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 (≤).

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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
GAL3ST2_chr2_241771822_241809287	241807892	TCCCTCCC others(41): Show TCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG02273.hp1 HG00323.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0195 a0001c0001t0001g0012 a0001c0001t0001g0195	2	314	0.0064	-48	c.37 others(59): Show c.3727_*3774delCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCC ACCCTCCCTCCCTC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3606		chr2	TogoVar
GAL3ST4_chr7_100154244_100173617	100172663	ATATATAT others(41): Show ATATATATATGTGTGTGTGTGTGTATATATATATACGTGTATATATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	402	0.0025	-48	c.-43 others(59): Show c.-4354_-4307delCATATATATACACGTATATATATATACACACACA CACACATATATATA	GAL3ST4	ENSG00000197093.11	transcript	ENST00000360039.9	protein_coding		4047		chr7	TogoVar
GALNT9_chr12_132191372_132334589	132230989	TGACAGAG others(41): Show TGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00733.hp2 HG01070.hp2 others(17): Show HG00140.hp1 HG00733.hp2 HG01070.hp2 HG01099.hp1 HG01192.hp2 HG01243.hp2 HG01346.hp2 HG01928.hp2 HG01981.hp2 HG02083.hp1 HG03209.hp2 HG03486.hp2 HG03492.hp2 HG03834.hp1 HG03834.hp2 HG06807.hp2 NA18950.hp2 NA18999.hp1 NA19091.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0027 a0001c0028 a0001c0040 a0002c0032	a0001c0001t0001 a0001c0001t0011 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0011 a0001c0002t0001 a0001c0002t0013 a0001c0003t0001 a0001c0005t0001 a0001c0007t0001 a0001c0007t0010 a0001c0027t0001 a0001c0028t0001 a0001c0040t0007 a0002c0032t0002	a0001c0001t0001g0019 a0001c0001t0001g0125 a0001c0001t0001g0136 others(17): Show a0001c0001t0001g0019 a0001c0001t0001g0125 a0001c0001t0001g0136 a0001c0001t0011g0050 a0001c0002t0001g0004 a0001c0002t0001g0058 a0001c0002t0001g0063 a0001c0002t0013g0021 a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0001g0103 a0001c0003t0001g0137 a0001c0005t0001g0031 a0001c0007t0001g0104 a0001c0007t0010g0108 a0001c0027t0001g0082 a0001c0028t0001g0144 a0001c0040t0007g0002 a0002c0032t0002g0167	20	183	0.1093	-48	c.107 others(69): Show c.1077+16873_1077+16920delGCCCCATCGAGTGTGTGGCACTAG GGACTCCACGCTGTCTCCTCTGTC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132231078	GATGGGGC others(41): Show GATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTACTGCCACACACTCC	G G	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02895.hp2 HG03139.hp1 others(2): Show HG02683.hp2 HG02895.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0026 a0005c0023	a0001c0001t0001 a0001c0002t0005 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0002t0005 a0001c0005t0001 a0001c0026t0014 a0005c0023t0005	a0001c0001t0001g0149 a0001c0002t0005g0066 a0001c0005t0001g0008 others(2): Show a0001c0001t0001g0149 a0001c0002t0005g0066 a0001c0005t0001g0008 a0001c0026t0014g0052 a0005c0023t0005g0028	5	183	0.0273	-48	c.107 others(69): Show c.1077+16784_1077+16831delGGAGTGTGTGGCAGTAGGGGCTCC ACGCTGTCTCCTCTGTCGCCCCAT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132231113	CTGCCACA others(41): Show CTGCCACACACTCCATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAG	C C	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19056.hp1 NA19085.hp2 NA18945.hp1 NA19056.hp1 NA19085.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0168 a0001c0009t0002g0174 a0001c0009t0002g0177 a0001c0009t0002g0168 a0001c0009t0002g0174 a0001c0009t0002g0177	3	183	0.0164	-48	c.107 others(69): Show c.1077+16749_1077+16796delCTAGGGGCTCCACGCTGTCTCCTC TGTCGCCCCATGGAGTGTGTGGCA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132231348	CCCCTAGT others(41): Show CCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02257.hp1 HG02965.hp1 others(1): Show HG01106.hp1 HG02257.hp1 HG02965.hp1 HG03225.hp2	a0001 a0001	a0001c0005 a0001c0007 a0001c0015 others(1): Show a0001c0005 a0001c0007 a0001c0015 a0001c0036	a0001c0005t0001 a0001c0007t0001 a0001c0015t0001 others(1): Show a0001c0005t0001 a0001c0007t0001 a0001c0015t0001 a0001c0036t0003	a0001c0005t0001g0088 a0001c0007t0001g0061 a0001c0015t0001g0067 others(1): Show a0001c0005t0001g0088 a0001c0007t0001g0061 a0001c0015t0001g0067 