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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
FOXN3_chr14_89151177_89422233	89362239	ACCACCAC others(26): Show ACCACCACCTCCAGCACCACCACCACCTCCTCCT	A A	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	230	0.0044	-33	c.544 others(52): Show c.544-11464_544-11432delAGGAGGAGGTGGTGGTGGTGCTGGAG GTGGTGG		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362443	TCCAGCAC others(26): Show TCCAGCACCAGCTCCACCACCTCCTCCTCCACCA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0098 a0001c0001t0081g0098	1	230	0.0044	-33	c.544 others(52): Show c.544-11668_544-11636delTGGTGGAGGAGGAGGTGGTGGAGCTG GTGCTGG		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362713	ACCACCAT others(26): Show ACCACCATCTCCACCACCACCTCCACCACCATCT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01517.hp2 HG04184.hp1 others(1): Show HG00140.hp1 HG01517.hp2 HG04184.hp1 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0096 a0001c0001t0001 a0001c0001t0022 a0001c0001t0096	a0001c0001t0001g0046 a0001c0001t0001g0136 a0001c0001t0022g0017 others(1): Show a0001c0001t0001g0046 a0001c0001t0001g0136 a0001c0001t0022g0017 a0001c0001t0096g0151	4	230	0.0174	-33	c.544 others(52): Show c.544-11938_544-11906delAGATGGTGGTGGAGGTGGTGGTGGAG ATGGTGG		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89363955	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02809.hp1 HG02818.hp1 others(3): Show HG01884.hp2 HG02809.hp1 HG02818.hp1 HG03041.hp2 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0028 a0001c0001t0076	a0001c0001t0001g0085 a0001c0001t0001g0225 a0001c0001t0002g0179 others(3): Show a0001c0001t0001g0085 a0001c0001t0001g0225 a0001c0001t0002g0179 a0001c0001t0016g0162 a0001c0001t0028g0086 a0001c0001t0076g0163	6	230	0.0261	-33	c.544 others(52): Show c.544-13180_544-13148delTATATATATATATATATATATATATA TATATAT		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FREM2_chr13_38682077_38892131	38813485	TCTCTCTC others(26): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02257.hp1 HG02486.hp2 others(3): Show HG01167.hp1 HG02257.hp1 HG02486.hp2 NA18963.hp1 NA18992.hp2 NA20300.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0010 a0021	a0001c0002 a0001c0030 a0002c0006 others(3): Show a0001c0002 a0001c0030 a0002c0006 a0004c0004 a0010c0013 a0021c0044	a0001c0002t0001 a0001c0030t0047 a0002c0006t0007 others(3): Show a0001c0002t0001 a0001c0030t0047 a0002c0006t0007 a0004c0004t0007 a0010c0013t0006 a0021c0044t0056	a0001c0002t0001g0135 a0001c0030t0047g0151 a0002c0006t0007g0237 others(3): Show a0001c0002t0001g0135 a0001c0030t0047g0151 a0002c0006t0007g0237 a0004c0004t0007g0015 a0010c0013t0006g0205 a0021c0044t0056g0254	6	262	0.0229	-33	c.601 others(54): Show c.6019+28711_6019+28743delCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTC		FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	6/23					INFO_REALIGN_3_PRIME	chr13	TogoVar
FRK_chr6_115926149_116065891	116061039	TTTCATCC others(26): Show TTTCATCCTGGAGAAACAGGCTAGCCCAGGTAGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0211 a0001c0001t0008g0211	1	274	0.0037	-33	c.-76 others(42): Show c.-761_-729delGCTACCTGGGCTAGCCTGTTTCTCCAGGATGAA		FRK	ENSG00000111816.8	transcript	ENST00000606080.2	protein_coding					149		chr6	TogoVar
FRMD3_chr9_83239622_83543401	83357226	TTATATAT others(26): Show TTATATATATATAATACATACATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0156 a0001c0001t0059g0156	1	242	0.0041	-33	c.296 others(50): Show c.296-7502_296-7470delTATATATATATATGTATGTATTATATAT ATATA		FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	3/13						chr9	TogoVar
FRMD5_chr15_43865764_44200271	44191909	ATATATAT others(26): Show ATATATATATATATTATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0065 a0001c0002t0002g0065	1	146	0.0069	-33	c.102 others(50): Show c.102+3011_102+3043delCATATATATATATATATATAATATATAT ATATA		FRMD5	ENSG00000171877.21	transcript	ENST00000417257.6	protein_coding	1/13						chr15	TogoVar
