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
C6orf89_chr6_36880952_36933964	36901318	ATTATTTT others(13): Show ATTATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(114): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01516.hp1 HG01934.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02165.hp2 HG02258.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02683.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03130.hp1 HG03225.hp2 HG03239.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18950.hp1 NA18952.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19056.hp2 NA19058.hp2 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19068.hp1 NA19072.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19080.hp1 NA19084.hp1 NA19089.hp2 NA19240.hp1 NA20752.hp2 NA20905.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0001c0003 a0003c0008 others(1): Show a0001c0002 a0001c0003 a0003c0008 a0004c0006	a0001c0002t0003 a0001c0002t0005 a0001c0002t0009 others(17): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0009 a0001c0002t0010 a0001c0002t0014 a0001c0002t0016 a0001c0002t0018 a0001c0002t0020 a0001c0002t0023 a0001c0002t0029 a0001c0002t0030 a0001c0002t0031 a0001c0002t0032 a0001c0002t0033 a0001c0002t0038 a0001c0003t0006 a0001c0003t0022 a0001c0003t0037 a0003c0008t0003 a0004c0006t0009	a0001c0002t0003g0001 a0001c0002t0003g0007 a0001c0002t0003g0010 others(78): Show a0001c0002t0003g0001 a0001c0002t0003g0007 a0001c0002t0003g0010 a0001c0002t0003g0021 a0001c0002t0003g0024 a0001c0002t0003g0062 a0001c0002t0003g0063 a0001c0002t0003g0064 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0069 a0001c0002t0003g0070 a0001c0002t0003g0073 a0001c0002t0003g0074 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0078 a0001c0002t0003g0079 a0001c0002t0003g0080 a0001c0002t0003g0081 a0001c0002t0003g0082 a0001c0002t0003g0083 a0001c0002t0003g0089 a0001c0002t0003g0179 a0001c0002t0005g0003 a0001c0002t0005g0015 a0001c0002t0005g0016 a0001c0002t0005g0178 a0001c0002t0005g0274 a0001c0002t0005g0277 a0001c0002t0005g0278 a0001c0002t0005g0279 a0001c0002t0005g0281 a0001c0002t0005g0282 a0001c0002t0005g0283 a0001c0002t0005g0290 a0001c0002t0009g0003 a0001c0002t0009g0271 a0001c0002t0009g0272 a0001c0002t0009g0275 a0001c0002t0009g0276 a0001c0002t0010g0001 a0001c0002t0010g0022 a0001c0002t0010g0072 a0001c0002t0010g0077 a0001c0002t0010g0092 a0001c0002t0014g0020 a0001c0002t0014g0065 a0001c0002t0014g0084 a0001c0002t0014g0088 a0001c0002t0016g0047 a0001c0002t0016g0264 a0001c0002t0016g0265 a0001c0002t0018g0013 a0001c0002t0020g0048 a0001c0002t0023g0096 a0001c0002t0023g0097 a0001c0002t0029g0058 a0001c0002t0030g0021 a0001c0002t0031g0187 a0001c0002t0032g0010 a0001c0002t0033g0001 a0001c0002t0038g0280 a0001c0003t0006g0012 a0001c0003t0006g0017 a0001c0003t0006g0018 a0001c0003t0006g0019 a0001c0003t0006g0050 a0001c0003t0006g0051 a0001c0003t0006g0053 a0001c0003t0006g0054 a0001c0003t0006g0055 a0001c0003t0006g0056 a0001c0003t0006g0057 a0001c0003t0006g0060 a0001c0003t0006g0090 a0001c0003t0006g0091 a0001c0003t0022g0012 a0001c0003t0037g0052 a0003c0008t0003g0001 a0004c0006t0009g0273	117	396	0.2955	-20	c.190 others(35): Show c.190-900_190-881delATTTTTTTTTTTTTTTTTTT	C6orf89	ENSG00000198663.17	transcript	ENST00000480824.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
C7_chr5_40904497_40989643	40968592	ATATATAT others(13): Show ATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0053 a0001c0001t0006g0053	1	380	0.0026	-20	c.188 others(39): Show c.1882+3721_1882+3740delATATATATTTTTTTTTTTTT	C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
C7orf33_chr7_148585766_148620860	148598747	TATATATA others(13): Show TATATATATATATATATAGAG	T T	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	444	0.0023	-20	c.204 others(37): Show c.204+7620_204+7639delTATATATATATATATAGAGA	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
C7orf33_chr7_148585766_148620860	148598751	TATATATA others(13): Show TATATATATATATAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0087 a0002c0002t0005g0087	1	444	0.0023	-20	c.204 others(37): Show c.204+7624_204+7643delTATATATATATAGAGAGAGA	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
