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
FSTL5_chr4_161378897_162169000	161992864	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00621.hp2 others(10): Show HG00438.hp1 HG00558.hp1 HG00621.hp2 HG01069.hp1 HG01123.hp1 HG02040.hp2 HG02155.hp2 HG02258.hp2 HG03017.hp2 NA18612.hp1 NA19002.hp1 NA19065.hp1 NA19240.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0006c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0008 a0001c0003t0001 a0001c0003t0014 a0002c0004t0001 a0006c0008t0001	a0001c0001t0001g0039 a0001c0001t0001g0073 a0001c0001t0001g0086 others(10): Show a0001c0001t0001g0039 a0001c0001t0001g0073 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0003g0108 a0001c0001t0004g0122 a0001c0002t0001g0031 a0001c0002t0001g0062 a0001c0002t0008g0120 a0001c0003t0001g0032 a0001c0003t0014g0099 a0002c0004t0001g0066 a0006c0008t0001g0030	13	142	0.0916	-40	c.160 others(59): Show c.160+40721_160+40760delCACACACATATATATATATATATATA TATATATATATATA	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	3/15			chr4	TogoVar
FSTL5_chr4_161378897_162169000	161992890	ATATATAT others(33): Show ATATATATGTGTGTGTATATATATATATATATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0105 a0001c0003t0019g0105	1	142	0.0070	-40	c.160 others(59): Show c.160+40695_160+40734delCACACATATATATATATATATATATA CACACACATATATA	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	3/15			chr4	TogoVar
FTCD_chr21_46131779_46160579	46135765	TCCCTCCC others(33): Show TCCCTCCCAGCCTCCCCTCCCCAGCGTTCCCTCCCAGCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	230	0.0044	-40	c.11 others(51): Show c.1182_*1221delGAGGCTGGGAGGGAACGCTGGGGAGGGGAGGCTG GGAGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		1013		chr21	TogoVar
FUCA1_chr1_23840077_23873290	23853041	TCCCGGCC others(33): Show TCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCGTCTCTG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	380	0.0026	-40	c.969 others(57): Show c.969+1279_969+1318delCAGAGACGCTCCTCACTTCCTAGATGGG ATGGCGGCCGGG	FUCA1	ENSG00000179163.12	transcript	ENST00000374479.4	protein_coding	5/7			chr1	TogoVar
FUNDC1_chrX_44518639_44547859	44531275	CACACACA others(33): Show CACACACACACGGCTTTCAGATGAAGATTCATGTTGGCCAG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	313	0.0032	-40	c.262 others(57): Show c.262-3950_262-3911delCTGGCCAACATGAATCTTCATCTGAAAG CCGTGTGTGTGT	FUNDC1	ENSG00000069509.6	transcript	ENST00000378045.5	protein_coding	3/4			chrX	TogoVar
FUT8_chr14_65407730_65749121	65611184	TACACACA others(33): Show TACACACACACACACGCGCGCGCGCGCGCGCGCGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	374	0.0027	-40	c.204 others(57): Show c.204-4779_204-4740delGCGCGCGCGCGCGCGCGCGCGCGCGCAC ACACACACACAC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611209	GCGCGCGC others(33): Show GCGCGCGCGCGCGCGCACACACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01257.hp1 HG01256.hp1 HG01257.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0007 a0002c0003t0001 a0001c0002t0007 a0002c0003t0001	a0001c0002t0007g0299 a0002c0003t0001g0275 a0001c0002t0007g0299 a0002c0003t0001g0275	2	374	0.0054	-40	c.204 others(57): Show c.204-4767_204-4728delGCGCGCGCGCGCGCACACACACACACAC ACACACACACAC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611211	GCGCGCGC others(33): Show GCGCGCGCGCGCGCACACACACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02622.hp1 HG00609.hp1 HG02622.