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 per page.

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
GIGYF2_chr2_232692331_232865605	232836305	TATATATA others(19): Show TATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01255.hp2 HG02683.hp2 others(3): Show HG00673.hp2 HG01255.hp2 HG02683.hp2 HG03017.hp1 NA18970.hp2 NA19003.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0002c0020	a0001c0002t0005 a0001c0003t0003 a0002c0001t0004 others(2): Show a0001c0002t0005 a0001c0003t0003 a0002c0001t0004 a0002c0001t0029 a0002c0020t0004	a0001c0002t0005g0299 a0001c0003t0003g0143 a0002c0001t0004g0039 others(3): Show a0001c0002t0005g0299 a0001c0003t0003g0143 a0002c0001t0004g0039 a0002c0001t0004g0091 a0002c0001t0029g0075 a0002c0020t0004g0105	6	376	0.0160	-26	c.276 others(45): Show c.2766+3222_2766+3247delTATATATATATATATACATATATATA	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	22/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
GIMAP4_chr7_150562390_150578953	150564854	CATGTAGT others(19): Show CATGTAGTTAATTTTAAAAACTGAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	454	0.0022	-26	c.-25 others(37): Show c.-2597_-2572delATGTAGTTAATTTTAAAAACTGAAAA	GIMAP4	ENSG00000133574.10	transcript	ENST00000255945.4	protein_coding		2535		chr7	TogoVar
GINM1_chr6_149561375_149596748	149562292	ATATATAT others(19): Show ATATATATATATATATATATATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	380	0.0026	-26	c.-41 others(37): Show c.-4122_-4097delTATATATATATATATATATATATATT	GINM1	ENSG00000055211.14	transcript	ENST00000367419.10	protein_coding		4082		chr6	TogoVar
GINM1_chr6_149561375_149596748	149570134	TTTTATAT others(19): Show TTTTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	380	0.0026	-26	c.121 others(43): Show c.121-2149_121-2124delTTATATATATATATATATATATATAT	GINM1	ENSG00000055211.14	transcript	ENST00000367419.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
GINS2_chr16_85671198_85693954	85673531	CATTAAAA others(19): Show CATTAAAATATTGAAGTGTTTTTAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0079 a0001c0003t0007g0079	1	470	0.0021	-26	c.46 others(37): Show c.4655_*4680delTTTTAAAAACACTTCAATATTTTAAT	GINS2	ENSG00000131153.9	transcript	ENST00000253462.8	protein_coding		2666		chr16	TogoVar
GINS3_chr16_58387471_58411147	58410992	CATAGCTC others(19): Show CATAGCTCTGAAAATAGTGCCTGGGAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0088 a0001c0001t0003g0088	1	434	0.0023	-26	c.62 others(37): Show c.6264_*6289delATAGCTCTGAAAATAGTGCCTGGGAA	GINS3	ENSG00000181938.14	transcript	ENST00000318129.6	protein_coding		4846		chr16	TogoVar
GJA9_chr1_38869069_38886587	38882299	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	444	0.0023	-26	c.-98 others(35): Show c.-989_-964delATATATATATATATATATATATATAT	GJA9	ENSG00000131233.10	transcript	ENST00000357771.5	protein_coding		713		chr1	TogoVar
GJA9_chr1_38869069_38886587	38882329	TATATATA others(19): Show TATATATATATATATATATATATTTAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	444	0.0023	-26	c.-10 others(36): Show c.-1019_-994delGTAAATATATATATATATATATATAT	GJA9	ENSG00000131233.10	transcript	ENST00000357771.5	protein_coding		743		chr1	TogoVar
GKAP1_chr9_83734425_83822769	83779527	GTATATGT others(19): Show GTATATGTGTATATATATACACGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0201 a0001c0001t0004g0201	1	336	0.0030	-26	c.585 others(41): Show c.585+829_585+854delTACACGTGTATATATATACACATATA	GKAP1	ENSG00000165113.13	transcript	ENST00000376371.7	protein_coding	7/12			chr9	TogoVar
GK_chrX_30648423_30736462	30662829	CTCTCTTT others(19): Show CTCTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	286	0.0035	-26	c.79- others(41): Show c.79-2678_79-2653delCTTTCTTTCTTTCTTTCTTTCTTTCT	GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
