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
ARHGEF10_chr8_1818926_1963641	1825108	C C	CCCGCACC others(30): Show CCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0004 a0001c0036t0004	a0001c0036t0004g0177 a0001c0036t0004g0177	1	363	0.0028	37	c.-48 others(52): Show c.-48+997_-48+998insGCACCCCACCTGTCCCCCTGCACCCCACCT GTTCACC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF18_chr19_7343937_7477478	7367875	T T	TATATACA others(30): Show TATATACACATATATATATTTTATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0015 a0001c0002t0036g0015	1	298	0.0034	37	c.16- others(52): Show c.16-4932_16-4931insCACATATATATATTTTATATATATATATAC ACATATA	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF1_chr19_41878184_41912452	41893782	G G	GGGGGCCT others(30): Show GGGGGCCTGGACGCCTGGGTCTGAGGGAGGAGGAGGCT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0083	1	234	0.0043	37	c.645 others(52): Show c.645-421_645-420insCCTGGACGCCTGGGTCTGAGGGAGGAGGAG GCTGGGG	ARHGEF1	ENSG00000076928.20	transcript	ENST00000354532.8	protein_coding	8/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF38_chr4_105547620_105685914	105561400	T T	TAGAATAG others(30): Show TAGAATAGAATAGAATAGAATGGAATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0158 a0002c0001t0001g0158	1	186	0.0054	37	c.196 others(54): Show c.196+8440_196+8441insGAATAGAATAGAATAGAATGGAATAGAA TAGAATAGA	ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGEF38_chr4_105547620_105685914	105561400	T T	TAGAATAG others(30): Show TAGAATAGAATAGAATGGAATGGAATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0112 a0001c0002t0003g0112	1	186	0.0054	37	c.196 others(54): Show c.196+8440_196+8441insGAATAGAATAGAATGGAATGGAATAGAA TAGAATAGA	ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARID4A_chr14_58293555_58378876	58337246	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	294	0.0034	37	c.906 others(54): Show c.906+7077_906+7078insATATATATATATATATATATATATATAT ATATATATA	ARID4A	ENSG00000032219.19	transcript	ENST00000355431.8	protein_coding	11/23			chr14	TogoVar
ARID5B_chr10_61896699_62101944	62098780	G G	GTCTGGCA others(30): Show GTCTGGCAAGGTCTATCATATCTATAACCAGGAAACCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	242	0.0041	37	c.57 others(48): Show c.5750_*5751insTCTGGCAAGGTCTATCATATCTATAACCAGGAAA CCA	ARID5B	ENSG00000150347.17	transcript	ENST00000279873.12	protein_coding		1837		chr10	TogoVar
ARL14EP_chr11_30318104_30343223	30334208	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA20905.hp2 NA19065.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0096 a0001c0001t0001g0060 a0001c0001t0001g0096	2	400	0.0050	37	c.554 others(54): Show c.554+1240_554+1241insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	ARL14EP	ENSG00000152219.5	transcript	ENST00000282032.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARL5C_chr17_39151894_39171161	39153340	T T	TGTGTGTG others(30): Show TGTGTGTGTGTGTGTGTGTGTGTAGTTGTGTGGTGTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	410	0.0024	37	c.35 others(48): Show c.3553_*3554insCAACACCACACAACTACACACACACACACACACA CAC	ARL5C	ENSG00000141748.13	transcript	ENST00000269586.12	protein_coding		3553		chr17	TogoVar
ARMC10_chr7_103070140_103104759	103099593	T T	TGTGTGTG others(30): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01099.hp2 HG01169.hp2 HG01256.hp1 others(2): Show HG01099.hp2 HG01169.hp2 HG01256.hp1 HG01496.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0047 a0001c0001t0057 a0001c0001t0038 a0001c0001t0047 a0001c0001t0057	a0001c0001t0038g0001 a0001c0001t0038g0007 a0001c0001t0047g0027 others(1): Show a0001c0001t0038g0001 a0001c0001t0038g0007 a0001c0001t0047g0027 a0001c0001t0057g0001	5	390	0.0128	37	c.10 others(48): Show c.1040_*1041insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTG	ARMC10	ENSG00000170632.14	transcript	ENST00000323716.8	protein_coding	7/7	1041		chr7	TogoVar
