Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FGD6_chr12_95071749_95222467	95148910	A A	ATATATTA others(42): Show ATATATTATATAATATATAGCATATATATAATATTATATAATATATATGC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01433.hp1 HG01952.hp1 others(3): Show HG01099.hp2 HG01433.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0031 a0001c0001t0001 a0002c0005t0031	a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 others(3): Show a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0157 a0001c0001t0001g0180 a0002c0005t0031g0247	6	384	0.0156	49	c.268 others(68): Show c.2685+3900_2685+3901insGCATATATATTATATAATATTATATA TATGCTATATATTATATAATATA	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	5/20			chr12	TogoVar
FGF13_chrX_138609727_138716717	138623405	G G	GAAAGGAT others(42): Show GAAAGGATTGGTATTAGTTTTCCTAAACGGTGGTGGAATCCAATATAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0036 a0001c0001t0064g0036	1	240	0.0042	49	c.94 others(60): Show c.9444_*9445insTTTTATATTGGATTCCACCACCGTTTAGGAAAAC TAATACCAATCCTTT	FGF13	ENSG00000129682.16	transcript	ENST00000315930.11	protein_coding	5/5	9444		chrX	TogoVar
FGF18_chr5_171414647_171462626	171461629	C C	CTTTCTTT others(42): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	388	0.0026	49	c.48 others(60): Show c.4824_*4825insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCT	FGF18	ENSG00000156427.8	transcript	ENST00000274625.6	protein_coding		4004		chr5	TogoVar
FGGY_chr1_59292094_59767730	59491040	T T	TTTCCTTT others(42): Show TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCCCTCCCC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0109 a0002c0004t0002g0109	1	166	0.0060	49	c.671 others(68): Show c.671-21270_671-21269insTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTCCCTCCCCT	FGGY	ENSG00000172456.18	transcript	ENST00000303721.12	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
FGGY_chr1_59292094_59767730	59491041	T T	TTCCTTTC others(42): Show TTCCTTTCCTTTCCTTCCCTCCCCTCCCTCCTTCTTTCTCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02723.hp2 NA20129.hp2 HG01257.hp1 HG02723.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0015 a0002c0004 a0001c0001 a0001c0015 a0002c0004	a0001c0001t0001 a0001c0015t0002 a0002c0004t0002 a0001c0001t0001 a0001c0015t0002 a0002c0004t0002	a0001c0001t0001g0133 a0001c0015t0002g0132 a0002c0004t0002g0116 a0001c0001t0001g0133 a0001c0015t0002g0132 a0002c0004t0002g0116	3	166	0.0181	49	c.671 others(68): Show c.671-21270_671-21269insTCCTTTCCTTTCCTTCCCTCCCCTCC CTCCTTCTTTCTCTCCCTCCCTC	FGGY	ENSG00000172456.18	transcript	ENST00000303721.12	protein_coding	6/15			chr1	TogoVar
FGGY_chr1_59292094_59767730	59491041	T T	TTCCTTTC others(42): Show TTCCTTTCCTTTCCTTCCCTCCCCTCCCTCCTTCTTTCTTTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA19063.hp2 NA21309.hp2 HG02738.hp2 NA19063.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0146 a0001c0001t0001g0147 a0002c0002t0001g0050 a0001c0001t0001g0146 a0001c0001t0001g0147 a0002c0002t0001g0050	3	166	0.0181	49	c.671 others(68): Show c.671-21270_671-21269insTCCTTTCCTTTCCTTCCCTCCCCTCC CTCCTTCTTTCTTTCCCTCCCTC	FGGY	ENSG00000172456.18	transcript	ENST00000303721.12	protein_coding	6/15			chr1	TogoVar
FHIP1A_chr4_151404176_151675503	151526418	T T	TGGCTGGC others(42): Show TGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGAGGC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01099.hp2 HG01978.hp2 others(9): Show HG00741.hp1 HG01099.hp2 HG01978.hp2 HG02572.hp1 HG02647.hp2 HG02965.hp1 HG03098.hp1 HG03195.hp2 HG04184.hp1 NA18612.hp1 NA19055.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0022 a0001c0001t0040 others(6): Show a0001c0001t0006 a0001c0001t0022 a0001c0001t0040 a0001c0002t0002 a0001c0002t0007 a0001c0002t0016 a0001c0002t0024 a0001c0002t0025 a0001c0002t0045	a0001c0001t0006g0042 a0001c0001t0006g0054 a0001c0001t0022g0006 others(9): Show a0001c0001t0006g0042 a0001c0001t0006g0054 a0001c0001t0022g0006 a0001c0001t0040g0009 a0001c0002t0002g0018 a0001c0002t0002g0075 a0001c0002t0002g0092 a0001c0002t0007g0083 a0001c0002t0016g0079 a0001c0002t0024g0016 a0001c0002t0025g0017 a0001c0002t0045g0066	12	252	0.0476	49	c.