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.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GRM8_chr7_126433598_127257941	127091422	GACTGGTC others(19): Show GACTGGTCATCCCCCCACCACCATCCC	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0005 a0001c0004t0004g0005	1	108	0.0093	-26	c.727 others(45): Show c.727+15048_727+15073delGGGATGGTGGTGGGGGGATGACCAGT		GRM8	ENSG00000179603.19	transcript	ENST00000339582.7	protein_coding	3/10						chr7	TogoVar
GRTP1_chr13_113319163_113369130	113322760	CTCTCTGA others(19): Show CTCTCTGAGGGGGTGGGGGTGCCGCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG03195.hp2 HG01884.hp1 HG03195.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0012 a0001c0001 a0008c0012	a0001c0001t0003 a0008c0012t0003 a0001c0001t0003 a0008c0012t0003	a0001c0001t0003g0033 a0008c0012t0003g0268 a0001c0001t0003g0033 a0008c0012t0003g0268	2	288	0.0069	-26	c.17 others(37): Show c.1702_*1727delAAGCGGCACCCCCACCCCCTCAGAGA		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding					1402		chr13	TogoVar
GRTP1_chr13_113319163_113369130	113322786	TTCTCTGA others(19): Show TTCTCTGAGGGGGTGGGGGTGCCGCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	288	0.0035	-26	c.16 others(37): Show c.1676_*1701delGAGCGGCACCCCCACCCCCTCAGAGA		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding					1376		chr13	TogoVar
GRTP1_chr13_113319163_113369130	113352298	ATATTTTA others(19): Show ATATTTTATATATATTTTATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00423.hp1 others(96): Show HG00140.hp1 HG00323.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01243.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01891.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02129.hp1 HG02132.hp2 HG02148.hp2 HG02273.hp1 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02602.hp1 HG02735.hp2 HG02886.hp2 HG02922.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18963.hp1 NA18967.hp2 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18992.hp2 NA18995.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19030.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp1 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0006 a0012 a0013	a0001c0001 a0003c0004 a0004c0003 others(4): Show a0001c0001 a0003c0004 a0004c0003 a0005c0007 a0006c0006 a0012c0008 a0013c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0003c0004t0001 a0004c0003t0001 a0004c0003t0002 a0005c0007t0001 a0006c0006t0007 a0012c0008t0001 a0013c0013t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0043 others(96): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0002g0006 a0001c0001t0002g0066 a0001c0001t0002g0073 a0001c0001t0002g0080 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0117 a0001c0001t0002g0168 a0001c0001t0003g0039 a0001c0001t0003g0042 a0001c0001t0003g0136 a0001c0001t0003g0158 a0001c0001t0003g0162 a0001c0001t0003g0164 a0001c0001t0003g0171 a0001c0001t0003g0175 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0172 a0001c0001t0004g0174 a0001c0001t0008g0286 a0003c0004t0001g0062 a0003c0004t0001g0132 a0004c0003t0001g0005 a0004c0003t0002g0003 a0004c0003t0002g0004 a0005c0007t0001g0124 a0005c0007t0001g0125 a0006c0006t0007g0161 a0012c0008t0001g0054 a0013c0013t0001g0052	99	288	0.3438	-26	c.341 others(43): Show c.341-1351_341-1326delAATATATATAAAATATATATAAAATA		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	3/7						chr13	TogoVar
GRXCR1_chr4_42887713_43035658	42932603	TATATATA others(19): Show TATATATATATATATATAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	338	0.0030	-26	c.385 others(45): Show c.385-30287_385-30262delTATATATATATATATAGAGAGAGAGA		GRXCR1	ENSG00000215203.3	transcript	ENST00000399770.3	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr4	TogoVar
