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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GLTP_chr12_109845945_109885541	109849693	T T	TAAGCTCT others(12): Show TAAGCTCTATAGGAGCAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	322	0.0031	19	c.28 others(30): Show c.2861_*2862insTCCTGCTCCTATAGAGCTT	GLTP	ENSG00000139433.11	transcript	ENST00000318348.9	protein_coding		1251		chr12	TogoVar
GMCL1_chr2_69824660_69886384	69838336	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0108 a0001c0001t0003g0108	1	390	0.0026	19	c.384 others(34): Show c.384+676_384+694dupAAAAAAAAAAAAAAAAAAA	GMCL1	ENSG00000087338.5	transcript	ENST00000282570.4	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
GMCL1_chr2_69824660_69886384	69859742	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0087	1	390	0.0026	19	c.107 others(38): Show c.1073-1520_1073-1519insAAAAAAAAAAAAAAAAAAA	GMCL1	ENSG00000087338.5	transcript	ENST00000282570.4	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
GMCL2_chr5_178179505_178192371	178187475	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02735.hp2 HG03195.hp2 others(3): Show HG02451.hp2 HG02735.hp2 HG03195.hp2 HG04199.hp1 HG04228.hp1 NA18982.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0002 a0004c0004t0005 a0002c0002t0002 a0004c0004t0005	a0002c0002t0002g0000 a0004c0004t0005g0000 a0002c0002t0002g0000 a0004c0004t0005g0000	6	452	0.0133	19	c.-17 others(28): Show c.-177_-176insAAAAAAAAAAAAAAAAAAA	GMCL2	ENSG00000244234.3	transcript	ENST00000463439.3	protein_coding		105		chr5	TogoVar
GMDS_chr6_1618806_2250605	2052116	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02040.hp2 HG03491.hp1 HG02027.hp2 HG02040.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0002t0001g0020 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0002t0001g0020	3	166	0.0181	19	c.345 others(38): Show c.345+63654_345+63655insTTTTTTTTTTTTTTTTTTT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2059707	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01496.hp2 HG02055.hp2 others(11): Show HG00639.hp2 HG01496.hp2 HG02055.hp2 HG02559.hp2 HG02615.hp2 HG02717.hp2 HG02922.hp1 HG02965.hp2 HG03139.hp2 HG03453.hp1 HG03540.hp2 NA18941.hp1 NA19063.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0091 others(11): Show a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0091 a0001c0001t0001g0107 a0001c0001t0001g0163 a0001c0001t0002g0043 a0001c0001t0002g0072 a0001c0002t0001g0015 a0001c0002t0001g0075 a0001c0002t0001g0080 a0001c0002t0001g0100 a0001c0002t0001g0151 a0001c0002t0002g0008 a0001c0002t0002g0059	14	166	0.0843	19	c.345 others(38): Show c.345+56045_345+56063dupTTTTTTTTTTTTTTTTTTT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GML_chr8_142829801_142851851	142843299	C C	CACACACA others(12): Show CACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	422	0.0024	19	c.181 others(36): Show c.181+2074_181+2075insACACACACACACACACACA	GML	ENSG00000104499.7	transcript	ENST00000220940.2	protein_coding	3/3			chr8	TogoVar
GMNC_chr3_190847737_190867694	190858045	T T	TAAATTAA others(12): Show TAAATTAAATCTACATCCCC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	488	0.0021	19	c.268 others(34): Show c.268-165_268-147dupGGGGATGTAGATTTAATTT	GMNC	ENSG00000205835.9	transcript	ENST00000442080.6	protein_coding	3/4			chr3	TogoVar
GMPR2_chr14_24227929_24244242	24228108	A A	ATGAGGCC others(12): Show ATGAGGCCAGGCGCGGTGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	420	0.0024	19	c.-49 others(30): Show c.-4905_-4904insTGAGGCCAGGCGCGGTGGC	GMPR2	ENSG00000100938.19	transcript	ENST00000399440.7	protein_coding		4820		chr14	TogoVar
GNA14_chr9_77418079_77653322	77493026	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0075	1	240	0.0042	19	c.309 others(38): Show c.309+36042_309+36043insATATATATATATATATTTT	GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	2/6			chr9	TogoVar