GK_chrX_30648423_30736462	30662833	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02897.hp1 HG03195.hp1 others(1): Show HG02886.hp2 HG02897.hp1 HG03195.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0023 a0001c0001t0004 a0001c0001t0005 a0001c0001t0023	a0001c0001t0004g0174 a0001c0001t0004g0177 a0001c0001t0005g0022 others(1): Show a0001c0001t0004g0174 a0001c0001t0004g0177 a0001c0001t0005g0022 a0001c0001t0023g0173	4	286	0.0140	-26	c.79- others(41): Show c.79-2676_79-2651delTTCTTTCTTTCTTTCTTTCTTTCTTT	GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
GK_chrX_30648423_30736462	30662843	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp2 HG02559.hp1 others(8): Show HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02738.hp1 HG03209.hp1 HG03239.hp1 HG03486.hp2 HG03942.hp1 NA18945.hp1 NA18979.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0012	a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0052 others(8): Show a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0204 a0001c0001t0002g0089 a0001c0001t0005g0105 a0001c0001t0005g0107 a0001c0001t0012g0110	11	286	0.0385	-26	c.79- others(41): Show c.79-2642_79-2617delCTCTTTCTTTCTTTCTTTCTTTCTTT	GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
GK_chrX_30648423_30736462	30692068	TTTTCTGT others(19): Show TTTTCTGTTTTTGTTTTTTGTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(71): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01168.hp2 HG01169.hp2 HG01258.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01952.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02129.hp1 HG02273.hp1 HG02280.hp2 HG02602.hp1 HG02683.hp2 HG02895.hp1 HG02897.hp2 HG03017.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03834.hp2 HG03927.hp2 HG04204.hp1 NA18612.hp1 NA18940.hp1 NA18942.hp2 NA18943.hp1 NA18946.hp2 NA18948.hp1 NA18952.hp1 NA18954.hp1 NA18959.hp1 NA18967.hp1 NA18977.hp1 NA18979.hp2 NA18988.hp1 NA18989.hp1 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19006.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19056.hp1 NA19062.hp1 NA19065.hp1 NA19075.hp1 NA19077.hp2 NA19079.hp1 NA19082.hp1 NA19088.hp1 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0021	a0001c0001t0001g0213 a0001c0001t0001g0265 a0001c0001t0002g0005 others(70): Show a0001c0001t0001g0213 a0001c0001t0001g0265 a0001c0001t0002g0005 a0001c0001t0002g0089 a0001c0001t0002g0146 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0016g0272 a0001c0001t0021g0222	74	286	0.2587	-26	c.414 others(41): Show c.414+872_414+897delTCTGTTTTTGTTTTTTGTGTTTTGTT	GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	5/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLB1L2_chr11_134326988_134381324	134345196	TTCTGTGT others(19): Show TTCTGTGTTCCAGTTCCCATTCTGTAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00438.hp1 others(68): Show HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00673.hp1 HG01074.hp1 HG01074.hp2 HG01109.hp2 HG01192.hp1 HG01243.hp1 HG01433.hp1 HG01891.hp1 HG02080.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02622.hp1 HG02735.hp2 HG02818.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03831.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 NA18939.hp1 NA18943.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18975.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18986.hp1 NA18994.hp2 NA19004.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp2 NA19054.hp2 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp2 NA19070.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp2 NA19091.