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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	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
GFOD1_chr6_13352830_13492600	13481570	CACACACA others(4): Show CACACACACACA	C C	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA19001.hp1 NA18986.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0113 a0001c0001t0138 a0001c0001t0113 a0001c0001t0138	a0001c0001t0113g0174 a0001c0001t0138g0210 a0001c0001t0113g0174 a0001c0001t0138g0210	2	230	0.0087	-11	c.253 others(28): Show c.253+5057_253+5067delTGTGTGTGTGT		GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1						chr6	TogoVar
GFPT1_chr2_69314780_69392227	69364994	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03041.hp2 HG02257.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0053 a0001c0001t0020g0054 a0001c0001t0020g0053 a0001c0001t0020g0054	2	366	0.0055	-11	c.224 others(28): Show c.224-1335_224-1325delTTTTTTTTTTT		GFPT1	ENSG00000198380.13	transcript	ENST00000357308.9	protein_coding	3/19						chr2	TogoVar
GFPT1_chr2_69314780_69392227	69387311	ACCGCTCA others(4): Show ACCGCTCACGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0086	1	366	0.0027	-11	c.-25 others(20): Show c.-251_-241delCGCGTGAGCGG		GFPT1	ENSG00000198380.13	transcript	ENST00000357308.9	protein_coding					85		chr2	TogoVar
GFPT2_chr5_180295698_180358336	180353382	AGGGCGGG others(4): Show AGGGCGGGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG00673.hp2 others(36): Show HG00639.hp1 HG00642.hp2 HG00673.hp2 HG01934.hp2 HG01978.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp2 HG02523.hp1 HG02738.hp2 HG03490.hp2 HG03492.hp2 HG03704.hp2 NA18945.hp1 NA18950.hp1 NA18951.hp1 NA18960.hp1 NA18962.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18981.hp2 NA18984.hp2 NA18990.hp2 NA18997.hp1 NA18998.hp1 NA19000.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19055.hp1 NA19070.hp1 NA19084.hp2 NA19090.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0003 a0001c0004 a0001c0005 others(4): Show a0001c0003 a0001c0004 a0001c0005 a0001c0019 a0002c0002 a0003c0006 a0006c0016	a0001c0003t0001 a0001c0004t0001 a0001c0004t0013 others(7): Show a0001c0003t0001 a0001c0004t0001 a0001c0004t0013 a0001c0004t0024 a0001c0005t0008 a0001c0019t0001 a0002c0002t0003 a0002c0002t0025 a0003c0006t0001 a0006c0016t0003	a0001c0003t0001g0065 a0001c0003t0001g0078 a0001c0003t0001g0085 others(35): Show a0001c0003t0001g0065 a0001c0003t0001g0078 a0001c0003t0001g0085 a0001c0003t0001g0086 a0001c0004t0001g0004 a0001c0004t0001g0056 a0001c0004t0001g0060 a0001c0004t0001g0061 a0001c0004t0001g0070 a0001c0004t0001g0071 a0001c0004t0001g0074 a0001c0004t0001g0075 a0001c0004t0001g0076 a0001c0004t0001g0077 a0001c0004t0001g0080 a0001c0004t0001g0081 a0001c0004t0001g0082 a0001c0004t0001g0083 a0001c0004t0001g0163 a0001c0004t0013g0051 a0001c0004t0013g0052 a0001c0004t0024g0072 a0001c0005t0008g0064 a0001c0005t0008g0079 a0001c0019t0001g0073 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0066 a0002c0002t0003g0067 a0002c0002t0003g0068 a0002c0002t0003g0069 a0002c0002t0003g0084 a0002c0002t0003g0161 a0002c0002t0003g0162 a0002c0002t0025g0251 a0003c0006t0001g0062 a0006c0016t0003g0063	39	412	0.0947	-11	c.-17 others(20): Show c.-176_-166delCTTCCCCGCCC		GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding					47		chr5	TogoVar
GFRA1_chr10_116051925_116278206	116053424	GGCTTTTG others(4): Show GGCTTTTGTCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02723.hp2 HG02896.hp1 HG02109.hp1 HG02723.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0033 a0001c0002t0033 a0001c0002t0091 a0001c0001t0033 a0001c0002t0033 a0001c0002t0091	a0001c0001t0033g0092 a0001c0002t0033g0044 a0001c0002t0091g0006 a0001c0001t0033g0092 a0001c0002t0033g0044 a0001c0002t0091g0006	3	214	0.0140	-11	c.10 others(24): Show c.10963_*10973delGTGACAAAAGC		GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding					3500		chr10	TogoVar
GFRA1_chr10_116051925_116278206	116096479	CTTCTTTT others(4): Show CTTCTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0007 a0001c0001t0090g0007	1	214	0.0047	-11	c.880 others(26): Show c.880+165_880+175delAAAAAAAAGAA		GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	7/10						chr10	TogoVar
