Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DNAJC3_chr13_95672139_95799988	95764645	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	374	0.0027	14	c.107 others(31): Show c.1075+718_1075+731dupTATATATATATATA	DNAJC3	ENSG00000102580.15	transcript	ENST00000602402.6	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
DNAJC4_chr11_64225548_64239281	64237065	A A	ACAGTCGA others(7): Show ACAGTCGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	14	c.28 others(25): Show c.2881_*2882insCAGTCGAGAGAGAG	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2785		chr11	TogoVar
DNAJC5B_chr8_66016553_66106245	66034176	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01243.hp1 HG01255.hp2 others(5): Show HG01074.hp1 HG01243.hp1 HG01255.hp2 HG01884.hp2 HG01891.hp1 HG02896.hp1 HG02897.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0003g0069 others(5): Show a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0003g0069 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0077 a0001c0001t0004g0088	8	254	0.0315	14	c.-14 others(33): Show c.-141-9293_-141-9280dupTGTGTGTGTGTGTG	DNAJC5B	ENSG00000147570.10	transcript	ENST00000276570.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAJC5G_chr2_27270433_27286499	27283770	A A	ACGCACGC others(7): Show ACGCACGCGCGCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01255.hp1 HG02132.hp2 others(2): Show HG01074.hp2 HG01255.hp1 HG02132.hp2 NA18747.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0041 a0001c0001t0002g0002 a0001c0001t0002g0041	5	340	0.0147	14	c.33 others(25): Show c.3360_*3361insCGCACGCGCGCGCG	DNAJC5G	ENSG00000163793.13	transcript	ENST00000296097.8	protein_coding		2272		chr2	TogoVar
DNAJC5G_chr2_27270433_27286499	27283784	G G	GCGCACAC others(7): Show GCGCACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01123.hp1 HG01928.hp1 others(8): Show HG01106.hp1 HG01123.hp1 HG01928.hp1 HG02258.hp2 HG03195.hp2 HG03516.hp1 HG03688.hp2 HG04204.hp1 HG04228.hp1 NA18940.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0016 others(5): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0040 a0001c0001t0002g0046 a0001c0001t0006g0002 a0001c0001t0006g0017	11	340	0.0324	14	c.33 others(25): Show c.3374_*3375insCGCACACACACACA	DNAJC5G	ENSG00000163793.13	transcript	ENST00000296097.8	protein_coding		2286		chr2	TogoVar
DNAJC5G_chr2_27270433_27286499	27283784	G G	GCGCGCAC others(7): Show GCGCGCACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02886.hp2 HG03669.hp1 HG02486.hp1 HG02886.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0002 a0001c0001t0002g0005	3	340	0.0088	14	c.33 others(25): Show c.3374_*3375insCGCGCACACACACA	DNAJC5G	ENSG00000163793.13	transcript	ENST00000296097.8	protein_coding		2286		chr2	TogoVar
DNAJC6_chr1_65304543_65420871	65417065	C C	CATATATA others(7): Show CATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG04204.hp1 NA18954.hp1 others(1): Show HG00639.hp1 HG04204.hp1 NA18954.hp1 NA18959.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0004 a0001c0003 a0002c0002 a0002c0004	a0001c0003t0002 a0002c0002t0001 a0002c0004t0005 a0001c0003t0002 a0002c0002t0001 a0002c0004t0005	a0001c0003t0002g0142 a0002c0002t0001g0176 a0002c0002t0001g0178 others(1): Show a0001c0003t0002g0142 a0002c0002t0001g0176 a0002c0002t0001g0178 a0002c0004t0005g0290	4	326	0.0123	14	c.40 others(25): Show c.4040_*4041insATATATATATATAT	DNAJC6	ENSG00000116675.16	transcript	ENST00000371069.5	protein_coding		1195		chr1	TogoVar
DNAJC7_chr17_41971435_42022439	41986047	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01071.hp2 HG01258.hp1 others(4): Show HG00735.hp1 HG01071.hp2 HG01258.hp1 HG01261.hp2 HG02027.hp2 NA18956.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0177 a0001c0001t0001g0191 others(4): Show a0001c0001t0001g0144 a0001c0001t0001g0177 a0001c0001t0001g0191 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0233 a0001c0001t0001g0283	7	338	0.0207	14	c.101 others(33): Show c.1010+1758_1010+1771dupTTTTTTTTTTTTTT	DNAJC7	ENSG00000168259.17	transcript	ENST00000457167.9	protein_coding	9/13			chr17	TogoVar
