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
PLEKHG4B_chr5_87168_194966	166335	CTCTGACG others(161): Show CTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACA GTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAG CTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGG GCGGGGCTCACAGTAATCT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0036 a0036	a0036c0075 a0036c0075	a0036c0075t0061 a0036c0075t0061	a0036c0075t0061g0178 a0036c0075t0061g0178	1	210	0.0048	-168	c.347 others(19): Show c.3476+2801_3477-2824del		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
PRDM15_chr21_41793225_41884344	41806530	ACCATCAC others(161): Show ACCATCACTACCACCAACATCACCACCATCACCATCACCATACCACCACC ATCACCACCACCACCATTACTACCACCACCATCATCACCACCATCATCAC CACCACCACCATCACCACCACCATCACCACCACCACCATCACCATCACCA CCACCATCACCACCACCAC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02280.hp1 HG02451.hp2 others(5): Show HG00741.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp2 HG02615.hp2 HG02809.hp2 HG02896.hp2 HG06807.hp2	a0001 a0005 a0001 a0005	a0001c0009 a0001c0016 a0001c0030 others(2): Show a0001c0009 a0001c0016 a0001c0030 a0001c0058 a0005c0042	a0001c0009t0008 a0001c0016t0008 a0001c0030t0008 others(2): Show a0001c0009t0008 a0001c0016t0008 a0001c0030t0008 a0001c0058t0042 a0005c0042t0008	a0001c0009t0008g0296 a0001c0016t0008g0040 a0001c0016t0008g0052 others(5): Show a0001c0009t0008g0296 a0001c0016t0008g0040 a0001c0016t0008g0052 a0001c0016t0008g0058 a0001c0016t0008g0062 a0001c0030t0008g0167 a0001c0058t0042g0068 a0005c0042t0008g0165	8	406	0.0197	-168	c.265 others(19): Show c.2653-2084_2653-1917del		PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23						chr21	TogoVar
PRDM16_chr1_3064203_3443621	3165716	GACAGTGA others(161): Show GACAGTGACTCACCTGGGCTCAGGGACAGTGACTCACCTGGGCCCAGGGA CAGGGACTCACCAGGGCTCAGGGACAGGGACTCACCAGGGCTCAGGCACA GGGACTCACCTGGGCTCAGGGACAGGGACTCACCAGGGCTCAGGGACAGG GACTCACCAGGGCTCAGGC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00423.hp2 others(43): Show HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00639.hp1 HG01069.hp1 HG01070.hp2 HG01081.hp2 HG01123.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01361.hp1 HG01496.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG02004.hp2 HG02056.hp2 HG02109.hp1 HG02132.hp2 HG02273.hp2 HG02280.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02647.hp1 HG02965.hp1 HG02965.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03516.hp1 HG03654.hp2 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA19043.hp2 NA19074.hp2 NA19080.hp1 NA19091.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0009 a0001c0014 a0001c0021 a0001c0031 a0002c0003 a0002c0007 a0003c0005 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0028 a0001c0001t0058 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0016 a0001c0002t0017 a0001c0002t0036 a0001c0002t0084 a0001c0004t0007 a0001c0004t0010 a0001c0004t0081 a0001c0006t0011 a0001c0006t0013 a0001c0009t0005 a0001c0014t0030 a0001c0014t0068 a0001c0021t0049 a0001c0031t0037 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0006 a0002c0003t0013 a0002c0003t0051 a0002c0007t0019 a0003c0005t0009 a0003c0011t0001	a0001c0001t0001g0119 a0001c0001t0001g0183 a0001c0001t0001g0190 others(43): Show a0001c0001t0001g0119 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0002g0086 a0001c0001t0002g0176 a0001c0001t0004g0046 a0001c0001t0005g0184 a0001c0001t0006g0155 a0001c0001t0007g0054 a0001c0001t0011g0022 a0001c0001t0012g0041 a0001c0001t0014g0132 a0001c0001t0016g0035 a0001c0001t0018g0164 a0001c0001t0022g0061 a0001c0001t0023g0112 a0001c0001t0028g0111 a0001c0001t0058g0043 a0001c0002t0001g0095 a0001c0002t0001g0116 a0001c0002t0002g0091 a0001c0002t0003g0147 a0001c0002t0016g0195 a0001c0002t0017g0177 a0001c0002t0036g0157 a0001c0002t0084g0138 a0001c0004t0007g0063 a0001c0004t0010g0032 a0001c0004t0081g0031 a0001c0006t0011g0065 a0001c0006t0013g0133 a0001c0009t0005g0200 a0001c0014t0030g0178 a0001c0014t0068g0159 a0001c0021t0049g0023 a0001c0031t0037g0156 a0002c0003t0001g0018 a0002c0003t0002g0102 a0002c0003t0004g0123 a0002c0003t0006g0050 a0002c0003t0013g0137 