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
GAS2_chr11_22661611_22818001	22758913	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00597.hp1 others(68): Show HG00280.hp2 HG00408.hp2 HG00597.hp1 HG00673.hp2 HG01099.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp2 HG01243.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01952.hp2 HG01975.hp2 HG02027.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03225.hp1 HG03471.hp2 HG03490.hp1 HG03579.hp1 HG03710.hp1 HG03831.hp2 HG04228.hp2 HG06807.hp1 NA18941.hp2 NA18945.hp2 NA18950.hp1 NA18973.hp1 NA18979.hp2 NA18984.hp2 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19074.hp2 NA19086.hp1 NA19240.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0013 a0002c0003t0006	a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0061 others(67): Show a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0144 a0001c0001t0001g0163 a0001c0001t0001g0194 a0001c0001t0001g0206 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0080 a0001c0001t0002g0137 a0001c0001t0002g0152 a0001c0001t0002g0161 a0001c0001t0002g0176 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0003g0034 a0001c0001t0003g0037 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0048 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0057 a0001c0001t0003g0059 a0001c0001t0003g0063 a0001c0001t0003g0065 a0001c0001t0003g0086 a0001c0001t0003g0160 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0179 a0001c0001t0003g0186 a0001c0001t0003g0196 a0001c0001t0003g0207 a0001c0001t0003g0212 a0001c0001t0003g0243 a0001c0001t0004g0043 a0001c0001t0004g0154 a0001c0001t0005g0010 a0001c0001t0005g0018 a0001c0001t0005g0189 a0001c0001t0005g0247 a0001c0001t0007g0060 a0001c0001t0009g0078 a0001c0001t0009g0079 a0001c0002t0001g0001 a0001c0002t0001g0120 a0001c0002t0001g0129 a0001c0002t0001g0132 a0001c0002t0001g0217 a0001c0002t0001g0233 a0001c0002t0001g0254 a0001c0002t0002g0115 a0001c0002t0002g0150 a0001c0002t0002g0223 a0001c0002t0002g0226 a0001c0002t0003g0093 a0001c0002t0003g0151 a0001c0002t0006g0100 a0001c0002t0006g0101 a0001c0002t0006g0107 a0001c0002t0006g0108 a0001c0002t0013g0015 a0002c0003t0006g0142	71	272	0.2610	11	c.723 others(28): Show c.723+2964_723+2974dupAAAAAAAAAAA	GAS2	ENSG00000148935.12	transcript	ENST00000454584.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
GAS6_chr13_113815549_113869076	113820261	A A	AGCCCTCA others(4): Show AGCCCTCACTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(73): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG01993.hp2 HG02040.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18990.hp2 NA18995.hp1 NA19058.hp1 NA19064.hp1 NA19064.hp2 NA19074.hp2 NA19088.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0013 a0001c0015 a0001c0016 a0001c0017 a0002c0005 a0003c0009 a0004c0010 a0005c0012 a0006c0011 a0007c0014	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(16): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0005 a0001c0004t0001 a0001c0006t0001 a0001c0008t0001 a0001c0013t0001 a0001c0015t0001 a0001c0016t0001 a0001c0017t0001 a0002c0005t0001 a0003c0009t0001 a0004c0010t0001 a0005c0012t0001 a0006c0011t0001 a0007c0014t0003	a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 others(72): Show a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0065 a0001c0001t0001g0102 a0001c0001t0001g0114 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0026 a0001c0002t0001g0032 a0001c0002t0001g0038 a0001c0002t0001g0050 a0001c0002t0001g0071 a0001c0002t0001g0086 a0001c0002t0001g0116 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0131 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0002g0001 a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0023 a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0031 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0042 