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
GAS8_chr16_90017680_90049960	90028173	ATTTTTTT others(2): Show ATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp2 NA18946.hp1 others(4): Show HG03688.hp1 HG03688.hp2 NA18946.hp1 NA18947.hp1 NA18984.hp1 NA19074.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0008 a0001c0002t0007 a0001c0004t0001 a0001c0001t0008 a0001c0002t0007 a0001c0004t0001	a0001c0001t0008g0021 a0001c0001t0008g0286 a0001c0001t0008g0293 others(3): Show a0001c0001t0008g0021 a0001c0001t0008g0286 a0001c0001t0008g0293 a0001c0001t0008g0303 a0001c0002t0007g0183 a0001c0004t0001g0182	7	390	0.0180	-9	c.90+ others(22): Show c.90+472_90+480delTTTTTTTTT	GAS8	ENSG00000141013.17	transcript	ENST00000268699.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
GAS8_chr16_90017680_90049960	90045282	CAAAAAAA others(2): Show CAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02965.hp2 HG03098.hp1 others(4): Show HG02109.hp2 HG02965.hp2 HG03098.hp1 HG03130.hp2 HG03453.hp1 HG03516.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0017 a0001c0002t0013 a0001c0002t0017 others(2): Show a0001c0001t0017 a0001c0002t0013 a0001c0002t0017 a0001c0002t0023 a0001c0003t0027	a0001c0001t0017g0349 a0001c0002t0013g0339 a0001c0002t0013g0340 others(4): Show a0001c0001t0017g0349 a0001c0002t0013g0339 a0001c0002t0013g0340 a0001c0002t0013g0341 a0001c0002t0017g0138 a0001c0002t0023g0321 a0001c0003t0027g0343	7	390	0.0180	-9	c.19 others(20): Show c.1938_*1946delAAAAAAAAA	GAS8	ENSG00000141013.17	transcript	ENST00000268699.9	protein_coding		323		chr16	TogoVar
GATA6_chr18_22164589_22207528	22177944	GTTTTTTT others(2): Show GTTTTTTTGT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA18955.hp1 NA18986.hp2 others(5): Show HG02257.hp1 NA18955.hp1 NA18986.hp2 NA18989.hp1 NA19057.hp1 NA19062.hp2 NA19083.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0054 others(4): Show a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0211	8	286	0.0280	-9	c.130 others(26): Show c.1302+831_1302+839delGTTTTTTTT	GATA6	ENSG00000141448.11	transcript	ENST00000269216.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
GATA6_chr18_22164589_22207528	22197794	CTCCTTCT others(2): Show CTCCTTCTCA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG01975.hp2 others(13): Show HG00140.hp2 HG00408.hp1 HG01975.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02071.hp2 HG02148.hp1 HG02300.hp2 HG02683.hp1 HG03710.hp1 NA18747.hp1 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18965.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0005c0004t0002	a0001c0001t0001g0054 a0001c0001t0001g0155 a0001c0001t0001g0208 others(13): Show a0001c0001t0001g0054 a0001c0001t0001g0155 a0001c0001t0001g0208 a0001c0001t0001g0244 a0001c0001t0002g0015 a0001c0001t0002g0050 a0001c0001t0002g0103 a0001c0001t0002g0162 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0202 a0001c0001t0002g0213 a0001c0001t0002g0216 a0001c0001t0003g0177 a0001c0001t0011g0122 a0005c0004t0002g0015	16	286	0.0559	-9	c.162 others(28): Show c.1621-2860_1621-2852delCCTTCTCAT	GATA6	ENSG00000141448.11	transcript	ENST00000269216.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
GATAD1_chr7_92442482_92465075	92457161	GAAAAAAA others(2): Show GAAAAAAAAA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 HG02717.hp1 HG02895.hp2 others(4): Show HG01891.hp2 HG02717.hp1 HG02895.hp2 HG02965.hp2 HG03579.hp1 NA18522.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0002c0002t0008 a0001c0001t0008 a0002c0002t0008	a0001c0001t0008g0011 a0002c0002t0008g0018 a0002c0002t0008g0060 others(1): Show a0001c0001t0008g0011 a0002c0002t0008g0018 a0002c0002t0008g0060 a0002c0002t0008g0061	7	330	0.0212	-9	c.61 others(18): Show c.611_*619delAAAAAAAAA	GATAD1	ENSG00000157259.8	transcript	ENST00000287957.5	protein_coding	5/5	611	INFO_REALIGN_3_PRIME	chr7	TogoVar
GATAD2A_chr19_19400675_19513932	19411668	CCTCAGCT others(2): Show CCTCAGCTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG00741.hp2 others(20): Show HG00099.hp2 HG00642.hp1 HG00741.hp2 HG01099.hp1 HG01257.hp2 HG01258.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01928.hp2 HG01978.hp1 HG01981.hp2 HG02683.hp1 HG02698.hp1 HG02735.hp2 HG02738.hp2 HG03239.hp1 HG03490.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0024 others(2): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0024 a0001c0001t0041 a0001c0001t0042	a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0128 others(20): Show a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0152 a0001c0001t0007g0139 a0001c0001t0024g0144 a0001c0001t0024g0145 a0001c0001t0041g0151 a0001c0001t0042g0153	23	298	0.0772	-9	c.-7+ others(24): Show c.-7+5653_-7+5661delAGCTTTCTC	GATAD2A	ENSG00000167491.18	transcript	ENST00000683918.1	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
GATAD2A_chr19_19400675_19513932	19440925	CCTTCCTT others(2): Show CCTTCCTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02280.hp2 others(2): Show HG01884.hp2 HG02109.hp2 HG02280.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0032 a0001c0001t0014 a0001c0001t0032	a0001c0001t0014g0080 a0001c0001t0014g0081 a0001c0001t0014g0082 others(2): Show a0001c0001t0014g0080 a0001c0001t0014g0081 a0001c0001t0014g0082 a0001c0001t0014g0083 a0001c0001t0032g0079	5	298	0.0168	-9	c.-6- others(26): Show c.-6-24407_-6-24399delTTCTTCCTT	GATAD2A	ENSG00000167491.18	transcript	ENST00000683918.1	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