a0001c0036t0003g0055	4	183	0.0219	-48	c.107 others(69): Show c.1077+16514_1077+16561delACTCCACGCTGTCTCCTCTGTCGC CCCATCGAGTGTGTGGCACTAGGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132231498	CTGCCACA others(41): Show CTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAG	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0079	1	183	0.0055	-48	c.107 others(69): Show c.1077+16364_1077+16411delCTAGGGGCTCCACGCTGTCTCCTC TGTCGCCCCATCGAGTGTGTGGCA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132231777	CCCCTAGT others(41): Show CCCCTAGTGCTACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0152	1	183	0.0055	-48	c.107 others(69): Show c.1077+16085_1077+16132delACTCCACGCTGTCTCCTCTGTCGC CCCATCGAGTGTGTAGCACTAGGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132231787	TACACACT others(41): Show TACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCC	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02080.hp2 HG02165.hp2 others(20): Show HG02027.hp2 HG02080.hp2 HG02165.hp2 HG03492.hp1 HG03579.hp2 HG03942.hp1 HG06807.hp1 NA18747.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18961.hp2 NA18962.hp1 NA18966.hp2 NA18971.hp1 NA19004.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19063.hp2 NA19067.hp2 NA19070.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0009	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0001c0008t0002 a0001c0009t0002	a0001c0001t0001g0033 a0001c0002t0001g0053 a0001c0003t0001g0012 others(20): Show a0001c0001t0001g0033 a0001c0002t0001g0053 a0001c0003t0001g0012 a0001c0003t0001g0014 a0001c0003t0001g0041 a0001c0003t0001g0162 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0004t0001g0020 a0001c0004t0001g0056 a0001c0004t0001g0060 a0001c0004t0001g0076 a0001c0004t0001g0109 a0001c0004t0001g0112 a0001c0004t0001g0121 a0001c0004t0001g0154 a0001c0004t0001g0157 a0001c0005t0001g0026 a0001c0007t0001g0159 a0001c0008t0002g0170 a0001c0008t0002g0182 a0001c0009t0002g0169 a0001c0009t0002g0175	23	183	0.1257	-48	c.107 others(69): Show c.1077+16075_1077+16122delGGCACTAGGGACTCCACGCTGTCT CCTCTGTCGCCCCATCGAGTGTGT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132231975	GTGCCACA others(41): Show GTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTAC	G G	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	183	0.0055	-48	c.107 others(69): Show c.1077+15887_1077+15934delGTAGGGACTCCACACTGTCTCCTC TGTCGCCCCATCGAGTGTGTGGCA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132232023	CTGCCACA others(41): Show CTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAG	C C	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02080.hp2 HG02165.hp2 others(21): Show HG02027.hp2 HG02080.hp2 HG02165.hp2 HG03492.hp1 HG03579.hp2 HG03942.hp1 HG06807.hp1 NA18747.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18961.hp2 NA18962.hp1 NA18966.hp2 NA18971.hp1 NA19004.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19056.hp2 NA19063.hp2 NA19067.hp2 NA19070.hp2 NA19091.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0004c0024	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0001c0008t0002 a0001c0009t0002 a0004c0024t0001	a0001c0001t0001g0033 a0001c0002t0001g0053 a0001c0003t0001g0012 others(21): Show a0001c0001t0001g0033 a0001c0002t0001g0053 a0001c0003t0001g0012 a0001c0003t0001g0014 a0001c0003t0001g0041 a0001c0003t0001g0162 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0004t0001g0020 a0001c0004t0001g0056 a0001c0004t0001g0060 a0001c0004t0001g0076 a0001c0004t0001g0109 a0001c0004t0001g0112 a0001c0004t0001g0121 a0001c0004t0001g0154 a0001c0004t0001g0157 a0001c0005t0001g0026 a0001c0007t0001g0159 a0001c0008t0002g0170 a0001c0008t0002g0182 a0001c0009t0002g0169 a0001c0009t0002g0175 a0004c0024t0001g0160	24	183	0.1312	-48	c.107 others(69): Show c.1077+15839_1077+15886delCTAGGGGCTCCACGCTGTCTCCTC TGTCGCCCCATCGAGTGTGTGGCA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132232065	CCCCTAGT others(41): Show CCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00673.hp2 HG02083.hp2 others(2): Show HG00140.hp1 HG00673.hp2 HG02083.hp2 HG02735.