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0002 a0001c0002t0001 a0002c0003t0002	a0001c0002t0001g0103 a0002c0003t0002g0328 a0001c0002t0001g0103 a0002c0003t0002g0328	2	374	0.0054	-40	c.204 others(57): Show c.204-4765_204-4726delGCGCGCGCGCGCACACACACACACACAC ACACACACACAC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611213	GCGCGCGC others(33): Show GCGCGCGCGCGCACACACACACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0212 a0002c0003t0001g0212	1	374	0.0027	-40	c.204 others(57): Show c.204-4763_204-4724delGCGCGCGCGCACACACACACACACACAC ACACACACACAC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611215	GCGCGCGC others(33): Show GCGCGCGCGCACACACACACACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0303 a0001c0002t0020g0303	1	374	0.0027	-40	c.204 others(57): Show c.204-4761_204-4722delGCGCGCGCACACACACACACACACACAC ACACACACACAC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65692675	TGGCTGCC others(33): Show TGGCTGCCAGGCGGAGGGGCTCCTCACTTCTCAGACGGGGC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02572.hp2 HG02809.hp2 HG01243.hp2 HG02572.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0089 a0001c0001t0010g0090 a0001c0001t0010g0091 a0001c0001t0010g0089 a0001c0001t0010g0090 a0001c0001t0010g0091	3	374	0.0080	-40	c.835 others(59): Show c.835+23203_835+23242delAGGCGGAGGGGCTCCTCACTTCTCAG ACGGGGCGGCTGCC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FYB2_chr1_56713789_56824404	56757687	CTTCTTTC others(33): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0354 a0001c0001t0001g0354	1	380	0.0026	-40	c.109 others(58): Show c.1098+989_1098+1028delAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAA	FYB2	ENSG00000187889.13	transcript	ENST00000343433.7	protein_coding	6/19			chr1	TogoVar
FYB2_chr1_56713789_56824404	56757695	TTTCTTTC others(33): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCA	T T	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	2	380	0.0053	-40	c.109 others(58): Show c.1098+981_1098+1020delTGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAA	FYB2	ENSG00000187889.13	transcript	ENST00000343433.7	protein_coding	6/19			chr1	TogoVar
FZD10_chr12_130157464_130170740	130157752	TATATACA others(33): Show TATATACACACACACATACACACACACATATATACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19068.hp2 NA19012.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	2	450	0.0044	-40	c.-51 others(51): Show c.-5190_-5151delATATACACACACACATACACACACACATATATAC ACACAC	FZD10	ENSG00000111432.5	transcript	ENST00000229030.5	protein_coding		4711		chr12	TogoVar
GABBR2_chr9_98283109_98713935	98436368	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAG	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0140 a0001c0002t0001g0140	1	164	0.0061	-40	c.123 others(61): Show c.1236+17573_1236+17612delCTATATATATATATATATATATAT ATATATATATATATAT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	7/18			chr9	TogoVar
GABPB1_chr15_50270389_50360198	50337063	GTATATGT others(33): Show GTATATGTGTGTGTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01069.hp2 HG01074.hp1 others(21): Show HG00544.hp1 HG01069.hp2 HG01074.hp1 HG01099.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01496.hp1 HG02109.hp2 HG02280.hp1 HG02300.hp1 HG02622.hp2 HG02897.hp2 HG03139.hp1 HG03486.hp1 HG03579.hp2 HG03669.hp2 HG04228.hp2 NA18522.hp2 NA18949.hp1 NA19010.hp1 NA19079.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0260 a0001c0001t0001g0283 a0001c0001t0001g0284 others(21): Show a0001c0001t0001g0260 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0003g0266 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0279 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0285 a0001c0001t0004g0288 a0001c0001t0004g0289 a0001c0001t0004g0303 a0001c0001t0004g0308 a0001c0001t0004g0309 a0001c0001t0004g0310	24	366	0.0656	-40	c.-1+ others(57): Show c.-1+17882_-1+17921delTATATATATATATATATATATATATATA CACACACATATA	GABPB1	ENSG00000104064.18	transcript	ENST00000380877.8	protein_coding	1/8			chr15	TogoVar
