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
TRPM4_chr19_49152792_49216836	49166692	CTCTTTGG others(261): Show CTCTTTGGGTCTGTGTTTCCGCTTTTCTCTGTGTCTCTGTCCCCGTCTCT CTGGGTCTCTGTCTCTGTCTCTCTGGGTCTCTGTCTCTGTCTCTCTGGGC CTCTGTTTCCCCTTTTCTCTGTGTCTCTGTCCCCGTCTCTCTGGGTCTCT GTCTTCCTCTCTCTGGGTCTGTTTCCCCCTCTCTCTGGGTCTCTGTCCCC ATCTCTCTGGGTCTCTGTCTGTTTCTCCGGGTCTCCGTCCCTGTCTCTCC GGGTCTCTGTTTCCCCTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01167.hp2 HG01081.hp1 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0066 a0001c0001t0002g0067	2	312	0.0064	-268	c.267 others(15): Show c.267+481_267+748del		TRPM4	ENSG00000130529.16	transcript	ENST00000252826.10	protein_coding	3/24					INFO_REALIGN_3_PRIME	chr19	TogoVar
TRPM4_chr19_49152792_49216836	49172743	CAATTCCA others(261): Show CAATTCCATTCACTCATTCTTCCATCCATCCATCTTCTCACCTGTCCATC CACACATCCACTGACAATTCCTGAGAATGCCATCCGCTCATTCCTCCATC CGTCTTCTCACCTGTCCATCCACACATCCACTGACAATTCCTGAGAATTC CATCCGCTCATTCCTCCATCCGTCTTCTCACCTGTCCATCCACACATCCA CTGACAATTCCATCCACTTATTGTTCCATCCATCCATCTTCTCACCTGTC CATCCACACATCCACTGAA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0222 a0002c0014t0001g0222	1	312	0.0032	-268	c.115 others(17): Show c.1150+706_1150+973del		TRPM4	ENSG00000130529.16	transcript	ENST00000252826.10	protein_coding	9/24					INFO_REALIGN_3_PRIME	chr19	TogoVar
UBFD1_chr16_23552727_23579389	23577414	GGTCTCAC others(261): Show GGTCTCACGATATTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAATCAA AGTGCTAGGATTAACAGAACAGGCATGAGCCACCATGCCGGGCCTCTCAT GACACTTTTTAAAGTCCAGGCCTTATAAACTCCCACCTTCTGGATTTGTT TCCTCATAATCAGATTCAGGTTAGATGATTTTAGCAAGAGTGCCTCAGAG GTGACATGACCTCAGTGCCTCACATCAGGAGCAGCATAGGAGGTTGACTT GTTGTATCATTGGTGATGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02630.hp2 HG02280.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0111 a0001c0001t0022g0112 a0001c0001t0022g0111 a0001c0001t0022g0112	2	376	0.0053	-268	c.68 others(11): Show c.6825_*7092del		UBFD1	ENSG00000103353.16	transcript	ENST00000395878.8	protein_coding					3026		chr16	TogoVar
ZNF516_chr18_76352682_76500242	76392936	CAGGTGGT others(261): Show CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCA GGGCGGGTGGTCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0005 a0001c0011t0005	a0001c0011t0005g0207 a0001c0011t0005g0207	1	346	0.0029	-268	c.181 others(21): Show c.1811-12901_1811-12634del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZZEF1_chr17_3999445_4148030	4132516	GTGAAACC others(261): Show GTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCTTGGTGG CAGGCGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGGGTGGATCACA AAGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCT ACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAAGTCAGGAGATCAAG ACCATCCTGGCTAACACGA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03491.hp1 HG03492.hp1 HG02735.hp1 HG03491.hp1 HG03492.hp1	a0003 a0012 a0003 a0012	a0003c0003 a0012c0015 a0003c0003 a0012c0015	a0003c0003t0004 a0012c0015t0012 a0003c0003t0004 a0012c0015t0012	a0003c0003t0004g0274 a0012c0015t0012g0289 a0012c0015t0012g0290 a0003c0003t0004g0274 a0012c0015t0012g0289 a0012c0015t0012g0290	3	296	0.0101	-268	c.355 others(17): Show c.355-8733_355-8466del		ZZEF1	ENSG00000074755.15	transcript	ENST00000381638.7	protein_coding	1/54						chr17	TogoVar
ACSBG2_chr19_6130667_6198091	6152284	TTTTTTTT others(260): Show TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC GGGTTCACGCCATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCA CCCGCCTCGGCCTCCCAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(94): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00597.hp2 HG00642.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01167.hp2 HG01168.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02602.hp2 HG02647.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03195.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03834.hp1 HG03942.hp2 HG04184.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18945.hp1 NA18950.hp1 NA18952.hp2 NA18963.hp1 NA18966.hp1 NA18970.hp2 NA18975.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA19000.hp2 NA19001.hp2 NA19007.hp1 NA19012.hp1 NA19030.hp1 NA19064.hp1 NA19065.hp2 NA19068.hp1 NA19081.hp1 NA19084.hp1 NA19085.hp2 NA19089.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0018 a0001 a0018	a0001c0001 a0001c0017 a0018c0015 a0001c0001 a0001c0017 a0018c0015	a0001c0001t0001 a0001c0017t0001 a0018c0015t0001 a0001c0001t0001 a0001c0017t0001 a0018c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(94): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0017t0001g0239 a0018c0015t0001g0257	97	262	0.3702	-267	c.386 others(15): Show c.386+507_386+773del		ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