FRS2_chr12_69465388_69584793	69538216	TATATATA others(26): Show TATATATAGCATTGCAGATTATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp1 HG02027.hp1 others(18): Show HG00609.hp2 HG00673.hp1 HG02027.hp1 HG02074.hp2 HG02132.hp1 HG03831.hp2 NA18612.hp1 NA18945.hp2 NA18946.hp2 NA18954.hp1 NA18966.hp2 NA18967.hp1 NA19005.hp1 NA19007.hp2 NA19012.hp1 NA19054.hp1 NA19056.hp2 NA19057.hp2 NA19063.hp2 NA19070.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0027 a0001c0002t0001 a0001c0001t0002 a0001c0001t0027 a0001c0002t0001	a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0269 others(18): Show a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0269 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0288 a0001c0001t0002g0304 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0312 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0323 a0001c0001t0002g0325 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0334 a0001c0001t0027g0268 a0001c0002t0001g0313	21	342	0.0614	-33	c.-12 others(52): Show c.-122+6168_-122+6200delGCATTGCAGATTATATATATATATAC ATATATA		FRS2	ENSG00000166225.9	transcript	ENST00000549921.6	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
FRYL_chr4_48492357_48785279	48659861	AAGGAGAA others(26): Show AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	A A	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	282	0.0036	-33	c.-81 others(52): Show c.-81+24779_-81+24811delCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCT		FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63						chr4	TogoVar
FSCN2_chr17_81523377_81542130	81535650	ACCATCCC others(26): Show ACCATCCCCATCTCCATCCCCACCATCCCCATCT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA21309.hp1 HG02015.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0005 a0001c0001t0002 a0001c0002t0005	a0001c0001t0002g0098 a0001c0002t0005g0076 a0001c0001t0002g0098 a0001c0002t0005g0076	2	432	0.0046	-33	c.983 others(48): Show c.983+456_984-450delCATCCCCACCATCCCCATCTCCATCCCCAT CTC		FSCN2	ENSG00000186765.12	transcript	ENST00000417245.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr17	TogoVar
FSHR_chr2_48957157_49159515	49061673	CTATATAT others(26): Show CTATATATAACTATATATTTATATTTATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19030.hp1 HG02559.hp1 NA19030.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0161 a0003c0003t0001g0162 a0003c0003t0001g0161 a0003c0003t0001g0162	2	350	0.0057	-33	c.224 others(50): Show c.224+6513_224+6545delATATATATAAATATAAATATATAGTTAT ATATA		FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9						chr2	TogoVar
FSHR_chr2_48957157_49159515	49127797	TTCTTCTT others(26): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03041.hp2 HG01167.hp1 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0241 a0002c0002t0001g0286 a0002c0002t0001g0241 a0002c0002t0001g0286	2	350	0.0057	-33	c.152 others(52): Show c.152+26436_152+26468delGGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGA		FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	1/9						chr2	TogoVar
FTCD_chr21_46131779_46160579	46137283	GCACGTTG others(26): Show GCACGTTGAAATATGCGCCAAACACGCCCATCTC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02135.hp1 HG02135.hp1	a0012 a0012	a0012c0028 a0012c0028	a0012c0028t0001 a0012c0028t0001	a0012c0028t0001g0009 a0012c0028t0001g0009	1	230	0.0044	-33	c.146 others(42): Show c.1462_1494delGAGATGGGCGTGTTTGGCGCATATTTCAACGTG	p.Glu others(13): Show p.Glu488_Val498del	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	13/14	1550/1890	1462/1626	488/541			chr21	TogoVar