GABRA2_chr4_46238548_46395128	46377457	GGCAACCG others(33): Show GGCAACCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01071.hp1 HG01361.hp2 others(25): Show HG00140.hp1 HG01071.hp1 HG01361.hp2 HG01433.hp1 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02056.hp2 HG02165.hp1 HG02273.hp1 HG03486.hp1 HG03927.hp2 HG04204.hp1 HG04228.hp2 NA18947.hp1 NA18953.hp2 NA18963.hp1 NA18977.hp2 NA18984.hp1 NA18990.hp1 NA18992.hp1 NA18999.hp1 NA19010.hp2 NA19064.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0032 a0001c0001t0113 a0001c0001t0165 others(15): Show a0001c0001t0032 a0001c0001t0113 a0001c0001t0165 a0001c0001t0170 a0001c0002t0003 a0001c0002t0004 a0001c0002t0012 a0001c0002t0014 a0001c0002t0036 a0001c0002t0038 a0001c0002t0040 a0001c0002t0162 a0001c0002t0167 a0001c0002t0181 a0001c0002t0190 a0001c0002t0191 a0001c0002t0193 a0001c0002t0195	a0001c0001t0032g0174 a0001c0001t0113g0125 a0001c0001t0165g0199 others(25): Show a0001c0001t0032g0174 a0001c0001t0113g0125 a0001c0001t0165g0199 a0001c0001t0170g0218 a0001c0002t0003g0214 a0001c0002t0003g0215 a0001c0002t0003g0216 a0001c0002t0003g0217 a0001c0002t0004g0241 a0001c0002t0004g0242 a0001c0002t0004g0243 a0001c0002t0012g0201 a0001c0002t0012g0205 a0001c0002t0014g0223 a0001c0002t0014g0228 a0001c0002t0014g0229 a0001c0002t0036g0198 a0001c0002t0038g0206 a0001c0002t0038g0207 a0001c0002t0040g0234 a0001c0002t0040g0235 a0001c0002t0162g0191 a0001c0002t0167g0197 a0001c0002t0181g0233 a0001c0002t0190g0248 a0001c0002t0191g0247 a0001c0002t0193g0250 a0001c0002t0195g0253	28	258	0.1085	-40	c.187 others(57): Show c.187+8577_187+8616delTGGGCGGAGGGGCTCCTCACTTCTCAGA CGGGGCGGTTGC	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	3/9			chr4	TogoVar
GABRA3_chrX_152161234_152456315	152286094	AATAAGTT others(33): Show AATAAGTTATATACTTATATACTATAAGTATAGTATAGTAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01070.hp2 HG01175.hp2 others(22): Show HG00642.hp1 HG01070.hp2 HG01175.hp2 HG01496.hp2 HG01891.hp1 HG02080.hp1 HG02109.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02723.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03239.hp2 HG03540.hp2 HG03710.hp1 HG03942.hp1 NA18957.hp2 NA18967.hp1 NA18975.hp2 NA19043.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009	a0001c0001t0001g0101 a0001c0001t0001g0109 a0001c0001t0001g0114 others(22): Show a0001c0001t0001g0101 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0151 a0001c0001t0001g0171 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0002g0002 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0056 a0001c0001t0002g0081 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0003g0129 a0001c0001t0008g0058 a0001c0001t0009g0043 a0001c0001t0009g0091	25	204	0.1226	-40	c.263 others(57): Show c.263-1399_263-1360delATACTATACTATACTTATAGTATATAAG TATATAACTTAT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	3/9			chrX	TogoVar
GABRB1_chr4_47026567_47431447	47195433	TAGATAGA others(33): Show TAGATAGATAGATGATAGATAGATTAGATGATAGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0013 a0001c0001t0007g0013	1	158	0.0063	-40	c.461 others(59): Show c.461+33965_461+34004delAGATAGATAGATGATAGATAGATTAG ATGATAGATAGATA	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	4/8			chr4	TogoVar
GABRB1_chr4_47026567_47431447	47195441	TAGATGAT others(33): Show TAGATGATAGATAGATTAGATGATAGATAGATAGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG01255.hp2 others(4): Show HG00280.hp1 HG00438.hp1 HG01255.hp2 HG02040.hp1 HG02056.hp2 HG02572.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0156 others(4): Show a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0156 a0001c0001t0002g0077 a0001c0001t0002g0097 a0001c0001t0004g0082 a0001c0001t0004g0102	7	158	0.0443	-40	c.461 others(59): Show c.461+33973_461+34012delAGATGATAGATAGATTAGATGATAGA TAGATAGATAGATA	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	4/8			chr4	TogoVar