a0001c0003t0001g0043 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0047 a0001c0003t0001g0062 a0001c0003t0005g0004 a0001c0004t0001g0055 a0001c0004t0001g0080 a0001c0004t0001g0087 a0001c0004t0001g0125 a0001c0006t0001g0109 a0001c0006t0001g0110 a0001c0008t0001g0079 a0001c0013t0001g0069 a0001c0015t0001g0008 a0001c0016t0001g0126 a0001c0017t0001g0024 a0002c0005t0001g0011 a0002c0005t0001g0015 a0002c0005t0001g0016 a0002c0005t0001g0022 a0003c0009t0001g0124 a0004c0010t0001g0133 a0005c0012t0001g0129 a0006c0011t0001g0100 a0007c0014t0003g0002	76	143	0.5315	11	c.60 others(20): Show c.602_*603insACAGTGAGGGC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding		287		chr13	TogoVar
GAS7_chr17_9905606_10203606	9982824	G G	GAAAGAAA others(4): Show GAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02451.hp1 HG02486.hp2 others(4): Show HG01934.hp2 HG02451.hp1 HG02486.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0001t0010 a0001c0001t0016 others(4): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0016 a0001c0001t0036 a0001c0001t0048 a0001c0001t0061 a0001c0007t0012	a0001c0001t0003g0071 a0001c0001t0010g0020 a0001c0001t0016g0119 others(4): Show a0001c0001t0003g0071 a0001c0001t0010g0020 a0001c0001t0016g0119 a0001c0001t0036g0018 a0001c0001t0048g0059 a0001c0001t0061g0035 a0001c0007t0012g0015	7	218	0.0321	11	c.305 others(26): Show c.305-941_305-940insTTTCTTTCTTT	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	2/13			chr17	TogoVar
GAS7_chr17_9905606_10203606	10009318	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02165.hp2 HG02572.hp1 others(4): Show HG02055.hp1 HG02165.hp2 HG02572.hp1 HG03486.hp1 NA18967.hp2 NA18998.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0033 a0001c0001t0043 a0001c0001t0072	a0001c0001t0001g0100 a0001c0001t0001g0199 a0001c0001t0002g0203 others(4): Show a0001c0001t0001g0100 a0001c0001t0001g0199 a0001c0001t0002g0203 a0001c0001t0003g0073 a0001c0001t0033g0023 a0001c0001t0043g0160 a0001c0001t0072g0178	7	218	0.0321	11	c.304 others(30): Show c.304+10448_304+10458dupTTTTTTTTTTT	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	2/13			chr17	TogoVar
GAS7_chr17_9905606_10203606	10046792	G G	GAGAGAGA others(4): Show GAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02622.hp2 HG02258.hp2 HG02622.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0011 a0001c0001 a0002c0011	a0001c0001t0009 a0002c0011t0041 a0001c0001t0009 a0002c0011t0041	a0001c0001t0009g0037 a0002c0011t0041g0026 a0001c0001t0009g0037 a0002c0011t0041g0026	2	218	0.0092	11	c.184 others(30): Show c.184-26896_184-26895insTCTCTCTCTCT	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13			chr17	TogoVar
GAS7_chr17_9905606_10203606	10133123	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01099.hp1 HG01255.hp1 HG00733.hp2 HG01099.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0042 a0001c0001t0057 a0001c0001t0002 a0001c0001t0042 a0001c0001t0057	a0001c0001t0002g0081 a0001c0001t0042g0028 a0001c0001t0057g0174 a0001c0001t0002g0081 a0001c0001t0042g0028 a0001c0001t0057g0174	3	218	0.0138	11	c.183 others(30): Show c.183+65084_183+65085insTATATATATAT	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13			chr17	TogoVar
GAS7_chr17_9905606_10203606	10158336	T T	TTAAAAAC others(4): Show TTAAAAACAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0001 a0001c0002t0039g0001	1	218	0.0046	11	c.183 others(30): Show c.183+39871_183+39872insTTTTGTTTTTA	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13			chr17	TogoVar