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0009 others(1): Show a0001c0001 a0001c0007 a0001c0009 a0001c0012	a0001c0001t0001 a0001c0007t0001 a0001c0009t0002 others(1): Show a0001c0001t0001 a0001c0007t0001 a0001c0009t0002 a0001c0012t0002	a0001c0001t0001g0011 a0001c0001t0001g0062 a0001c0007t0001g0104 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0062 a0001c0007t0001g0104 a0001c0009t0002g0168 a0001c0012t0002g0180	5	183	0.0273	-48	c.107 others(69): Show c.1077+15797_1077+15844delACTCCACGCTGTCTCCTCTGTCGC CCCATCGAGTGTGTGGCACTAGGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132232289	GGACAGCG others(41): Show GGACAGCGTGGAGCCCCTAGTGCTACACACTCGATGGGGCGACAGAGGA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0098 a0001c0006t0001g0098	1	183	0.0055	-48	c.107 others(69): Show c.1077+15573_1077+15620delTCCTCTGTCGCCCCATCGAGTGTG TAGCACTAGGGGCTCCACGCTGTC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132232343	CGTGGAGT others(41): Show CGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0104 a0001c0007t0001g0104	1	183	0.0055	-48	c.107 others(69): Show c.1077+15519_1077+15566delACTGTCTCCTCTGTCGCCCCATCG AGTGTGTGGCACTAGGGACTCCAC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132232391	TGTGGAGT others(41): Show TGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGC	T T	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02148.hp1 HG02895.hp1 others(9): Show HG02080.hp2 HG02148.hp1 HG02895.hp1 HG03492.hp1 NA18747.hp2 NA18953.hp2 NA18966.hp2 NA19004.hp2 NA19011.hp1 NA19063.hp2 NA19070.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0001c0035	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0008t0002 a0001c0009t0002 a0001c0035t0009	a0001c0001t0001g0019 a0001c0002t0001g0034 a0001c0003t0001g0012 others(9): Show a0001c0001t0001g0019 a0001c0002t0001g0034 a0001c0003t0001g0012 a0001c0003t0001g0162 a0001c0003t0001g0165 a0001c0004t0001g0056 a0001c0004t0001g0060 a0001c0004t0001g0109 a0001c0005t0001g0026 a0001c0008t0002g0170 a0001c0009t0002g0169 a0001c0035t0009g0140	12	183	0.0656	-48	c.107 others(69): Show c.1077+15471_1077+15518delGCTGTCTCCTCTGTCGCCCCATCG AGTGTGTGGCACTAGGGACTCCAC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132232535	CGTGGAGT others(41): Show CGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0087 a0001c0010t0001g0087	1	183	0.0055	-48	c.107 others(69): Show c.1077+15327_1077+15374delACTGTCTCCTCTGTCGCCCCATCG AGTGTGTGGCACTAGGGACTCCAC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132232583	TGTGGAGT others(41): Show TGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0152	1	183	0.0055	-48	c.107 others(69): Show c.1077+15279_1077+15326delGCTGTCTCCTCTGTCGCCCCATCG AGTGTGTGGCACTAGGGACTCCAC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132232644	GTGCCACA others(41): Show GTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTAC	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA19056.hp1 HG06807.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0002 a0001c0001t0001 a0001c0009t0002	a0001c0001t0001g0033 a0001c0009t0002g0168 a0001c0001t0001g0033 a0001c0009t0002g0168	2	183	0.0109	-48	c.107 others(69): Show c.1077+15218_1077+15265delGTAGGGACTCCACACTGTCTCCTC TGTCGCCCCATCGAGTGTGTGGCA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132232727	CGTGGAGT others(41): Show CGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	183	0.0055	-48	c.107 others(69): Show c.1077+15135_1077+15182delACTGTCTCCTCTGTCGCCCCATCG AGTGTGTGGCACTAGGGACTCCAC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132232740	GTGCCACA others(41): Show GTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTAC	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01099.hp1 HG01106.hp2 others(25): Show HG01070.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp2 HG01928.hp1 HG01943.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02080.hp2 HG02083.hp1 HG02148.hp1 HG02165.hp1 HG02895.hp1 HG03017.hp2 HG03579.hp1 HG03834.hp1 HG06807.hp2 NA18950.hp2 NA18962.hp2 NA18966.hp2 NA18999.hp1 NA19004.hp2 NA19011.hp1 NA19070.