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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLC17A7_chr19_49424401_49446527	49429163	GGAGGAGG others(29): Show GGAGGAGGGGCTGGGGCCTGGACTCCTGGGTCCGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG03017.hp2 HG03491.hp2 others(16): Show HG02129.hp1 HG03017.hp2 HG03491.hp2 HG03654.hp1 HG03704.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04228.hp2 NA18959.hp1 NA18972.hp2 NA18979.hp1 NA18981.hp2 NA19003.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19064.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0003t0001 a0001c0007t0007	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0012 others(11): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0102 a0001c0001t0001g0129 a0001c0001t0001g0180 a0001c0001t0007g0121 a0001c0001t0009g0088 a0001c0003t0001g0036 a0001c0003t0001g0085 a0001c0007t0007g0127	19	414	0.0459	-36	c.13 others(47): Show c.1320_*1355delTCCCGGACCCAGGAGTCCAGGCCCCAGCCCCTCC TC	SLC17A7	ENSG00000104888.10	transcript	ENST00000221485.8	protein_coding		237		chr19	TogoVar
SLC1A6_chr19_14945033_14984864	14972070	TTGTGTAA others(29): Show TTGTGTAAATGTGTGTCCGTGTCTGTGCAAATGTAAA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp1 HG02717.hp2 others(3): Show HG02280.hp2 HG02559.hp1 HG02717.hp2 HG02723.hp2 HG03130.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0237 a0001c0001t0001g0238 others(3): Show a0001c0001t0001g0217 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0253	6	408	0.0147	-36	c.206 others(51): Show c.206-232_206-197delTTTACATTTGCACAGACACGGACACACATT TACACA	SLC1A6	ENSG00000105143.13	transcript	ENST00000594383.2	protein_coding	2/9			chr19	TogoVar
SLC22A18_chr11_2897278_2930246	2924637	GTGACCTG others(29): Show GTGACCTGTGGTCCCATTCCCAGGCTCCTCCTGTGCT	G G	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	405	0.0025	-36	c.108 others(53): Show c.1088-370_1088-335delACCTGTGGTCCCATTCCCAGGCTCCTCC TGTGCTTG	SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A18_chr11_2897278_2930246	2924923	GAGATGGG others(29): Show GAGATGGGAGGCCATGGCTGTGTTCAGGAAGTGGGCA	G G	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	405	0.0025	-36	c.108 others(51): Show c.1088-86_1088-51delAGATGGGAGGCCATGGCTGTGTTCAGGAAG TGGGCA	SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding	10/10			chr11	TogoVar
SLC22A18_chr11_2897278_2930246	2926282	CACCAGAC others(29): Show CACCAGACACTGCCAGCCACCCGAACCCCAGAACCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	405	0.0025	-36	c.10 others(47): Show c.1086_*1121delACCAGACACTGCCAGCCACCCGAACCCCAGAACC GT	SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding		1037		chr11	TogoVar
SLC22A23_chr6_3263973_3462050	3326969	AGGAGGGA others(29): Show AGGAGGGACGGGGACTGCAGGTGGATCGTTTCTGCTG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00738.hp1 others(57): Show HG00558.hp2 HG00597.hp1 HG00738.hp1 HG00738.hp2 HG01175.hp1 HG01243.hp2 HG01361.hp1 HG01433.hp2 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02109.hp1 HG02145.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02735.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG04184.hp2 HG04199.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18973.hp2 NA18986.hp1 NA18992.hp2 NA19030.hp1 NA19065.hp1 NA19065.hp2 NA19088.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0021 a0001c0001t0023 a0001c0001t0028 a0001c0001t0030 a0001c0001t0042 a0001c0001t0052 a0001c0001t0056 a0001c0002t0002 a0001c0002t0037 a0001c0002t0044 a0001c0003t0012 a0001c0003t0019 a0001c0007t0004 a0001c0008t0001	a0001c0001t0001g0057 a0001c0001t0001g0068 a0001c0001t0001g0078 others(57): Show a0001c0001t0001g0057 a0001c0001t0001g0068 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0103 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0149 a0001c0001t0001g0177 a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0001t0003g0018 a0001c0001t0004g0026 a0001c0001t0004g0053 a0001c0001t0004g0059 a0001c0001t0004g0113 a0001c0001t0004g0143 a0001c0001t0004g0186 a0001c0001t0004g0192 a0001c0001t0005g0031 a0001c0001t0005g0064 a0001c0001t0005g0086 