Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ABLIM1_chr10_114426112_114663275	114536227	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01099.hp1 HG01099.hp2 others(16): Show HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG02615.hp2 HG02698.hp2 HG02723.hp2 HG02895.hp2 HG03139.hp2 HG03471.hp2 HG03831.hp2 HG03927.hp1 HG04115.hp1 NA18991.hp1 NA18997.hp2 NA19000.hp2 NA19063.hp1 NA19090.hp1 NA20805.hp1	a0001 a0009 a0001 a0009	a0001c0002 a0001c0003 a0009c0016 a0001c0002 a0001c0003 a0009c0016	a0001c0002t0026 a0001c0003t0001 a0001c0003t0002 others(12): Show a0001c0002t0026 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0007 a0001c0003t0024 a0001c0003t0035 a0001c0003t0039 a0001c0003t0069 a0001c0003t0088 a0001c0003t0113 a0001c0003t0121 a0001c0003t0125 a0001c0003t0126 a0009c0016t0109	a0001c0002t0026g0112 a0001c0003t0001g0231 a0001c0003t0002g0041 others(16): Show a0001c0002t0026g0112 a0001c0003t0001g0231 a0001c0003t0002g0041 a0001c0003t0002g0054 a0001c0003t0002g0074 a0001c0003t0005g0071 a0001c0003t0007g0121 a0001c0003t0007g0216 a0001c0003t0024g0249 a0001c0003t0035g0140 a0001c0003t0039g0126 a0001c0003t0039g0127 a0001c0003t0069g0219 a0001c0003t0088g0113 a0001c0003t0113g0186 a0001c0003t0121g0167 a0001c0003t0125g0082 a0001c0003t0126g0163 a0009c0016t0109g0128	19	256	0.0742	-13	c.894 others(30): Show c.894+8765_894+8777delAAAAAAAAAAAAA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	6/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583453	ACACACAC others(6): Show ACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0044 a0001c0003t0014g0044	1	256	0.0039	-13	c.380 others(30): Show c.380-7867_380-7855delGTGTGTGTGTGTG	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM2_chr4_7960327_8163813	8003561	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA21309.hp1 HG03041.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0134 a0001c0002t0001g0287 a0001c0002t0001g0134 a0001c0002t0001g0287	2	322	0.0062	-13	c.161 others(32): Show c.1618+4485_1618+4497delAAAAAAAAAAAAA	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	16/20			chr4	TogoVar
ABLIM3_chr5_149136493_149265542	149222661	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp1 HG02896.hp1 others(5): Show HG02572.hp2 HG02630.hp1 HG02896.hp1 HG02965.hp1 HG03098.hp1 HG03471.hp1 HG03486.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0002c0005	a0001c0001t0004 a0001c0001t0009 a0001c0003t0004 others(2): Show a0001c0001t0004 a0001c0001t0009 a0001c0003t0004 a0001c0006t0014 a0002c0005t0008	a0001c0001t0004g0074 a0001c0001t0004g0089 a0001c0001t0004g0119 others(5): Show a0001c0001t0004g0074 a0001c0001t0004g0089 a0001c0001t0004g0119 a0001c0001t0009g0076 a0001c0003t0004g0018 a0001c0006t0014g0214 a0002c0005t0008g0116 a0002c0005t0008g0117	8	258	0.0310	-13	c.757 others(30): Show c.757+5627_757+5639delTTTTTTTTTTTTT	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABRAXAS1_chr4_83454517_83490100	83471189	ATCTTTTT others(6): Show ATCTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG03834.hp1 NA18942.hp1 others(2): Show HG01993.hp1 HG03834.hp1 NA18942.hp1 NA18962.hp1 NA18962.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0008 a0002c0002 a0004c0008	a0002c0002t0001 a0002c0002t0008 a0004c0008t0012 a0002c0002t0001 a0002c0002t0008 a0004c0008t0012	a0002c0002t0001g0173 a0002c0002t0001g0175 a0002c0002t0001g0203 others(2): Show a0002c0002t0001g0173 a0002c0002t0001g0175 a0002c0002t0001g0203 a0002c0002t0008g0174 a0004c0008t0012g0160	5	356	0.0140	-13	c.283 others(28): Show c.283-806_283-794delAAAAAAAAAAAGA	ABRAXAS1	ENSG00000163322.14	transcript	ENST00000321945.12	protein_coding	4/8			chr4	TogoVar