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0001c0027 a0001c0031 a0001c0035	a0001c0001t0001 a0001c0002t0001 a0001c0002t0013 others(8): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0013 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0008t0002 a0001c0009t0002 a0001c0027t0001 a0001c0031t0001 a0001c0035t0009	a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0083 others(25): Show a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0083 a0001c0001t0001g0102 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0156 a0001c0002t0001g0004 a0001c0002t0001g0034 a0001c0002t0001g0058 a0001c0002t0001g0063 a0001c0002t0001g0071 a0001c0002t0001g0100 a0001c0002t0013g0021 a0001c0003t0001g0092 a0001c0003t0001g0139 a0001c0003t0001g0162 a0001c0004t0001g0060 a0001c0004t0001g0109 a0001c0005t0001g0031 a0001c0008t0002g0170 a0001c0008t0002g0171 a0001c0009t0002g0169 a0001c0027t0001g0082 a0001c0031t0001g0038 a0001c0035t0009g0140	28	183	0.1530	-48	c.107 others(69): Show c.1077+15122_1077+15169delGTAGGGACTCCACACTGTCTCCTC TGTCGCCCCATCGAGTGTGTGGCA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132232788	CTGCCACA others(41): Show CTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00673.hp2 HG01993.hp2 others(1): Show HG00280.hp2 HG00673.hp2 HG01993.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0002 a0001c0001t0001 a0001c0012t0002	a0001c0001t0001g0011 a0001c0001t0001g0062 a0001c0001t0001g0084 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0062 a0001c0001t0001g0084 a0001c0012t0002g0181	4	183	0.0219	-48	c.107 others(69): Show c.1077+15074_1077+15121delCTAGGGACTCCACGCTGTCTCCTC TGTCGCCCCATCGAGTGTGTGGCA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132232823	CGTGGAGT others(41): Show CGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGT	C C	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	183	0.0055	-48	c.107 others(69): Show c.1077+15039_1077+15086delACTGTCTCCTCTGTCGCCCCATCG AGTGTGTGGCACTAGGGACTCCAC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132232871	TGTGGAGT others(41): Show TGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp2 HG01433.hp1 others(11): Show HG00639.hp2 HG01070.hp2 HG01433.hp1 HG02080.hp2 HG03579.hp1 NA18950.hp1 NA18966.hp2 NA19002.hp1 NA19004.hp2 NA19007.hp2 NA19011.hp1 NA19070.hp2 NA19085.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0001c0018 a0001c0038	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0008t0002 a0001c0009t0002 a0001c0018t0001 a0001c0038t0001	a0001c0001t0001g0099 a0001c0001t0001g0136 a0001c0002t0001g0071 others(11): Show a0001c0001t0001g0099 a0001c0001t0001g0136 a0001c0002t0001g0071 a0001c0003t0001g0091 a0001c0003t0001g0162 a0001c0004t0001g0060 a0001c0004t0001g0109 a0001c0006t0001g0013 a0001c0008t0002g0170 a0001c0008t0002g0172 a0001c0008t0002g0173 a0001c0009t0002g0169 a0001c0018t0001g0039 a0001c0038t0001g0046	14	183	0.0765	-48	c.107 others(69): Show c.1077+14991_1077+15038delGCTGTCTCCTCTGTCGCCCCATCG AGTGTGTGGCACTAGGGACTCCAC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132233434	CAGAGGAG others(41): Show CAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAG	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01167.hp1 HG02148.hp2 others(3): Show HG00733.hp1 HG01167.hp1 HG02148.hp2 HG02735.hp2 HG02895.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0014 a0001c0021 a0001c0035	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0014t0003 a0001c0021t0004 a0001c0035t0009	a0001c0001t0001g0027 a0001c0002t0001g0068 a0001c0004t0001g0016 others(3): Show a0001c0001t0001g0027 a0001c0002t0001g0068 a0001c0004t0001g0016 a0001c0014t0003g0153 a0001c0021t0004g0155 a0001c0035t0009g0140	6	183	0.0328	-48	c.107 others(69): Show c.1077+14428_1077+14475delCTCACGCCATCGAGTGTGTGGCAC TAGGGACTCCACGCTGTCTCCTCT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132233626	CAGAGGAG others(41): Show CAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAG	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0004 a0001c0021t0004	a0001c0021t0004g0155 a0001c0021t0004g0155	1	183	0.0055	-48	c.107 others(69): Show c.1077+14236_1077+14283delCTCACGCCATCGAGTGTGTGGCAC TAGGGACTCCACGCTGTCTCCTCT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132233693	TCCCTAGT others(41): Show TCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0098 a0001c0006t0001g0098	1	183	0.0055	-48	c.107 others(69): Show c.1077+14169_1077+14216delGCTCCACGCTGTCTCCTCTGTCGC CCCATCGAGTGTGTGGCACTAGGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132233783	GTGGAGTC others(41): Show GTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	183	0.0055	-48	c.107 others(69): Show c.1077+14079_1077+14126delTGCTGTCTCCTCTGTCGCCCCATC GAGTGTGTGGCACTAGGGACTCCA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132234010	CAGAGGAG others(41): Show CAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAG	C C	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0098 a0001c0006t0001g0098	1	183	0.0055	-48	c.107 others(69): Show c.1077+13852_1077+13899delCTCACGCCATCGAGTGTGTGGCAC TAGGGACTCCACGCTGTCTCCTCT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132234058	GAGAGGAG others(41): Show GAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGAC	G G	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02738.hp1 HG02132.