GNA14_chr9_77418079_77653322	77493026	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	1	240	0.0042	19	c.309 others(38): Show c.309+36042_309+36043insATATATATATATATATATT	GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	2/6			chr9	TogoVar
GNA14_chr9_77418079_77653322	77515960	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	240	0.0042	19	c.309 others(38): Show c.309+13090_309+13108dupTTTTTTTTTTTTTTTTTTT	GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	2/6			chr9	TogoVar
GNA15_chr19_3131033_3168749	3145359	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA18952.hp1 HG03491.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0104 a0001c0002t0001g0079 a0001c0001t0001g0104 a0001c0002t0001g0079	2	450	0.0044	19	c.146 others(36): Show c.146-3231_146-3230insATATATATATATATATATT	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNA15_chr19_3131033_3168749	3145359	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01975.hp1 HG04184.hp2 others(4): Show HG01074.hp2 HG01975.hp1 HG04184.hp2 NA18941.hp2 NA18983.hp1 NA19079.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0153 others(4): Show a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0003t0001g0074	7	450	0.0156	19	c.146 others(36): Show c.146-3231_146-3230insATATATATATATATATTTT	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNA15_chr19_3131033_3168749	3145360	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA18994.hp1 NA19010.hp2 HG02273.hp1 NA18994.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0403 a0001c0001t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0403	3	450	0.0067	19	c.146 others(36): Show c.146-3231_146-3230insATATATATATATATATATA	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6			chr19	TogoVar
GNAI1_chr7_80129831_80231181	80200324	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0237 a0001c0001t0040g0237	1	312	0.0032	19	c.461 others(34): Show c.461+947_461+965dupAAAAAAAAAAAAAAAAAAA	GNAI1	ENSG00000127955.17	transcript	ENST00000649796.2	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
GNAL_chr18_11684264_11890685	11747605	A A	AGGATAGG others(12): Show AGGATAGGGGTACTGGGGAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00423.hp2 others(59): Show HG00099.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG01099.hp2 HG01243.hp1 HG01243.hp2 HG01433.hp2 HG01891.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02683.hp2 HG02717.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03490.hp2 HG03516.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18945.hp2 NA18947.hp2 NA18950.hp2 NA18962.hp1 NA18965.hp1 NA18970.hp1 NA18974.hp1 NA18977.hp1 NA18978.hp2 NA18983.hp1 NA18986.hp1 NA18994.hp1 NA19000.hp2 NA19004.hp2 NA19010.hp1 NA19090.hp1 NA20129.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(55): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0030 a0001c0001t0033 a0001c0001t0036 a0001c0001t0045 a0001c0001t0057 a0001c0001t0059 a0001c0001t0072 a0001c0001t0074 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0083 a0001c0001t0084 a0001c0001t0089 a0001c0001t0090 a0001c0001t0094 a0001c0001t0095 a0001c0001t0100 a0001c0001t0102 a0001c0001t0106 a0001c0001t0113 a0001c0001t0118 a0001c0001t0124 a0001c0001t0127 a0001c0001t0130 a0001c0001t0131 a0001c0001t0134 a0001c0001t0136 a0001c0001t0137 a0001c0001t0138 a0001c0001t0141 a0001c0001t0147 a0001c0001t0149 a0001c0001t0151 a0001c0001t0159 a0001c0001t0172 a0001c0001t0180 a0001c0001t0181 a0001c0001t0182 a0002c0002t0038 a0002c0002t0039 a0002c0002t0044 a0002c0002t0046 a0003c0003t0049 a0003c0003t0054 a0003c0003t0067 a0004c0004t0043	a0001c0001t0001g0112 a0001c0001t0002g0215 a0001c0001t0002g0223 others(59): Show a0001c0001t0001g0112 a0001c0001t0002g0215 a0001c0001t0002g0223 