C7orf33_chr7_148585766_148620860	148598753	TATATATA others(13): Show TATATATATATAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	444	0.0023	-20	c.204 others(37): Show c.204+7626_204+7645delTATATATATAGAGAGAGAGA	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
C7orf33_chr7_148585766_148620860	148598755	TATATATA others(13): Show TATATATATAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	444	0.0023	-20	c.204 others(37): Show c.204+7628_204+7647delTATATATAGAGAGAGAGAGA	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
C7orf33_chr7_148585766_148620860	148598757	TATATATA others(13): Show TATATATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA19240.hp1 HG02109.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0002 a0003c0009t0001 a0001c0001t0002 a0003c0009t0001	a0001c0001t0002g0017 a0003c0009t0001g0096 a0001c0001t0002g0017 a0003c0009t0001g0096	2	444	0.0045	-20	c.204 others(37): Show c.204+7630_204+7649delTATATAGAGAGAGAGAGAGA	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
C7orf33_chr7_148585766_148620860	148598759	TATATAGA others(13): Show TATATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0386 a0004c0005t0001g0386	1	444	0.0023	-20	c.204 others(37): Show c.204+7632_204+7651delTATAGAGAGAGAGAGAGAGA	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
C7orf33_chr7_148585766_148620860	148598763	TAGAGAGA others(13): Show TAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0350 a0001c0001t0001g0350	1	444	0.0023	-20	c.204 others(37): Show c.204+7668_204+7687delGAGAGAGAGAGAGAGAGAGA	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
C7orf50_chr7_992006_1143247	1009043	ACACACGT others(13): Show ACACACGTACACGTGCACGTG	A A	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0182 a0001c0001t0004g0182	1	326	0.0031	-20	c.323 others(35): Show c.323+887_323+906delCACGTGCACGTGTACGTGTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	3/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1016066	CCAGCGCA others(13): Show CCAGCGCACAGCAGCACACAG	C C	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	326	0.0031	-20	c.130 others(37): Show c.130-5943_130-5924delCTGTGTGCTGCTGTGCGCTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1016201	GCACGCCA others(13): Show GCACGCCAGCACACAGCAGCA	G G	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	326	0.0031	-20	c.130 others(37): Show c.130-6078_130-6059delTGCTGCTGTGTGCTGGCGTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1016270	CGCACGCC others(13): Show CGCACGCCAGCACACAGCAGT	C C	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	326	0.0031	-20	c.130 others(37): Show c.130-6147_130-6128delACTGCTGTGTGCTGGCGTGC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1016402	GCAGCACA others(13): Show GCAGCACACAGCAGCGCACGC	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA18612.hp1 NA18906.hp1 others(8): Show HG02717.hp2 NA18612.hp1 NA18906.hp1 NA18947.hp1 NA18975.hp2 NA18984.hp1 NA18998.hp2 NA19055.hp1 NA19064.hp1 NA19080.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0001 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0013 a0001c0001t0001g0067 a0001c0001t0001g0083 others(8): Show a0001c0001t0001g0013 a0001c0001t0001g0067 a0001c0001t0001g0083 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0007g0150	11	326	0.0337	-20	c.130 others(37): Show c.130-6279_130-6260delGCGTGCGCTGCTGTGTGCTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1016662	CGCACAGC others(13): Show CGCACAGCAGCACACGCCAGG	C C	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	326	0.0031	-20	c.130 others(37): Show c.130-6539_130-6520delCCTGGCGTGTGCTGCTGTGC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1016792	GCAGCACA others(13): Show GCAGCACACAGCAGCACACAC	G G	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02818.hp1 HG03490.hp2 others(4): Show HG01358.hp2 HG02818.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp1 HG03669.hp2 HG04228.