C7orf50_chr7_992006_1143247	1116105	GGCTTCCA others(260): Show GGCTTCCATCACCAATGCCCATGCAGGATGACATAACTACAGCTCTACGG ACCGGCTTCCATCACCAACGCCCACGCAGGATGACATCACTACAGCTCTA GGGACTGGCTTCCATCACCAACGCCCACGCAGGATGACTTCACTACAGCT CTACGGACCGGCTTCCATCACCAAGGCCCACGCAGGATGACATCACTACA GCTCTACGGACAGGCTTCCATCACCAACGCCCATGCAGGATGATGACATC ACTACAGCTCTAGGGACA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0275 a0001c0001t0003g0275	1	326	0.0031	-267	c.129 others(19): Show c.129+10885_129+11151del		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4						chr7	TogoVar
CACNA1C_chr12_2047987_2702950	2106030	TGGGGCGT others(260): Show TGGGGCGTCCTGAAGCCACTGGGCGCCCACCCTGGAGAAGGTTTCCACCT CAGCTGGGCGTCCTGAAGCCACTGGGCGCCCACCCTGGAGAGGGTTTCCA CCTGAGCTGGGCGTCCTGAAGCCACTGGGCGCCCACCCTGGAGAGAGTTT CCACCTCAGCTGGGCGTCCTGAAGCCACTGGGTGCCCACCCCGGAGAGGG TTTCCACCTGAGCTGGGCGTCCTGAAGCCACTGGGCGCCCACCCCGGGGA GGATTTCTACCTCATCTG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0011 a0003c0023t0011	a0003c0023t0011g0048 a0003c0023t0011g0048	1	104	0.0096	-267	c.50- others(15): Show c.50-9190_50-8924del		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CAMK1D_chr10_12344547_12840545	12775853	AGGTGAGA others(260): Show AGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAA GGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGG CTCAGGCATTGATCAGGT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01928.hp2 HG03195.hp1 HG01069.hp2 HG01928.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0027 a0001c0002t0051 a0001c0001t0006 a0001c0002t0027 a0001c0002t0051	a0001c0001t0006g0075 a0001c0002t0027g0036 a0001c0002t0051g0179 a0001c0001t0006g0075 a0001c0002t0027g0036 a0001c0002t0051g0179	3	214	0.0140	-267	c.565 others(17): Show c.565+6056_565+6322del		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC127_chr5_191868_223153	210874	CGAGACAG others(260): Show CGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCACTGT GAGCACGCTGATGCTCGACATCGCACACTGCAGCCACGATGAGACAGCAC CACACACCCATCAGGATGGGGCAGACGGGACAGCAGTGTGAGCACGCTGA TGCTCGACATCACACACTGCAGCCACGATGAGACAGCACCACACACCCAT CACGATGGGGCAGACGGGACAGCAGTGTGAGCACGCTGATGCTCGACATC GAATACTGCAGCCACGAT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0131 a0001c0001t0131	a0001c0001t0131g0127 a0001c0001t0131g0127	1	406	0.0025	-267	c.122 others(17): Show c.122-5183_122-4917del		CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2						chr5	TogoVar
CCDC127_chr5_191868_223153	212161	GGGACAGC others(260): Show GGGACAGCAGTGTGAGCACGCTGATGCTCGACATCACACACTGCAGCCAC GATGAGACAGCACCACACACCCATCACGATGGGGCAGACGGGACAGCAGT GTGAGCACGCTGATGCTCGACATCGAATACTGCAGCCACGATGAGACAGC ACCACACACCCATCACGATGGGGCAGACGGGACAGCAATGTGAGCACGCT GATGCTCGACATCGCACACTGCAGCCATGACGAGACAGCACCACACACCC ATCATGATGGGGCAGACT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 NA18990.hp1 HG01070.hp1 HG01071.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0034 a0001c0001t0001 a0001c0001t0034	a0001c0001t0001g0104 a0001c0001t0034g0017 a0001c0001t0001g0104 a0001c0001t0034g0017	3	406	0.0074	-267	c.121 others(17): Show c.121+4301_121+4567del		CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2						chr5	TogoVar
CCDC127_chr5_191868_223153	213176	CGACATCG others(260): Show CGACATCGAATACTGCAGCCACGACGAGACAGCACCACACACCCATCAGG ATGGGGCAGACGGGACAGCAGTGTGAGCACACTGATGCTCGACATCGCAC ACTGCAGCCACGACGAGACAGCACCACACACCCATCACGATGGGGCAGAC GGGACAGCAGTGTGAGCACGCTGATGCTCGACATCGCACACTGCAGCCAT GACGAGACAGCACCACACACCCATCATGATGGGGCAGACTGGACAGCAGT GTGAGCACACTGATGCTT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0163 a0001c0001t0163	a0001c0001t0163g0111 a0001c0001t0163g0111	1	406	0.0025	-267	c.121 others(17): Show c.121+3286_121+3552del		CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2						chr5	TogoVar
CDK12_chr17_39456486_39539544	39498941	TTCTTTCT others(260): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02004.hp1 NA19002.hp2 others(1): Show HG01433.hp1 HG02004.hp1 NA19002.hp2 homoSapiens_chm13v2.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0001 a0001c0001t0014 a0008c0009t0001 a0001c0001t0001 a0001c0001t0014 a0008c0009t0001	a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0014g0130 others(1): Show a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0014g0130 a0008c0009t0001g0167	4	260	0.0154	-267	c.242 others(19): Show c.2420-2307_2420-2041del		CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