DNAJC7_chr17_41971435_42022439	42006796	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02896.hp1 HG02976.hp2 others(3): Show HG02004.hp2 HG02896.hp1 HG02976.hp2 HG03225.hp1 NA20129.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0245 a0001c0001t0002g0291 a0001c0001t0002g0292 others(3): Show a0001c0001t0002g0245 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0004g0244	6	338	0.0178	14	c.78- others(29): Show c.78-6240_78-6227dupTTTTTTTTTTTTTT	DNAJC7	ENSG00000168259.17	transcript	ENST00000457167.9	protein_coding	1/13			chr17	TogoVar
DNAJC8_chr1_28195278_28238029	28212168	A A	AATAAATA others(7): Show AATAAATAAATATAT	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	250	0.0040	14	c.238 others(31): Show c.238-1532_238-1531insATATATTTATTTAT	DNAJC8	ENSG00000126698.11	transcript	ENST00000263697.6	protein_coding	3/8			chr1	TogoVar
DNAJC8_chr1_28195278_28238029	28212168	A A	AATAAATA others(7): Show AATAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01358.hp2 HG02165.hp1 others(4): Show HG01175.hp2 HG01358.hp2 HG02165.hp1 HG02630.hp2 HG02647.hp1 HG03831.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0048 a0001c0001t0001g0076 others(4): Show a0001c0001t0001g0025 a0001c0001t0001g0048 a0001c0001t0001g0076 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0141	7	250	0.0280	14	c.238 others(31): Show c.238-1532_238-1531insATATATATATTTAT	DNAJC8	ENSG00000126698.11	transcript	ENST00000263697.6	protein_coding	3/8			chr1	TogoVar
DNAJC8_chr1_28195278_28238029	28212168	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	250	0.0040	14	c.238 others(31): Show c.238-1545_238-1532dupATATATATATATAT	DNAJC8	ENSG00000126698.11	transcript	ENST00000263697.6	protein_coding	3/8			chr1	TogoVar
DNAL1_chr14_73639986_73708732	73648403	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(37): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00639.hp2 HG00733.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp2 HG01256.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01928.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp2 HG02056.hp1 HG02129.hp2 HG02148.hp1 HG02293.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG03491.hp2 HG03704.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 NA18962.hp2 NA18973.hp1 NA19085.hp1 NA20300.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0019 a0001c0001t0022 a0001c0001t0039 a0001c0001t0042 a0001c0001t0045 a0001c0001t0047 a0001c0001t0073 a0001c0001t0078 a0002c0002t0003	a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0241 others(37): Show a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0003g0001 a0001c0001t0003g0010 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0308 a0001c0001t0010g0073 a0001c0001t0011g0238 a0001c0001t0013g0001 a0001c0001t0013g0043 a0001c0001t0019g0239 a0001c0001t0022g0057 a0001c0001t0022g0058 a0001c0001t0022g0059 a0001c0001t0039g0197 a0001c0001t0042g0196 a0001c0001t0045g0044 a0001c0001t0047g0067 a0001c0001t0073g0083 a0001c0001t0078g0074 a0002c0002t0003g0070	40	340	0.1177	14	c.3+3 others(27): Show c.3+3362_3+3375dupATATATATATATAT	DNAL1	ENSG00000119661.15	transcript	ENST00000553645.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
DNAL1_chr14_73639986_73708732	73677880	A A	ATTTGTGT others(7): Show ATTTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0084 a0001c0001t0038g0084	1	340	0.0029	14	c.264 others(31): Show c.264+6284_264+6285insTTGTGTGTGTGTGT	DNAL1	ENSG00000119661.15	transcript	ENST00000553645.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
DNAL1_chr14_73639986_73708732	73677882	A A	ATATATTT others(7): Show ATATATTTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0332 a0001c0001t0056g0332	1	340	0.0029	14	c.264 others(31): Show c.264+6286_264+6287insATATTTGTGTGTGT	DNAL1	ENSG00000119661.15	transcript	ENST00000553645.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