GAS7_chr17_9905606_10203606	10159063	A A	ACATATAT others(4): Show ACATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG01070.hp2 others(12): Show HG00323.hp1 HG00597.hp2 HG01070.hp2 HG01071.hp1 HG01256.hp1 HG01261.hp2 HG02523.hp2 HG02622.hp1 HG02683.hp2 HG03041.hp2 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0018 a0001c0001t0033 a0001c0001t0038 a0001c0002t0001 a0001c0002t0062 a0001c0003t0031 a0001c0003t0032 a0003c0006t0014	a0001c0001t0001g0188 a0001c0001t0002g0136 a0001c0001t0002g0137 others(12): Show a0001c0001t0001g0188 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0186 a0001c0001t0003g0149 a0001c0001t0006g0036 a0001c0001t0018g0206 a0001c0001t0018g0207 a0001c0001t0033g0023 a0001c0001t0038g0024 a0001c0002t0001g0061 a0001c0002t0062g0090 a0001c0003t0031g0014 a0001c0003t0032g0025 a0003c0006t0014g0031	15	218	0.0688	11	c.183 others(30): Show c.183+39144_183+39145insATATATATATG	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13			chr17	TogoVar
GAS7_chr17_9905606_10203606	10167044	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01070.hp1 HG01106.hp2 others(12): Show HG00323.hp1 HG01070.hp1 HG01106.hp2 HG01175.hp1 HG01256.hp1 HG01884.hp2 HG02071.hp2 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02717.hp1 HG03209.hp2 NA18906.hp1 NA18961.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0020 a0001c0001t0022 a0001c0001t0026 a0001c0001t0029 a0001c0001t0059 a0001c0001t0065 a0001c0002t0001 a0001c0003t0031	a0001c0001t0001g0188 a0001c0001t0002g0051 a0001c0001t0002g0185 others(12): Show a0001c0001t0001g0188 a0001c0001t0002g0051 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0194 a0001c0001t0004g0043 a0001c0001t0006g0134 a0001c0001t0020g0053 a0001c0001t0022g0148 a0001c0001t0026g0147 a0001c0001t0029g0125 a0001c0001t0059g0151 a0001c0001t0065g0142 a0001c0002t0001g0215 a0001c0003t0031g0014	15	218	0.0688	11	c.183 others(30): Show c.183+31153_183+31163dupAAAAAAAAAAA	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13			chr17	TogoVar
GAS8_chr16_90017680_90049960	90028173	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19030.hp1 HG02486.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0024 a0001c0004t0001 a0001c0003t0024 a0001c0004t0001	a0001c0003t0024g0342 a0001c0004t0001g0212 a0001c0003t0024g0342 a0001c0004t0001g0212	2	390	0.0051	11	c.90+ others(24): Show c.90+470_90+480dupTTTTTTTTTTT	GAS8	ENSG00000141013.17	transcript	ENST00000268699.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
GASK1A_chr3_42974311_43062715	42987998	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01975.hp2 HG02004.hp2 others(14): Show HG00099.hp1 HG01975.hp2 HG02004.hp2 HG02155.hp2 HG02523.hp1 HG04228.hp1 NA18747.hp1 NA18941.hp1 NA18970.hp1 NA18980.hp1 NA18980.hp2 NA19009.hp1 NA19010.hp2 NA19079.hp2 NA19080.hp1 NA19090.hp1 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0002c0002t0003 a0003c0003t0002 a0004c0004t0006	a0001c0001t0001g0013 a0001c0001t0001g0097 a0001c0001t0001g0156 others(13): Show a0001c0001t0001g0013 a0001c0001t0001g0097 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0196 a0001c0001t0001g0236 a0001c0001t0001g0268 a0001c0001t0002g0154 a0001c0001t0002g0191 a0001c0001t0013g0089 a0002c0002t0003g0040 a0002c0002t0003g0153 a0002c0002t0003g0158 a0003c0003t0002g0155 a0004c0004t0006g0275 a0004c0004t0006g0276	17	342	0.0497	11	c.3+8 others(24): Show c.3+8354_3+8364dupAAAAAAAAAAA	GASK1A	ENSG00000144649.10	transcript	ENST00000430121.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
GASK1B_chr4_158119474_158178025	158149923	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp1 others(76): Show HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01192.hp1 HG01256.hp2 HG01515.hp2 HG01884.hp2 HG01891.hp1 HG01943.hp1 HG01952.hp2 HG01993.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02132.hp2 HG02165.hp2 HG02257.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02630.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03492.hp1 HG03704.hp1 HG06807.hp2 NA18522.hp2 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18957.hp2 NA18959.hp2 NA18963.hp1 NA18970.hp2 NA18973.hp2 NA18974.