COL4A2_chr13_110302284_110518209	110481653	TTGCTGGA others(260): Show TTGCTGGAGACACACAGTTCTGTCCTTCCATTGCTGGAGACACACTGTTC TGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGA CACACAGTTCTGTCCCTCCATTGCTGGAGACACACTGCTCTGTCCCTCCG TTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTC TGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACA CACTGCTCTGTCCCTCCG	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0003 a0003	a0003c0093 a0003c0093	a0003c0093t0010 a0003c0093t0010	a0003c0093t0010g0148 a0003c0093t0010g0148	1	372	0.0027	-267	c.275 others(17): Show c.2759-848_2759-582del		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
DDX51_chr12_132131594_132149319	132148989	TGCCGCCG others(260): Show TGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC ACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0013 a0004c0012t0013	a0004c0012t0013g0018 a0004c0012t0013g0018	1	334	0.0030	-267	c.-49 others(11): Show c.-4960_-4694del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					4671		chr12	TogoVar
DNMT1_chr19_10128346_10199953	10187556	TGAGACCC others(260): Show TGAGACCCTGTCTCTACGAGAAAACAGTAATTAGCTGGGTATGACAGCAC GCACCTGTACTCCTAGCTGCTCAGGAGGCCGAGGCGGAAGGATCACTAGA GCCCAGGAATTTGAGACCAGCCTGGGCAACACAGCGAGAACCTGTCTCTA CAAAAAATAGTAATTAGCTGGGTGTGGTGGCATGCACCTATAGTCTTAGC TACTCAGGAGGCTGAGGCGGGAGGATCACTAGAGCCCAGGAATTCAAGAC CAGCCTGAGCAACACAGC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0101 a0002c0003t0001g0101	1	386	0.0026	-267	c.81- others(15): Show c.81-5746_81-5480del		DNMT1	ENSG00000130816.17	transcript	ENST00000359526.9	protein_coding	1/40						chr19	TogoVar
DOCK8_chr9_209865_470255	400667	AGCATCTT others(260): Show AGCATCTTCACCATCACCACCACCTCCACCACCACCACCACCTCCACCAT CACCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCT CCACCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACC ACCTCCACCATCACCATCACCACCACCTCCACCATCACCACCTCCTCCAC CATCACCACCACCTCCACCACCACCACCTCCCCCACTACCAACAGCTCCT TCACCATCACCACAACAT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0136 a0003c0004t0001g0136	1	256	0.0039	-267	c.323 others(19): Show c.3234+1409_3234+1675del		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47						chr9	TogoVar
GET4_chr7_871554_901436	889666	TAGGACGG others(260): Show TAGGACGGGGTCTGGGGCGAGCGGGTGTTAGGACGGGCCTGGGAGCGGAG GGAGTGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAG CGGGTGTTAGGACGGGGCCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAG GACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCT GGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAG GGAGCGAGAGCGGGTGTC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0054 a0001c0001t0014g0054	1	384	0.0026	-267	c.467 others(16): Show c.467-1246_467-980del		GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
KRTAP10-11_chr21_44641414_44652650	44646758	TGTGCCTG others(260): Show TGTGCCTGTCTGCTGCAAGACTGTCTGCTGCAAGCCTGTGTGCTGTGTGC CTGTCTGCTGTGGGGCTGCTTCTTCGTGCTGCCGGCAGTCTAGCTGCCAG CCAGCTTGCTGTGCCTCTTCCTCCTGCCAGCCGGCCTGCTGTGTGCCCGT CTGCTGCAAGCCTGTGTGCTGTGTGTCCACCTGCTCTGAGGATTCCTCTT CATGCTGCCAGCAGTCTAGCTGCCAGCCAGCTTGCTGCACCTCCTCCTCC TACCAGCAGGCCTGCTGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02486.hp2 HG02486.hp2	a0020 a0020	a0020c0018 a0020c0018	a0020c0018t0001 a0020c0018t0001	a0020c0018t0001g0000 a0020c0018t0001g0000	1	422	0.0024	-267	c.326 others(7): Show c.326_592del	p.Cys others(13): Show p.Cys109_Val197del	KRTAP10-11	ENSG00000243489.4	transcript	ENST00000334670.9	protein_coding	1/1	371/1237	326/897	109/298		INFO_REALIGN_3_PRIME	chr21	TogoVar
MGAM_chr7_141990879_142111747	142042225	AATATATA others(260): Show AATATATAACATATATTATATATACATATAATATATAACATATATTATAT ATACATATAATATATAACATATATTATATATACATATAATATATAACATA TATTATATATACATATAATATATAACATATATTATATATACATATAATAT ATAACATATATTATATATACATATAATATATAACATATATTATATATACA TATAATATATAACATATAATATATAATATAACATATAATATATAATATAT AATATATATTATATACAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0038 a0038	a0038c0063 a0038c0063	a0038c0063t0001 a0038c0063t0001	a0038c0063t0001g0063 a0038c0063t0001g0063	1	316	0.0032	-267	c.249 others(19): Show c.2498+1388_2498+1654del		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70					INFO_REALIGN_3_PRIME	chr7	TogoVar