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0017 a0001c0018 a0001c0026 a0001c0027 a0001c0033	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0002t0002 a0001c0002t0010 a0001c0002t0016 a0001c0003t0001 a0001c0003t0003 a0001c0004t0008 a0001c0005t0010 a0001c0006t0004 a0001c0017t0012 a0001c0018t0009 a0001c0026t0002 a0001c0027t0002 a0001c0033t0002	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 others(63): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0069 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0290 a0001c0001t0003g0008 a0001c0001t0003g0257 a0001c0001t0003g0292 a0001c0001t0004g0220 a0001c0001t0005g0221 a0001c0001t0005g0294 a0001c0001t0011g0091 a0001c0002t0002g0009 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0023 a0001c0002t0002g0039 a0001c0002t0002g0042 a0001c0002t0002g0060 a0001c0002t0002g0066 a0001c0002t0002g0068 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0098 a0001c0002t0002g0128 a0001c0002t0002g0212 a0001c0002t0002g0215 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0225 a0001c0002t0002g0233 a0001c0002t0002g0238 a0001c0002t0002g0251 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0293 a0001c0002t0002g0295 a0001c0002t0010g0023 a0001c0002t0010g0067 a0001c0002t0010g0286 a0001c0002t0016g0291 a0001c0003t0001g0360 a0001c0003t0003g0046 a0001c0004t0008g0033 a0001c0005t0010g0070 a0001c0006t0004g0027 a0001c0006t0004g0367 a0001c0006t0004g0368 a0001c0006t0004g0369 a0001c0006t0004g0370 a0001c0017t0012g0216 a0001c0017t0012g0224 a0001c0018t0009g0045 a0001c0026t0002g0272 a0001c0027t0002g0258 a0001c0033t0002g0283	71	414	0.1715	-26	c.449 others(39): Show c.449+69_449+94delCTGTGTTCCAGTTCCCATTCTGTACT	GLB1L2	ENSG00000149328.16	transcript	ENST00000535456.7	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLB1L3_chr11_134271379_134324564	134277524	AATATGCA others(19): Show AATATGCACAGAACACGTCCTACTAAC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02129.hp1 HG03688.hp1 HG01109.hp2 HG02129.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003	a0001c0001t0002g0109 a0001c0002t0001g0108 a0001c0002t0003g0107 a0001c0001t0002g0109 a0001c0002t0001g0108 a0001c0002t0003g0107	3	422	0.0071	-26	c.150 others(40): Show c.150-122_150-97delTATGCACAGAACACGTCCTACTAACA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLB1_chr3_32991617_33102146	33018285	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0245 a0001c0005t0001g0245	1	394	0.0025	-26	c.134 others(43): Show c.1347+137_1347+162delTTTTTTTTTTTTTTTTTTTTTTTTTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	13/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33059244	TACACACA others(19): Show TACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG00735.hp2 others(42): Show HG00140.hp1 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01256.hp1 HG01258.hp2 HG01515.hp2 HG01517.hp1 HG02145.hp2 HG02148.hp1 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02572.hp2 HG02630.hp1 HG02895.hp1 HG02897.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03239.hp2 HG03490.hp2 HG03579.hp1 HG04115.hp1 HG04184.hp2 NA18943.hp1 NA18946.hp1 NA18959.hp2 NA18980.hp2 NA19002.hp1 NA19010.hp1 NA19011.hp1 NA19060.hp1 NA19062.hp2 NA20129.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0027 others(42): Show a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0002g0022 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0003g0062 a0001c0005t0001g0255	45	394	0.1142	-26	c.553 others(42): Show c.553-1001_553-976delGTGTGTGTGTGTGTGTGTGTGTGTGT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	5/15			chr3	TogoVar
GLCCI1_chr7_7963796_8094080	7981238	ATTTCTTT others(19): Show ATTTCTTTCTTTCTTTCTTTCTCTTTT	A A	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0054 a0001c0002t0054	a0001c0002t0054g0019 a0001c0002t0054g0019	1	416	0.0024	-26	c.457 others(45): Show c.457+11455_457+11480delTTTTTTCTTTCTTTCTTTCTTTCTCT	GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