DNAL1_chr14_73639986_73708732	73677884	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02683.hp2 HG02897.hp2 others(3): Show HG00738.hp2 HG02683.hp2 HG02897.hp2 HG03516.hp2 NA18946.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0099	a0001c0001t0002g0167 a0001c0001t0008g0090 a0001c0001t0008g0127 others(3): Show a0001c0001t0002g0167 a0001c0001t0008g0090 a0001c0001t0008g0127 a0001c0001t0009g0149 a0001c0001t0009g0150 a0001c0001t0099g0195	6	340	0.0177	14	c.264 others(31): Show c.264+6306_264+6319dupTGTGTGTGTGTGTG	DNAL1	ENSG00000119661.15	transcript	ENST00000553645.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
DNAL1_chr14_73639986_73708732	73681623	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0227 a0001c0001t0031g0227	1	340	0.0029	14	c.265 others(31): Show c.265-5635_265-5634insTATATATATATATA	DNAL1	ENSG00000119661.15	transcript	ENST00000553645.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
DNAL1_chr14_73639986_73708732	73681631	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0100 a0001c0001t0094g0100	1	340	0.0029	14	c.265 others(31): Show c.265-5627_265-5626insTATATATATATATA	DNAL1	ENSG00000119661.15	transcript	ENST00000553645.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
DNAL1_chr14_73639986_73708732	73681633	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0110 a0001c0001t0084g0110	1	340	0.0029	14	c.265 others(31): Show c.265-5617_265-5604dupATATATATATATAT	DNAL1	ENSG00000119661.15	transcript	ENST00000553645.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
DNASE1L1_chrX_154396236_154414254	154396712	A A	ATATATAT others(7): Show ATATATATTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0006	1	279	0.0036	14	c.59 others(25): Show c.5994_*5995insAAAAAAAATATATA	DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding		4523		chrX	TogoVar
DNASE1L3_chr3_58187257_58215972	58202852	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0307 a0001c0001t0007g0307	1	372	0.0027	14	c.434 others(31): Show c.434-1744_434-1743insTTTTTTTTTTTTTT	DNASE1L3	ENSG00000163687.14	transcript	ENST00000394549.7	protein_coding	4/7			chr3	TogoVar
DNASE1_chr16_3649691_3663095	3653806	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 NA18906.hp1 NA18985.hp2 HG01169.hp2 NA18906.hp1 NA18985.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0002 a0002c0002t0001g0001 a0002c0002t0001g0014 a0001c0001t0001g0002 a0002c0002t0001g0001 a0002c0002t0001g0014	3	440	0.0068	14	c.-12 others(25): Show c.-1240_-1239insAAAAAAAAAAAAAA	DNASE1	ENSG00000213918.11	transcript	ENST00000246949.10	protein_coding		884		chr16	TogoVar
DNER_chr2_229352629_229719555	229397463	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp2 HG00621.hp1 others(29): Show HG00438.hp1 HG00609.hp2 HG00621.hp1 HG00741.hp2 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01243.hp1 HG01255.hp2 HG01346.hp2 HG01981.hp1 HG02258.hp1 HG02258.hp2 HG02602.hp2 HG02735.hp1 HG02965.hp2 HG03017.hp1 HG03225.hp1 HG03492.hp2 HG03654.hp2 HG04199.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA19066.hp2 NA19070.hp1 NA19075.hp2 NA19086.hp2 NA19090.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0007c0009	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0007c0009t0001	a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0040 others(29): Show a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0175 a0002c0003t0001g0007 a0007c0009t0001g0070	32	176	0.1818	14	c.172 others(33): Show c.1724-9081_1724-9068dupTTTTTTTTTTTTTT	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	10/12			chr2	TogoVar
DNER_chr2_229352629_229719555	229505177	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00642.hp1 HG00738.hp1 others(17): Show HG00609.hp1 HG00642.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG02451.hp2 HG02622.hp1 HG02630.hp1 HG02895.hp1 HG03017.hp2 HG03139.hp1 HG03225.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp1 NA18999.hp2 NA19066.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0004 a0001c0011t0001 a0001c0001t0001 a0001c0001t0004 a0001c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0105 a0001c0001t0001g0114 a0001c0001t0004g0091 a0001c0011t0001g0144	20	176	0.1136	14	c.114 others(33): Show c.1147+7592_1147+7605dupACACACACACACAC	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	6/12			chr2	TogoVar