ARMC9_chr2_231193631_231381848	231249801	A A	ACCCACCC others(30): Show ACCCACCCGTGCACACCTCCACGGGAGGGAGACCACCG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0028 a0001c0003t0007g0028	1	200	0.0050	37	c.880 others(54): Show c.880-6600_880-6564dupGCCCACCCGTGCACACCTCCACGGGAGG GAGACCACC	ARMC9	ENSG00000135931.19	transcript	ENST00000611582.5	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARSD_chrX_2898972_2934339	2901496	T T	TTCTCGTG others(30): Show TTCTCGTGATAGTGAATAAGTCTTTTGTGATATGCTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00558.hp1 others(106): Show HG00408.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01109.hp1 HG01243.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp2 NA18941.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18952.hp1 NA18956.hp1 NA18961.hp1 NA18963.hp1 NA18965.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18987.hp1 NA18989.hp1 NA18991.hp2 NA18993.hp2 NA18997.hp1 NA18998.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19077.hp1 NA19078.hp2 NA19084.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0006 a0002c0002 others(11): Show a0001c0001 a0001c0006 a0002c0002 a0002c0005 a0002c0010 a0003c0003 a0003c0007 a0003c0015 a0003c0018 a0003c0019 a0004c0004 a0004c0012 a0005c0008 a0005c0020	a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 others(34): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 a0001c0001t0019 a0001c0001t0031 a0001c0006t0008 a0001c0006t0024 a0001c0006t0041 a0002c0002t0001 a0002c0002t0014 a0002c0002t0045 a0002c0005t0019 a0002c0005t0020 a0002c0010t0008 a0003c0003t0002 a0003c0003t0005 a0003c0003t0011 a0003c0003t0022 a0003c0003t0023 a0003c0003t0039 a0003c0003t0042 a0003c0003t0049 a0003c0003t0050 a0003c0003t0052 a0003c0007t0002 a0003c0007t0005 a0003c0015t0005 a0003c0018t0038 a0003c0019t0011 a0004c0004t0002 a0004c0004t0005 a0004c0004t0021 a0004c0004t0037 a0004c0012t0005 a0005c0008t0018 a0005c0008t0027 a0005c0020t0026	a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0007g0204 others(93): Show a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0007g0204 a0001c0001t0013g0167 a0001c0001t0013g0208 a0001c0001t0013g0221 a0001c0001t0013g0224 a0001c0001t0019g0026 a0001c0001t0031g0143 a0001c0006t0008g0091 a0001c0006t0008g0092 a0001c0006t0008g0093 a0001c0006t0008g0225 a0001c0006t0008g0226 a0001c0006t0024g0219 a0001c0006t0024g0228 a0001c0006t0041g0229 a0002c0002t0001g0037 a0002c0002t0001g0046 a0002c0002t0014g0096 a0002c0002t0014g0209 a0002c0002t0014g0222 a0002c0002t0045g0245 a0002c0005t0019g0193 a0002c0005t0020g0072 a0002c0005t0020g0211 a0002c0010t0008g0028 a0002c0010t0008g0029 a0003c0003t0002g0001 a0003c0003t0002g0016 a0003c0003t0002g0248 a0003c0003t0002g0260 a0003c0003t0002g0261 a0003c0003t0002g0272 a0003c0003t0002g0276 a0003c0003t0002g0279 a0003c0003t0002g0284 a0003c0003t0002g0295 a0003c0003t0002g0296 a0003c0003t0002g0297 a0003c0003t0002g0298 a0003c0003t0002g0302 a0003c0003t0002g0305 a0003c0003t0002g0306 a0003c0003t0002g0307 a0003c0003t0002g0312 a0003c0003t0005g0033 a0003c0003t0005g0038 a0003c0003t0005g0065 a0003c0003t0005g0075 a0003c0003t0005g0105 a0003c0003t0005g0196 a0003c0003t0005g0218 a0003c0003t0011g0235 a0003c0003t0011g0237 a0003c0003t0011g0275 a0003c0003t0011g0277 a0003c0003t0022g0102 a0003c0003t0022g0107 a0003c0003t0023g0032 a0003c0003t0023g0101 a0003c0003t0039g0034 a0003c0003t0042g0111 a0003c0003t0049g0278 a0003c0003t0050g0293 a0003c0003t0052g0314 a0003c0007t0002g0234 a0003c0007t0005g0019 a0003c0007t0005g0031 a0003c0007t0005g0144 a0003c0007t0005g0145 a0003c0007t0005g0146 a0003c0007t0005g0149 a0003c0015t0005g0125 a0003c0018t0038g0206 a0003c0019t0011g0300 a0004c0004t0002g0265 a0004c0004t0002g0266 a0004c0004t0002g0287 a0004c0004t0002g0288 a0004c0004t0002g0292 a0004c0004t0005g0083 a0004c0004t0005g0094 a0004c0004t0005g0106 a0004c0004t0005g0128 a0004c0004t0005g0129 a0004c0004t0005g0130 a0004c0004t0005g0151 a0004c0004t0005g0227 a0004c0004t0021g0117 a0004c0004t0021g0135 a0004c0004t0037g0152 a0004c0012t0005g0127 a0005c0008t0018g0006 a0005c0008t0027g0027 a0005c0020t0026g0210	109	344	0.3169	37	c.57 others(48): Show c.5774_*5775insTCAGCATATCACAAAAGACTTATTCACTATCACG AGA	ARSD	ENSG00000006756.16	transcript	ENST00000381154.6	protein_coding		2475		chrX	TogoVar