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18995.hp1 NA18997.hp1 NA19057.hp1 NA19062.hp1 NA19064.hp2 NA19078.hp2 NA19079.hp2 NA19081.hp2 NA19085.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0024 a0001c0001t0030 a0001c0002t0004 a0001c0002t0013	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(46): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0159 a0001c0001t0007g0091 a0001c0001t0007g0092 a0001c0001t0010g0068 a0001c0001t0011g0020 a0001c0001t0024g0180 a0001c0001t0030g0213 a0001c0002t0004g0054 a0001c0002t0004g0181 a0001c0002t0013g0182 a0001c0002t0013g0183	79	292	0.2706	11	c.112 others(30): Show c.1125+5677_1125+5687dupAAAAAAAAAAA	GASK1B	ENSG00000164125.16	transcript	ENST00000585682.6	protein_coding	3/4			chr4	TogoVar
GATA2_chr3_128474427_128493530	128484274	G G	GCCCCCCC others(4): Show GCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0082 a0002c0002t0001g0082	1	434	0.0023	11	c.872 others(26): Show c.872-270_872-269insGGGGGGGGGGG	GATA2	ENSG00000179348.13	transcript	ENST00000487848.6	protein_coding	4/6			chr3	TogoVar
GATA2_chr3_128474427_128498201	128475830	C C	CTGGGACT others(4): Show CTGGGACTTGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	430	0.0023	11	c.51 others(22): Show c.5188_*5189insTTCAAGTCCCA	GATA2	ENSG00000179348.13	transcript	ENST00000341105.7	protein_coding		3596		chr3	TogoVar
GATA2_chr3_128474427_128498201	128484274	G G	GCCCCCCC others(4): Show GCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0107 a0002c0003t0001g0107	1	430	0.0023	11	c.872 others(26): Show c.872-270_872-269insGGGGGGGGGGG	GATA2	ENSG00000179348.13	transcript	ENST00000341105.7	protein_coding	3/5			chr3	TogoVar
GATA4_chr8_11699202_11765002	11709573	A A	AGCGGGGG others(4): Show AGCGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02615.hp1 HG03098.hp1 others(1): Show HG00609.hp1 HG02615.hp1 HG03098.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0049 a0001c0001t0004g0076 a0001c0001t0004g0077 others(1): Show a0001c0001t0004g0049 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0006g0063	4	340	0.0118	11	c.616 others(26): Show c.616+647_616+657dupCGGGGGGGGGG	GATA4	ENSG00000136574.19	transcript	ENST00000532059.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
GATA4_chr8_11699202_11765002	11709576	G G	GGGGGGGG others(4): Show GGGGGGGGGGGC	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19030.hp1 HG02965.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0025 a0001c0006t0004 a0001c0001t0025 a0001c0006t0004	a0001c0001t0025g0329 a0001c0006t0004g0051 a0001c0001t0025g0329 a0001c0006t0004g0051	2	340	0.0059	11	c.616 others(26): Show c.616+650_616+660dupGGGGGGGGGCG	GATA4	ENSG00000136574.19	transcript	ENST00000532059.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
GATA5_chr20_62458497_62480995	62467383	T T	TGGTGTTT others(4): Show TGGTGTTTGGGA	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0105	1	382	0.0026	11	c.700 others(26): Show c.700-843_700-833dupTCCCAAACACC	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding	3/6			chr20	TogoVar
GATA5_chr20_62458497_62480995	62471432	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01975.hp2 HG02165.hp1 others(3): Show HG01167.hp1 HG01975.hp2 HG02165.hp1 HG02280.hp1 HG03942.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0007 a0001c0014 a0001c0004 a0001c0007 a0001c0014	a0001c0004t0003 a0001c0004t0007 a0001c0007t0001 others(2): Show a0001c0004t0003 a0001c0004t0007 a0001c0007t0001 a0001c0007t0008 a0001c0014t0015	a0001c0004t0003g0282 a0001c0004t0003g0283 a0001c0004t0007g0275 others(3): Show a0001c0004t0003g0282 a0001c0004t0003g0283 a0001c0004t0007g0275 a0001c0007t0001g0291 a0001c0007t0008g0152 a0001c0014t0015g0170	6	382	0.0157	11	c.699 others(28): Show c.699+1960_699+1970dupAAAAAAAAAAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding	3/6			chr20	TogoVar