GFRA1_chr10_116051925_116278206	116114728	TTCTGGGG others(4): Show TTCTGGGGGGTA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02055.hp2 NA19030.hp2 HG00738.hp2 HG02055.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0012 a0002c0003 a0001c0001 a0001c0012 a0002c0003	a0001c0001t0059 a0001c0012t0009 a0002c0003t0048 a0001c0001t0059 a0001c0012t0009 a0002c0003t0048	a0001c0001t0059g0146 a0001c0012t0009g0168 a0002c0003t0048g0171 a0001c0001t0059g0146 a0001c0012t0009g0168 a0002c0003t0048g0171	3	214	0.0140	-11	c.770 others(30): Show c.770+10482_770+10492delTACCCCCCAGA		GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	6/10						chr10	TogoVar
GFRA1_chr10_116051925_116278206	116116730	CTCTATTA others(4): Show CTCTATTATAAG	C C	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0186 a0001c0002t0003g0186	1	214	0.0047	-11	c.770 others(28): Show c.770+8480_770+8490delCTTATAATAGA		GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	6/10						chr10	TogoVar
GFRA1_chr10_116051925_116278206	116166804	TTTTTTTT others(4): Show TTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp1 HG00673.hp2 others(32): Show HG00423.hp1 HG00642.hp1 HG00673.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG02027.hp1 HG02040.hp1 HG02132.hp1 HG02615.hp2 HG02895.hp1 HG03041.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03492.hp1 HG03540.hp1 HG06807.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18975.hp1 NA18995.hp2 NA19009.hp1 NA19064.hp1 NA19070.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0006c0011	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(24): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0017 a0001c0001t0020 a0001c0001t0022 a0001c0001t0025 a0001c0001t0029 a0001c0001t0040 a0001c0001t0041 a0001c0001t0049 a0001c0001t0060 a0001c0001t0066 a0001c0001t0095 a0001c0001t0100 a0001c0001t0111 a0001c0001t0124 a0001c0001t0127 a0001c0002t0001 a0001c0002t0002 a0001c0002t0058 a0001c0002t0117 a0002c0003t0006 a0002c0003t0011 a0002c0003t0019 a0006c0011t0004	a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0090 others(32): Show a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0008g0035 a0001c0001t0010g0179 a0001c0001t0010g0185 a0001c0001t0015g0184 a0001c0001t0017g0211 a0001c0001t0020g0016 a0001c0001t0022g0155 a0001c0001t0022g0156 a0001c0001t0025g0119 a0001c0001t0029g0083 a0001c0001t0029g0121 a0001c0001t0040g0138 a0001c0001t0041g0140 a0001c0001t0049g0148 a0001c0001t0060g0144 a0001c0001t0066g0192 a0001c0001t0095g0120 a0001c0001t0100g0122 a0001c0001t0111g0114 a0001c0001t0124g0115 a0001c0001t0127g0132 a0001c0002t0001g0101 a0001c0002t0002g0026 a0001c0002t0002g0160 a0001c0002t0058g0213 a0001c0002t0117g0078 a0002c0003t0006g0103 a0002c0003t0011g0178 a0002c0003t0019g0135 a0002c0003t0019g0136 a0006c0011t0004g0127	35	214	0.1636	-11	c.434 others(30): Show c.434-41258_434-41248delCAAAAAAAAAA		GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	5/10						chr10	TogoVar
GFRA1_chr10_116051925_116278206	116194054	ATAAATAA others(4): Show ATAAATAAAATT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0160 a0001c0002t0002g0160	1	214	0.0047	-11	c.433 others(30): Show c.433+17566_433+17576delAATTTTATTTA		GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	5/10						chr10	TogoVar
GFRA1_chr10_116051925_116278206	116228980	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02717.hp1 HG03225.hp2 others(1): Show HG02647.hp1 HG02717.hp1 HG03225.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0016 a0001c0001t0018 others(1): Show a0001c0001t0003 a0001c0001t0016 a0001c0001t0018 a0002c0003t0092	a0001c0001t0003g0183 a0001c0001t0016g0153 a0001c0001t0018g0139 others(1): Show a0001c0001t0003g0183 a0001c0001t0016g0153 a0001c0001t0018g0139 a0002c0003t0092g0166	4	214	0.0187	-11	c.419 others(30): Show c.419-17346_419-17336delTTTTTTTTTTT		GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	4/10						chr10	TogoVar