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0005 a0001c0001 a0007c0005	a0001c0001t0005 a0001c0001t0008 a0007c0005t0008 a0001c0001t0005 a0001c0001t0008 a0007c0005t0008	a0001c0001t0005g0212 a0001c0001t0005g0227 a0001c0001t0008g0166 others(4): Show a0001c0001t0005g0212 a0001c0001t0005g0227 a0001c0001t0008g0166 a0001c0001t0008g0169 a0001c0001t0008g0170 a0001c0001t0008g0171 a0007c0005t0008g0167	7	326	0.0215	-20	c.130 others(37): Show c.130-6669_130-6650delGTGTGTGCTGCTGTGTGCTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1016797	ACACAGCA others(13): Show ACACAGCAGCACACACCAGCG	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02155.hp1 HG03927.hp2 others(12): Show HG02132.hp1 HG02155.hp1 HG03927.hp2 NA18944.hp2 NA18945.hp1 NA18962.hp1 NA18971.hp1 NA18972.hp1 NA18986.hp2 NA18999.hp1 NA19005.hp2 NA19007.hp2 NA19056.hp2 NA19079.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0021 a0001c0001t0028 a0001c0001t0004 a0001c0001t0021 a0001c0001t0028	a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 others(12): Show a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0188 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0021g0086 a0001c0001t0028g0201	15	326	0.0460	-20	c.130 others(37): Show c.130-6674_130-6655delCGCTGGTGTGTGCTGCTGTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1023624	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG02451.hp1 others(7): Show HG02055.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02970.hp1 HG02976.hp1 HG03195.hp2 HG03486.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0003 a0002c0002t0018 a0001c0001t0003 a0002c0002t0003 a0002c0002t0018	a0001c0001t0003g0249 a0001c0001t0003g0250 a0002c0002t0003g0288 others(7): Show a0001c0001t0003g0249 a0001c0001t0003g0250 a0002c0002t0003g0288 a0002c0002t0003g0315 a0002c0002t0003g0316 a0002c0002t0003g0317 a0002c0002t0003g0322 a0002c0002t0003g0323 a0002c0002t0018g0202 a0002c0002t0018g0203	10	326	0.0307	-20	c.130 others(39): Show c.130-13501_130-13482delGTGTGTGTGTGTGTGTGTGT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf57_chr7_48030543_48066297	48051817	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA18747.hp2 HG01109.hp1 NA18747.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0171 a0002c0001t0001g0245 a0001c0002t0001g0171 a0002c0001t0001g0245	2	404	0.0050	-20	c.606 others(35): Show c.606-847_606-828delTTCTTTCTTTCTTTCTTTCT	C7orf57	ENSG00000164746.14	transcript	ENST00000348904.4	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
C8B_chr1_56924207_56971015	56941494	GTAGATAG others(13): Show GTAGATAGATAGATACATAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00621.hp2 others(20): Show HG00099.hp1 HG00423.hp2 HG00621.hp2 HG00741.hp2 HG01070.hp1 HG01346.hp1 HG01517.hp1 HG01993.hp2 HG02280.hp1 HG02300.hp2 HG02559.hp1 HG02647.hp2 HG02723.hp2 HG02965.hp1 HG02970.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 NA18906.hp2 NA18952.hp2 NA19063.hp1 NA20129.hp1 NA20805.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0010 a0001c0001 a0002c0002 a0005c0010	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0005c0010t0001	a0001c0001t0001g0018 a0001c0001t0001g0038 a0001c0001t0001g0109 others(17): Show a0001c0001t0001g0018 a0001c0001t0001g0038 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0189 a0001c0001t0001g0196 a0001c0001t0001g0208 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0279 a0001c0001t0001g0296 a0001c0001t0003g0052 a0002c0002t0001g0184 a0002c0002t0001g0234 a0002c0002t0001g0304 a0005c0010t0001g0112	23	402	0.0572	-20	c.123 others(37): Show c.1235-502_1235-483delTCTATGTATCTATCTATCTA	C8B	ENSG00000021852.14	transcript	ENST00000371237.9	protein_coding	8/11			chr1	TogoVar