a0001c0001t0005g0091 a0001c0001t0005g0139 a0001c0001t0005g0165 a0001c0001t0007g0055 a0001c0001t0007g0058 a0001c0001t0007g0191 a0001c0001t0009g0030 a0001c0001t0009g0060 a0001c0001t0010g0062 a0001c0001t0010g0123 a0001c0001t0011g0199 a0001c0001t0011g0200 a0001c0001t0011g0210 a0001c0001t0011g0214 a0001c0001t0013g0204 a0001c0001t0015g0054 a0001c0001t0018g0019 a0001c0001t0018g0020 a0001c0001t0021g0025 a0001c0001t0023g0084 a0001c0001t0023g0131 a0001c0001t0028g0015 a0001c0001t0030g0022 a0001c0001t0042g0033 a0001c0001t0052g0209 a0001c0001t0056g0207 a0001c0002t0002g0124 a0001c0002t0002g0162 a0001c0002t0037g0081 a0001c0002t0044g0065 a0001c0003t0012g0128 a0001c0003t0012g0172 a0001c0003t0019g0063 a0001c0007t0004g0193 a0001c0008t0001g0189	60	222	0.2703	-36	c.914 others(53): Show c.914-3003_914-2968delCAGCAGAAACGATCCACCTGCAGTCCCC GTCCCTCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC22A25_chr11_63153437_63248599	63194890	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG02717.hp2 others(9): Show HG02055.hp2 HG02145.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03209.hp1 HG03225.hp1 HG03486.hp2 HG03516.hp1	a0003 a0003	a0003c0004 a0003c0016 a0003c0004 a0003c0016	a0003c0004t0016 a0003c0004t0028 a0003c0004t0029 others(4): Show a0003c0004t0016 a0003c0004t0028 a0003c0004t0029 a0003c0004t0030 a0003c0004t0058 a0003c0004t0059 a0003c0016t0057	a0003c0004t0016g0039 a0003c0004t0016g0040 a0003c0004t0016g0044 others(7): Show a0003c0004t0016g0039 a0003c0004t0016g0040 a0003c0004t0016g0044 a0003c0004t0028g0041 a0003c0004t0028g0171 a0003c0004t0029g0007 a0003c0004t0030g0008 a0003c0004t0058g0038 a0003c0004t0059g0042 a0003c0016t0057g0043	12	344	0.0349	-36	c.831 others(55): Show c.831-11109_831-11074delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	SLC22A25	ENSG00000196600.13	transcript	ENST00000306494.11	protein_coding	7/11			chr11	TogoVar
SLC23A2_chr20_4847358_5006510	5001266	AGGCCGCG others(29): Show AGGCCGCGCCGCGGGGCCGGTGGGTGACAGCGCGCGG	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0202 a0001c0002t0003g0202	1	204	0.0049	-36	c.-28 others(53): Show c.-282+104_-282+139delCCGCGCGCTGTCACCCACCGGCCCCGCG GCGCGGCC	SLC23A2	ENSG00000089057.15	transcript	ENST00000338244.6	protein_coding	1/16			chr20	TogoVar
SLC23A3_chr2_219156465_219175029	219159528	TATATATA others(29): Show TATATATATGCATATATATATATGCATATATATATGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01243.hp1 HG01884.hp1 others(13): Show HG00733.hp2 HG01243.hp1 HG01884.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp2 HG02559.hp1 HG02818.hp2 HG02886.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp1 NA18906.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0086 a0001c0001t0001g0096	16	434	0.0369	-36	c.23 others(47): Show c.2345_*2380delGCATATATATATGCATATATATATATGCATATAT AT	SLC23A3	ENSG00000213901.11	transcript	ENST00000409878.8	protein_coding		1936		chr2	TogoVar
SLC24A2_chr9_19502455_19794037	19563816	TCCTTCCT others(29): Show TCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01168.hp2 HG01243.hp2 others(25): Show HG01069.hp1 HG01168.hp2 HG01243.hp2 HG01346.hp1 HG01361.hp1 HG02109.hp2 HG02258.hp2 HG02630.hp2 HG02723.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03239.hp2 HG03486.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 NA18906.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(11): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0016 a0001c0020 a0001c0021 a0001c0025	a0001c0001t0002 a0001c0004t0001 a0001c0004t0016 others(18): Show a0001c0001t0002 a0001c0004t0001 a0001c0004t0016 a0001c0004t0072 a0001c0005t0022 a0001c0006t0017 a0001c0007t0004 a0001c0007t0013 a0001c0007t0041 a0001c0007t0042 a0001c0007t0057 a0001c0008t0044 a0001c0009t0002 a0001c0010t0060 a0001c0011t0091 a0001c0011t0093 a0001c0013t0089 a0001c0016t0056 a0001c0020t0037 a0001c0021t0010 a0001c0025t0092	a0001c0001t0002g0160 a0001c0004t0001g0017 a0001c0004t0001g0056 others(25): Show a0001c0001t0002g0160 a0001c0004t0001g0017 a0001c0004t0001g0056 a0001c0004t0001g0112 a0001c0004t0001g0124 a0001c0004t0001g0125 a0001c0004t0016g0074 a0001c0004t0072g0128 