NXN_chr17_794310_984776	894023	TCCCTGGA others(260): Show TCCCTGGAAGCCAGAGGAAGCATCTCAACTCCCTGGAAGCCAGAGGAAGC ATCTCAACTCCCTGGAAGCCAGAGGAAGCATCTCAACTCCCTGGAAGCCA GAGGAAGCATCTCAAACGCCCTGGAAGCCAGAGGAAGCATCTCAAACGCC CTGGAAGCCAGAGGAAGCATCTCAAACGCCCTGGAAGCCAGAGGAAGCAT CTCAAACGCCCTGGAAGCCAGAGGAAGCATCTCAAACGCCCTGGAAGCCA GAGGAAGCATCTCAAACG	T T	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	242	0.0041	-267	c.361 others(19): Show c.361-68212_361-67946del		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
RASA4_chr7_102574646_102621756	102606557	GGGAAGAG others(260): Show GGGAAGAGAGTGGCCCTCCCCTAGGGCTGCTGGGAGGAGGGTCTGAGGCC CAGATGGAGAAGCTACAAGATTGCGCCATTGCACTCCAGACTGGGTGATA GAGCAAGACCCCATCTCAAAAAAAAAAAAAAAAAGATGGAGTCTTGCTAT GTTGCTCAGGCTGGTCTCAAACTCCTGACCTCAAGCCATCCTCCCACCTC AGCCTCCTAAGGTGCTGCGATTATAAGTGTGGGCCGCTGTACCCAGCCAG ATTCCCCATCTTAAAACA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0013 a0001c0001t0035g0013	1	130	0.0077	-267	c.299 others(15): Show c.299-837_299-571del		RASA4	ENSG00000105808.19	transcript	ENST00000262940.12	protein_coding	4/20						chr7	TogoVar
RNF148_chr7_122696668_122707922	122705697	TATAATAT others(260): Show TATAATATATCATATATTATATAATATATCATATATTATATAATATATAA TATATATAATATATAATATATGATATATTATATAATATATATCATATATA ATATAATATATATGATATATAATAATATATATTTATATATAATATATATT ATATAACATATTATACATATTATATATAATATAATATAATAAATATAATA TAATATATAATATATTATATAATATAATATATAATATATTATATAATATA ATATATAATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	432	0.0023	-267	c.-32 others(11): Show c.-3214_-2948del		RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding					2776		chr7	TogoVar
RNF213_chr17_80255852_80403794	80314226	GTGAAGGT others(260): Show GTGAAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTAAAGGTGATGGT GGAGGTACTGGAGGTGATGGTGGTGGACGTGATGGTGGAGGTAATGGAGG TGATGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGCGGTCGTG GAGGTGATGGTGGAGGTAATGGAGGTGGTGGTGGTGGTGGTGGTGGAGGT ACTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGATGGTGATGG TGGAGGTACTGGAGGTGA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0093 a0093	a0093c0106 a0093c0106	a0093c0106t0018 a0093c0106t0018	a0093c0106t0018g0032 a0093c0106t0018g0032	1	292	0.0034	-267	c.281 others(19): Show c.2811+1062_2811+1328del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314587	AGGTAATG others(260): Show AGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGTGGTGGAGGTACTGGAG GTGATGGCGGTCGTGGAGGTGATGGTGGAGGTAATGGAGGTGGTGGTGGT GGTGGTGGTGGAGGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGATGG TGGTGATGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGTGGAG GTAATGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAATGGAGGT GATGGTGGTGGTGGTGGT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01243.hp2 HG03225.hp1 others(5): Show HG01081.hp2 HG01243.hp2 HG03225.hp1 HG03579.hp2 HG03704.hp1 NA18980.hp1 NA19030.hp1 NA19043.hp2	a0009 a0015 a0022 others(2): Show a0009 a0015 a0022 a0023 a0044	a0009c0016 a0009c0089 a0015c0018 others(3): Show a0009c0016 a0009c0089 a0015c0018 a0022c0126 a0023c0087 a0044c0097	a0009c0016t0009 a0009c0089t0005 a0015c0018t0022 others(4): Show a0009c0016t0009 a0009c0089t0005 a0015c0018t0022 a0015c0018t0062 a0022c0126t0067 a0023c0087t0013 a0044c0097t0022	a0009c0016t0009g0103 a0009c0089t0005g0104 a0015c0018t0022g0025 others(5): Show a0009c0016t0009g0103 a0009c0089t0005g0104 a0015c0018t0022g0025 a0015c0018t0022g0085 a0015c0018t0062g0024 a0022c0126t0067g0180 a0023c0087t0013g0213 a0044c0097t0022g0027	8	292	0.0274	-267	c.281 others(19): Show c.2811+1424_2811+1690del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80748336	GTGGATGG others(260): Show GTGGATGGGGGGGCTGCGGTGTGTGTTTGGAGGCCGTGGCGGGAGGGCCT GTTGGGTGGATGGGGGGGCTGCGGTGTGTGTTTGGAGGCCGTGGCGGGAG GGCCTGTTGGGTGGATGGGGGGGCTGCGGTGTGTGTTTGGAAGCCTTGGC GGGAGGGCCTGTTGGATGGAGGGACTGCGGTGTGTGTTTAGAGGCCATGG CGGGAGGACCTGTTGGGTGGATGGAGGGGCTGCGGTGTGTGTTTGGAGGC CGTGGCGGGAGGACCTGT	G G	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0061 a0001c0061	a0001c0061t0009 a0001c0061t0009	a0001c0061t0009g0040 a0001c0061t0009g0040	1	196	0.0051	-267	c.655 others(17): Show c.655-5666_655-5400del		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RUNDC3B_chr7_87623398_87837296	87626366	ATGTGTCA others(260): Show ATGTGTCATATGTATGTGTCATATATATGTGTCATATGTATGTGTCATAT ATATGTGTCATATGTATGTGTCATATATGTGTCATATATATGTGTCATAT ATGTGTCATATATATGTGTCATATATATGTGTCATATATGTGTCATATAT ATGTGTCATATATATGTGTCATATATGTGTCATATATATGTGTCATATAT ATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATAT ATATGTGTCATATATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0159 a0001c0001t0023g0159	1	202	0.0050	-267	c.-24 others(11): Show c.-2457_-2191del		RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding					2031		chr7	TogoVar