-12 others(70): Show c.-122-39676_-122-39628dupTGAGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGA	FHIP1A	ENSG00000164142.16	transcript	ENST00000435205.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FHIP1A_chr4_151404176_151675503	151526479	C C	CGGGGGGC others(42): Show CGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGAGGCGGCTGGCCGGGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00558.hp1 others(65): Show HG00280.hp1 HG00323.hp1 HG00558.hp1 HG00639.hp1 HG00642.hp2 HG01070.hp1 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01258.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01884.hp2 HG01934.hp1 HG02055.hp2 HG02071.hp1 HG02083.hp1 HG02132.hp2 HG02258.hp2 HG02523.hp1 HG02602.hp1 HG02723.hp1 HG02922.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03471.hp1 HG03490.hp1 HG03579.hp1 HG03654.hp2 HG03942.hp1 HG04115.hp1 HG06807.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18943.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18953.hp1 NA18964.hp1 NA18966.hp2 NA18970.hp2 NA18977.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18998.hp1 NA19005.hp2 NA19006.hp1 NA19010.hp1 NA19030.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19082.hp1 NA19084.hp1 NA19086.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0010c0018	a0001c0001t0006 a0001c0001t0022 a0001c0001t0039 others(15): Show a0001c0001t0006 a0001c0001t0022 a0001c0001t0039 a0001c0001t0046 a0001c0002t0002 a0001c0002t0006 a0001c0002t0008 a0001c0002t0014 a0001c0002t0016 a0001c0002t0023 a0001c0002t0024 a0001c0002t0025 a0001c0002t0038 a0001c0002t0043 a0001c0002t0057 a0001c0002t0062 a0001c0006t0002 a0010c0018t0002	a0001c0001t0006g0028 a0001c0001t0006g0034 a0001c0001t0006g0063 others(65): Show a0001c0001t0006g0028 a0001c0001t0006g0034 a0001c0001t0006g0063 a0001c0001t0006g0068 a0001c0001t0022g0025 a0001c0001t0039g0056 a0001c0001t0046g0067 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0040 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0046 a0001c0002t0002g0049 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0055 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0064 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0006g0024 a0001c0002t0006g0039 a0001c0002t0006g0041 a0001c0002t0008g0047 a0001c0002t0008g0069 a0001c0002t0008g0084 a0001c0002t0008g0085 a0001c0002t0008g0093 a0001c0002t0014g0050 a0001c0002t0014g0073 a0001c0002t0014g0089 a0001c0002t0016g0080 a0001c0002t0016g0081 a0001c0002t0023g0029 a0001c0002t0023g0030 a0001c0002t0024g0026 a0001c0002t0025g0027 a0001c0002t0038g0082 a0001c0002t0043g0062 a0001c0002t0057g0136 a0001c0002t0062g0048 a0001c0006t0002g0023 a0001c0006t0002g0072 a0010c0018t0002g0053	68	252	0.2698	49	c.-12 others(70): Show c.-122-39628_-122-39627insTGAGGCGGCTGGCCGGGTGGGGGG CTGACCCCCCCACCTCCCTCCCGGA	FHIP1A	ENSG00000164142.16	transcript	ENST00000435205.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FHIP1A_chr4_151404176_151675503	151526495	C C	CCACCTCC others(42): Show CCACCTCCCTCCCGGATGAGGCGGCTGGCCGGGTGGGGGGCTGACCCCCG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02723.hp2 HG02886.hp2 others(2): Show HG02486.hp1 HG02723.hp2 HG02886.hp2 HG02965.hp2 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0026 a0001c0001t0027 a0001c0001t0048 others(2): Show a0001c0001t0026 a0001c0001t0027 a0001c0001t0048 a0001c0001t0060 a0002c0004t0042	a0001c0001t0026g0012 a0001c0001t0027g0011 a0001c0001t0048g0007 others(2): Show a0001c0001t0026g0012 a0001c0001t0027g0011 a0001c0001t0048g0007 a0001c0001t0060g0008 a0002c0004t0042g0010	5	252	0.0198	49	c.-12 others(70): Show c.-122-39628_-122-39627insTGAGGCGGCTGGCCGGGTGGGGGG CTGACCCCCGCACCTCCCTCCCGGA	FHIP1A	ENSG00000164142.16	transcript	ENST00000435205.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FHIT_chr3_59742277_61256452	59986716	A A	ATATAATA others(42): Show ATATAATATAAATATATTTATATAAATATATAATATAAATATATTTATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03225.hp1 NA19043.hp1 HG00735.hp2 HG03225.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0027 a0001c0001t0002g0046 a0001c0001t0015g0010 a0001c0001t0002g0027 a0001c0001t0002g0046 a0001c0001t0015g0010	3	46	0.0652	49	c.279 others(68): Show c.279+24654_279+24655insATATAAATATATTTATATTATATATT TATATAAATATATTTATATTATA	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	7/9			chr3	TogoVar