GSDME_chr7_24693355_24762464	24744984	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0075	1	410	0.0024	-26	c.212 others(41): Show c.212-256_212-231delACACACACACACACACACACACACAC		GSDME	ENSG00000105928.16	transcript	ENST00000645220.1	protein_coding	2/9						chr7	TogoVar
GSE1_chr16_85608322_85681200	85673531	CATTAAAA others(19): Show CATTAAAATATTGAAGTGTTTTTAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0014 a0001c0001t0043g0014	1	290	0.0035	-26	c.99 others(36): Show c.999_*1024delATATTGAAGTGTTTTTAAAAATTAAA		GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	16/16				999	INFO_REALIGN_3_PRIME	chr16	TogoVar
GSG1L_chr16_27782528_28068714	27803778	TATATATA others(19): Show TATATATATATATATATAGATAGATAG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0058 a0001c0001t0018g0058	1	240	0.0042	-26	c.898 others(43): Show c.898+3683_898+3708delCTATCTATCTATATATATATATATAT		GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	6/6						chr16	TogoVar
GSG1L_chr16_27782528_28068714	27865550	TATATATA others(19): Show TATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG00621.hp2 others(7): Show HG00544.hp1 HG00609.hp2 HG00621.hp2 HG01071.hp2 HG02027.hp2 HG02698.hp2 HG03654.hp1 NA18962.hp1 NA18994.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0025	a0001c0001t0001g0091 a0001c0001t0001g0207 a0001c0001t0002g0063 others(7): Show a0001c0001t0001g0091 a0001c0001t0001g0207 a0001c0001t0002g0063 a0001c0001t0003g0086 a0001c0001t0003g0184 a0001c0002t0001g0030 a0001c0002t0001g0044 a0001c0002t0001g0066 a0001c0002t0001g0088 a0001c0002t0025g0002	10	240	0.0417	-26	c.550 others(45): Show c.550+18910_550+18935delGTGTATATATATATATATATATATAT		GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	3/6						chr16	TogoVar
GSG1L_chr16_27782528_28068714	27865552	TATATATA others(19): Show TATATATATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00733.hp2 HG01175.hp1 others(24): Show HG00544.hp2 HG00733.hp2 HG01175.hp1 HG02055.hp2 HG02165.hp1 HG02293.hp1 HG02523.hp1 HG02809.hp2 HG02922.hp2 HG03130.hp2 HG03139.hp1 HG03540.hp2 HG03688.hp2 HG03710.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18952.hp2 NA18962.hp2 NA18983.hp1 NA18998.hp2 NA19082.hp2 NA19084.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0020 a0001c0001t0031 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0001c0002t0032 a0001c0002t0043 a0002c0003t0003	a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0001g0070 others(24): Show a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0001g0070 a0001c0001t0001g0181 a0001c0001t0002g0047 a0001c0001t0002g0191 a0001c0001t0002g0220 a0001c0001t0003g0120 a0001c0001t0003g0140 a0001c0001t0003g0155 a0001c0001t0004g0138 a0001c0001t0004g0227 a0001c0001t0005g0029 a0001c0001t0005g0055 a0001c0001t0007g0109 a0001c0001t0008g0219 a0001c0001t0020g0187 a0001c0001t0031g0141 a0001c0002t0001g0028 a0001c0002t0001g0095 a0001c0002t0001g0194 a0001c0002t0002g0171 a0001c0002t0003g0118 a0001c0002t0009g0108 a0001c0002t0032g0229 a0001c0002t0043g0224 a0002c0003t0003g0236	27	240	0.1125	-26	c.550 others(45): Show c.550+18908_550+18933delGTGTGTATATATATATATATATATAT		GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	3/6						chr16	TogoVar