a0001c0005t0022g0088 a0001c0005t0022g0156 a0001c0006t0017g0044 a0001c0006t0017g0047 a0001c0006t0017g0048 a0001c0007t0004g0076 a0001c0007t0013g0093 a0001c0007t0041g0091 a0001c0007t0042g0022 a0001c0007t0057g0003 a0001c0008t0044g0083 a0001c0009t0002g0155 a0001c0010t0060g0090 a0001c0011t0091g0162 a0001c0011t0093g0163 a0001c0013t0089g0067 a0001c0016t0056g0089 a0001c0020t0037g0153 a0001c0021t0010g0150 a0001c0025t0092g0164	28	188	0.1489	-36	c.134 others(55): Show c.1347+9499_1347+9534delGAGGGAGGGAGGGAGGGAGGGAGGGA GGAAGGAAGG	SLC24A2	ENSG00000155886.12	transcript	ENST00000341998.7	protein_coding	7/10			chr9	TogoVar
SLC25A21_chr14_36672921_37177606	36810878	AAGAAAAG others(29): Show AAGAAAAGAGTGGGGGAAATAATTCAGCATATGATAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp2 HG00639.hp1 others(32): Show HG00099.hp2 HG00558.hp2 HG00639.hp1 HG00738.hp1 HG01169.hp1 HG01192.hp2 HG01257.hp2 HG01346.hp1 HG01433.hp1 HG01978.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02165.hp1 HG02280.hp1 HG02486.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG03669.hp2 NA18522.hp2 NA18989.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19003.hp2 NA19060.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0013 a0001c0001t0028 a0001c0001t0031 a0001c0002t0003 a0001c0002t0004	a0001c0001t0001g0016 a0001c0001t0001g0040 a0001c0001t0001g0061 others(32): Show a0001c0001t0001g0016 a0001c0001t0001g0040 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0140 a0001c0001t0002g0052 a0001c0001t0002g0072 a0001c0001t0002g0144 a0001c0001t0003g0009 a0001c0001t0003g0107 a0001c0001t0003g0118 a0001c0001t0004g0010 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0100 a0001c0001t0004g0124 a0001c0001t0005g0066 a0001c0001t0005g0125 a0001c0001t0005g0146 a0001c0001t0010g0034 a0001c0001t0013g0073 a0001c0001t0013g0151 a0001c0001t0028g0157 a0001c0001t0031g0164 a0001c0002t0003g0082 a0001c0002t0003g0090 a0001c0002t0004g0099 a0001c0002t0004g0132	35	164	0.2134	-36	c.203 others(53): Show c.203+3004_203+3039delCTATCATATGCTGAATTATTTCCCCCAC TCTTTTCT	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC25A21_chr14_36672921_37177606	37098718	TAGATAGA others(29): Show TAGATAGATAGATAGATAGATAGATAGATAGACAGAC	T T	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	164	0.0061	-36	c.70+ others(53): Show c.70+73527_70+73562delGTCTGTCTATCTATCTATCTATCTATCT ATCTATCT	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	1/9			chr14	TogoVar
SLC25A21_chr14_36672921_37177606	37098722	TAGATAGA others(29): Show TAGATAGATAGATAGATAGATAGATAGACAGACAGAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02280.hp1 others(8): Show HG02109.hp1 HG02258.hp1 HG02280.hp1 HG02572.hp2 HG02895.hp2 HG02976.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp2 NA18522.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0023 a0002c0004t0008	a0001c0001t0001g0031 a0001c0001t0002g0033 a0001c0001t0003g0032 others(8): Show a0001c0001t0001g0031 a0001c0001t0002g0033 a0001c0001t0003g0032 a0001c0001t0004g0002 a0001c0001t0005g0036 a0001c0001t0005g0122 a0001c0001t0006g0037 a0001c0001t0009g0121 a0001c0001t0010g0034 a0001c0001t0023g0035 a0002c0004t0008g0123	11	164	0.0671	-36	c.70+ others(53): Show c.70+73523_70+73558delGTCTGTCTGTCTATCTATCTATCTATCT ATCTATCT	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	1/9			chr14	TogoVar
SLC25A31_chr4_127725400_127779292	127777932	ATTTAGCC others(29): Show ATTTAGCCTCTTTCTCACTTTTCTTGGGAGCCTACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	366	0.0027	-36	c.43 others(47): Show c.4359_*4394delTTTAGCCTCTTTCTCACTTTTCTTGGGAGCCTAC AC	SLC25A31	ENSG00000151475.6	transcript	ENST00000281154.6	protein_coding		3641		chr4	TogoVar