GATAD2A_chr19_19400675_19513932	19440986	TTTCCTTC others(2): Show TTTCCTTCCC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03710.hp1 HG04204.hp1 others(1): Show HG03017.hp2 HG03710.hp1 HG04204.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0012 a0001c0002t0001 a0001c0002t0012	a0001c0002t0001g0263 a0001c0002t0012g0114 a0001c0002t0012g0115 others(1): Show a0001c0002t0001g0263 a0001c0002t0012g0114 a0001c0002t0012g0115 a0001c0002t0012g0117	4	298	0.0134	-9	c.-6- others(26): Show c.-6-24310_-6-24302delCCTTCCTTC	GATAD2A	ENSG00000167491.18	transcript	ENST00000683918.1	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
GBE1_chr3_81484703_81766645	81501686	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00597.hp1 others(24): Show HG00280.hp1 HG00423.hp2 HG00597.hp1 HG00735.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01515.hp1 HG02080.hp1 HG02083.hp1 HG02165.hp1 HG02683.hp1 HG02698.hp2 HG02970.hp1 HG03239.hp1 HG03654.hp2 NA18950.hp1 NA18967.hp1 NA18983.hp2 NA18988.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19003.hp2 NA19007.hp2 NA19070.hp1 NA19088.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0016 a0001c0001 a0002c0002 a0009c0016	a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 a0002c0002t0001 a0002c0002t0005 a0002c0002t0009 a0009c0016t0001	a0001c0001t0002g0192 a0001c0001t0005g0281 a0001c0001t0005g0282 others(24): Show a0001c0001t0002g0192 a0001c0001t0005g0281 a0001c0001t0005g0282 a0001c0001t0015g0176 a0002c0002t0001g0059 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0075 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0101 a0002c0002t0001g0103 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0005g0265 a0002c0002t0009g0002 a0002c0002t0009g0003 a0009c0016t0001g0104	27	304	0.0888	-9	c.193 others(28): Show c.1935-2468_1935-2460delAAAAAAAAA	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	14/15			chr3	TogoVar
GBGT1_chr9_133147948_133168914	133160281	TATAATAA others(2): Show TATAATAATA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp2 HG00639.hp1 others(34): Show HG00558.hp1 HG00609.hp2 HG00639.hp1 HG01099.hp2 HG01109.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01361.hp1 HG01433.hp2 HG02109.hp2 HG02155.hp2 HG02451.hp1 HG02630.hp2 HG02818.hp2 HG02965.hp2 HG03041.hp1 HG03209.hp2 HG03453.hp2 HG03491.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03831.hp1 NA18956.hp1 NA18956.hp2 NA18968.hp1 NA18974.hp1 NA18975.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19070.hp1 NA19078.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0009 a0013 a0029	a0001c0001 a0002c0002 a0002c0004 others(6): Show a0001c0001 a0002c0002 a0002c0004 a0002c0010 a0003c0007 a0005c0009 a0009c0015 a0013c0037 a0029c0038	a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 others(8): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 a0002c0004t0012 a0002c0010t0002 a0003c0007t0002 a0005c0009t0003 a0005c0009t0008 a0009c0015t0001 a0013c0037t0003 a0029c0038t0002	a0001c0001t0001g0032 a0002c0002t0002g0021 a0002c0002t0002g0045 others(20): Show a0001c0001t0001g0032 a0002c0002t0002g0021 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0060 a0002c0002t0002g0163 a0002c0002t0002g0168 a0002c0002t0002g0170 a0002c0002t0002g0178 a0002c0002t0003g0031 a0002c0002t0003g0162 a0002c0002t0003g0171 a0002c0004t0012g0167 a0002c0010t0002g0169 a0003c0007t0002g0020 a0005c0009t0003g0160 a0005c0009t0003g0164 a0005c0009t0003g0165 a0005c0009t0008g0058 a0009c0015t0001g0052 a0013c0037t0003g0166 a0029c0038t0002g0175	37	446	0.0830	-9	c.137 others(26): Show c.137+1177_137+1185delTATTATTAT	GBGT1	ENSG00000148288.13	transcript	ENST00000372040.9	protein_coding	3/6			chr9	TogoVar
GBP4_chr1_89176144_89203942	89197463	ATAAAATT others(2): Show ATAAAATTTC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02615.hp2 HG02622.hp1 others(11): Show HG01109.hp2 HG02615.hp2 HG02622.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03453.hp2 HG03540.hp1 HG03540.hp2 NA19030.hp2 NA20129.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0011 a0003c0003t0018 a0003c0003t0005 a0003c0003t0011 a0003c0003t0018	a0003c0003t0005g0011 a0003c0003t0005g0016 a0003c0003t0011g0014 others(1): Show a0003c0003t0005g0011 a0003c0003t0005g0016 a0003c0003t0011g0014 a0003c0003t0018g0030	14	402	0.0348	-9	c.41- others(22): Show c.41-168_41-160delGAAATTTTA	GBP4	ENSG00000162654.9	transcript	ENST00000355754.7	protein_coding	1/10			chr1	TogoVar
GCC2_chr2_108444206_108514415	108462542	GTCACAAA others(2): Show GTCACAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA18950.hp1 NA18994.hp2 HG00323.hp2 NA18950.hp1 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0008 a0001c0002t0001 a0001c0002t0008	a0001c0002t0001g0049 a0001c0002t0001g0066 a0001c0002t0008g0021 a0001c0002t0001g0049 a0001c0002t0001g0066 a0001c0002t0008g0021	3	276	0.0109	-9	c.217 others(26): Show c.217-6437_217-6429delTCACAAAGA	GCC2	ENSG00000135968.22	transcript	ENST00000309863.11	protein_coding	4/22			chr2	TogoVar
GCFC2_chr2_75657705_75715915	75708501	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18947.hp1 NA18948.hp1 others(6): Show HG03041.hp1 NA18947.hp1 NA18948.hp1 NA18979.hp2 NA18986.hp2 NA18992.hp1 NA18995.hp1 NA19064.hp1 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0023 a0002c0002t0003 a0002c0002t0023	a0002c0002t0003g0005 a0002c0002t0003g0031 a0002c0002t0023g0121 a0002c0002t0003g0005 a0002c0002t0003g0031 a0002c0002t0023g0121	9	404	0.0223	-9	c.266 others(26): Show c.266-1859_266-1851delAAAAAAAAA	GCFC2	ENSG00000005436.14	transcript	ENST00000321027.8	protein_coding	1/16			chr2	TogoVar