GSG1L_chr16_27782528_28068714	27869875	ATCTCTCT others(19): Show ATCTCTCTGTCTCTGTCTCCCTCCATC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp2 HG01243.hp2 others(6): Show HG00140.hp2 HG00733.hp2 HG01243.hp2 HG01361.hp1 HG02300.hp2 HG02683.hp2 HG02896.hp2 HG02897.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0020 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0020 a0001c0002t0003 a0001c0002t0004 a0001c0002t0013 a0001c0002t0021	a0001c0001t0001g0051 a0001c0001t0006g0162 a0001c0001t0006g0163 others(6): Show a0001c0001t0001g0051 a0001c0001t0006g0162 a0001c0001t0006g0163 a0001c0001t0020g0187 a0001c0002t0003g0016 a0001c0002t0004g0113 a0001c0002t0013g0216 a0001c0002t0021g0060 a0001c0002t0021g0124	9	240	0.0375	-26	c.550 others(45): Show c.550+14585_550+14610delGATGGAGGGAGACAGAGACAGAGAGA		GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	3/6						chr16	TogoVar
GSG1L_chr16_27782528_28068714	27888477	TCTTTCCT others(19): Show TCTTTCCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0065 a0001c0002t0002g0065	1	240	0.0042	-26	c.398 others(43): Show c.398-3865_398-3840delGAAAGAAAGAAAGAAAGAAAGGAAAG		GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6						chr16	TogoVar
GSG1L_chr16_27782528_28068714	27946579	AAGAGAGA others(19): Show AAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	240	0.0042	-26	c.397 others(45): Show c.397+16551_397+16576delCTCTCTCTCTCTCTCTCTCTCTCTCT		GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6						chr16	TogoVar
GSN_chr9_121263162_121337842	121334772	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03130.hp1 HG06807.hp1 HG02976.hp2 HG03130.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0263 a0001c0001t0001g0041 a0001c0001t0001g0263	3	322	0.0093	-26	c.21 others(37): Show c.2170_*2195delTGTGTGTGTGTGTGTGTGTGTGTGTG		GSN	ENSG00000148180.22	transcript	ENST00000432226.7	protein_coding					1931		chr9	TogoVar
GSPT2_chrX_51738442_51751232	51746429	CTTGTTCA others(19): Show CTTGTTCAATGTTGTTTAGTTATGACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 NA18939.hp2 NA18968.hp1 others(3): Show HG03669.hp2 NA18939.hp2 NA18968.hp1 NA18981.hp1 NA18982.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	6	312	0.0192	-26	c.91 others(35): Show c.917_*942delTTGTTCAATGTTGTTTAGTTATGACA		GSPT2	ENSG00000189369.9	transcript	ENST00000340438.6	protein_coding					198		chrX	TogoVar
GSTA1_chr6_52786371_52808816	52796469	ATATATAT others(19): Show ATATATATATATATATATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00673.hp2 HG01192.hp1 others(14): Show HG00280.hp2 HG00673.hp2 HG01192.hp1 HG01243.hp2 HG01934.hp2 HG02300.hp1 HG02486.hp1 HG03453.hp1 HG03486.hp1 HG03669.hp2 NA18522.hp2 NA18953.hp2 NA18967.hp1 NA18968.hp2 NA18974.hp2 NA19058.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0004 a0001c0008t0001 a0001c0001t0001 a0001c0001t0004 a0001c0008t0001	a0001c0001t0001g0027 a0001c0001t0001g0044 a0001c0001t0001g0102 others(11): Show a0001c0001t0001g0027 a0001c0001t0001g0044 a0001c0001t0001g0102 a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0185 a0001c0001t0004g0120 a0001c0008t0001g0132	17	436	0.0390	-26	c.140 others(41): Show c.140-181_140-156delCACACATATATATATATATATATATA		GSTA1	ENSG00000243955.6	transcript	ENST00000334575.6	protein_coding	3/6						chr6	TogoVar
GSTA1_chr6_52786371_52808816	52796471	ATATATAT others(19): Show ATATATATATATATATATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00673.hp1 HG02015.hp2 HG00639.hp1 HG00673.hp1 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0134 a0001c0001t0001g0042 a0001c0001t0001g0134	3	436	0.0069	-26	c.140 others(41): Show c.140-183_140-158delCACACACATATATATATATATATATA		GSTA1	ENSG00000243955.6	transcript	ENST00000334575.6	protein_coding	3/6						chr6	TogoVar
GSTO2_chr10_104264184_104309950	104272587	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp1 HG03471.hp1 others(1): Show HG02145.hp1 HG02451.hp1 HG03471.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0010 a0001c0004t0005 a0001c0002t0010 a0001c0004t0005	a0001c0002t0010g0081 a0001c0002t0010g0082 a0001c0002t0010g0083 others(1): Show a0001c0002t0010g0081 a0001c0002t0010g0082 a0001c0002t0010g0083 a0001c0004t0005g0227	4	300	0.0133	-26	c.-23 others(45): Show c.-231-2079_-231-2054delTTTTTTTTTTTTTTTTTTTTTTTTTT		GSTO2	ENSG00000065621.15	transcript	ENST00000338595.7	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
