Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	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
SLC7A6_chr16_68259526_68306819	68291946	ATTTTGTG others(36): Show ATTTTGTGTGCTGGTAGCTCATGTTTATGTGCTGGTAGCTCATG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	282	0.0036	-43	c.102 others(60): Show c.1022+311_1022+353delATGTGCTGGTAGCTCATGTTTTGTGTGC TGGTAGCTCATGTTT		SLC7A6	ENSG00000103064.15	transcript	ENST00000219343.11	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC8A1_chr2_40092270_40457090	40255000	CTATTTCT others(36): Show CTATTTCTTCATTTCTTCCTTGACTGTCTTCATTCTTTGCTTTT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01975.hp2 NA18957.hp1 others(1): Show HG01934.hp2 HG01975.hp2 NA18957.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0045 a0001c0001t0161 others(1): Show a0001c0001t0041 a0001c0001t0045 a0001c0001t0161 a0001c0001t0177	a0001c0001t0041g0233 a0001c0001t0045g0013 a0001c0001t0161g0178 others(1): Show a0001c0001t0041g0233 a0001c0001t0045g0013 a0001c0001t0161g0178 a0001c0001t0177g0172	4	236	0.0170	-43	c.180 others(64): Show c.1809-76550_1809-76508delAAAAGCAAAGAATGAAGACAGTCA AGGAAGAAATGAAGAAATA		SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10						chr2	TogoVar
SLC9A3_chr5_465456_529449	508349	GCAGGCCT others(36): Show GCAGGCCTCAGCGCGCCCGGGGATGGAGATGCCGCAGGGAAACT	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02257.hp1 HG02896.hp1 others(2): Show HG02074.hp2 HG02257.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0031 a0001c0001 a0001c0008 a0001c0031	a0001c0001t0001 a0001c0008t0001 a0001c0031t0004 a0001c0001t0001 a0001c0008t0001 a0001c0031t0004	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(2): Show a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0008t0001g0158 a0001c0031t0004g0159	5	218	0.0229	-43	c.211 others(62): Show c.211+15720_211+15762delAGTTTCCCTGCGGCATCTCCATCCCC GGGCGCGCTGAGGCCTG		SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16						chr5	TogoVar
SLC9A9_chr3_143260222_143853468	143317646	ATTTCCTT others(36): Show ATTTCCTTATGTATTTCTCAGGTTTGAAATGTTCTATGTTCCAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01109.hp1 others(53): Show HG00738.hp1 HG01069.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01934.hp1 HG02083.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03579.hp2 HG03704.hp1 HG03710.hp2 HG04115.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18955.hp2 NA19011.hp2 NA19030.hp1 NA19084.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0010 a0001c0014 a0001c0016 a0002c0007 a0002c0011 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0024 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0014 a0001c0002t0017 a0001c0002t0019 a0001c0002t0023 a0001c0003t0003 a0001c0003t0004 a0001c0003t0008 a0001c0005t0012 a0001c0008t0012 a0001c0010t0020 a0001c0014t0001 a0001c0016t0013 a0002c0007t0002 a0002c0011t0002 a0003c0006t0005	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 others(53): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0082 a0001c0001t0002g0035 a0001c0001t0002g0050 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0091 a0001c0001t0003g0030 a0001c0001t0003g0045 a0001c0001t0004g0007 a0001c0001t0004g0033 a0001c0001t0004g0040 a0001c0001t0005g0090 a0001c0001t0006g0106 a0001c0001t0007g0058 a0001c0001t0010g0020 a0001c0001t0011g0029 a0001c0001t0013g0032 a0001c0001t0015g0105 a0001c0001t0016g0081 a0001c0001t0018g0096 a0001c0001t0024g0103 a0001c0002t0001g0027 a0001c0002t0001g0064 a0001c0002t0001g0071 a0001c0002t0001g0075 a0001c0002t0001g0089 a0001c0002t0003g0005 a0001c0002t0003g0012 a0001c0002t0003g0038 a0001c0002t0003g0052 a0001c0002t0003g0067 a0001c0002t0004g0015 a0001c0002t0004g0086 a0001c0002t0007g0094 a0001c0002t0008g0039 a0001c0002t0008g0080 a0001c0002t0009g0070 a0001c0002t0014g0077 a0001c0002t0017g0010 a0001c0002t0019g0002 a0001c0002t0023g0107 a0001c0003t0003g0021 a0001c0003t0004g0095 a0001c0003t0008g0074 a0001c0005t0012g0097 a0001c0008t0012g0098 a0001c0010t0020g0034 a0001c0014t0001g0073 a0001c0016t0013g0084 a0002c0007t0002g0018 a0002c0011t0002g0056 a0003c0006t0005g0008	56	108	0.5185	-43	c.160 others(64): Show c.1604+45795_1604+45837delATGGAACATAGAACATTTCAAACC TGAGAAATACATAAGGAAA		SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	14/15						chr3	TogoVar
