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
CEP128_chr14_80491479_80946738	80740449	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01175.hp1 HG01433.hp2 others(4): Show HG00642.hp2 HG01175.hp1 HG01433.hp2 HG02083.hp2 HG02132.hp2 HG02602.hp1 HG03139.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0005 a0003c0003t0002 others(1): Show a0001c0001t0002 a0001c0001t0005 a0003c0003t0002 a0003c0003t0006	a0001c0001t0002g0112 a0001c0001t0005g0005 a0003c0003t0002g0120 others(4): Show a0001c0001t0002g0112 a0001c0001t0005g0005 a0003c0003t0002g0120 a0003c0003t0002g0127 a0003c0003t0002g0164 a0003c0003t0006g0116 a0003c0003t0006g0117	7	164	0.0427	12	c.280 others(31): Show c.2806+2614_2806+2625dupGTGTGTGTGTGT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80810323	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01934.hp1 HG02572.hp2 others(12): Show HG00733.hp2 HG01934.hp1 HG02572.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03492.hp2 HG04115.hp2 NA18906.hp1 NA18995.hp2 NA19030.hp1 NA19043.hp2 NA19072.hp1 NA19079.hp2 NA19091.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0005c0005t0001	a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0029 others(12): Show a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0060 a0001c0001t0002g0128 a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0054 a0005c0005t0001g0028 a0005c0005t0001g0055	15	164	0.0915	12	c.121 others(33): Show c.1210-17225_1210-17214dupTTTTTTTTTTTT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	13/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80811818	T T	TTAGATAG others(5): Show TTAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01081.hp1 HG01934.hp2 others(21): Show HG00741.hp1 HG01081.hp1 HG01934.hp2 HG02004.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02738.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03492.hp1 NA18522.hp1 NA18906.hp2 NA18947.hp1 NA18952.hp1 NA18980.hp1 NA19007.hp2 NA19012.hp2 NA19030.hp2 NA19240.hp2 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0007	a0001c0001 a0002c0002 a0002c0006 others(5): Show a0001c0001 a0002c0002 a0002c0006 a0004c0004 a0004c0013 a0005c0005 a0006c0007 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0003 a0002c0002t0004 a0002c0002t0010 a0002c0002t0015 a0002c0006t0003 a0004c0004t0003 a0004c0013t0007 a0005c0005t0001 a0006c0007t0004 a0007c0010t0001 a0007c0010t0005	a0001c0001t0001g0003 a0001c0001t0002g0157 a0001c0001t0005g0002 others(21): Show a0001c0001t0001g0003 a0001c0001t0002g0157 a0001c0001t0005g0002 a0001c0001t0005g0004 a0001c0001t0005g0005 a0001c0001t0005g0061 a0002c0002t0003g0076 a0002c0002t0003g0078 a0002c0002t0003g0084 a0002c0002t0003g0141 a0002c0002t0004g0073 a0002c0002t0004g0074 a0002c0002t0004g0082 a0002c0002t0004g0146 a0002c0002t0010g0010 a0002c0002t0015g0075 a0002c0006t0003g0144 a0002c0006t0003g0145 a0004c0004t0003g0086 a0004c0013t0007g0095 a0005c0005t0001g0028 a0006c0007t0004g0148 a0007c0010t0001g0057 a0007c0010t0005g0056	24	164	0.1463	12	c.121 others(33): Show c.1210-18720_1210-18709dupTCTATCTATCTA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	13/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80921552	C C	CTAAGTCT others(5): Show CTAAGTCTTTATA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0084 a0002c0002t0003g0084	1	164	0.0061	12	c.-15 others(29): Show c.-15-4991_-15-4990insTATAAAGACTTA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	2/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80935556	C C	CAATAAAT others(5): Show CAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18952.hp1 HG03098.hp1 NA18952.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0003 a0005c0005t0009 a0002c0002t0003 a0005c0005t0009	a0002c0002t0003g0076 a0005c0005t0009g0050 a0002c0002t0003g0076 a0005c0005t0009g0050	2	164	0.0122	12	c.-16 others(29): Show c.