GSTO2_chr10_104264184_104309950	104306050	TGTGTGCG others(19): Show TGTGTGCGCGCGCGCGCGCGCGTGCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG02976.hp1 HG03139.hp2 others(1): Show HG01123.hp1 HG02976.hp1 HG03139.hp2 NA18956.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0009 a0001c0002t0002 a0001c0003t0009	a0001c0002t0002g0104 a0001c0002t0002g0124 a0001c0003t0009g0050 others(1): Show a0001c0002t0002g0104 a0001c0002t0002g0124 a0001c0003t0009g0050 a0001c0003t0009g0220	4	300	0.0133	-26	c.67 others(37): Show c.6767_*6792delGTGTGCGCGCGCGCGCGCGCGTGCGC		GSTO2	ENSG00000065621.15	transcript	ENST00000338595.7	protein_coding					1101		chr10	TogoVar
GTDC1_chr2_143933068_144337512	144231843	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA19003.hp2 NA19066.hp2 NA18980.hp2 NA19003.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0004 a0001c0001t0016	a0001c0001t0004g0015 a0001c0001t0004g0020 a0001c0001t0016g0009 a0001c0001t0004g0015 a0001c0001t0004g0020 a0001c0001t0016g0009	3	124	0.0242	-26	c.-89 others(43): Show c.-89+3807_-89+3832delACACACACACACACACACACACACAC		GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	2/11						chr2	TogoVar
GTF2F2_chr13_45115510_45289893	45245676	TATATATA others(19): Show TATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show HG01975.hp1 HG02647.hp2 HG02809.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 others(1): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0004g0074	4	210	0.0191	-26	c.387 others(43): Show c.387-7189_387-7164delTATATATATATATATATATACATATA		GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45245682	TATATATA others(19): Show TATATATATATATATATATACATATAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00738.hp1 others(23): Show HG00280.hp2 HG00639.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01099.hp2 HG01123.hp1 HG01175.hp2 HG01891.hp1 HG02055.hp1 HG02109.hp2 HG02132.hp1 HG02572.hp1 HG02896.hp1 HG02897.hp1 HG03209.hp1 HG03490.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03834.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0076 a0001c0001t0001g0077 others(23): Show a0001c0001t0001g0039 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0209	26	210	0.1238	-26	c.387 others(43): Show c.387-7185_387-7160delTATATATATATATATACATATACATA		GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2H2_chr5_71030347_71072676	71030448	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 homoSapiens_chm13v2.hp1 HG06807.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0036 a0001c0001t0001g0040	2	79	0.0253	-26	c.52 others(37): Show c.5203_*5228delTTTTTTTTTTTTTTTTTTTTTTTTTT		GTF2H2	ENSG00000145736.15	transcript	ENST00000274400.10	protein_coding					4898		chr5	TogoVar
GTF2H5_chr6_158163350_158204344	158169686	ATATATAT others(19): Show ATATATATTATATAATATATTGTATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp1 HG02717.hp2 others(8): Show HG02145.hp1 HG02280.hp1 HG02717.hp2 HG02818.hp1 HG02970.hp1 HG03453.hp1 HG03490.hp2 HG03492.hp1 NA19058.hp2 NA20129.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0069 a0001c0001t0084	a0001c0001t0002g0032 a0001c0001t0004g0013 a0001c0001t0004g0032 others(8): Show a0001c0001t0002g0032 a0001c0001t0004g0013 a0001c0001t0004g0032 a0001c0001t0004g0203 a0001c0001t0019g0081 a0001c0001t0028g0013 a0001c0001t0029g0218 a0001c0001t0030g0219 a0001c0001t0030g0220 a0001c0001t0069g0013 a0001c0001t0084g0278	11	384	0.0287	-26	c.