GFRA1_chr10_116051925_116278206	116256964	CGAGAGAG others(4): Show CGAGAGAGCAGA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00438.hp2 others(56): Show HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01257.hp2 HG01258.hp2 HG01361.hp2 HG01496.hp2 HG01934.hp1 HG01981.hp1 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02155.hp2 HG02451.hp2 HG02622.hp2 HG02922.hp1 HG02970.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03540.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG04115.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18941.hp2 NA18950.hp1 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18989.hp2 NA18993.hp1 NA19011.hp2 NA19070.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0010 others(3): Show a0001c0001 a0001c0002 a0001c0010 a0001c0013 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(53): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0047 a0001c0001t0049 a0001c0001t0059 a0001c0001t0060 a0001c0001t0064 a0001c0001t0096 a0001c0001t0099 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0016 a0001c0002t0018 a0001c0002t0023 a0001c0002t0024 a0001c0002t0026 a0001c0002t0027 a0001c0002t0030 a0001c0002t0053 a0001c0002t0063 a0001c0002t0091 a0001c0002t0101 a0001c0002t0102 a0001c0002t0113 a0001c0002t0115 a0001c0002t0116 a0001c0002t0117 a0001c0002t0118 a0001c0002t0119 a0001c0002t0121 a0001c0002t0123 a0001c0010t0109 a0001c0013t0005 a0002c0003t0104 a0002c0003t0108 a0002c0004t0004 a0002c0004t0006 a0002c0004t0031	a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0004g0067 others(56): Show a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0004g0067 a0001c0001t0004g0076 a0001c0001t0004g0079 a0001c0001t0006g0061 a0001c0001t0011g0152 a0001c0001t0013g0143 a0001c0001t0014g0147 a0001c0001t0016g0153 a0001c0001t0018g0139 a0001c0001t0028g0065 a0001c0001t0029g0083 a0001c0001t0030g0080 a0001c0001t0032g0064 a0001c0001t0037g0137 a0001c0001t0038g0151 a0001c0001t0040g0138 a0001c0001t0041g0140 a0001c0001t0047g0169 a0001c0001t0049g0148 a0001c0001t0059g0146 a0001c0001t0060g0144 a0001c0001t0064g0154 a0001c0001t0096g0059 a0001c0001t0099g0071 a0001c0001t0130g0086 a0001c0001t0131g0093 a0001c0001t0132g0094 a0001c0002t0003g0141 a0001c0002t0005g0057 a0001c0002t0006g0053 a0001c0002t0016g0150 a0001c0002t0018g0149 a0001c0002t0023g0075 a0001c0002t0024g0073 a0001c0002t0026g0058 a0001c0002t0027g0052 a0001c0002t0030g0081 a0001c0002t0053g0145 a0001c0002t0063g0142 a0001c0002t0091g0006 a0001c0002t0101g0066 a0001c0002t0102g0054 a0001c0002t0113g0060 a0001c0002t0115g0056 a0001c0002t0116g0074 a0001c0002t0117g0078 a0001c0002t0118g0055 a0001c0002t0119g0084 a0001c0002t0121g0049 a0001c0002t0123g0050 a0001c0010t0109g0068 a0001c0013t0005g0062 a0002c0003t0104g0069 a0002c0003t0108g0072 a0002c0004t0004g0089 a0002c0004t0006g0070 a0002c0004t0031g0087	59	214	0.2757	-11	c.418 others(30): Show c.418+12528_418+12538delTCTGCTCTCTC		GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	4/10						chr10	TogoVar
GFRA2_chr8_21685398_21793875	21688456	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01891.hp2 NA18943.hp1 others(8): Show HG00408.hp2 HG01891.hp2 NA18943.hp1 NA18961.hp1 NA18971.hp2 NA18974.hp1 NA18995.hp2 NA19058.hp2 NA19060.hp1 NA19066.hp1 NA19090.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0007 a0003c0008 others(1): Show a0002c0002 a0002c0007 a0003c0008 a0003c0027	a0002c0002t0006 a0002c0002t0028 a0002c0007t0002 others(3): Show a0002c0002t0006 a0002c0002t0028 a0002c0007t0002 a0003c0008t0012 a0003c0008t0014 a0003c0027t0014	a0002c0002t0006g0110 a0002c0002t0028g0105 a0002c0007t0002g0022 others(8): Show a0002c0002t0006g0110 a0002c0002t0028g0105 a0002c0007t0002g0022 a0003c0008t0012g0216 a0003c0008t0012g0248 a0003c0008t0012g0256 a0003c0008t0012g0289 a0003c0008t0014g0101 a0003c0008t0014g0135 a0003c0008t0014g0137 a0003c0027t0014g0042	11	322	0.0342	-11	c.48 others(22): Show c.4811_*4821delTTTTTTTTTTT		GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding					1941		chr8	TogoVar
GFRA2_chr8_21685398_21793875	21714057	CTTCCCAG others(4): Show CTTCCCAGCACT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02647.hp1 HG02559.hp2 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0015 a0002c0002t0010 a0002c0002t0015	a0002c0002t0010g0185 a0002c0002t0015g0029 a0002c0002t0010g0185 a0002c0002t0015g0029	2	322	0.0062	-11	c.795 others(28): Show c.795-8027_795-8017delAGTGCTGGGAA		GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	4/8						chr8	TogoVar