ABRA_chr8_106754483_106775244	106758499	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG03486.hp2 HG02135.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0005 a0001c0002t0003g0004 a0001c0001t0001g0005 a0001c0002t0003g0004	2	440	0.0046	-13	c.25 others(24): Show c.2525_*2537delAAAAAAAAAAAAA	ABRA	ENSG00000174429.4	transcript	ENST00000311955.4	protein_coding		983		chr8	TogoVar
ABR_chr17_998519_1184981	1024024	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18962.hp1 NA18979.hp1 others(1): Show NA18943.hp2 NA18962.hp1 NA18979.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0022 a0001c0001t0006 a0001c0001t0010 a0001c0001t0022	a0001c0001t0006g0204 a0001c0001t0006g0233 a0001c0001t0010g0314 others(1): Show a0001c0001t0006g0204 a0001c0001t0006g0233 a0001c0001t0010g0314 a0001c0001t0022g0047	4	337	0.0119	-13	c.179 others(34): Show c.1792-10873_1792-10861delTTTTTTTTTTTTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1076716	GGGGGGGT others(6): Show GGGGGGGTGGGGGT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0156 a0001c0001t0075g0156	1	337	0.0030	-13	c.700 others(30): Show c.700+2601_700+2613delACCCCCACCCCCC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	6/22			chr17	TogoVar
ABR_chr17_998519_1184981	1079788	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00544.hp2 others(76): Show HG00280.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG01243.hp1 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02280.hp2 HG02486.hp2 HG02523.hp2 HG02615.hp1 HG02647.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03209.hp2 HG03453.hp1 HG03490.hp2 HG03491.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 NA18906.hp1 NA18944.hp1 NA18944.hp2 NA18954.hp2 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18979.hp1 NA18980.hp2 NA18995.hp2 NA18999.hp1 NA19005.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19060.hp2 NA19065.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0013 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0032 a0001c0001t0058 a0001c0001t0059 a0001c0001t0061 a0001c0001t0072 a0001c0001t0075 a0001c0001t0079 a0001c0001t0082 a0001c0001t0086 a0001c0001t0087 a0001c0001t0089 a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0002t0042 a0001c0002t0060 a0001c0003t0012 a0001c0003t0017 a0001c0003t0021 a0001c0003t0083 a0001c0004t0024 a0001c0013t0018 a0002c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0061 others(75): Show a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0083 a0001c0001t0001g0101 a0001c0001t0001g0146 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0002g0099 a0001c0001t0002g0145 a0001c0001t0002g0151 a0001c0001t0002g0170 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0003g0062 a0001c0001t0003g0117 a0001c0001t0003g0222 a0001c0001t0004g0252 a0001c0001t0004g0255 a0001c0001t0004g0258 a0001c0001t0004g0297 a0001c0001t0004g0334 a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0277 a0001c0001t0005g0278 a0001c0001t0005g0318 a0001c0001t0006g0215 a0001c0001t0007g0251 a0001c0001t0007g0317 a0001c0001t0008g0026 a0001c0001t0008g0042 a0001c0001t0009g0018 a0001c0001t0009g0045 a0001c0001t0009g0046 a0001c0001t0009g0050 a0001c0001t0010g0274 a0001c0001t0010g0310 a0001c0001t0010g0321 a0001c0001t0011g0125 a0001c0001t0013g0028 a0001c0001t0019g0211 a0001c0001t0021g0272 a0001c0001t0022g0031 a0001c0001t0022g0047 a0001c0001t0032g0259 a0001c0001t0058g0076 a0001c0001t0059g0166 a0001c0001t0061g0149 a0001c0001t0072g0175 a0001c0001t0075g0156 a0001c0001t0079g0267 a0001c0001t0082g0302 a0001c0001t0086g0294 a0001c0001t0087g0311 a0001c0001t0089g0331 a0001c0002t0007g0295 a0001c0002t0008g0037 a0001c0002t0011g0109 a0001c0002t0011g0228 a0001c0002t0042g0016 a0001c0002t0060g0234 a0001c0003t0012g0119 a0001c0003t0017g0120 a0001c0003t0021g0276 a0001c0003t0083g0285 a0001c0004t0024g0041 a0001c0013t0018g0108 a0002c0005t0001g0186 a0002c0005t0001g0197	79	337	0.2344	-13	c.640 others(28): Show c.640-411_640-399delTTTTTTTTTTTTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	5/22			chr17	TogoVar
