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.

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
CNPY1_chr7_155496129_155551559	155534323	ACACACAC others(19): Show ACACACACGTGCACAGAGGCACACATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(112): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01978.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03225.hp2 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18963.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18981.hp2 NA18982.hp2 NA18985.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18993.hp1 NA18995.hp1 NA18997.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp1 NA19056.hp1 NA19065.hp1 NA19067.hp1 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19085.hp1 NA19087.hp2 NA19090.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(27): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0021 a0001c0001t0025 a0001c0001t0028 a0001c0001t0031 a0001c0001t0040 a0001c0002t0003 a0001c0002t0019 a0001c0002t0031 a0001c0002t0049 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0007 a0001c0003t0016 a0001c0003t0024 a0001c0003t0037 a0001c0003t0038	a0001c0001t0001g0077 a0001c0001t0001g0094 a0001c0001t0001g0102 others(110): Show a0001c0001t0001g0077 a0001c0001t0001g0094 a0001c0001t0001g0102 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0222 a0001c0001t0001g0254 a0001c0001t0003g0397 a0001c0001t0003g0398 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0207 a0001c0001t0004g0209 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0225 a0001c0001t0004g0229 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0256 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0276 a0001c0001t0006g0045 a0001c0001t0006g0048 a0001c0001t0006g0057 a0001c0001t0007g0099 a0001c0001t0007g0101 a0001c0001t0007g0186 a0001c0001t0007g0191 a0001c0001t0007g0192 a0001c0001t0007g0210 a0001c0001t0007g0224 a0001c0001t0009g0001 a0001c0001t0009g0181 a0001c0001t0009g0208 a0001c0001t0009g0216 a0001c0001t0009g0218 a0001c0001t0009g0227 a0001c0001t0009g0237 a0001c0001t0009g0238 a0001c0001t0009g0239 a0001c0001t0009g0243 a0001c0001t0010g0248 a0001c0001t0011g0037 a0001c0001t0011g0038 a0001c0001t0011g0052 a0001c0001t0011g0053 a0001c0001t0012g0386 a0001c0001t0012g0394 a0001c0001t0013g0255 a0001c0001t0014g0028 a0001c0001t0016g0091 a0001c0001t0018g0044 a0001c0001t0018g0055 a0001c0001t0021g0056 a0001c0001t0025g0217 a0001c0001t0028g0391 a0001c0001t0028g0392 a0001c0001t0028g0393 a0001c0001t0031g0027 a0001c0001t0040g0051 a0001c0002t0003g0371 a0001c0002t0003g0372 a0001c0002t0003g0373 a0001c0002t0019g0292 a0001c0002t0031g0011 a0001c0002t0049g0406 a0001c0003t0001g0171 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0193 a0001c0003t0001g0196 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0219 a0001c0003t0001g0220 a0001c0003t0001g0221 a0001c0003t0001g0223 a0001c0003t0001g0226 a0001c0003t0001g0240 a0001c0003t0001g0242 a0001c0003t0001g0257 a0001c0003t0001g0282 a0001c0003t0001g0283 a0001c0003t0002g0284 a0001c0003t0006g0039 a0001c0003t0006g0040 a0001c0003t0006g0041 a0001c0003t0006g0042 a0001c0003t0006g0046 a0001c0003t0006g0047 a0001c0003t0006g0049 a0001c0003t0006g0050 a0001c0003t0006g0054 a0001c0003t0006g0058 a0001c0003t0006g0064 a0001c0003t0006g0065 a0001c0003t0007g0190 a0001c0003t0016g0241 a0001c0003t0024g0043 a0001c0003t0037g0036 a0001c0003t0038g0035	115	426	0.2700	-26	c.99+ others(43): Show c.99+11482_99+11507delCATGTGTGCCTCTGTGCACGTGTGTG	CNPY1	ENSG00000146910.14	transcript	ENST00000636446.2	protein_coding	2/4			chr7	TogoVar
CNTLN_chr9_17130040_17508923	17295987	AGAGAGAG others(19): Show AGAGAGAGAGAGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00738.hp2 others(28): Show HG00140.hp1 HG00423.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01168.hp1 HG01978.hp2 HG02486.hp1 HG02602.hp2 HG02622.hp2 HG02809.hp1 HG02965.hp2 HG03239.hp1 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03704.hp1 HG03834.hp2 HG04204.hp2 HG06807.hp1 NA18974.hp1 NA18984.hp1 NA19003.hp2 NA19057.hp1 NA19065.hp2 NA19068.hp1 NA19079.hp2 NA19087.hp2 NA20129.