a0001c0001t0004g0180 a0001c0001t0004g0183 a0001c0001t0006g0239 a0001c0001t0007g0125 a0001c0001t0008g0129 a0001c0001t0015g0181 a0001c0001t0017g0184 a0001c0001t0017g0201 a0001c0001t0018g0128 a0001c0001t0019g0107 a0001c0001t0019g0130 a0001c0001t0030g0012 a0001c0001t0033g0018 a0001c0001t0036g0066 a0001c0001t0045g0063 a0001c0001t0057g0064 a0001c0001t0059g0062 a0001c0001t0072g0197 a0001c0001t0074g0151 a0001c0001t0078g0098 a0001c0001t0079g0099 a0001c0001t0080g0108 a0001c0001t0081g0109 a0001c0001t0083g0142 a0001c0001t0084g0135 a0001c0001t0089g0177 a0001c0001t0090g0123 a0001c0001t0094g0111 a0001c0001t0095g0231 a0001c0001t0100g0132 a0001c0001t0102g0131 a0001c0001t0106g0211 a0001c0001t0113g0237 a0001c0001t0118g0210 a0001c0001t0124g0196 a0001c0001t0127g0209 a0001c0001t0130g0185 a0001c0001t0131g0156 a0001c0001t0134g0188 a0001c0001t0136g0221 a0001c0001t0137g0238 a0001c0001t0138g0186 a0001c0001t0141g0195 a0001c0001t0147g0236 a0001c0001t0149g0160 a0001c0001t0151g0213 a0001c0001t0159g0072 a0001c0001t0172g0094 a0001c0001t0180g0071 a0001c0001t0181g0070 a0001c0001t0182g0075 a0002c0002t0038g0051 a0002c0002t0039g0095 a0002c0002t0044g0049 a0002c0002t0046g0050 a0003c0003t0049g0089 a0003c0003t0054g0055 a0003c0003t0067g0056 a0004c0004t0043g0007	62	248	0.2500	19	c.377 others(36): Show c.377-5219_377-5201dupTACTGGGGATGGATAGGGG	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11747085_11890685	11747605	A A	AGGATAGG others(12): Show AGGATAGGGGTACTGGGGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00609.hp2 others(76): Show HG00099.hp1 HG00438.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG01099.hp1 HG01243.hp1 HG01243.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02523.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02683.hp1 HG02717.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03490.hp2 HG03516.hp1 HG03831.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18945.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18962.hp2 NA18965.hp1 NA18974.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18985.hp1 NA18986.hp2 NA18988.hp2 NA18990.hp1 NA18994.hp2 NA19000.hp1 NA19004.hp1 NA19010.hp2 NA19054.hp1 NA19054.hp2 NA19064.hp2 NA19077.hp2 NA19078.hp1 NA19090.hp2 NA20129.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(61): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0037 a0001c0001t0038 a0001c0001t0041 a0001c0001t0044 a0001c0001t0047 a0001c0001t0052 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0063 a0001c0001t0067 a0001c0001t0072 a0001c0001t0073 a0001c0001t0075 a0001c0001t0077 a0001c0001t0078 a0001c0001t0082 a0001c0001t0093 a0001c0001t0095 a0001c0001t0100 a0001c0001t0102 a0001c0001t0103 a0001c0001t0107 a0001c0001t0110 a0001c0001t0112 a0001c0001t0126 a0001c0001t0127 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0135 a0001c0001t0149 a0001c0001t0157 a0001c0001t0158 a0001c0001t0160 a0001c0001t0163 a0001c0001t0165 a0001c0001t0168 a0001c0001t0171 a0002c0004t0014	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0018 others(76): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0002g0006 a0001c0001t0002g0042 a0001c0001t0004g0005 a0001c0001t0004g0062 a0001c0001t0005g0055 a0001c0001t0005g0236 a0001c0001t0006g0029 a0001c0001t0006g0234 a0001c0001t0007g0049 a0001c0001t0008g0013 a0001c0001t0008g0016 a0001c0001t0008g0030 a0001c0001t0009g0241 a0001c0001t0011g0045 a0001c0001t0014g0037 a0001c0001t0016g0001 a0001c0001t0016g0011 a0001c0001t0021g0247 a0001c0001t0021g0248 a0001c0001t0022g0004 a0001c0001t0023g0041 a0001c0001t0024g0020 a0001c0001t0025g0272 a0001c0001t0026g0022 a0001c0001t0026g0023 a0001c0001t0028g0034 a0001c0001t0028g0240 a0001c0001t0029g0050 a0001c0001t0029g0051 a0001c0001t0030g0017 a0001c0001t0032g0033 a0001c0001t0033g0021 a0001c0001t0037g0245 a0001c0001t0038g0024 a0001c0001t0041g0057 