GLI2_chr2_120730868_120997653	120886185	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp2 HG02257.hp1 others(23): Show HG00639.hp1 HG01109.hp2 HG02257.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02630.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp2 HG04184.hp1 NA18906.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0009 a0016	a0001c0002 a0001c0003 a0001c0007 others(9): Show a0001c0002 a0001c0003 a0001c0007 a0001c0020 a0002c0001 a0002c0004 a0003c0005 a0003c0012 a0004c0008 a0005c0010 a0009c0015 a0016c0030	a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 others(19): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0003t0008 a0001c0003t0010 a0001c0003t0021 a0001c0007t0007 a0001c0020t0007 a0002c0001t0030 a0002c0004t0009 a0002c0004t0013 a0002c0004t0016 a0002c0004t0017 a0003c0005t0010 a0003c0012t0006 a0004c0008t0005 a0004c0008t0011 a0004c0008t0037 a0005c0010t0003 a0009c0015t0022 a0016c0030t0003	a0001c0002t0001g0076 a0001c0002t0005g0078 a0001c0002t0005g0136 others(23): Show a0001c0002t0001g0076 a0001c0002t0005g0078 a0001c0002t0005g0136 a0001c0002t0007g0116 a0001c0002t0007g0156 a0001c0002t0008g0101 a0001c0003t0008g0022 a0001c0003t0010g0106 a0001c0003t0021g0087 a0001c0007t0007g0153 a0001c0020t0007g0154 a0002c0001t0030g0048 a0002c0004t0009g0102 a0002c0004t0009g0139 a0002c0004t0009g0150 a0002c0004t0013g0125 a0002c0004t0016g0127 a0002c0004t0017g0105 a0003c0005t0010g0032 a0003c0012t0006g0080 a0004c0008t0005g0138 a0004c0008t0011g0157 a0004c0008t0037g0054 a0005c0010t0003g0016 a0009c0015t0022g0096 a0016c0030t0003g0128	26	160	0.1625	-26	c.149 others(45): Show c.149-41171_149-41146delGTGTGTGTGTGTGTGTGTGTGCGTGT	GLI2	ENSG00000074047.22	transcript	ENST00000361492.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
GLI2_chr2_120730868_120997653	120886190	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGCGTGTA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0086 a0001c0002t0007g0086	1	160	0.0063	-26	c.149 others(45): Show c.149-41169_149-41144delGTGTGTGTGTGTGTGTGTGCGTGTAT	GLI2	ENSG00000074047.22	transcript	ENST00000361492.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
GLI3_chr7_41955949_42242209	42055065	GTATACAT others(19): Show GTATACATATATATGTATATATACATA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG02965.hp2 others(5): Show HG02055.hp1 HG02258.hp1 HG02965.hp2 HG02976.hp1 HG03139.hp1 HG03453.hp1 HG03579.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0034 a0001c0001t0040	a0001c0001t0001g0103 a0001c0001t0008g0079 a0001c0001t0008g0129 others(5): Show a0001c0001t0001g0103 a0001c0001t0008g0079 a0001c0001t0008g0129 a0001c0001t0012g0156 a0001c0001t0014g0112 a0001c0001t0014g0138 a0001c0001t0034g0136 a0001c0001t0040g0094	8	158	0.0506	-26	c.474 others(43): Show c.474-6395_474-6370delTATGTATATATACATATATATGTATA	GLI3	ENSG00000106571.15	transcript	ENST00000395925.8	protein_coding	4/14			chr7	TogoVar
GLI3_chr7_41955949_42242209	42128285	TATCAACC others(19): Show TATCAACCTATCATGTATTTCTATTGA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	158	0.0063	-26	c.367 others(45): Show c.367+19915_367+19940delTCAATAGAAATACATGATAGGTTGAT	GLI3	ENSG00000106571.15	transcript	ENST00000395925.8	protein_coding	3/14			chr7	TogoVar