-16+3817_-16+3828dupTATTTATTTATT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	2/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80935646	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18942.hp2 NA18979.hp1 others(4): Show HG02165.hp1 NA18942.hp2 NA18979.hp1 NA19007.hp1 NA19072.hp2 NA19086.hp1 NA19086.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0019 a0003c0003 others(1): Show a0001c0001 a0001c0019 a0003c0003 a0008c0011	a0001c0001t0002 a0001c0019t0002 a0003c0003t0002 others(1): Show a0001c0001t0002 a0001c0019t0002 a0003c0003t0002 a0008c0011t0002	a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0019t0002g0123 others(4): Show a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0019t0002g0123 a0003c0003t0002g0098 a0003c0003t0002g0125 a0003c0003t0002g0126 a0008c0011t0002g0121	7	164	0.0427	12	c.-16 others(29): Show c.-16+3727_-16+3738dupTTTTTTTTTTTT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	2/24			chr14	TogoVar
CEP131_chr17_81184596_81227965	81225001	C C	CTTATTTA others(5): Show CTTATTTATTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0005 a0005c0006t0001g0005	1	384	0.0026	12	c.-22 others(23): Show c.-2251_-2250insATAAATAAATAA	CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding		2037		chr17	TogoVar
CEP135_chr4_55943945_56038361	55947043	C C	CAAAACAA others(5): Show CAAAACAAAAACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 NA18522.hp2 HG01515.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0243 a0001c0001t0005g0254 a0001c0001t0005g0243 a0001c0001t0005g0254	2	346	0.0058	12	c.-20 others(23): Show c.-2062_-2061insAAAACAAAAACA	CEP135	ENSG00000174799.12	transcript	ENST00000257287.5	protein_coding		1901		chr4	TogoVar
CEP135_chr4_55943945_56038361	55961764	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	346	0.0029	12	c.699 others(29): Show c.699+2018_699+2029dupAAAAAAAAAAAA	CEP135	ENSG00000174799.12	transcript	ENST00000257287.5	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
CEP135_chr4_55943945_56038361	56032847	A A	AGTGTGTG others(5): Show AGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG02148.hp2 HG02451.hp1 others(3): Show HG00639.hp1 HG02148.hp2 HG02451.hp1 HG02896.hp1 HG03453.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0024 a0001c0001t0025 a0001c0001t0010 a0001c0001t0024 a0001c0001t0025	a0001c0001t0010g0008 a0001c0001t0010g0056 a0001c0001t0010g0057 others(3): Show a0001c0001t0010g0008 a0001c0001t0010g0056 a0001c0001t0010g0057 a0001c0001t0010g0106 a0001c0001t0024g0307 a0001c0001t0025g0007	6	346	0.0173	12	c.15 others(23): Show c.1512_*1523dupGTGTGTGTGTGT	CEP135	ENSG00000174799.12	transcript	ENST00000257287.5	protein_coding	26/26	8269	INFO_REALIGN_3_PRIME	chr4	TogoVar
CEP152_chr15_48732938_48816069	48758718	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01070.hp2 HG01071.hp1 others(2): Show HG00099.hp2 HG01070.hp2 HG01071.hp1 HG02922.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0004 a0001c0016t0004 a0001c0001t0004 a0001c0016t0004	a0001c0001t0004g0049 a0001c0001t0004g0086 a0001c0001t0004g0129 others(2): Show a0001c0001t0004g0049 a0001c0001t0004g0086 a0001c0001t0004g0129 a0001c0001t0004g0136 a0001c0016t0004g0110	5	342	0.0146	12	c.269 others(31): Show c.2694+1405_2694+1416dupTTTTTTTTTTTT	CEP152	ENSG00000103995.14	transcript	ENST00000380950.7	protein_coding	19/26			chr15	TogoVar
CEP152_chr15_48732938_48816069	48765636	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03486.hp1 NA18992.hp2 HG03041.hp1 HG03486.hp1 NA18992.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0012 a0001c0001 a0006c0012	a0001c0001t0001 a0001c0001t0002 a0006c0012t0001 a0001c0001t0001 a0001c0001t0002 a0006c0012t0001	a0001c0001t0001g0100 a0001c0001t0002g0289 a0006c0012t0001g0077 a0001c0001t0001g0100 a0001c0001t0002g0289 a0006c0012t0001g0077	3	342	0.0088	12	c.228 others(31): Show c.2280+1412_2280+1423dupAAAAAAAAAAAA	CEP152	ENSG00000103995.14	transcript	ENST00000380950.7	protein_coding	17/26			chr15	TogoVar