FKBP2_chr11_64236095_64249132	64237126	G G	GAGAGAGA others(42): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGACAGACAGAGACAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18980.hp1 NA19000.hp2 NA18964.hp1 NA18980.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	3	332	0.0090	49	c.-40 others(60): Show c.-4011_-4010insAGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGAC AGACAGAGACAGACA	FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding		3968		chr11	TogoVar
FLT1_chr13_28295346_28500128	28412350	C C	CTTTCTTT others(42): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	228	0.0044	49	c.143 others(68): Show c.1437-6457_1437-6456insAAGAAAGAAAAAGAAAGAAAGAAAAG AAAGAAAGAAAGAAAGAAAGAAA	FLT1	ENSG00000102755.13	transcript	ENST00000282397.9	protein_coding	10/29			chr13	TogoVar
FLT1_chr13_28295346_28500128	28412350	C C	CTTTCTTT others(42): Show CTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0050 a0001c0002t0001g0050	1	228	0.0044	49	c.143 others(68): Show c.1437-6457_1437-6456insAAGAAAGAAAGAAAGAAAAAGAAAGA AAGAAAAGAAAGAAAGAAAGAAA	FLT1	ENSG00000102755.13	transcript	ENST00000282397.9	protein_coding	10/29			chr13	TogoVar
FLT4_chr5_180596506_180654600	180642124	G G	GTGAACCT others(42): Show GTGAACCTGGCAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATGGCA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0367 a0001c0001t0001g0367	1	388	0.0026	49	c.58+ others(64): Show c.58+7363_58+7364insTGCCATTCTCCTGCCTCAGCCTCTCGAGTA GCTGGGACTGCCAGGTTCA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FMO2_chr1_171180300_171217686	171181768	A A	ATAAGGCA others(42): Show ATAAGGCAACTTAATGAGAGAACTTGTTGGTTTGTTATTTCTCTAAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0009 a0002c0002t0004g0009	1	366	0.0027	49	c.-35 others(60): Show c.-3598_-3597insTAAGGCAACTTAATGAGAGAACTTGTTGGTTTGT TATTTCTCTAAGGTG	FMO2	ENSG00000094963.14	transcript	ENST00000209929.10	protein_coding		3531		chr1	TogoVar
FN1_chr2_215355865_215441068	215401263	G G	GAAGGAAG others(42): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0159 a0003c0007t0002g0159	1	240	0.0042	49	c.325 others(68): Show c.3254-1913_3254-1912insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTT	FN1	ENSG00000115414.21	transcript	ENST00000354785.11	protein_coding	20/45			chr2	TogoVar
FOXI1_chr5_170100897_170114734	170105356	G G	GGGGGGGG others(42): Show GGGGGGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	412	0.0024	49	c.-60 others(58): Show c.-602_-601insGGGGGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGA	FOXI1	ENSG00000168269.10	transcript	ENST00000306268.8	protein_coding		540		chr5	TogoVar
FOXI1_chr5_170100897_170114734	170105356	G G	GGGGGGGG others(42): Show GGGGGGGGGGGGGGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	412	0.0024	49	c.-60 others(58): Show c.-602_-601insGGGGGGGGGGGGGGGGGGGGAGAGAGAGAGAGAGAG AGAGAGAGAGAGA	FOXI1	ENSG00000168269.10	transcript	ENST00000306268.8	protein_coding		540		chr5	TogoVar
FOXI1_chr5_170100897_170114734	170105394	A A	AGAGAGAG others(42): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	412	0.0024	49	c.-56 others(58): Show c.-564_-563insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAG	FOXI1	ENSG00000168269.10	transcript	ENST00000306268.8	protein_coding		502		chr5	TogoVar