-34 others(41): Show c.-34-724_-34-699delTATATAATATATTGTATATTATATAT		GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF3A_chr13_27419619_27440823	27426427	GTAGTATG others(19): Show GTAGTATGCTTTTCATAGTTTGATGCA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01074.hp2 HG01243.hp2 others(16): Show HG00735.hp1 HG01074.hp2 HG01243.hp2 HG01884.hp1 HG02486.hp1 HG02559.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG03098.hp2 HG03139.hp1 HG03486.hp1 HG03540.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072	19	420	0.0452	-26	c.202 others(41): Show c.202-664_202-639delTAGTATGCTTTTCATAGTTTGATGCA		GTF3A	ENSG00000122034.17	transcript	ENST00000381140.10	protein_coding	1/8						chr13	TogoVar
GUCA1B_chr6_42178284_42199956	42192379	AAGAGAGA others(19): Show AAGAGAGAAAAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp1 HG02818.hp2 others(6): Show HG02630.hp2 HG02717.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG03041.hp2 HG03471.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0023 a0001c0002t0005g0041 a0001c0002t0005g0042 others(2): Show a0001c0002t0005g0023 a0001c0002t0005g0041 a0001c0002t0005g0042 a0001c0002t0005g0160 a0001c0002t0005g0161	9	418	0.0215	-26	c.207 others(43): Show c.207+2209_207+2234delCTTTTCTTTTCTTTTCTTTTCTCTCT		GUCA1B	ENSG00000112599.9	transcript	ENST00000230361.4	protein_coding	1/3						chr6	TogoVar
GUCA1C_chr3_108902792_108958879	108922154	TACACAAA others(19): Show TACACAAACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp1 HG01243.hp1 HG02572.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0093 a0003c0003t0001g0114 a0003c0003t0001g0093 a0003c0003t0001g0114	2	374	0.0054	-26	c.205 others(43): Show c.205-1595_205-1570delGTGTGTGTGTGTGTGTGTGTTTGTGT		GUCA1C	ENSG00000138472.11	transcript	ENST00000261047.8	protein_coding	1/3						chr3	TogoVar
GYG2_chrX_2823930_2887818	2840567	GATAATGG others(19): Show GATAATGGTAGAGATAATTTATAATCT	G G	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0266 a0001c0001t0009g0266	1	316	0.0032	-26	c.8-2 others(39): Show c.8-2642_8-2617delATGGTAGAGATAATTTATAATCTATA		GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	2/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2844532	ATATATGT others(19): Show ATATATGTGTATACGCACACGCATGCG	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02165.hp1 HG02258.hp1 others(2): Show HG02074.hp1 HG02165.hp1 HG02258.hp1 HG03490.hp1 NA19004.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0240 a0001c0001t0001g0268 a0001c0001t0003g0241 others(2): Show a0001c0001t0001g0240 a0001c0001t0001g0268 a0001c0001t0003g0241 a0001c0001t0003g0242 a0002c0002t0001g0179	5	316	0.0158	-26	c.149 others(43): Show c.149+1381_149+1406delCATGCGTATATGTGTATACGCACACG		GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
GYPC_chr2_126651158_126701667	126663950	GTCTCTCT others(19): Show GTCTCTCTCTCTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	416	0.0024	-26	c.49+ others(41): Show c.49+7664_49+7689delCTCTCTCTCTCTCTCTCTCTCTCTCT		GYPC	ENSG00000136732.16	transcript	ENST00000259254.9	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
H2AC7_chr6_26193784_26204293	26200044	AGGTTTGG others(19): Show AGGTTTGGTTTTATCCTCATTTGAGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	402	0.0025	-26	c.-82 others(35): Show c.-827_-802delCCCTCAAATGAGGATAAAACCAAACC		H2AC7	ENSG00000196866.3	transcript	ENST00000341023.2	protein_coding					752		chr6	TogoVar
H2BC7_chr6_26194516_26204988	26200044	AGGTTTGG others(19): Show AGGTTTGGTTTTATCCTCATTTGAGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	1	400	0.0025	-26	c.10 others(35): Show c.106_*131delGGTTTGGTTTTATCCTCATTTGAGGG		H2BC7	ENSG00000277224.3	transcript	ENST00000356530.6	protein_coding					57		chr6	TogoVar