a0002c0003t0051g0079 a0002c0007t0019g0020 a0003c0005t0009g0136 a0003c0011t0001g0056 a0003c0011t0001g0057	46	210	0.2191	-168	c.38- others(17): Show c.38-20404_38-20237del		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM9_chr5_23502609_23533093	23527058	GACACACA others(161): Show GACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTT AGCTGGCAGTCAGTCCTCCTCACTCACCAGAGGACACACACAGGGGAGAA GCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGCTGGCAGTCAGTCC TCCTCACTCACCAGAGGAC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18993.hp2 NA18993.hp2	a0030 a0030	a0030c0032 a0030c0032	a0030c0032t0002 a0030c0032t0002	a0030c0032t0002g0001 a0030c0032t0002g0001	1	424	0.0024	-168	c.202 others(9): Show c.2023_2190del	p.Trp others(13): Show p.Trp675_Ser730del	PRDM9	ENSG00000164256.11	transcript	ENST00000296682.4	protein_coding	11/11	2211/3193	2023/2685	675/894		INFO_REALIGN_3_PRIME	chr5	TogoVar
PRKAG2_chr7_151551127_151882115	151874312	GTATATGA others(161): Show GTATATGATGTATATGTATATGATGTATATGTATATGTATATGATGTATA TGTATATGTATATGATGTATATGTATATGATGTATATGTATATGTATATG ATGTATATGTATATGTATATGATGTATATGTATATGTATATGATGTATAT GTATATGTATATGATGTAT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01081.hp2 HG02055.hp2 others(12): Show HG01069.hp1 HG01081.hp2 HG02055.hp2 HG02258.hp1 HG02615.hp1 HG02615.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG03130.hp2 HG03516.hp2 NA18949.hp2 NA18964.hp1 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0025	a0001c0001t0002g0124 a0001c0001t0004g0212 a0001c0001t0004g0226 others(12): Show a0001c0001t0002g0124 a0001c0001t0004g0212 a0001c0001t0004g0226 a0001c0001t0005g0227 a0001c0001t0006g0140 a0001c0001t0008g0123 a0001c0001t0008g0135 a0001c0001t0008g0136 a0001c0001t0009g0002 a0001c0001t0009g0005 a0001c0001t0011g0237 a0001c0001t0017g0001 a0001c0001t0018g0007 a0001c0001t0020g0006 a0001c0001t0025g0125	15	252	0.0595	-168	c.114 others(17): Show c.114+2027_114+2194del		PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15						chr7	TogoVar
PRKCA_chr17_66297613_66815743	66798489	CGGTGGTG others(161): Show CGGTGGTGGTGGTGGTGGTGACGGTGGTGACGGTGGTGGTGATGGTGGTG ACGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGGTGGTGGTGGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	178	0.0056	-168	c.185 others(19): Show c.1855-5367_1855-5200del		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66799166	GTGGTGGT others(161): Show GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGATGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0083 a0001c0002t0006g0083	1	178	0.0056	-168	c.185 others(19): Show c.1855-4695_1855-4528del		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKG1_chr10_51069487_52303350	51858192	AATATATA others(161): Show AATATATATTATATATATACATATTATACATATATATAATATATATTATA TATAATACATATTATACATATATATAATATTATACATATGTATAATTATA CATATGTATAATATATATATGTATAATATGTATTATATATAATATATATA TTATATAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	64	0.0156	-168	c.699 others(19): Show c.699-49314_699-49147del		PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	4/17						chr10	TogoVar
PROZ_chr13_113153648_113177386	113161844	CCCCATCC others(161): Show CCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCATCCTCCTCCTG CTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTC CTCGTCCCTGCCACCTCCT	C C	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	378	0.0027	-168	c.259 others(15): Show c.259+874_260-996del		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162474	CCACATCC others(161): Show CCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTG CTCAGGTCCCCGTCCCTGCCACGTCCCCTCATCCTCCTCCTGCTCAGGTC CCCGTCCCTGCCACCTCCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 NA18946.hp1 others(4): Show HG00408.hp1 HG00438.hp2 NA18946.hp1 NA18963.hp2 NA18980.hp1 NA18993.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0073 a0001c0001t0001g0006 a0001c0001t0001g0073	7	378	0.0185	-168	c.260 others(15): Show c.260-407_260-240del		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