GABRB1_chr4_47026567_47431447	47195445	TGATAGAT others(33): Show TGATAGATAGATTAGATGATAGATAGATAGATAGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	158	0.0063	-40	c.461 others(59): Show c.461+33988_461+34027delTAGATGATAGATAGATAGATAGATAG ATAGATAGATAGAT	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB3_chr15_26538552_26778066	26764165	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0171 a0001c0001t0013g0171	1	204	0.0049	-40	c.240 others(57): Show c.240+8197_240+8236delATATATATATATATATATATATATATTT TTTTTTTTTTTT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26764177	AAAATATA others(33): Show AAAATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0009	1	204	0.0049	-40	c.240 others(57): Show c.240+8185_240+8224delATATATATATATATATATATATATATAT ATATATATATTT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26764179	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02809.hp1 HG02970.hp2 HG01257.hp1 HG02809.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010	a0001c0001t0002g0074 a0001c0001t0006g0076 a0001c0001t0010g0073 a0001c0001t0002g0074 a0001c0001t0006g0076 a0001c0001t0010g0073	3	204	0.0147	-40	c.240 others(57): Show c.240+8183_240+8222delATATATATATATATATATATATATATAT ATATATATATAT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GAK_chr4_844277_937316	901342	AGGGCACA others(33): Show AGGGCACACGTGGAGAGCCACGGCCTTGGGCCTCCCACCCG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03486.hp2 HG03195.hp1 HG03486.hp2	a0001 a0014 a0001 a0014	a0001c0033 a0014c0032 a0001c0033 a0014c0032	a0001c0033t0001 a0014c0032t0001 a0001c0033t0001 a0014c0032t0001	a0001c0033t0001g0053 a0014c0032t0001g0052 a0001c0033t0001g0053 a0014c0032t0001g0052	2	390	0.0051	-40	c.526 others(57): Show c.526-3224_526-3185delCGGGTGGGAGGCCCAAGGCCGTGGCTCT CCACGTGTGCCC	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	5/27			chr4	TogoVar
GAL3ST2_chr2_241771822_241809287	241805252	TCCCCCCT others(33): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG03942.hp2 HG02132.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0218 a0001c0001t0002g0001 a0001c0001t0001g0218 a0001c0001t0002g0001	2	314	0.0064	-40	c.10 others(51): Show c.1087_*1126delCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		966		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805330	TCCCCCCT others(33): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	314	0.0032	-40	c.11 others(51): Show c.1165_*1204delCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT TCCCTC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1044		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806284	GACCTCCG others(33): Show GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 NA18939.hp2 HG03579.hp2 NA18939.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0163 a0002c0002t0002g0020 a0002c0002t0002g0163	2	314	0.0064	-40	c.21 others(51): Show c.2119_*2158delACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGGA	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1998		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807378	TCCCCCCT others(33): Show TCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG02630.hp1 HG03195.hp2 others(5): Show HG00735.hp2 HG02630.hp1 HG03195.hp2 HG03942.hp2 NA18947.hp1 NA18948.hp1 NA18971.hp2 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0205 a0001c0001t0001g0218 a0001c0001t0001g0222 others(5): Show a0001c0001t0001g0205 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0002g0180 a0002c0002t0001g0097 a0002c0002t0001g0102 a0002c0002t0002g0137 a0002c0002t0002g0152	8	314	0.0255	-40	c.32 others(51): Show c.3213_*3252delCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCT TCCCTC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3092		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807697	TCCCCCCT others(33): Show TCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 NA18943.hp1 HG03017.hp1 NA18943.