SLCO4A1_chr20_62637503_62677293	62673548	TAGAGACC others(36): Show TAGAGACCACGACACTGCCCAGCCCACCTTCTGACCAGGTTATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01934.hp2 NA19011.hp2 HG01081.hp1 HG01934.hp2 NA19011.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0004 a0004c0005t0002 a0001c0001t0001 a0001c0001t0004 a0004c0005t0002	a0001c0001t0001g0345 a0001c0001t0004g0303 a0004c0005t0002g0008 a0001c0001t0001g0345 a0001c0001t0004g0303 a0004c0005t0002g0008	3	432	0.0069	-43	c.16 others(54): Show c.1656_*1698delAGAGACCACGACACTGCCCAGCCCACCTTCTGAC CAGGTTATA		SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding					1256		chr20	TogoVar
SLX9_chr21_44935029_44981973	44973319	TGCCCACC others(36): Show TGCCCACCCTCTCCAGGGGTTCAGCTCCTATGTGCCCTCACCCC	T T	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18945.hp1 NA18954.hp1 others(2): Show NA18940.hp2 NA18945.hp1 NA18954.hp1 NA18961.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0098 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0098	5	334	0.0150	-43	c.569 others(57): Show c.569+83_569+125delATGTGCCCTCACCCCGCCCACCCTCTCCAGG GGTTCAGCTCCT		SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr21	TogoVar
SLX9_chr21_44935029_44981973	44973530	ACCCCGCC others(36): Show ACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTATGTGCCCTCG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02647.hp1 HG02897.hp2 others(1): Show HG01243.hp2 HG02647.hp1 HG02897.hp2 HG03516.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 others(1): Show a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0003c0003t0001g0181	4	334	0.0120	-43	c.569 others(58): Show c.569+287_569+329delGTTCAGCTCCTATGTGCCCTCGCCCCGCCC ACCCTCTCCAGGG		SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr21	TogoVar
SLX9_chr21_44935029_44981973	44973552	GTTCAGCT others(36): Show GTTCAGCTCCTATGTGCCCTCGCCCCGCCCACCCTCTCCAGGGA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01891.hp1 HG02145.hp1 others(18): Show HG01167.hp1 HG01891.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02486.hp1 HG02559.hp2 HG02723.hp1 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03516.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0134 others(16): Show a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0184 a0003c0003t0001g0029 a0003c0003t0001g0047 a0003c0003t0001g0052 a0003c0003t0001g0053 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0003t0001g0132 a0003c0003t0001g0133 a0003c0003t0001g0135	21	334	0.0629	-43	c.569 others(58): Show c.569+298_569+340delATGTGCCCTCGCCCCGCCCACCCTCTCCAG GGATTCAGCTCCT		SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr21	TogoVar
SLX9_chr21_44935029_44981973	44973573	GCCCCGCC others(36): Show GCCCCGCCCACCCTCTCCAGGGATTCAGCTCCTGAGTGCCCTCA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03017.hp2 HG04204.hp2 HG02602.hp1 HG03017.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0156	3	334	0.0090	-43	c.569 others(58): Show c.569+330_569+372delATTCAGCTCCTGAGTGCCCTCACCCCGCCC ACCCTCTCCAGGG		SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr21	TogoVar
SMAD2_chr18_47803957_47935659	47850548	AATATATA others(36): Show AATATATATTATGTATAATATATATTATATATTATATATATATT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0133 a0001c0001t0133	a0001c0001t0133g0095 a0001c0001t0133g0095	1	310	0.0032	-43	c.784 others(58): Show c.784+683_784+725delAATATATATATAATATATAATATATATTAT ACATAATATATAT		SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10						chr18	TogoVar
SMARCAL1_chr2_216407484_216488053	216485785	TTTCTGGG others(36): Show TTTCTGGGAAACCCACACAATCTAACAAGATCCAAGTGGAGATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0005 a0005c0006t0001g0005	1	408	0.0025	-43	c.28 others(54): Show c.2809_*2851delTTCTGGGAAACCCACACAATCTAACAAGATCCAA GTGGAGATG		SMARCAL1	ENSG00000138375.14	transcript	ENST00000357276.9	protein_coding					2733		chr2	TogoVar
SMIM10L1_chr12_11166194_11181016	11168200	CGAAAGAA others(36): Show CGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02109.hp2 HG02148.hp2 others(4): Show HG02074.hp1 HG02109.hp2 HG02148.hp2 HG02155.hp1 HG02273.hp2 NA18994.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0029 a0001c0001t0001 a0001c0001t0029	a0001c0001t0001g0000 a0001c0001t0029g0000 a0001c0001t0001g0000 a0001c0001t0029g0000	7	397	0.0176	-43	c.-31 others(54): Show c.-3156_-3114delGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAA AGAAAGAAA		SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding					2993		chr12	TogoVar