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0007 a0014 a0015	a0001c0014 a0002c0006 a0002c0008 others(7): Show a0001c0014 a0002c0006 a0002c0008 a0002c0013 a0005c0005 a0005c0036 a0005c0037 a0007c0011 a0014c0035 a0015c0018	a0001c0014t0001 a0002c0006t0002 a0002c0008t0001 others(11): Show a0001c0014t0001 a0002c0006t0002 a0002c0008t0001 a0002c0008t0009 a0002c0013t0002 a0005c0005t0001 a0005c0005t0002 a0005c0005t0010 a0005c0036t0001 a0005c0037t0001 a0007c0011t0002 a0007c0011t0004 a0014c0035t0001 a0015c0018t0001	a0001c0014t0001g0038 a0002c0006t0002g0105 a0002c0008t0001g0026 others(28): Show a0001c0014t0001g0038 a0002c0006t0002g0105 a0002c0008t0001g0026 a0002c0008t0001g0027 a0002c0008t0001g0035 a0002c0008t0001g0037 a0002c0008t0001g0039 a0002c0008t0001g0040 a0002c0008t0009g0034 a0002c0013t0002g0209 a0002c0013t0002g0210 a0005c0005t0001g0075 a0005c0005t0001g0089 a0005c0005t0001g0090 a0005c0005t0001g0091 a0005c0005t0001g0092 a0005c0005t0001g0094 a0005c0005t0001g0095 a0005c0005t0001g0096 a0005c0005t0001g0097 a0005c0005t0001g0101 a0005c0005t0002g0103 a0005c0005t0010g0098 a0005c0005t0010g0099 a0005c0036t0001g0100 a0005c0037t0001g0102 a0007c0011t0002g0109 a0007c0011t0004g0110 a0014c0035t0001g0104 a0015c0018t0001g0042 a0015c0018t0001g0043	31	218	0.1422	-26	c.984 others(43): Show c.984-2201_984-2176delAGAGAGAGAGTGTGTGTGTGTGTGTG	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTN1_chr12_40687439_41077415	40707227	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	230	0.0044	-26	c.-77 others(45): Show c.-77+14649_-77+14674delTTTTTTTTTTTTTTTTTTTTTTTTTT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN1_chr12_40687439_41077415	40830791	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03041.hp1 HG03098.hp2 others(1): Show HG01884.hp1 HG03041.hp1 HG03098.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0004t0003 a0001c0004t0007 a0001c0001t0004 a0001c0004t0003 a0001c0004t0007	a0001c0001t0004g0170 a0001c0004t0003g0168 a0001c0004t0003g0171 others(1): Show a0001c0001t0004g0170 a0001c0004t0003g0168 a0001c0004t0003g0171 a0001c0004t0007g0057	4	230	0.0174	-26	c.-76 others(45): Show c.-76-77547_-76-77522delTATATATATATATATATATATATATA	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN1_chr12_40687439_41077415	41056918	AATATTTA others(19): Show AATATTTAGATATTTATAAATATTTAT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0021 a0001c0012t0021	a0001c0012t0021g0204 a0001c0012t0021g0204	1	230	0.0044	-26	c.298 others(47): Show c.2981-13039_2981-13014delTATTTAGATATTTATAAATATTTA TA	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN3_chr3_74257568_74619659	74285790	GATATATA others(19): Show GATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp1 HG03041.hp2 others(4): Show HG02257.hp2 HG02622.hp1 HG03041.hp2 HG03098.hp1 HG03225.hp1 HG03471.hp1 NA18906.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0022 a0001c0001 a0001c0002 a0005c0022	a0001c0001t0002 a0001c0001t0009 a0001c0001t0015 others(4): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0015 a0001c0002t0014 a0001c0002t0019 a0001c0002t0025 a0005c0022t0002	a0001c0001t0002g0082 a0001c0001t0009g0086 a0001c0001t0015g0014 others(4): Show a0001c0001t0002g0082 a0001c0001t0009g0086 a0001c0001t0015g0014 a0001c0002t0014g0076 a0001c0002t0019g0002 a0001c0002t0025g0087 a0005c0022t0002g0053	7	174	0.0402	-26	c.251 others(43): Show c.2518-325_2518-300delATATATATATATATATATATATATAT	CNTN3	ENSG00000113805.9	transcript	ENST00000263665.7	protein_coding	19/22			chr3	TogoVar
CNTN3_chr3_74257568_74619659	74344396	GGTTTTTT others(19): Show GGTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp1 HG02897.hp2 others(3): Show HG02258.hp2 HG02280.hp1 HG02897.hp2 HG03139.hp1 HG03471.hp2 HG06807.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0019 others(2): Show a0001c0001 a0001c0002 a0001c0019 a0003c0003 a0003c0007	a0001c0001t0004 a0001c0001t0027 a0001c0002t0003 others(3): Show a0001c0001t0004 a0001c0001t0027 a0001c0002t0003 a0001c0019t0016 a0003c0003t0002 a0003c0007t0004	a0001c0001t0004g0138 a0001c0001t0027g0094 a0001c0002t0003g0016 others(3): Show a0001c0001t0004g0138 a0001c0001t0027g0094 a0001c0002t0003g0016 a0001c0019t0016g0135 a0003c0003t0002g0081 a0003c0007t0004g0131	6	174	0.0345	-26	c.136 others(45): Show c.1365-7764_1365-7739delAAAAAAAAAAAAAAAAAAAAAAAAAC	CNTN3	ENSG00000113805.9	transcript	ENST00000263665.7	protein_coding	11/22			chr3	TogoVar