FOXK2_chr17_82514732_82609602	82586209	A A	AGGGGAAA others(42): Show AGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02602.hp1 HG01934.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0259 a0001c0001t0005g0216 a0001c0001t0002g0259 a0001c0001t0005g0216	2	308	0.0065	49	c.157 others(64): Show c.1576+43_1576+44insCAAAGGTGGGCCGGGGGGGAAAGGAGGAGA GGGGAGACCACAGGGAGGT	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586308	G G	GGGGGGAA others(42): Show GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0198 a0001c0001t0005g0199	2	308	0.0065	49	c.157 others(66): Show c.1576+112_1576+113insGAAAGGAGGAGAGGGGAGACCACAGGGA GGTGAAAGGTGGGCGGAGGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586398	G G	GGGCCGGG others(42): Show GGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0267	1	308	0.0033	49	c.157 others(66): Show c.1576+201_1576+202insCGGGGGGGAAAGGAGGAGAGGGGAGACC ACAGGGAGGTGAAAGGTAGGC	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586449	C C	CCGGGGGG others(42): Show CCGGGGGGGAAAGGAGGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0206 a0001c0001t0005g0206	1	308	0.0033	49	c.157 others(66): Show c.1576+257_1576+258insAAAGGAGGGAGAGGGGAGACCACAGGGA GGTGAAAGGTGGGCGGGGGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586474	A A	AGACCACA others(42): Show AGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0120 a0001c0001t0017g0120	1	308	0.0033	49	c.157 others(66): Show c.1576+299_1576+300insGGGGGGGGAAAGGAGGAGAGGGGGGACC ACAGGGAGGTCAAAGGTGGGC	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FRMD3_chr9_83239622_83543401	83357115	T T	TAATATAT others(42): Show TAATATATATATTACATTATATATATTATGTATATATATAACATACATGG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03453.hp1 HG02109.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0035 a0001c0001t0002 a0001c0001t0035	a0001c0001t0002g0151 a0001c0001t0035g0001 a0001c0001t0002g0151 a0001c0001t0035g0001	2	242	0.0083	49	c.296 others(66): Show c.296-7407_296-7359dupCCATGTATGTTATATATATACATAATAT ATATAATGTAATATATATATT	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	3/13			chr9	TogoVar
FRMD3_chr9_83239622_83543401	83407847	C C	CTCTCTCT others(42): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCATCTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18948.hp2 NA19084.hp2 HG00621.hp2 NA18948.hp2 NA19084.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0006 a0001c0002t0032 a0003c0006t0001 a0001c0001t0006 a0001c0002t0032 a0003c0006t0001	a0001c0001t0006g0068 a0001c0002t0032g0112 a0003c0006t0001g0183 a0001c0001t0006g0068 a0001c0002t0032g0112 a0003c0006t0001g0183	3	242	0.0124	49	c.148 others(68): Show c.148-18140_148-18139insAAGATGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGA	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FRY_chr13_32026774_32304125	32201641	T T	TTGCATCA others(42): Show TTGCATCAGATAGACTTTTGTGTTCTTTTATCCTGGTGTCCCAGTATTTA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0182 a0003c0007t0002g0182	1	236	0.0042	49	c.374 others(66): Show c.3747-250_3747-202dupTGCATCAGATAGACTTTTGTGTTCTTTT ATCCTGGTGTCCCAGTATTTA	FRY	ENSG00000073910.23	transcript	ENST00000542859.6	protein_coding	29/60		INFO_REALIGN_3_PRIME	chr13	TogoVar
FTCD_chr21_46131779_46160579	46158436	A A	AGAAATGC others(42): Show AGAAATGCTGGCAGGTGCTGTAAATAGCTCCTGAATCGGGGACCCTAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0014 a0014	a0014c0027 a0014c0027	a0014c0027t0002 a0014c0027t0002	a0014c0027t0002g0073 a0014c0027t0002g0073	1	230	0.0044	49	c.-29 others(60): Show c.-2914_-2913insCCTTAGGGTCCCCGATTCAGGAGCTATTTACAGC ACCTGCCAGCATTTC	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2858		chr21	TogoVar
FTO_chr16_53699156_54126941	54058946	T T	TAAAACAA others(42): Show TAAAACAAGGGGATATTGTTTTATATATAAAACAAGGGGATATAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	194	0.0052	49	c.136 others(70): Show c.1365-52816_1365-52815insAAAACAAGGGGATATTGTTTTATA TATAAAACAAGGGGATATAAAAAAA	FTO	ENSG00000140718.22	transcript	ENST00000471389.6	protein_coding	8/8			chr16	TogoVar