H3C11_chr6_27866845_27877346	27876576	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19068.hp2 NA19063.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	374	0.0054	-26	c.-42 others(37): Show c.-4287_-4262delTTTTTTTTTTTTTTTTTTTTTTTTTT		H3C11	ENSG00000275379.2	transcript	ENST00000616365.2	protein_coding					4231		chr6	TogoVar
H3C4_chr6_26191784_26202286	26200044	AGGTTTGG others(19): Show AGGTTTGGTTTTATCCTCATTTGAGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	396	0.0025	-26	c.-28 others(37): Show c.-2820_-2795delCCCTCAAATGAGGATAAAACCAAACC		H3C4	ENSG00000197409.8	transcript	ENST00000356476.3	protein_coding					2759		chr6	TogoVar
H3Y2_chr5_17485967_17497076	17491522	GGTCCGGG others(19): Show GGTCCGGGCTGATGGCCTGGGCGATCT	G G	frameshift_variant frameshift_variant	HIGH	NA18983.hp1 NA18983.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0000 a0004c0009t0001g0000	1	400	0.0025	-26	c.221 others(33): Show c.221_246delAGATCGCCCAGGCCATCAGCCCGGAC	p.Glu others(4): Show p.Glu74fs	H3Y2	ENSG00000268799.4	transcript	ENST00000600799.3	protein_coding	1/1	554/1110	221/444	74/147			chr5	TogoVar
H4C13_chr6_27868148_27878534	27876576	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19068.hp2 NA19063.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	384	0.0052	-26	c.-30 others(37): Show c.-3092_-3067delTTTTTTTTTTTTTTTTTTTTTTTTTT		H4C13	ENSG00000275126.2	transcript	ENST00000618305.2	protein_coding					3043		chr6	TogoVar
H4C15_chr1_149855764_149866159	149865948	AAAGAAAG others(19): Show AAAGAAAGAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	206	0.0049	-26	c.-48 others(37): Show c.-4843_-4818delCTTTCTTTCTTTCTTTCTTCTTTCTT		H4C15	ENSG00000270276.3	transcript	ENST00000579512.3	protein_coding					4790		chr1	TogoVar
H4C15_chr1_149855764_149866159	149865956	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	206	0.0049	-26	c.-48 others(37): Show c.-4851_-4826delCTTTCTTTCTTTCTTTCTTTCTTTCT		H4C15	ENSG00000270276.3	transcript	ENST00000579512.3	protein_coding					4798		chr1	TogoVar
HACD3_chr15_65525463_65583349	65537946	AAAAAAAA others(19): Show AAAAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG03225.hp2 HG01167.hp1 HG01169.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0019 a0001c0001t0005g0299 a0001c0001t0005g0300 a0001c0001t0004g0019 a0001c0001t0005g0299 a0001c0001t0005g0300	3	328	0.0092	-26	c.87+ others(41): Show c.87+7230_87+7255delAAAAAAAAAAAATATATATATATATA		HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr15	TogoVar
HACD3_chr15_65525463_65583349	65537948	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02896.hp1 HG03225.hp1 others(10): Show HG02080.hp1 HG02896.hp1 HG03225.hp1 NA18522.hp1 NA18522.hp2 NA18939.hp1 NA18972.hp2 NA18975.hp1 NA19000.hp2 NA19010.hp1 NA19012.hp2 NA19056.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0011 a0001c0001t0001g0146 a0001c0001t0001g0147 others(9): Show a0001c0001t0001g0011 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0281 a0001c0001t0001g0289 a0001c0001t0004g0297	13	328	0.0396	-26	c.87+ others(41): Show c.87+7232_87+7257delAAAAAAAAAATATATATATATATATA		HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr15	TogoVar
HACD3_chr15_65525463_65583349	65537950	AAAAAAAA others(19): Show AAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02965.hp2 HG03453.hp1 others(2): Show HG02630.hp1 HG02965.hp2 HG03453.hp1 HG04228.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0072 a0001c0001t0001g0115 a0001c0001t0002g0238 others(2): Show a0001c0001t0001g0072 a0001c0001t0001g0115 a0001c0001t0002g0238 a0001c0001t0005g0294 a0001c0001t0005g0295	5	328	0.0152	-26	c.87+ others(41): Show c.87+7234_87+7259delAAAAAAAATATATATATATATATATA		HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr15	TogoVar