SLC66A2_chr18_79897420_79956653	79919999	GAGGAGAG others(260): Show GAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAG GAACCGAGTGAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGAGGGA GAGGTCAAGGTCAGTGGGGAGAGACGGAACCGAGGGAGAGGTCAGGGTCA GTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGAGGAGAGA CAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGAACCGAGGG AGAGGTCAGGGTCAGTGA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0295 a0001c0001t0003g0295	1	352	0.0028	-267	c.392 others(15): Show c.392-866_392-600del		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5						chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920379	GGAGGAGA others(260): Show GGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACA GGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGA GAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTC AGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGA CGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAG GGAGAGGTCAAGGTCAGT	G G	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0267 a0001c0001t0004g0267	1	352	0.0028	-267	c.392 others(16): Show c.392-1246_392-980del		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5						chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920925	AGGAACCG others(260): Show AGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGG AGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGC TCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGA GACAGGAACCGAGTGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGAG TGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAGG GTCAGAGGAGGAGAGACG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01081.hp2 HG02895.hp1 others(4): Show HG01074.hp1 HG01081.hp2 HG02895.hp1 HG03130.hp2 NA19043.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0023 a0001c0003t0002 a0001c0001t0002 a0001c0001t0023 a0001c0003t0002	a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0156 others(4): Show a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0023g0336 a0001c0003t0002g0157	7	352	0.0199	-267	c.392 others(17): Show c.392-1792_392-1526del		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5						chr18	TogoVar
TSPEAR_chr21_44492893_44716572	44646758	TGTGCCTG others(260): Show TGTGCCTGTCTGCTGCAAGACTGTCTGCTGCAAGCCTGTGTGCTGTGTGC CTGTCTGCTGTGGGGCTGCTTCTTCGTGCTGCCGGCAGTCTAGCTGCCAG CCAGCTTGCTGTGCCTCTTCCTCCTGCCAGCCGGCCTGCTGTGTGCCCGT CTGCTGCAAGCCTGTGTGCTGTGTGTCCACCTGCTCTGAGGATTCCTCTT CATGCTGCCAGCAGTCTAGCTGCCAGCCAGCTTGCTGCACCTCCTCCTCC TACCAGCAGGCCTGCTGC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	294	0.0034	-267	c.82+ others(17): Show c.82+64408_82+64674del		TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	1/11						chr21	TogoVar
TUBGCP2_chr10_133273635_133313872	133291919	TCCGTGTC others(260): Show TCCGTGTCCCCCATGTCCCTCCGTGTCCCTCCGTGTCCCCGTGTCCCGGG GAGCCCTACCTGTACGGGAGAGGGCAGCACGCACCCTCCGTGTCCCCCAT GTCCCTCTGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCGTG TCCCCCGTGTCCCTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTC CCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGC ATGCACACTCCGTGTCCC	T T	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	284	0.0035	-267	c.121 others(17): Show c.1214+313_1214+579del		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
ZNF512B_chr20_63951704_63974930	63965657	CACCACTG others(260): Show CACCACTGTTCCCTGACCTGGGACGAGCCCCCATACCTTTTCTTACCACT GTTCCTCCCCGACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTC CTCCCCGACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTCCTCC CCGACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTCCCCGACCT GGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCCTGACCTGGGACGA GCCCCCATACCTTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0162 a0001c0002t0002g0162	1	356	0.0028	-267	c.103 others(17): Show c.1034+217_1034+483del		ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding	5/16						chr20	TogoVar