PRPF31_chr19_54110754_54136713	54130007	TGGCCGGG others(161): Show TGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGA AATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAA GGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTA GGAGAAGGCAGAAATGCCA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	227	0.0044	-168	c.137 others(17): Show c.1374+697_1374+864del		PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding	13/13					INFO_REALIGN_3_PRIME	chr19	TogoVar
PTDSS2_chr11_445279_496399	482976	AGTTCTGT others(161): Show AGTTCTGTGAGTTTTTCGTAGATCTCCCTACCGAGTGGAGAAGGTTCTGT GAGTTTTTCGTAGATCTCCCTACCGAGTGGAGAAGGTTCTGTGAGTTTTT CGTAGATCTCCCTACCGAGTGGAGAAGGTTCTGTGAGTTTTTCGTAGATC TCCCTACCGAGTGGAGAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(110): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG01993.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02132.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03688.hp2 HG03834.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18945.hp1 NA18946.hp1 NA18951.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18978.hp1 NA18978.hp2 NA18984.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19064.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0017 a0001c0002t0010 a0001c0010t0002 a0002c0003t0005 a0002c0003t0006 a0002c0003t0008	a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 others(103): Show a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0118 a0001c0001t0002g0199 a0001c0001t0002g0305 a0001c0001t0003g0007 a0001c0001t0003g0032 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0073 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0087 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0112 a0001c0001t0006g0189 a0001c0001t0006g0190 a0001c0001t0007g0054 a0001c0001t0007g0059 a0001c0001t0007g0061 a0001c0001t0007g0063 a0001c0001t0009g0029 a0001c0001t0009g0055 a0001c0001t0009g0058 a0001c0001t0010g0050 a0001c0001t0016g0104 a0001c0001t0017g0057 a0001c0002t0010g0208 a0001c0010t0002g0080 a0002c0003t0005g0017 a0002c0003t0005g0018 a0002c0003t0005g0188 a0002c0003t0005g0191 a0002c0003t0005g0192 a0002c0003t0005g0193 a0002c0003t0005g0194 a0002c0003t0005g0195 a0002c0003t0005g0197 a0002c0003t0006g0196 a0002c0003t0006g0198 a0002c0003t0008g0172 a0002c0003t0008g0173 a0002c0003t0008g0174 a0002c0003t0008g0175	113	346	0.3266	-168	c.436 others(17): Show c.436-3758_436-3591del		PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
RBFOX1_chr16_6014024_7718340	6780102	TATATATT others(161): Show TATATATTTATATATATTTATATATATATTTATATATTTATATATATTTA TATATATATTTATATATTTTTATATATTTATATATATATTTATATATTTT TATATATTTATATATATTTATATATATATTTATATATATTTACATATATA TTTATATATATATTTATAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp2 HG01099.hp1 others(1): Show HG00280.hp2 HG00609.hp2 HG01099.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0035 a0001c0001t0001 a0001c0001t0017 a0001c0001t0035	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0017g0014 others(1): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0017g0014 a0001c0001t0035g0065	4	68	0.0588	-168	c.-16 others(21): Show c.-16+125459_-16+125626del		RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7008792	TCCTCCCT others(161): Show TCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTCACTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTTCCTC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03098.hp2 HG03209.hp1 others(1): Show HG02965.hp1 HG03098.hp2 HG03209.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0018	a0001c0001t0001g0028 a0001c0001t0003g0050 a0001c0001t0009g0036 others(1): Show a0001c0001t0001g0028 a0001c0001t0003g0050 a0001c0001t0009g0036 a0001c0001t0018g0052	4	68	0.0588	-168	c.-15 others(19): Show c.-15-43249_-15-43082del		RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