CEP152_chr15_48732938_48816069	48777466	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01106.hp1 HG02165.hp2 others(5): Show HG00323.hp1 HG01106.hp1 HG02165.hp2 HG03669.hp2 HG03927.hp1 HG04115.hp1 NA18943.hp1 NA18962.hp2	a0001 a0002 a0013 others(1): Show a0001 a0002 a0013 a0028	a0001c0001 a0002c0002 a0013c0035 others(1): Show a0001c0001 a0002c0002 a0013c0035 a0028c0033	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0013c0035t0001 a0028c0033t0001	a0001c0001t0001g0043 a0001c0001t0001g0112 a0001c0001t0002g0316 others(5): Show a0001c0001t0001g0043 a0001c0001t0001g0112 a0001c0001t0002g0316 a0001c0001t0002g0318 a0001c0001t0002g0319 a0002c0002t0002g0271 a0013c0035t0001g0071 a0028c0033t0001g0113	8	342	0.0234	12	c.157 others(31): Show c.1577+3718_1577+3729dupCACACACACACA	CEP152	ENSG00000103995.14	transcript	ENST00000380950.7	protein_coding	12/26			chr15	TogoVar
CEP152_chr15_48732938_48816069	48787163	G G	GTTTTTTT others(5): Show GTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0018 a0007c0006t0001g0018	1	342	0.0029	12	c.117 others(31): Show c.1173+1626_1173+1637dupAAAAAAAAAAAA	CEP152	ENSG00000103995.14	transcript	ENST00000380950.7	protein_coding	9/26			chr15	TogoVar
CEP162_chr6_84119250_84232643	84154330	A A	ATCTGTCT others(5): Show ATCTGTCTGTCTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01256.hp1 HG01258.hp1 others(15): Show HG01109.hp1 HG01256.hp1 HG01258.hp1 HG02257.hp2 HG02486.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03471.hp2 HG03486.hp2 HG03579.hp2 NA19030.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0007 a0002c0002 a0001c0004 a0001c0007 a0002c0002	a0001c0004t0002 a0001c0004t0007 a0001c0004t0010 others(2): Show a0001c0004t0002 a0001c0004t0007 a0001c0004t0010 a0001c0007t0002 a0002c0002t0002	a0001c0004t0002g0012 a0001c0004t0002g0095 a0001c0004t0002g0102 others(14): Show a0001c0004t0002g0012 a0001c0004t0002g0095 a0001c0004t0002g0102 a0001c0004t0002g0103 a0001c0004t0002g0114 a0001c0004t0002g0189 a0001c0004t0002g0190 a0001c0004t0002g0210 a0001c0004t0007g0207 a0001c0004t0010g0104 a0001c0007t0002g0017 a0001c0007t0002g0018 a0001c0007t0002g0116 a0001c0007t0002g0117 a0001c0007t0002g0118 a0002c0002t0002g0003 a0002c0002t0002g0194	18	214	0.0841	12	c.299 others(29): Show c.2994+956_2994+967dupCAGACAGACAGA	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	22/26			chr6	TogoVar
CEP162_chr6_84119250_84232643	84154358	G G	GTCTGTCT others(5): Show GTCTGTCTGTCTA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0002 a0005c0010t0002	a0005c0010t0002g0163 a0005c0010t0002g0163	1	214	0.0047	12	c.299 others(29): Show c.2994+939_2994+940insTAGACAGACAGA	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	22/26			chr6	TogoVar
CEP162_chr6_84119250_84232643	84156743	G G	GACACACA others(5): Show GACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG01257.hp2 others(12): Show HG01109.hp1 HG01243.hp2 HG01257.hp2 HG01928.hp2 HG02148.hp1 HG02258.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02735.hp1 HG02886.hp1 HG02976.hp2 HG03139.hp2 HG03834.hp2 HG03942.hp1	a0001 a0003 a0008 others(1): Show a0001 a0003 a0008 a0011	a0001c0004 a0003c0003 a0003c0021 others(2): Show a0001c0004 a0003c0003 a0003c0021 a0008c0014 a0011c0018	a0001c0004t0002 a0001c0004t0007 a0001c0004t0010 others(4): Show a0001c0004t0002 a0001c0004t0007 a0001c0004t0010 a0003c0003t0003 a0003c0021t0003 a0008c0014t0004 a0011c0018t0003	a0001c0004t0002g0189 a0001c0004t0002g0190 a0001c0004t0007g0207 others(12): Show a0001c0004t0002g0189 a0001c0004t0002g0190 a0001c0004t0007g0207 a0001c0004t0010g0104 a0003c0003t0003g0042 a0003c0003t0003g0045 a0003c0003t0003g0046 a0003c0003t0003g0047 a0003c0003t0003g0048 a0003c0003t0003g0091 a0003c0003t0003g0165 a0003c0003t0003g0166 a0003c0021t0003g0049 a0008c0014t0004g0115 a0011c0018t0003g0039	15	214	0.0701	12	c.278 others(31): Show c.2782-1245_2782-1234dupGTGTGTGTGTGT	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	21/26			chr6	TogoVar