SLC25A37_chr8_23523956_23580463	23546549	ATATAGTG others(29): Show ATATAGTGTATATATATATATATATATATATATAGTG	A A	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0073 a0001c0002t0028g0073	1	406	0.0025	-36	c.210 others(55): Show c.210+17342_210+17377delGTGTATATATATATATATATATATAT ATAGTGTATA	SLC25A37	ENSG00000147454.14	transcript	ENST00000519973.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC25A43_chrX_119394336_119459478	119457052	GAGAAAGA others(29): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01884.hp2 HG00639.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0273 a0001c0002t0008g0275 a0001c0002t0008g0273 a0001c0002t0008g0275	2	314	0.0064	-36	c.39 others(47): Show c.3988_*4023delAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AA	SLC25A43	ENSG00000077713.19	transcript	ENST00000217909.8	protein_coding		2575		chrX	TogoVar
SLC25A43_chrX_119394336_119459478	119457080	AAGAAAGA others(29): Show AAGAAAGAAAGAAAGAAAGAAAGAAAAAGGAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02723.hp2 NA18984.hp1 HG01109.hp1 HG02723.hp2 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0017 a0001c0002t0002g0130 a0001c0002t0002g0217 a0001c0002t0002g0017 a0001c0002t0002g0130 a0001c0002t0002g0217	3	314	0.0096	-36	c.40 others(47): Show c.4016_*4051delAGAAAGAAAGAAAGAAAGAAAGAAAAAGGAAGAA AG	SLC25A43	ENSG00000077713.19	transcript	ENST00000217909.8	protein_coding		2603		chrX	TogoVar
SLC25A43_chrX_119394336_119459478	119457084	AAGAAAGA others(29): Show AAGAAAGAAAGAAAGAAAGAAAAAGGAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0009	1	314	0.0032	-36	c.40 others(47): Show c.4020_*4055delAGAAAGAAAGAAAGAAAGAAAAAGGAAGAAAGAA AG	SLC25A43	ENSG00000077713.19	transcript	ENST00000217909.8	protein_coding		2607		chrX	TogoVar
SLC25A43_chrX_119394336_119459478	119457092	AAGAAAGA others(29): Show AAGAAAGAAAGAAAAAGGAAGAAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 NA18968.hp2 NA18980.hp1 HG03704.hp1 NA18968.hp2 NA18980.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0010 a0001c0002t0002 a0001c0003t0010	a0001c0002t0002g0205 a0001c0003t0010g0206 a0001c0003t0010g0207 a0001c0002t0002g0205 a0001c0003t0010g0206 a0001c0003t0010g0207	3	314	0.0096	-36	c.40 others(47): Show c.4028_*4063delAGAAAGAAAGAAAAAGGAAGAAAGAAAGAAAGAA AG	SLC25A43	ENSG00000077713.19	transcript	ENST00000217909.8	protein_coding		2615		chrX	TogoVar
SLC25A43_chrX_119394336_119459478	119457144	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 NA18972.hp2 HG00323.hp2 NA18972.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0085 a0002c0001t0001g0119 a0002c0001t0001g0085 a0002c0001t0001g0119	2	314	0.0064	-36	c.40 others(47): Show c.4080_*4115delAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGA AA	SLC25A43	ENSG00000077713.19	transcript	ENST00000217909.8	protein_coding		2667		chrX	TogoVar
SLC25A43_chrX_119394336_119459478	119457148	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAAGAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0092 a0002c0001t0001g0092	1	314	0.0032	-36	c.40 others(47): Show c.4084_*4119delAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAAGA AA	SLC25A43	ENSG00000077713.19	transcript	ENST00000217909.8	protein_coding		2671		chrX	TogoVar
SLC26A3_chr7_107760469_107808223	107770000	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0095 a0001c0002t0001g0095	1	436	0.0023	-36	c.206 others(55): Show c.2062+2018_2062+2053delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGA	SLC26A3	ENSG00000091138.13	transcript	ENST00000340010.10	protein_coding	18/20			chr7	TogoVar
SLC26A4_chr7_107655828_107722809	107686267	TCCTTCCC others(29): Show TCCTTCCCTCCCTTCCCTCCCTTTCCTACCTTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19010.hp2 HG02622.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0217 a0001c0001t0003g0182 a0001c0001t0001g0217 a0001c0001t0003g0182	2	366	0.0055	-36	c.100 others(55): Show c.1002-2755_1002-2720delTCCCTCCCTTCCCTCCCTTCCCTCCC TTTCCTACCT	SLC26A4	ENSG00000091137.14	transcript	ENST00000644269.2	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
SLC27A5_chr19_58493333_58516992	58502153	CAGAGTAG others(29): Show CAGAGTAGTGAGTGAGTAGATGGATGGGTGAACAGTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02055.hp1 HG02630.hp1 others(4): Show HG01069.hp1 HG02055.hp1 HG02630.hp1 HG02922.hp1 HG02976.hp1 HG03209.hp1 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0007 a0001c0003 a0002c0002 a0002c0007	a0001c0003t0001 a0002c0002t0001 a0002c0007t0001 a0001c0003t0001 a0002c0002t0001 a0002c0007t0001	a0001c0003t0001g0081 a0001c0003t0001g0083 a0001c0003t0001g0235 others(4): Show a0001c0003t0001g0081 a0001c0003t0001g0083 a0001c0003t0001g0235 a0001c0003t0001g0245 a0002c0002t0001g0065 a0002c0007t0001g0054 a0002c0007t0001g0056	7	424	0.0165	-36	c.105 others(53): Show c.1058-779_1058-744delAACTGTTCACCCATCCATCTACTCACTC ACTACTCT	SLC27A5	ENSG00000083807.10	transcript	ENST00000263093.7	protein_coding	3/9			chr19	TogoVar