SMOC2_chr6_168436184_168672992	168636866	CTCCCTCC others(36): Show CTCCCTCCTCCCGCCTCCCTCCTCCCACCTCCCTCCTGCCCGCA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp1 HG02976.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0114 a0001c0002t0002g0034 a0001c0002t0002g0037 a0001c0001t0001g0114 a0001c0002t0002g0034 a0001c0002t0002g0037	3	180	0.0167	-43	c.908 others(62): Show c.908-13803_908-13761delGCCTCCCTCCTCCCACCTCCCTCCTG CCCGCATCCCTCCTCCC		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMUG1_chr12_54175366_54193985	54188267	AAATAATA others(36): Show AAATAATAATAATAATAATAATAATAATAAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0146 a0001c0001t0003g0146	1	438	0.0023	-43	c.-10 others(60): Show c.-103-408_-103-366delATTATTATTATTATTTATTATTATTATT ATTATTATTATTATT		SMUG1	ENSG00000123415.16	transcript	ENST00000682136.1	protein_coding	1/3						chr12	TogoVar
SMURF2_chr17_64537282_64667307	64573176	GGGGGAGG others(36): Show GGGGGAGGAGGAGGAGGAGGAGGGGGAGGAGGAGGGGAGGAGGA	G G	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0119 a0001c0001t0014g0119	1	174	0.0058	-43	c.858 others(60): Show c.858-1263_858-1221delTCCTCCTCCCCTCCTCCTCCCCCTCCTC CTCCTCCTCCTCCCC		SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	9/18						chr17	TogoVar
SMYD1_chr2_88062825_88118384	88065214	TCCCCTCC others(36): Show TCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0306 a0001c0004t0001g0306	1	338	0.0030	-43	c.-26 others(54): Show c.-2650_-2608delCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCC		SMYD1	ENSG00000115593.15	transcript	ENST00000419482.7	protein_coding					2610		chr2	TogoVar
SND1_chr7_127647194_128097593	128028356	TTGTTGTT others(36): Show TTGTTGTTTTAGTTTATTTTATCTCAGCAATTTCAACCTTATAC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	262	0.0038	-43	c.177 others(64): Show c.1779+37301_1779+37343delTGTTGTTTTAGTTTATTTTATCTC AGCAATTTCAACCTTATAC		SND1	ENSG00000197157.11	transcript	ENST00000354725.8	protein_coding	16/23						chr7	TogoVar
SNTG2_chr2_945849_1372613	1176399	TAACACAA others(36): Show TAACACAAGTTTACCTATATAACAAACCTGCACATGTACCCCTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(56): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00438.hp1 HG00642.hp1 HG01106.hp1 HG01106.hp2 HG01169.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01517.hp1 HG01891.hp2 HG01975.hp1 HG02015.hp1 HG02071.hp1 HG02109.hp1 HG02148.hp2 HG02165.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp2 HG02602.hp1 HG02717.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03453.hp2 HG03486.hp1 HG03579.hp2 HG03831.hp1 HG03927.hp1 HG04115.hp1 NA18522.hp2 NA18942.hp1 NA18943.hp2 NA18963.hp1 NA18969.hp1 NA18983.hp2 NA18986.hp2 NA19000.hp1 NA19043.hp2 NA19084.hp1 NA19084.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0007 a0011 a0012 a0017 a0020 a0021	a0001c0001 a0001c0002 a0002c0003 others(13): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0003c0007 a0003c0008 a0005c0006 a0005c0015 a0007c0016 a0007c0017 a0007c0024 a0011c0018 a0012c0019 a0017c0031 a0020c0032 a0021c0030	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(14): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0005t0001 a0003c0007t0001 a0003c0008t0001 a0005c0006t0001 a0005c0015t0001 a0007c0016t0001 a0007c0017t0001 a0007c0024t0002 a0011c0018t0001 a0012c0019t0001 a0017c0031t0001 a0020c0032t0001 a0021c0030t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 others(56): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0002t0001g0041 a0001c0002t0001g0069 a0001c0002t0001g0133 a0001c0002t0002g0002 a0002c0003t0001g0026 a0002c0003t0001g0030 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0064 a0002c0003t0001g0091 a0002c0003t0001g0092 a0002c0003t0001g0093 a0002c0003t0001g0098 a0002c0003t0001g0099 a0002c0003t0001g0113 a0002c0003t0001g0138 a0002c0003t0001g0148 a0002c0003t0001g0154 a0002c0003t0001g0158 a0002c0003t0001g0161 a0002c0003t0001g0171 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0183 a0002c0005t0001g0014 a0002c0005t0001g0032 a0002c0005t0001g0107 a0002c0005t0001g0114 a0002c0005t0001g0167 a0002c0005t0001g0168 a0003c0007t0001g0055 a0003c0007t0001g0108 a0003c0007t0001g0184 a0003c0008t0001g0106 a0003c0008t0001g0190 a0005c0006t0001g0019 a0005c0006t0001g0081 