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0002g0177 a0003c0003t0001g0067 a0001c0001t0002g0177 a0003c0003t0001g0067	2	314	0.0064	-40	c.35 others(51): Show c.3532_*3571delCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCT TCCCTC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3411		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807736	TCCCCCCT others(33): Show TCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG06807.hp2 HG02055.hp2 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0011 a0001c0001 a0003c0011	a0001c0001t0001 a0003c0011t0001 a0001c0001t0001 a0003c0011t0001	a0001c0001t0001g0026 a0003c0011t0001g0118 a0001c0001t0001g0026 a0003c0011t0001g0118	2	314	0.0064	-40	c.35 others(51): Show c.3571_*3610delCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCT TCCCTC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3450		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807992	AGGGACCT others(33): Show AGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	314	0.0032	-40	c.38 others(51): Show c.3827_*3866delGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCA GCCCAG	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3706		chr2	TogoVar
GALNS_chr16_88808734_88861947	88816299	AGGACCCA others(33): Show AGGACCCAGCAGCACGGAGTGGGATTGGGTGTGGAAGGCAG	A A	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	404	0.0025	-40	c.148 others(59): Show c.1482+1668_1482+1707delCTGCCTTCCACACCCAATCCCACTCC GTGCTGCTGGGTCC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	13/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88823657	CCGGGGAC others(33): Show CCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATG	C C	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0045 a0001c0004t0001g0045	1	404	0.0025	-40	c.124 others(57): Show c.1243-987_1243-948delCATTGCCGCCTGCGAGGGCCGTCCTGGG CATCGGTCCCCG	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	11/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88835925	ACGTCCCA others(33): Show ACGTCCCACGGGGCGAGGTTGGTGCGGTCCCCGTCCCCACG	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18953.hp2 NA18956.hp2 others(1): Show HG02165.hp1 NA18953.hp2 NA18956.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0218 others(1): Show a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0218 a0001c0001t0001g0221	4	404	0.0099	-40	c.634 others(54): Show c.634-116_634-77delCGTGGGGACGGGGACCGCACCAACCTCGCCC CGTGGGACG	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	6/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88859821	TGCTGAGA others(33): Show TGCTGAGAAACTAAAAATCTGGCAGTGGCTGTGTGTATGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0311 a0002c0003t0001g0311	1	404	0.0025	-40	c.-29 others(51): Show c.-2984_-2945delCACATACACACAGCCACTGCCAGATTTTTAGTTT CTCAGC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding		2875		chr16	TogoVar
GALNT11_chr7_152020674_152127340	152113681	CTCTATTG others(33): Show CTCTATTGTGACGCCTGCAAAAGTTGGCTTTCTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0257 a0004c0005t0005g0257	1	284	0.0035	-40	c.123 others(57): Show c.1233+285_1233+324delCTATTGTGACGCCTGCAAAAGTTGGCTT TCTTTTTTTTTT	GALNT11	ENSG00000178234.13	transcript	ENST00000430044.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT13_chr2_153866922_154458979	154110312	TATATATA others(33): Show TATATATATATATATATATATATATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0204 a0001c0001t0004g0204	1	214	0.0047	-40	c.143 others(59): Show c.143-30023_143-29984delTATATATATATATATATATATATAGA GAGAGAGAGAGAGA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154110316	TATATATA others(33): Show TATATATATATATATATATATAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0205 a0001c0001t0010g0205	1	214	0.0047	-40	c.143 others(59): Show c.143-30019_143-29980delTATATATATATATATATATAGAGAGA GAGAGAGAGAGAGA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT16_chr14_69255158_69359466	69322962	GTGTGTGT others(33): Show GTGTGTGTGTGTGTGTGTGTGCGCGCGCACGCGCGCACGCA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18997.hp1 NA19000.hp1 others(2): Show HG03017.hp2 NA18997.hp1 NA19000.hp1 NA19010.hp1 NA19058.