RIMBP2_chr12_130391133_130721299	130646039	TTCCCTCT others(161): Show TTCCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACTT CCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCC CTCACCACCTGCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCT CACCACTTCCCTCTCCACC	T T	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02451.hp1 HG02148.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0069 a0001c0001t0001g0029 a0001c0001t0001g0069	2	180	0.0111	-168	c.-35 others(21): Show c.-351-17751_-351-17584del		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22						chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646106	TCCACCTC others(161): Show TCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACCTGCCTCTC CACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACTTCCCTCTCCA CCTCCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACT TCCCTCTCCACCTGCCTCA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01496.hp2 HG01081.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0156 a0001c0002t0001g0021 a0001c0002t0001g0156	2	180	0.0111	-168	c.-35 others(21): Show c.-351-17818_-351-17651del		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22						chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646161	CCCTCACC others(161): Show CCCTCACCACCTGCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTCC CTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACTTCCCT CTCCACCTGCCTCACCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCA CCACTTCCCTCTCCACCTG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03710.hp1 HG00642.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0025 a0001c0001 a0001c0025	a0001c0001t0001 a0001c0025t0001 a0001c0001t0001 a0001c0025t0001	a0001c0001t0001g0083 a0001c0025t0001g0071 a0001c0001t0001g0083 a0001c0025t0001g0071	2	180	0.0111	-168	c.-35 others(21): Show c.-351-17873_-351-17706del		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22						chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646178	TCCACCTC others(161): Show TCCACCTCCCTCACCACTTCCCTCTCCACCTCCCTCTCCACCTCCCTCAC CACCTGCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTGCCTCACCA CCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACTTCCCTCTCCACC TGCCTCACCACCTCCCTCA	T T	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0047 a0001c0005t0001g0047	1	180	0.0056	-168	c.-35 others(21): Show c.-351-17890_-351-17723del		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22						chr12	TogoVar
RNF167_chr17_4935268_4950222	4948419	GGCGCTGC others(161): Show GGCGCTGCTGCTGGGGCCGCGGACTGGGCTCGAGCTGCCTCGGCTGGCGG GCGGGGGGAGGCGGAGAGCTCGGGGCACGCGCTGCCGTCCGGACCGCGGC TCCGCTCGCTGTGCAGCAGCCCTCGCACCGCCACTTCCTGCTCCTCCCCC CCCCCGCCCCGCTAGATTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	440	0.0023	-168	c.34 others(11): Show c.3404_*3571del		RNF167	ENSG00000108523.16	transcript	ENST00000262482.11	protein_coding					3198		chr17	TogoVar
SAMD11_chr1_918923_949574	934049	GCGTTACA others(161): Show GCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAG GCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCA GGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGG TGGGCAGGGGAGGCGGCTC	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0178 a0001c0001t0003g0178	1	434	0.0023	-168	c.843 others(17): Show c.843-1695_843-1528del		SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289207	CCGTGTCT others(161): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	290	0.0035	-168	c.166 others(18): Show c.1663-1062_1663-895del		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SH2D1A_chrX_124341563_124378160	124350701	GATAATAT others(161): Show GATAATATATTATATATTGTATATAAGATATAATATATTATATATTGTAT ATAAGATATAATATATTATATATTGTATATAAGATATAATATATTATATA TTGTATATAAGATATAATATATTATATATTGTATATAAGATATAATATAT TATATATTGTATATAAGAT	G G	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	318	0.0031	-168	c.137 others(17): Show c.137+3982_137+4149del		SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding	1/3					INFO_REALIGN_3_PRIME	chrX	TogoVar
SIGIRR_chr11_400716_419999	400899	CCCCGCCC others(161): Show CCCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACCCCC GGCCCCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCGGACC CCGCTCACCCCGGACCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCG CTCACCCCCGCCCCGCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	242	0.0041	-168	c.48 others(11): Show c.4829_*4996del		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					4816		chr11	TogoVar