a0005c0006t0001g0082 a0005c0006t0001g0083 a0005c0006t0001g0085 a0005c0006t0001g0086 a0005c0015t0001g0037 a0007c0016t0001g0005 a0007c0016t0001g0033 a0007c0016t0001g0135 a0007c0017t0001g0105 a0007c0017t0001g0118 a0007c0024t0002g0073 a0011c0018t0001g0046 a0012c0019t0001g0122 a0012c0019t0001g0159 a0017c0031t0001g0110 a0020c0032t0001g0059 a0021c0030t0001g0160	59	190	0.3105	-43	c.591 others(60): Show c.591+3220_591+3262delACAAGTTTACCTATATAACAAACCTGCA CATGTACCCCTGAAC		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	8/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX4_chr3_125441650_125525202	125475139	AGTCATAT others(36): Show AGTCATATAACCTTGATCTGTCTCAACTGACATTTAATTTTAAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	360	0.0028	-43	c.788 others(60): Show c.788+1513_788+1555delATTAAAATTAAATGTCAGTTGAGACAGA TCAAGGTTATATGAC		SNX4	ENSG00000114520.11	transcript	ENST00000251775.9	protein_coding	8/13						chr3	TogoVar
SNX9_chr6_157818246_157950077	157827471	AGTTTATA others(36): Show AGTTTATATAATATATAAACTTATAGTTTATATAATATATAAAC	A A	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0273 a0001c0003t0003g0273	1	302	0.0033	-43	c.12+ others(58): Show c.12+4026_12+4068delGTTTATATAATATATAAACTTATAGTTTAT ATAATATATAAAC		SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17						chr6	TogoVar
SORCS2_chr4_7187538_7747827	7449196	TCCCTCCC others(36): Show TCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0001 a0001c0048t0001	a0001c0048t0001g0146 a0001c0048t0001g0146	1	168	0.0060	-43	c.548 others(62): Show c.548+52842_548+52884delCCCTCCCTTCCTCCCTCTCTTCCTCC CTCCCTCCCTCCCTCCC		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26						chr4	TogoVar
SORCS2_chr4_7187538_7747827	7706404	TGCCTGGA others(36): Show TGCCTGGACAGAGATGAGGCTGGGCTCTGTCTGGGCAGGGATGA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0055 a0003c0012t0055	a0003c0012t0055g0033 a0003c0012t0055g0033	1	168	0.0060	-43	c.186 others(62): Show c.1868+2122_1868+2164delCCTGGACAGAGATGAGGCTGGGCTCT GTCTGGGCAGGGATGAG		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	14/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SOX18_chr20_64042582_64054639	64042874	CGGGGGTC others(36): Show CGGGGGTCGTGGGGGACGGGGCGGGGGTCGTGGGGGACGGGACG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	352	0.0028	-43	c.52 others(54): Show c.5249_*5291delCGTCCCGTCCCCCACGACCCCCGCCCCGTCCCCC ACGACCCCC		SOX18	ENSG00000203883.7	transcript	ENST00000340356.9	protein_coding					4707		chr20	TogoVar
SOX6_chr11_15961449_16361546	16132302	GGAAGGAA others(36): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	218	0.0046	-43	c.778 others(62): Show c.778-20422_778-20380delTTTCTTTTTTCTTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTC		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15						chr11	TogoVar
SOX6_chr11_15961449_16361546	16132306	GGAAGGAA others(36): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	218	0.0046	-43	c.778 others(62): Show c.778-20426_778-20384delTTTCTTTCTTTTTTCTTTCCTTCCTT CCTTCCTTCCTTCCTTC		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15						chr11	TogoVar
SPATA48_chr7_50090883_50164256	50158144	GGGTGAGG others(36): Show GGGTGAGGCCCAGGACCCCCACCCATGTCTTCTCCCAGCCCCTA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0292 a0003c0003t0001g0292	1	328	0.0031	-43	c.119 others(60): Show c.1194-884_1194-842delCCACCCATGTCTTCTCCCAGCCCCTAGG TGAGGCCCAGGACCC		SPATA48	ENSG00000164500.7	transcript	ENST00000297001.7	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
SPATA6_chr1_48290373_48477204	48382600	ACCTCCCT others(36): Show ACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCCCCCCCCG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00558.hp2 others(52): Show HG00323.hp1 HG00544.hp1 HG00558.hp2 HG01069.hp2 HG01071.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01981.hp2 HG02015.hp2 HG02040.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp2 HG02148.hp1 HG02258.hp2 HG02273.hp1 HG02300.hp1 HG02523.hp2 HG02602.hp2 HG03017.hp1 HG04204.hp1 NA18948.hp2 NA18950.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18987.hp1 NA18990.hp1 NA18999.hp2 NA19003.hp1 NA19010.hp1 NA19056.hp2 NA19058.hp2 NA19064.hp2 NA19065.hp1 NA19068.hp2 NA19070.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19091.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0006 a0002c0002 a0005c0006	a0002c0002t0001 a0002c0002t0005 a0005c0006t0001 a0002c0002t0001 a0002c0002t0005 a0005c0006t0001	a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0005 others(52): Show a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0087 a0002c0002t0005g0015 a0002c0002t0005g0021 a0002c0002t0005g0022 a0002c0002t0005g0047 a0002c0002t0005g0048 a0005c0006t0001g0032	55	322	0.1708	-43	c.909 others(60): Show c.909+2666_909+2708delCGGGGGGGGGGGGGTCGGCCAGCCGCCC CGTCCGGGAGGGAGG		SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12						chr1	TogoVar