ASAP1_chr8_130047104_130448674	130123706	A A	AAGCTCCG others(30): Show AAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0004 a0001c0001t0007g0004	1	308	0.0033	37	c.160 others(54): Show c.1607+270_1607+306dupGAGGCAGGAGAATGGCATGAACCCGGGA GGCGGAGCT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	18/29			chr8	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAAAAAT others(30): Show AAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA18946.hp2 HG02004.hp2 NA18946.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0014 a0002c0001t0001 a0002c0001t0014	a0002c0001t0001g0092 a0002c0001t0014g0091 a0002c0001t0001g0092 a0002c0001t0014g0091	2	210	0.0095	37	c.127 others(56): Show c.127-25080_127-25079insAAAAATATATATATATATATATATAT ATATATATATA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9397750	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0174 a0001c0003t0016g0174	1	210	0.0048	37	c.268 others(56): Show c.2685-2272_2685-2271insATATATATATATATATATATATATAT TTTTTTTTTTT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	24/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASB18_chr2_236188459_236269406	236202794	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02976.hp1 HG02055.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0203 a0001c0001t0001g0204	2	250	0.0080	37	c.110 others(56): Show c.1102-6410_1102-6409insATATATATATATATATATATATATAT TTTTTTTTTTT	ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	4/5			chr2	TogoVar
ASB5_chr4_176208673_176274222	176218550	G G	GATATATA others(30): Show GATATATAAATATATATATATTTGTATGATATATAAAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02809.hp2 HG02897.hp2 others(1): Show HG01884.hp2 HG02809.hp2 HG02897.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0304 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0304	4	410	0.0098	37	c.671 others(54): Show c.671-1542_671-1541insATTTATATATCATACAAATATATATATA TTTATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASCC1_chr10_72091032_72221276	72198338	G G	GCGGAGGG others(30): Show GCGGAGGGGAGGGAGAGGGGAGGGGAGAGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0161 a0004c0005t0005g0161	1	216	0.0046	37	c.311 others(54): Show c.311-1350_311-1349insTCCCCCTCCCTCTCCCCTCCCCTCTCCC TCCCCTCCG	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASCC2_chr22_29783611_29843274	29837174	T T	TAATCCCA others(30): Show TAATCCCAGCGCTTTGGGAGGCCAAGGCGGGCGGATCA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0110 a0002c0002t0002g0110	1	372	0.0027	37	c.-18 others(53): Show c.-18+967_-18+1003dupTGATCCGCCCGCCTTGGCCTCCCAAAGCG CTGGGATT	ASCC2	ENSG00000100325.15	transcript	ENST00000307790.8	protein_coding	1/19			chr22	TogoVar
ASCC3_chr6_100503194_100886329	100608451	A A	ATATATAT others(30): Show ATATATATACCTTATATATATTTTATATATATATACTT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0011 a0002c0003t0002g0011	1	314	0.0032	37	c.478 others(56): Show c.4786-1364_4786-1363insAAGTATATATATATAAAATATATATA AGGTATATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASIP_chr20_34236423_34274344	34258700	A A	ATATATAT others(30): Show ATATATATATATATATATATATATACACACACACATAC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	306	0.0033	37	c.-10 others(54): Show c.-10-1656_-10-1655insATATATATATATATACACACACACATAC TATATATAT	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASIP_chr20_34236423_34274344	34258700	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATACACACATAC	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	306	0.0033	37	c.-10 others(54): Show c.-10-1656_-10-1655insATATATATATATATATATACACACATAC TATATATAT	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASPG_chr14_104080700_104120582	104085483	A A	ACCCCGCC others(30): Show ACCCCGCCAGGCCCCGCCCCCATCCCGTCAGGCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02647.hp2 HG03130.hp1 HG02451.hp1 HG02647.hp2 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0019 a0002c0002t0002 a0002c0002t0019	a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0019g0174 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0019g0174	3	368	0.0082	37	c.-28 others(46): Show c.-288_-287insCCCCGCCAGGCCCCGCCCCCATCCCGTCAGGCCCCG C	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding		216		chr14	TogoVar