FXN_chr9_69030752_69084076	69037284	A A	AAAAGAAG others(42): Show AAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG01070.hp2 HG00099.hp1 HG00741.hp1 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0321 a0001c0001t0006g0360 a0001c0001t0006g0361 a0001c0001t0006g0321 a0001c0001t0006g0360 a0001c0001t0006g0361	3	432	0.0069	49	c.165 others(66): Show c.165+1339_165+1340insAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAA	FXN	ENSG00000165060.15	transcript	ENST00000484259.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
GAB2_chr11_78210293_78422820	78407651	A A	AAGTAAGT others(42): Show AAGTAAGTAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGATGGC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01070.hp1 HG01071.hp1 others(30): Show HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01192.hp1 HG01928.hp2 HG01981.hp2 HG02109.hp2 HG02738.hp2 HG03540.hp2 HG04184.hp2 HG04228.hp1 HG06807.hp2 NA18943.hp1 NA18945.hp1 NA18950.hp1 NA18964.hp2 NA18974.hp2 NA18982.hp1 NA18983.hp2 NA18985.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA19054.hp1 NA19060.hp2 NA19064.hp2 NA19066.hp1 NA19070.hp1 NA19074.hp2 NA19082.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0011 a0001c0001 a0001c0002 a0005c0011	a0001c0001t0003 a0001c0001t0010 a0001c0002t0002 others(5): Show a0001c0001t0003 a0001c0001t0010 a0001c0002t0002 a0001c0002t0005 a0001c0002t0011 a0001c0002t0019 a0001c0002t0028 a0005c0011t0002	a0001c0001t0003g0170 a0001c0001t0010g0066 a0001c0001t0010g0067 others(30): Show a0001c0001t0003g0170 a0001c0001t0010g0066 a0001c0001t0010g0067 a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0023 a0001c0002t0002g0031 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0065 a0001c0002t0002g0068 a0001c0002t0002g0075 a0001c0002t0005g0085 a0001c0002t0005g0086 a0001c0002t0005g0091 a0001c0002t0005g0092 a0001c0002t0011g0077 a0001c0002t0019g0058 a0001c0002t0019g0064 a0001c0002t0028g0014 a0005c0011t0002g0013	33	288	0.1146	49	c.75+ others(64): Show c.75+9994_75+9995insGCCATCTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTACTTACT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GAB2_chr11_78210293_78422820	78407658	T T	TAAGAAAG others(42): Show TAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGATGGCAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02083.hp1 NA19003.hp2 HG00099.hp1 HG02083.hp1 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0005 a0001c0002t0036 a0001c0003t0027 a0001c0002t0005 a0001c0002t0036 a0001c0003t0027	a0001c0002t0005g0082 a0001c0002t0036g0083 a0001c0003t0027g0026 a0001c0002t0005g0082 a0001c0002t0036g0083 a0001c0003t0027g0026	3	288	0.0104	49	c.75+ others(64): Show c.75+9987_75+9988insTCTGCCATCTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GABBR2_chr9_98283109_98713935	98304874	T T	TGATCTTC others(42): Show TGATCTTCCTACTTCAGCCTCCTGAGTAGCCGGGACTATAGGTGTGTACC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00621.hp1 others(45): Show HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG01081.hp2 HG01106.hp1 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp2 HG02109.hp1 HG02135.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03041.hp2 HG03209.hp1 HG03239.hp1 HG03471.hp2 HG03579.hp1 HG03579.hp2 HG04199.hp2 NA18522.hp1 NA18906.hp1 NA18952.hp1 NA18955.hp1 NA18963.hp2 NA18969.hp1 NA18994.hp1 NA18995.hp1 NA19002.hp1 NA19007.hp1 NA19010.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0015 a0001c0024 a0002c0004 a0002c0006 a0002c0008 a0002c0009 a0002c0010 a0002c0011 a0002c0016 a0002c0022	a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 others(29): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0001t0026 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0015 a0001c0005t0001 a0001c0005t0003 a0001c0005t0013 a0001c0005t0014 a0001c0005t0031 a0001c0007t0016 a0001c0015t0001 a0001c0015t0014 a0001c0024t0001 a0002c0004t0002 a0002c0006t0004 a0002c0006t0007 a0002c0008t0004 a0002c0008t0007 a0002c0008t0020 a0002c0009t0002 a0002c0009t0006 a0002c0010t0004 a0002c0010t0007 a0002c0011t0002 a0002c0016t0027 a0002c0016t0044 a0002c0022t0029	a0001c0001t0003g0030 a0001c0001t0009g0115 a0001c0001t0015g0042 