GFRA2_chr8_21685398_21793875	21763999	ACACACAC others(4): Show ACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0048 a0002c0005t0002g0048	1	322	0.0031	-11	c.439 others(30): Show c.439+10962_439+10972delGTGTGTGTGTG		GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	3/8						chr8	TogoVar
GFRA3_chr5_138247380_138279621	138258166	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00544.hp2 others(101): Show HG00140.hp2 HG00438.hp1 HG00544.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01175.hp1 HG01257.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp2 HG01884.hp2 HG01943.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02965.hp1 HG03195.hp1 HG03239.hp2 HG03490.hp1 HG03516.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG04199.hp1 NA18950.hp2 NA18952.hp1 NA18955.hp2 NA18956.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18983.hp2 NA18987.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19055.hp2 NA19056.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19068.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19086.hp1 NA19089.hp1 NA19090.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0002t0001	a0001c0001t0001g0031 a0001c0001t0001g0076 a0001c0001t0001g0233 others(94): Show a0001c0001t0001g0031 a0001c0001t0001g0076 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0339 a0001c0001t0002g0341 a0001c0001t0002g0343 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0005g0253 a0001c0001t0005g0272 a0001c0001t0008g0340 a0001c0002t0001g0135 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241	104	376	0.2766	-11	c.473 others(26): Show c.473-226_473-216delAAAAAAAAAAA		GFRA3	ENSG00000146013.11	transcript	ENST00000274721.8	protein_coding	3/7						chr5	TogoVar
GFRAL_chr6_55322469_55407493	55337372	GTTTTCTT others(4): Show GTTTTCTTATAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00544.hp1 others(79): Show HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00735.hp1 HG00738.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01257.hp2 HG01496.hp1 HG01928.hp2 HG01952.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02293.hp2 HG03225.hp2 HG03486.hp1 HG03491.hp1 HG03927.hp1 HG06807.hp2 NA18612.hp2 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18968.hp2 NA18969.hp2 NA18975.hp1 NA18978.hp2 NA18980.hp2 NA18984.hp2 NA18986.hp2 NA18989.hp2 NA18992.hp1 NA18993.hp2 NA18995.hp1 NA19001.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19012.hp1 NA19057.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19075.hp2 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19086.hp2 NA19090.hp2 NA20129.hp1 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0004c0004t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(72): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0354 a0001c0001t0001g0365 a0001c0001t0003g0200 a0001c0001t0003g0214 a0001c0001t0003g0216 a0001c0001t0004g0023 a0001c0001t0004g0189 a0001c0001t0008g0163 a0004c0004t0002g0215	82	386	0.2124	-11	c.316 others(28): Show c.316+3430_316+3440delTTTCTTATAAT		GFRAL	ENSG00000187871.2	transcript	ENST00000340465.2	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
GFRAL_chr6_55322469_55407493	55353072	CAGTGAGG others(4): Show CAGTGAGGGTAG	C C	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0340 a0001c0001t0001g0340	1	386	0.0026	-11	c.701 others(28): Show c.701+1494_701+1504delAGGGTAGAGTG		GFRAL	ENSG00000187871.2	transcript	ENST00000340465.2	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
GFUS_chr8_143607618_143622549	143612439	TGCTGCCT others(4): Show TGCTGCCTGCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18995.hp1 NA18947.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	415	0.0048	-11	c.46 others(20): Show c.460_*470delGGGCAGGCAGC		GFUS	ENSG00000104522.16	transcript	ENST00000425753.7	protein_coding					178		chr8	TogoVar
GGA1_chr22_37603834_37638564	37604711	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	370	0.0027	-11	c.-41 others(22): Show c.-4149_-4139delTTTTTTTTTTT		GGA1	ENSG00000100083.19	transcript	ENST00000343632.9	protein_coding					4122		chr22	TogoVar