CNTN4_chr3_2093866_3062959	2549089	GTTTCTAA others(19): Show GTTTCTAAATATACAATCATGTCGGGT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01261.hp1 HG02602.hp2 others(1): Show HG00738.hp2 HG01261.hp1 HG02602.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0005 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0005 a0001c0002t0001 a0001c0003t0001 a0001c0007t0004	a0001c0001t0005g0054 a0001c0002t0001g0038 a0001c0003t0001g0037 others(1): Show a0001c0001t0005g0054 a0001c0002t0001g0038 a0001c0003t0001g0037 a0001c0007t0004g0066	4	116	0.0345	-26	c.-88 others(45): Show c.-88-22304_-88-22279delGGGTTTTCTAAATATACAATCATGTC	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN5_chr11_99015949_100363885	99284600	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA18939.hp2 NA18957.hp2 others(1): Show HG01099.hp1 NA18939.hp2 NA18957.hp2 NA19000.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0007	a0001c0001 a0003c0003 a0004c0004 others(1): Show a0001c0001 a0003c0003 a0004c0004 a0007c0007	a0001c0001t0004 a0003c0003t0002 a0004c0004t0002 others(1): Show a0001c0001t0004 a0003c0003t0002 a0004c0004t0002 a0007c0007t0023	a0001c0001t0004g0010 a0003c0003t0002g0002 a0004c0004t0002g0001 others(1): Show a0001c0001t0004g0010 a0003c0003t0002g0002 a0004c0004t0002g0001 a0007c0007t0023g0046	4	66	0.0606	-26	c.-20 others(47): Show c.-209-40710_-209-40685delTGTGTGTGTGTGTGTGTGTGTGTG TG	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99408428	AAAAGAAA others(19): Show AAAAGAAAGAAAGAAAGAAAGAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02735.hp1 HG03471.hp1 HG01099.hp1 HG02735.hp1 HG03471.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0008 a0001c0001 a0008c0008	a0001c0001t0004 a0001c0001t0006 a0008c0008t0007 a0001c0001t0004 a0001c0001t0006 a0008c0008t0007	a0001c0001t0004g0010 a0001c0001t0006g0032 a0008c0008t0007g0038 a0001c0001t0004g0010 a0001c0001t0006g0032 a0008c0008t0007g0038	3	66	0.0455	-26	c.-71 others(45): Show c.-71+82966_-71+82991delGAAAGAAAGAAAGAAAGAAAGAAAGA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99812995	CTGGTAAA others(19): Show CTGGTAAAATCTTACCAATTTACCAAT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00738.hp1 HG00738.hp2 others(7): Show HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01099.hp2 HG01496.hp1 HG02886.hp2 HG02895.hp2 HG03471.hp1 NA18522.hp1 NA19070.hp1	a0002 a0004 a0008 a0002 a0004 a0008	a0002c0002 a0004c0004 a0008c0008 a0002c0002 a0004c0004 a0008c0008	a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 others(6): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0021 a0002c0002t0022 a0004c0004t0002 a0004c0004t0013 a0004c0004t0020 a0008c0008t0007	a0002c0002t0001g0003 a0002c0002t0003g0036 a0002c0002t0003g0037 others(7): Show a0002c0002t0001g0003 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0004g0007 a0002c0002t0021g0055 a0002c0002t0022g0013 a0004c0004t0002g0041 a0004c0004t0013g0050 a0004c0004t0020g0024 a0008c0008t0007g0038	10	66	0.1515	-26	c.56- others(41): Show c.56-6538_56-6513delTTACCAATTTACCAATTGGTAAAATC	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99889291	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02132.hp1 NA18939.hp2 others(1): Show HG01123.hp2 HG02132.hp1 NA18939.hp2 NA19070.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0003 a0007c0007 a0001c0001 a0003c0003 a0007c0007	a0001c0001t0014 a0001c0001t0016 a0003c0003t0002 others(1): Show a0001c0001t0014 a0001c0001t0016 a0003c0003t0002 a0007c0007t0023	a0001c0001t0014g0016 a0001c0001t0016g0049 a0003c0003t0002g0012 others(1): Show a0001c0001t0014g0016 a0001c0001t0016g0049 a0003c0003t0002g0012 a0007c0007t0023g0046	4	66	0.0606	-26	c.578 others(45): Show c.578-26722_578-26697delGTGTGTGTGTGTGTGTGTGTGTGTGT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN6_chr3_1088024_1409217	1098781	CACACACA others(19): Show CACACACACATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0203 a0001c0005t0001g0203	1	232	0.0043	-26	c.-83 others(43): Show c.