CEP162_chr6_84119250_84232643	84223500	A A	AAAATAAA others(5): Show AAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02970.hp2 HG02647.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0199 a0001c0001t0002g0200	2	214	0.0094	12	c.58- others(27): Show c.58-2341_58-2330dupATTTATTTATTT	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	2/26			chr6	TogoVar
CEP164_chr11_117322854_117418266	117331981	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0024 a0002c0001t0024	a0002c0001t0024g0089 a0002c0001t0024g0089	1	390	0.0026	12	c.-97 others(29): Show c.-97-3613_-97-3602dupATATATATATAT	CEP164	ENSG00000110274.16	transcript	ENST00000278935.8	protein_coding	1/32		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP164_chr11_117322854_117418266	117337510	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02976.hp2 others(1): Show HG02109.hp2 HG02451.hp2 HG02976.hp2 NA18991.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0006 a0003c0003 a0005c0006	a0003c0003t0004 a0005c0006t0007 a0003c0003t0004 a0005c0006t0007	a0003c0003t0004g0099 a0005c0006t0007g0049 a0005c0006t0007g0075 others(1): Show a0003c0003t0004g0099 a0005c0006t0007g0049 a0005c0006t0007g0075 a0005c0006t0007g0076	4	390	0.0103	12	c.-21 others(29): Show c.-21-1053_-21-1042dupAAAAAAAAAAAA	CEP164	ENSG00000110274.16	transcript	ENST00000278935.8	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP164_chr11_117322854_117418266	117393155	G G	GCACACAC others(5): Show GCACACACATGCA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0214 a0002c0001t0003g0218 a0002c0001t0003g0214 a0002c0001t0003g0218	2	390	0.0051	12	c.261 others(27): Show c.2616+43_2616+54dupACACACATGCAC	CEP164	ENSG00000110274.16	transcript	ENST00000278935.8	protein_coding	20/32		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP164_chr11_117322854_117418266	117416446	A A	AAAAAAAA others(5): Show AAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01074.hp1 HG01884.hp1 others(10): Show HG00323.hp1 HG01074.hp1 HG01884.hp1 HG02055.hp2 HG02145.hp2 HG02451.hp1 HG02683.hp1 HG03704.hp1 NA19000.hp2 NA19090.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp1	a0002 a0004 a0008 others(1): Show a0002 a0004 a0008 a0024	a0002c0001 a0004c0009 a0004c0015 others(3): Show a0002c0001 a0004c0009 a0004c0015 a0004c0034 a0008c0011 a0024c0030	a0002c0001t0003 a0002c0001t0009 a0004c0009t0008 others(4): Show a0002c0001t0003 a0002c0001t0009 a0004c0009t0008 a0004c0015t0003 a0004c0034t0007 a0008c0011t0007 a0024c0030t0021	a0002c0001t0003g0096 a0002c0001t0003g0210 a0002c0001t0003g0255 others(10): Show a0002c0001t0003g0096 a0002c0001t0003g0210 a0002c0001t0003g0255 a0002c0001t0003g0263 a0002c0001t0009g0192 a0004c0009t0008g0021 a0004c0009t0008g0022 a0004c0009t0008g0023 a0004c0009t0008g0026 a0004c0015t0003g0025 a0004c0034t0007g0039 a0008c0011t0007g0028 a0024c0030t0021g0038	13	390	0.0333	12	c.42 others(23): Show c.4278_*4279insAAAAAAAAAAAG	CEP164	ENSG00000110274.16	transcript	ENST00000278935.8	protein_coding		3181		chr11	TogoVar
CEP170B_chr14_104860268_104901747	104889905	A A	AATGGATG others(5): Show AATGGATGGATGG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03516.hp1 HG03516.hp2 HG01167.hp1 HG03516.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0085 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0085	3	328	0.0092	12	c.387 others(29): Show c.3878+183_3878+194dupGATGGATGGATG	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CEP170B_chr14_104860268_104901747	104890390	G G	GTGGATGG others(5): Show GTGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02109.hp1 HG02109.hp2 others(7): Show HG00733.hp1 HG02109.hp1 HG02109.hp2 HG02451.hp2 HG02559.hp1 HG02622.hp2 HG02723.hp1 HG06807.hp1 NA18522.hp1 NA19030.hp1	a0001 a0004 a0022 others(2): Show a0001 a0004 a0022 a0028 a0030	a0001c0014 a0001c0058 a0001c0059 others(5): Show a0001c0014 a0001c0058 a0001c0059 a0004c0021 a0004c0081 