GGA3_chr17_75231599_75266606	75233426	TTTTATTT others(4): Show TTTTATTTTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG02809.hp1 HG02970.hp1 HG00639.hp2 HG02809.hp1 HG02970.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0006c0009t0001 a0001c0001t0001 a0006c0009t0001	a0001c0001t0001g0219 a0001c0001t0001g0221 a0006c0009t0001g0220 a0001c0001t0001g0219 a0001c0001t0001g0221 a0006c0009t0001g0220	3	364	0.0082	-11	c.48 others(22): Show c.4842_*4852delGAAAAAATAAA		GGA3	ENSG00000125447.18	transcript	ENST00000537686.6	protein_coding					3172		chr17	TogoVar
GGACT_chr13_100525180_100593789	100547365	TACTGATT others(4): Show TACTGATTGGGC	T T	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	376	0.0027	-11	c.-10 others(30): Show c.-10-14775_-10-14765delGCCCAATCAGT		GGACT	ENSG00000134864.11	transcript	ENST00000683975.1	protein_coding	2/2						chr13	TogoVar
GGACT_chr13_100525180_100593789	100585822	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00673.hp1 HG01358.hp1 others(39): Show HG00323.hp2 HG00673.hp1 HG01358.hp1 HG01891.hp2 HG02451.hp2 HG02523.hp1 HG03098.hp2 HG03540.hp1 HG04184.hp2 NA18939.hp1 NA18946.hp2 NA18952.hp1 NA18961.hp1 NA18963.hp1 NA18968.hp1 NA18969.hp2 NA18973.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18989.hp2 NA19004.hp1 NA19009.hp1 NA19011.hp2 NA19030.hp2 NA19054.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0014	a0001c0001t0001g0018 a0001c0001t0001g0044 a0001c0001t0001g0063 others(38): Show a0001c0001t0001g0018 a0001c0001t0001g0044 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0002g0065 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0010g0348 a0001c0001t0014g0351	42	376	0.1117	-11	c.-18 others(30): Show c.-183-1836_-183-1826delTTTTTTTTTTT		GGACT	ENSG00000134864.11	transcript	ENST00000683975.1	protein_coding	1/2						chr13	TogoVar
GGCT_chr7_30491621_30509829	30495981	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00741.hp2 HG01928.hp2 others(7): Show HG00558.hp2 HG00741.hp2 HG01928.hp2 HG02027.hp2 HG02148.hp2 HG03927.hp2 HG04184.hp2 NA18961.hp1 NA18988.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0041 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0041 a0001c0001t0001g0144 a0001c0001t0003g0004 a0001c0001t0003g0006	10	444	0.0225	-11	c.11 others(22): Show c.1100_*1110delAAAAAAAAAAA		GGCT	ENSG00000006625.18	transcript	ENST00000275428.9	protein_coding					639		chr7	TogoVar
GGCT_chr7_30491621_30509829	30502068	CTGTTCCT others(4): Show CTGTTCCTTGAT	C C	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0087 a0001c0001t0004g0087	1	444	0.0023	-11	c.142 others(28): Show c.142-1398_142-1388delATCAAGGAACA		GGCT	ENSG00000006625.18	transcript	ENST00000275428.9	protein_coding	1/3						chr7	TogoVar
GGNBP2_chr17_36539919_36594848	36548615	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02886.hp1 NA18971.hp2 others(2): Show HG02165.hp2 HG02886.hp1 NA18971.hp2 NA19010.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0272 a0001c0002t0003g0269 a0001c0002t0003g0270 others(2): Show a0001c0001t0001g0272 a0001c0002t0003g0269 a0001c0002t0003g0270 a0001c0002t0003g0271 a0001c0002t0003g0273	5	357	0.0140	-11	c.93+ others(26): Show c.93+2825_93+2835delAAAAAAAAAAA		GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
GGNBP2_chr17_36539919_36594848	36562953	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	357	0.0028	-11	c.527 others(28): Show c.527+2102_527+2112delAAAAAAAAAAA		GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
GGNBP2_chr17_36539919_36594848	36568042	CAGCGTCT others(4): Show CAGCGTCTCGAG	C C	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	357	0.0028	-11	c.641 others(26): Show c.641+267_641+277delAGCGTCTCGAG		GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	6/13						chr17	TogoVar
GGNBP2_chr17_36539919_36594848	36568059	GGGATTAC others(4): Show GGGATTACAGGC	G G	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	357	0.0028	-11	c.641 others(26): Show c.641+284_641+294delGGATTACAGGC		GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	6/13						chr17	TogoVar
GGNBP2_chr17_36539919_36594848	36576553	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01257.hp1 HG01258.hp2 others(1): Show HG01168.hp1 HG01257.hp1 HG01258.hp2 HG01516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0031 a0001c0002t0003g0033 a0001c0002t0003g0038 others(1): Show a0001c0002t0003g0031 a0001c0002t0003g0033 a0001c0002t0003g0038 a0001c0002t0003g0275	4	357	0.0112	-11	c.642 others(28): Show c.642-1408_642-1398delAAAAAAAAAAA		GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	6/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