SLC27A5_chr19_58493333_58516992	58502183	AACAGTTA others(29): Show AACAGTTAGAGTAGTGAGTGAGTAGATGGATGGGTGG	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	424	0.0024	-36	c.105 others(53): Show c.1058-809_1058-774delCCACCCATCCATCTACTCACTCACTACT CTAACTGT	SLC27A5	ENSG00000083807.10	transcript	ENST00000263093.7	protein_coding	3/9			chr19	TogoVar
SLC27A5_chr19_58493333_58516992	58502466	GAGTAGTG others(29): Show GAGTAGTGAGTGAGTAGATGGATGGGTGAACAGTTAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(268): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03098.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0007 a0009 a0010 a0012	a0001c0001 a0001c0013 a0001c0016 others(6): Show a0001c0001 a0001c0013 a0001c0016 a0002c0002 a0005c0009 a0007c0011 a0009c0020 a0010c0017 a0012c0015	a0001c0001t0001 a0001c0001t0002 a0001c0013t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0013t0001 a0001c0016t0001 a0002c0002t0001 a0005c0009t0001 a0007c0011t0001 a0009c0020t0001 a0010c0017t0001 a0012c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(162): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0254 a0001c0001t0002g0238 a0001c0013t0001g0134 a0001c0016t0001g0136 a0002c0002t0001g0053 a0002c0002t0001g0072 a0005c0009t0001g0129 a0005c0009t0001g0143 a0007c0011t0001g0272 a0007c0011t0001g0273 a0009c0020t0001g0271 a0010c0017t0001g0208 a0012c0015t0001g0092	271	424	0.6392	-36	c.105 others(55): Show c.1058-1092_1058-1057delGTAACTGTTCACCCATCCATCTACTC ACTCACTACT	SLC27A5	ENSG00000083807.10	transcript	ENST00000263093.7	protein_coding	3/9			chr19	TogoVar
SLC27A5_chr19_58493333_58516992	58502666	AACAGTTA others(29): Show AACAGTTAGAGTAGTGAGTGAGTAGATGGATGGGTGG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02809.hp2 HG03471.hp2 others(2): Show HG02723.hp2 HG02809.hp2 HG03471.hp2 NA18906.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0174 a0001c0001t0001g0242 others(2): Show a0001c0001t0001g0074 a0001c0001t0001g0174 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244	5	424	0.0118	-36	c.105 others(55): Show c.1058-1292_1058-1257delCCACCCATCCATCTACTCACTCACTA CTCTAACTGT	SLC27A5	ENSG00000083807.10	transcript	ENST00000263093.7	protein_coding	3/9			chr19	TogoVar
SLC27A5_chr19_58493333_58516992	58502771	GTGGACAG others(29): Show GTGGACAGTTAGAGTAGTGAGTGAGTAGATGGATGGC	G G	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	424	0.0024	-36	c.105 others(55): Show c.1058-1397_1058-1362delGCCATCCATCTACTCACTCACTACTC TAACTGTCCA	SLC27A5	ENSG00000083807.10	transcript	ENST00000263093.7	protein_coding	3/9			chr19	TogoVar
SLC27A5_chr19_58493333_58516992	58502807	CTGGACAG others(29): Show CTGGACAGTTAGAGTAGTGAGTGAGTAGATGGATGGG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02280.hp1 HG02622.hp1 others(2): Show HG01109.hp2 HG02280.hp1 HG02622.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0018 a0001c0006t0001g0025 a0001c0001t0001g0018 a0001c0006t0001g0025	5	424	0.0118	-36	c.105 others(55): Show c.1058-1433_1058-1398delCCCATCCATCTACTCACTCACTACTC TAACTGTCCA	SLC27A5	ENSG00000083807.10	transcript	ENST00000263093.7	protein_coding	3/9			chr19	TogoVar