HACD3_chr15_65525463_65583349	65537952	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01517.hp1 HG02818.hp1 others(5): Show HG00140.hp1 HG01517.hp1 HG02818.hp1 HG02895.hp1 HG03041.hp2 HG03486.hp1 HG03540.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 others(5): Show a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0241 a0001c0001t0002g0246 a0001c0001t0009g0029	8	328	0.0244	-26	c.87+ others(41): Show c.87+7236_87+7261delAAAAAATATATATATATATATATATA		HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr15	TogoVar
HACD3_chr15_65525463_65583349	65537954	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA21309.hp2 NA18906.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0304 a0001c0001t0002g0207 a0001c0001t0002g0304	2	328	0.0061	-26	c.87+ others(41): Show c.87+7238_87+7263delAAAATATATATATATATATATATATA		HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr15	TogoVar
HACE1_chr6_104723094_104864919	104727252	TACATGTA others(19): Show TACATGTATGTATACGAATATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01934.hp2 NA19057.hp2 HG01516.hp2 HG01934.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0162 a0001c0001t0001g0170 a0001c0001t0001g0175	3	346	0.0087	-26	c.23 others(37): Show c.2384_*2409delGTATATATATTCGTATACATACATGT		HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding					841		chr6	TogoVar
HACE1_chr6_104723094_104864919	104727283	ATATGTAT others(19): Show ATATGTATACGAATATATATACACATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00609.hp2 others(87): Show HG00408.hp1 HG00544.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01167.hp1 HG01256.hp2 HG01258.hp2 HG01361.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02145.hp2 HG02165.hp1 HG02280.hp2 HG02615.hp2 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03516.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18939.hp2 NA18946.hp1 NA18947.hp2 NA18949.hp1 NA18952.hp1 NA18957.hp1 NA18961.hp2 NA18968.hp1 NA18972.hp1 NA18973.hp2 NA18981.hp1 NA18984.hp2 NA18987.hp1 NA18990.hp2 NA18994.hp1 NA19003.hp1 NA19004.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19084.hp1 NA19086.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0138 others(87): Show a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0261 a0001c0001t0001g0325 a0001c0001t0003g0140 a0001c0003t0001g0228 a0001c0003t0001g0229 a0001c0004t0001g0143 a0001c0004t0001g0147	90	346	0.2601	-26	c.23 others(37): Show c.2353_*2378delCATGTGTATATATATTCGTATACATA		HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding					810		chr6	TogoVar
HACL1_chr3_15555699_15606569	15592992	ACGCACAT others(19): Show ACGCACATGTGTGCGTGTATACACATG	A A	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	428	0.0023	-26	c.228 others(43): Show c.228-1338_228-1313delCATGTGTATACACGCACACATGTGCG		HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16						chr3	TogoVar
HADHB_chr2_26239939_26295465	26291504	TTGAAATA others(19): Show TTGAAATAAGAACTTTTATTCTTCATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0219 a0001c0004t0003g0219	1	290	0.0035	-26	c.15 others(37): Show c.1552_*1577delTGAAATAAGAACTTTTATTCTTCATG		HADHB	ENSG00000138029.14	transcript	ENST00000317799.10	protein_coding					1040		chr2	TogoVar