GGT1_chr22_24598193_24633996	24605101	ATTATATT others(4): Show ATTATATTATAT	A A	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	426	0.0024	-11	c.-42 others(30): Show c.-429+1575_-429+1585delTTATATTATAT		GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15						chr22	TogoVar
GGT1_chr22_24598193_24633996	24605271	AATATGTA others(4): Show AATATGTATTAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01081.hp1 HG01496.hp2 others(21): Show HG00099.hp1 HG01081.hp1 HG01496.hp2 HG02040.hp2 HG02155.hp1 HG02257.hp2 HG02683.hp2 HG02818.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp1 NA18942.hp2 NA18964.hp1 NA18974.hp1 NA18985.hp2 NA18994.hp2 NA19002.hp1 NA19011.hp2 NA19060.hp1 NA19068.hp2 NA19091.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0018 a0002c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0018 a0002c0002t0002 a0002c0002t0016	a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 others(21): Show a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0302 a0001c0001t0002g0329 a0001c0001t0002g0333 a0001c0001t0002g0409 a0001c0001t0018g0296 a0002c0002t0002g0294 a0002c0002t0002g0297 a0002c0002t0002g0304 a0002c0002t0002g0311 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0331 a0002c0002t0002g0360 a0002c0002t0002g0381 a0002c0002t0002g0390 a0002c0002t0002g0404 a0002c0002t0016g0332	24	426	0.0563	-11	c.-42 others(30): Show c.-429+1749_-429+1759delGTATTATATAT		GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT1_chr22_24598193_24633996	24605292	AATATGTA others(4): Show AATATGTATTAT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03704.hp1 HG03688.hp2 HG03704.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0411 a0001c0006t0002g0412 a0001c0006t0002g0411 a0001c0006t0002g0412	2	426	0.0047	-11	c.-42 others(30): Show c.-429+1770_-429+1780delGTATTATATAT		GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT1_chr22_24598193_24633996	24605334	AATATGTA others(4): Show AATATGTATTAT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01358.hp1 HG01928.hp1 others(19): Show HG01261.hp2 HG01358.hp1 HG01928.hp1 HG01943.hp1 HG01978.hp1 HG02056.hp1 HG02165.hp2 HG02486.hp1 HG03139.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG04115.hp1 NA18943.hp2 NA18960.hp1 NA18960.hp2 NA18969.hp2 NA18973.hp2 NA18983.hp1 NA19011.hp1 NA19067.hp2 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0002c0014	a0001c0001t0002 a0001c0006t0002 a0002c0002t0001 others(3): Show a0001c0001t0002 a0001c0006t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0012 a0002c0014t0012	a0001c0001t0002g0299 a0001c0001t0002g0316 a0001c0001t0002g0330 others(19): Show a0001c0001t0002g0299 a0001c0001t0002g0316 a0001c0001t0002g0330 a0001c0001t0002g0334 a0001c0001t0002g0340 a0001c0006t0002g0411 a0001c0006t0002g0412 a0002c0002t0001g0383 a0002c0002t0002g0298 a0002c0002t0002g0315 a0002c0002t0002g0319 a0002c0002t0002g0320 a0002c0002t0002g0321 a0002c0002t0002g0327 a0002c0002t0002g0338 a0002c0002t0002g0339 a0002c0002t0002g0357 a0002c0002t0002g0393 a0002c0002t0002g0394 a0002c0002t0002g0399 a0002c0002t0012g0312 a0002c0014t0012g0341	22	426	0.0516	-11	c.-42 others(30): Show c.-429+1812_-429+1822delGTATTATATAT		GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT1_chr22_24598193_24633996	24605373	TATAATAT others(4): Show TATAATATTATA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0271 a0002c0002t0020g0271	1	426	0.0024	-11	c.-42 others(30): Show c.-429+1850_-429+1860delATATTATAATA		GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT1_chr22_24598193_24633996	24611532	TATCTATC others(4): Show TATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0273 a0001c0001t0008g0273	1	426	0.0024	-11	c.164 others(26): Show c.164+299_164+309delATCTATCTATC		GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT1_chr22_24598193_24633996	24614348	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0297 a0002c0002t0002g0297	1	426	0.0024	-11	c.165 others(26): Show c.165-409_165-399delAAAAAAAAAAA		GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT5_chr22_24214660_24250082	24228061	AAAAAACA others(4): Show AAAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0361 a0002c0002t0002g0361	1	420	0.0024	-11	c.902 others(28): Show c.902-1305_902-1295delGTTTTGTTTTT		GGT5	ENSG00000099998.19	transcript	ENST00000327365.10	protein_coding	6/11						chr22	TogoVar