GATA5_chr20_62458497_62480995	62476812	G G	GGGGGGGG others(4): Show GGGGGGGGAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0009 a0009	a0009c0025 a0009c0025	a0009c0025t0001 a0009c0025t0001	a0009c0025t0001g0288 a0009c0025t0001g0288	1	382	0.0026	11	c.-90 others(20): Show c.-905_-904insTTTTCCCCCCC	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		818		chr20	TogoVar
GATA5_chr20_62458497_62480995	62476885	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0082 a0001c0003t0001g0082	1	382	0.0026	11	c.-97 others(20): Show c.-978_-977insGAAAGAAAGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		891		chr20	TogoVar
GATA5_chr20_62458497_62480995	62476946	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp1 NA19087.hp1 NA18993.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0014 a0001c0002t0002g0127 a0001c0001t0001g0014 a0001c0002t0002g0127	2	382	0.0052	11	c.-10 others(22): Show c.-1039_-1038insGAAAGAAAGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		952		chr20	TogoVar
GATA5_chr20_62458497_62480995	62476954	C C	CTTTTCTT others(4): Show CTTTTCTTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0127 a0001c0002t0002g0127	1	382	0.0026	11	c.-10 others(22): Show c.-1047_-1046insAGAAAAGAAAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		960		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477098	C C	CTTCCTTC others(4): Show CTTCCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0006 a0001c0003t0003g0006	1	382	0.0026	11	c.-11 others(22): Show c.-1191_-1190insAGAAGAAGGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1104		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477138	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0005 a0002c0006t0005	a0002c0006t0005g0017 a0002c0006t0005g0017	1	382	0.0026	11	c.-12 others(22): Show c.-1231_-1230insGAAAGAAAGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1144		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCCTTCCT others(4): Show TCCTTCCTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0238 a0002c0006t0001g0238	1	382	0.0026	11	c.-13 others(22): Show c.-1398_-1397insGAGGAGGAAGG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA6_chr18_22164589_22207528	22177944	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02717.hp1 HG02809.hp1 others(2): Show HG02055.hp1 HG02717.hp1 HG02809.hp1 HG03225.hp1 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0061 a0002c0002t0002g0001 a0002c0002t0002g0061	5	286	0.0175	11	c.130 others(28): Show c.1302+830_1302+831insTTTTTTTTTTT	GATA6	ENSG00000141448.11	transcript	ENST00000269216.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
GATAD2A_chr19_19400675_19513932	19430976	G G	GTGTGTGT others(4): Show GTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0266 a0001c0002t0025g0266	1	298	0.0034	11	c.-7+ others(28): Show c.-7+24957_-7+24958insTGTGTGTGTGT	GATAD2A	ENSG00000167491.18	transcript	ENST00000683918.1	protein_coding	1/11			chr19	TogoVar
GATAD2A_chr19_19400675_19513932	19469431	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00423.hp2 others(42): Show HG00140.hp2 HG00323.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG01081.hp1 HG01099.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01516.hp2 HG01517.hp1 HG01975.hp2 HG01993.hp2 HG02040.hp2 HG02071.hp1 HG02523.hp2 HG03490.hp1 HG03492.hp2 HG03669.hp1 HG03831.hp1 HG03927.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18946.hp1 NA18953.hp2 NA18961.hp2 NA18962.hp1 NA18966.hp2 NA18970.hp2 NA18972.hp1 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18988.hp1 NA18992.hp1 NA18993.hp2 NA18998.hp1 NA19000.