a0022c0079 a0028c0045 a0030c0040	a0001c0014t0001 a0001c0058t0001 a0001c0059t0001 others(5): Show a0001c0014t0001 a0001c0058t0001 a0001c0059t0001 a0004c0021t0006 a0004c0081t0006 a0022c0079t0001 a0028c0045t0001 a0030c0040t0011	a0001c0014t0001g0077 a0001c0058t0001g0076 a0001c0059t0001g0075 others(7): Show a0001c0014t0001g0077 a0001c0058t0001g0076 a0001c0059t0001g0075 a0004c0021t0006g0245 a0004c0021t0006g0246 a0004c0021t0006g0248 a0004c0081t0006g0247 a0022c0079t0001g0033 a0028c0045t0001g0144 a0030c0040t0011g0273	10	328	0.0305	12	c.387 others(29): Show c.3878+651_3878+662dupGATGGATGGATG	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CEP170B_chr14_104860268_104901747	104890566	G G	GTGGATGG others(5): Show GTGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01255.hp1 HG02258.hp1 others(20): Show HG01167.hp2 HG01255.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03471.hp2 HG03486.hp1 NA18522.hp2 NA18906.hp1 NA20129.hp1	a0001 a0011 a0001 a0011	a0001c0005 a0001c0008 a0001c0018 others(3): Show a0001c0005 a0001c0008 a0001c0018 a0001c0071 a0001c0074 a0011c0027	a0001c0005t0003 a0001c0008t0003 a0001c0018t0003 others(3): Show a0001c0005t0003 a0001c0008t0003 a0001c0018t0003 a0001c0071t0003 a0001c0074t0002 a0011c0027t0003	a0001c0005t0003g0014 a0001c0005t0003g0032 a0001c0005t0003g0251 others(16): Show a0001c0005t0003g0014 a0001c0005t0003g0032 a0001c0005t0003g0251 a0001c0005t0003g0253 a0001c0005t0003g0254 a0001c0005t0003g0255 a0001c0005t0003g0256 a0001c0005t0003g0257 a0001c0005t0003g0260 a0001c0008t0003g0014 a0001c0008t0003g0261 a0001c0008t0003g0262 a0001c0008t0003g0265 a0001c0008t0003g0266 a0001c0008t0003g0267 a0001c0018t0003g0013 a0001c0071t0003g0252 a0001c0074t0002g0161 a0011c0027t0003g0263	23	328	0.0701	12	c.387 others(29): Show c.3878+820_3878+831dupATGGATGGATGG	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CEP170B_chr14_104860268_104901747	104890698	G G	GTGGATGG others(5): Show GTGGATGGATGGA	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0013 a0001c0035t0013	a0001c0035t0013g0158 a0001c0035t0013g0158	1	328	0.0031	12	c.387 others(29): Show c.3878+947_3878+958dupGATGGATGGATG	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CEP170_chr1_243119428_243260281	243119948	T T	TACCCATC others(5): Show TACCCATCCATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp2 HG03471.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0056 a0002c0002t0003g0121 a0001c0001t0001g0056 a0002c0002t0003g0121	2	303	0.0066	12	c.65 others(23): Show c.6500_*6501insGGATGGATGGGT	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding		4479		chr1	TogoVar
CEP170_chr1_243119428_243260281	243159763	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02258.hp1 HG02615.hp1 others(10): Show HG00738.hp2 HG02258.hp1 HG02615.hp1 HG02630.hp2 HG02723.hp1 HG02976.hp2 HG03209.hp1 HG03540.hp1 NA18943.hp2 NA18959.hp2 NA18964.hp1 NA18981.hp1 NA18983.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0003 a0001c0001 a0002c0004 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0004t0001 a0002c0004t0012 a0003c0003t0003	a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 others(10): Show a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0002g0093 a0001c0001t0002g0226 a0001c0001t0002g0232 a0001c0001t0002g0268 a0001c0001t0002g0273 a0001c0001t0002g0274 a0002c0004t0001g0132 a0002c0004t0012g0296 a0003c0003t0003g0150 a0003c0003t0003g0151	13	303	0.0429	12	c.367 others(31): Show c.3677-3320_3677-3309dupCACACACACACA	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	13/19			chr1	TogoVar
CEP170_chr1_243119428_243260281	243231190	C C	CATCATCA others(5): Show CATCATCATCATT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0165 a0002c0002t0001g0165	1	303	0.0033	12	c.-41 others(29): Show c.-41-5870_-41-5869insAATGATGATGAT	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	1/19			chr1	TogoVar