FTO_chr16_53699156_54126941	53789864	GTATATAT others(26): Show GTATATATATACAAATTATATATACATATACGTA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG00738.hp1 others(17): Show HG00140.hp1 HG00558.hp2 HG00738.hp1 HG01081.hp2 HG01168.hp1 HG02071.hp2 HG02083.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02970.hp2 HG03490.hp1 HG03669.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 NA18995.hp2 NA18998.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0019 a0001c0001t0030 a0001c0001t0051 a0001c0001t0052 a0001c0001t0064 a0001c0001t0068 a0001c0006t0012	a0001c0001t0001g0065 a0001c0001t0001g0092 a0001c0001t0001g0093 others(17): Show a0001c0001t0001g0065 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0174 a0001c0001t0002g0051 a0001c0001t0002g0175 a0001c0001t0003g0091 a0001c0001t0004g0024 a0001c0001t0004g0094 a0001c0001t0004g0096 a0001c0001t0005g0134 a0001c0001t0008g0132 a0001c0001t0019g0038 a0001c0001t0019g0172 a0001c0001t0030g0019 a0001c0001t0051g0101 a0001c0001t0052g0180 a0001c0001t0064g0035 a0001c0001t0068g0166 a0001c0006t0012g0057	20	194	0.1031	-33	c.46- others(50): Show c.46-20267_46-20235delTACAAATTATATATACATATACGTATAT ATATA		FTO	ENSG00000140718.22	transcript	ENST00000471389.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr16	TogoVar
FTO_chr16_53699156_54126941	54008805	AAATAATA others(26): Show AAATAATAATAATAATAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA18948.hp1 HG01934.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0040 a0001c0001t0002 a0001c0001t0040	a0001c0001t0002g0103 a0001c0001t0040g0135 a0001c0001t0002g0103 a0001c0001t0040g0135	2	194	0.0103	-33	c.136 others(54): Show c.1364+74720_1364+74752delTAATAATAATAATAATAATAATAA TAATAATAA		FTO	ENSG00000140718.22	transcript	ENST00000471389.6	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr16	TogoVar
FTSJ3_chr17_63814433_63832663	63825267	AGATTCAT others(26): Show AGATTCATGGCGAGAGGCTTGGGGCTTGGTGGCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03130.hp2 HG03130.hp2	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0001 a0006c0020t0001	a0006c0020t0001g0060 a0006c0020t0001g0060	1	372	0.0027	-33	c.537 others(40): Show c.537_569delGGCCACCAAGCCCCAAGCCTCTCGCCATGAATC	p.Gln others(19): Show p.Gln179_Ser190delinsHis	FTSJ3	ENSG00000108592.17	transcript	ENST00000427159.7	protein_coding	7/21	1207/3551	537/2544	179/847			chr17	TogoVar
FUBP3_chr9_130574577_130643352	130576320	GCTTCTTC others(26): Show GCTTCTTCCTCTGCCCTGATAAAGTTTAATGTTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00621.hp1 HG01070.hp1 others(84): Show HG00323.hp1 HG00621.hp1 HG01070.hp1 HG01071.hp2 HG01123.hp2 HG01192.hp1 HG01255.hp1 HG01258.hp2 HG01433.hp2 HG01884.hp1 HG01891.hp1 HG01943.hp2 HG01993.hp1 HG02109.hp1 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02293.hp2 HG02572.hp2 HG02615.hp1 HG02738.hp1 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03516.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18952.hp1 NA18956.hp1 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18997.hp1 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19054.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp1 NA19078.hp2 NA19084.hp1 NA19085.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0004 a0003c0009 others(1): Show a0001c0001 a0001c0004 a0003c0009 a0005c0007	a0001c0001t0001 a0001c0001t0009 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0009 a0001c0004t0001 a0003c0009t0001 a0005c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(80): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0240 a0001c0001t0001g0365 a0001c0001t0009g0062 a0001c0004t0001g0070 a0001c0004t0001g0076 a0003c0009t0001g0039 a0005c0007t0001g0074	87	378	0.2302	-33	c.-33 others(44): Show c.-3360_-3328delCTTCTTCCTCTGCCCTGATAAAGTTTAATGTTC		FUBP3	ENSG00000107164.17	transcript	ENST00000319725.10	protein_coding					3256		chr9	TogoVar
FUBP3_chr9_130574577_130643352	130589668	TGTGTGTG others(26): Show TGTGTGTGTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18961.hp2 HG00597.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0192 a0001c0001t0003g0201 a0001c0001t0001g0192 a0001c0001t0003g0201	2	378	0.0053	-33	c.85- others(48): Show c.85-5814_85-5782delGTGTGTGTATATATATATATATATATATAT ATA		FUBP3	ENSG00000107164.17	transcript	ENST00000319725.10	protein_coding	1/18						chr9	TogoVar
FUNDC2_chrX_155021844_155065304	155057027	AGGTTGGC others(26): Show AGGTTGGCCTCATCCTGCTAGTATGAGAACGGCT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02886.hp2 HG06807.hp1 HG02886.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0062 a0001c0001t0018g0063 a0001c0001t0018g0062 a0001c0001t0018g0063	2	267	0.0075	-33	c.23 others(44): Show c.2357_*2389delGTTGGCCTCATCCTGCTAGTATGAGAACGGCTG		FUNDC2	ENSG00000165775.18	transcript	ENST00000369498.8	protein_coding	5/5				2357	INFO_REALIGN_3_PRIME	chrX	TogoVar