-83+5663_-83+5688delCACACACATATATATATATATATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1300579	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02451.hp1 others(3): Show HG02145.hp1 HG02145.hp2 HG02451.hp1 HG02965.hp2 HG03453.hp2 HG06807.hp2	a0001 a0004 a0001 a0004	a0001c0005 a0001c0006 a0004c0016 a0001c0005 a0001c0006 a0004c0016	a0001c0005t0001 a0001c0005t0004 a0001c0006t0001 others(2): Show a0001c0005t0001 a0001c0005t0004 a0001c0006t0001 a0001c0006t0004 a0004c0016t0001	a0001c0005t0001g0193 a0001c0005t0004g0194 a0001c0006t0001g0184 others(3): Show a0001c0005t0001g0193 a0001c0005t0004g0194 a0001c0006t0001g0184 a0001c0006t0004g0119 a0004c0016t0001g0002 a0004c0016t0001g0003	6	232	0.0259	-26	c.761 others(43): Show c.761+2592_761+2617delAAGAAAGAAAGAAAGAAAGAAAGAGA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	146151682	GTATATAT others(19): Show GTATATATATATATATGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0005 a0001c0005t0008g0005	1	40	0.0250	-26	c.97+ others(43): Show c.97+34715_97+34740delATATATATATGTATATATATATATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146395805	ATAGATAG others(19): Show ATAGATAGATAGATAGATAGAGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0019 a0001c0009t0019	a0001c0009t0019g0027 a0001c0009t0019g0027	1	40	0.0250	-26	c.97+ others(45): Show c.97+278833_97+278858delTAGATAGATAGATAGATAGAGGAGAG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23			chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146457481	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03225.hp2 NA18522.hp1 HG02717.hp1 HG03225.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0013 a0001c0018 a0002c0017 a0001c0013 a0001c0018 a0002c0017	a0001c0013t0003 a0001c0018t0002 a0002c0017t0015 a0001c0013t0003 a0001c0018t0002 a0002c0017t0015	a0001c0013t0003g0039 a0001c0018t0002g0012 a0002c0017t0015g0037 a0001c0013t0003g0039 a0001c0018t0002g0012 a0002c0017t0015g0037	3	40	0.0750	-26	c.98- others(45): Show c.98-316760_98-316735delTATATATATATATATATATATATATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146483282	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03225.hp2 HG02717.hp1 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0018 a0002c0017 a0001c0018 a0002c0017	a0001c0018t0002 a0002c0017t0015 a0001c0018t0002 a0002c0017t0015	a0001c0018t0002g0012 a0002c0017t0015g0037 a0001c0018t0002g0012 a0002c0017t0015g0037	2	40	0.0500	-26	c.98- others(45): Show c.98-290967_98-290942delTATATATATATATATATATATATATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146759681	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02630.hp1 HG02717.hp1 others(11): Show HG02451.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03225.hp1 NA18522.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0013 a0001c0015 a0002c0017	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0023 a0001c0004t0003 a0001c0005t0008 a0001c0008t0001 a0001c0009t0019 a0001c0010t0002 a0001c0012t0004 a0001c0013t0003 a0001c0015t0001 a0002c0017t0015	a0001c0001t0001g0003 a0001c0001t0002g0006 a0001c0002t0001g0008 others(11): Show a0001c0001t0001g0003 a0001c0001t0002g0006 a0001c0002t0001g0008 a0001c0003t0023g0030 a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0005t0008g0005 a0001c0008t0001g0025 a0001c0009t0019g0027 a0001c0010t0002g0014 a0001c0012t0004g0026 a0001c0013t0003g0039 a0001c0015t0001g0011 a0002c0017t0015g0037	14	40	0.3500	-26	c.98- others(43): Show c.98-14585_98-14560delAAAAAAAAAAAAAAAAAAAAAAAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146947553	GTGTGTAT others(19): Show GTGTGTATATATATATATATATACATA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0017 a0001c0003t0020g0017	1	40	0.0250	-26	c.403 others(45): Show c.403-96352_403-96327delGTGTATATATATATATATATACATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147104873	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02922.hp2 HG03139.hp2 others(2): Show HG01891.hp2 HG02922.hp2 HG03139.hp2 HG03239.hp1 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0001c0011 others(1): Show a0001c0001 a0001c0004 a0001c0011 a0003c0007	a0001c0001t0001 a0001c0001t0006 a0001c0004t0005 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0004t0005 a0001c0011t0016 a0003c0007t0017	a0001c0001t0001g0038 a0001c0001t0006g0009 a0001c0004t0005g0004 others(2): Show a0001c0001t0001g0038 a0001c0001t0006g0009 a0001c0004t0005g0004 a0001c0011t0016g0019 a0003c0007t0017g0031	5	40	0.1250	-26	c.551 others(43): Show c.551-3255_551-3230delATATATATATATATATATATATATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147301592	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0028 