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0059 a0001c0001t0001g0064	2	183	0.0109	-48	c.107 others(69): Show c.1077+13804_1077+13851delGTCGCCCCATCGAGTGTGTGGCAC TAGGGACTCCACGCTGTCTCCTCT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132234407	GTGGAGTC others(41): Show GTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02040.hp2 HG02135.hp1 others(5): Show HG01109.hp1 HG02040.hp2 HG02135.hp1 HG03209.hp2 HG03492.hp2 HG03942.hp2 NA18906.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0001c0009 a0001c0025 a0001c0041	a0001c0001t0001 a0001c0001t0011 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0011 a0001c0002t0001 a0001c0007t0010 a0001c0009t0002 a0001c0025t0012 a0001c0041t0015	a0001c0001t0001g0111 a0001c0001t0001g0127 a0001c0001t0011g0050 others(5): Show a0001c0001t0001g0111 a0001c0001t0001g0127 a0001c0001t0011g0050 a0001c0002t0001g0152 a0001c0007t0010g0108 a0001c0009t0002g0177 a0001c0025t0012g0048 a0001c0041t0015g0178	8	183	0.0437	-48	c.107 others(69): Show c.1077+13455_1077+13502delTGCTGTCTCCTCTGTCGCCCCATC GAGTGTGTGGCACTAGGGACTCCA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132303584	CTCGCCCG others(41): Show CTCGCCCGGGCACACCCTCGCCCGGACACACCCTCACCCGGGCACAGAA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01943.hp1 HG00733.hp2 HG01943.hp1	a0001 a0002 a0001 a0002	a0001c0031 a0002c0032 a0001c0031 a0002c0032	a0001c0031t0001 a0002c0032t0002 a0001c0031t0001 a0002c0032t0002	a0001c0031t0001g0038 a0002c0032t0002g0167 a0001c0031t0001g0038 a0002c0032t0002g0167	2	183	0.0109	-48	c.239 others(67): Show c.239-17202_239-17155delTTCTGTGCCCGGGTGAGGGTGTGTCC GGGCGAGGGTGTGCCCGGGCGA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132303591	GGGCACAC others(41): Show GGGCACACCCTCGCCCGGACACACCCTCACCCGGGCACAGAATCGCCCA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02055.hp2 HG02135.hp2 others(8): Show HG01175.hp2 HG02055.hp2 HG02135.hp2 HG02148.hp2 HG02683.hp2 HG02965.hp2 HG03492.hp1 NA18953.hp2 NA19009.hp1 NA19085.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001	a0001c0001t0001g0017 a0001c0003t0001g0006 a0001c0003t0001g0007 others(8): Show a0001c0001t0001g0017 a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0012 a0001c0003t0001g0014 a0001c0004t0001g0016 a0001c0005t0001g0008 a0001c0005t0001g0018 a0001c0005t0001g0026 a0001c0006t0001g0013 a0001c0007t0001g0015	11	183	0.0601	-48	c.239 others(67): Show c.239-17209_239-17162delTGGGCGATTCTGTGCCCGGGTGAGGG TGTGTCCGGGCGAGGGTGTGCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132303846	CGGACACA others(41): Show CGGACACACCCTCGCCCAGACACACCCTCGCCTGGGCACAGCCTCACCG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0012 a0001c0025t0012	a0001c0025t0012g0048 a0001c0025t0012g0048	1	183	0.0055	-48	c.239 others(67): Show c.239-17464_239-17417delCGGTGAGGCTGTGCCCAGGCGAGGGT GTGTCTGGGCGAGGGTGTGTCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132304726	GGGGCACA others(41): Show GGGGCACACCCTCACCCAGACACAGCCTCGCCCGGGCACACCCTCACCC	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02809.hp2 HG02723.hp1 HG02809.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0078 a0001c0006t0001g0142 a0001c0006t0001g0078 a0001c0006t0001g0142	2	183	0.0109	-48	c.239 others(67): Show c.239-18344_239-18297delGGGTGAGGGTGTGCCCGGGCGAGGCT GTGTCTGGGTGAGGGTGTGCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132305123	ACCCGGGC others(41): Show ACCCGGGCACAGCCTCGCCCGGGCACACCCTCGCCTGGGCACAGCCTCG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	183	0.0055	-48	c.239 others(67): Show c.239-18741_239-18694delCGAGGCTGTGCCCAGGCGAGGGTGTG CCCGGGCGAGGCTGTGCCCGGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALNTL5_chr7_151951446_152024929	151981559	TTCCTTCC others(41): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCC	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02071.hp2 HG02135.hp2 others(15): Show HG02040.hp2 HG02071.hp2 HG02135.hp2 HG02155.hp2 HG02523.hp2 NA18747.hp2 NA18943.hp2 NA18947.hp1 NA18954.hp2 NA18975.hp2 NA18977.hp1 NA19004.hp2 NA19056.hp1 NA19057.hp2 NA19068.hp2 NA19074.hp2 NA19079.hp1 NA19087.