C8B_chr1_56924207_56971015	56941509	CATAGATA others(13): Show CATAGATAGATAGATAGATAG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01255.hp1 HG01891.hp1 others(15): Show HG01243.hp1 HG01255.hp1 HG01891.hp1 HG02055.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02809.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG06807.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0001c0001t0001 a0001c0004t0001 a0002c0002t0001	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0179 others(13): Show a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0179 a0001c0001t0001g0186 a0001c0001t0001g0193 a0001c0001t0001g0214 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0265 a0001c0001t0001g0299 a0001c0004t0001g0017 a0001c0004t0001g0160 a0001c0004t0001g0239 a0002c0002t0001g0051	18	402	0.0448	-20	c.123 others(37): Show c.1235-517_1235-498delCTATCTATCTATCTATCTAT	C8B	ENSG00000021852.14	transcript	ENST00000371237.9	protein_coding	8/11			chr1	TogoVar
C8orf34_chr8_68325955_68824023	68603521	ATATCTAT others(13): Show ATATCTATCTATCTATCTATC	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01109.hp1 HG01243.hp1 others(44): Show HG01071.hp1 HG01109.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01346.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG02109.hp2 HG02258.hp2 HG02486.hp2 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03490.hp1 HG03516.hp1 HG03540.hp2 HG06807.hp2 NA18522.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0005 others(8): Show a0001c0001 a0001c0002 a0001c0005 a0001c0014 a0002c0003 a0002c0004 a0002c0007 a0002c0013 a0003c0008 a0004c0017 a0006c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0005t0001 a0001c0014t0004 a0002c0003t0001 a0002c0004t0001 a0002c0004t0002 a0002c0007t0001 a0002c0013t0001 a0003c0008t0001 a0004c0017t0006 a0006c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(44): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0003g0090 a0001c0001t0004g0074 a0001c0001t0004g0111 a0001c0001t0005g0117 a0001c0001t0008g0089 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0069 a0001c0002t0001g0079 a0001c0002t0001g0084 a0001c0002t0001g0093 a0001c0002t0001g0096 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0002g0014 a0001c0002t0002g0085 a0001c0002t0003g0091 a0001c0002t0003g0092 a0001c0005t0001g0043 a0001c0005t0001g0044 a0001c0014t0004g0008 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0086 a0002c0004t0001g0099 a0002c0004t0001g0100 a0002c0004t0001g0104 a0002c0004t0002g0121 a0002c0007t0001g0045 a0002c0013t0001g0095 a0003c0008t0001g0123 a0004c0017t0006g0128 a0006c0009t0001g0107	47	128	0.3672	-20	c.110 others(41): Show c.1106-36821_1106-36802delATCTATCTATCTATCTATCT	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf34_chr8_68325955_68824023	68779180	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0006 a0004c0017t0006	a0004c0017t0006g0128 a0004c0017t0006g0128	1	128	0.0078	-20	c.145 others(39): Show c.1455+2762_1455+2781delACACACACACACACACACAC	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf58_chr8_22594599_22609142	22599069	CCCCTCCC others(13): Show CCCCTCCCCTCCCTCTCCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	332	0.0030	-20	c.-65 others(29): Show c.-651_-632delCCCTCCCCTCCCTCTCCTCT	C8orf58	ENSG00000241852.11	transcript	ENST00000289989.10	protein_coding		529		chr8	TogoVar
C8orf74_chr8_10667628_10705590	10671047	GGAGGCGT others(13): Show GGAGGCGTTCCTGACAGCGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18970.hp2 NA18995.hp2 others(6): Show NA18962.hp2 NA18970.hp2 NA18995.hp2 NA19002.hp1 NA19005.hp1 NA19012.hp1 NA19067.hp1 NA19075.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0261 others(5): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0002c0003t0002g0269	9	430	0.0209	-20	c.-16 others(31): Show c.-1618_-1599delGAGGCGTTCCTGACAGCGCC	C8orf74	ENSG00000171060.11	transcript	ENST00000304519.10	protein_coding		1580		chr8	TogoVar
C8orf74_chr8_10667628_10705590	10691219	TGTATGAC others(13): Show TGTATGACCTCTTAGGAGCAG	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18953.hp2 HG00609.hp1 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0167 a0001c0001t0001g0060 a0001c0001t0001g0167	2	430	0.0047	-20	c.242 others(37): Show c.242-6377_242-6358delATGACCTCTTAGGAGCAGGT	C8orf74	ENSG00000171060.11	transcript	ENST00000304519.10	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