ACAP3_chr1_1287391_1312930	1288547	TCCCCCGT others(259): Show TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCCCTGTTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0095 a0001c0002t0002g0095	1	295	0.0034	-266	c.47 others(11): Show c.4751_*5016del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3843		chr1	TogoVar
ACSBG2_chr19_6130667_6198091	6152285	TTTTTTTT others(259): Show TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGA CTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCG GGTTCACGCCATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGACTACAGG CGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCAC CCGCCTCGGCCTCCCAA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00673.hp2 HG00735.hp2 others(13): Show HG00544.hp2 HG00673.hp2 HG00735.hp2 HG01891.hp2 HG02148.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG04184.hp2 NA18522.hp1 NA18956.hp2 NA18968.hp2 NA18974.hp1 NA18981.hp2	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0001c0020 a0001c0024 others(2): Show a0001c0001 a0001c0020 a0001c0024 a0004c0019 a0009c0010	a0001c0001t0001 a0001c0020t0001 a0001c0024t0001 others(2): Show a0001c0001t0001 a0001c0020t0001 a0001c0024t0001 a0004c0019t0002 a0009c0010t0002	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0039 others(13): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0020t0001g0051 a0001c0024t0001g0036 a0004c0019t0002g0050 a0009c0010t0002g0052 a0009c0010t0002g0054	16	262	0.0611	-266	c.386 others(15): Show c.386+507_386+772del		ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
ADGRD1_chr12_130948907_131146469	131032719	ATGACGTT others(259): Show ATGACGTTTATTAGAGAAATCGCCACCCCGTCACAGAGGTGACGCTTATT AGAGAAATCGCCACCCCGTCACAGAGGTGACGCTTATTAGAGAAATCGCC ACCCCGTCACAGAGGTGACGCTTATTAGAGAAATCGCCACCCCGTCACAG AGGTGACGCTTATTAGAGAAATCGCCACCCCGTCACAGAGGTGACGCTTA TTAGAGAAATCGCCACCCCGTCACAGAGGTGACGCTTATTAGAGAAATCG CCACCCCGTCACAGAGG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00639.hp2 others(18): Show HG00280.hp1 HG00639.hp1 HG00639.hp2 HG01074.hp1 HG01074.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG02056.hp2 HG02273.hp2 HG02300.hp1 HG02683.hp2 HG02698.hp1 NA18992.hp2 NA19080.hp2 NA19089.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0017 a0004c0015 a0004c0016 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0003t0004 a0001c0004t0002 a0001c0004t0005 a0001c0017t0008 a0004c0015t0003 a0004c0015t0005 a0004c0016t0002 a0004c0016t0003 a0005c0011t0008	a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0002g0130 others(18): Show a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0002g0130 a0001c0001t0003g0023 a0001c0002t0001g0169 a0001c0002t0001g0202 a0001c0002t0003g0061 a0001c0003t0004g0013 a0001c0003t0004g0188 a0001c0003t0004g0189 a0001c0003t0004g0190 a0001c0003t0004g0192 a0001c0004t0002g0131 a0001c0004t0005g0070 a0001c0017t0008g0029 a0001c0017t0008g0030 a0004c0015t0003g0052 a0004c0015t0005g0086 a0004c0016t0002g0065 a0004c0016t0003g0051 a0005c0011t0008g0047	21	242	0.0868	-266	c.147 others(21): Show c.1473+18385_1473+18650del		ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24					INFO_REALIGN_3_PRIME	chr12	TogoVar
AMFR_chr16_56356452_56430545	56397875	AATGTATC others(259): Show AATGTATCATTTATAATATATAAATGTATCATTTATAATATATAAATGTA TCATTTATAATATATAAATGTATCATTTATAATATATAAATGTATCATTT ATAATATATAAATGTATCATTTATAATATATAAATGTATCATTTATAATA TATAAATGTATCATTTATAATATATAAATGTATCATTTATAATATATAAA TGTATCATTTATAATATATAAATGTATCATTTATAATATATAAATGTATC ATTTATAATATATAACT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0171 a0001c0001t0004g0171	1	356	0.0028	-266	c.108 others(19): Show c.1085+3592_1085+3857del		AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13						chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89400374	CGGTCATC others(259): Show CGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCT GCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCTGCCCCAGGCTTC CCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGG GATGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTG CTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCT TCCCTGCGCTGGGGGAT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0276 a0002c0002t0002g0276	1	310	0.0032	-266	c.-60 others(19): Show c.