SIGIRR_chr11_400716_419999	414104	TTCCCCTG others(161): Show TTCCCCTGCACCCTCTCCTCTGCCTACCTTCCCCTGCACCCTCTCCCCTC CCCACCTTTCCCTGCACCCTCTCCCCTGCACACCTTCCCCTGCACCCTCT CCTCTGCCTACCTTCCCCTGCACCCTCTCCCCTCCCCACCTTTCCCTGCA CACCTTCCCCTGCACCCTC	T T	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	242	0.0041	-168	c.-15 others(17): Show c.-154+551_-154+718del		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9						chr11	TogoVar
SMOC2_chr6_168436184_168672992	168614346	GACCTCTT others(161): Show GACCTCTTCATACCTACAGCCAGCACAGGGCCTCTTCATACCTACAGCCA GCACAGGGCCTCTTTATACCTACAGCCAGCACAGGGCCTCTTCACACCTA CAGCCAGCACATGGAGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTT CACACCTACAGCCAGCACA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	180	0.0056	-168	c.907 others(17): Show c.907+6108_907+6275del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12						chr6	TogoVar
SMYD3_chr1_245744347_246512279	245974773	CAGGGAAA others(161): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19240.hp2 HG03098.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0001 a0002c0005t0002 a0001c0002t0001 a0002c0005t0002	a0001c0002t0001g0013 a0002c0005t0002g0106 a0001c0002t0001g0013 a0002c0005t0002g0106	2	150	0.0133	-168	c.532 others(19): Show c.532-45004_532-44837del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245974961	GGCCCAGG others(161): Show GGCCCAGGGAAAGCCATCGTCTCTGGCCTAGGGAAAGCCATCGTCTCTAG CCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTGTA	G G	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0121 a0002c0004t0001g0121	1	150	0.0067	-168	c.532 others(19): Show c.532-45192_532-45025del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245974965	CAGGGAAA others(161): Show CAGGGAAAGCCATCGTCTCTGGCCTAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGA AAGCCATCGTCTGTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0025 a0001c0006t0001g0025	1	150	0.0067	-168	c.532 others(19): Show c.532-45196_532-45029del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975129	AGCCTAGG others(161): Show AGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0124 a0002c0007t0001g0124	1	150	0.0067	-168	c.532 others(19): Show c.532-45360_532-45193del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975465	AGCCTAGG others(161): Show AGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCC TAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02109.hp2 HG03491.hp2 others(1): Show HG00140.hp2 HG02109.hp2 HG03491.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0015 a0001c0002t0001g0033 a0001c0002t0001g0065 others(1): Show a0001c0002t0001g0015 a0001c0002t0001g0033 a0001c0002t0001g0065 a0001c0002t0002g0077	4	150	0.0267	-168	c.532 others(19): Show c.532-45696_532-45529del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975747	GTCTCCGG others(161): Show GTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGT CTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCC GGCCCAGGGAAAGCCATCA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0124 a0002c0007t0001g0124	1	150	0.0067	-168	c.532 others(19): Show c.532-45978_532-45811del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975849	GGCCCAGG others(161): Show GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCATCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCC TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTA GGGAAAGCCATCGTCTCTA	G G	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA18962.hp1 HG03491.hp2 NA18962.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0001 a0002c0004t0001 a0001c0002t0001 a0002c0004t0001	a0001c0002t0001g0033 a0002c0004t0001g0121 a0001c0002t0001g0033 a0002c0004t0001g0121	2	150	0.0133	-168	c.532 others(19): Show c.532-46080_532-45913del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975853	CAGGGAAA others(161): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCATCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCTAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGA AAGCCATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03098.hp2 HG03579.hp1 HG01243.hp2 HG03098.