SPDYA_chr2_28805834_28855610	28819830	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	338	0.0030	-43	c.294 others(58): Show c.294+726_294+768delAAAAAAAAAAAAAAAAAAATATATATATAT ATATATATATATA		SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPIDR_chr8_47255938_47741306	47679544	CCCATCCC others(36): Show CCCATCCCCTCCAGTGCTGGCCTGTGCCATGTGCCCGCCTGCCT	C C	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	216	0.0046	-43	c.168 others(62): Show c.1685+5680_1685+5722delCCGCCTGCCTCCATCCCCTCCAGTGC TGGCCTGTGCCATGTGC		SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	11/19					INFO_REALIGN_3_PRIME	chr8	TogoVar
SPPL2B_chr19_2323684_2360095	2348567	CTCTCTCC others(36): Show CTCTCTCCACACAGACTCATGCACTCTCATTCGCCTGATTCCAT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01978.hp1 others(1): Show HG01257.hp2 HG01258.hp1 HG01978.hp1 HG02738.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0006 a0001c0001 a0001c0003 a0003c0006	a0001c0001t0002 a0001c0003t0001 a0003c0006t0001 a0001c0001t0002 a0001c0003t0001 a0003c0006t0001	a0001c0001t0002g0049 a0001c0003t0001g0200 a0003c0006t0001g0084 a0001c0001t0002g0049 a0001c0003t0001g0200 a0003c0006t0001g0084	4	414	0.0097	-43	c.135 others(62): Show c.1355-2860_1355-2818delCACACAGACTCATGCACTCTCATTCG CCTGATTCCATTCTCTC		SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
SRRM3_chr7_76196896_76292287	76227020	ACAGCCAA others(36): Show ACAGCCAATCAGTGGTAGGGTAAAGACTTCCCATGTGCTGCTCT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00408.hp2 others(141): Show HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG01070.hp2 HG01106.hp1 HG01109.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18945.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18971.hp2 NA18975.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20905.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0011 a0002c0002 others(5): Show a0001c0001 a0001c0011 a0002c0002 a0002c0007 a0002c0010 a0002c0016 a0002c0017 a0011c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 a0001c0011t0001 a0001c0011t0011 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0012 a0002c0007t0001 a0002c0010t0001 a0002c0016t0001 a0002c0017t0003 a0011c0015t0001	a0001c0001t0001g0054 a0001c0001t0001g0071 a0001c0001t0001g0072 others(141): Show a0001c0001t0001g0054 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0112 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0278 a0001c0001t0001g0293 a0001c0001t0001g0304 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0003g0177 a0001c0001t0003g0185 a0001c0001t0010g0158 a0001c0001t0013g0171 a0001c0011t0001g0149 a0001c0011t0011g0008 a0002c0002t0001g0154 a0002c0002t0001g0270 a0002c0002t0001g0299 a0002c0002t0001g0317 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0003g0015 a0002c0002t0003g0205 a0002c0002t0003g0288 a0002c0002t0003g0289 a0002c0002t0003g0290 a0002c0002t0003g0291 a0002c0002t0003g0292 a0002c0002t0003g0294 a0002c0002t0003g0295 a0002c0002t0003g0297 a0002c0002t0003g0298 a0002c0002t0003g0300 a0002c0002t0003g0301 a0002c0002t0003g0302 a0002c0002t0003g0303 a0002c0002t0003g0305 a0002c0002t0003g0306 a0002c0002t0003g0307 a0002c0002t0003g0308 a0002c0002t0003g0309 a0002c0002t0003g0310 a0002c0002t0003g0311 a0002c0002t0003g0312 a0002c0002t0003g0314 a0002c0002t0003g0315 a0002c0002t0003g0318 a0002c0002t0004g0241 a0002c0002t0004g0242 a0002c0002t0004g0243 a0002c0002t0012g0296 a0002c0007t0001g0268 a0002c0007t0001g0269 a0002c0007t0001g0272 a0002c0010t0001g0267 a0002c0010t0001g0271 a0002c0016t0001g0316 a0002c0017t0003g0324 a0011c0015t0001g0181	144	324	0.4444	-43	c.-39 others(60): Show c.-39-7835_-39-7793delCAGCCAATCAGTGGTAGGGTAAAGACTT CCCATGTGCTGCTCT		SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