ASRGL1_chr11_62332448_62398412	62383631	A A	AAAAAAAA others(30): Show AAAAAAAAAAAGAACATCATCAGGCCAGGCTTGGTGGC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0022 a0001c0006t0022	a0001c0006t0022g0160 a0001c0006t0022g0160	1	370	0.0027	37	c.492 others(54): Show c.492-5502_492-5501insAAAAAAAAAAGAACATCATCAGGCCAGG CTTGGTGGC	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6			chr11	TogoVar
ATAD1_chr10_87746512_87823226	87798625	G G	GTGTGTGT others(30): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0067	1	360	0.0028	37	c.163 others(54): Show c.163-5871_163-5870insACACACACACACACACACACACACACAC ACACACACA	ATAD1	ENSG00000138138.14	transcript	ENST00000680024.1	protein_coding	2/9			chr10	TogoVar
ATAD2B_chr2_23743664_23932123	23745422	A A	AAGGAAGG others(30): Show AAGGAAGGAAGGAAAGGGAAGGGAAGGGAAGGGAAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0234 a0001c0002t0003g0234	1	246	0.0041	37	c.66 others(48): Show c.6623_*6624insCCCTTCCCTTCCCTTCCCTTCCCTTTCCTTCCTT CCT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding		3241		chr2	TogoVar
ATAD2_chr8_123314850_123401447	123354864	A A	AAAAAAAT others(30): Show AAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0261 a0002c0003t0001g0261	1	278	0.0036	37	c.164 others(56): Show c.1646+1524_1646+1525insATATATATATATATATATATATATAT ATATATTTTTT	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	13/27			chr8	TogoVar
ATAD2_chr8_123314850_123401447	123377091	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18965.hp2 NA20129.hp2 HG00609.hp2 NA18965.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0242 a0001c0001t0001g0264 a0001c0001t0002g0040 a0001c0001t0001g0242 a0001c0001t0001g0264 a0001c0001t0002g0040	3	278	0.0108	37	c.320 others(54): Show c.320+3437_320+3438insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	2/27			chr8	TogoVar
ATCAY_chr19_3875685_3933082	3914235	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02818.hp2 HG02965.hp1 others(1): Show HG01884.hp1 HG02818.hp2 HG02965.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0195 a0001c0001t0001g0332 others(1): Show a0001c0001t0001g0159 a0001c0001t0001g0195 a0001c0001t0001g0332 a0001c0001t0001g0340	4	384	0.0104	37	c.965 others(52): Show c.965+394_965+395insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATF1_chr12_50759101_50826162	50823624	A A	ATCTATAT others(30): Show ATCTATATTATATATAATATAGATTATATAATCTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01074.hp1 HG01243.hp2 others(4): Show HG00741.hp2 HG01074.hp1 HG01243.hp2 HG01257.hp2 HG01934.hp2 HG02698.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0017 a0001c0001t0001 a0001c0001t0012 a0001c0001t0017	a0001c0001t0001g0001 a0001c0001t0001g0268 a0001c0001t0001g0271 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0283 a0001c0001t0012g0001 a0001c0001t0017g0280	7	382	0.0183	37	c.38 others(48): Show c.3845_*3846insTCTATATTATATATAATATAGATTATATAATCTA TAT	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding		2463		chr12	TogoVar
ATF6_chr1_161761320_161969070	161920294	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0063 a0004c0005t0063	a0004c0005t0063g0316 a0004c0005t0063g0316	1	332	0.0030	37	c.180 others(56): Show c.1804+7932_1804+7933insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	ATF6	ENSG00000118217.7	transcript	ENST00000367942.4	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATF7IP_chr12_14360682_14507930	14505964	T T	TACTGTTA others(30): Show TACTGTTAAATCCATTGAATAACAGATAGGACAACTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	346	0.0029	37	c.78 others(48): Show c.7891_*7892insACTGTTAAATCCATTGAATAACAGATAGGACAAC TGA	ATF7IP	ENSG00000171681.13	transcript	ENST00000261168.9	protein_coding		3035		chr12	TogoVar