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0002c0003t0002 a0001c0002t0001 a0002c0003t0001 a0002c0003t0002	a0001c0002t0001g0024 a0002c0003t0001g0148 a0002c0003t0002g0147 a0001c0002t0001g0024 a0002c0003t0001g0148 a0002c0003t0002g0147	3	150	0.0200	-168	c.532 others(19): Show c.532-46084_532-45917del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975897	GGCCCAGG others(161): Show GGCCCAGGGAAAGCCATCATCTCTAGCCTAGGGAAAGCCATCGTCTGTAG CCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC TAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTCTA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp2 HG02109.hp1 HG02280.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0002c0005t0001 a0001c0001t0002 a0002c0005t0001	a0001c0001t0002g0023 a0002c0005t0001g0138 a0001c0001t0002g0023 a0002c0005t0001g0138	2	150	0.0133	-168	c.532 others(19): Show c.532-46128_532-45961del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976261	CAGGGAAA others(161): Show CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCA GGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGG GAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGA AAGCCATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	150	0.0067	-168	c.532 others(19): Show c.532-46492_532-46325del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976693	CAGGGAAA others(161): Show CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCAGCCCA GGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTAGCCCAGG GAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGA AAGCCATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	1	150	0.0067	-168	c.532 others(19): Show c.532-46924_532-46757del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976789	CAGGGAAA others(161): Show CAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGA AAGCCATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	150	0.0067	-168	c.532 others(19): Show c.532-47020_532-46853del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976809	AGCCTAGG others(161): Show AGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAG CCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCC TAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0058 a0001c0002t0001g0058	1	150	0.0067	-168	c.532 others(19): Show c.532-47040_532-46873del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976861	TAGGGAAA others(161): Show TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGA AAGCCATCGTCTCTAGCCC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0132 a0002c0007t0001g0132	1	150	0.0067	-168	c.532 others(19): Show c.532-47092_532-46925del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SORCS2_chr4_7187538_7747827	7448947	CCCTCTCT others(161): Show CCCTCTCTCCCTCCCTTCCTGTCTTTTCCCTCTCTCCCTCCCTTCCTCTT TTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTTCCTCCCTCCCTT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0013 a0005c0008t0013	a0005c0008t0013g0155 a0005c0008t0013g0155	1	168	0.0060	-168	c.548 others(19): Show c.548+52597_548+52764del		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SOX5_chr12_23524504_23954670	23837643	ATATATTT others(161): Show ATATATTTATATTTATATAATATATAAGATATATTTATATTTATATAATA TATAAGCTATATTTATATTTATATAATATATAAGCTATATTTATATTTAT ATAATATATAAGCTATATTTATATTTATATAATATATAAGCTATATTTAT ATTTATATAATATATAAGC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA19030.hp2 HG02647.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0084 a0001c0001t0003 a0001c0001t0084	a0001c0001t0003g0208 a0001c0001t0084g0207 a0001c0001t0003g0208 a0001c0001t0084g0207	2	212	0.0094	-168	c.481 others(17): Show c.481+8172_481+8339del		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14						chr12	TogoVar
STAU2_chr8_73415369_73751840	73622125	TTTTTTTT others(161): Show TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTG GAATGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCC CGCCACCTCGCCCGGCTAA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	1	240	0.0042	-168	c.411 others(17): Show c.411-4842_411-4675del		STAU2	ENSG00000040341.18	transcript	ENST00000524300.6	protein_coding	6/14						chr8	TogoVar