SLC28A1_chr15_84879662_84950798	84889677	TTTCCTTC others(29): Show TTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02080.hp1 HG02280.hp1 others(7): Show HG00733.hp1 HG02080.hp1 HG02280.hp1 HG02683.hp2 HG02698.hp2 HG02976.hp2 HG03130.hp1 HG03225.hp2 NA18971.hp2 NA18983.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0004 a0002c0001 a0003c0005 others(2): Show a0001c0004 a0002c0001 a0003c0005 a0003c0015 a0008c0010	a0001c0004t0001 a0002c0001t0001 a0002c0001t0002 others(4): Show a0001c0004t0001 a0002c0001t0001 a0002c0001t0002 a0003c0005t0002 a0003c0015t0003 a0003c0015t0015 a0008c0010t0002	a0001c0004t0001g0383 a0002c0001t0001g0111 a0002c0001t0001g0335 others(7): Show a0001c0004t0001g0383 a0002c0001t0001g0111 a0002c0001t0001g0335 a0002c0001t0001g0370 a0002c0001t0002g0201 a0003c0005t0002g0202 a0003c0015t0003g0365 a0003c0015t0003g0366 a0003c0015t0015g0326 a0008c0010t0002g0203	10	396	0.0253	-36	c.186 others(51): Show c.186-750_186-715delTTTCCTTCCTTCCTTCTTTCCTTCCTTCCT TCCTTC	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84906504	GTTTGTTT others(29): Show GTTTGTTTGTTTGTTTGTTTGTTTGTTTCTTTCTTTC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02559.hp2 HG02970.hp2 others(1): Show HG01109.hp1 HG02559.hp2 HG02970.hp2 NA19240.hp1	a0001 a0020 a0001 a0020	a0001c0004 a0020c0059 a0001c0004 a0020c0059	a0001c0004t0001 a0001c0004t0005 a0020c0059t0001 a0001c0004t0001 a0001c0004t0005 a0020c0059t0001	a0001c0004t0001g0380 a0001c0004t0005g0284 a0001c0004t0005g0285 others(1): Show a0001c0004t0001g0380 a0001c0004t0005g0284 a0001c0004t0005g0285 a0020c0059t0001g0008	4	396	0.0101	-36	c.717 others(51): Show c.717+856_717+891delGTTTGTTTGTTTGTTTGTTTGTTTCTTTCT TTCTTT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84906516	GTTTGTTT others(29): Show GTTTGTTTGTTTGTTTCTTTCTTTCTTTCTTTCTTTC	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02040.hp1 HG02080.hp2 others(11): Show HG01106.hp1 HG02040.hp1 HG02080.hp2 HG02155.hp1 HG02723.hp2 HG02735.hp1 HG03195.hp2 NA18612.hp1 NA18947.hp1 NA18968.hp2 NA18975.hp2 NA19067.hp1 NA19080.hp1 NA19087.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0008	a0001c0002 a0001c0008 a0003c0005 others(3): Show a0001c0002 a0001c0008 a0003c0005 a0004c0003 a0004c0024 a0008c0010	a0001c0002t0001 a0001c0008t0001 a0003c0005t0001 others(4): Show a0001c0002t0001 a0001c0008t0001 a0003c0005t0001 a0004c0003t0001 a0004c0003t0002 a0004c0024t0002 a0008c0010t0002	a0001c0002t0001g0081 a0001c0008t0001g0051 a0001c0008t0001g0053 others(11): Show a0001c0002t0001g0081 a0001c0008t0001g0051 a0001c0008t0001g0053 a0003c0005t0001g0019 a0003c0005t0001g0323 a0004c0003t0001g0050 a0004c0003t0001g0052 a0004c0003t0001g0064 a0004c0003t0001g0353 a0004c0003t0001g0354 a0004c0003t0001g0355 a0004c0003t0002g0218 a0004c0024t0002g0244 a0008c0010t0002g0193	14	396	0.0354	-36	c.717 others(51): Show c.717+868_717+903delGTTTGTTTGTTTCTTTCTTTCTTTCTTTCT TTCTTT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC2A13_chr12_39750025_40111081	39896085	TATATGTA others(29): Show TATATGTATACACGTGTATACATATATGAATGCATAC	T T	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0207 a0001c0001t0003g0207	1	214	0.0047	-36	c.103 others(57): Show c.1035-24160_1035-24125delGTATGCATTCATATATGTATACAC GTGTATACATAT	SLC2A13	ENSG00000151229.13	transcript	ENST00000280871.9	protein_coding	4/9			chr12	TogoVar
SLC2A13_chr12_39750025_40111081	39896344	ATATGTAT others(29): Show ATATGTATGTATATGTGTATATATGTATACATATATG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0082 a0001c0001t0008g0082	1	214	0.0047	-36	c.103 others(57): Show c.1035-24419_1035-24384delCATATATGTATACATATATACACA TATACATACATA	SLC2A13	ENSG00000151229.13	transcript	ENST00000280871.9	protein_coding	4/9			chr12	TogoVar
SLC2A2_chr3_170991347_171031720	171019091	GTGTGTGT others(29): Show GTGTGTGTATATATATATATATATATATATATACGTA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03239.hp1 HG03579.hp1 others(1): Show HG02451.hp2 HG03239.hp1 HG03579.hp1 NA20752.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0002 a0002c0004t0003 a0002c0003t0002 a0002c0004t0003	a0002c0003t0002g0196 a0002c0003t0002g0204 a0002c0004t0003g0022 a0002c0003t0002g0196 a0002c0003t0002g0204 a0002c0004t0003g0022	4	328	0.0122	-36	c.16- others(49): Show c.16-504_16-469delTACGTATATATATATATATATATATATATACA CACA	SLC2A2	ENSG00000163581.14	transcript	ENST00000314251.8	protein_coding	1/10			chr3	TogoVar
SLC2A3_chr12_7914230_7941187	7941026	AAACACTG others(29): Show AAACACTGTAGAAAATAAGTCCTCAGGGTGAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0020 a0001c0001t0004g0020	1	420	0.0024	-36	c.-50 others(47): Show c.-5028_-4993delCTTTCTTCACCCTGAGGACTTATTTTCTACAGTG TT	SLC2A3	ENSG00000059804.17	transcript	ENST00000075120.12	protein_coding		4840		chr12	TogoVar