CEP170_chr1_243119428_243260281	243254187	A A	AAAATAAA others(5): Show AAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01981.hp1 HG02258.hp2 others(5): Show HG01106.hp1 HG01981.hp1 HG02258.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp2 HG03209.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0096 a0001c0001t0001g0115 a0001c0001t0001g0116 others(5): Show a0001c0001t0001g0096 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0002g0009 a0001c0001t0002g0095	8	303	0.0264	12	c.-42 others(27): Show c.-42+841_-42+852dupATTTATTTATTT	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	1/19			chr1	TogoVar
CEP192_chr18_12986362_13130036	13000091	C C	CTCTCTTT others(5): Show CTCTCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18954.hp2 NA18965.hp2 HG00423.hp2 NA18954.hp2 NA18965.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0333 a0002c0001t0001g0334 a0002c0001t0001g0335 a0002c0001t0001g0333 a0002c0001t0001g0334 a0002c0001t0001g0335	3	392	0.0077	12	c.164 others(27): Show c.164+504_164+505insCTCTTTTTTTTT	CEP192	ENSG00000101639.19	transcript	ENST00000506447.5	protein_coding	2/44		INFO_REALIGN_3_PRIME	chr18	TogoVar
CEP192_chr18_12986362_13130036	13066963	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02717.hp1 HG02818.hp2 others(21): Show HG00621.hp2 HG02717.hp1 HG02818.hp2 HG02886.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp1 HG03654.hp1 NA18944.hp1 NA18954.hp1 NA18966.hp1 NA18970.hp1 NA18983.hp1 NA18985.hp2 NA19002.hp2 NA19005.hp2 NA19043.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0005 a0009 a0011 others(3): Show a0005 a0009 a0011 a0014 a0030 a0035	a0005c0005 a0009c0009 a0011c0011 others(3): Show a0005c0005 a0009c0009 a0011c0011 a0014c0014 a0030c0039 a0035c0044	a0005c0005t0001 a0009c0009t0001 a0011c0011t0001 others(3): Show a0005c0005t0001 a0009c0009t0001 a0011c0011t0001 a0014c0014t0001 a0030c0039t0001 a0035c0044t0001	a0005c0005t0001g0013 a0005c0005t0001g0117 a0005c0005t0001g0126 others(17): Show a0005c0005t0001g0013 a0005c0005t0001g0117 a0005c0005t0001g0126 a0005c0005t0001g0151 a0005c0005t0001g0154 a0005c0005t0001g0155 a0005c0005t0001g0156 a0005c0005t0001g0157 a0005c0005t0001g0158 a0005c0005t0001g0160 a0005c0005t0001g0162 a0005c0005t0001g0164 a0005c0005t0001g0173 a0009c0009t0001g0003 a0009c0009t0001g0218 a0011c0011t0001g0290 a0014c0014t0001g0012 a0014c0014t0001g0013 a0030c0039t0001g0152 a0035c0044t0001g0165	24	392	0.0612	12	c.448 others(29): Show c.4489-843_4489-832dupTGTGTGTGTGTG	CEP192	ENSG00000101639.19	transcript	ENST00000506447.5	protein_coding	21/44		INFO_REALIGN_3_PRIME	chr18	TogoVar
CEP192_chr18_12986362_13130036	13066969	G G	GTGTGTGT others(5): Show GTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03041.hp1 HG03195.hp2 others(5): Show HG02976.hp1 HG03041.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03516.hp1 HG03579.hp2 NA19043.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0338 a0002c0001t0001g0339 a0002c0001t0001g0340 others(5): Show a0002c0001t0001g0338 a0002c0001t0001g0339 a0002c0001t0001g0340 a0002c0001t0001g0341 a0002c0001t0001g0342 a0002c0001t0001g0343 a0002c0001t0001g0360 a0002c0001t0001g0361	8	392	0.0204	12	c.448 others(29): Show c.4489-851_4489-850insATGTGTGTGTGT	CEP192	ENSG00000101639.19	transcript	ENST00000506447.5	protein_coding	21/44		INFO_REALIGN_3_PRIME	chr18	TogoVar
CEP20_chr16_15860719_15893603	15882774	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18990.hp2 HG03831.hp2 NA18990.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0032 a0002c0002t0004g0032	2	433	0.0046	12	c.226 others(29): Show c.226+1233_226+1234insGTGTGTGTGTGT	CEP20	ENSG00000133393.13	transcript	ENST00000255759.11	protein_coding	2/4			chr16	TogoVar
CEP20_chr16_15860719_15893603	15882780	T T	TATACACA others(5): Show TATACACACACAC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0081 a0002c0002t0004g0081	1	433	0.0023	12	c.226 others(29): Show c.226+1227_226+1228insGTGTGTGTGTAT	CEP20	ENSG00000133393.13	transcript	ENST00000255759.11	protein_coding	2/4			chr16	TogoVar