GCH1_chr14_54837017_54907826	54838242	AAAAAAAA others(2): Show AAAAAAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show HG00323.hp2 HG02738.hp1 HG03490.hp2 HG03492.hp1 HG03704.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0276 a0001c0001t0007g0277 a0001c0001t0007g0278 others(3): Show a0001c0001t0007g0276 a0001c0001t0007g0277 a0001c0001t0007g0278 a0001c0001t0007g0279 a0001c0001t0007g0280 a0001c0001t0007g0281	6	346	0.0173	-9	c.57 others(20): Show c.5766_*5774delCTTTTTTTT	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding		3774		chr14	TogoVar
GCH1_chr14_54837017_54907826	54880630	CCATATAT others(2): Show CCATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19240.hp2 NA21309.hp2 NA19030.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0282 a0001c0001t0011g0283 a0001c0001t0011g0284 a0001c0001t0011g0282 a0001c0001t0011g0283 a0001c0001t0011g0284	3	346	0.0087	-9	c.344 others(28): Show c.344-15203_344-15195delATATATATG	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	1/5			chr14	TogoVar
GCH1_chr14_54837017_54907826	54883371	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00639.hp2 others(42): Show HG00408.hp2 HG00423.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01433.hp2 HG01516.hp2 HG02015.hp2 HG02083.hp1 HG02129.hp1 HG02155.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp1 HG02895.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 NA18522.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18961.hp2 NA18980.hp2 NA19009.hp1 NA19043.hp2 NA19062.hp2 NA19089.hp1 NA19240.hp1 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0022	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0185 others(38): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0002g0186 a0001c0001t0004g0020 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0046 a0001c0001t0008g0215 a0001c0001t0008g0232 a0001c0001t0008g0288 a0001c0001t0008g0289 a0001c0001t0008g0290 a0001c0001t0008g0302 a0001c0001t0013g0006 a0001c0001t0013g0007 a0001c0001t0014g0189 a0001c0001t0014g0196 a0001c0001t0022g0030	45	346	0.1301	-9	c.344 others(28): Show c.344-17944_344-17936delTTTTTTTTT	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	1/5			chr14	TogoVar
GCK_chr7_44139275_44194439	44174854	CTCTTCTT others(2): Show CTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00621.hp1 others(20): Show HG00423.hp2 HG00558.hp1 HG00621.hp1 HG01243.hp2 HG01257.hp1 HG02074.hp2 HG02080.hp2 HG02145.hp1 HG02293.hp1 HG02886.hp2 HG02922.hp1 HG02976.hp1 HG03139.hp1 HG03579.hp1 HG03831.hp2 HG04204.hp1 NA18944.hp2 NA18970.hp1 NA18984.hp1 NA19080.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017	a0001c0001t0001g0269 a0001c0001t0001g0290 a0001c0001t0001g0304 others(20): Show a0001c0001t0001g0269 a0001c0001t0001g0290 a0001c0001t0001g0304 a0001c0001t0002g0048 a0001c0001t0002g0069 a0001c0001t0002g0086 a0001c0001t0002g0128 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0248 a0001c0001t0002g0260 a0001c0001t0002g0278 a0001c0001t0002g0305 a0001c0001t0003g0111 a0001c0001t0003g0180 a0001c0001t0012g0358 a0001c0001t0013g0359 a0001c0001t0013g0360 a0001c0001t0017g0073	23	392	0.0587	-9	c.45+ others(26): Show c.45+14046_45+14054delAGAAGAAGA	GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding	1/9			chr7	TogoVar
GCM1_chr6_53121961_53153841	53142000	GAAAAAAA others(2): Show GAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01928.hp1 HG02055.hp1 others(18): Show HG00544.hp2 HG01928.hp1 HG02055.hp1 HG02074.hp2 HG02109.hp1 HG02257.hp1 HG02486.hp2 HG02615.hp1 HG02630.hp1 HG02895.hp2 HG02976.hp2 HG03041.hp2 NA18956.hp1 NA18977.hp2 NA18991.hp2 NA19000.hp1 NA19004.hp2 NA19066.hp1 NA19078.hp1 NA19080.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0002t0011	a0001c0001t0001g0074 a0001c0001t0001g0315 a0001c0001t0001g0321 others(14): Show a0001c0001t0001g0074 a0001c0001t0001g0315 a0001c0001t0001g0321 a0001c0001t0001g0324 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0082 a0001c0001t0002g0325 a0001c0001t0003g0323 a0001c0001t0003g0326 a0001c0001t0004g0003 a0001c0001t0011g0057 a0001c0001t0012g0316 a0001c0001t0012g0357 a0001c0001t0013g0322 a0001c0001t0015g0073 a0001c0002t0011g0333	21	412	0.0510	-9	c.75+ others(24): Show c.75+3549_75+3557delTTTTTTTTT	GCM1	ENSG00000137270.11	transcript	ENST00000259803.8	protein_coding	2/5			chr6	TogoVar
GCM1_chr6_53121961_53153841	53142870	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02132.hp2 HG03491.hp2 others(6): Show HG00558.hp2 HG02132.hp2 HG03491.hp2 NA18747.hp2 NA18979.hp1 NA18987.hp2 NA19064.hp1 NA19077.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010	a0001c0001t0001g0141 a0001c0001t0001g0158 a0001c0001t0001g0172 others(6): Show a0001c0001t0001g0141 a0001c0001t0001g0158 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0002g0165 a0001c0001t0003g0220 a0001c0001t0005g0219 a0001c0001t0010g0051 a0001c0001t0010g0053	9	412	0.0218	-9	c.75+ others(24): Show c.75+2679_75+2687delTTTTTTTTT	GCM1	ENSG00000137270.11	transcript	ENST00000259803.8	protein_coding	2/5			chr6	TogoVar