others(45): Show a0001c0001t0003g0030 a0001c0001t0009g0115 a0001c0001t0015g0042 a0001c0001t0016g0037 a0001c0001t0026g0011 a0001c0002t0001g0137 a0001c0002t0001g0162 a0001c0002t0003g0026 a0001c0003t0001g0087 a0001c0003t0001g0099 a0001c0003t0001g0142 a0001c0003t0015g0041 a0001c0005t0001g0070 a0001c0005t0003g0054 a0001c0005t0013g0072 a0001c0005t0013g0080 a0001c0005t0013g0081 a0001c0005t0013g0118 a0001c0005t0014g0034 a0001c0005t0014g0040 a0001c0005t0031g0002 a0001c0007t0016g0018 a0001c0015t0001g0076 a0001c0015t0001g0135 a0001c0015t0014g0039 a0001c0024t0001g0116 a0002c0004t0002g0008 a0002c0006t0004g0145 a0002c0006t0004g0148 a0002c0006t0007g0006 a0002c0006t0007g0024 a0002c0006t0007g0031 a0002c0006t0007g0033 a0002c0008t0004g0086 a0002c0008t0004g0120 a0002c0008t0004g0161 a0002c0008t0007g0059 a0002c0008t0020g0085 a0002c0009t0002g0063 a0002c0009t0006g0109 a0002c0010t0004g0082 a0002c0010t0004g0105 a0002c0010t0007g0028 a0002c0010t0007g0032 a0002c0011t0002g0016 a0002c0016t0027g0048 a0002c0016t0044g0134 a0002c0022t0029g0060	48	164	0.2927	49	c.222 others(68): Show c.2229+1246_2229+1247insGGTACACACCTATAGTCCCGGCTACT CAGGAGGCTGAAGTAGGAAGATC	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	15/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98304905	A A	AGGACTAT others(42): Show AGGACTATAGGTGTGTACCGATCTTCCTACTTCAGCCTCCTGAGTAGCCG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	164	0.0061	49	c.222 others(68): Show c.2229+1215_2229+1216insCGGCTACTCAGGAGGCTGAAGTAGGA AGATCGGTACACACCTATAGTCC	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	15/18			chr9	TogoVar
GABRA2_chr4_46238548_46395128	46377768	C C	CGGGAGGG others(42): Show CGGGAGGGAGGTGGGGGGTTCAGCCCCCCACCCGGCCAGCCGCCCCATCA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA19090.hp2 NA18953.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0022 a0001c0001t0010 a0001c0001t0022	a0001c0001t0010g0115 a0001c0001t0022g0088 a0001c0001t0010g0115 a0001c0001t0022g0088	2	258	0.0078	49	c.187 others(66): Show c.187+8305_187+8306insTGATGGGGCGGCTGGCCGGGTGGGGGGC TGAACCCCCCACCTCCCTCCC	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	3/9			chr4	TogoVar
GABRA3_chrX_152161234_152456315	152182674	C C	CTATATAT others(42): Show CTATATATACATATATAGTGTATATATACACTATATATGTATATATAGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0199 a0001c0001t0017g0199	1	204	0.0049	49	c.114 others(68): Show c.1143+7055_1143+7056insCACTATATATACATATATAGTGTATA TATACACTATATATGTATATATA	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GABRG3_chr15_26966181_27546984	27004087	T T	TACCTCCC others(42): Show TACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0017 a0001c0010t0017	a0001c0010t0017g0003 a0001c0010t0017g0003	1	92	0.0109	49	c.203 others(68): Show c.203-22656_203-22655insAGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCC	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GAL3ST2_chr2_241771822_241809287	241805963	T T	TCTGCAGG others(42): Show TCTGCAGGCCACCCTCCCTCCTCCTCAGCCCAGGGACCTCCGCAGGCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	314	0.0032	49	c.17 others(60): Show c.1797_*1798insCTGCAGGCCACCCTCCCTCCTCCTCAGCCCAGGG ACCTCCGCAGGCCAC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1677		chr2	TogoVar
GALK2_chr15_49165247_49336882	49294144	T T	TAAATAAA others(42): Show TAAATAAATAAATAAATAAATAAATAAATAAATAAATAAGACCCTGTCTC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	348	0.0029	49	c.967 others(66): Show c.967+1645_967+1646insGACCCTGTCTCAAATAAATAAATAAATA AATAAATAAATAAATAAATAA	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALM_chr2_38661114_38739765	38686227	T T	TCCTTCCT others(42): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp2 HG02040.hp2 HG00609.hp1 HG00621.