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0008 a0002c0002 a0009c0008	a0002c0002t0001 a0002c0002t0002 a0009c0008t0001 others(1): Show a0002c0002t0001 a0002c0002t0002 a0009c0008t0001 a0009c0008t0002	a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0058 others(15): Show a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0058 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0002g0164 a0009c0008t0001g0091 a0009c0008t0002g0163	18	384	0.0469	-48	c.369 others(65): Show c.369-1402_369-1355delTCCTTCCCTCCTTCCTTCCTTCCCTCCT TCCTTCCTTCCTTCCTTCCT	GALNTL5	ENSG00000106648.15	transcript	ENST00000392800.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALR1_chr18_77244848_77282900	77252941	CCACCACC others(41): Show CCACCACCATCACCACCATCACCACCACCATCACCACCATCACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01258.hp1 NA18980.hp2 HG00280.hp2 HG01258.hp1 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0007 a0001c0002t0004 a0001c0002t0007	a0001c0002t0004g0147 a0001c0002t0007g0146 a0001c0002t0007g0148 a0001c0002t0004g0147 a0001c0002t0007g0146 a0001c0002t0007g0148	3	366	0.0082	-48	c.666 others(65): Show c.666+1736_666+1783delTCACCACCATCACCACCACCATCACCAC CATCACCACCATCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77252950	TCACCACC others(41): Show TCACCACCATCACCACCACCATCACCACCATCACCACCATCACCACCAC	T T	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA19088.hp2 NA18943.hp1 NA19088.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0007 a0001c0002 a0003c0007	a0001c0002t0024 a0003c0007t0053 a0001c0002t0024 a0003c0007t0053	a0001c0002t0024g0023 a0003c0007t0053g0132 a0001c0002t0024g0023 a0003c0007t0053g0132	2	366	0.0055	-48	c.666 others(65): Show c.666+1745_666+1792delTCACCACCACCATCACCACCATCACCAC CATCACCACCACCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77259150	CATGGTGG others(41): Show CATGGTGGTGATGATGGTGGTGATGATGGTGGTGATGATGGTGGTGATG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02723.hp2 HG02897.hp1 others(1): Show HG02145.hp1 HG02723.hp2 HG02897.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0042 a0001c0002t0051 a0001c0001t0003 a0001c0001t0042 a0001c0002t0051	a0001c0001t0003g0337 a0001c0001t0042g0157 a0001c0001t0042g0221 others(1): Show a0001c0001t0003g0337 a0001c0001t0042g0157 a0001c0001t0042g0221 a0001c0002t0051g0161	4	366	0.0109	-48	c.732 others(65): Show c.732+2936_732+2983delGATGATGGTGGTGATGATGGTGGTGATG ATGGTGGTGATGATGGTGGT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GARIN2_chr14_67184440_67228940	67193268	CTATCTAT others(41): Show CTATCTATATATCTCTATATAGACATCTATCTATATATCTCTATATAGA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01433.hp1 HG01496.hp1 others(8): Show HG00673.hp1 HG01433.hp1 HG01496.hp1 HG02071.hp2 HG02109.hp1 HG02922.hp2 HG02970.hp2 HG03834.hp1 NA18991.hp2 NA19003.hp1 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0052 a0001c0002t0001g0114 a0001c0002t0001g0176 others(8): Show a0001c0002t0001g0052 a0001c0002t0001g0114 a0001c0002t0001g0176 a0001c0002t0001g0204 a0001c0002t0001g0236 a0001c0002t0001g0255 a0001c0005t0001g0136 a0001c0005t0001g0235 a0001c0005t0001g0247 a0001c0005t0001g0254 a0001c0005t0001g0256	11	332	0.0331	-48	c.-11 others(67): Show c.-114+3722_-114+3769delCATCTATCTATATATCTCTATATAGA TATCTATATATCTCTATATAGA	GARIN2	ENSG00000172717.17	transcript	ENST00000696955.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
GARIN5A_chr19_50461788_50481848	50471642	ATATACGC others(41): Show ATATACGCATACATGCACGTGTGTGTATACGCATACATGCACGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	414	0.0024	-48	c.539 others(65): Show c.539+3635_539+3682delCACACACGTGCATGTATGCGTATACACA CACGTGCATGTATGCGTATA	GARIN5A	ENSG00000142530.11	transcript	ENST00000600100.6	protein_coding	3/4			chr19	TogoVar