ABR_chr17_998519_1184981	1125787	TGTCACTT others(6): Show TGTCACTTCCTGTG	T T	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	337	0.0030	-13	c.62- others(26): Show c.62-433_62-421delCACAGGAAGTGAC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABTB2_chr11_34145987_34363010	34155650	TCTAGGAG others(6): Show TCTAGGAGAAGGCC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0243 a0002c0002t0026g0243	1	246	0.0041	-13	c.269 others(30): Show c.2698-894_2698-882delGGCCTTCTCCTAG	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	14/16			chr11	TogoVar
ABTB2_chr11_34145987_34363010	34174324	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0234 a0002c0002t0002g0234	1	246	0.0041	-13	c.124 others(32): Show c.1245-1030_1245-1018delTTTTTTTTTTTTT	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	3/16			chr11	TogoVar
ABTB3_chr12_107313434_107664642	107335286	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp2 HG02809.hp1 others(6): Show HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp1 HG03225.hp2 HG03486.hp1 HG03579.hp2 NA20300.hp1 NA20905.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0002c0015 a0004c0005 a0005c0016 a0006c0014	a0001c0001t0002 a0001c0001t0030 a0001c0003t0002 others(5): Show a0001c0001t0002 a0001c0001t0030 a0001c0003t0002 a0002c0002t0038 a0002c0015t0007 a0004c0005t0008 a0005c0016t0003 a0006c0014t0008	a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0030g0081 others(6): Show a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0030g0081 a0001c0003t0002g0146 a0002c0002t0038g0184 a0002c0015t0007g0166 a0004c0005t0008g0053 a0005c0016t0003g0161 a0006c0014t0008g0126	9	186	0.0484	-13	c.113 others(34): Show c.1135+15239_1135+15251delAAAAAAAAAAAAA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107370757	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01168.hp2 HG01169.hp1 others(3): Show HG01081.hp1 HG01168.hp2 HG01169.hp1 HG02486.hp1 HG02818.hp2 HG03471.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0012 a0003c0004 others(2): Show a0001c0001 a0001c0012 a0003c0004 a0003c0020 a0007c0010	a0001c0001t0002 a0001c0012t0027 a0003c0004t0001 others(2): Show a0001c0001t0002 a0001c0012t0027 a0003c0004t0001 a0003c0020t0001 a0007c0010t0003	a0001c0001t0002g0093 a0001c0012t0027g0023 a0003c0004t0001g0022 others(3): Show a0001c0001t0002g0093 a0001c0012t0027g0023 a0003c0004t0001g0022 a0003c0004t0001g0024 a0003c0020t0001g0028 a0007c0010t0003g0162	6	186	0.0323	-13	c.113 others(34): Show c.1135+50698_1135+50710delTTTTTTTTTTTTT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107433467	GAGCTTGA others(6): Show GAGCTTGACAAGCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01433.hp2 HG01496.hp1 others(13): Show HG00280.hp2 HG01433.hp2 HG01496.hp1 HG01943.hp1 HG01993.hp1 HG02738.hp1 NA18954.hp1 NA18954.hp2 NA18964.hp2 NA18981.hp1 NA18983.hp1 NA18999.hp2 NA19065.hp2 NA19070.hp1 NA19086.hp1 NA19090.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0010	a0001c0001 a0001c0003 a0002c0002 others(5): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0003c0006 a0005c0007 a0005c0016 a0010c0017	a0001c0001t0003 a0001c0003t0002 a0001c0003t0005 others(9): Show a0001c0001t0003 a0001c0003t0002 a0001c0003t0005 a0001c0003t0006 a0002c0002t0004 a0002c0002t0010 a0003c0004t0004 a0003c0006t0002 a0003c0006t0005 a0005c0007t0003 a0005c0016t0003 a0010c0017t0003	a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0003t0002g0141 others(13): Show a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0003t0002g0141 a0001c0003t0002g0159 a0001c0003t0005g0133 a0001c0003t0005g0158 a0001c0003t0006g0147 a0002c0002t0004g0110 a0002c0002t0004g0112 a0002c0002t0010g0173 a0003c0004t0004g0002 a0003c0006t0002g0139 a0003c0006t0005g0130 a0005c0007t0003g0119 a0005c0016t0003g0063 a0010c0017t0003g0111	16	186	0.0860	-13	c.113 others(34): Show c.1136-87017_1136-87005delCTTGACAAGCAAG	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107508438	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA19086.hp2 HG02056.hp2 NA19086.