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0009 a0001c0001t0001g0159 a0001c0001t0011g0160 a0001c0001t0001g0009 a0001c0001t0001g0159 a0001c0001t0011g0160	3	328	0.0092	49	c.553 others(66): Show c.553-3585_553-3584insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCC	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNS_chr16_88808734_88861947	88826304	C C	CGGTGTAT others(42): Show CGGTGTATGTCTGGGTACAGGCAGGGAACAGGGGTGCGGCGGACAGGGGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01123.hp2 HG01175.hp1 others(18): Show HG00741.hp2 HG01123.hp2 HG01175.hp1 HG01243.hp1 HG01261.hp1 HG01496.hp1 HG01952.hp1 HG02132.hp1 HG02148.hp1 HG02293.hp1 HG02602.hp1 HG02818.hp1 HG03704.hp1 HG04115.hp2 NA18970.hp1 NA18982.hp1 NA18983.hp2 NA18985.hp1 NA18991.hp2 NA19079.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0003 a0002c0026 a0002c0003 a0002c0026	a0002c0003t0001 a0002c0003t0020 a0002c0026t0001 a0002c0003t0001 a0002c0003t0020 a0002c0026t0001	a0002c0003t0001g0002 a0002c0003t0001g0023 a0002c0003t0001g0157 others(17): Show a0002c0003t0001g0002 a0002c0003t0001g0023 a0002c0003t0001g0157 a0002c0003t0001g0161 a0002c0003t0001g0192 a0002c0003t0001g0223 a0002c0003t0001g0228 a0002c0003t0001g0229 a0002c0003t0001g0230 a0002c0003t0001g0252 a0002c0003t0001g0277 a0002c0003t0001g0278 a0002c0003t0001g0284 a0002c0003t0001g0288 a0002c0003t0001g0311 a0002c0003t0001g0344 a0002c0003t0001g0366 a0002c0003t0001g0375 a0002c0003t0020g0345 a0002c0026t0001g0039	21	404	0.0520	49	c.113 others(66): Show c.1139+397_1139+398insACCCCTGTCCGCCGCACCCCTGTTCCCT GCCTGTACCCAGACATACACC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	10/13			chr16	TogoVar
GALNT9_chr12_132191372_132334589	132304556	C C	CACCCTCG others(42): Show CACCCTCGCCTGGGCACACCCTCACCCGGGCACAGCCTCACCCGGGCACA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0116 a0001c0011t0001g0116	1	183	0.0055	49	c.239 others(68): Show c.239-18127_239-18126insTGTGCCCGGGTGAGGCTGTGCCCGGG TGAGGGTGTGCCCAGGCGAGGGT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALP_chr19_56171008_56190775	56176509	G G	GGGGTGAG others(42): Show GGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGGCTGCCAGCTGCAGC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02896.hp1 HG02897.hp2 others(7): Show HG02698.hp2 HG02896.hp1 HG02897.hp2 NA18945.hp1 NA18952.hp1 NA18953.hp2 NA18967.hp2 NA18973.hp1 NA19006.hp1 NA19090.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0003c0004t0003 a0001c0001t0002 a0001c0001t0003 a0003c0004t0003	a0001c0001t0002g0017 a0001c0001t0002g0077 a0001c0001t0002g0078 others(6): Show a0001c0001t0002g0017 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0003g0082 a0003c0004t0003g0146 a0003c0004t0003g0147	10	444	0.0225	49	c.-40 others(64): Show c.-40+450_-40+451insTGAGAGCCTAGGCCAGGAGGGCACAGGGGC GGCTGCCAGCTGCAGCGGG	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GALR1_chr18_77244848_77282900	77259178	G G	GTGGTCAT others(42): Show GTGGTCATAGTGGTGATGGTGGTGGGCGGTAGTGGTGGTGATGATGGTCA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01361.hp2 NA18943.hp1 others(1): Show HG01106.hp1 HG01361.hp2 NA18943.hp1 NA18977.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0003c0007 a0001c0002 a0003c0005 a0003c0007	a0001c0002t0054 a0003c0005t0012 a0003c0005t0110 others(1): Show a0001c0002t0054 a0003c0005t0012 a0003c0005t0110 a0003c0007t0053	a0001c0002t0054g0130 a0003c0005t0012g0045 a0003c0005t0110g0034 others(1): Show a0001c0002t0054g0130 a0003c0005t0012g0045 a0003c0005t0110g0034 a0003c0007t0053g0132	4	366	0.0109	49	c.732 others(66): Show c.732+2959_732+2960insCATAGTGGTGATGGTGGTGGGCGGTAGT GGTGGTGATGATGGTCATGGT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GAN_chr16_81309962_81395809	81390998	T T	TTCCATCG others(42): Show TTCCATCGCTGACTGCCTGAGCCTCTTCCATCGCTGACTGCCTGAGCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(84): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp2 HG01928.hp1 HG01952.hp1 HG01978.hp1 HG01993.hp1 HG02055.hp1 HG02109.hp2 HG02148.hp2 HG02155.hp1 HG02280.hp1 HG02300.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03239.hp2 HG03453.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03927.hp2 HG04115.hp1 NA18906.hp2 NA18947.hp2 NA18956.hp2 NA18960.hp1 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18975.