FUOM_chr10_133350158_133363019	133350927	TGGGCTCA others(26): Show TGGGCTCAGAGCAGCTGACAACTAAGGTTAGCTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	-33	c.44 others(44): Show c.4410_*4442delCAGCTAACCTTAGTTGTCAGCTGCTCTGAGCCC		FUOM	ENSG00000148803.12	transcript	ENST00000278025.9	protein_coding					4230		chr10	TogoVar
FUT6_chr19_5825408_5844702	5834264	TGGGGACC others(26): Show TGGGGACCGATAGGAGGGAGAATAGGCAGGCGTG	T T	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0113 a0001c0001t0014g0113	1	436	0.0023	-33	c.-13 others(48): Show c.-13+653_-13+685delCACGCCTGCCTATTCTCCCTCCTATCGGTC CCC		FUT6	ENSG00000156413.15	transcript	ENST00000318336.10	protein_coding	2/2						chr19	TogoVar
FYB2_chr1_56713789_56824404	56823465	AGAATTAT others(26): Show AGAATTATCTTGGAGGTGTGTGGGTTCAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0250	1	380	0.0026	-33	c.-42 others(44): Show c.-4208_-4176delCTTTCTTGAACCCACACACCTCCAAGATAATTC		FYB2	ENSG00000187889.13	transcript	ENST00000343433.7	protein_coding					4062		chr1	TogoVar
FZD5_chr2_207757598_207774906	207764612	TTAAAGTA others(26): Show TTAAAGTAAATTAGTTGTTCAGCATGTTGCTAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0071 a0001c0001t0061g0071	1	442	0.0023	-33	c.23 others(44): Show c.2337_*2369delTTTAGCAACATGCTGAACAACTAATTTACTTTA		FZD5	ENSG00000163251.4	transcript	ENST00000295417.4	protein_coding	2/2				2337		chr2	TogoVar
GAA_chr17_80096581_80124881	80120349	CTCACCTC others(26): Show CTCACCTCCCCTCCCCTTCCCATGTCACCTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0007 a0001c0007t0005g0007	1	416	0.0024	-33	c.10 others(44): Show c.1019_*1051delTCACCTCCCCTCCCCTTCCCATGTCACCTCCCT		GAA	ENSG00000171298.14	transcript	ENST00000302262.8	protein_coding					469		chr17	TogoVar
GABRB3_chr15_26538552_26778066	26634977	TATCTCTA others(26): Show TATCTCTAAATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0016 a0001c0005t0016	a0001c0005t0016g0193 a0001c0005t0016g0193	1	204	0.0049	-33	c.241 others(52): Show c.241-13476_241-13444delTATATATATATATATATATATATATT TAGAGAT		GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8						chr15	TogoVar
GABRB3_chr15_26538552_26778066	26764164	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0160 a0001c0001t0004g0160	1	204	0.0049	-33	c.240 others(50): Show c.240+8205_240+8237delATATATATATATATATATTTTTTTTTTT TTTTT		GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8						chr15	TogoVar
GABRB3_chr15_26538552_26778066	26764166	AAAAAAAA others(26): Show AAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA18612.hp2 HG00280.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0183 a0001c0001t0009g0186 a0001c0001t0001g0183 a0001c0001t0009g0186	2	204	0.0098	-33	c.240 others(50): Show c.240+8203_240+8235delATATATATATATATATATATTTTTTTTT TTTTT		GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8						chr15	TogoVar
GABRB3_chr15_26538552_26778066	26764176	AAAAATAT others(26): Show AAAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0134 a0001c0001t0006g0134	1	204	0.0049	-33	c.240 others(50): Show c.240+8193_240+8225delATATATATATATATATATATATATATAT ATTTT		GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8						chr15	TogoVar
GABRB3_chr15_26538552_26778066	26764178	AAATATAT others(26): Show AAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	204	0.0049	-33	c.240 others(50): Show c.240+8191_240+8223delATATATATATATATATATATATATATAT ATATT		GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8						chr15	TogoVar
GABRE_chrX_151948124_151979676	151977188	AGATTGCC others(26): Show AGATTGCCTGAGGCATTTGTGAAGAGAAATTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0202 a0002c0003t0001g0202	1	326	0.0031	-33	c.-25 others(44): Show c.-2596_-2564delAAAAATTTCTCTTCACAAATGCCTCAGGCAATC		GABRE	ENSG00000102287.19	transcript	ENST00000370328.4	protein_coding					2513		chrX	TogoVar