DNER_chr2_229352629_229719555	229568101	A A	AATATCAA others(7): Show AATATCAAGTATATC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp2 HG02647.hp2 others(5): Show HG00639.hp2 HG01243.hp2 HG02647.hp2 HG02809.hp1 HG03209.hp1 HG03540.hp1 HG03579.hp1 NA20129.hp1	a0001 a0003 a0009 others(1): Show a0001 a0003 a0009 a0010	a0001c0001 a0001c0007 a0003c0004 others(2): Show a0001c0001 a0001c0007 a0003c0004 a0009c0008 a0010c0012	a0001c0001t0001 a0001c0007t0001 a0003c0004t0001 others(3): Show a0001c0001t0001 a0001c0007t0001 a0003c0004t0001 a0003c0004t0002 a0009c0008t0001 a0010c0012t0001	a0001c0001t0001g0005 a0001c0001t0001g0145 a0001c0007t0001g0134 others(5): Show a0001c0001t0001g0005 a0001c0001t0001g0145 a0001c0007t0001g0134 a0003c0004t0001g0060 a0003c0004t0001g0143 a0003c0004t0002g0059 a0009c0008t0001g0008 a0010c0012t0001g0015	8	176	0.0455	14	c.847 others(33): Show c.847+17756_847+17757insGATATACTTGATAT	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	4/12			chr2	TogoVar
DNER_chr2_229352629_229719555	229656985	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02886.hp2 NA18906.hp2 HG02109.hp2 HG02886.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0050 a0001c0002t0001g0176 a0001c0001t0001g0010 a0001c0001t0001g0050 a0001c0002t0001g0176	3	176	0.0171	14	c.276 others(33): Show c.276+57149_276+57162dupACACACACACACAC	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	1/12			chr2	TogoVar
DNER_chr2_229352629_229719555	229668536	G G	GTGTGTGT others(7): Show GTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	176	0.0057	14	c.276 others(33): Show c.276+45611_276+45612insTATATACACACACA	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	1/12			chr2	TogoVar
DNER_chr2_229352629_229719555	229669369	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18968.hp1 NA19043.hp2 others(1): Show HG02976.hp2 NA18968.hp1 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0028 a0001c0001t0001g0107 a0001c0001t0001g0149 others(1): Show a0001c0001t0001g0028 a0001c0001t0001g0107 a0001c0001t0001g0149 a0001c0013t0001g0162	4	176	0.0227	14	c.276 others(33): Show c.276+44765_276+44778dupATATATATATATAT	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	1/12			chr2	TogoVar
DNER_chr2_229352629_229719555	229684169	A A	AGAGAGAG others(7): Show AGAGAGAGAGAGTGT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0152	1	176	0.0057	14	c.276 others(33): Show c.276+29978_276+29979insACACTCTCTCTCTC	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	1/12			chr2	TogoVar
DNER_chr2_229352629_229719555	229700284	A A	ATGTGTGT others(7): Show ATGTGTGTGTGCATG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03209.hp2 HG04228.hp1 others(1): Show HG00639.hp2 HG03209.hp2 HG04228.hp1 HG06807.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0005 a0010c0012 a0001c0001 a0001c0005 a0010c0012	a0001c0001t0001 a0001c0005t0001 a0010c0012t0001 a0001c0001t0001 a0001c0005t0001 a0010c0012t0001	a0001c0001t0001g0054 a0001c0001t0001g0151 a0001c0005t0001g0017 others(1): Show a0001c0001t0001g0054 a0001c0001t0001g0151 a0001c0005t0001g0017 a0010c0012t0001g0015	4	176	0.0227	14	c.276 others(33): Show c.276+13863_276+13864insCATGCACACACACA	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	1/12			chr2	TogoVar
DNER_chr2_229352629_229719555	229700284	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0002 a0002c0017t0002	a0002c0017t0002g0153 a0002c0017t0002g0153	1	176	0.0057	14	c.276 others(33): Show c.276+13850_276+13863dupCACACACACACACA	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	1/12			chr2	TogoVar
DNHD1_chr11_6492280_6577020	6512211	C C	CTCTTTTT others(7): Show CTCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0073 a0073	a0073c0094 a0073c0094	a0073c0094t0008 a0073c0094t0008	a0073c0094t0008g0073 a0073c0094t0008g0073	1	342	0.0029	14	c.139 others(31): Show c.1392+783_1392+784insCTTTTTTTTTTTTT	DNHD1	ENSG00000179532.13	transcript	ENST00000254579.11	protein_coding	7/42		INFO_REALIGN_3_PRIME	chr11	TogoVar