a0001c0001t0044g0237 a0001c0001t0047g0244 a0001c0001t0052g0058 a0001c0001t0056g0014 a0001c0001t0058g0027 a0001c0001t0059g0026 a0001c0001t0060g0048 a0001c0001t0061g0043 a0001c0001t0063g0025 a0001c0001t0067g0015 a0001c0001t0072g0019 a0001c0001t0073g0040 a0001c0001t0075g0012 a0001c0001t0077g0009 a0001c0001t0078g0039 a0001c0001t0082g0036 a0001c0001t0093g0273 a0001c0001t0095g0038 a0001c0001t0100g0274 a0001c0001t0102g0028 a0001c0001t0103g0007 a0001c0001t0107g0056 a0001c0001t0110g0044 a0001c0001t0112g0246 a0001c0001t0126g0243 a0001c0001t0127g0035 a0001c0001t0130g0239 a0001c0001t0131g0010 a0001c0001t0132g0242 a0001c0001t0135g0275 a0001c0001t0149g0235 a0001c0001t0157g0060 a0001c0001t0158g0059 a0001c0001t0160g0061 a0001c0001t0163g0233 a0001c0001t0165g0054 a0001c0001t0168g0249 a0001c0001t0171g0008 a0002c0004t0014g0238	79	284	0.2782	19	c.-48 others(30): Show c.-4829_-4828insGGATAGGGGTACTGGGGAT	GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding		4479		chr18	TogoVar
GNAO1_chr16_56186489_56362444	56359468	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 NA18964.hp1 NA18994.hp1 HG01978.hp1 NA18964.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0004 a0001c0001t0004 a0001c0002t0004	a0001c0001t0004g0207 a0001c0001t0004g0215 a0001c0002t0004g0267 a0001c0001t0004g0207 a0001c0001t0004g0215 a0001c0002t0004g0267	3	298	0.0101	19	c.33 others(30): Show c.3394_*3395insAAAAAAAAAAAAAAAAAAA	GNAO1	ENSG00000087258.16	transcript	ENST00000262493.12	protein_coding		2025		chr16	TogoVar
GNAQ_chr9_77711097_78036811	77828059	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18988.hp2 NA18906.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0199 a0001c0001t0012g0057 a0001c0001t0003g0199 a0001c0001t0012g0057	2	282	0.0071	19	c.322 others(38): Show c.322-12308_322-12290dupTTTTTTTTTTTTTTTTTTT	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6			chr9	TogoVar
GNAQ_chr9_77711097_78036811	77889410	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0232 a0001c0001t0060g0232	1	282	0.0036	19	c.321 others(38): Show c.321+32732_321+32750dupTTTTTTTTTTTTTTTTTTT	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6			chr9	TogoVar
GNAT2_chr1_109598091_109624616	109615620	A A	AAAAGAAA others(12): Show AAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0067 a0002c0003t0001g0067	1	344	0.0029	19	c.-53 others(36): Show c.-53-2698_-53-2697insCTTTTCTTTTCTTTTCTTT	GNAT2	ENSG00000134183.13	transcript	ENST00000679935.1	protein_coding	1/8			chr1	TogoVar
GNB1L_chr22_19778223_19859874	19847803	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	326	0.0031	19	c.-21 others(36): Show c.-21+6639_-21+6640insTTTTTTTTTTTTTTTTTTT	GNB1L	ENSG00000185838.14	transcript	ENST00000329517.11	protein_coding	2/7			chr22	TogoVar
GNB1L_chr22_19778223_19859874	19847804	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp2 HG01109.hp1 others(4): Show HG00280.hp1 HG00733.hp2 HG01109.hp1 HG01433.hp2 HG01891.hp1 HG04115.hp2 NA20752.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0003 a0007c0010 a0001c0001 a0003c0003 a0007c0010	a0001c0001t0044 a0003c0003t0003 a0007c0010t0002 a0001c0001t0044 a0003c0003t0003 a0007c0010t0002	a0001c0001t0044g0253 a0003c0003t0003g0091 a0003c0003t0003g0093 others(4): Show a0001c0001t0044g0253 a0003c0003t0003g0091 a0003c0003t0003g0093 a0003c0003t0003g0289 a0003c0003t0003g0290 a0003c0003t0003g0291 a0007c0010t0002g0092	7	326	0.0215	19	c.-21 others(36): Show c.-21+6620_-21+6638dupTTTTTTTTTTTTTTTTTTT	GNB1L	ENSG00000185838.14	transcript	ENST00000329517.11	protein_coding	2/7			chr22	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(12): Show ATATATATATATATATATTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01175.hp2 NA20752.hp2 HG01175.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0195 a0001c0001t0200 a0001c0001t0195 a0001c0001t0200	a0001c0001t0195g0337 a0001c0001t0200g0360 a0001c0001t0195g0337 a0001c0001t0200g0360	2	366	0.0055	19	c.56 others(30): Show c.5654_*5655insAAATATATATATATATATA	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13	5654		chr15	TogoVar