GCM2_chr6_10868223_10887041	10870163	TCCATCTC others(2): Show TCCATCTCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG02257.hp1 HG02451.hp2 others(2): Show HG00735.hp2 HG02257.hp1 HG02451.hp2 HG02559.hp1 NA19240.hp1	a0001 a0009 a0001 a0009	a0001c0005 a0009c0010 a0001c0005 a0009c0010	a0001c0005t0006 a0009c0010t0006 a0001c0005t0006 a0009c0010t0006	a0001c0005t0006g0079 a0001c0005t0006g0080 a0001c0005t0006g0081 others(2): Show a0001c0005t0006g0079 a0001c0005t0006g0080 a0001c0005t0006g0081 a0001c0005t0006g0082 a0009c0010t0006g0078	5	426	0.0117	-9	c.38 others(20): Show c.3823_*3831delTGGAGATGG	GCM2	ENSG00000124827.7	transcript	ENST00000379491.5	protein_coding		3059		chr6	TogoVar
GCM2_chr6_10868223_10887041	10884486	CAAAAAAA others(2): Show CAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(79): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00558.hp1 HG00609.hp1 HG00733.hp1 HG00741.hp2 HG01070.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01433.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02129.hp1 HG02155.hp2 HG02300.hp1 HG02451.hp1 HG02630.hp2 HG02698.hp2 HG03195.hp1 HG03225.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18940.hp2 NA18942.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18955.hp1 NA18956.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18978.hp1 NA18983.hp1 NA18983.hp2 NA18989.hp2 NA18991.hp2 NA18994.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19059.hp2 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19072.hp2 NA19075.hp2 NA19077.hp2 NA19080.hp2 NA19084.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0008 a0001c0001 a0011c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0011c0008t0002	a0001c0001t0001g0017 a0001c0001t0001g0031 a0001c0001t0001g0099 others(24): Show a0001c0001t0001g0017 a0001c0001t0001g0031 a0001c0001t0001g0099 a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0033 a0001c0001t0002g0045 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0136 a0001c0001t0005g0020 a0001c0001t0005g0073 a0001c0001t0005g0075 a0001c0001t0011g0083 a0011c0008t0002g0086	82	426	0.1925	-9	c.-27 others(20): Show c.-2702_-2694delTTTTTTTTT	GCM2	ENSG00000124827.7	transcript	ENST00000379491.5	protein_coding		2446		chr6	TogoVar
GCNA_chrX_71573437_71618583	71581251	AAGGTGTT others(2): Show AAGGTGTTTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03130.hp1 HG02280.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0107 a0001c0001t0001g0108	2	265	0.0076	-9	c.59+ others(22): Show c.59+372_59+380delAGGTGTTTT	GCNA	ENSG00000147174.12	transcript	ENST00000373696.8	protein_coding	2/12			chrX	TogoVar
GCNT2_chr6_10516351_10634368	10537733	AAAGAAAA others(2): Show AAAGAAAACG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03490.hp1 HG03492.hp2 HG00642.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0243 a0001c0001t0007g0244 a0001c0001t0007g0245 a0001c0001t0007g0243 a0001c0001t0007g0244 a0001c0001t0007g0245	3	324	0.0093	-9	c.925 others(26): Show c.925+7900_925+7908delGAAAACGAA	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10563772	AAAAAAAT others(2): Show AAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01934.hp1 HG01993.hp1 others(3): Show HG01071.hp1 HG01934.hp1 HG01993.hp1 HG02258.hp2 HG02895.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0267 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0310	6	324	0.0185	-9	c.925 others(28): Show c.925+33938_925+33946delAAAAATATA	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10617747	CTTCTTTT others(2): Show CTTCTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01361.hp1 HG01361.hp2 others(22): Show HG01175.hp1 HG01361.hp1 HG01361.hp2 HG01891.hp2 HG01978.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp2 HG02615.hp1 HG02647.hp2 HG02698.hp1 HG02809.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG03471.hp2 HG03579.hp2 HG04199.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0001 a0001c0001t0003 a0001c0001t0011	a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0017 others(22): Show a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0045 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0218 a0001c0001t0001g0259 a0001c0001t0001g0299 a0001c0001t0001g0317 a0001c0001t0001g0321 a0001c0001t0003g0234 a0001c0001t0011g0002	25	324	0.0772	-9	c.926 others(26): Show c.926-3601_926-3593delCTTTTTTTT	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10563772	AAAAAAAT others(2): Show AAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01934.hp1 HG01993.hp2 others(3): Show HG01071.hp2 HG01934.hp1 HG01993.hp2 HG02258.hp2 HG02895.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 a0001c0001 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0006t0001 a0001c0007t0001 a0001c0001t0001 a0001c0006t0001 a0001c0007t0001	a0001c0001t0001g0010 a0001c0001t0001g0057 a0001c0001t0001g0058 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0006t0001g0060 a0001c0007t0001g0011	6	344	0.0174	-9	c.919 others(26): Show c.919+6432_919+6440delAAAAATATA	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10617747	CTTCTTTT others(2): Show CTTCTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01175.hp2 HG01361.hp1 others(23): Show HG01070.hp2 HG01175.hp2 HG01361.hp1 HG01361.hp2 HG01891.hp1 HG01978.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02615.hp2 HG02698.hp2 HG02809.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03471.hp1 HG03579.hp2 HG04199.hp2 NA18522.hp2 NA18612.