a0001c0006t0009g0028	1	40	0.0250	-26	c.149 others(45): Show c.1498+1330_1498+1355delGTGTGTGTGTGTGTGTGTGTGTGTGT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147775312	TATATATA others(19): Show TATATATATATTTATATATATTTATAA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0017 a0001c0003t0020g0017	1	40	0.0250	-26	c.209 others(49): Show c.2099-128216_2099-128191delTTATATATATTTATAAATATAT ATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147784494	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03139.hp2 HG02451.hp1 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0001 a0001c0011t0016 a0001c0002t0001 a0001c0011t0016	a0001c0002t0001g0007 a0001c0011t0016g0019 a0001c0002t0001g0007 a0001c0011t0016g0019	2	40	0.0500	-26	c.209 others(49): Show c.2099-119040_2099-119015delATATATATATATATATATATAT ATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147902788	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03540.hp2 NA18522.hp1 HG02922.hp1 HG03540.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0013 a0001c0001 a0001c0003 a0001c0013	a0001c0001t0012 a0001c0003t0004 a0001c0013t0003 a0001c0001t0012 a0001c0003t0004 a0001c0013t0003	a0001c0001t0012g0034 a0001c0003t0004g0029 a0001c0013t0003g0039 a0001c0001t0012g0034 a0001c0003t0004g0029 a0001c0013t0003g0039	3	40	0.0750	-26	c.209 others(43): Show c.2099-751_2099-726delATGTGTGTGTGTGTGTGTGTGTGTGT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP3_chr9_39059710_39293167	39217358	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	4	0.2500	-26	c.390 others(45): Show c.390+21609_390+21634delTATATATATATATATATATATATATA	CNTNAP3	ENSG00000106714.18	transcript	ENST00000297668.11	protein_coding	3/23			chr9	TogoVar
CNTNAP4_chr16_76272401_76565757	76376907	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0173 a0002c0005t0004g0173	1	274	0.0037	-26	c.390 others(45): Show c.390+21418_390+21443delGTGTGTGTGTGTGTGTGTGTGTGTGT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76397938	TTATATAC others(19): Show TTATATACATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00741.hp1 others(20): Show HG00438.hp1 HG00597.hp1 HG00741.hp1 HG02132.hp1 HG02615.hp2 HG03942.hp1 HG04115.hp1 NA18612.hp1 NA18944.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19012.hp1 NA19056.hp1 NA19060.hp2 NA19063.hp2 NA19066.hp1 NA19070.hp1 NA19077.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0012 a0017 a0019	a0001c0001 a0001c0004 a0002c0002 others(5): Show a0001c0001 a0001c0004 a0002c0002 a0004c0010 a0005c0008 a0012c0020 a0017c0036 a0019c0032	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0004t0001 a0001c0004t0003 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0004c0010t0002 a0005c0008t0003 a0012c0020t0009 a0017c0036t0004 a0019c0032t0001	a0001c0001t0001g0062 a0001c0001t0001g0076 a0001c0001t0001g0119 others(20): Show a0001c0001t0001g0062 a0001c0001t0001g0076 a0001c0001t0001g0119 a0001c0001t0001g0151 a0001c0001t0003g0180 a0001c0001t0012g0179 a0001c0004t0001g0030 a0001c0004t0001g0074 a0001c0004t0001g0082 a0001c0004t0001g0107 a0001c0004t0001g0137 a0001c0004t0001g0165 a0001c0004t0003g0084 a0002c0002t0002g0115 a0002c0002t0004g0109 a0002c0002t0004g0153 a0002c0002t0005g0178 a0004c0010t0002g0085 a0004c0010t0002g0086 a0005c0008t0003g0152 a0012c0020t0009g0103 a0017c0036t0004g0248 a0019c0032t0001g0013	23	274	0.0839	-26	c.391 others(45): Show c.391-29507_391-29482delCATATATATATATATATATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76522686	CCTTTCTT others(19): Show CCTTTCTTTTCTTTTCTTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0070 a0002c0005t0002g0070	1	274	0.0037	-26	c.275 others(43): Show c.2755+430_2755+455delCTTTCTTTTCTTTTCTTTTCTTTTCT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	17/23			chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124431547	TATTATAT others(19): Show TATTATATATAATTTCTTTATATAAAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG02970.hp2 others(1): Show HG02257.hp2 HG02451.hp2 HG02970.hp2 HG03130.