GNB5_chr15_52110100_52196392	52136172	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA19066.hp1 NA18969.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0059 a0001c0002t0150 a0001c0001t0059 a0001c0002t0150	a0001c0001t0059g0125 a0001c0002t0150g0264 a0001c0001t0059g0125 a0001c0002t0150g0264	2	366	0.0055	19	c.628 others(34): Show c.628-417_628-416insGTGTGTGTGTGTGTGTGTG	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	7/12			chr15	TogoVar
GNE_chr9_36209441_36263448	36257802	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp2 HG02922.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0014 a0001c0001t0012 a0001c0001t0014	a0001c0001t0012g0230 a0001c0001t0014g0231 a0001c0001t0012g0230 a0001c0001t0014g0231	2	374	0.0054	19	c.-43 others(34): Show c.-43+500_-43+518dupTTTTTTTTTTTTTTTTTTT	GNE	ENSG00000159921.20	transcript	ENST00000642385.2	protein_coding	1/11			chr9	TogoVar
GNE_chr9_36209441_36281978	36257802	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp2 HG02922.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0066 a0001c0001t0014 a0001c0001t0066	a0001c0001t0014g0087 a0001c0001t0066g0180 a0001c0001t0014g0087 a0001c0001t0066g0180	2	356	0.0056	19	c.52- others(34): Show c.52-8424_52-8406dupTTTTTTTTTTTTTTTTTTT	GNE	ENSG00000159921.20	transcript	ENST00000396594.8	protein_coding	1/11			chr9	TogoVar
GNE_chr9_36209441_36281978	36277354	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02040.hp1 HG02735.hp1 others(8): Show HG01884.hp2 HG02040.hp1 HG02735.hp1 HG02965.hp1 HG03490.hp1 HG03704.hp1 NA18948.hp1 NA18952.hp1 NA18971.hp1 NA18993.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0009 a0001c0001t0020 others(5): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0020 a0001c0001t0032 a0001c0001t0033 a0001c0001t0075 a0001c0002t0024 a0001c0002t0049	a0001c0001t0003g0009 a0001c0001t0003g0041 a0001c0001t0003g0046 others(8): Show a0001c0001t0003g0009 a0001c0001t0003g0041 a0001c0001t0003g0046 a0001c0001t0009g0032 a0001c0001t0009g0044 a0001c0001t0020g0043 a0001c0001t0032g0001 a0001c0001t0033g0040 a0001c0001t0075g0033 a0001c0002t0024g0025 a0001c0002t0049g0027	11	356	0.0309	19	c.-42 others(28): Show c.-429_-411dupAAAAAAAAAAAAAAAAAAA	GNE	ENSG00000159921.20	transcript	ENST00000396594.8	protein_coding		377		chr9	TogoVar
GNG11_chr7_93916735_93933610	93930221	C C	CCTTTCTT others(12): Show CCTTTCTTTCTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG02080.hp2 HG02155.hp1 others(3): Show HG01346.hp1 HG02080.hp2 HG02155.hp1 HG02735.hp2 NA18946.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0003 a0001c0001t0002g0016 a0001c0001t0005g0005 a0001c0001t0002g0003 a0001c0001t0002g0016 a0001c0001t0005g0005	6	438	0.0137	19	c.40 others(30): Show c.4005_*4006insCTTTCTTTCTTCTTTCTTT	GNG11	ENSG00000127920.6	transcript	ENST00000248564.6	protein_coding		1612		chr7	TogoVar
GNG12_chr1_67696475_67838467	67763090	G G	GAGAGAGA others(12): Show GAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	274	0.0037	19	c.-27 others(38): Show c.-27+14367_-27+14368insTCTCTCTCTCTCTCTCTCT	GNG12	ENSG00000172380.6	transcript	ENST00000370982.4	protein_coding	2/3			chr1	TogoVar
GNG12_chr1_67696475_67838467	67806526	T T	TGCAGAGG others(12): Show TGCAGAGGGATGGTCCTGGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0165 a0001c0001t0004g0165	1	274	0.0037	19	c.-77 others(38): Show c.-77+26817_-77+26818insTCCAGGACCATCCCTCTGC	GNG12	ENSG00000172380.6	transcript	ENST00000370982.4	protein_coding	1/3			chr1	TogoVar