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0006 a0001c0001 a0002c0002 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0004c0006t0003	a0001c0001t0001g0129 a0001c0001t0002g0109 a0002c0002t0001g0100 others(2): Show a0001c0001t0001g0129 a0001c0001t0002g0109 a0002c0002t0001g0100 a0002c0002t0001g0239 a0004c0006t0003g0222	5	306	0.0163	-40	c.336 others(57): Show c.336-1727_336-1688delTGTGTGTGTGTGTGTGTGCGCGCGCACG CGCGCACGCATG	GALNT16	ENSG00000100626.17	transcript	ENST00000448469.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
GALNT7_chr4_173163811_173328967	173183834	CTCCCAGA others(33): Show CTCCCAGACGGGGCGGCTGCCGGGCGGAGACGCTCATCACT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03516.hp1 HG01891.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0173 a0001c0002t0001g0174	2	266	0.0075	-40	c.126 others(59): Show c.126+14897_126+14936delCGGAGACGCTCATCACTTCCCAGACG GGGCGGCTGCCGGG	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNT9_chr12_132191372_132334589	132192942	CGTCTCGG others(33): Show CGTCTCGGTCGCGTCCGTCGGACTGGGGAGGTGCTCTGCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0148 a0001c0017t0001g0148	1	183	0.0055	-40	c.41 others(51): Show c.4125_*4164delACGCAGAGCACCTCCCCAGTCCGACGGACGCGAC CGAGAC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding		3429		chr12	TogoVar
GALNT9_chr12_132191372_132334589	132193054	GCTCTGCG others(33): Show GCTCTGCGTGTCTCGGTCGCGTCCGTCGGACTGGGGAGGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(98): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG01070.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01361.hp1 HG01433.hp1 HG01928.hp1 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02165.hp1 HG02280.hp2 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp2 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03834.hp2 HG03942.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18971.hp2 NA18980.hp1 NA18980.hp2 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19063.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19080.hp2 NA19091.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0005 others(14): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0008 a0001c0012 a0001c0013 a0001c0018 a0001c0021 a0001c0022 a0001c0028 a0001c0034 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0005c0023	a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 others(19): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 a0001c0002t0001 a0001c0002t0005 a0001c0002t0013 a0001c0005t0001 a0001c0007t0001 a0001c0007t0010 a0001c0008t0002 a0001c0012t0002 a0001c0013t0004 a0001c0018t0001 a0001c0021t0004 a0001c0022t0001 a0001c0028t0001 a0001c0034t0004 a0001c0038t0001 a0001c0039t0006 a0001c0040t0007 a0001c0041t0015 a0005c0023t0005	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0017 others(98): Show a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0008g0003 a0001c0001t0011g0050 a0001c0002t0001g0004 a0001c0002t0001g0022 a0001c0002t0001g0025 a0001c0002t0001g0034 a0001c0002t0001g0053 a0001c0002t0001g0058 a0001c0002t0001g0063 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0105 a0001c0002t0001g0130 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0141 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0163 a0001c0002t0005g0066 a0001c0002t0013g0021 a0001c0005t0001g0008 a0001c0005t0001g0018 a0001c0005t0001g0026 a0001c0005t0001g0037 a0001c0007t0001g0104 a0001c0007t0001g0138 a0001c0007t0001g0159 a0001c0007t0010g0108 a0001c0008t0002g0170 a0001c0008t0002g0171 a0001c0008t0002g0172 a0001c0008t0002g0173 a0001c0008t0002g0176 a0001c0008t0002g0182 a0001c0012t0002g0179 a0001c0012t0002g0180 a0001c0012t0002g0181 a0001c0012t0002g0183 a0001c0013t0004g0036 a0001c0013t0004g0095 a0001c0013t0004g0124 a0001c0018t0001g0039 a0001c0021t0004g0155 a0001c0022t0001g0120 a0001c0028t0001g0144 a0001c0034t0004g0158 a0001c0038t0001g0046 a0001c0039t0006g0001 a0001c0040t0007g0002 a0001c0041t0015g0178 a0005c0023t0005g0028	101	183	0.5519	-40	c.40 others(51): Show c.4013_*4052delAACCTCCCCAGTCCGACGGACGCGACCGAGACAC GCAGAG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding		3317		chr12	TogoVar