GARIN5A_chr19_50461788_50481848	50471707	CGTGTGTG others(41): Show CGTGTGTGTATACGCATACATGCACGTGTGTGTATACGCATACATGCAT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	414	0.0024	-48	c.539 others(65): Show c.539+3570_539+3617delATGCATGTATGCGTATACACACACGTGC ATGTATGCGTATACACACAC	GARIN5A	ENSG00000142530.11	transcript	ENST00000600100.6	protein_coding	3/4			chr19	TogoVar
GATB_chr4_151665504_151766007	151732007	TGGGGGGT others(41): Show TGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA19043.hp1 HG03209.hp2 NA19043.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0190 a0004c0008t0001g0191 a0004c0008t0001g0190 a0004c0008t0001g0191	2	320	0.0063	-48	c.328 others(67): Show c.328-12517_328-12470delCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGCTGACCCCCC	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	2/12			chr4	TogoVar
GCGR_chr17_81799150_81819008	81805543	CCCTCCCA others(41): Show CCCTCCCATTGGGCACCTCGGGAACCCCCCACATTGGGCACCTCGGGAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02895.hp2 HG02897.hp2 others(2): Show HG02109.hp2 HG02895.hp2 HG02897.hp2 HG03540.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(1): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0002c0005t0001g0023	5	408	0.0123	-48	c.-17 others(67): Show c.-178+1297_-178+1344delTCCCATTGGGCACCTCGGGAACCCCC CACATTGGGCACCTCGGGAACC	GCGR	ENSG00000215644.10	transcript	ENST00000400723.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
GCNT3_chr15_59606783_59627723	59610177	GCCTGCCT others(41): Show GCCTGCCTGCCTGCCTGCCTGCCTTCCTTCCTTCCTTCCTTCCTTCCTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00558.hp2 others(76): Show HG00323.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00673.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG02040.hp1 HG02040.hp2 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG02683.hp1 HG02738.hp2 HG03453.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG04115.hp2 NA18939.hp2 NA18942.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18974.hp1 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19005.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19074.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19084.hp1 NA19088.hp1 NA20905.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0009 a0001c0001 a0001c0002 a0006c0009	a0001c0001t0013 a0001c0001t0014 a0001c0001t0035 others(25): Show a0001c0001t0013 a0001c0001t0014 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009 a0001c0002t0011 a0001c0002t0012 a0001c0002t0014 a0001c0002t0019 a0001c0002t0020 a0001c0002t0024 a0001c0002t0033 a0001c0002t0092 a0001c0002t0093 a0001c0002t0094 a0001c0002t0095 a0001c0002t0096 a0001c0002t0099 a0001c0002t0100 a0001c0002t0102 a0001c0002t0104 a0006c0009t0013	a0001c0001t0013g0002 a0001c0001t0013g0020 a0001c0001t0014g0002 others(44): Show a0001c0001t0013g0002 a0001c0001t0013g0020 a0001c0001t0014g0002 a0001c0001t0014g0020 a0001c0001t0035g0012 a0001c0001t0035g0028 a0001c0001t0036g0002 a0001c0001t0036g0028 a0001c0001t0037g0002 a0001c0001t0037g0029 a0001c0001t0107g0047 a0001c0001t0108g0002 a0001c0001t0109g0116 a0001c0002t0005g0002 a0001c0002t0005g0012 a0001c0002t0005g0030 a0001c0002t0008g0002 a0001c0002t0008g0010 a0001c0002t0008g0012 a0001c0002t0008g0027 a0001c0002t0008g0045 a0001c0002t0009g0002 a0001c0002t0009g0010 a0001c0002t0009g0049 a0001c0002t0009g0050 a0001c0002t0011g0002 a0001c0002t0011g0029 a0001c0002t0012g0002 a0001c0002t0012g0012 a0001c0002t0012g0044 a0001c0002t0014g0007 a0001c0002t0019g0002 a0001c0002t0020g0002 a0001c0002t0020g0010 a0001c0002t0024g0010 a0001c0002t0024g0043 a0001c0002t0033g0002 a0001c0002t0092g0115 a0001c0002t0093g0002 a0001c0002t0094g0027 a0001c0002t0095g0114 a0001c0002t0096g0002 a0001c0002t0099g0002 a0001c0002t0100g0002 a0001c0002t0102g0046 a0001c0002t0104g0010 a0006c0009t0013g0002	79	428	0.1846	-48	c.-20 others(59): Show c.-2054_-2007delCCTGCCTGCCTGCCTGCCTGCCTTCCTTCCTTCC TTCCTTCCTTCCTT	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		1605		chr15	TogoVar