GABRG3_chr15_26966181_27546984	27305657	TATATAAT others(26): Show TATATAATATAAACCTATATGTTTATATATAAAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp2 HG01243.hp1 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0026 a0001c0002t0001g0049 a0001c0001t0001g0026 a0001c0002t0001g0049	2	92	0.0217	-33	c.271 others(52): Show c.271-21146_271-21114delATATAAACCTATATGTTTATATATAA ACATATA		GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27309134	TAGATGTT others(26): Show TAGATGTTTATATAGAAACACATATAATGTAAAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp1 HG03139.hp2 others(3): Show HG02109.hp1 HG02572.hp1 HG03139.hp2 HG03209.hp2 HG03540.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0001c0007	a0001c0002t0006 a0001c0003t0022 a0001c0004t0002 others(3): Show a0001c0002t0006 a0001c0003t0022 a0001c0004t0002 a0001c0004t0011 a0001c0004t0030 a0001c0007t0036	a0001c0002t0006g0052 a0001c0003t0022g0058 a0001c0004t0002g0061 others(3): Show a0001c0002t0006g0052 a0001c0003t0022g0058 a0001c0004t0002g0061 a0001c0004t0011g0060 a0001c0004t0030g0063 a0001c0007t0036g0016	6	92	0.0652	-33	c.271 others(52): Show c.271-17640_271-17608delGATGTTTATATAGAAACACATATAAT GTAAACA		GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRR2_chr6_89249464_89320299	89292522	GATATATA others(26): Show GATATATATATCAGATATATATCGTATCTCTGAT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp2 HG02922.hp1 others(1): Show HG02615.hp2 HG02647.hp2 HG02922.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0003g0094 a0001c0001t0003g0312 a0001c0001t0005g0093 others(1): Show a0001c0001t0003g0094 a0001c0001t0003g0312 a0001c0001t0005g0093 a0001c0001t0006g0306	4	366	0.0109	-33	c.220 others(50): Show c.220+7204_220+7236delATCAGAGATACGATATATATCTGATATA TATAT		GABRR2	ENSG00000111886.11	transcript	ENST00000402938.4	protein_coding	2/8						chr6	TogoVar
GABRR2_chr6_89249464_89320299	89292553	GATATATA others(26): Show GATATATATATCAGATATATATCGTATCTCTGAT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(112): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG01069.hp1 HG01081.hp2 HG01168.hp1 HG01255.hp1 HG01256.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01934.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02486.hp1 HG02572.hp2 HG02630.hp1 HG02698.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 NA18612.hp1 NA18939.hp2 NA18945.hp1 NA18946.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18990.hp1 NA18993.hp2 NA18995.hp1 NA19000.hp1 NA19002.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19056.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19077.hp2 NA19082.hp2 NA19086.hp2 NA19087.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0012 a0002c0003 others(1): Show a0001c0001 a0001c0012 a0002c0003 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0020 a0001c0001t0021 a0001c0001t0029 a0001c0012t0005 a0002c0003t0002 a0002c0003t0004 a0002c0003t0014 a0002c0003t0019 a0007c0008t0001	a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0046 others(112): Show a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0076 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0119 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0001g0199 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0232 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0001g0271 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0290 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0333 a0001c0001t0001g0346 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0002g0279 a0001c0001t0003g0049 a0001c0001t0003g0060 a0001c0001t0003g0109 a0001c0001t0003g0115 a0001c0001t0003g0137 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0175 a0001c0001t0003g0179 a0001c0001t0003g0186 a0001c0001t0003g0192 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0250 a0001c0001t0003g0280 a0001c0001t0003g0317 a0001c0001t0003g0321 a0001c0001t0005g0047 a0001c0001t0006g0025 a0001c0001t0007g0052 a0001c0001t0007g0054 a0001c0001t0007g0096 a0001c0001t0008g0039 a0001c0001t0009g0297 a0001c0001t0010g0198 a0001c0001t0012g0095 a0001c0001t0020g0238 