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18986.hp2 NA18993.hp2 NA19004.hp2 NA19005.hp1 NA19054.hp2 NA19056.hp2 NA19066.hp1 NA19067.hp2 NA19077.hp1 NA19083.hp2 NA19086.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(26): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0022 a0001c0001t0026 a0001c0001t0043 a0001c0001t0045 a0001c0001t0048 a0001c0001t0050 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0069 a0001c0001t0072 a0001c0001t0073 a0001c0001t0075 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0118 a0001c0001t0164 a0001c0002t0001 a0001c0002t0153 a0001c0007t0014	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0012 others(79): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0056 a0001c0001t0001g0076 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0289 a0001c0001t0006g0115 a0001c0001t0008g0012 a0001c0001t0008g0079 a0001c0001t0008g0097 a0001c0001t0008g0100 a0001c0001t0008g0102 a0001c0001t0008g0110 a0001c0001t0008g0114 a0001c0001t0008g0121 a0001c0001t0008g0186 a0001c0001t0012g0091 a0001c0001t0012g0092 a0001c0001t0012g0171 a0001c0001t0012g0176 a0001c0001t0012g0308 a0001c0001t0014g0318 a0001c0001t0014g0319 a0001c0001t0016g0123 a0001c0001t0016g0138 a0001c0001t0016g0154 a0001c0001t0022g0321 a0001c0001t0022g0322 a0001c0001t0026g0134 a0001c0001t0026g0139 a0001c0001t0043g0324 a0001c0001t0045g0355 a0001c0001t0048g0320 a0001c0001t0050g0323 a0001c0001t0064g0014 a0001c0001t0065g0014 a0001c0001t0066g0080 a0001c0001t0067g0153 a0001c0001t0069g0101 a0001c0001t0072g0136 a0001c0001t0073g0094 a0001c0001t0075g0013 a0001c0001t0079g0010 a0001c0001t0080g0140 a0001c0001t0081g0010 a0001c0001t0082g0087 a0001c0001t0118g0254 a0001c0001t0164g0035 a0001c0002t0001g0011 a0001c0002t0001g0124 a0001c0002t0001g0149 a0001c0002t0001g0185 a0001c0002t0001g0316 a0001c0002t0153g0163 a0001c0007t0014g0357	87	384	0.2266	49	c.13 others(62): Show c.13402_*13403insTCCATCGCTGACTGCCTGAGCCTCTTCCATCG CTGACTGCCTGAGCCTC	GAN	ENSG00000261609.8	transcript	ENST00000648994.2	protein_coding		190		chr16	TogoVar
GARNL3_chr9_127259774_127398660	127391533	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	300	0.0033	49	c.287 others(66): Show c.2870+767_2870+768insAAAAAAAAAAAAAAAAAAAAATATATAT ATATATATATATATATATATA	GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GARNL3_chr9_127259774_127398660	127391533	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA19077.hp1 NA20129.hp1 NA18942.hp1 NA19077.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0043 a0001c0001t0001g0099 a0001c0001t0001g0100	3	300	0.0100	49	c.287 others(66): Show c.2870+767_2870+768insAAAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATATATATA	GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GATA5_chr20_62458497_62480995	62477098	C C	CTTCCTTC others(42): Show CTTCCTTCCTTCTTTCTTTCCTTCTTTCTTTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0227 a0002c0009t0001g0227	1	382	0.0026	49	c.-11 others(60): Show c.-1191_-1190insAGAAAGAAAGAAAGAAAGAAAAGAAAGAAGGAAA GAAAGAAGGAAGGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1104		chr20	TogoVar
GATD1_chr11_762222_782487	763236	C C	CCCCCCGC others(42): Show CCCCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCCCCGCCCTCACCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0021 a0001c0001t0005g0021	1	430	0.0023	49	c.76 others(60): Show c.7660_*7661insATGGGTGAGGGCGGGGGCGGGTGAGGGCGGGGGC GGGTGAGGGCGGGGG	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		3985		chr11	TogoVar
GCNT4_chr5_75020346_75057558	75027337	A A	ATGTATAT others(42): Show ATGTATATATAATATATATTCATATATATGTATATATAATATATATTCAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0058 a0003c0003t0058	a0003c0003t0058g0090 a0003c0003t0058g0090	1	382	0.0026	49	c.13 others(60): Show c.1338_*1339insATGAATATATATTATATATACATATATATGAATA TATATTATATATACA	GCNT4	ENSG00000176928.7	transcript	ENST00000652361.2	protein_coding	4/4	1338		chr5	TogoVar

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