SSR2_chr1_156004048_156025951	156016768	GGGGCAGA others(36): Show GGGGCAGATTTCTCCCTTGCCATTCTAATGATATGAGTTCTCAC	G G	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	356	0.0028	-43	c.254 others(60): Show c.254+1459_254+1501delGTGAGAACTCATATCATTAGAATGGCAA GGGAGAAATCTGCCC		SSR2	ENSG00000163479.14	transcript	ENST00000295702.9	protein_coding	3/5						chr1	TogoVar
STAMBP_chr2_73823961_73872168	73834225	AAAAAAAA others(36): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03486.hp1 HG03453.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0070 a0001c0002t0005g0071 a0001c0002t0005g0070 a0001c0002t0005g0071	2	368	0.0054	-43	c.203 others(60): Show c.203+3168_203+3210delAAAAAAAAAAATATATATATATATATAT ATATATATATATATA		STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
STAMBP_chr2_73823961_73872168	73834227	AAAAAAAA others(36): Show AAAAAAAAAAATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01243.hp2 others(3): Show HG01167.hp1 HG01169.hp1 HG01243.hp2 HG02258.hp1 HG02280.hp1 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0003 a0001c0002t0005g0066 a0001c0002t0005g0067 others(1): Show a0001c0002t0005g0003 a0001c0002t0005g0066 a0001c0002t0005g0067 a0001c0002t0005g0072	6	368	0.0163	-43	c.203 others(60): Show c.203+3170_203+3212delAAAAAAAAATATATATATATATATATAT ATATATATATATATA		STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
STARD8_chrX_68642666_68730836	68643169	GTATATAT others(36): Show GTATATATTATATATATATATATATATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0169 a0007c0011t0001g0170 a0007c0011t0001g0169 a0007c0011t0001g0170	2	199	0.0101	-43	c.-47 others(54): Show c.-4713_-4671delTATATATTATATATATATATATATATATATATAT ATATATATA		STARD8	ENSG00000130052.14	transcript	ENST00000374599.8	protein_coding					4496		chrX	TogoVar
STARD9_chr15_42570606_42725998	42601491	GCTGCCCC others(36): Show GCTGCCCCCCACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03486.hp2 HG02895.hp2 HG02897.hp2 HG03486.hp2	a0002 a0010 a0002 a0010	a0002c0056 a0010c0014 a0002c0056 a0010c0014	a0002c0056t0017 a0010c0014t0008 a0002c0056t0017 a0010c0014t0008	a0002c0056t0017g0020 a0010c0014t0008g0021 a0010c0014t0008g0022 a0002c0056t0017g0020 a0010c0014t0008g0021 a0010c0014t0008g0022	3	210	0.0143	-43	c.234 others(62): Show c.234+15855_234+15897delCTGCCCCCCACCTCCCGGATGGGGCG GCTGGCCGGGCGGGGGC		STARD9	ENSG00000159433.12	transcript	ENST00000290607.12	protein_coding	3/32						chr15	TogoVar
STIL_chr1_47245139_47319147	47245158	TCCTGCTT others(36): Show TCCTGCTTGTTAACTATAAGTGTATGATTTTAGCCCAGTTATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0242 a0002c0001t0005g0242	1	392	0.0026	-43	c.59 others(54): Show c.5935_*5977delGTATAACTGGGCTAAAATCATACACTTATAGTTA ACAAGCAGG		STIL	ENSG00000123473.17	transcript	ENST00000371877.8	protein_coding					4980		chr1	TogoVar
STIL_chr1_47245139_47319147	47292571	GAGGTAAT others(36): Show GAGGTAATGATCTCCAAGGTATAATTTATACAGAAAAAAGCAAC	G G	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0256 a0002c0001t0002g0256	1	392	0.0026	-43	c.872 others(58): Show c.872+844_872+886delGTTGCTTTTTTCTGTATAAATTATACCTTG GAGATCATTACCT		STIL	ENSG00000123473.17	transcript	ENST00000371877.8	protein_coding	8/16						chr1	TogoVar
STIM1_chr11_3850664_4098208	3895639	TTTCTTTC others(36): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0009 a0003c0005t0009	a0003c0005t0009g0012 a0003c0005t0009g0012	1	300	0.0033	-43	c.139 others(62): Show c.139+39231_139+39273delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCCTTCCTTC		STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12						chr11	TogoVar
STK32A_chr5_147230026_147392855	147260544	GCCTGTCC others(36): Show GCCTGTCCTCGAAGGCTCAACTCCTCAAACCAAGGGGTGTCTTC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp2 HG02647.hp1 others(6): Show HG02258.hp1 HG02486.hp2 HG02647.hp1 HG02717.hp2 HG02922.hp1 HG03041.hp1 HG03139.hp2 HG03453.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0007	a0001c0001t0011g0075 a0001c0001t0011g0076 a0001c0002t0001g0175 others(6): Show a0001c0001t0011g0075 a0001c0001t0011g0076 a0001c0002t0001g0175 a0001c0002t0001g0178 a0001c0002t0002g0174 a0001c0002t0006g0172 a0001c0002t0006g0177 a0001c0002t0007g0173 a0001c0002t0007g0176	9	316	0.0285	-43	c.53- others(60): Show c.53-17571_53-17529delCGAAGGCTCAACTCCTCAAACCAAGGGG TGTCTTCCCTGTCCT		STK32A	ENSG00000169302.16	transcript	ENST00000397936.8	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