a0001c0001t0021g0255 a0001c0001t0029g0360 a0001c0012t0005g0023 a0002c0003t0002g0099 a0002c0003t0002g0100 a0002c0003t0002g0165 a0002c0003t0002g0171 a0002c0003t0002g0182 a0002c0003t0002g0225 a0002c0003t0002g0240 a0002c0003t0002g0254 a0002c0003t0002g0270 a0002c0003t0002g0274 a0002c0003t0004g0012 a0002c0003t0004g0015 a0002c0003t0004g0020 a0002c0003t0004g0105 a0002c0003t0004g0106 a0002c0003t0004g0118 a0002c0003t0004g0140 a0002c0003t0004g0243 a0002c0003t0004g0298 a0002c0003t0004g0305 a0002c0003t0004g0313 a0002c0003t0004g0314 a0002c0003t0004g0318 a0002c0003t0004g0328 a0002c0003t0004g0331 a0002c0003t0004g0350 a0002c0003t0004g0352 a0002c0003t0014g0008 a0002c0003t0019g0024 a0007c0008t0001g0233	115	366	0.3142	-33	c.220 others(50): Show c.220+7173_220+7205delATCAGAGATACGATATATATCTGATATA TATAT		GABRR2	ENSG00000111886.11	transcript	ENST00000402938.4	protein_coding	2/8						chr6	TogoVar
GABRR2_chr6_89249464_89320299	89292584	GATATATA others(26): Show GATATATATATCAGATATATATCGTATCTCTGAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01496.hp1 HG02257.hp2 others(9): Show HG00099.hp1 HG01496.hp1 HG02257.hp2 HG02559.hp2 HG02809.hp1 HG02809.hp2 HG03041.hp2 HG03139.hp1 HG03516.hp2 HG06807.hp2 NA19076.hp1 NA19076.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0001t0022 a0001c0002t0001 a0002c0003t0002	a0001c0001t0001g0136 a0001c0001t0006g0121 a0001c0001t0006g0332 others(7): Show a0001c0001t0001g0136 a0001c0001t0006g0121 a0001c0001t0006g0332 a0001c0001t0011g0004 a0001c0001t0013g0358 a0001c0001t0022g0022 a0001c0002t0001g0273 a0002c0003t0002g0005 a0002c0003t0002g0102 a0002c0003t0002g0338	12	366	0.0328	-33	c.220 others(50): Show c.220+7142_220+7174delATCAGAGATACGATATATATCTGATATA TATAT		GABRR2	ENSG00000111886.11	transcript	ENST00000402938.4	protein_coding	2/8						chr6	TogoVar
GABRR2_chr6_89249464_89320299	89292615	GATATATA others(26): Show GATATATATATCAGATATATATCGTATCTCTGAT	G G	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	366	0.0027	-33	c.220 others(50): Show c.220+7111_220+7143delATCAGAGATACGATATATATCTGATATA TATAT		GABRR2	ENSG00000111886.11	transcript	ENST00000402938.4	protein_coding	2/8						chr6	TogoVar
GAK_chr4_844277_937316	856626	TGCTCACC others(26): Show TGCTCACCACAGCTGCTCACACCTGCTCACCATA	T T	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	390	0.0026	-33	c.328 others(52): Show c.3283+2947_3283+2979delTATGGTGAGCAGGTGTGAGCAGCTGT GGTGAGC		GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	24/27						chr4	TogoVar
GAK_chr4_844277_937316	887208	CGTACACA others(26): Show CGTACACATGCACGCGGCTCACGCGCACTCACGT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00609.hp2 others(34): Show HG00438.hp1 HG00558.hp2 HG00609.hp2 HG00642.hp2 HG00735.hp2 HG00741.hp2 HG01081.hp2 HG01358.hp1 HG01358.hp2 HG02040.hp1 HG02300.hp1 HG02486.hp2 HG02602.hp1 HG02647.hp1 HG02895.hp2 HG02922.hp2 HG03139.hp1 HG03209.hp2 HG03669.hp1 HG03834.hp2 HG04199.hp1 NA18612.hp2 NA18950.hp2 NA18959.hp1 NA18962.hp1 NA18969.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA19077.hp1 NA19080.hp1 NA19083.hp1 NA19085.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0022 a0001 a0003 a0022	a0001c0001 a0001c0002 a0001c0010 others(3): Show a0001c0001 a0001c0002 a0001c0010 a0001c0024 a0003c0006 a0022c0043	a0001c0001t0001 a0001c0002t0001 a0001c0010t0002 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0010t0002 a0001c0024t0001 a0003c0006t0001 a0022c0043t0001	a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 others(34): Show a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0317 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0337 a0001c0001t0001g0345 a0001c0001t0001g0355 a0001c0002t0001g0018 a0001c0010t0002g0342 a0001c0010t0002g0343 a0001c0010t0002g0344 a0001c0024t0001g0021 a0003c0006t0001g0162 a0003c0006t0001g0319 a0003c0006t0001g0353 a0003c0006t0001g0354 a0003c0006t0001g0356 a0003c0006t0001g0358 a0003c0006t0001g0360 a0003c0006t0001g0361 a0003c0006t0001g0362 a0003c0006t0001g0363 a0003c0006t0001g0364 a0003c0006t0001g0365 a0003c0006t0001g0366 a0003c0006t0001g0367 a0003c0006t0001g0368 a0003c0006t0001g0369 a0003c0006t0001g0370 a0003c0006t0001g0371 a0003c0006t0001g0372 a0003c0006t0001g0373 a0003c0006t0001g0374 a0022c0043t0001g0359	37	390	0.0949	-33	c.120 others(52): Show c.1205+1606_1205+1638delACGTGAGTGCGCGTGAGCCGCGTGCA TGTGTAC		GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	11/27						chr4	TogoVar