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0016 a0003c0004t0001 a0003c0004t0016	a0003c0004t0001g0040 a0003c0004t0016g0005 a0003c0004t0001g0040 a0003c0004t0016g0005	2	186	0.0108	-13	c.113 others(34): Show c.1136-12031_1136-12019delTTTTTTTTTTTTT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107578383	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02622.hp1 HG02717.hp1 others(2): Show HG02280.hp2 HG02622.hp1 HG02717.hp1 HG02723.hp2 HG02896.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0013	a0001c0012 a0002c0015 a0004c0005 others(1): Show a0001c0012 a0002c0015 a0004c0005 a0013c0024	a0001c0012t0001 a0001c0012t0004 a0002c0015t0007 others(2): Show a0001c0012t0001 a0001c0012t0004 a0002c0015t0007 a0004c0005t0009 a0013c0024t0001	a0001c0012t0001g0047 a0001c0012t0004g0039 a0002c0015t0007g0166 others(2): Show a0001c0012t0001g0047 a0001c0012t0004g0039 a0002c0015t0007g0166 a0004c0005t0009g0103 a0013c0024t0001g0019	5	186	0.0269	-13	c.149 others(32): Show c.1491-2750_1491-2738delTTTTTTTTTTTTT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107608943	AAATAAAA others(6): Show AAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0003 a0003	a0003c0029 a0003c0029	a0003c0029t0002 a0003c0029t0002	a0003c0029t0002g0131 a0003c0029t0002g0131	1	186	0.0054	-13	c.164 others(32): Show c.1644-1245_1644-1233delATAAAATAAAATA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACA_chr17_37079992_37411836	37119588	AAACACAC others(6): Show AAACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0134 a0001c0003t0006g0134	1	299	0.0033	-13	c.627 others(32): Show c.6274+1754_6274+1766delGTGTGTGTGTGTT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	50/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174001	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0241 a0001c0003t0001g0241	1	299	0.0033	-13	c.507 others(32): Show c.5079+5246_5079+5258delTATATATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174003	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG03831.hp1 HG02293.hp2 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0114 a0001c0003t0001g0143 a0001c0003t0001g0114 a0001c0003t0001g0143	2	299	0.0067	-13	c.507 others(32): Show c.5079+5244_5079+5256delTATATATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174005	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02040.hp2 HG00140.hp2 HG02040.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0060 a0001c0003t0001g0066 a0001c0003t0001g0060 a0001c0003t0001g0066	2	299	0.0067	-13	c.507 others(32): Show c.5079+5242_5079+5254delTATATATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174007	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG01433.hp1 others(19): Show HG00558.hp1 HG00609.hp1 HG01433.hp1 HG01517.hp1 HG02080.hp2 HG02083.hp2 HG02698.hp2 HG03017.hp1 HG03491.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG04115.hp1 NA18747.hp1 NA18939.hp2 NA18943.hp1 NA18975.hp2 NA18984.hp2 NA18991.hp2 NA19003.hp2 NA19062.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0012 a0002c0013	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(6): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0013 a0001c0003t0030 a0001c0005t0001 a0001c0012t0001 a0002c0013t0001	a0001c0001t0001g0208 a0001c0003t0001g0058 a0001c0003t0001g0064 others(19): Show a0001c0001t0001g0208 a0001c0003t0001g0058 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0069 a0001c0003t0001g0075 a0001c0003t0001g0077 a0001c0003t0001g0088 a0001c0003t0001g0124 a0001c0003t0001g0163 a0001c0003t0001g0220 a0001c0003t0001g0258 a0001c0003t0001g0282 a0001c0003t0001g0295 a0001c0003t0002g0019 a0001c0003t0002g0038 a0001c0003t0006g0144 a0001c0003t0013g0072 a0001c0003t0030g0057 a0001c0005t0001g0222 a0001c0012t0001g0147 a0002c0013t0001g0071	22	299	0.0736	-13	c.507 others(32): Show c.5079+5240_5079+5252delTATATATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174008	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA18964.hp1 HG01167.hp1 NA18964.