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 others(23): Show a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0088 a0001c0001t0001g0103 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0213 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0280 a0001c0001t0001g0288 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0322 a0001c0001t0001g0333 a0001c0001t0004g0268 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0284 a0002c0003t0001g0269	26	344	0.0756	-9	c.920 others(26): Show c.920-3601_920-3593delCTTTTTTTT	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT3_chr15_59606783_59627723	59611167	TCTCCTCC others(2): Show TCTCCTCCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp1 NA18990.hp1 NA19068.hp2 NA18981.hp1 NA18990.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0001t0003g0038 a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0001t0003g0038	3	428	0.0070	-9	c.-10 others(20): Show c.-1064_-1056delCTCCTCCCC	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		615		chr15	TogoVar
GDF10_chr10_47295197_47318577	47304996	ACTGTTGT others(2): Show ACTGTTGTGG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00438.hp2 others(81): Show HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG01175.hp2 HG01255.hp1 HG01934.hp2 HG02040.hp1 HG02080.hp2 HG02083.hp1 HG02165.hp1 HG02280.hp2 HG02293.hp2 HG02523.hp1 HG02602.hp2 HG03491.hp1 HG03654.hp2 HG03831.hp1 HG04115.hp2 HG04184.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18969.hp2 NA18971.hp2 NA18975.hp2 NA18978.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp2 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19006.hp2 NA19010.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 a0001c0002t0002 a0001c0002t0004 a0001c0011t0003	a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0080 others(25): Show a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0080 a0001c0001t0001g0124 a0001c0001t0002g0003 a0001c0001t0002g0014 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0003g0023 a0001c0001t0003g0073 a0001c0001t0005g0092 a0001c0001t0007g0008 a0001c0001t0007g0058 a0001c0001t0007g0059 a0001c0001t0010g0003 a0001c0001t0015g0089 a0001c0002t0002g0003 a0001c0002t0004g0110 a0001c0011t0003g0023	84	398	0.2111	-9	c.319 others(26): Show c.319+4027_319+4035delCTGTTGTGG	GDF10	ENSG00000266524.3	transcript	ENST00000580279.2	protein_coding	1/2			chr10	TogoVar
GDF5_chr20_35428347_35443228	35435450	TAAAAAAA others(2): Show TAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01261.hp1 HG01433.hp1 others(14): Show HG01192.hp2 HG01261.hp1 HG01433.hp1 HG02145.hp1 HG02257.hp1 HG03704.hp1 HG04184.hp2 NA18946.hp1 NA18956.hp2 NA18967.hp2 NA18970.hp2 NA18978.hp1 NA18988.hp1 NA19000.hp1 NA19067.hp2 NA19079.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 others(1): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0009	a0002c0002t0002g0007 a0002c0002t0002g0039 a0002c0002t0002g0051 others(3): Show a0002c0002t0002g0007 a0002c0002t0002g0039 a0002c0002t0002g0051 a0002c0002t0005g0067 a0002c0002t0006g0034 a0002c0002t0009g0050	17	360	0.0472	-9	c.632 others(24): Show c.632-676_632-668delTTTTTTTTT	GDF5	ENSG00000125965.9	transcript	ENST00000374369.8	protein_coding	1/1			chr20	TogoVar
GDF9_chr5_132856185_132871469	132859187	CTTTGTAT others(2): Show CTTTGTATTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG02630.hp1 others(2): Show HG02055.hp2 HG02451.hp1 HG02630.hp1 HG02922.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0011 a0001c0001t0009g0011	5	464	0.0108	-9	c.23 others(20): Show c.2393_*2401delAAATACAAA	GDF9	ENSG00000164404.9	transcript	ENST00000687138.1	protein_coding		1997		chr5	TogoVar
GDI1_chrX_154432154_154448467	154437178	CGGCGGCG others(2): Show CGGCGGCGGT	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	283	0.0035	-9	c.-68 others(16): Show c.-68_-60delTGGCGGCGG	GDI1	ENSG00000203879.12	transcript	ENST00000447750.7	protein_coding	1/11	60	INFO_REALIGN_3_PRIME	chrX	TogoVar
GDI1_chrX_154432154_154448467	154444203	CCCGCCGC others(2): Show CCCGCCGCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01346.hp1 HG01123.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	2	283	0.0071	-9	c.15 others(20): Show c.1532_*1540delCCGCCGCCG	GDI1	ENSG00000203879.12	transcript	ENST00000447750.7	protein_coding		737		chrX	TogoVar
GDI2_chr10_5760223_5818434	5780524	TAAAACTA others(2): Show TAAAACTAGA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00423.hp2 others(166): Show HG00140.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02135.hp2 HG02258.hp1 HG02486.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02735.hp1 HG02886.hp2 HG02922.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18953.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18965.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18985.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19065.