C9orf152_chr9_110194561_110213159	110209892	AAAGAGAA others(13): Show AAAGAGAAGAGAAGAGAAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 NA19043.hp2 HG03579.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0025 a0001c0003t0003 a0001c0001t0025 a0001c0003t0003	a0001c0001t0025g0059 a0001c0003t0003g0092 a0001c0001t0025g0059 a0001c0003t0003g0092	2	466	0.0043	-20	c.-23 others(31): Show c.-2333_-2314delCTCTTCTCTTCTCTTCTCTT	C9orf152	ENSG00000188959.10	transcript	ENST00000400613.5	protein_coding		1734		chr9	TogoVar
C9orf57_chr9_72046376_72065613	72055374	CTCCTTCC others(13): Show CTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp1 NA18969.hp2 others(2): Show HG02145.hp2 HG02258.hp1 NA18969.hp2 NA18988.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0249 others(1): Show a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0249 a0001c0002t0002g0068	5	450	0.0111	-20	c.280 others(35): Show c.280+680_280+699delAGGAAGGAAGGAAGGAAGGA	C9orf57	ENSG00000204669.11	transcript	ENST00000651200.2	protein_coding	4/4			chr9	TogoVar
CA10_chr17_51625320_52163714	51692366	CCTATCTA others(13): Show CCTATCTATCTATCTATCTAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0095 a0001c0002t0001g0095	1	156	0.0064	-20	c.466 others(39): Show c.466-38650_466-38631delATAGATAGATAGATAGATAG	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	4/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51849205	GTATATAT others(13): Show GTATATATATATATACATATA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02723.hp2 HG02886.hp1 others(6): Show HG02145.hp2 HG02723.hp2 HG02886.hp1 HG02922.hp2 HG03130.hp1 HG04199.hp1 NA18962.hp1 NA19000.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0006 a0001c0001t0002g0031 a0001c0001t0002g0035 others(6): Show a0001c0001t0002g0006 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0134 a0001c0002t0001g0095 a0001c0002t0001g0104 a0001c0002t0001g0117	9	156	0.0577	-20	c.279 others(39): Show c.279+81765_279+81784delTATATGTATATATATATATA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51878829	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0112 a0001c0001t0010g0112	1	156	0.0064	-20	c.279 others(39): Show c.279+52141_279+52160delATATATATATATATATATAT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51878874	ATATATAT others(13): Show ATATATATATATATATATGGG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	156	0.0064	-20	c.279 others(39): Show c.279+52096_279+52115delCCCATATATATATATATATA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA10_chr17_51625320_52163714	52080453	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0110 a0001c0001t0003g0110	1	156	0.0064	-20	c.62- others(35): Show c.62-8080_62-8061delATTTATTTATTTATTTATTT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	1/8			chr17	TogoVar
CA10_chr17_51625320_52163714	52127905	AACTACCG others(13): Show AACTACCGTTGATTAACTGAC	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02723.hp1 HG02630.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0136 a0001c0001t0003g0064 a0001c0001t0002g0136 a0001c0001t0003g0064	2	156	0.0128	-20	c.61+ others(37): Show c.61+29801_61+29820delGTCAGTTAATCAACGGTAGT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	1/8			chr17	TogoVar
CA1_chr8_85322608_85383113	85338632	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	324	0.0031	-20	c.38- others(33): Show c.38-203_38-184delGAAAGAAAGAAAGAAAGAAA	CA1	ENSG00000133742.14	transcript	ENST00000523022.6	protein_coding	2/7			chr8	TogoVar
CA1_chr8_85322608_85383113	85344298	ATATAATT others(13): Show ATATAATTATATATTATACAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00597.hp1 others(156): Show HG00140.hp1 HG00423.hp2 HG00597.hp1 HG00609.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01975.hp1 HG01978.hp1 HG02015.hp1 HG02074.hp2 HG02080.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18955.hp1 NA18956.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18970.hp2 NA18971.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18989.hp2 NA18994.hp2 NA18998.hp1 NA19000.hp1 NA19003.hp1 NA19005.hp2 NA19006.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp2 NA19059.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19070.hp2 NA19075.hp2 NA19077.