-60+17644_-60+17909del		ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12						chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89400488	CGGTCATC others(259): Show CGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGATGGTCATCTGCT GCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTC CCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGG GATGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTG CTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCT TCCCTGCGCTGGGGGAT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0018 a0018	a0018c0046 a0018c0046	a0018c0046t0002 a0018c0046t0002	a0018c0046t0002g0125 a0018c0046t0002g0125	1	310	0.0032	-266	c.-60 others(19): Show c.-60+17530_-60+17795del		ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12						chr16	TogoVar
ARHGEF10_chr8_1818926_1963641	1888932	GGTCTGTG others(259): Show GGTCTGTGACGAGACACTGAGTGGGGTGAGGGGTCTGCGAGGAGACACTG AGGTGTGAGGGGTCTACAAGGAGTCACGGAGTGCAGTGAGAGTTGTGAGG AAACATGGAGTGGGGTGCGGGTCATGAGGAGACAGTGATTGGGGTGAGGG GTCCGTGAGGAGACACTGAGTGGGGTGTGAGGGGTCTGTGAGGAGACACT GTGAGTGGGGTGAGGGTTGTGAGGAGACGCTGAGTTGGGGGGTTGTGAGG AGAGCGTGGGGTGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0143 a0001c0007t0003g0143	1	363	0.0028	-266	c.118 others(19): Show c.1182+3226_1182+3491del		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28						chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1889495	CTGTGAGG others(259): Show CTGTGAGGAGACACTGAGTGGGGTGAGGGGTATTGAGGAGACACTGAGTA GGGTAAGGAGTCTGTGTGGAGACACTGAGTGGGGTGAGGGGTTTGTGAGG AGACACTGAGTGTGGGTGAGGGGTCTGTGAGGAGTCATGGAGTGTGGTGT GAGTTGTGAGAAAACTCGGAGTGGGGTGAGGGTCGTGAGGAAACAGTGGG GTGAAGGTTTGTGAGGAGACCCTGAGTGGAGTGAGGGTTGCGAGGAGACA TTGAGTGGGATGAGGGT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02622.hp1 HG02683.hp2 others(13): Show HG01243.hp1 HG02622.hp1 HG02683.hp2 HG03209.hp2 HG03490.hp1 HG03492.hp2 HG03669.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA19030.hp1 NA19065.hp1 NA19070.hp2 NA19081.hp2 NA19086.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0009 a0001c0012 a0001c0035 a0001c0037 a0004c0040	a0001c0001t0006 a0001c0002t0001 a0001c0003t0007 others(11): Show a0001c0001t0006 a0001c0002t0001 a0001c0003t0007 a0001c0003t0008 a0001c0003t0063 a0001c0007t0003 a0001c0009t0023 a0001c0009t0058 a0001c0009t0069 a0001c0012t0001 a0001c0035t0061 a0001c0037t0005 a0001c0037t0008 a0004c0040t0065	a0001c0001t0006g0115 a0001c0002t0001g0259 a0001c0002t0001g0274 others(13): Show a0001c0001t0006g0115 a0001c0002t0001g0259 a0001c0002t0001g0274 a0001c0003t0007g0102 a0001c0003t0008g0288 a0001c0003t0063g0089 a0001c0007t0003g0143 a0001c0009t0023g0046 a0001c0009t0023g0047 a0001c0009t0058g0200 a0001c0009t0069g0302 a0001c0012t0001g0031 a0001c0035t0061g0075 a0001c0037t0005g0308 a0001c0037t0008g0309 a0004c0040t0065g0181	16	363	0.0441	-266	c.118 others(19): Show c.1182+3817_1183-3780del		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP9B_chr18_79064394_79383283	79356824	TGTGTGAG others(259): Show TGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTG TGAGGGATGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTC TGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGATGCTCTGGGTCTGGA GGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGAC CCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCC TGGGTCTGGAGGTGTCC	T T	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA19088.hp2 NA18948.hp2 NA19088.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0136 a0001c0003t0001g0137	2	298	0.0067	-266	c.290 others(19): Show c.2904-2519_2904-2254del		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
B3GNTL1_chr17_82937149_83056770	83004004	ATGTGGGA others(259): Show ATGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTG AGCCCGCCCTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCCCGC CCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCCG CAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCGTGTGG GATTCCTGAGCCCGCCCTCCCACTCTCCGCAGTCCGCGTGTGGGATTCCT GAGCCCGCCCTCCCGCC	A A	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0232 a0001c0001t0009g0232	1	266	0.0038	-266	c.459 others(16): Show c.459+845_459+1110del		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