GNG4_chr1_235542685_235654784	235579862	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03225.hp1 HG03471.hp2 HG01243.hp2 HG03225.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0025 a0001c0002t0088 a0001c0001t0006 a0001c0001t0025 a0001c0002t0088	a0001c0001t0006g0239 a0001c0001t0025g0260 a0001c0002t0088g0309 a0001c0001t0006g0239 a0001c0001t0025g0260 a0001c0002t0088g0309	3	330	0.0091	19	c.99+ others(34): Show c.99+3877_99+3878insATTTTTTTTTTTTTTTTTT	GNG4	ENSG00000168243.11	transcript	ENST00000391854.7	protein_coding	3/3			chr1	TogoVar
GNG4_chr1_235542685_235654784	235600100	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01168.hp2 HG01496.hp2 others(1): Show HG01123.hp2 HG01168.hp2 HG01496.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0004 a0001c0002t0056 others(1): Show a0001c0001t0003 a0001c0002t0004 a0001c0002t0056 a0001c0002t0057	a0001c0001t0003g0277 a0001c0002t0004g0268 a0001c0002t0056g0176 others(1): Show a0001c0001t0003g0277 a0001c0002t0004g0268 a0001c0002t0056g0176 a0001c0002t0057g0175	4	330	0.0121	19	c.-12 others(38): Show c.-122-4608_-122-4590dupAAAAAAAAAAAAAAAAAAA	GNG4	ENSG00000168243.11	transcript	ENST00000391854.7	protein_coding	1/3			chr1	TogoVar
GNG7_chr19_2506219_2707694	2525971	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG01081.hp1 others(33): Show HG00408.hp2 HG00597.hp1 HG01081.hp1 HG01081.hp2 HG01123.hp2 HG01433.hp2 HG01517.hp2 HG01934.hp2 HG01981.hp1 HG02258.hp1 HG02451.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG03017.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03688.hp1 HG04115.hp1 HG04228.hp2 HG06807.hp2 NA18963.hp2 NA18971.hp1 NA18971.hp2 NA18999.hp2 NA19000.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp2 NA19079.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0031 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0047 a0001c0001t0049 a0001c0001t0062 a0001c0001t0063 a0001c0001t0066 a0001c0001t0071 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0086	a0001c0001t0001g0113 a0001c0001t0001g0122 a0001c0001t0002g0063 others(33): Show a0001c0001t0001g0113 a0001c0001t0001g0122 a0001c0001t0002g0063 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0112 a0001c0001t0002g0198 a0001c0001t0004g0058 a0001c0001t0004g0078 a0001c0001t0004g0094 a0001c0001t0005g0032 a0001c0001t0007g0127 a0001c0001t0018g0014 a0001c0001t0018g0158 a0001c0001t0020g0160 a0001c0001t0021g0048 a0001c0001t0022g0031 a0001c0001t0031g0060 a0001c0001t0036g0098 a0001c0001t0038g0065 a0001c0001t0039g0053 a0001c0001t0041g0129 a0001c0001t0042g0134 a0001c0001t0047g0017 a0001c0001t0049g0054 a0001c0001t0062g0152 a0001c0001t0063g0157 a0001c0001t0066g0203 a0001c0001t0071g0190 a0001c0001t0078g0049 a0001c0001t0079g0125 a0001c0001t0080g0013 a0001c0001t0086g0005	36	206	0.1748	19	c.-37 others(36): Show c.-37-5247_-37-5246insAAAAAAAAAAAAAAAAAAA	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	3/4			chr19	TogoVar
GNG7_chr19_2506219_2707694	2607906	G G	GACAGCGA others(12): Show GACAGCGACACAGGGCAGCA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03453.hp2 NA19043.hp2 HG02486.hp2 HG03453.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0032 a0001c0001t0082 a0001c0001t0018 a0001c0001t0032 a0001c0001t0082	a0001c0001t0018g0014 a0001c0001t0032g0001 a0001c0001t0082g0015 a0001c0001t0018g0014 a0001c0001t0032g0001 a0001c0001t0082g0015	3	206	0.0146	19	c.-78 others(38): Show c.-78+38299_-78+38317dupTGCTGCCCTGTGTCGCTGT	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	2/4			chr19	TogoVar
GNG7_chr19_2506219_2707694	2652699	G G	GAAGGGGG others(12): Show GAAGGGGGAGATGGGGGTCA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	206	0.0049	19	c.-13 others(38): Show c.-134-6438_-134-6420dupTGACCCCCATCTCCCCCTT	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	1/4			chr19	TogoVar