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0005 a0004c0004 a0001c0001 a0001c0005 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0005t0001 a0004c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(121): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0205 a0001c0001t0001g0220 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0002g0007 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0118 a0001c0001t0002g0146 a0001c0001t0002g0180 a0001c0001t0005g0248 a0001c0001t0006g0249 a0001c0001t0007g0073 a0001c0005t0001g0013 a0001c0005t0001g0252 a0001c0005t0001g0253 a0001c0005t0001g0254 a0004c0004t0001g0023 a0004c0004t0001g0052 a0004c0004t0001g0098 a0004c0004t0001g0149 a0004c0004t0001g0247	159	324	0.4907	-20	c.-24 others(37): Show c.-24-2659_-24-2640delCTGTATAATATATAATTATA	CA1	ENSG00000133742.14	transcript	ENST00000523022.6	protein_coding	1/7			chr8	TogoVar
CA5A_chr16_87883013_87941529	87917704	AACACACA others(13): Show AACACACACATGAACACGTGC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(48): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01978.hp2 HG02055.hp2 HG02071.hp1 HG02083.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02300.hp2 HG02622.hp2 HG02630.hp1 HG02698.hp2 HG02922.hp1 HG02976.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp2 HG03516.hp1 HG03540.hp2 HG03704.hp1 HG03927.hp2 NA18522.hp1 NA18906.hp2 NA18943.hp2 NA19043.hp1 NA19066.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0014 a0002c0005 a0003c0006 a0003c0009	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0003t0002 a0001c0004t0001 a0001c0014t0001 a0002c0005t0001 a0003c0006t0001 a0003c0009t0002	a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0045 others(48): Show a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0184 a0001c0001t0001g0197 a0001c0001t0001g0238 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0309 a0001c0001t0001g0362 a0001c0001t0001g0375 a0001c0001t0001g0380 a0001c0001t0001g0382 a0001c0001t0001g0385 a0001c0001t0001g0386 a0001c0001t0003g0065 a0001c0001t0003g0384 a0001c0002t0002g0270 a0001c0003t0002g0115 a0001c0003t0002g0383 a0001c0004t0001g0367 a0001c0014t0001g0102 a0002c0005t0001g0015 a0003c0006t0001g0009 a0003c0006t0001g0011 a0003c0009t0002g0008	51	400	0.1275	-20	c.340 others(37): Show c.340+9024_340+9043delGCACGTGTTCATGTGTGTGT	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding	2/6			chr16	TogoVar
CA6_chr1_8940868_8980092	8977700	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG02129.hp2 NA18982.hp1 others(2): Show HG00099.hp1 HG02129.hp2 NA18982.hp1 NA19063.hp1 NA19082.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0002 a0002c0001 a0003c0003 others(2): Show a0001c0002 a0002c0001 a0003c0003 a0006c0004 a0007c0007	a0001c0002t0001 a0002c0001t0005 a0003c0003t0001 others(2): Show a0001c0002t0001 a0002c0001t0005 a0003c0003t0001 a0006c0004t0001 a0007c0007t0005	a0001c0002t0001g0360 a0002c0001t0005g0237 a0003c0003t0001g0064 others(2): Show a0001c0002t0001g0360 a0002c0001t0005g0237 a0003c0003t0001g0064 a0006c0004t0001g0136 a0007c0007t0005g0147	5	452	0.0111	-20	c.29 others(31): Show c.2997_*3016delAAAGAAAGAAAGAAAGAAAG	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding		2609		chr1	TogoVar
CAAP1_chr9_26835685_26897802	26847198	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0340 a0001c0002t0001g0340	1	372	0.0027	-20	c.740 others(37): Show c.740-4571_740-4552delAAAAAAAAAAAAAAAAAAAA	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	5/5			chr9	TogoVar