SLC2A4RG_chr20_63734776_63749050	63747372	TGGTGGAG others(29): Show TGGTGGAGGTGGGGGGGGCAGGTGGTGAGCAGGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01074.hp2 HG03239.hp2 others(13): Show HG00423.hp2 HG01074.hp2 HG03239.hp2 HG03669.hp1 HG03710.hp1 HG04115.hp1 HG04228.hp1 NA18947.hp1 NA18948.hp1 NA18953.hp1 NA18960.hp1 NA18979.hp2 NA19002.hp2 NA19012.hp1 NA19057.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0010 a0001c0001t0001 a0001c0001t0003 a0002c0002t0010	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0003g0001 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0003g0001 a0002c0002t0010g0013	16	416	0.0385	-36	c.43 others(47): Show c.4383_*4418delGGTGGAGGTGGGGGGGGCAGGTGGTGAGCAGGGC CA	SLC2A4RG	ENSG00000125520.14	transcript	ENST00000266077.5	protein_coding		3323		chr20	TogoVar
SLC2A9_chr4_9821224_10026497	10024177	TGTGTGCC others(29): Show TGTGTGCCTTCCCCTCTGCACGTGTGCTGCTGCTCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0001 a0006c0004t0001	a0006c0004t0001g0282 a0006c0004t0001g0282	1	336	0.0030	-36	c.-27 others(47): Show c.-2784_-2749delGTGAGCAGCAGCACACGTGCAGAGGGGAAGGCAC AC	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding		2681		chr4	TogoVar
SLC30A10_chr1_219905445_219933557	219922174	GTGTTTTT others(29): Show GTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp1 HG02717.hp1 others(1): Show HG02615.hp1 HG02647.hp1 HG02717.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0143 a0001c0001t0144 others(1): Show a0001c0001t0059 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145	a0001c0001t0059g0341 a0001c0001t0143g0345 a0001c0001t0144g0344 others(1): Show a0001c0001t0059g0341 a0001c0001t0143g0345 a0001c0001t0144g0344 a0001c0001t0145g0342	4	426	0.0094	-36	c.719 others(53): Show c.719-3716_719-3681delAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAACA	SLC30A10	ENSG00000196660.12	transcript	ENST00000366926.4	protein_coding	2/3			chr1	TogoVar
SLC35F3_chr1_233899676_234329511	234108704	ATATATAT others(29): Show ATATATATAAAAGATATATATAAATATATATATCTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00438.hp1 others(36): Show HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00639.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01167.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp1 HG01934.hp1 HG02055.hp2 HG02074.hp2 HG02257.hp1 HG02258.hp1 HG02602.hp1 HG03041.hp1 HG03195.hp2 HG03486.hp1 HG03492.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18950.hp2 NA18960.hp1 NA18960.hp2 NA18974.hp1 NA18979.hp1 NA18990.hp1 NA18994.hp1 NA18994.hp2 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0016 a0001c0003t0002 a0002c0005t0001	a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0001g0049 others(36): Show a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0003g0074 a0001c0001t0003g0094 a0001c0001t0003g0108 a0001c0001t0003g0115 a0001c0001t0003g0121 a0001c0001t0009g0084 a0001c0001t0013g0112 a0001c0002t0002g0124 a0001c0002t0002g0133 a0001c0002t0002g0144 a0001c0002t0004g0010 a0001c0002t0004g0012 a0001c0002t0004g0016 a0001c0002t0004g0018 a0001c0002t0004g0019 a0001c0002t0004g0022 a0001c0002t0004g0024 a0001c0002t0005g0120 a0001c0002t0005g0134 a0001c0002t0005g0150 a0001c0002t0016g0148 a0001c0003t0002g0001 a0001c0003t0002g0002 a0001c0003t0002g0004 a0002c0005t0001g0069	39	158	0.2468	-36	c.284 others(57): Show c.284-122655_284-122620delAATATATATATCTTTTATATATAA AAGATATATATA	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC35F3_chr1_233899676_234329511	234304035	TTCCTTCC others(29): Show TTCCTTCCTTCTTTCTTTCCTTCCTTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG04204.hp2 HG03669.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0093 a0001c0001t0001g0083 a0001c0001t0001g0093	2	158	0.0127	-36	c.609 others(53): Show c.609-5064_609-5029delCCTTCCTTCTTTCTTTCCTTCCTTTCCT TCCTTCCT	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC35F5_chr2_113701709_113761642	113718865	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	344	0.0029	-36	c.149 others(53): Show c.1496+253_1496+288delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	SLC35F5	ENSG00000115084.15	transcript	ENST00000245680.7	protein_coding	14/15			chr2	TogoVar