STK32C_chr10_132202492_132312950	132203674	TGCTCAGC others(36): Show TGCTCAGCCCCTCATGCCCCATCTCTGGCCCCACAGCTGCCCAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00621.hp2 others(41): Show HG00099.hp1 HG00423.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02523.hp2 HG03098.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp2 NA18939.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18954.hp2 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18970.hp1 NA18970.hp2 NA18986.hp1 NA18988.hp1 NA18993.hp2 NA18998.hp2 NA19010.hp1 NA19054.hp2 NA19065.hp2 NA19068.hp2 NA19079.hp1 NA19080.hp1 NA19085.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0010 a0001c0011	a0001c0001t0002 a0001c0002t0002 a0001c0005t0002 others(3): Show a0001c0001t0002 a0001c0002t0002 a0001c0005t0002 a0001c0008t0002 a0001c0010t0002 a0001c0011t0019	a0001c0001t0002g0033 a0001c0001t0002g0121 a0001c0001t0002g0123 others(41): Show a0001c0001t0002g0033 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0137 a0001c0001t0002g0141 a0001c0001t0002g0148 a0001c0001t0002g0167 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0212 a0001c0001t0002g0216 a0001c0001t0002g0221 a0001c0001t0002g0228 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0266 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0315 a0001c0002t0002g0098 a0001c0002t0002g0101 a0001c0002t0002g0120 a0001c0002t0002g0122 a0001c0002t0002g0127 a0001c0002t0002g0139 a0001c0002t0002g0150 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0182 a0001c0002t0002g0192 a0001c0002t0002g0217 a0001c0002t0002g0223 a0001c0002t0002g0249 a0001c0002t0002g0291 a0001c0002t0002g0317 a0001c0005t0002g0231 a0001c0008t0002g0215 a0001c0008t0002g0267 a0001c0008t0002g0319 a0001c0010t0002g0076 a0001c0010t0002g0126 a0001c0010t0002g0279 a0001c0011t0019g0196	44	368	0.1196	-43	c.42 others(54): Show c.4293_*4335delCTGGGCAGCTGTGGGGCCAGAGATGGGGCATGAG GGGCTGAGC		STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding					3817		chr10	TogoVar
STON1_chr2_48525154_48603513	48564437	CTTCTTCT others(36): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0273 a0001c0003t0002g0273	1	376	0.0027	-43	c.-47 others(62): Show c.-47-16105_-47-16063delTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTT		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STOX2_chr4_183900307_184028526	183932335	CAGTATAT others(36): Show CAGTATATGTATGTATACATACAGTATATGTATGTATACATACA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp2 HG00741.hp1 others(15): Show HG00323.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01109.hp2 HG01255.hp2 HG01358.hp1 HG01361.hp1 HG01934.hp1 HG02602.hp1 HG03225.hp1 HG03688.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp1 NA18980.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0031 others(7): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0031 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0068 a0001c0002t0080 a0001c0002t0094	a0001c0001t0001g0047 a0001c0001t0001g0135 a0001c0001t0001g0150 others(15): Show a0001c0001t0001g0047 a0001c0001t0001g0135 a0001c0001t0001g0150 a0001c0001t0001g0226 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0006g0057 a0001c0001t0031g0216 a0001c0002t0001g0175 a0001c0002t0002g0075 a0001c0002t0002g0139 a0001c0002t0002g0149 a0001c0002t0003g0097 a0001c0002t0003g0156 a0001c0002t0007g0105 a0001c0002t0068g0268 a0001c0002t0080g0224 a0001c0002t0094g0222	18	318	0.0566	-43	c.166 others(62): Show c.166+25380_166+25422delAGTATATGTATGTATACATACAGTAT ATGTATGTATACATACA		STOX2	ENSG00000173320.12	transcript	ENST00000308497.9	protein_coding	1/3						chr4	TogoVar
SYT1_chr12_78859774_79457008	78931200	AAAGAAAG others(36): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0015 a0001c0002t0012g0015	1	62	0.0161	-43	c.-21 others(64): Show c.-216-46595_-216-46553delAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAGGAAG		SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr12	TogoVar