CAB39L_chr13_49303650_49449064	49329544	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02965.hp2 HG03041.hp1 others(2): Show HG00140.hp2 HG02965.hp2 HG03041.hp1 NA19030.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0109 a0001c0001t0002g0318 a0001c0002t0001g0149 others(2): Show a0001c0001t0001g0109 a0001c0001t0002g0318 a0001c0002t0001g0149 a0001c0002t0001g0294 a0001c0002t0003g0014	5	324	0.0154	-20	c.834 others(37): Show c.834+2383_834+2402delATATATATATATATATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CAB39_chr2_230707842_230826075	230748829	AAAATATA others(13): Show AAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0191 a0001c0001t0003g0191	1	342	0.0029	-20	c.-43 others(39): Show c.-43-11128_-43-11109delAATATATATATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230754320	TTCTTCCT others(13): Show TTCTTCCTTCTTCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01243.hp2 HG01884.hp1 others(13): Show HG01106.hp1 HG01243.hp2 HG01884.hp1 HG02615.hp1 HG02622.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG03139.hp1 HG03209.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG06807.hp1 NA18522.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 others(9): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0026 a0001c0001t0029 a0001c0001t0040 a0001c0001t0043 a0001c0001t0045 a0001c0001t0049 a0001c0001t0058	a0001c0001t0002g0306 a0001c0001t0009g0008 a0001c0001t0010g0013 others(13): Show a0001c0001t0002g0306 a0001c0001t0009g0008 a0001c0001t0010g0013 a0001c0001t0011g0003 a0001c0001t0011g0004 a0001c0001t0017g0006 a0001c0001t0017g0007 a0001c0001t0017g0010 a0001c0001t0026g0011 a0001c0001t0026g0012 a0001c0001t0029g0002 a0001c0001t0040g0014 a0001c0001t0043g0009 a0001c0001t0045g0005 a0001c0001t0049g0239 a0001c0001t0058g0015	16	342	0.0468	-20	c.-43 others(37): Show c.-43-5633_-43-5614delCTTCTTCTTCCTTCCTCTTC	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CABIN1_chr22_24006304_24183628	24011133	ACGCGCAC others(13): Show ACGCGCACGCGCGCACACACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02717.hp1 HG01243.hp2 HG02717.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0251 a0003c0005t0001g0252 a0003c0005t0001g0251 a0003c0005t0001g0252	2	268	0.0075	-20	c.-30 others(29): Show c.-308_-289delCGCGCACGCGCGCACACACG	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		170		chr22	TogoVar
CABLES1_chr18_23130485_23265470	23174821	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA20905.hp2 HG03669.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0041 a0001c0014t0036 a0001c0001t0041 a0001c0014t0036	a0001c0001t0041g0252 a0001c0014t0036g0079 a0001c0001t0041g0252 a0001c0014t0036g0079	2	278	0.0072	-20	c.846 others(39): Show c.846-13996_846-13977delATATATATATATATATATAT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CACNA1A_chr19_13201442_13511479	13346648	ATATATAT others(13): Show ATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18747.hp2 HG00423.hp1 NA18747.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0009 a0002c0002 a0007c0009	a0002c0002t0002 a0007c0009t0034 a0002c0002t0002 a0007c0009t0034	a0002c0002t0002g0095 a0007c0009t0034g0163 a0002c0002t0002g0095 a0007c0009t0034g0163	2	218	0.0092	-20	c.979 others(39): Show c.979-10759_979-10740delAATATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13402777	TACATATA others(13): Show TACATATATATACATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02165.hp2 HG02451.hp2 others(14): Show HG02109.hp2 HG02165.hp2 HG02451.hp2 HG02486.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02896.hp2 HG02970.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03540.hp1 HG04184.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0010 a0018 a0043	a0001c0001 a0001c0004 a0001c0006 others(13): Show a0001c0001 a0001c0004 a0001c0006 a0001c0020 a0001c0034 a0001c0096 a0001c0125 a0002c0117 a0003c0073 a0003c0077 a0003c0094 a0003c0108 a0006c0029 a0010c0107 a0018c0017 a0043c0091	a0001c0001t0001 a0001c0004t0001 a0001c0006t0029 others(13): Show a0001c0001t0001 a0001c0004t0001 a0001c0006t0029 a0001c0020t0001 a0001c0034t0001 a0001c0096t0025 a0001c0125t0013 a0002c0117t0009 a0003c0073t0042 a0003c0077t0039 a0003c0094t0018 a0003c0108t0012 a0006c0029t0003 a0010c0107t0021 a0018c0017t0014 a0043c0091t0005	a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0004t0001g0078 others(14): Show a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0004t0001g0078 a0001c0006t0029g0136 a0001c0020t0001g0051 a0001c0034t0001g0072 a0001c0096t0025g0003 a0001c0125t0013g0209 a0002c0117t0009g0079 a0003c0073t0042g0026 a0003c0077t0039g0022 a0003c0094t0018g0208 a0003c0108t0012g0211 a0006c0029t0003g0169 