GALNT9_chr12_132191372_132334589	132212158	ACGACACG others(33): Show ACGACACGGAAACCCCACCCGGGTCTGCAGCCTTCAGACCT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG01928.hp1 others(6): Show HG00408.hp1 HG00408.hp2 HG01928.hp1 HG02027.hp1 HG02683.hp1 HG02698.hp1 NA18952.hp2 NA18964.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0013 others(3): Show a0001c0001 a0001c0011 a0001c0013 a0001c0020 a0001c0034 a0001c0039	a0001c0001t0001 a0001c0011t0001 a0001c0013t0004 others(3): Show a0001c0001t0001 a0001c0011t0001 a0001c0013t0004 a0001c0020t0001 a0001c0034t0004 a0001c0039t0006	a0001c0001t0001g0102 a0001c0011t0001g0057 a0001c0011t0001g0065 others(6): Show a0001c0001t0001g0102 a0001c0011t0001g0057 a0001c0011t0001g0065 a0001c0011t0001g0129 a0001c0013t0004g0095 a0001c0013t0004g0124 a0001c0020t0001g0115 a0001c0034t0004g0158 a0001c0039t0006g0001	9	183	0.0492	-40	c.107 others(59): Show c.1078-8508_1078-8469delAGGTCTGAAGGCTGCAGACCCGGGTG GGGTTTCCGTGTCG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132212190	TTCAGACC others(33): Show TTCAGACCTCGACACGGAAACCCCACCCGGGTCTGCAGCCC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02109.hp1 HG02257.hp1 others(4): Show HG01167.hp1 HG02109.hp1 HG02257.hp1 HG02717.hp2 HG02965.hp1 HG02976.hp1 HG03453.hp1	a0001 a0001	a0001c0014 a0001c0015 a0001c0019 others(2): Show a0001c0014 a0001c0015 a0001c0019 a0001c0029 a0001c0036	a0001c0014t0003 a0001c0015t0001 a0001c0019t0003 others(2): Show a0001c0014t0003 a0001c0015t0001 a0001c0019t0003 a0001c0029t0003 a0001c0036t0003	a0001c0014t0003g0074 a0001c0014t0003g0146 a0001c0014t0003g0153 others(4): Show a0001c0014t0003g0074 a0001c0014t0003g0146 a0001c0014t0003g0153 a0001c0015t0001g0067 a0001c0019t0003g0145 a0001c0029t0003g0107 a0001c0036t0003g0055	7	183	0.0383	-40	c.107 others(59): Show c.1078-8540_1078-8501delGGGCTGCAGACCCGGGTGGGGTTTCC GTGTCGAGGTCTGA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132279947	AATGCCCA others(33): Show AATGCCCAGTGTCTGCTAGGTCTCCTGGATCCACTTCCTGG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00733.hp1 HG01109.hp1 others(27): Show HG00673.hp1 HG00733.hp1 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02280.hp1 HG02280.hp2 HG02717.hp2 HG02809.hp1 HG02895.hp2 HG02976.hp2 HG03209.hp1 HG03453.hp1 HG03486.hp1 HG03492.hp2 HG03579.hp1 HG03942.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18945.hp1 NA18953.hp1 NA18966.hp1 NA19056.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0001c0010 a0001c0014 a0001c0017 a0001c0018 a0001c0019 a0001c0025 a0001c0026 a0001c0029 a0001c0041	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(13): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0007t0001 a0001c0007t0010 a0001c0009t0002 a0001c0010t0001 a0001c0014t0003 a0001c0017t0001 a0001c0018t0001 a0001c0019t0003 a0001c0025t0012 a0001c0026t0014 a0001c0029t0003 a0001c0041t0015	a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0072 others(27): Show a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0072 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0001g0130 a0001c0002t0001g0151 a0001c0003t0001g0128 a0001c0004t0001g0121 a0001c0007t0001g0015 a0001c0007t0010g0108 a0001c0009t0002g0168 a0001c0009t0002g0174 a0001c0009t0002g0177 a0001c0010t0001g0085 a0001c0010t0001g0086 a0001c0010t0001g0087 a0001c0010t0001g0089 a0001c0014t0003g0146 a0001c0017t0001g0049 a0001c0017t0001g0148 a0001c0018t0001g0047 a0001c0019t0003g0145 a0001c0025t0012g0048 a0001c0026t0014g0052 a0001c0029t0003g0107 a0001c0041t0015g0178	30	183	0.1639	-40	c.419 others(57): Show c.419+6263_419+6302delCCAGGAAGTGGATCCAGGAGACCTAGCA GACACTGGGCAT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	2/10			chr12	TogoVar