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0003 a0001c0001 a0001c0002 a0006c0003	a0001c0001t0005 a0001c0001t0013 a0001c0002t0006 others(1): Show a0001c0001t0005 a0001c0001t0013 a0001c0002t0006 a0006c0003t0008	a0001c0001t0005g0040 a0001c0001t0013g0041 a0001c0002t0006g0028 others(1): Show a0001c0001t0005g0040 a0001c0001t0013g0041 a0001c0002t0006g0028 a0006c0003t0008g0035	4	64	0.0625	-26	c.530 others(43): Show c.530-2833_530-2808delCATTATATATAATTTCTTTATATAAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124702346	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02451.hp2 HG02886.hp1 others(4): Show HG01069.hp2 HG02451.hp2 HG02886.hp1 HG03139.hp2 HG03453.hp1 HG03704.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 a0001c0002t0003 a0001c0002t0006	a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0003g0006 others(4): Show a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0003g0006 a0001c0001t0009g0061 a0001c0001t0015g0036 a0001c0002t0003g0004 a0001c0002t0006g0028	7	64	0.1094	-26	c.207 others(47): Show c.2078-44858_2078-44833delTTTTTTTTTTTTTTTTTTTTTTTT TT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805315	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTATA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA18946.hp2 NA18963.hp2 others(2): Show HG00735.hp2 NA18946.hp2 NA18963.hp2 NA18970.hp2 NA19079.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0006 a0005c0029 a0001c0002 a0005c0006 a0005c0029	a0001c0002t0001 a0005c0006t0001 a0005c0029t0016 a0001c0002t0001 a0005c0006t0001 a0005c0029t0016	a0001c0002t0001g0202 a0005c0006t0001g0002 a0005c0006t0001g0204 others(1): Show a0001c0002t0001g0202 a0005c0006t0001g0002 a0005c0006t0001g0204 a0005c0029t0016g0203	5	212	0.0236	-26	c.41+ others(43): Show c.41+35815_41+35840delTATAGAGAGAGAGAGAGAGAGAGAGA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805317	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTATATA	C C	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0015 a0015	a0015c0028 a0015c0028	a0015c0028t0016 a0015c0028t0016	a0015c0028t0016g0205 a0015c0028t0016g0205	1	212	0.0047	-26	c.41+ others(43): Show c.41+35813_41+35838delTATATAGAGAGAGAGAGAGAGAGAGA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164818272	GTATGTAT others(19): Show GTATGTATACATATATGTATGTATACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01361.hp2 HG01884.hp1 HG00099.hp2 HG01361.hp2 HG01884.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0003 a0001c0001t0001 a0002c0003t0003	a0001c0001t0001g0080 a0002c0003t0003g0078 a0002c0003t0003g0079 a0001c0001t0001g0080 a0002c0003t0003g0078 a0002c0003t0003g0079	3	212	0.0142	-26	c.41+ others(43): Show c.41+22858_41+22883delTGTATACATACATATATGTATACATA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164822726	ATTATATT others(19): Show ATTATATTATATTATTATTATTATTAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0187 a0001c0002t0011g0187	1	212	0.0047	-26	c.41+ others(43): Show c.41+18404_41+18429delATAATAATAATAATAATATAATATAA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBL_chr7_51011212_51321809	51108932	ACACACAC others(19): Show ACACACACACACACACACACACACACC	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0016 a0001c0004t0007g0016	1	230	0.0044	-26	c.958 others(45): Show c.958-23654_958-23629delGGTGTGTGTGTGTGTGTGTGTGTGTG	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	6/12			chr7	TogoVar
COG1_chr17_73188055_73213507	73192830	CCGCGCCC others(19): Show CCGCGCCCGCGCCCGCCCCCGCCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02896.hp1 HG03471.hp1 others(8): Show HG02109.hp1 HG02896.hp1 HG03471.hp1 HG03942.hp2 NA18943.hp2 NA18948.hp2 NA18968.hp1 NA18990.hp2 NA18991.hp1 NA19091.hp2 NA20129.hp1	a0002 a0002	a0002c0001 a0002c0006 a0002c0001 a0002c0006	a0002c0001t0001 a0002c0006t0001 a0002c0001t0001 a0002c0006t0001	a0002c0001t0001g0004 a0002c0001t0001g0006 a0002c0001t0001g0032 others(5): Show a0002c0001t0001g0004 a0002c0001t0001g0006 a0002c0001t0001g0032 a0002c0001t0001g0049 a0002c0001t0001g0119 a0002c0001t0001g0120 a0002c0001t0001g0123 a0002c0006t0001g0031	11	428	0.0257	-26	c.-23 others(35): Show c.-239_-214delCGCGCCCGCGCCCGCCCCCGCCCCCT	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding		224		chr17	TogoVar