GGT5_chr22_24214660_24250082	24241157	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	420	0.0024	-11	c.173 others(28): Show c.173+3385_173+3395delTTTTTTTTTTT		GGT5	ENSG00000099998.19	transcript	ENST00000327365.10	protein_coding	1/11						chr22	TogoVar
GGT6_chr17_4551927_4565577	4564693	CTTTCTTT others(4): Show CTTTCTTTCTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 NA19010.hp2 NA19085.hp2 HG01106.hp1 NA19010.hp2 NA19085.hp2	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0003 a0002c0003t0009 a0002c0005t0003 a0002c0003t0003 a0002c0003t0009 a0002c0005t0003	a0002c0003t0003g0004 a0002c0003t0009g0015 a0002c0005t0003g0007 a0002c0003t0003g0004 a0002c0003t0009g0015 a0002c0005t0003g0007	3	458	0.0066	-11	c.-41 others(22): Show c.-4183_-4173delAAAGAAAGAAA		GGT6	ENSG00000167741.11	transcript	ENST00000381550.8	protein_coding					4117		chr17	TogoVar
GGT7_chr20_34839720_34877856	34842277	GGAGGGGA others(4): Show GGAGGGGAAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG01074.hp2 HG01081.hp2 others(32): Show HG00423.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01175.hp1 HG01361.hp1 HG01515.hp2 HG01517.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02129.hp2 HG02273.hp2 HG02523.hp1 HG02622.hp2 HG02922.hp2 HG03195.hp2 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03704.hp1 HG06807.hp1 NA18939.hp1 NA18940.hp2 NA18954.hp2 NA18974.hp1 NA18979.hp2 NA18985.hp2 NA18987.hp1 NA19004.hp1 NA19030.hp1 NA19055.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 a0001c0002t0001 a0001c0002t0011 a0001c0010t0010	a0001c0001t0001g0017 a0001c0001t0001g0046 a0001c0001t0001g0047 others(25): Show a0001c0001t0001g0017 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0133 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0007g0042 a0001c0001t0007g0045 a0001c0001t0007g0192 a0001c0001t0007g0235 a0001c0001t0007g0240 a0001c0001t0007g0252 a0001c0001t0008g0043 a0001c0001t0008g0044 a0001c0001t0008g0236 a0001c0001t0008g0237 a0001c0001t0008g0239 a0001c0001t0008g0243 a0001c0001t0008g0248 a0001c0001t0010g0242 a0001c0001t0012g0241 a0001c0001t0014g0238 a0001c0001t0014g0246 a0001c0001t0018g0244 a0001c0001t0020g0253 a0001c0002t0001g0250 a0001c0002t0011g0249 a0001c0010t0010g0245	35	354	0.0989	-11	c.30 others(22): Show c.3040_*3050delTCCTTCCCCTC		GGT7	ENSG00000131067.17	transcript	ENST00000336431.10	protein_coding					2442		chr20	TogoVar
GGTLC2_chr22_22639614_22652898	22644882	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0125 a0002c0002t0002g0125	1	412	0.0024	-11	c.-35 others(26): Show c.-35+190_-35+200delTTTTTTTTTTT		GGTLC2	ENSG00000100121.14	transcript	ENST00000448514.3	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr22	TogoVar
GHDC_chr17_42184087_42199494	42186796	ATTTTCTT others(4): Show ATTTTCTTTTCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	374	0.0027	-11	c.28 others(22): Show c.2896_*2906delAGAAAAGAAAA		GHDC	ENSG00000167925.17	transcript	ENST00000587427.6	protein_coding					2290		chr17	TogoVar
GHRHR_chr7_30958953_30984528	30971149	TACACCGT others(4): Show TACACCGTGGGC	T T	frameshift_variant frameshift_variant	HIGH	NA18951.hp1 NA18951.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0001 a0010c0016t0001	a0010c0016t0001g0071 a0010c0016t0001g0071	1	422	0.0024	-11	c.398 others(18): Show c.398_408delACACCGTGGGC	p.Tyr others(5): Show p.Tyr133fs	GHRHR	ENSG00000106128.19	transcript	ENST00000326139.7	protein_coding	5/13	514/1672	398/1272	133/423			chr7	TogoVar
GHRH_chr20_37246086_37266814	37265573	AGGCCCTT others(4): Show AGGCCCTTCCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00741.hp2 HG01109.hp2 others(34): Show HG00639.hp1 HG00741.hp2 HG01109.hp2 HG01167.hp2 HG02055.hp2 HG02145.hp2 HG02280.hp1 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02723.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp2 HG03710.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19240.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0017 others(15): Show a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103	37	408	0.0907	-11	c.-38 others(22): Show c.-3861_-3851delCAGGAAGGGCC		GHRH	ENSG00000118702.11	transcript	ENST00000373614.7	protein_coding					3760		chr20	TogoVar