a0010c0107t0021g0004 a0018c0017t0014g0216 a0043c0091t0005g0027	17	218	0.0780	-20	c.540 others(39): Show c.540-31018_540-30999delGTATATATGTATATATATGT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13402869	CACACATA others(13): Show CACACATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02572.hp2 HG02622.hp1 others(5): Show HG01109.hp2 HG02572.hp2 HG02622.hp1 HG02723.hp1 HG03453.hp1 NA18980.hp1 NA19079.hp1 NA21309.hp2	a0001 a0007 a0010 others(2): Show a0001 a0007 a0010 a0014 a0021	a0001c0001 a0001c0006 a0001c0106 others(4): Show a0001c0001 a0001c0006 a0001c0106 a0007c0100 a0010c0128 a0014c0111 a0021c0090	a0001c0001t0004 a0001c0006t0001 a0001c0006t0008 others(5): Show a0001c0001t0004 a0001c0006t0001 a0001c0006t0008 a0001c0106t0001 a0007c0100t0017 a0010c0128t0010 a0014c0111t0004 a0021c0090t0007	a0001c0001t0004g0155 a0001c0006t0001g0032 a0001c0006t0008g0217 others(5): Show a0001c0001t0004g0155 a0001c0006t0001g0032 a0001c0006t0008g0217 a0001c0106t0001g0121 a0007c0100t0017g0039 a0010c0128t0010g0139 a0014c0111t0004g0210 a0021c0090t0007g0162	8	218	0.0367	-20	c.540 others(39): Show c.540-31110_540-31091delATATATATATATATATGTGT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13406465	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02615.hp2 HG01516.hp2 HG02615.hp2	a0002 a0010 a0002 a0010	a0002c0030 a0010c0083 a0002c0030 a0010c0083	a0002c0030t0002 a0010c0083t0014 a0002c0030t0002 a0010c0083t0014	a0002c0030t0002g0158 a0010c0083t0014g0159 a0002c0030t0002g0158 a0010c0083t0014g0159	2	218	0.0092	-20	c.540 others(39): Show c.540-34706_540-34687delTATATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13413895	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp2 HG01081.hp1 others(8): Show HG00140.hp2 HG01070.hp2 HG01081.hp1 HG01099.hp2 HG01256.hp1 HG01516.hp2 HG01978.hp2 HG02683.hp2 HG04115.hp1 NA19000.hp2 NA20752.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0008	a0001c0004 a0002c0030 a0002c0070 others(7): Show a0001c0004 a0002c0030 a0002c0070 a0002c0086 a0002c0124 a0005c0022 a0005c0066 a0006c0060 a0008c0008 a0008c0012	a0001c0004t0032 a0002c0030t0002 a0002c0070t0007 others(8): Show a0001c0004t0032 a0002c0030t0002 a0002c0070t0007 a0002c0086t0003 a0002c0124t0006 a0005c0022t0010 a0005c0066t0001 a0006c0060t0002 a0008c0008t0002 a0008c0012t0003 a0008c0012t0006	a0001c0004t0032g0081 a0002c0030t0002g0158 a0002c0070t0007g0102 others(8): Show a0001c0004t0032g0081 a0002c0030t0002g0158 a0002c0070t0007g0102 a0002c0086t0003g0035 a0002c0124t0006g0132 a0005c0022t0010g0109 a0005c0066t0001g0034 a0006c0060t0002g0016 a0008c0008t0002g0033 a0008c0012t0003g0091 a0008c0012t0006g0120	11	218	0.0505	-20	c.539 others(39): Show c.539+38961_539+38980delCTTTCTTTCTTTCTTTCTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13490692	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01123.hp2 HG01257.hp2 others(10): Show HG00735.hp2 HG01123.hp2 HG01257.hp2 HG01516.hp2 HG02129.hp2 HG02559.hp2 HG02622.hp1 HG02896.hp1 HG03130.hp1 NA18968.hp1 NA18980.hp2 NA19030.hp1 NA20129.hp1	a0001 a0002 a0005 others(6): Show a0001 a0002 a0005 a0006 a0007 a0010 a0016 a0021 a0035	a0001c0004 a0001c0005 a0002c0002 others(10): Show a0001c0004 a0001c0005 a0002c0002 a0002c0030 a0002c0085 a0002c0104 a0005c0024 a0006c0011 a0007c0009 a0010c0128 a0016c0028 a0021c0092 a0035c0057	a0001c0004t0011 a0001c0005t0008 a0002c0002t0015 others(10): Show a0001c0004t0011 a0001c0005t0008 a0002c0002t0015 a0002c0030t0002 a0002c0085t0005 a0002c0104t0040 a0005c0024t0008 a0006c0011t0003 a0007c0009t0003 a0010c0128t0010 a0016c0028t0007 a0021c0092t0016 a0035c0057t0020	a0001c0004t0011g0157 a0001c0005t0008g0204 a0002c0002t0015g0160 others(10): Show a0001c0004t0011g0157 a0001c0005t0008g0204 a0002c0002t0015g0160 a0002c0030t0002g0158 a0002c0085t0005g0085 a0002c0104t0040g0156 a0005c0024t0008g0214 a0006c0011t0003g0070 a0007c0009t0003g0031 a0010c0128t0010g0139 a0016c0028t0007g0084 a0021c0092t0016g0203 a0035c0057t0020g0002	13	218	0.0596	-20	c.293 others(39): Show c.293+15220_293+15239delTTTCTTTCTTTCTTTCTTTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)