COG3_chr13_45459939_45541701	45513348	TATATAAT others(19): Show TATATAATATATACATATAAATTATAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG00642.hp1 others(8): Show HG00280.hp1 HG00597.hp1 HG00642.hp1 HG01257.hp1 HG02015.hp2 HG02818.hp1 HG03669.hp1 HG04228.hp2 NA18964.hp1 NA18969.hp2 NA18971.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0010 a0002c0004t0001 a0002c0004t0010	a0002c0004t0001g0002 a0002c0004t0001g0011 a0002c0004t0001g0012 others(6): Show a0002c0004t0001g0002 a0002c0004t0001g0011 a0002c0004t0001g0012 a0002c0004t0001g0013 a0002c0004t0001g0018 a0002c0004t0001g0028 a0002c0004t0001g0029 a0002c0004t0001g0030 a0002c0004t0010g0025	11	342	0.0322	-26	c.180 others(45): Show c.1809+1546_1809+1571delCATATAATATATACATATAAATTATA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL11A1_chr1_102871473_103113522	103027396	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02257.hp2 others(15): Show HG01109.hp1 HG01884.hp2 HG02257.hp2 HG02451.hp2 HG02572.hp1 HG02622.hp2 HG02717.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG03041.hp2 HG03098.hp2 HG03453.hp2 HG03471.hp1 HG03540.hp2 NA18522.hp2 NA18906.hp1 NA19030.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0010	a0001c0008 a0001c0009 a0003c0026 others(3): Show a0001c0008 a0001c0009 a0003c0026 a0004c0012 a0005c0010 a0010c0028	a0001c0008t0006 a0001c0009t0001 a0001c0009t0007 others(4): Show a0001c0008t0006 a0001c0009t0001 a0001c0009t0007 a0003c0026t0002 a0004c0012t0003 a0005c0010t0001 a0010c0028t0006	a0001c0008t0006g0002 a0001c0008t0006g0003 a0001c0008t0006g0004 others(15): Show a0001c0008t0006g0002 a0001c0008t0006g0003 a0001c0008t0006g0004 a0001c0008t0006g0005 a0001c0008t0006g0006 a0001c0009t0001g0008 a0001c0009t0007g0055 a0001c0009t0007g0056 a0001c0009t0007g0057 a0003c0026t0002g0049 a0004c0012t0003g0010 a0004c0012t0003g0011 a0004c0012t0003g0012 a0005c0010t0001g0028 a0005c0010t0001g0029 a0005c0010t0001g0052 a0005c0010t0001g0053 a0010c0028t0006g0001	18	184	0.0978	-26	c.781 others(43): Show c.781-1090_781-1065delATATATATATATATATATATATATAT	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	5/66			chr1	TogoVar
COL14A1_chr8_120120102_120378573	120166875	AGTGTGTG others(19): Show AGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0181 a0002c0002t0001g0181	1	218	0.0046	-26	c.350 others(43): Show c.350-1264_350-1239delTGTGTGTGTGTGTGTGTGTGTGTGTG	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL19A1_chr6_69861556_70217468	69921722	ATATATTC others(19): Show ATATATTCGTATGTAGATTCGTATATG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02109.hp2 HG02622.hp1 others(7): Show HG00408.hp2 HG02109.hp2 HG02622.hp1 HG02717.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03540.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0005 a0002c0003 others(3): Show a0001c0001 a0001c0005 a0002c0003 a0002c0004 a0002c0009 a0008c0019	a0001c0001t0006 a0001c0005t0007 a0002c0003t0018 others(5): Show a0001c0001t0006 a0001c0005t0007 a0002c0003t0018 a0002c0004t0001 a0002c0004t0006 a0002c0004t0019 a0002c0009t0004 a0008c0019t0001	a0001c0001t0006g0107 a0001c0005t0007g0182 a0002c0003t0018g0138 others(7): Show a0001c0001t0006g0107 a0001c0005t0007g0182 a0002c0003t0018g0138 a0002c0004t0001g0013 a0002c0004t0006g0108 a0002c0004t0006g0109 a0002c0004t0019g0011 a0002c0009t0004g0067 a0002c0009t0004g0129 a0008c0019t0001g0106	10	182	0.0550	-26	c.267 others(43): Show c.267-6109_267-6084delGTATATTCGTATGTAGATTCGTATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL21A1_chr6_56051590_56252580	56130165	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG01192.hp1 others(10): Show HG00099.hp1 HG00735.hp2 HG01192.hp1 HG01257.hp2 HG01496.hp2 HG01943.hp2 HG03942.hp2 NA18939.hp2 NA18956.hp2 NA18971.hp2 NA18981.hp2 NA19005.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0003c0006 a0001c0001 a0003c0005 a0003c0006	a0001c0001t0014 a0003c0005t0007 a0003c0005t0014 others(1): Show a0001c0001t0014 a0003c0005t0007 a0003c0005t0014 a0003c0006t0007	a0001c0001t0014g0087 a0003c0005t0007g0119 a0003c0005t0007g0122 others(10): Show a0001c0001t0014g0087 a0003c0005t0007g0119 a0003c0005t0007g0122 a0003c0005t0007g0200 a0003c0005t0007g0202 a0003c0005t0007g0203 a0003c0005t0007g0251 a0003c0005t0014g0035 a0003c0006t0007g0199 a0003c0006t0007g0201 a0003c0006t0007g0204 a0003c0006t0007g0205 a0003c0006t0007g0206	13	264	0.0492	-26	c.154 others(45): Show c.1543-4042_1543-4017delTATATATATATATATATATATATATA	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	12/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56130186	TATATATA others(19): Show TATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18979.hp1 NA19074.hp1 HG06807.hp2 NA18979.hp1 NA19074.