GNG7_chr19_2506219_2707694	2657361	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0202 a0001c0001t0003g0202	1	206	0.0049	19	c.-13 others(40): Show c.-134-11082_-134-11081insATATTTTTTTTTTTTTTTT	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	1/4			chr19	TogoVar
GNL3L_chrX_54525219_54572289	54530148	G G	GCCCGCCC others(12): Show GCCCGCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18995.hp1 NA19056.hp1 others(1): Show NA18977.hp1 NA18995.hp1 NA19056.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0002 a0001c0001t0002g0023 a0001c0001t0002g0178 others(1): Show a0001c0001t0002g0002 a0001c0001t0002g0023 a0001c0001t0002g0178 a0001c0001t0009g0002	4	277	0.0144	19	c.-31 others(28): Show c.-319_-318insCCCGCCCCCCCCCCCCCCC	GNL3L	ENSG00000130119.17	transcript	ENST00000360845.3	protein_coding		70		chrX	TogoVar
GNL3_chr3_52681032_52699497	52692369	A A	ACTTTTTT others(12): Show ACTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19065.hp1 NA19030.hp2 NA19065.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0003 a0002c0002t0002 a0003c0003t0003	a0002c0002t0002g0046 a0003c0003t0003g0038 a0002c0002t0002g0046 a0003c0003t0003g0038	2	394	0.0051	19	c.870 others(34): Show c.870-503_870-502insCTTTTTTTTTTTTTTTTTT	GNL3	ENSG00000163938.17	transcript	ENST00000418458.6	protein_coding	9/14			chr3	TogoVar
GNLY_chr2_85689358_85703852	85703610	C C	CACCTCCT others(12): Show CACCTCCTTCCTTCCTTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	398	0.0025	19	c.50 others(30): Show c.5036_*5037insACCTCCTTCCTTCCTTCCT	GNLY	ENSG00000115523.17	transcript	ENST00000263863.9	protein_coding		4759		chr2	TogoVar
GNLY_chr2_85689358_85703852	85703636	C C	CCTTCCTT others(12): Show CCTTCCTTCCTTCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	398	0.0025	19	c.50 others(30): Show c.5062_*5063insCTTCCTTCCTTCCTTCCTT	GNLY	ENSG00000115523.17	transcript	ENST00000263863.9	protein_coding		4785		chr2	TogoVar
GNPTAB_chr12_101740499_101835959	101824433	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01071.hp2 HG02056.hp2 others(7): Show HG00597.hp1 HG01071.hp2 HG02056.hp2 HG03710.hp1 NA18747.hp1 NA18960.hp2 NA18982.hp1 NA18992.hp1 NA19065.hp2 NA19086.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0001c0008 others(2): Show a0001c0001 a0001c0003 a0001c0008 a0001c0013 a0006c0010	a0001c0001t0011 a0001c0003t0003 a0001c0008t0004 others(2): Show a0001c0001t0011 a0001c0003t0003 a0001c0008t0004 a0001c0013t0003 a0006c0010t0003	a0001c0001t0011g0058 a0001c0003t0003g0157 a0001c0003t0003g0158 others(7): Show a0001c0001t0011g0058 a0001c0003t0003g0157 a0001c0003t0003g0158 a0001c0003t0003g0159 a0001c0003t0003g0160 a0001c0003t0003g0161 a0001c0003t0003g0177 a0001c0008t0004g0217 a0001c0013t0003g0156 a0006c0010t0003g0180	10	392	0.0255	19	c.117 others(36): Show c.117+6125_117+6126insTATATATATATATATATAT	GNPTAB	ENSG00000111670.16	transcript	ENST00000299314.12	protein_coding	1/20			chr12	TogoVar
GNPTAB_chr12_101740499_101835959	101833176	A A	ATATATAT others(12): Show ATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0013 a0007c0016t0013	a0007c0016t0013g0236 a0007c0016t0013g0236	1	392	0.0026	19	c.-25 others(30): Show c.-2502_-2501insATATATATATATATATATA	GNPTAB	ENSG00000111670.16	transcript	ENST00000299314.12	protein_coding		2218		chr12	TogoVar
GNPTG_chr16_1346931_1369113	1366889	A A	AGGAAAGG others(12): Show AGGAAAGGCGGCTCCCAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(322): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0011 a0001c0014 a0002c0003 a0003c0006 a0004c0010 a0005c0013 a0006c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0002t0002 a0001c0004t0001 a0001c0008t0001 a0001c0011t0002 a0001c0014t0004 a0002c0003t0001 a0003c0006t0001 a0004c0010t0001 a0005c0013t0001 a0006c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(171): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0026 a0001c0001t0002g0043 a0001c0001t0002g0066 