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0080 a0001c0003t0001g0109 a0001c0003t0001g0080 a0001c0003t0001g0109	2	299	0.0067	-13	c.507 others(32): Show c.5079+5239_5079+5251delATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174010	ATATATAT others(6): Show ATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0111 a0001c0003t0014g0111	1	299	0.0033	-13	c.507 others(32): Show c.5079+5237_5079+5249delAAATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37201513	CTTCCTCT others(6): Show CTTCCTCTTCCCTA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01261.hp1 HG00733.hp2 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0004 a0001c0002t0002g0006	2	299	0.0067	-13	c.405 others(32): Show c.4057-1043_4057-1031delTAGGGAAGAGGAA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	33/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37217752	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03098.hp2 HG02976.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0035 a0001c0001t0001 a0001c0001t0035	a0001c0001t0001g0293 a0001c0001t0035g0299 a0001c0001t0001g0293 a0001c0001t0035g0299	2	299	0.0067	-13	c.368 others(32): Show c.3683+3959_3683+3971delGTTTTTTTTTTTT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	29/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37260283	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0276 a0001c0004t0005g0276	1	299	0.0033	-13	c.133 others(30): Show c.1330-766_1330-754delTATATATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	11/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37260288	ATATATAT others(6): Show ATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	299	0.0033	-13	c.133 others(30): Show c.1330-771_1330-759delAAAAATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	11/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37347755	AAAAAGAA others(6): Show AAAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0299 a0001c0001t0035g0299	1	299	0.0033	-13	c.39- others(28): Show c.39-7918_39-7906delCTTTCTTTCTTTT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACB_chr12_109111587_109273226	109133859	ATATATTT others(6): Show ATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0014 a0014	a0014c0077 a0014c0077	a0014c0077t0004 a0014c0077t0004	a0014c0077t0004g0118 a0014c0077t0004g0118	1	308	0.0033	-13	c.-9- others(28): Show c.-9-5536_-9-5524delATATTTTTTTTTT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	1/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAD10_chr12_111681053_111762099	111755798	AACTCTCC others(6): Show AACTCTCCTATCTT	A A	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	336	0.0030	-13	c.303 others(28): Show c.3039+54_3039+66delACTCTCCTATCTT	ACAD10	ENSG00000111271.15	transcript	ENST00000313698.9	protein_coding	20/20			chr12	TogoVar
ACADSB_chr10_123004006_123063290	123045154	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0035 a0002c0003t0035	a0002c0003t0035g0171 a0002c0003t0035g0171	1	374	0.0027	-13	c.900 others(28): Show c.900+670_900+682delATATATATATATA	ACADSB	ENSG00000196177.13	transcript	ENST00000358776.7	protein_coding	7/10			chr10	TogoVar