GHRL_chr3_10280666_10297947	10287913	AATTTTTT others(4): Show AATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG02258.hp2 others(4): Show HG01891.hp2 HG02257.hp1 HG02258.hp2 HG02615.hp2 HG02976.hp2 HG03098.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0091 a0001c0001t0003g0019 a0001c0001t0003g0175 a0001c0001t0001g0091 a0001c0001t0003g0019 a0001c0001t0003g0175	7	462	0.0152	-11	c.226 others(28): Show c.226-1112_226-1102delAAAAAAAAAAT		GHRL	ENSG00000157017.16	transcript	ENST00000335542.13	protein_coding	4/5						chr3	TogoVar
GHR_chr5_42418439_42726878	42569758	ATATGTAT others(4): Show ATATGTATATAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02055.hp1 HG02451.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0114 a0003c0005t0002g0142 a0003c0005t0002g0114 a0003c0005t0002g0142	2	210	0.0095	-11	c.70+ others(26): Show c.70+3818_70+3828delGTATATAGTAT		GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42614559	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp2 HG02723.hp1 others(1): Show HG01243.hp2 HG02258.hp2 HG02723.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0005 a0001c0001t0014 a0003c0005t0002 a0001c0001t0005 a0001c0001t0014 a0003c0005t0002	a0001c0001t0005g0080 a0001c0001t0014g0060 a0001c0001t0014g0087 others(1): Show a0001c0001t0005g0080 a0001c0001t0014g0060 a0001c0001t0014g0087 a0003c0005t0002g0201	4	210	0.0191	-11	c.71- others(28): Show c.71-14457_71-14447delTTTTTTTTTTT		GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
GHSR_chr3_172438291_172453456	172452627	CATGTGTG others(4): Show CATGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	446	0.0022	-11	c.-42 others(22): Show c.-4225_-4215delCACACACACAT		GHSR	ENSG00000121853.4	transcript	ENST00000241256.3	protein_coding					4172		chr3	TogoVar
GID4_chr17_18034408_18073405	18073216	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00558.hp1 others(121): Show HG00099.hp2 HG00280.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01123.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02615.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG03130.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03942.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18944.hp2 NA18949.hp2 NA18952.hp1 NA18953.hp2 NA18956.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp2 NA18971.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18990.hp1 NA18992.hp1 NA18995.hp1 NA18998.hp1 NA19004.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19060.hp2 NA19070.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(19): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0033 a0001c0001t0037 a0001c0001t0041 a0001c0001t0046 a0001c0002t0002 a0001c0002t0003 a0001c0002t0013 a0001c0005t0016 a0003c0003t0005	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(83): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0004g0005 a0001c0001t0004g0007 a0001c0001t0004g0009 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0064 a0001c0001t0004g0067 a0001c0001t0004g0069 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0005g0006 a0001c0001t0005g0011 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0047 a0001c0001t0005g0048 a0001c0001t0005g0052 a0001c0001t0005g0106 a0001c0001t0005g0112 a0001c0001t0007g0045 a0001c0001t0009g0001 a0001c0001t0009g0088 a0001c0001t0009g0094 a0001c0001t0009g0110 a0001c0001t0012g0013 a0001c0001t0014g0005 a0001c0001t0014g0030 a0001c0001t0014g0115 a0001c0001t0014g0125 a0001c0001t0016g0056 a0001c0001t0016g0057 a0001c0001t0018g0134 a0001c0001t0019g0119 a0001c0001t0019g0120 a0001c0001t0021g0113 a0001c0001t0023g0030 a0001c0001t0024g0005 a0001c0001t0033g0005 a0001c0001t0037g0124 a0001c0001t0041g0074 a0001c0001t0046g0058 a0001c0002t0002g0002 a0001c0002t0003g0033 a0001c0002t0013g0012 a0001c0005t0016g0055 a0003c0003t0005g0068	124	308	0.4026	-11	c.79 others(22): Show c.7974_*7984delTTTTTTTTTTT		GID4	ENSG00000141034.10	transcript	ENST00000268719.9	protein_coding					4812		chr17	TogoVar

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