GLIS3_chr9_3819127_4305068	3859350	AACACACA others(19): Show AACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02717.hp2 HG01192.hp2 HG02717.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0025 a0001c0001 a0003c0025	a0001c0001t0047 a0003c0025t0051 a0001c0001t0047 a0003c0025t0051	a0001c0001t0047g0049 a0003c0025t0051g0037 a0001c0001t0047g0049 a0003c0025t0051g0037	2	188	0.0106	-26	c.229 others(45): Show c.2298-3192_2298-3167delGTGTGTGTGTGTGTGTGTGTGTGTGT	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	3867715	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGCGTGCGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0049 a0001c0001t0047g0049	1	188	0.0053	-26	c.229 others(47): Show c.2298-11557_2298-11532delCACACACGCACGCACACACACACA CA	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	3976795	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG03239.hp2 HG03688.hp2 others(1): Show HG02080.hp1 HG03239.hp2 HG03688.hp2 NA18963.hp2	a0001 a0002 a0019 a0001 a0002 a0019	a0001c0001 a0002c0002 a0019c0021 a0001c0001 a0002c0002 a0019c0021	a0001c0001t0066 a0001c0001t0086 a0002c0002t0017 others(1): Show a0001c0001t0066 a0001c0001t0086 a0002c0002t0017 a0019c0021t0002	a0001c0001t0066g0165 a0001c0001t0086g0184 a0002c0002t0017g0060 others(1): Show a0001c0001t0066g0165 a0001c0001t0086g0184 a0002c0002t0017g0060 a0019c0021t0002g0153	4	188	0.0213	-26	c.171 others(47): Show c.1711-39632_1711-39607delTTTTTTTTTTTTTTTTTTTTTTTT TT	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	4/10			chr9	TogoVar
GLRA2_chrX_14524536_14736812	14691271	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	232	0.0043	-26	c.108 others(43): Show c.1080+441_1080+466delTGTGTGTGTGTGTGTGTGTGTGTGTG	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLT1D1_chr12_128848478_128989968	128854394	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 NA19240.hp2 HG02896.hp2 HG02897.hp1 NA19240.hp2	a0001 a0005 a0001 a0005	a0001c0008 a0005c0009 a0001c0008 a0005c0009	a0001c0008t0011 a0005c0009t0008 a0001c0008t0011 a0005c0009t0008	a0001c0008t0011g0021 a0001c0008t0011g0022 a0005c0009t0008g0023 a0001c0008t0011g0021 a0001c0008t0011g0022 a0005c0009t0008g0023	3	320	0.0094	-26	c.68+ others(39): Show c.68+764_68+789delGTGTGTGTGTGTGTGTGTGTGTGTGT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128874082	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	1	320	0.0031	-26	c.69- others(41): Show c.69-1828_69-1803delTTCTTTCTTTCTTTCTCTCTCTCTCT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128874086	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0130 a0001c0002t0001g0130	1	320	0.0031	-26	c.69- others(41): Show c.69-1824_69-1799delTTCTTTCTTTCTCTCTCTCTCTCTCT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128874098	TTCTCTCT others(19): Show TTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0059 a0001c0002t0003g0059	1	320	0.0031	-26	c.69- others(41): Show c.69-1812_69-1787delCTCTCTCTCTCTCTCTCTCTCTCTCT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128874118	CTCTCTCT others(19): Show CTCTCTCTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG01069.hp2 others(19): Show HG00323.hp2 HG00639.hp1 HG01069.hp2 HG01981.hp1 HG02015.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02698.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 NA18747.hp1 NA18950.hp2 NA18951.hp2 NA18965.hp2 NA18977.hp1 NA19004.hp1 NA19010.hp2 NA19054.hp1 NA19056.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0004t0001 a0001c0004t0006 a0001c0004t0013	a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0093 others(19): Show a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0134 a0001c0001t0001g0162 a0001c0001t0001g0174 a0001c0001t0001g0189 a0001c0001t0001g0226 a0001c0001t0001g0262 a0001c0001t0001g0297 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0002g0179 a0001c0001t0002g0251 a0001c0001t0002g0287 a0001c0001t0002g0300 a0001c0001t0003g0306 a0001c0001t0015g0239 a0001c0004t0001g0260 a0001c0004t0006g0112 a0001c0004t0013g0270	22	320	0.0688	-26	c.69- others(41): Show c.69-1792_69-1767delCTCTCTTTCTTTCTTTCTTTCTTTCT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128879372	TTTTCTTT others(19): Show TTTTCTTTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02572.hp2 HG03195.hp2 HG01106.hp2 HG02572.hp2 HG03195.