ACADSB_chr10_123004006_123063290	123045156	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG04199.hp2 HG04228.hp2 HG03927.hp1 HG04199.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0040 a0001c0001t0005g0281 a0001c0001t0005g0040 a0001c0001t0005g0281	3	374	0.0080	-13	c.900 others(28): Show c.900+672_900+684delATATATATATATA	ACADSB	ENSG00000196177.13	transcript	ENST00000358776.7	protein_coding	7/10			chr10	TogoVar
ACADSB_chr10_123004006_123063290	123045158	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03490.hp1 HG01081.hp2 HG03490.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0027 a0002c0003t0001g0027	2	374	0.0054	-13	c.900 others(28): Show c.900+674_900+686delATATATATATATA	ACADSB	ENSG00000196177.13	transcript	ENST00000358776.7	protein_coding	7/10			chr10	TogoVar
ACAN_chr15_88798436_88880353	88842714	ACAAATAG others(6): Show ACAAATAGAACTGC	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0065 a0065	a0065c0069 a0065c0069	a0065c0069t0001 a0065c0069t0001	a0065c0069t0001g0156 a0065c0069t0001g0156	1	368	0.0027	-13	c.758 others(28): Show c.758-638_758-626delAATAGAACTGCCA	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAP1_chr17_7331529_7356477	7342907	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	446	0.0022	-13	c.344 others(28): Show c.344+446_345-447delAAAAAAAAAAAAA	ACAP1	ENSG00000072818.12	transcript	ENST00000158762.8	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
ACAP2_chr3_195269745_195448020	195355199	TGTCAATA others(6): Show TGTCAATAAAGCAA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03834.hp1 HG01433.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0303 a0001c0001t0002g0304	2	324	0.0062	-13	c.286 others(30): Show c.286-9895_286-9883delTTGCTTTATTGAC	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	4/22			chr3	TogoVar
ACAP2_chr3_195269745_195448020	195408040	CGGACAAG others(6): Show CGGACAAGCTAGGT	C C	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	324	0.0031	-13	c.54- others(30): Show c.54-15906_54-15894delACCTAGCTTGTCC	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	1/22			chr3	TogoVar
ACAP2_chr3_195269745_195448020	195412164	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18906.hp2 NA19043.hp2 HG02615.hp1 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0037 a0001c0001t0020 a0001c0001t0037	a0001c0001t0020g0322 a0001c0001t0020g0324 a0001c0001t0037g0323 a0001c0001t0020g0322 a0001c0001t0020g0324 a0001c0001t0037g0323	3	324	0.0093	-13	c.54- others(30): Show c.54-20030_54-20018delTTTTTTTTTTTTT	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	1/22			chr3	TogoVar
ACAP3_chr1_1287391_1312930	1289846	TGTCCGTC others(6): Show TGTCCGTCCCCCGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG01109.hp1 others(28): Show HG00438.hp1 HG00621.hp1 HG01109.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02155.hp2 HG02615.hp2 HG02922.hp2 HG02965.hp1 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03490.hp1 HG03540.hp1 HG03942.hp1 HG03942.hp2 NA18954.hp1 NA18962.hp1 NA18971.hp1 NA19000.hp1 NA19002.hp2 NA19005.hp2 NA19009.hp1 NA19066.hp2 NA19070.hp1 NA19087.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0013 a0001c0002t0001 a0001c0003t0002 a0001c0023t0006	a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 others(24): Show a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0169 a0001c0001t0001g0194 a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0025 a0001c0001t0002g0125 a0001c0001t0003g0002 a0001c0001t0003g0123 a0001c0001t0003g0143 a0001c0001t0011g0074 a0001c0001t0013g0128 a0001c0002t0001g0077 a0001c0002t0001g0082 a0001c0002t0001g0087 a0001c0002t0001g0097 a0001c0003t0002g0010 a0001c0023t0006g0218	31	295	0.1051	-13	c.37 others(24): Show c.3705_*3717delTCGGGGGACGGAC	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2544		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289850	CGTCCCCC others(6): Show CGTCCCCCGAGTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG03516.hp2 HG03704.hp1 HG01361.hp2 HG03516.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0033 a0001c0001t0002g0142 a0001c0001t0005g0158 a0001c0001t0001g0033 a0001c0001t0002g0142 a0001c0001t0005g0158	3	295	0.0102	-13	c.37 others(24): Show c.3701_*3713delAGACTCGGGGGAC	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2540		chr1	TogoVar