GAL3ST1_chr22_30549635_30579665	30573902	ACCCCTCC others(26): Show ACCCCTCCTGGATGCCAGGGTTTGTCCCACTCTC	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	452	0.0022	-33	c.-12 others(50): Show c.-120+531_-120+563delGAGAGTGGGACAAACCCTGGCATCCAGG AGGGG		GAL3ST1	ENSG00000128242.13	transcript	ENST00000406361.6	protein_coding	1/3						chr22	TogoVar
GALK2_chr15_49165247_49336882	49299709	GCTTTCTT others(26): Show GCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	348	0.0029	-33	c.967 others(50): Show c.967+7201_967+7233delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTT		GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
GALNT13_chr2_153866922_154458979	154298795	TTTATATA others(26): Show TTTATATATAAATTATATATTATTTATATATACA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(101): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02040.hp1 HG02129.hp2 HG02135.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02818.hp1 HG03017.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 NA18612.hp1 NA18939.hp2 NA18947.hp1 NA18952.hp2 NA18953.hp1 NA18959.hp2 NA18961.hp1 NA18969.hp1 NA18975.hp1 NA18990.hp2 NA18993.hp1 NA18998.hp1 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19083.hp1 NA19240.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(44): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0040 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0052 a0001c0001t0055 a0001c0001t0057 a0001c0001t0058 a0001c0001t0062 a0001c0001t0066 a0001c0001t0068 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0075	a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0035 others(101): Show a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0003g0010 a0001c0001t0003g0018 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0059 a0001c0001t0004g0002 a0001c0001t0004g0003 a0001c0001t0004g0189 a0001c0001t0004g0204 a0001c0001t0005g0103 a0001c0001t0005g0117 a0001c0001t0005g0119 a0001c0001t0005g0121 a0001c0001t0005g0123 a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0006g0112 a0001c0001t0007g0190 a0001c0001t0007g0196 a0001c0001t0007g0197 a0001c0001t0007g0198 a0001c0001t0008g0017 a0001c0001t0008g0019 a0001c0001t0008g0030 a0001c0001t0008g0042 a0001c0001t0008g0043 a0001c0001t0008g0057 a0001c0001t0008g0058 a0001c0001t0009g0089 a0001c0001t0009g0102 a0001c0001t0009g0127 a0001c0001t0010g0191 a0001c0001t0010g0200 a0001c0001t0010g0201 a0001c0001t0011g0001 a0001c0001t0011g0122 a0001c0001t0012g0179 a0001c0001t0012g0180 a0001c0001t0013g0151 a0001c0001t0013g0161 a0001c0001t0013g0167 a0001c0001t0014g0143 a0001c0001t0014g0144 a0001c0001t0015g0067 a0001c0001t0015g0145 a0001c0001t0016g0163 a0001c0001t0016g0169 a0001c0001t0017g0162 a0001c0001t0017g0168 a0001c0001t0018g0165 a0001c0001t0018g0170 a0001c0001t0019g0076 a0001c0001t0019g0078 a0001c0001t0021g0178 a0001c0001t0023g0033 a0001c0001t0025g0142 a0001c0001t0026g0184 a0001c0001t0026g0185 a0001c0001t0027g0009 a0001c0001t0028g0040 a0001c0001t0029g0166 a0001c0001t0032g0077 a0001c0001t0035g0098 a0001c0001t0036g0090 a0001c0001t0037g0115 a0001c0001t0040g0082 a0001c0001t0043g0213 a0001c0001t0045g0211 a0001c0001t0046g0186 a0001c0001t0047g0114 a0001c0001t0052g0187 a0001c0001t0055g0007 a0001c0001t0057g0150 a0001c0001t0058g0034 a0001c0001t0062g0039 a0001c0001t0066g0006 a0001c0001t0068g0177 a0001c0001t0070g0158 a0001c0001t0071g0175 a0001c0001t0072g0080 a0001c0001t0073g0081 a0001c0001t0075g0085	104	214	0.4860	-33	c.976 others(50): Show c.976-2571_976-2539delAATTATATATTATTTATATATACATTAT ATATA		GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT17_chr7_71127144_71718599	71336007	CCTTCTTC others(26): Show CCTTCTTCTTCCTTCTTCTTTCTTCCTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03130.hp2 HG02615.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0024 a0001c0001t0010g0072 a0001c0001t0002g0024 a0001c0001t0010g0072	2	76	0.0263	-33	c.422 others(48): Show c.422+275_422+307delCTTCTTCTTCCTTCTTCTTTCTTCCTTTTT TTT		GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	2/10						chr7	TogoVar