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0004 a0002c0003t0005 a0002c0003t0001 a0002c0003t0004 a0002c0003t0005	a0002c0003t0001g0314 a0002c0003t0004g0070 a0002c0003t0005g0156 a0002c0003t0001g0314 a0002c0003t0004g0070 a0002c0003t0005g0156	3	320	0.0094	-26	c.217 others(43): Show c.217+3318_217+3343delTTCTTTCTTTCTTTCTTTCTTTCTTT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128919968	TCTCTCTC others(19): Show TCTCTCTCTCTCTCTCTCTCTCTCCCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02717.hp1 HG06807.hp1 others(1): Show HG00099.hp1 HG02717.hp1 HG06807.hp1 NA18950.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0007 a0001c0001 a0001c0002 a0002c0007	a0001c0001t0001 a0001c0002t0001 a0002c0007t0005 a0001c0001t0001 a0001c0002t0001 a0002c0007t0005	a0001c0001t0001g0094 a0001c0002t0001g0065 a0001c0002t0001g0117 others(1): Show a0001c0001t0001g0094 a0001c0002t0001g0065 a0001c0002t0001g0117 a0002c0007t0005g0213	4	320	0.0125	-26	c.469 others(43): Show c.469+4983_469+5008delTCTCTCTCTCTCTCTCTCTCCCCCTC	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128986961	TAGATATA others(19): Show TAGATATATACACATACATGTGCGTAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02280.hp1 HG02145.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0012 a0001c0001t0001 a0001c0002t0012	a0001c0001t0001g0005 a0001c0002t0012g0095 a0001c0001t0001g0005 a0001c0002t0012g0095	2	320	0.0063	-26	c.38 others(37): Show c.3872_*3897delAGATATATACACATACATGTGCGTAG	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding		1994		chr12	TogoVar
GLT8D2_chr12_103983987_104055187	103990078	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(38): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00735.hp2 HG01070.hp2 HG01081.hp1 HG01109.hp1 HG01192.hp1 HG01257.hp2 HG01358.hp1 HG01433.hp2 HG01928.hp2 HG01993.hp1 HG02055.hp2 HG02074.hp1 HG02630.hp2 HG02738.hp1 HG02738.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03942.hp1 HG04204.hp1 NA18612.hp1 NA19012.hp1 NA19030.hp2 NA19065.hp2 NA19076.hp2 NA19083.hp1 NA19087.hp2 NA19240.hp2 NA20129.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0002c0004 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0007t0002 a0002c0004t0001 a0004c0006t0001	a0001c0001t0001g0027 a0001c0001t0001g0062 a0001c0001t0001g0069 others(38): Show a0001c0001t0001g0027 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0003g0163 a0001c0001t0003g0168 a0001c0001t0003g0171 a0001c0001t0003g0173 a0001c0001t0003g0195 a0001c0001t0003g0198 a0001c0003t0001g0214 a0001c0003t0001g0217 a0001c0003t0001g0218 a0001c0003t0001g0219 a0001c0003t0001g0220 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0223 a0001c0003t0001g0295 a0001c0007t0002g0352 a0002c0004t0001g0266 a0002c0004t0001g0267 a0004c0006t0001g0149	41	416	0.0986	-26	c.881 others(41): Show c.881-527_881-502delATATATATATATATATATATATATAT	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	10/10			chr12	TogoVar
GLUL_chr1_182373098_182396790	182391605	TGGGCGGC others(19): Show TGGGCGGCGCGCCTCGCGGGGTAGCAG	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0087 a0001c0002t0003g0087	1	400	0.0025	-26	c.-14 others(39): Show c.-14+48_-14+73delCTGCTACCCCGCGAGGCGCGCCGCCC	GLUL	ENSG00000135821.19	transcript	ENST00000331872.11	protein_coding	1/6			chr1	TogoVar