GCNT3_chr15_59606783_59627723	59610627	CTCCTTCC others(41): Show CTCCTTCCCTCTCTCCATCCCTCCCTCCTTCCTTCCTTCCCTCCCTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00558.hp2 others(79): Show HG00323.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00673.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG02040.hp1 HG02040.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02572.hp1 HG02683.hp1 HG02738.hp2 HG03453.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 NA18939.hp2 NA18942.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18974.hp1 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19057.hp1 NA19058.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19074.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19084.hp1 NA19088.hp1 NA19091.hp1 NA20905.hp1	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0001c0002 a0006c0009 others(1): Show a0001c0001 a0001c0002 a0006c0009 a0009c0010	a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 others(25): Show a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0107 a0001c0001t0108 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009 a0001c0002t0011 a0001c0002t0012 a0001c0002t0019 a0001c0002t0020 a0001c0002t0024 a0001c0002t0033 a0001c0002t0093 a0001c0002t0094 a0001c0002t0095 a0001c0002t0096 a0001c0002t0098 a0001c0002t0099 a0001c0002t0100 a0001c0002t0102 a0001c0002t0104 a0006c0009t0013 a0009c0010t0005	a0001c0001t0005g0010 a0001c0001t0013g0002 a0001c0001t0013g0020 others(43): Show a0001c0001t0005g0010 a0001c0001t0013g0002 a0001c0001t0013g0020 a0001c0001t0014g0002 a0001c0001t0014g0020 a0001c0001t0035g0012 a0001c0001t0035g0028 a0001c0001t0036g0002 a0001c0001t0036g0028 a0001c0001t0037g0002 a0001c0001t0037g0029 a0001c0001t0107g0047 a0001c0001t0108g0002 a0001c0002t0005g0002 a0001c0002t0005g0012 a0001c0002t0008g0002 a0001c0002t0008g0010 a0001c0002t0008g0012 a0001c0002t0008g0027 a0001c0002t0008g0045 a0001c0002t0009g0002 a0001c0002t0009g0010 a0001c0002t0009g0049 a0001c0002t0009g0050 a0001c0002t0011g0002 a0001c0002t0011g0029 a0001c0002t0012g0002 a0001c0002t0012g0012 a0001c0002t0012g0044 a0001c0002t0019g0002 a0001c0002t0020g0002 a0001c0002t0020g0010 a0001c0002t0024g0010 a0001c0002t0024g0043 a0001c0002t0033g0002 a0001c0002t0093g0002 a0001c0002t0094g0027 a0001c0002t0095g0114 a0001c0002t0096g0002 a0001c0002t0098g0002 a0001c0002t0099g0002 a0001c0002t0100g0002 a0001c0002t0102g0046 a0001c0002t0104g0010 a0006c0009t0013g0002 a0009c0010t0005g0002	82	428	0.1916	-48	c.-16 others(59): Show c.-1604_-1557delTCCTTCCCTCTCTCCATCCCTCCCTCCTTCCTTC CTTCCCTCCCTCTT	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		1155		chr15	TogoVar
GCNT3_chr15_59606783_59627723	59610874	CCCTCCCC others(41): Show CCCTCCCCTTCTCTCCCTCCCCCTCCCCTCTGCCTCCCCCTCCCCTCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02257.hp2 HG02630.hp2 others(2): Show HG01891.hp1 HG02257.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0054 a0001c0002t0034 a0001c0002t0105 others(1): Show a0001c0001t0054 a0001c0002t0034 a0001c0002t0105 a0001c0002t0106	a0001c0001t0054g0110 a0001c0002t0034g0112 a0001c0002t0034g0113 others(2): Show a0001c0001t0054g0110 a0001c0002t0034g0112 a0001c0002t0034g0113 a0001c0002t0105g0111 a0001c0002t0106g0109	5	428	0.0117	-48	c.-13 others(59): Show c.-1357_-1310delCCTCCCCTTCTCTCCCTCCCCCTCCCCTCTGCCT CCCCCTCCCCTCTG	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		908		chr15	TogoVar
GDF7_chr2_20662144_20684243	20671688	GGCGCCCA others(41): Show GGCGCCCACTGCCCCCATTTAGGGAGAGGAAGGTGTTTGTGCTGATGTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0104	a0001c0001t0104g0001 a0001c0001t0104g0001	1	442	0.0023	-48	c.26 others(57): Show c.266_*313delGCCCACTGCCCCCATTTAGGGAGAGGAAGGTGTTTG TGCTGATGTTGC	GDF7	ENSG00000143869.7	transcript	ENST00000272224.5	protein_coding	2/2	266	INFO_REALIGN_3_PRIME	chr2	TogoVar
GEMIN4_chr17_739421_757264	748955	GGATAATG others(41): Show GGATAATGGGCACAGAGCAATCACACGGCCACAGGGTAATGGGCACAGC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	434	0.0023	-48	c.11- others(61): Show c.11-971_11-924delGCTGTGCCCATTACCCTGTGGCCGTGTGATTG CTCTGTGCCCATTATC	GEMIN4	ENSG00000179409.11	transcript	ENST00000319004.6	protein_coding	1/1			chr17	TogoVar
GGACT_chr13_100525180_100593789	100550362	CCCTTCTA others(41): Show CCCTTCTAAGGAAACTGGATGCGCTGAATGAATTAAATCCGAGCCGATT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0027 a0001c0001t0005g0027	1	376	0.0027	-48	c.-10 others(67): Show c.-10-17809_-10-17762delAATCGGCTCGGATTTAATTCATTCAG CGCATCCAGTTTCCTTAGAAGG	GGACT	ENSG00000134864.11	transcript	ENST00000683975.1	protein_coding	2/2			chr13	TogoVar

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Search Results (Total: 2076 hits)