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0019 a0001c0002t0002 a0001c0002t0008 a0001c0002t0012 a0001c0005t0002	a0001c0001t0001g0093 a0001c0001t0001g0204 a0001c0001t0002g0029 others(158): Show a0001c0001t0001g0093 a0001c0001t0001g0204 a0001c0001t0002g0029 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0052 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0003g0014 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0327 a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0330 a0001c0001t0003g0331 a0001c0001t0003g0332 a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0003g0338 a0001c0001t0003g0339 a0001c0001t0003g0342 a0001c0001t0003g0344 a0001c0001t0003g0345 a0001c0001t0003g0347 a0001c0001t0003g0348 a0001c0001t0003g0349 a0001c0001t0003g0350 a0001c0001t0003g0351 a0001c0001t0003g0352 a0001c0001t0003g0353 a0001c0001t0003g0354 a0001c0001t0003g0355 a0001c0001t0003g0356 a0001c0001t0003g0358 a0001c0001t0003g0360 a0001c0001t0003g0361 a0001c0001t0003g0362 a0001c0001t0003g0363 a0001c0001t0004g0046 a0001c0001t0006g0015 a0001c0001t0006g0016 a0001c0001t0006g0324 a0001c0001t0006g0337 a0001c0001t0006g0343 a0001c0001t0006g0346 a0001c0001t0006g0357 a0001c0001t0006g0359 a0001c0001t0007g0083 a0001c0001t0007g0097 a0001c0001t0007g0098 a0001c0001t0007g0099 a0001c0001t0007g0100 a0001c0001t0007g0101 a0001c0001t0007g0102 a0001c0001t0009g0371 a0001c0001t0009g0372 a0001c0001t0009g0373 a0001c0001t0009g0374 a0001c0001t0009g0375 a0001c0001t0009g0376 a0001c0001t0010g0335 a0001c0001t0010g0336 a0001c0001t0010g0340 a0001c0001t0010g0341 a0001c0001t0016g0065 a0001c0001t0019g0314 a0001c0002t0002g0001 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0028 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0045 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0051 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0062 a0001c0002t0002g0064 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0082 a0001c0002t0002g0103 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0008g0364 a0001c0002t0008g0365 a0001c0002t0008g0366 a0001c0002t0008g0367 a0001c0002t0008g0368 a0001c0002t0008g0369 a0001c0002t0008g0370 a0001c0002t0012g0049 a0001c0002t0012g0050 a0001c0005t0002g0061	169	398	0.4246	-9	c.719 others(26): Show c.719+4609_719+4617delTCTAGTTTT	GDI2	ENSG00000057608.17	transcript	ENST00000380191.9	protein_coding	6/10			chr10	TogoVar
GDI2_chr10_5760223_5818434	5794185	AAAAATAT others(2): Show AAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01928.hp2 others(3): Show HG01256.hp2 HG01258.hp2 HG01928.hp2 HG02004.hp1 HG02132.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0139 a0001c0001t0004g0140 a0001c0001t0004g0141 others(3): Show a0001c0001t0004g0139 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0205 a0001c0001t0004g0214 a0001c0001t0004g0215	6	398	0.0151	-9	c.388 others(24): Show c.388+691_388+699delATATATTTT	GDI2	ENSG00000057608.17	transcript	ENST00000380191.9	protein_coding	4/10			chr10	TogoVar
GDI2_chr10_5760223_5818434	5794187	AAATATAT others(2): Show AAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG00738.hp2 others(23): Show HG00642.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01106.hp2 HG01255.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01981.hp2 HG02129.hp2 HG02257.hp1 HG02622.hp2 HG02647.hp2 HG02809.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp2 NA19043.hp2 NA19057.hp1 NA19090.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0003c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0107 others(19): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0107 a0001c0001t0001g0130 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0305 a0001c0001t0004g0115 a0001c0001t0004g0151 a0001c0001t0004g0152 a0001c0001t0004g0176 a0001c0001t0004g0206 a0001c0001t0011g0121 a0003c0006t0001g0127	26	398	0.0653	-9	c.388 others(24): Show c.388+689_388+697delATATATATT	GDI2	ENSG00000057608.17	transcript	ENST00000380191.9	protein_coding	4/10			chr10	TogoVar
GDI2_chr10_5760223_5818434	5794189	ATATATAT others(2): Show ATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02647.hp1 HG02976.hp1 HG00639.hp2 HG02647.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0166 a0001c0001t0001g0180 a0001c0002t0002g0041 a0001c0001t0001g0166 a0001c0001t0001g0180 a0001c0002t0002g0041	3	398	0.0075	-9	c.388 others(24): Show c.388+687_388+695delATATATATA	GDI2	ENSG00000057608.17	transcript	ENST00000380191.9	protein_coding	4/10			chr10	TogoVar
GDPD1_chr17_59215511_59280970	59229122	GTTATTAT others(2): Show GTTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03041.hp2 HG03139.hp2 others(3): Show HG02258.hp1 HG03041.hp2 HG03139.hp2 NA18967.hp2 NA19074.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0020 a0001c0001t0001 a0001c0001t0013 a0001c0001t0020	a0001c0001t0001g0033 a0001c0001t0001g0110 a0001c0001t0001g0132 others(3): Show a0001c0001t0001g0033 a0001c0001t0001g0110 a0001c0001t0001g0132 a0001c0001t0001g0253 a0001c0001t0013g0065 a0001c0001t0020g0052	6	312	0.0192	-9	c.143 others(26): Show c.143-5331_143-5323delATTATTATT	GDPD1	ENSG00000153982.11	transcript	ENST00000284116.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
GDPD1_chr17_59215511_59280970	59260060	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02132.hp1 HG02523.hp2 others(13): Show HG00408.hp1 HG02132.hp1 HG02523.hp2 HG03041.hp1 HG03098.hp1 HG03516.hp1 HG03540.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG04204.hp2 NA18968.hp1 NA18978.hp2 NA19065.hp2 NA19240.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0016 a0001c0001t0021 a0001c0001t0026	a0001c0001t0002g0200 a0001c0001t0002g0227 a0001c0001t0005g0007 others(13): Show a0001c0001t0002g0200 a0001c0001t0002g0227 a0001c0001t0005g0007 a0001c0001t0005g0010 a0001c0001t0005g0012 a0001c0001t0005g0014 a0001c0001t0005g0015 a0001c0001t0005g0017 a0001c0001t0005g0022 a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0007g0237 a0001c0001t0016g0254 a0001c0001t0021g0001 a0001c0001t0021g0020 a0001c0001t0026g0257	16	312	0.0513	-9	c.576 others(26): Show c.576+2252_576+2260delAAAAAAAAA	GDPD1	ENSG00000153982.11	transcript	ENST00000284116.9	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