ACBD4_chr17_45130687_45149176	45133520	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG02109.hp1 HG02559.hp1 others(2): Show HG00140.hp1 HG02109.hp1 HG02559.hp1 HG03041.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0026 a0001c0001t0001g0072 a0001c0001t0001g0087 others(1): Show a0001c0001t0001g0026 a0001c0001t0001g0072 a0001c0001t0001g0087 a0001c0001t0005g0015	5	452	0.0111	-13	c.-24 others(24): Show c.-2470_-2458delTTTTTTTTTTTTT	ACBD4	ENSG00000181513.15	transcript	ENST00000321854.13	protein_coding		2166		chr17	TogoVar
ACBD5_chr10_27190214_27245797	27226918	TGCTGGGA others(6): Show TGCTGGGATTACTA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0355 a0001c0001t0003g0355	1	384	0.0026	-13	c.376 others(30): Show c.376-3479_376-3467delTAGTAATCCCAGC	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD5_chr10_27190214_27245797	27228809	ATATATAT others(6): Show ATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02257.hp1 HG02886.hp2 others(5): Show HG01192.hp1 HG02257.hp1 HG02886.hp2 HG02895.hp2 HG03098.hp2 HG03130.hp1 HG03579.hp2 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0008 a0001c0005t0002 a0001c0005t0008	a0001c0005t0002g0190 a0001c0005t0002g0191 a0001c0005t0002g0192 others(5): Show a0001c0005t0002g0190 a0001c0005t0002g0191 a0001c0005t0002g0192 a0001c0005t0002g0202 a0001c0005t0008g0168 a0001c0005t0008g0169 a0001c0005t0008g0170 a0001c0005t0008g0171	8	384	0.0208	-13	c.375 others(30): Show c.375+2926_375+2938delAAAAAAATATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD5_chr10_27190214_27245797	27228811	ATATATTT others(6): Show ATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02135.hp1 HG01106.hp1 HG02135.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0003c0006 a0001c0005 a0003c0006	a0001c0005t0016 a0003c0006t0004 a0001c0005t0016 a0003c0006t0004	a0001c0005t0016g0195 a0003c0006t0004g0131 a0001c0005t0016g0195 a0003c0006t0004g0131	2	384	0.0052	-13	c.375 others(30): Show c.375+2924_375+2936delAAAAAAAAATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD6_chr1_180283230_180507577	180493247	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	334	0.0030	-13	c.288 others(28): Show c.288-895_288-883delTTTTTTTTTTTTT	ACBD6	ENSG00000230124.8	transcript	ENST00000367595.4	protein_coding	2/7			chr1	TogoVar
ACBD6_chr1_180283230_180507577	180493266	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG02818.hp2 others(1): Show HG02280.hp1 HG02559.hp1 HG02818.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(1): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0120	4	334	0.0120	-13	c.288 others(28): Show c.288-914_288-902delGTTTTTTTTTTTT	ACBD6	ENSG00000230124.8	transcript	ENST00000367595.4	protein_coding	2/7			chr1	TogoVar
ACBD7_chr10_15070475_15093776	15078790	ATTTTACT others(6): Show ATTTTACTGTGCAC	A A	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0066 a0001c0001t0026g0066	1	426	0.0024	-13	c.131 others(26): Show c.131-50_131-38delGTGCACAGTAAAA	ACBD7	ENSG00000176244.7	transcript	ENST00000356189.6	protein_coding	2/3			chr10	TogoVar
ACBD7_chr10_15070475_15093776	15093035	CCTTTTTT others(6): Show CCTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0190 a0001c0001t0011g0190	1	426	0.0024	-13	c.-43 others(24): Show c.-4320_-4308delAAAAAAAAAAAAG	ACBD7	ENSG00000176244.7	transcript	ENST00000356189.6	protein_coding		4260		chr10	TogoVar

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Search Results (Total: 10000 hits)