SLC39A11_chr17_72640949_73097688	72948244	AAAACCCC others(29): Show AAAACCCCACTGCAAGCGTCATCGCCGCACACATACC	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0070 a0001c0006t0001g0070	1	180	0.0056	-36	c.307 others(51): Show c.307-405_307-370delGGTATGTGTGCGGCGATGACGCTTGCAGTG GGGTTT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	4/9			chr17	TogoVar
SLC39A11_chr17_72640949_73097688	72948280	CAAACCCC others(29): Show CAAACCCCACTGCAAGCGTCATCGCCGCACGCACACA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp1 HG02451.hp1 others(1): Show HG01109.hp1 HG02055.hp1 HG02451.hp1 HG03139.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0002c0004 a0002c0014 others(1): Show a0002c0002 a0002c0004 a0002c0014 a0005c0013	a0002c0002t0002 a0002c0004t0001 a0002c0014t0001 others(1): Show a0002c0002t0002 a0002c0004t0001 a0002c0014t0001 a0005c0013t0001	a0002c0002t0002g0030 a0002c0004t0001g0060 a0002c0014t0001g0003 others(1): Show a0002c0002t0002g0030 a0002c0004t0001g0060 a0002c0014t0001g0003 a0005c0013t0001g0130	4	180	0.0222	-36	c.307 others(51): Show c.307-441_307-406delTGTGTGCGTGCGGCGATGACGCTTGCAGTG GGGTTT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	4/9			chr17	TogoVar
SLC39A11_chr17_72640949_73097688	72948369	GTCATCGC others(29): Show GTCATCGCCGCACGCACACAAAACCCCACTGCAAGCA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0032 a0002c0004t0002g0032	1	180	0.0056	-36	c.307 others(51): Show c.307-530_307-495delTGCTTGCAGTGGGGTTTTGTGTGCGTGCGG CGATGA	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	4/9			chr17	TogoVar
SLC39A12_chr10_17946918_18048285	18041721	ATATATGT others(29): Show ATATATGTGTATATATGTATATACATGTATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02738.hp2 HG03654.hp2 others(2): Show HG00639.hp2 HG02738.hp2 HG03654.hp2 HG03669.hp1 NA18982.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0022 a0002c0003 a0001c0005 a0001c0022 a0002c0003	a0001c0005t0001 a0001c0022t0001 a0002c0003t0001 a0001c0005t0001 a0001c0022t0001 a0002c0003t0001	a0001c0005t0001g0123 a0001c0022t0001g0052 a0002c0003t0001g0183 others(2): Show a0001c0005t0001g0123 a0001c0022t0001g0052 a0002c0003t0001g0183 a0002c0003t0001g0189 a0002c0003t0001g0190	5	368	0.0136	-36	c.194 others(53): Show c.1948-979_1948-944delTGTGTATATATGTATATACATGTATATA TGTGTATA	SLC39A12	ENSG00000148482.12	transcript	ENST00000377369.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
SLC39A14_chr8_22362278_22427736	22396500	AGGGAGAG others(29): Show AGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0255 a0002c0002t0002g0255	1	324	0.0031	-36	c.-15 others(53): Show c.-15-8192_-15-8157delAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGGGGGGG	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC39A14_chr8_22362278_22427736	22396511	GAGAGAGA others(29): Show GAGAGAGAGAGAGAGAGAGAGAGGGGGGGGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0294 a0002c0002t0002g0294	1	324	0.0031	-36	c.-15 others(53): Show c.-15-8184_-15-8149delAGAGAGAGAGAGAGAGAGAGAGGGGGGG GAGAGAGA	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8			chr8	TogoVar
SLC39A14_chr8_22362278_22427736	22427637	TATTCTAT others(29): Show TATTCTATAGATGTGGCCCTTGAAGTGAAATATCTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0109 a0003c0001t0001g0109	1	324	0.0031	-36	c.79 others(47): Show c.7940_*7975delATTCTATAGATGTGGCCCTTGAAGTGAAATATCT TA	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding		4902		chr8	TogoVar
SLC39A8_chr4_102256666_102350482	102350124	TATATATA others(29): Show TATATATATATATATATAGAGAGAGAGAGAGAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0006 a0001c0011t0006	a0001c0011t0006g0080 a0001c0011t0006g0080	1	266	0.0038	-36	c.-50 others(47): Show c.-5069_-5034delCTCTCTCTCTCTCTCTCTCTATATATATATATAT AT	SLC39A8	ENSG00000138821.14	transcript	ENST00000356736.5	protein_coding		4643		chr4	TogoVar

Search by Variant

Search

Search Results (Total: 3870 hits)