GMDS_chr6_1618806_2250605	1747464	ACACACAC others(19): Show ACACACACACGCTCATGCGTGTGCGCG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp1 HG01261.hp1 others(30): Show HG00639.hp2 HG01243.hp1 HG01261.hp1 HG01496.hp2 HG01934.hp1 HG02273.hp2 HG02486.hp2 HG02723.hp2 HG02886.hp1 HG03017.hp1 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03491.hp2 HG03540.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 NA18522.hp1 NA18941.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18970.hp1 NA18998.hp1 NA19009.hp2 NA19010.hp2 NA19079.hp1 NA19240.hp1 NA20300.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006	a0001c0002t0001g0005 a0001c0002t0001g0028 a0001c0002t0001g0032 others(30): Show a0001c0002t0001g0005 a0001c0002t0001g0028 a0001c0002t0001g0032 a0001c0002t0001g0037 a0001c0002t0001g0045 a0001c0002t0001g0054 a0001c0002t0001g0067 a0001c0002t0001g0080 a0001c0002t0001g0086 a0001c0002t0001g0093 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0103 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0129 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0143 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0159 a0001c0002t0001g0162 a0001c0002t0002g0009 a0001c0002t0002g0050 a0001c0002t0002g0111 a0001c0002t0002g0144 a0001c0002t0005g0019 a0001c0002t0006g0166	33	166	0.1988	-26	c.772 others(43): Show c.772-4904_772-4879delCGCGCACACGCATGAGCGTGTGTGTG	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1827328	AGAAAACC others(19): Show AGAAAACCTGTATATACACACGTTTTG	A A	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0111 a0001c0002t0002g0111	1	166	0.0060	-26	c.772 others(45): Show c.772-84768_772-84743delCAAAACGTGTGTATATACAGGTTTTC	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1999959	TTATATAT others(19): Show TTATATATATATTATATATATATTTTA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp1 HG03516.hp1 others(1): Show HG02109.hp2 HG02559.hp1 HG03516.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0058 a0001c0001t0001g0149 a0001c0001t0002g0119 others(1): Show a0001c0001t0001g0058 a0001c0001t0001g0149 a0001c0001t0002g0119 a0001c0002t0001g0046	4	166	0.0241	-26	c.346 others(45): Show c.346-39019_346-38994delTAAAATATATATATAATATATATATA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GNA12_chr7_2723105_2849308	2780051	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0058 a0001c0001t0004g0058	1	322	0.0031	-26	c.525 others(45): Show c.525+14851_525+14876delATATATATATATATATATATATATAT	GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding	2/3			chr7	TogoVar
GNA13_chr17_65004289_65061740	65018092	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0138 a0001c0001t0015g0138	1	180	0.0056	-26	c.561 others(41): Show c.561+135_561+160delTTTTTTTTTTTTTTTTTTTTTTTTTT	GNA13	ENSG00000120063.10	transcript	ENST00000439174.7	protein_coding	3/3			chr17	TogoVar
GNA14_chr9_77418079_77653322	77464331	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0206 a0001c0016t0002g0206	1	240	0.0042	-26	c.310 others(45): Show c.310-29835_310-29810delCACACATATACACACACACACACACA	GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	2/6			chr9	TogoVar
GNA14_chr9_77418079_77653322	77618602	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0125 a0001c0004t0001g0125	1	240	0.0042	-26	c.124 others(45): Show c.124+29042_124+29067delAAAAAAAATATATATATATATATATA	GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	1/6			chr9	TogoVar
GNA14_chr9_77418079_77653322	77623216	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01192.hp2 HG01243.hp2 others(11): Show HG00642.hp2 HG01192.hp2 HG01243.hp2 HG01884.hp1 HG02723.hp2 HG02818.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp2 HG03453.hp2 NA19043.hp2 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0021 a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 a0005c0013t0001	a0001c0001t0001g0093 a0001c0001t0002g0223 a0001c0001t0014g0225 others(11): Show a0001c0001t0001g0093 a0001c0001t0002g0223 a0001c0001t0014g0225 a0001c0001t0021g0228 a0001c0002t0001g0168 a0001c0002t0001g0170 a0001c0002t0002g0221 a0001c0002t0002g0224 a0001c0002t0002g0229 a0001c0002t0002g0232 a0001c0002t0002g0234 a0001c0002t0002g0239 a0001c0004t0002g0219 a0005c0013t0001g0085	14	240	0.0583	-26	c.124 others(45): Show c.124+24428_124+24453delTTTTTTTTTTTTTTTTTTTTTTTTTT	GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	1/6			chr9	TogoVar