SYNPR_chr3_63273308_63621924	63313746	CATATATA others(161): Show CATATATATATCCATATATATATCCATATATATATATCCATATATATATA TCCATATATATATCCATATATATATCCATATATATATCCATATATATATA TCCATATATATATCCATATATATATATCCATATATATATCCATATATATA TATCCATATATATATCCAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02717.hp1 HG02896.hp2 others(1): Show HG02622.hp1 HG02717.hp1 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0016 a0001c0001t0001g0158 a0001c0001t0001g0173 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0158 a0001c0001t0001g0173 a0001c0001t0005g0172	4	246	0.0163	-168	c.84+ others(17): Show c.84+35015_84+35182del		SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
TBC1D22A_chr22_46757650_47180693	47070011	CCCCTGTT others(161): Show CCCCTGTTGTTTGGTTGGAGCGGAGCTGACCTGATGGTTCCAGGCTGTTC CCTGTTGTTTGGTTGGACGCTGTCCCCTGTTGTTTGGTTGGAGCGGAGCT GACTTGATGGTTCGAGACTGTTCCCTGTTGTTTGGTTGGAGCAGGGCTGA CCTGACGGTCCTGGCTGTT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0045 a0001c0001t0004g0045	1	112	0.0089	-168	c.132 others(21): Show c.1329+32832_1329+32999del		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
TBXAS1_chr7_139824264_140025293	139950658	TCCCTCAC others(161): Show TCCCTCACCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCC CCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCC TCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTC GCCTTCCATCTACGGGACC	T T	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0017 a0017	a0017c0017 a0017c0017	a0017c0017t0001 a0017c0017t0001	a0017c0017t0001g0142 a0017c0017t0001g0142	1	270	0.0037	-168	c.451 others(17): Show c.451-2704_451-2537del		TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
TCF3_chr19_1604292_1657615	1628120	GGGGATGA others(161): Show GGGGATGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCAC AGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCAC	G G	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0019 a0001c0005t0004g0019	1	352	0.0028	-168	c.299 others(15): Show c.299-862_299-695del		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
TMC6_chr17_78102397_78133755	78115614	GAGGAGCG others(161): Show GAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCAC	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0110 a0002c0002t0007g0110	1	444	0.0023	-168	c.227 others(19): Show c.2277+1487_2277+1654del		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	AGCGAAGG others(161): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18995.hp1 NA20129.hp2 others(1): Show HG03195.hp1 NA18995.hp1 NA20129.hp2 NA20752.hp2	a0001 a0002 a0018 a0001 a0002 a0018	a0001c0001 a0002c0002 a0018c0027 a0001c0001 a0002c0002 a0018c0027	a0001c0001t0030 a0002c0002t0008 a0002c0002t0036 others(1): Show a0001c0001t0030 a0002c0002t0008 a0002c0002t0036 a0018c0027t0001	a0001c0001t0030g0431 a0002c0002t0008g0106 a0002c0002t0036g0102 others(1): Show a0001c0001t0030g0431 a0002c0002t0008g0106 a0002c0002t0036g0102 a0018c0027t0001g0246	4	444	0.0090	-168	c.227 others(19): Show c.2277+1483_2277+1650del		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMCO1_chr1_165721795_165773868	165761972	AAACATTT others(161): Show AAACATTTTTATTAAAATGTTATAAGGATAACATTTTTATTAAAATGTTA TAAGGATAACATTTTTATTAAAATGTTATAAGGATAACATTTTTATTAAA ATGTTATAAGGATAACATTTTTATTAAAATGTTATAAGGATAACATTTTT ATTAAAATGTTATAAGGAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0355 a0001c0001t0001g0355	1	374	0.0027	-168	c.149 others(17): Show c.149-2556_149-2389del		TMCO1	ENSG00000143183.18	transcript	ENST00000367881.11	protein_coding	2/6						chr1	TogoVar
TMEM132D_chr12_129066726_129909025	129190340	TTGGGGGC others(161): Show TTGGGGGCCTGCAGATGGAGGGAGGGAGTCTCAGGCCTGCAGATGGAGGG AGGGAGTCTCAGGCCTGCAGATGGAGGGAGGGGTCTCGGCCTGCAGATGG AGGGAGGGAGTCTCAGGCCTGCAGATGGAGGGAGGGAGTCTCAGGCCTGC AGATGGAGGGAGGGGTCTC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01433.hp1 HG02040.hp1 HG01192.hp1 HG01433.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0002g0058 a0001c0004t0001g0036 a0001c0004t0001g0046 a0001c0001t0002g0058 a0001c0004t0001g0036 a0001c0004t0001g0046	3	94	0.0319	-168	c.144 others(21): Show c.1443+19012_1443+19179del		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8						chr12	TogoVar

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Search Results (Total: 10000 hits)