GDPD1_chr17_59215511_59280970	59274512	CAAAAAAA others(2): Show CAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00438.hp1 others(115): Show HG00099.hp1 HG00423.hp2 HG00438.hp1 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01515.hp2 HG01884.hp2 HG01891.hp1 HG01952.hp1 HG02055.hp1 HG02056.hp2 HG02080.hp2 HG02129.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03688.hp2 HG03831.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18984.hp2 NA18991.hp2 NA18994.hp1 NA19001.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19056.hp2 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19088.hp1 NA19240.hp1 NA20300.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0024 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0002t0002 a0001c0006t0002	a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0165 others(115): Show a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0312 a0001c0001t0009g0075 a0001c0001t0009g0076 a0001c0001t0009g0077 a0001c0001t0009g0247 a0001c0001t0009g0248 a0001c0001t0010g0078 a0001c0001t0010g0079 a0001c0001t0010g0081 a0001c0001t0010g0156 a0001c0001t0010g0246 a0001c0001t0014g0167 a0001c0001t0014g0177 a0001c0001t0014g0186 a0001c0001t0014g0220 a0001c0001t0024g0296 a0001c0001t0035g0249 a0001c0001t0037g0263 a0001c0001t0038g0216 a0001c0002t0002g0245 a0001c0006t0002g0222	118	312	0.3782	-9	c.75 others(18): Show c.755_*763delAAAAAAAAA	GDPD1	ENSG00000153982.11	transcript	ENST00000284116.9	protein_coding	10/10	755	INFO_REALIGN_3_PRIME	chr17	TogoVar
GDPD4_chr11_77211558_77306686	77223723	TTCAGAGC others(2): Show TTCAGAGCTG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02280.hp1 HG02486.hp1 others(3): Show HG00639.hp2 HG02280.hp1 HG02486.hp1 HG02647.hp1 HG02723.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0176 a0001c0001t0005g0177 others(2): Show a0001c0001t0005g0003 a0001c0001t0005g0176 a0001c0001t0005g0177 a0001c0001t0005g0178 a0001c0001t0005g0179	6	350	0.0171	-9	c.152 others(28): Show c.1525+4132_1525+4140delCAGCTCTGA	GDPD4	ENSG00000178795.10	transcript	ENST00000315938.5	protein_coding	16/16			chr11	TogoVar
GDPGP1_chr15_90229209_90250811	90248718	CAAAAAAA others(2): Show CAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02622.hp1 HG02717.hp1 others(5): Show HG02559.hp2 HG02622.hp1 HG02717.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp2 HG03516.hp2 NA18993.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0005c0005 a0006c0006 a0001c0001 a0005c0005 a0006c0006	a0001c0001t0054 a0001c0001t0091 a0005c0005t0043 others(3): Show a0001c0001t0054 a0001c0001t0091 a0005c0005t0043 a0005c0005t0129 a0006c0006t0012 a0006c0006t0019	a0001c0001t0054g0048 a0001c0001t0091g0011 a0005c0005t0043g0035 others(4): Show a0001c0001t0054g0048 a0001c0001t0091g0011 a0005c0005t0043g0035 a0005c0005t0129g0018 a0006c0006t0012g0025 a0006c0006t0019g0025 a0006c0006t0019g0026	8	438	0.0183	-9	c.66 others(20): Show c.6653_*6661delAAAAAAAAA	GDPGP1	ENSG00000183208.13	transcript	ENST00000329600.8	protein_coding		2908		chr15	TogoVar
GEMIN5_chr5_154882411_154943211	154927846	TTGGGCAT others(2): Show TTGGGCATGG	T T	intron_variant intron_variant	MODIFIER	HG01993.hp1 NA18978.hp2 NA19085.hp1 HG01993.hp1 NA18978.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260	3	338	0.0089	-9	c.915 others(24): Show c.915-305_915-297delCCATGCCCA	GEMIN5	ENSG00000082516.9	transcript	ENST00000285873.8	protein_coding	6/27			chr5	TogoVar
GEMIN6_chr2_38773210_38790002	38773823	CTTTCTTT others(2): Show CTTTCTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG02080.hp2 HG03710.hp1 others(1): Show HG00621.hp1 HG02080.hp2 HG03710.hp1 NA19002.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0009 a0002c0002t0001 a0001c0001t0001 a0001c0001t0009 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0113 a0001c0001t0009g0056 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0113 a0001c0001t0009g0056 a0002c0002t0001g0018	4	412	0.0097	-9	c.-44 others(20): Show c.-4477_-4469delTTTCTTTCT	GEMIN6	ENSG00000152147.11	transcript	ENST00000281950.8	protein_coding		4386		chr2	TogoVar
GEMIN8_chrX_14001726_14034892	14016844	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0191 a0002c0002t0002g0191	1	273	0.0037	-9	c.472 others(26): Show c.472+3225_472+3233delTTTTTTTTT	GEMIN8	ENSG00000046647.14	transcript	ENST00000680255.1	protein_coding	4/4			chrX	TogoVar
GFM2_chr5_74716206_74772117	74728748	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02148.hp2 HG03225.hp1 others(10): Show HG00735.hp1 HG02148.hp2 HG03225.hp1 HG03492.hp1 HG03492.hp2 HG03710.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18995.hp2 NA18998.hp2 NA19001.hp2 NA19085.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0011 a0007c0010 a0001c0001 a0001c0011 a0007c0010	a0001c0001t0001 a0001c0011t0002 a0007c0010t0001 a0001c0001t0001 a0001c0011t0002 a0007c0010t0001	a0001c0001t0001g0158 a0001c0001t0001g0176 a0001c0001t0001g0182 others(10): Show a0001c0001t0001g0158 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0011t0002g0042 a0001c0011t0002g0070 a0007c0010t0001g0188 a0007c0010t0001g0222 a0007c0010t0001g0234	13	372	0.0350	-9	c.172 others(28): Show c.1726+1503_1726+1511delAAAAAAAAA	GFM2	ENSG00000164347.18	transcript	ENST00000296805.8	protein_coding	17/20			chr5	TogoVar