CEP20_chr16_15860719_15893603	15890556	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG02486.hp1 HG02486.hp2 others(14): Show HG01496.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG03209.hp2 HG03688.hp1 HG06807.hp2 NA18982.hp2 NA19070.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0004 a0003c0003t0004	a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0046 others(10): Show a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0002g0219 a0001c0001t0005g0069 a0002c0002t0004g0009 a0002c0002t0004g0084 a0003c0003t0004g0030	17	433	0.0393	12	c.-19 others(23): Show c.-1972_-1971insTTTTTTTTTTTT	CEP20	ENSG00000133393.13	transcript	ENST00000255759.11	protein_coding		1954		chr16	TogoVar
CEP20_chr16_15860719_15893603	15891647	C C	CCCTTCCT others(5): Show CCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 NA18941.hp2 NA18967.hp1 others(2): Show HG02080.hp1 NA18941.hp2 NA18967.hp1 NA19056.hp2 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0015 a0002c0002t0004g0097 a0002c0002t0004g0099 a0002c0002t0004g0015 a0002c0002t0004g0097 a0002c0002t0004g0099	5	433	0.0116	12	c.-30 others(23): Show c.-3063_-3062insAAGGAAGGAAGG	CEP20	ENSG00000133393.13	transcript	ENST00000255759.11	protein_coding		3045		chr16	TogoVar
CEP295_chr11_93656682_93735358	93685700	C C	CTTTGTTT others(5): Show CTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19057.hp2 NA19067.hp2 others(1): Show NA19011.hp1 NA19057.hp2 NA19067.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0168 a0001c0001t0001g0237 others(1): Show a0001c0001t0001g0135 a0001c0001t0001g0168 a0001c0001t0001g0237 a0001c0001t0001g0249	4	354	0.0113	12	c.111 others(31): Show c.1114+1588_1114+1599dupGTTTGTTTGTTT	CEP295	ENSG00000166004.15	transcript	ENST00000325212.11	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP350_chr1_179949810_180119875	179991667	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA18950.hp1 HG02895.hp2 NA18950.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0007 a0001c0001t0001 a0002c0002t0007	a0001c0001t0001g0157 a0002c0002t0007g0069 a0001c0001t0001g0157 a0002c0002t0007g0069	2	248	0.0081	12	c.236 others(27): Show c.236-365_236-354dupGTGTGTGTGTGT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	179991707	G G	GTGTGTGT others(5): Show GTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02976.hp2 HG02559.hp2 HG02976.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0127 a0005c0005t0002g0137 a0005c0005t0002g0127 a0005c0005t0002g0137	2	248	0.0081	12	c.236 others(27): Show c.236-354_236-353insGTGTGTATATAT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	179991707	G G	GTGTGTGT others(5): Show GTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0149 a0001c0011t0001g0149	1	248	0.0040	12	c.236 others(27): Show c.236-354_236-353insGTGTGTGTATAT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	179991707	G G	GTGTGTGT others(5): Show GTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01928.hp2 HG02080.hp2 others(8): Show HG00597.hp2 HG01928.hp2 HG02080.hp2 HG02895.hp1 HG02897.hp2 HG03516.hp2 NA18946.hp2 NA18990.hp2 NA18995.hp2 NA19002.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0168 others(8): Show a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0168 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0227 a0001c0001t0012g0195	11	248	0.0444	12	c.236 others(27): Show c.236-354_236-353insGTGTGTGTGTAT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	180004864	A A	AGGCTGGC others(5): Show AGGCTGGCTGGCT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0010 a0010	a0010c0029 a0010c0029	a0010c0029t0010 a0010c0029t0010	a0010c0029t0010g0011 a0010c0029t0010g0011	1	248	0.0040	12	c.113 others(31): Show c.1132+1578_1133-1578dupGGCTGGCTGGCT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	7/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	180004902	