BRINP1_chr9_119161629_119374435	119316892	ACTATCCT others(259): Show ACTATCCTGGCCAATATGATGAAACCCCGCCTCTACTAAAAATACAAAAA TTAGCTGGGCATGGTGGTGCGCACCTGTAGTCCCAGCTACTTGGGAGGCT GAGCCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTCGCCGGGAACCAA GATCGCACCACTGCACTCCAGCCTGGTGACAGAGTGACATTCCATCTCAA AAAATAAAATAAAATAAAGAAAAAAGAAATACATTTTATACTGCTATAGC TGCCATAAAAAGGGATT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp2 HG02109.hp2 others(4): Show HG01243.hp1 HG02055.hp2 HG02109.hp2 HG02622.hp2 HG03041.hp1 HG03139.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0001t0001 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0184 a0001c0003t0001g0180 a0001c0003t0001g0183 others(4): Show a0001c0001t0001g0184 a0001c0003t0001g0180 a0001c0003t0001g0183 a0001c0003t0001g0190 a0001c0003t0001g0193 a0001c0003t0001g0213 a0001c0005t0001g0210	7	236	0.0297	-266	c.-50 others(17): Show c.-50-3753_-50-3488del		BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	1/7						chr9	TogoVar
C13orf46_chr13_113948705_113979076	113955123	TGGAGACG others(259): Show TGGAGACGAGGAGCATCCGGTGGAGATGAGGAGCATCTCGAGGAGAGGAG GAGCATCTGGTGGAGAGGAGGAGCATCCCGTGGAGACGAGGAGCATCCCG TGGAGACGAGGAGCATCTGGCGGAGACGAGGAGCATCTGGCGGAGAGGAG GAGTAGTATCTGGCGGAGAGGAGTAGTATCTGGCAGAGAGGAGTAGTATC TGGTGGAGAGGAGGAGTAGTATCTGGTGGAGAGGAGGAGCATCCGGCGGA GAGGAGGAGCATCCGGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0111 a0001c0001t0111	a0001c0001t0111g0171 a0001c0001t0111g0171	1	414	0.0024	-266	c.13 others(11): Show c.1384_*1649del		C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	7/7				1384		chr13	TogoVar
CBFA2T3_chr16_88869858_88982207	88954843	GCTCCTGA others(259): Show GCTCCTGACCCCACCCAAGGCTCCTGACCTCAGCCAAGGCTCCTGACCCT ACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCCCATCCAAGGCTCC TGACCCCAGCCAAGGCTCCTGACCCCAGCCAAGGCTCCTGACCCCGCCCA AGGCTCCTGACCTCAGCCAAGGCTCCTGACTCCACCCAAGGCTCCTGACC TCAGCCAAGGCTCCTGACCCTACCCAAGGCTCCTGACCCCACCCAAGGCT CCTGACCTCAGCCAAGA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0029 a0001c0020t0029	a0001c0020t0029g0111 a0001c0020t0029g0111	1	284	0.0035	-266	c.151 others(19): Show c.151+21548_151+21813del		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CDK12_chr17_39456486_39539544	39498942	TCTTTCTT others(259): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	260	0.0039	-266	c.242 others(19): Show c.2420-2307_2420-2042del		CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13						chr17	TogoVar
CRACR2B_chr11_822919_836986	826558	TTCGTTCT others(259): Show TTCGTTCTTGTTGCCCAGTGCAATGGCACAATCTCGGCTCACTGCAAACT CTGCCTCCCGAGTTCAAGTGATTCTCCTGGCTCAGCCTCCCAAAGTGCTG GGATTACAGGCGCCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCGCCATGTTGGGCAGGCTGGTCTCGAACTCCTGACCT CAGGTGATCTGCCCCTGTCTCAGCCCCCCAAAGTGCTGGGATTACAGGCG CCCGGCCTACATGTTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0002 a0002c0002t0005g0002	1	448	0.0022	-266	c.-20 others(11): Show c.-2049_-1784del		CRACR2B	ENSG00000177685.17	transcript	ENST00000525077.2	protein_coding					1360		chr11	TogoVar
CSNK1G2_chr19_1936172_1986338	1959585	CCCACCTT others(259): Show CCCACCTTTAGTGCCACCCTGAGTCCCCCAGCACCCGTGCCACCTTTAGT GCCACCGTGGGTCCCCCAGCACCCGCCCCACCTTTAGTGCCACCGTGGGT CCCCCAGCACCCGTCCCACCTTTAGTGCCACCCTGAGTCCTCCAGCACCT GTGCCACCTTTAGTGCCACCGTGGGTCCCCCAGCACCCGTCCCACCTTTA GTGCCACCCTGGGTCCCCCAGCACCCGCCCCACCTTTAGTACCACCCTGA GTCCCCCAGCACCTGTG	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	382	0.0026	-266	c.-26 others(19): Show c.-265-9905_-265-9640del		CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
DHRSX_chrX_2214506_2505976	2276888	GGGGAAAG others(259): Show GGGGAAAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGG GCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAGAGAG AGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGA GGGAGAGAGGAGGAGAGGGAGGAAATAGGGGGAAAGAGAGAAAGAGAGAT GGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGA AGGAAGAGGAGGAAATA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02004.hp1 HG02630.hp2 others(3): Show HG00280.hp1 HG02004.hp1 HG02630.hp2 HG04204.hp1 NA18612.hp1 NA18948.hp1	a0002 a0004 a0010 a0002 a0004 a0010	a0002c0002 a0004c0004 a0010c0015 a0002c0002 a0004c0004 a0010c0015	a0002c0002t0003 a0004c0004t0001 a0010c0015t0007 a0002c0002t0003 a0004c0004t0001 a0010c0015t0007	a0002c0002t0003g0008 a0002c0002t0003g0017 a0002c0002t0003g0045 others(3): Show a0002c0002t0003g0008 a0002c0002t0003g0017 a0002c0002t0003g0045 a0002c0002t0003g0050 a0004c0004t0001g0048 a0010c0015t0007g0036	6	50	0.1200	-266	c.389 others(18): Show c.389-10207_389-9942del		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6						chrX	TogoVar

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Search Results (Total: 10000 hits)