DNHD1_chr11_6492280_6577020	6528404	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA19240.hp2 HG01109.hp1 NA19240.hp2	a0058 a0059 a0058 a0059	a0058c0056 a0059c0055 a0058c0056 a0059c0055	a0058c0056t0001 a0059c0055t0001 a0058c0056t0001 a0059c0055t0001	a0058c0056t0001g0256 a0059c0055t0001g0207 a0058c0056t0001g0256 a0059c0055t0001g0207	2	342	0.0059	14	c.183 others(29): Show c.1838-99_1838-86dupGTGTGTGTGTGTGT	DNHD1	ENSG00000179532.13	transcript	ENST00000254579.11	protein_coding	10/42		INFO_REALIGN_3_PRIME	chr11	TogoVar
DNM1_chr9_128198379_128260244	128220738	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0219 a0001c0003t0001g0219	1	350	0.0029	14	c.849 others(29): Show c.849+398_849+399insTGTGTGTGTGTGTG	DNM1	ENSG00000106976.22	transcript	ENST00000372923.8	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNM1_chr9_128198379_128260244	128220742	C C	CGCGCGCG others(7): Show CGCGCGCGCGCGTGT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0207 a0001c0002t0001g0207	1	350	0.0029	14	c.849 others(29): Show c.849+402_849+403insCGCGCGCGCGTGTG	DNM1	ENSG00000106976.22	transcript	ENST00000372923.8	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNM2_chr19_10713079_10836903	10760827	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01069.hp2 HG01070.hp2 others(22): Show HG00558.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01358.hp2 HG01516.hp2 HG01934.hp2 HG02015.hp2 HG02040.hp2 HG02622.hp1 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02922.hp2 HG03492.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp1 NA18522.hp1 NA18747.hp1 NA19043.hp1 NA19054.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0036 others(22): Show a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0036 a0001c0001t0001g0158 a0001c0001t0001g0175 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0202 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0002t0001g0007 a0001c0002t0001g0089 a0001c0002t0001g0115 a0001c0002t0002g0005 a0001c0002t0002g0008 a0001c0002t0002g0013 a0001c0002t0002g0090 a0001c0002t0002g0093 a0001c0002t0002g0098 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0274	25	278	0.0899	14	c.235 others(31): Show c.235+1020_235+1033dupTTTTTTTTTTTTTT	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DNM2_chr19_10713079_10836903	10794344	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00438.hp1 others(10): Show HG00423.hp1 HG00423.hp2 HG00438.hp1 HG01074.hp2 HG02015.hp2 HG02559.hp2 HG02698.hp1 NA18747.hp1 NA18941.hp1 NA18975.hp1 NA19010.hp1 NA19054.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0154 a0001c0002t0001g0006 a0001c0002t0001g0089 others(10): Show a0001c0001t0001g0154 a0001c0002t0001g0006 a0001c0002t0001g0089 a0001c0002t0001g0137 a0001c0002t0002g0013 a0001c0002t0002g0037 a0001c0002t0002g0052 a0001c0002t0002g0057 a0001c0002t0002g0080 a0001c0002t0002g0085 a0001c0002t0002g0093 a0001c0002t0002g0259 a0001c0002t0002g0260	13	278	0.0468	14	c.112 others(31): Show c.1128+511_1128+524dupTGTGTGTGTGTGTG	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DNM3_chr1_171836498_172417717	171875813	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0016 a0001c0002t0016g0016	1	136	0.0074	14	c.161 others(33): Show c.161+33999_161+34012dupTTTTTTTTTTTTTT	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172027617	C C	CACACACA others(7): Show CACACACACACACAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0049 a0001c0001t0013g0049	1	136	0.0074	14	c.590 others(31): Show c.590-4784_590-4783insCACACACACACAGA	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172027617	C C	CACACACA others(7): Show CACACACACACAGAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02572.hp2 HG01192.hp1 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0019 a0001c0002t0004 a0001c0002t0019	a0001c0002t0004g0046 a0001c0002t0019g0045 a0001c0002t0004g0046 a0001c0002t0019g0045	2	136	0.0147	14	c.590 others(31): Show c.590-4784_590-4783insCACACACACAGAGA	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172071086	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03579.hp1 HG02572.