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 others(7): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0023 a0001c0001t0027 a0001c0001t0031 a0001c0001t0034 a0001c0001t0035 a0001c0009t0002	a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 others(42): Show a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0208 a0001c0001t0002g0211 a0001c0001t0002g0220 a0001c0001t0008g0212 a0001c0001t0008g0214 a0001c0001t0008g0215 a0001c0001t0008g0217 a0001c0001t0008g0218 a0001c0001t0008g0219 a0001c0001t0009g0187 a0001c0001t0009g0210 a0001c0001t0010g0169 a0001c0001t0010g0172 a0001c0001t0010g0179 a0001c0001t0010g0182 a0001c0001t0010g0186 a0001c0001t0010g0202 a0001c0001t0023g0213 a0001c0001t0023g0216 a0001c0001t0027g0171 a0001c0001t0027g0177 a0001c0001t0031g0198 a0001c0001t0034g0221 a0001c0001t0035g0205 a0001c0009t0002g0201	45	298	0.1510	11	c.269 others(28): Show c.269+3826_269+3827insAAAAAAAAAAA	GATAD2A	ENSG00000167491.18	transcript	ENST00000683918.1	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
GATAD2A_chr19_19400675_19513932	19510409	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG01109.hp1 others(29): Show HG00609.hp1 HG00609.hp2 HG01109.hp1 HG01243.hp2 HG01257.hp1 HG01346.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02071.hp2 HG02129.hp1 HG02132.hp2 HG02293.hp1 HG02523.hp1 HG02559.hp1 HG02735.hp1 HG02895.hp1 HG02897.hp2 HG03490.hp1 HG03540.hp1 NA18747.hp2 NA18942.hp1 NA18950.hp2 NA18985.hp1 NA18993.hp2 NA18994.hp1 NA19000.hp2 NA19007.hp1 NA19010.hp2 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0003 a0001c0001 a0001c0006 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0021 a0001c0001t0027 a0001c0001t0030 a0001c0001t0050 a0001c0006t0003 a0002c0003t0016	a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0193 others(29): Show a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0193 a0001c0001t0002g0197 a0001c0001t0002g0204 a0001c0001t0003g0031 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0065 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0070 a0001c0001t0003g0072 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0164 a0001c0001t0008g0218 a0001c0001t0021g0064 a0001c0001t0027g0171 a0001c0001t0030g0066 a0001c0001t0050g0078 a0001c0006t0003g0069 a0002c0003t0016g0174	32	298	0.1074	11	c.49 others(22): Show c.4935_*4936insTTTTTTTTTTT	GATAD2A	ENSG00000167491.18	transcript	ENST00000683918.1	protein_coding		1478		chr19	TogoVar
GATAD2A_chr19_19400675_19513932	19513366	C C	CTTTTCCT others(4): Show CTTTTCCTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0028 a0001c0001t0006g0028	1	298	0.0034	11	c.78 others(22): Show c.7892_*7893insTTTTCCTTTTT	GATAD2A	ENSG00000167491.18	transcript	ENST00000683918.1	protein_coding		4435		chr19	TogoVar
GATAD2B_chr1_153799725_153927972	153839108	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01361.hp2 HG02293.hp1 others(6): Show HG01256.hp1 HG01361.hp2 HG02293.hp1 HG04199.hp2 NA18956.hp2 NA18977.hp2 NA18990.hp1 NA19000.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0023 others(4): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0023 a0001c0001t0027 a0001c0001t0040 a0001c0001t0044 a0001c0001t0055	a0001c0001t0004g0062 a0001c0001t0004g0080 a0001c0001t0009g0011 others(6): Show a0001c0001t0004g0062 a0001c0001t0004g0080 a0001c0001t0009g0011 a0001c0001t0009g0058 a0001c0001t0023g0026 a0001c0001t0027g0006 a0001c0001t0040g0024 a0001c0001t0044g0081 a0001c0001t0055g0065	9	349	0.0258	11	c.-1- others(28): Show c.-1-10771_-1-10761dupTTTTTTTTTTT	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153876227	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18990.hp2 NA18999.hp2 others(5): Show HG02615.hp1 NA18990.hp2 NA18999.hp2 NA19063.hp1 NA19063.hp2 NA19074.hp1 NA19077.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0018 a0001c0001t0027 a0001c0001t0054 a0002c0004t0003	a0001c0001t0002g0188 a0001c0001t0002g0215 a0001c0001t0003g0096 others(5): Show a0001c0001t0002g0188 a0001c0001t0002g0215 a0001c0001t0003g0096 a0001c0001t0012g0230 a0001c0001t0018g0094 a0001c0001t0027g0006 a0001c0001t0054g0095 a0002c0004t0003g0101	8	349	0.0229	11	c.