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0021 a0001c0001 a0011c0021	a0001c0001t0001 a0011c0021t0020 a0001c0001t0001 a0011c0021t0020	a0001c0001t0001g0163 a0001c0001t0001g0216 a0011c0021t0020g0095 a0001c0001t0001g0163 a0001c0001t0001g0216 a0011c0021t0020g0095	3	264	0.0114	-26	c.154 others(45): Show c.1543-4063_1543-4038delTTATATATATATATATATATATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	12/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56206693	AATAAATA others(19): Show AATAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01167.hp2 HG01169.hp2 others(3): Show HG00741.hp1 HG01167.hp2 HG01169.hp2 HG02965.hp1 HG03471.hp1 NA18522.hp1	a0001 a0013 a0001 a0013	a0001c0007 a0001c0024 a0013c0023 a0001c0007 a0001c0024 a0013c0023	a0001c0007t0002 a0001c0007t0004 a0001c0024t0022 others(1): Show a0001c0007t0002 a0001c0007t0004 a0001c0024t0022 a0013c0023t0010	a0001c0007t0002g0261 a0001c0007t0002g0262 a0001c0007t0004g0065 others(3): Show a0001c0007t0002g0261 a0001c0007t0002g0262 a0001c0007t0004g0065 a0001c0007t0004g0077 a0001c0024t0022g0148 a0013c0023t0010g0011	6	264	0.0227	-26	c.-38 others(45): Show c.-38-24063_-38-24038delATATATATATATATATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	1/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56211163	GTATATGT others(19): Show GTATATGTATATATACATATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01346.hp1 HG01346.hp2 others(2): Show HG01071.hp1 HG01346.hp1 HG01346.hp2 HG01515.hp2 HG02572.hp1	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0001c0002 a0006c0011 others(1): Show a0001c0001 a0001c0002 a0006c0011 a0008c0012	a0001c0001t0003 a0001c0002t0002 a0006c0011t0004 others(1): Show a0001c0001t0003 a0001c0002t0002 a0006c0011t0004 a0008c0012t0004	a0001c0001t0003g0092 a0001c0002t0002g0197 a0006c0011t0004g0090 others(2): Show a0001c0001t0003g0092 a0001c0002t0002g0197 a0006c0011t0004g0090 a0006c0011t0004g0091 a0008c0012t0004g0030	5	264	0.0189	-26	c.-38 others(45): Show c.-38-28533_-38-28508delTACATATATATGTATATATACATATA	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	1/29			chr6	TogoVar
COL22A1_chr8_138583235_138919041	138625325	TCAAAAAA others(19): Show TCAAAAAAAAATCCAGTGTGGCTGGAA	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0127 a0002c0004t0001g0127	1	158	0.0063	-26	c.371 others(43): Show c.3717+839_3717+864delTTCCAGCCACACTGGATTTTTTTTTG	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	51/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138664209	GCACACAC others(19): Show GCACACACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0093 a0001c0008t0002g0093	1	158	0.0063	-26	c.315 others(43): Show c.3151-495_3151-470delTGTGTGTGTGTGTGTGTGTGTGTGTG	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	41/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138865776	AGTGTATG others(19): Show AGTGTATGTTTGTATGCCTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18944.hp1 HG03139.hp1 NA18944.hp1	a0001 a0002 a0001 a0002	a0001c0056 a0002c0007 a0001c0056 a0002c0007	a0001c0056t0004 a0002c0007t0001 a0001c0056t0004 a0002c0007t0001	a0001c0056t0004g0039 a0002c0007t0001g0081 a0001c0056t0004g0039 a0002c0007t0001g0081	2	158	0.0127	-26	c.658 others(45): Show c.658+11948_658+11973delACACACACAGGCATACAAACATACAC	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	3/64			chr8	TogoVar
COL23A1_chr5_178232618_178595393	178498205	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03209.hp2 HG01358.hp1 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0008 a0002c0002t0001 a0002c0003t0008	a0002c0002t0001g0040 a0002c0003t0008g0231 a0002c0002t0001g0040 a0002c0003t0008g0231	2	236	0.0085	-26	c.361 others(45): Show c.361+62451_361+62476delATATATATATATATATATATATATAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178547189	CCCGACAG others(19): Show CCCGACAGTATCTGATTCACGCCAGCA	C C	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0147 a0001c0001t0005g0147	1	236	0.0042	-26	c.361 others(45): Show c.361+13467_361+13492delTGCTGGCGTGAATCAGATACTGTCGG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar

Search by Variant

Search

Search Results (Total: 6759 hits)