GNA14_chr9_77418079_77653322	77641085	GGGAGGGG others(19): Show GGGAGGGGAGGGGGGGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0125 a0001c0004t0001g0125	1	240	0.0042	-26	c.124 others(43): Show c.124+6559_124+6584delTTCCTTCCTTCCCCCCCCTCCCCTCC	GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	1/6			chr9	TogoVar
GNA14_chr9_77418079_77653322	77641109	GAAGGAAG others(19): Show GAAGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0161 a0001c0001t0003g0161	1	240	0.0042	-26	c.124 others(43): Show c.124+6535_124+6560delTTCCTTCCTTCCTTCCTTCCTTCCTT	GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	1/6			chr9	TogoVar
GNAO1_chr16_56186489_56362444	56277776	TACACACA others(19): Show TACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02630.hp1 HG02723.hp2 others(9): Show HG00099.hp1 HG02630.hp1 HG02723.hp2 HG02970.hp1 HG03098.hp1 HG03130.hp1 HG04199.hp1 NA18981.hp2 NA19085.hp2 NA19091.hp2 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0013	a0001c0001t0001g0202 a0001c0001t0001g0295 a0001c0002t0001g0236 others(9): Show a0001c0001t0001g0202 a0001c0001t0001g0295 a0001c0002t0001g0236 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0294 a0001c0002t0002g0066 a0001c0002t0002g0175 a0001c0002t0002g0292 a0001c0002t0003g0109 a0001c0002t0013g0293	12	298	0.0403	-26	c.303 others(43): Show c.303+1745_303+1770delACACACACACACACACACACACACAC	GNAO1	ENSG00000087258.16	transcript	ENST00000262493.12	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
GNAQ_chr9_77711097_78036811	77717764	TCAGATTC others(19): Show TCAGATTCCTTTTGTAGTTGTCATCTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0220 a0001c0001t0061g0220	1	282	0.0036	-26	c.35 others(37): Show c.3533_*3558delCAGATGACAACTACAAAAGGAATCTG	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	7/7	3533		chr9	TogoVar
GNAT3_chr7_80453635_80517064	80497650	GTATATAC others(19): Show GTATATACATATACGTATATACATACA	G G	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03195.hp2 NA18977.hp1 others(1): Show HG02683.hp1 HG03195.hp2 NA18977.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0002t0002g0211 others(1): Show a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0002t0002g0211 a0001c0002t0002g0215	4	334	0.0120	-26	c.119 others(43): Show c.119-3029_119-3004delTGTATGTATATACGTATATGTATATA	GNAT3	ENSG00000214415.4	transcript	ENST00000398291.4	protein_coding	1/7			chr7	TogoVar
GNG12_chr1_67696475_67838467	67709912	TTATATAT others(19): Show TTATATATATAGTTATATATATAGTTA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01168.hp2 HG01358.hp2 others(14): Show HG00558.hp1 HG01168.hp2 HG01358.hp2 HG01515.hp2 HG02080.hp2 HG02132.hp2 HG02135.hp1 NA18966.hp2 NA18971.hp2 NA18990.hp2 NA19012.hp1 NA19057.hp1 NA19060.hp1 NA19070.hp1 NA19074.hp1 NA19089.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0035 a0001c0001t0002g0061 a0001c0001t0002g0069 others(14): Show a0001c0001t0002g0035 a0001c0001t0002g0061 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0105 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0155 a0001c0001t0002g0243 a0001c0001t0017g0108 a0001c0001t0017g0109	17	274	0.0620	-26	c.-26 others(43): Show c.-26-2226_-26-2201delTAACTATATATATAACTATATATATA	GNG12	ENSG00000172380.6	transcript	ENST00000370982.4	protein_coding	2/3			chr1	TogoVar

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