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0028 a0001c0002t0001 a0001c0001t0028 a0001c0002t0001	a0001c0001t0028g0130 a0001c0002t0001g0048 a0001c0001t0028g0130 a0001c0002t0001g0048	2	136	0.0147	14	c.142 others(33): Show c.1422+2202_1422+2215dupATATATATATATAT	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172106844	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0068 a0001c0002t0005g0068	1	136	0.0074	14	c.154 others(35): Show c.1545+13971_1545+13972insTTTTTTTTTTTTTT	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	13/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172227271	G G	GATATATA others(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0087	1	136	0.0074	14	c.166 others(35): Show c.1660-26281_1660-26268dupATATATATATATAT	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172227304	A A	ATATATAT others(7): Show ATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	1	136	0.0074	14	c.166 others(35): Show c.1660-26268_1660-26267insATATATATATATGT	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172241239	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03041.hp2 HG02630.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0029 a0001c0002t0009 a0001c0002t0029	a0001c0002t0009g0075 a0001c0002t0029g0025 a0001c0002t0009g0075 a0001c0002t0029g0025	2	136	0.0147	14	c.166 others(35): Show c.1660-12321_1660-12308dupTGTGTGTGTGTGTG	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172276557	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp2 HG02083.hp1 others(14): Show HG01192.hp1 HG01192.hp2 HG02083.hp1 HG02451.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG03942.hp1 HG04184.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA19043.hp2 NA19074.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0023 a0001c0008t0026	a0001c0001t0001g0001 a0001c0001t0001g0072 a0001c0001t0001g0073 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0099 a0001c0001t0002g0055 a0001c0001t0002g0110 a0001c0001t0003g0088 a0001c0001t0003g0093 a0001c0001t0006g0023 a0001c0002t0001g0076 a0001c0002t0001g0094 a0001c0002t0001g0135 a0001c0002t0002g0129 a0001c0002t0004g0046 a0001c0002t0007g0084 a0001c0002t0023g0119 a0001c0008t0026g0113	17	136	0.1250	14	c.176 others(35): Show c.1769+22891_1769+22904dupGTGTGTGTGTGTGT	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172283780	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03486.hp2 HG03490.hp1 HG02922.hp2 HG03486.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0001 a0001c0002t0012 a0001c0001t0008 a0001c0002t0001 a0001c0002t0012	a0001c0001t0008g0095 a0001c0002t0001g0069 a0001c0002t0012g0124 a0001c0001t0008g0095 a0001c0002t0001g0069 a0001c0002t0012g0124	3	136	0.0221	14	c.177 others(35): Show c.1770-24945_1770-24944insAAAAAAAAAAGAAA	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172304206	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18981.hp2 NA19010.hp2 others(1): Show HG02071.hp1 NA18981.hp2 NA19010.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0039 a0001c0001t0001g0081 a0001c0001t0001g0089 others(1): Show a0001c0001t0001g0039 a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0003g0043	4	136	0.0294	14	c.177 others(33): Show c.1770-4519_1770-4506dupAAAAAAAAAAAAAA	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172304222	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp1 HG02809.hp2 others(4): Show HG02258.hp1 HG02451.hp1 HG02809.hp2 HG02976.hp2 HG03209.hp2 NA19043.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 a0001c0002t0009 a0001c0002t0010 a0001c0002t0012	a0001c0001t0001g0001 a0001c0002t0001g0027 a0001c0002t0006g0013 others(4): Show a0001c0001t0001g0001 a0001c0002t0001g0027 a0001c0002t0006g0013 a0001c0002t0009g0115 a0001c0002t0010g0133 a0001c0002t0010g0134 a0001c0002t0012g0101	7	136	0.0515	14	c.177 others(33): Show c.1770-4506_1770-4505insAAAAAAAAAAAAAC	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	15/20			chr1	TogoVar
DNM3_chr1_171836498_172417717	172354108	T T	TGAGAGAG others(7): Show TGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0042 a0001c0001t0005g0042	1	136	0.0074	14	c.189 others(35): Show c.1894-24909_1894-24908insAGAGAGAGAGAGAG	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)