GFOD1_chr6_13352830_13492600	13475719	AAATAATA others(2): Show AAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG00735.hp2 others(50): Show HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01168.hp2 HG01175.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG01891.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02129.hp1 HG02129.hp2 HG02300.hp2 HG02486.hp2 HG02717.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03209.hp1 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03710.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18950.hp1 NA18965.hp1 NA18984.hp1 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19030.hp1 NA19068.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0048 a0001c0001t0064 a0001c0001t0068 a0001c0001t0088 a0001c0001t0092 a0001c0001t0099 a0001c0001t0112 a0001c0001t0114 a0001c0001t0115 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0126 a0001c0001t0127 a0001c0001t0129 a0001c0001t0131 a0001c0001t0139 a0001c0001t0141 a0001c0002t0008 a0001c0002t0032 a0001c0004t0019 a0001c0004t0085 a0001c0005t0013	a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0002g0063 others(50): Show a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0002g0063 a0001c0001t0003g0201 a0001c0001t0006g0051 a0001c0001t0006g0053 a0001c0001t0009g0186 a0001c0001t0009g0190 a0001c0001t0010g0214 a0001c0001t0014g0098 a0001c0001t0016g0024 a0001c0001t0017g0021 a0001c0001t0017g0023 a0001c0001t0018g0031 a0001c0001t0021g0048 a0001c0001t0022g0069 a0001c0001t0026g0169 a0001c0001t0026g0181 a0001c0001t0027g0182 a0001c0001t0028g0175 a0001c0001t0028g0189 a0001c0001t0042g0028 a0001c0001t0045g0022 a0001c0001t0046g0030 a0001c0001t0048g0032 a0001c0001t0064g0070 a0001c0001t0068g0118 a0001c0001t0088g0065 a0001c0001t0092g0121 a0001c0001t0099g0125 a0001c0001t0112g0172 a0001c0001t0114g0183 a0001c0001t0115g0192 a0001c0001t0118g0179 a0001c0001t0119g0191 a0001c0001t0120g0187 a0001c0001t0121g0171 a0001c0001t0122g0168 a0001c0001t0123g0170 a0001c0001t0124g0184 a0001c0001t0126g0180 a0001c0001t0127g0212 a0001c0001t0129g0202 a0001c0001t0131g0199 a0001c0001t0139g0218 a0001c0001t0141g0228 a0001c0002t0008g0052 a0001c0002t0008g0060 a0001c0002t0032g0029 a0001c0004t0019g0166 a0001c0004t0019g0167 a0001c0004t0085g0165 a0001c0005t0013g0132	53	230	0.2304	-9	c.253 others(28): Show c.253+10910_253+10918delATTATTATT	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GFPT1_chr2_69314780_69392227	69360328	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp2 HG01074.hp2 others(38): Show HG00558.hp1 HG00642.hp2 HG01074.hp2 HG01106.hp2 HG01168.hp1 HG01175.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01952.hp1 HG01981.hp2 HG02040.hp2 HG02071.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp2 HG02630.hp1 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02818.hp2 HG02886.hp2 HG02976.hp1 HG03041.hp1 HG03195.hp1 HG03225.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03927.hp1 NA18522.hp2 NA18950.hp1 NA19004.hp2 NA19240.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0022 a0001c0001t0043 others(2): Show a0001c0001t0003 a0001c0001t0022 a0001c0001t0043 a0001c0001t0045 a0001c0001t0052	a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 others(35): Show a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0032 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0022g0017 a0001c0001t0043g0071 a0001c0001t0045g0058 a0001c0001t0052g0076	41	366	0.1120	-9	c.350 others(26): Show c.350-1011_350-1003delTTTTTTTTT	GFPT1	ENSG00000198380.13	transcript	ENST00000357308.9	protein_coding	4/19			chr2	TogoVar
GFPT2_chr5_180295698_180358336	180310832	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01975.hp1 HG03239.hp1 others(9): Show HG00099.hp1 HG01975.hp1 HG03239.hp1 HG03239.hp2 NA18946.hp1 NA18966.hp2 NA18970.hp1 NA19004.hp2 NA19060.hp2 NA19064.hp1 NA19068.hp2 NA19087.hp2	a0003 a0003	a0003c0006 a0003c0013 a0003c0006 a0003c0013	a0003c0006t0001 a0003c0006t0002 a0003c0006t0012 others(1): Show a0003c0006t0001 a0003c0006t0002 a0003c0006t0012 a0003c0013t0001	a0003c0006t0001g0224 a0003c0006t0001g0225 a0003c0006t0001g0226 others(8): Show a0003c0006t0001g0224 a0003c0006t0001g0225 a0003c0006t0001g0226 a0003c0006t0001g0229 a0003c0006t0001g0232 a0003c0006t0001g0233 a0003c0006t0002g0014 a0003c0006t0012g0159 a0003c0006t0012g0173 a0003c0013t0001g0227 a0003c0013t0001g0228	12	412	0.0291	-9	c.154 others(28): Show c.1546+1589_1546+1597delTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding	15/18			chr5	TogoVar
GFPT2_chr5_180295698_180358336	180318534	GCAGCTGA others(2): Show GCAGCTGACA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02622.hp2 HG03540.hp2 others(2): Show HG02145.hp2 HG02622.hp2 HG03540.hp2 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0009 a0001c0021 a0001c0005 a0001c0009 a0001c0021	a0001c0005t0006 a0001c0009t0001 a0001c0009t0002 others(2): Show a0001c0005t0006 a0001c0009t0001 a0001c0009t0002 a0001c0009t0006 a0001c0021t0002	a0001c0005t0006g0380 a0001c0009t0001g0172 a0001c0009t0002g0367 others(2): Show a0001c0005t0006g0380 a0001c0009t0001g0172 a0001c0009t0002g0367 a0001c0009t0006g0384 a0001c0021t0002g0271	5	412	0.0121	-9	c.958 others(24): Show c.958+250_958+258delTGTCAGCTG	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding	10/18			chr5	TogoVar

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