0018t0001g0006 a0003c0007t0003g0302 a0005c0015t0001g0026	119	304	0.3915	16	c.120 others(37): Show c.1204+11903_1204+11904insAGAGGGCATTCCAACC	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232270860	G G	GTCCCTCT others(9): Show GTCCCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18939.hp2 HG00544.hp2 NA18939.hp2	a0001 a0001	a0001c0002 a0001c0016 a0001c0002 a0001c0016	a0001c0002t0001 a0001c0016t0001 a0001c0002t0001 a0001c0016t0001	a0001c0002t0001g0253 a0001c0016t0001g0079 a0001c0002t0001g0253 a0001c0016t0001g0079	2	304	0.0066	16	c.165 others(35): Show c.1659+7422_1659+7423insCCTCTCTCTCTCTCTC	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	13/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232270860	G G	GTCTCTCT others(9): Show GTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA19000.hp1 HG00423.hp2 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0051 a0001c0002t0001g0036 a0001c0002t0001g0051	2	304	0.0066	16	c.165 others(35): Show c.1659+7460_1659+7475dupCTCTCTCTCTCTCTCT	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	13/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232276448	C C	CTCCTGGC others(9): Show CTCCTGGCTGCCTAGTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0006 a0001c0018t0001g0006	1	304	0.0033	16	c.165 others(37): Show c.1659+13018_1659+13033dupCCTAGTTTCCTGGCTG	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	13/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0140 a0001c0003t0004g0140	1	400	0.0025	16	c.558 others(31): Show c.558+251_558+252insAAAAAAAAAAAATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DISC1_chr1_231621790_232046272	231798113	C C	CCACACAC others(9): Show CCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp2 HG02273.hp1 others(7): Show HG01261.hp1 HG01261.hp2 HG02273.hp1 HG02273.hp2 HG02559.hp2 HG02922.hp2 NA18522.hp1 NA18522.hp2 NA18960.hp2 NA18983.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0003 others(3): Show a0001c0001 a0001c0005 a0002c0003 a0002c0004 a0003c0002 a0003c0007	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(7): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0016 a0001c0005t0006 a0002c0003t0019 a0002c0004t0003 a0003c0002t0005 a0003c0007t0001	a0001c0001t0001g0032 a0001c0001t0007g0013 a0001c0001t0008g0037 others(7): Show a0001c0001t0001g0032 a0001c0001t0007g0013 a0001c0001t0008g0037 a0001c0001t0014g0002 a0001c0001t0016g0040 a0001c0005t0006g0033 a0002c0003t0019g0005 a0002c0004t0003g0026 a0003c0002t0005g0019 a0003c0007t0001g0031	10	40	0.2500	16	c.169 others(35): Show c.1690-1988_1690-1973dupCACACACACACACACA	DISC1	ENSG00000162946.24	transcript	ENST00000439617.8	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISC1_chr1_231621790_232046272	231907131	C C	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18971.hp2 NA18522.hp1 NA18971.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0003c0002 a0001c0005 a0003c0002	a0001c0005t0011 a0003c0002t0005 a0001c0005t0011 a0003c0002t0005	a0001c0005t0011g0023 a0003c0002t0005g0019 a0001c0005t0011g0023 a0003c0002t0005g0019	2	40	0.0500	16	c.198 others(37): Show c.1982-51673_1982-51658dupTTCTTTCTTTCTTTCT	DISC1	ENSG00000162946.24	transcript	ENST00000439617.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISC1_chr1_231621790_232046272	232004992	T T	TCTTCTTT others(9): Show TCTTCTTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03130.hp1 HG03130.hp2 others(3): Show HG02559.hp2 HG03130.hp1 HG03130.hp2 NA18522.hp2 NA18960.hp1 NA18971.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0005 a0001c0012 others(2): Show a0001c0001 a0001c0005 a0001c0012 a0002c0003 a0004c0006	a0001c0001t0010 a0001c0005t0006 a0001c0005t0011 others(3): Show a0001c0001t0010 a0001c0005t0006 a0001c0005t0011 a0001c0012t0017 a0002c0003t0019 a0004c0006t0001	a0001c0001t0010g0024 a0001c0005t0006g0033 a0001c0005t0011g0023 others(3): Show a0001c0001t0010g0024 a0001c0005t0006g0033 a0001c0005t0011g0023 a0001c0012t0017g0039 a0002c0003t0019g0005 a0004c0006t0001g0034	6	40	0.1500	16	c.204 others(35): Show c.2043-3788_2043-3773dupTTTCCTTCCTTCCTTC	DISC1	ENSG00000162946.24	transcript	ENST00000439617.8	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP3_chr1_11474155_11542551	11533736	T T	TGCACACA others(9): Show TGCACACACGCACGCAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02809.hp2 HG02818.hp1 others(6): Show HG02622.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG03041.hp2 HG03453.hp1 HG03579.hp2 NA18522.hp1	a0001 a0004 a0015 a0001 a0004 a0015	a0001c0001 a0001c0044 a0004c0010 others(2): Show a0001c0001 a0001c0044 a0004c0010 a0004c0015 a0015c0053	a0001c0001t0007 a0001c0044t0005 a0004c0010t0007 others(2): Show a0001c0001t0007 a0001c0044t0005 a0004c0010t0007 a0004c0015t0004 a0015c0053t0007	a0001c0001t0007g0011 a0001c0044t0005g0117 a0004c0010t0007g0335 others(5): Show a0001c0001t0007g0011 a0001c0044t0005g0117 a0004c0010t0007g0335 a0004c0010t0007g0336 a0004c0010t0007g0337 a0004c0010t0007g0338 a0004c0015t0004g0321 a0015c0053t0007g0300	9	358	0.0251	16	c.337 others(33): Show c.3376-637_3376-636insGCACGCACGCACACAC	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)