HAPLN3_chr15_88872294_88900544	88897512	TGTGGCCC others(19): Show TGTGGCCCCACCTCCTGCTGCTCAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG00621.hp2 others(147): Show HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00741.hp2 HG01070.hp2 HG01106.hp1 HG01109.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG02004.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03834.hp2 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18906.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp2 NA18984.hp1 NA18985.hp1 NA18989.hp2 NA18992.hp1 NA18994.hp2 NA18997.hp1 NA19000.hp1 NA19001.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19086.hp2 NA19087.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0011 a0001c0015 a0002c0010 a0004c0016 a0006c0018	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0010 a0001c0003t0001 a0001c0004t0002 a0001c0005t0001 a0001c0011t0001 a0001c0015t0002 a0002c0010t0001 a0004c0016t0001 a0006c0018t0002	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(84): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0249 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0225 a0001c0001t0003g0227 a0001c0001t0003g0229 a0001c0001t0003g0231 a0001c0002t0001g0110 a0001c0002t0001g0235 a0001c0002t0001g0237 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0040 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0063 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0219 a0001c0002t0002g0238 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0004g0039 a0001c0002t0004g0104 a0001c0002t0006g0062 a0001c0002t0010g0239 a0001c0003t0001g0015 a0001c0003t0001g0097 a0001c0003t0001g0218 a0001c0003t0001g0232 a0001c0004t0002g0189 a0001c0005t0001g0041 a0001c0005t0001g0101 a0001c0005t0001g0105 a0001c0005t0001g0234 a0001c0011t0001g0053 a0001c0011t0001g0221 a0001c0011t0001g0222 a0001c0015t0002g0077 a0002c0010t0001g0016 a0002c0010t0001g0109 a0004c0016t0001g0075 a0006c0018t0002g0244	150	436	0.3440	-26	c.-21 others(37): Show c.-2127_-2102delCTCTGAGCAGCAGGAGGTGGGGCCAC		HAPLN3	ENSG00000140511.12	transcript	ENST00000359595.8	protein_coding					1969		chr15	TogoVar
HAPLN3_chr15_88872294_88900544	88897514	TGGCCCCA others(19): Show TGGCCCCACCTCCTGCTGCTCAGAGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG04199.hp1 HG04228.hp1 others(2): Show HG03831.hp2 HG04199.hp1 HG04228.hp1 NA18987.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0005 a0001c0003t0001 a0001c0001t0001 a0001c0002t0005 a0001c0003t0001	a0001c0001t0001g0017 a0001c0001t0001g0168 a0001c0002t0005g0052 others(1): Show a0001c0001t0001g0017 a0001c0001t0001g0168 a0001c0002t0005g0052 a0001c0003t0001g0015	5	436	0.0115	-26	c.-21 others(37): Show c.-2129_-2104delGCCTCTGAGCAGCAGGAGGTGGGGCC		HAPLN3	ENSG00000140511.12	transcript	ENST00000359595.8	protein_coding					1971		chr15	TogoVar
HARBI1_chr11_46597861_46622227	46622076	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01070.hp2 HG01074.hp1 others(45): Show HG00735.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG02004.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG03017.hp1 HG03139.hp2 HG03471.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG04115.hp2 NA18906.hp2 NA18960.hp1 NA18964.hp2 NA18978.hp1 NA18984.hp1 NA18990.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19082.hp1 NA19083.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 others(37): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0038 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0099 a0001c0001t0001g0128 a0001c0001t0001g0157 a0001c0001t0001g0176 a0001c0001t0002g0031 a0001c0001t0002g0093 a0001c0001t0002g0125 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0006g0063 a0001c0001t0008g0150	48	258	0.1861	-26	c.-51 others(37): Show c.-5123_-5098delATATATATATATATATATATATATAT		HARBI1	ENSG00000180423.4	transcript	ENST00000326737.3	protein_coding					4850		chr11	TogoVar

Search by Variant

Search

Search Results (Total: 6759 hits)