G G	GCTTTCTT others(5): Show GCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA19030.hp2 NA19062.hp2 others(1): Show HG02040.hp1 NA19030.hp2 NA19062.hp2 NA19084.hp1	a0003 a0010 a0003 a0010	a0003c0003 a0010c0029 a0003c0003 a0010c0029	a0003c0003t0002 a0010c0029t0010 a0003c0003t0002 a0010c0029t0010	a0003c0003t0002g0109 a0003c0003t0002g0118 a0003c0003t0002g0119 others(1): Show a0003c0003t0002g0109 a0003c0003t0002g0118 a0003c0003t0002g0119 a0010c0029t0010g0011	4	248	0.0161	12	c.113 others(31): Show c.1133-1549_1133-1548insTCTTTCTTTCTT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	7/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	180004906	G G	GCTTGCTT others(5): Show GCTTGCTTGCTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18990.hp1 HG02165.hp1 NA18990.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0093 a0003c0003t0002g0116 a0003c0003t0002g0093 a0003c0003t0002g0116	2	248	0.0081	12	c.113 others(31): Show c.1133-1545_1133-1544insGCTTGCTTTCTT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	7/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	180004906	G G	GCTTGCTT others(5): Show GCTTGCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0022 a0022	a0022c0028 a0022c0028	a0022c0028t0010 a0022c0028t0010	a0022c0028t0010g0012 a0022c0028t0010g0012	1	248	0.0040	12	c.113 others(31): Show c.1133-1545_1133-1544insGCTTTCTTTCTT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	7/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	180004906	G G	GCTTTCTT others(5): Show GCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02486.hp1 HG02698.hp1 others(6): Show HG01175.hp1 HG02486.hp1 HG02698.hp1 HG02717.hp2 HG02809.hp1 HG03195.hp1 NA18941.hp1 NA18988.hp2 NA18998.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0008	a0002c0002 a0003c0003 a0004c0004 others(1): Show a0002c0002 a0003c0003 a0004c0004 a0008c0009	a0002c0002t0002 a0002c0002t0005 a0002c0002t0016 others(3): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0016 a0003c0003t0002 a0004c0004t0003 a0008c0009t0008	a0002c0002t0002g0247 a0002c0002t0005g0136 a0002c0002t0016g0246 others(6): Show a0002c0002t0002g0247 a0002c0002t0005g0136 a0002c0002t0016g0246 a0003c0003t0002g0117 a0003c0003t0002g0120 a0003c0003t0002g0121 a0004c0004t0003g0057 a0004c0004t0003g0064 a0008c0009t0008g0007	9	248	0.0363	12	c.113 others(31): Show c.1133-1510_1133-1499dupTTTCTTTCTTTC	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	7/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	180007839	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02080.hp1 HG02165.hp2 others(3): Show HG01496.hp1 HG02080.hp1 HG02165.hp2 HG02559.hp2 HG02717.hp1 NA18988.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0011 a0005c0005 a0001c0001 a0001c0011 a0005c0005	a0001c0001t0001 a0001c0011t0001 a0005c0005t0002 a0001c0001t0001 a0001c0011t0001 a0005c0005t0002	a0001c0001t0001g0038 a0001c0001t0001g0179 a0001c0001t0001g0185 others(3): Show a0001c0001t0001g0038 a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0001g0209 a0001c0011t0001g0158 a0005c0005t0002g0137	6	248	0.0242	12	c.124 others(31): Show c.1246+1301_1246+1312dupGTGTGTGTGTGT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	8/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	180042132	T T	TCTCTCAC others(5): Show TCTCTCACACACA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0022 a0022	a0022c0028 a0022c0028	a0022c0028t0010 a0022c0028t0010	a0022c0028t0010g0012 a0022c0028t0010g0012	1	248	0.0040	12	c.436 others(29): Show c.4362+331_4362+332insTCTCACACACAC	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	19/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	180090545	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	248	0.0040	12	c.642 others(29): Show c.6426-155_6426-144dupAAAAAAAAAAAA	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	32/37		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)