a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0177 a0001c0001t0004g0032 a0001c0001t0005g0094 a0001c0001t0005g0120 a0001c0001t0005g0183 a0001c0001t0006g0018 a0001c0001t0006g0182 a0001c0001t0008g0018 a0001c0001t0010g0019 a0001c0001t0011g0079 a0001c0001t0012g0001 a0001c0001t0013g0021 a0001c0001t0015g0070 a0001c0001t0016g0109 a0001c0002t0002g0008 a0001c0002t0002g0142 a0001c0004t0001g0158 a0001c0004t0001g0159 a0001c0008t0001g0085 a0001c0011t0002g0140 a0001c0014t0004g0032 a0002c0003t0001g0004 a0003c0006t0001g0192 a0004c0010t0001g0148 a0005c0013t0001g0010 a0006c0012t0001g0068	325	378	0.8598	19	c.37 others(30): Show c.3798_*3799insGGAAAGGCGGCTCCCAGGG	GNPTG	ENSG00000090581.11	transcript	ENST00000204679.9	protein_coding		2777		chr16	TogoVar
GNPTG_chr16_1346931_1369113	1366891	G G	GAAAGGCG others(12): Show GAAAGGCGGCTCCCAGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	378	0.0027	19	c.38 others(30): Show c.3800_*3801insAAAGGCGGCTCCCAGGGGA	GNPTG	ENSG00000090581.11	transcript	ENST00000204679.9	protein_coding		2779		chr16	TogoVar
GOLGA1_chr9_124873275_124946083	124887339	A A	AGGGCTGG others(12): Show AGGGCTGGGAGGGGCTCAGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0041 a0001c0001t0016g0041	1	374	0.0027	19	c.190 others(36): Show c.1905+895_1905+913dupCCTGAGCCCCTCCCAGCCC	GOLGA1	ENSG00000136935.14	transcript	ENST00000373555.9	protein_coding	19/22			chr9	TogoVar
GOLGA3_chr12_132763914_132833869	132767615	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01106.hp2 HG02056.hp2 others(5): Show HG00642.hp2 HG01106.hp2 HG02056.hp2 HG02080.hp2 HG02738.hp1 HG03654.hp1 HG03688.hp2 NA18994.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0012 a0001c0001 a0001c0003 a0002c0012	a0001c0001t0004 a0001c0003t0004 a0001c0003t0011 others(4): Show a0001c0001t0004 a0001c0003t0004 a0001c0003t0011 a0001c0003t0039 a0001c0003t0042 a0001c0003t0045 a0002c0012t0011	a0001c0001t0004g0127 a0001c0003t0004g0143 a0001c0003t0004g0164 others(5): Show a0001c0001t0004g0127 a0001c0003t0004g0143 a0001c0003t0004g0164 a0001c0003t0011g0161 a0001c0003t0039g0156 a0001c0003t0042g0146 a0001c0003t0045g0149 a0002c0012t0011g0125	8	308	0.0260	19	c.54 others(30): Show c.5489_*5490insTTTTTTTTTTTTTTTTTTT	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding		1298		chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132788939	G G	GCCCCGCC others(12): Show GCCCCGCCCCAGACACAGGC	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0034 a0002c0002t0034	a0002c0002t0034g0227 a0002c0002t0034g0227	1	308	0.0033	19	c.281 others(34): Show c.2811+69_2811+87dupGCCTGTGTCTGGGGCGGGG	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	13/23			chr12	TogoVar
GOLGA4_chr3_37238271_37371879	37362780	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01192.hp1 HG01261.hp2 others(12): Show HG01074.hp2 HG01192.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG02145.hp2 HG03130.hp2 HG03471.hp1 HG03540.hp1 HG03942.hp2 HG06807.hp2 NA18906.hp1 NA18967.hp1 NA19006.hp1 NA19088.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0007 a0001c0001 a0002c0002 a0004c0007	a0001c0001t0001 a0002c0002t0002 a0004c0007t0001 a0001c0001t0001 a0002c0002t0002 a0004c0007t0001	a0001c0001t0001g0171 a0001c0001t0001g0173 a0002c0002t0002g0203 others(12): Show a0001c0001t0001g0171 a0001c0001t0001g0173 a0002c0002t0002g0203 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0216 a0002c0002t0002g0219 a0002c0002t0002g0223 a0002c0002t0002g0233 a0002c0002t0002g0235 a0002c0002t0002g0253 a0002c0002t0002g0261 a0002c0002t0002g0263 a0004c0007t0001g0086	15	272	0.0552	19	c.33 others(36): Show c.33+1477_*33+1495dupTTTTTTTTTTTTTTTTTTT	GOLGA4	ENSG00000144674.19	transcript	ENST00000361924.7	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr3	TogoVar

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