GALNT17_chr7_71127144_71718599	71657848	TTATGGAT others(26): Show TTATGGATGGATGGATGGATGGATGGATGGATGG	T T	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0049 a0001c0001t0011g0049	1	76	0.0132	-33	c.108 others(52): Show c.1081-7562_1081-7530delTATGGATGGATGGATGGATGGATGGA TGGATGG		GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	6/10						chr7	TogoVar
GALNT18_chr11_11265877_11627005	11373879	TGGGGGAA others(26): Show TGGGGGAATAAAAGGAGAAATGAAGGCTCCTCAG	T T	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0234 a0001c0002t0001g0234	1	260	0.0039	-33	c.978 others(50): Show c.978-1283_978-1251delCTGAGGAGCCTTCATTTCTCCTTTTATT CCCCC		GALNT18	ENSG00000110328.6	transcript	ENST00000227756.5	protein_coding	5/10						chr11	TogoVar
GALNTL6_chr4_171808404_173046559	171940305	AGGGGATG others(26): Show AGGGGATGCAAATAAGAATGTTGTATTCTTATTT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18522.hp1 NA18522.hp2 HG03516.hp1 NA18522.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0008 a0001c0001t0002g0022 a0001c0001t0004g0013 a0001c0001t0002g0008 a0001c0001t0002g0022 a0001c0001t0004g0013	3	40	0.0750	-33	c.138 others(54): Show c.138+125608_138+125640delTGTATTCTTATTTGGGGATGCAAA TAAGAATGT		GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172206781	TGTTTTGT others(26): Show TGTTTTGTTTTGTTTTGTTTTTCTGTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02015.hp2 NA18906.hp2 HG01884.hp1 HG02015.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0005 a0001c0001t0001 a0001c0001t0002 a0001c0003t0005	a0001c0001t0001g0040 a0001c0001t0002g0003 a0001c0003t0005g0004 a0001c0001t0001g0040 a0001c0001t0002g0003 a0001c0003t0005g0004	3	40	0.0750	-33	c.139 others(52): Show c.139-22874_139-22842delGTTTTGTTTTGTTTTGTTTTTCTGTT TTTTTTG		GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12						chr4	TogoVar
GALR1_chr18_77244848_77282900	77258827	CTGGTGAT others(26): Show CTGGTGATGGTGGTGATGGTGGTGGTGATGGTGG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02723.hp2 HG02897.hp1 others(1): Show HG02145.hp1 HG02723.hp2 HG02897.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0042 a0001c0002t0051 a0001c0001t0003 a0001c0001t0042 a0001c0002t0051	a0001c0001t0003g0337 a0001c0001t0042g0157 a0001c0001t0042g0221 others(1): Show a0001c0001t0003g0337 a0001c0001t0042g0157 a0001c0001t0042g0221 a0001c0002t0051g0161	4	366	0.0109	-33	c.732 others(50): Show c.732+2622_732+2654delGTGGTGGTGATGGTGGTGGTGATGGTGG TGATG		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77259141	CATGGTGG others(26): Show CATGGTGGTCATGGTGGTGATGATGGTGGTGATG	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02027.hp1 HG03669.hp2 others(3): Show HG01261.hp2 HG02027.hp1 HG03669.hp2 HG03942.hp1 NA18963.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0019 a0001c0001t0039 others(2): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0039 a0001c0001t0080 a0001c0002t0062	a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0019g0234 others(3): Show a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0019g0234 a0001c0001t0039g0290 a0001c0001t0080g0304 a0001c0002t0062g0024	6	366	0.0164	-33	c.732 others(50): Show c.732+2927_732+2959delCATGGTGGTGATGATGGTGGTGATGATG GTGGT		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
GARIN5B_chr19_55349908_55368260	55361961	GGGCCCTT others(26): Show GGGCCCTTAGCTCCTCCCTAGACCCAGGAGTCCA	G G	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0010 a0010	a0010c0039 a0010c0039	a0010c0039t0002 a0010c0039t0002	a0010c0039t0002g0123 a0010c0039t0002g0123	1	356	0.0028	-33	c.564 others(48): Show c.564+251_564+283delTGGACTCCTGGGTCTAGGGAGGAGCTAAGG GCC		GARIN5B	ENSG00000180043.11	transcript	ENST00000424985.3	protein_coding	3/10						chr19	TogoVar

Search by Variant

Search

Search Results (Total: 2438 hits)