GALNTL5_chr7_151951446_152024929	151981567	TTCCTTCC others(33): Show TTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18747.hp1 NA18957.hp2 others(1): Show HG03453.hp2 NA18747.hp1 NA18957.hp2 NA19058.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0002 a0001c0001t0001 a0004c0004t0002	a0001c0001t0001g0005 a0001c0001t0001g0356 a0004c0004t0002g0142 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0356 a0004c0004t0002g0142 a0004c0004t0002g0183	4	384	0.0104	-40	c.369 others(57): Show c.369-1395_369-1356delCTCCTTCCTTCCTTCCCTCCTTCCTTCC TTCCTTCCTTCC	GALNTL5	ENSG00000106648.15	transcript	ENST00000392800.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GANAB_chr11_62619829_62651613	62638580	GAGGAAGG others(33): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	308	0.0033	-40	c.380 others(55): Show c.380+363_380+402delTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCT	GANAB	ENSG00000089597.18	transcript	ENST00000356638.8	protein_coding	4/23			chr11	TogoVar
GAREM1_chr18_32258522_32475882	32441306	AAGTCCAA others(33): Show AAGTCCAACAACAACGTCTAGCATAAAATGGGAACAGCAAC	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18522.hp2 HG02976.hp2 NA18522.hp2	a0006 a0006	a0006c0022 a0006c0030 a0006c0022 a0006c0030	a0006c0022t0020 a0006c0030t0020 a0006c0022t0020 a0006c0030t0020	a0006c0022t0020g0031 a0006c0030t0020g0162 a0006c0022t0020g0031 a0006c0030t0020g0162	2	192	0.0104	-40	c.121 others(59): Show c.121+28962_121+29001delGTTGCTGTTCCCATTTTATGCTAGAC GTTGTTGTTGGACT	GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding	1/5			chr18	TogoVar
GARIN1A_chr7_128667292_128692877	128689487	ATCTGAGA others(33): Show ATCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCCGCCCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00597.hp1 others(38): Show HG00140.hp1 HG00323.hp2 HG00597.hp1 HG00639.hp1 HG01074.hp2 HG01167.hp1 HG01169.hp2 HG01257.hp2 HG01258.hp1 HG01884.hp2 HG01943.hp1 HG02055.hp1 HG02258.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02723.hp2 HG02895.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03239.hp1 HG03654.hp1 HG03942.hp1 NA18522.hp2 NA18906.hp1 NA18947.hp1 NA18966.hp2 NA18979.hp1 NA18983.hp1 NA18986.hp1 NA19001.hp2 NA19002.hp2 NA19009.hp2 NA19010.hp1 NA19062.hp1 NA19081.hp1 NA20129.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0018 a0001c0001t0039 a0004c0004t0007 others(7): Show a0001c0001t0018 a0001c0001t0039 a0004c0004t0007 a0004c0004t0009 a0004c0004t0020 a0004c0004t0025 a0004c0004t0048 a0004c0004t0050 a0004c0004t0051 a0004c0004t0052	a0001c0001t0018g0022 a0001c0001t0018g0164 a0001c0001t0039g0022 others(21): Show a0001c0001t0018g0022 a0001c0001t0018g0164 a0001c0001t0039g0022 a0004c0004t0007g0006 a0004c0004t0007g0014 a0004c0004t0007g0018 a0004c0004t0007g0030 a0004c0004t0007g0052 a0004c0004t0007g0055 a0004c0004t0007g0057 a0004c0004t0009g0006 a0004c0004t0009g0014 a0004c0004t0009g0051 a0004c0004t0009g0053 a0004c0004t0009g0054 a0004c0004t0009g0122 a0004c0004t0020g0006 a0004c0004t0020g0018 a0004c0004t0020g0031 a0004c0004t0025g0006 a0004c0004t0048g0018 a0004c0004t0050g0006 a0004c0004t0051g0056 a0004c0004t0052g0031	41	428	0.0958	-40	c.63 others(51): Show c.6329_*6368delTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCC GCCCCG	GARIN1A	ENSG00000205085.13	transcript	ENST00000682356.1	protein_coding		1611		chr7	TogoVar

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