-2+ others(28): Show c.-2+46495_-2+46505dupTTTTTTTTTTT	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GATB_chr4_151665504_151766007	151686652	G G	GCCCCGCC others(4): Show GCCCCGCCCCCC	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18939.hp1 NA19057.hp1 HG02572.hp1 NA18939.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0129 a0001c0001t0001g0172 a0001c0003t0001g0162 a0001c0001t0001g0129 a0001c0001t0001g0172 a0001c0003t0001g0162	3	320	0.0094	11	c.133 others(30): Show c.1331+1977_1331+1978insGGGGGGCGGGG	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	10/12			chr4	TogoVar
GATC_chr12_120441444_120468749	120451872	A A	ATTCTTTT others(4): Show ATTCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0133 a0001c0001t0020g0133	1	408	0.0025	11	c.254 others(28): Show c.254+5046_254+5056dupCTTTTTTTTTT	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
GATC_chr12_120441444_120468749	120451876	T T	TTTTTTTT others(4): Show TTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG01169.hp2 NA18954.hp2 HG01169.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0002 a0001c0001t0009 a0001c0002t0002	a0001c0001t0009g0120 a0001c0002t0002g0119 a0001c0001t0009g0120 a0001c0002t0002g0119	2	408	0.0049	11	c.254 others(28): Show c.254+5057_254+5058insCTTTTTTTTTT	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
GATC_chr12_120441444_120468749	120451877	T T	TTTTTTTT others(4): Show TTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0080 a0001c0002t0006g0080	1	408	0.0025	11	c.254 others(28): Show c.254+5058_254+5059insCTTTTTTTTTT	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
GBE1_chr3_81484703_81766645	81660878	G G	GAGAAAAA others(4): Show GAGAAAAAGGTT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0174 a0001c0001t0003g0174	1	304	0.0033	11	c.429 others(28): Show c.429+9949_429+9959dupAACCTTTTTCT	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	3/15			chr3	TogoVar
GBE1_chr3_81484703_81766645	81665984	T T	TTATAATA others(4): Show TTATAATATTCA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0174 a0001c0001t0003g0174	1	304	0.0033	11	c.429 others(28): Show c.429+4853_429+4854insTGAATATTATA	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	3/15			chr3	TogoVar
GBF1_chr10_102240532_102387896	102260473	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG06807.hp2 HG02818.hp2 HG06807.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0007c0010t0001 a0001c0001t0001 a0007c0010t0001	a0001c0001t0001g0112 a0007c0010t0001g0113 a0001c0001t0001g0112 a0007c0010t0001g0113	2	330	0.0061	11	c.163 others(26): Show c.163+359_163+360insTTTTTTTTTTT	GBF1	ENSG00000107862.7	transcript	ENST00000369983.5	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
GBGT1_chr9_133147948_133168914	133160311	A A	AATAATAA others(4): Show AATAATAATAAT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	446	0.0022	11	c.137 others(28): Show c.137+1155_137+1156insATTATTATTAT	GBGT1	ENSG00000148288.13	transcript	ENST00000372040.9	protein_coding	3/6			chr9	TogoVar
GBP3_chr1_89001680_89027866	89021544	A A	ACACACAC others(4): Show ACACACACACCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02602.hp2 HG02258.hp2 HG02602.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0119 a0004c0004t0001g0153 a0004c0004t0001g0119 a0004c0004t0001g0153	2	436	0.0046	11	c.-22 others(26): Show c.-22-802_-22-801insGGGTGTGTGTG	GBP3	ENSG00000117226.12	transcript	ENST00000370481.9	protein_coding	1/10			chr1	TogoVar