SYT3_chr19_50616977_50644881	50619906	ATTATTAT others(36): Show ATTATTATTATTATTATTATTATTATTATTATACCTGGATAATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00741.hp1 others(57): Show HG00408.hp2 HG00544.hp1 HG00741.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01257.hp1 HG01258.hp1 HG01516.hp1 HG01516.hp2 HG01981.hp1 HG02074.hp2 HG02083.hp2 HG02155.hp1 HG02647.hp1 HG02723.hp2 HG02738.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03942.hp1 HG04115.hp2 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18950.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18962.hp2 NA18969.hp1 NA18970.hp2 NA18972.hp1 NA18990.hp2 NA19005.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19088.hp2 NA20129.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0002c0006 a0003c0015	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0003 a0001c0003t0015 a0001c0004t0001 a0001c0004t0002 a0001c0008t0001 a0001c0009t0003 a0002c0006t0001 a0003c0015t0003	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(43): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0035 a0001c0001t0001g0113 a0001c0001t0001g0120 a0001c0001t0001g0135 a0001c0001t0001g0176 a0001c0001t0001g0196 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0002g0104 a0001c0003t0001g0115 a0001c0003t0001g0157 a0001c0003t0003g0022 a0001c0003t0003g0023 a0001c0003t0003g0049 a0001c0003t0003g0233 a0001c0003t0003g0234 a0001c0003t0003g0236 a0001c0003t0003g0237 a0001c0003t0003g0238 a0001c0003t0003g0239 a0001c0003t0003g0240 a0001c0003t0003g0241 a0001c0003t0003g0243 a0001c0003t0003g0245 a0001c0003t0003g0246 a0001c0003t0003g0247 a0001c0003t0003g0248 a0001c0003t0003g0249 a0001c0003t0003g0250 a0001c0003t0003g0251 a0001c0003t0003g0256 a0001c0003t0015g0244 a0001c0004t0001g0147 a0001c0004t0001g0191 a0001c0004t0001g0210 a0001c0004t0002g0072 a0001c0004t0002g0100 a0001c0008t0001g0163 a0001c0009t0003g0252 a0002c0006t0001g0018 a0003c0015t0003g0254	60	388	0.1546	-43	c.25 others(54): Show c.2536_*2578delAATTATCCAGGTATAATAATAATAATAATAATAA TAATAATAA		SYT3	ENSG00000213023.11	transcript	ENST00000600079.6	protein_coding					2070		chr19	TogoVar
SYT9_chr11_7246904_7474043	7432563	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAAAATATATATACATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03540.hp1 HG02976.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0009 a0001c0001t0004 a0001c0002t0009	a0001c0001t0004g0129 a0001c0002t0009g0060 a0001c0001t0004g0129 a0001c0002t0009g0060	2	272	0.0074	-43	c.146 others(64): Show c.1467+11930_1467+11972delAAAAAAAAAAAAAAAAAAATATAT ATACATATATATATATATA		SYT9	ENSG00000170743.17	transcript	ENST00000318881.11	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
SYTL3_chr6_158645054_158769871	158763443	ACTGTCTG others(36): Show ACTGTCTGGGATCAGGCCCTCTTTGGAATGAACGACCGCTTGCT	A A	frameshift_variant frameshift_variant	HIGH	HG04184.hp2 HG04184.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0001 a0009c0015t0001	a0009c0015t0001g0130 a0009c0015t0001g0130	1	292	0.0034	-43	c.165 others(52): Show c.1658_1700delCTGTCTGGGATCAGGCCCTCTTTGGAATGAACGACC GCTTGCT	p.Thr others(5): Show p.Thr553fs	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	17/18	2409/2851	1658/1833	553/610			chr6	TogoVar
TACR2_chr10_69398903_69421918	69409839	ACGTATAC others(36): Show ACGTATACGTATATGTATATGTATATGTATATATATATATATAC	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0058 a0004c0004t0002g0058	1	382	0.0026	-43	c.588 others(58): Show c.588-807_588-765delGTATATATATATATATACATATACATATAC ATATACGTATACG		TACR2	ENSG00000075073.16	transcript	ENST00000373306.5	protein_coding	2/4						chr10	TogoVar
TAFA5_chr22_48484553_48756932	48742157	CCCCCTCA others(36): Show CCCCCTCATCCTTCACCAGGCACAGCCCTGCCCCACCCCACAGG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 NA19030.hp1 HG01109.hp2 HG01884.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0032 a0001c0001t0002 a0001c0001t0012 a0001c0001t0032	a0001c0001t0002g0096 a0001c0001t0012g0192 a0001c0001t0032g0033 a0001c0001t0002g0096 a0001c0001t0012g0192 a0001c0001t0032g0033	3	258	0.0116	-43	c.391 others(60): Show c.391-7614_391-7572delCCCTGCCCCACCCCACAGGCCCCTCATC CTTCACCAGGCACAG		TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D1_chr4_37886084_38144173	38143829	TAACTTAG others(36): Show TAACTTAGCATTAAACTGCGAGGAGGAATGAGTTGGTGAAATGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0013 a0003c0006t0013	a0003c0006t0013g0276 a0003c0006t0013g0276	1	310	0.0032	-43	c.64 others(54): Show c.6495_*6537delAACTTAGCATTAAACTGCGAGGAGGAATGAGTTG GTGAAATGG		TBC1D1	ENSG00000065882.18	transcript	ENST00000698857.1	protein_coding					4657		chr4	TogoVar

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Search Results (Total: 10000 hits)