GBP3_chr1_89001680_89027866	89021832	A A	AGAGAGAG others(4): Show AGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG03516.hp1 HG00408.hp2 HG03516.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0008 a0002c0002 a0003c0008	a0002c0002t0009 a0003c0008t0002 a0002c0002t0009 a0003c0008t0002	a0002c0002t0009g0166 a0003c0008t0002g0072 a0002c0002t0009g0166 a0003c0008t0002g0072	2	436	0.0046	11	c.-23 others(26): Show c.-23+851_-23+852insCTCTCTCTCTC	GBP3	ENSG00000117226.12	transcript	ENST00000370481.9	protein_coding	1/10			chr1	TogoVar
GBX2_chr2_236160236_236173386	236160248	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	342	0.0029	11	c.56 others(22): Show c.5665_*5666insCACACACACAC	GBX2	ENSG00000168505.7	transcript	ENST00000306318.5	protein_coding		4987		chr2	TogoVar
GCC2_chr2_108444206_108514415	108459745	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03195.hp1 HG02630.hp2 HG03195.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0018 a0001c0006t0032 a0001c0006t0018 a0001c0006t0032	a0001c0006t0018g0146 a0001c0006t0032g0147 a0001c0006t0018g0146 a0001c0006t0032g0147	2	276	0.0073	11	c.216 others(28): Show c.216+7302_216+7312dupTTTTTTTTTTT	GCC2	ENSG00000135968.22	transcript	ENST00000309863.11	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
GCC2_chr2_108444206_108514415	108476054	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA19088.hp2 NA18954.hp2 NA19088.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0014 a0001c0008t0014	a0001c0008t0014g0160 a0001c0008t0014g0161 a0001c0008t0014g0160 a0001c0008t0014g0161	2	276	0.0073	11	c.306 others(28): Show c.3060+220_3060+230dupTTTTTTTTTTT	GCC2	ENSG00000135968.22	transcript	ENST00000309863.11	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
GCC2_chr2_108444206_108514415	108509733	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0050 a0009c0017t0050	a0009c0017t0050g0163 a0009c0017t0050g0163	1	276	0.0036	11	c.21 others(22): Show c.2103_*2104insTTTTTTTTTTT	GCC2	ENSG00000135968.22	transcript	ENST00000309863.11	protein_coding		319		chr2	TogoVar
GCH1_chr14_54837017_54907826	54855505	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01074.hp1 HG01081.hp2 others(35): Show HG00735.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01258.hp2 HG01361.hp2 HG01981.hp2 HG01993.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02258.hp2 HG02572.hp2 HG02976.hp2 HG03139.hp2 HG03453.hp2 HG03710.hp2 HG06807.hp2 NA18942.hp1 NA18951.hp1 NA18959.hp1 NA18960.hp2 NA18973.hp1 NA18977.hp1 NA19060.hp1 NA19067.hp2 NA19077.hp1 NA19079.hp2 NA19082.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0001 a0001c0001t0002 a0001c0001t0016	a0001c0001t0001g0070 a0001c0001t0002g0002 a0001c0001t0002g0008 others(34): Show a0001c0001t0001g0070 a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0033 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0048 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0130 a0001c0001t0002g0157 a0001c0001t0002g0220 a0001c0001t0002g0245 a0001c0001t0002g0253 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0016g0063	38	346	0.1098	11	c.509 others(28): Show c.509+4165_509+4175dupTTTTTTTTTTT	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	3/5			chr14	TogoVar
GCH1_chr14_54837017_54907826	54867589	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0277 a0001c0001t0007g0277	1	346	0.0029	11	c.344 others(28): Show c.344-2164_344-2154dupTTTTTTTTTTT	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	1/5			chr14	TogoVar
GCH1_chr14_54837017_54907826	54880469	T T	TATATATA others(4): Show TATATATACTCC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03195.hp2 HG02896.hp1 HG02897.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0250 a0001c0001t0010g0251 a0001c0001t0010g0271 a0001c0001t0010g0250 a0001c0001t0010g0251 a0001c0001t0010g0271	3	346	0.0087	11	c.344 others(30): Show c.344-15034_344-15033insGGAGTATATAT	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	1/5			chr14	TogoVar

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