ATG10_chr5_81967023_82261133	82118400	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02015.hp2 NA18974.hp2 HG00597.hp2 HG02015.hp2 NA18974.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0004c0004t0008 a0003c0003t0001 a0004c0004t0008	a0003c0003t0001g0201 a0003c0003t0001g0206 a0004c0004t0008g0198 a0003c0003t0001g0201 a0003c0003t0001g0206 a0004c0004t0008g0198	3	226	0.0133	37	c.217 others(56): Show c.217-45994_217-45993insATATATATATATATATATATATATAT ATATATTATAT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG10_chr5_81967023_82261133	82121941	G G	GTTTTTTT others(30): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0130 a0001c0001t0003g0130	1	226	0.0044	37	c.217 others(56): Show c.217-42439_217-42438insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATL2_chr2_38288954_38382273	38337486	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0140 a0001c0001t0006g0140	1	236	0.0042	37	c.363 others(54): Show c.363+5781_363+5782insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12			chr2	TogoVar
ATOSA_chr15_52576321_52684388	52679772	T T	TCCTCCTC others(30): Show TCCTCCTCCTCCTCCTCCCCCCTCCCCCTCCTTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0137 a0001c0003t0001g0137	1	362	0.0028	37	c.-10 others(48): Show c.-1047_-1046insGGGGGAAGGAGGGGGAGGGGGGAGGAGGAGGAGG AGG	ATOSA	ENSG00000047346.13	transcript	ENST00000619572.5	protein_coding		385		chr15	TogoVar
ATP2B4_chr1_203621832_203749081	203719574	G G	GTGGTGCG others(30): Show GTGGTGCGTCCCTGTAATCCCAGCCACAGATCGCGTGT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0003 a0005c0018t0003	a0005c0018t0003g0050 a0005c0018t0003g0050	1	318	0.0031	37	c.240 others(54): Show c.2407-949_2407-948insAGATCGCGTGTTGGTGCGTCCCTGTAAT CCCAGCCAC	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP5MC1_chr17_48887787_48900871	48899067	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	334	0.0030	37	c.32 others(48): Show c.3298_*3299insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	ATP5MC1	ENSG00000159199.14	transcript	ENST00000393366.7	protein_coding		3197		chr17	TogoVar
ATP5MC2_chr12_53660170_53681083	53672083	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	418	0.0024	37	c.39+ others(50): Show c.39+492_39+493insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	2/4			chr12	TogoVar
ATP5ME_chr4_667436_679276	668886	T T	TGCTATTC others(30): Show TGCTATTCCCCTACCCCATGCTGCTCCCACTACCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG02071.hp2 HG00544.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	394	0.0051	37	c.35 others(48): Show c.3577_*3613dupGTGGGGTAGTGGGAGCAGCATGGGGTAGGGGAAT AGC	ATP5ME	ENSG00000169020.10	transcript	ENST00000304312.5	protein_coding		3549		chr4	TogoVar
ATP6V0A4_chr7_138701294_138803196	138737113	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02015.hp2 HG02129.hp2 others(19): Show HG00673.hp1 HG02015.hp2 HG02129.hp2 HG02135.hp2 HG03098.hp2 HG03453.hp1 NA18612.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18962.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18990.hp1 NA19066.hp1 NA19074.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0001c0014 others(3): Show a0001c0001 a0001c0005 a0001c0014 a0002c0002 a0003c0022 a0004c0041	a0001c0001t0001 a0001c0005t0001 a0001c0014t0001 others(3): Show a0001c0001t0001 a0001c0005t0001 a0001c0014t0001 a0002c0002t0001 a0003c0022t0001 a0004c0041t0004	a0001c0001t0001g0048 a0001c0001t0001g0078 a0001c0001t0001g0090 others(19): Show a0001c0001t0001g0048 a0001c0001t0001g0078 a0001c0001t0001g0090 a0001c0001t0001g0106 a0001c0001t0001g0127 a0001c0001t0001g0157 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0185 a0001c0001t0001g0194 a0001c0001t0001g0271 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0342 a0001c0005t0001g0123 a0001c0014t0001g0125 a0002c0002t0001g0203 a0002c0002t0001g0264 a0003c0022t0001g0289 a0004c0041t0004g0006	22	376	0.0585	37	c.157 others(56): Show c.1572+2426_1572+2427insTATATATATATATATATATATATATA TATATATATAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	15/21			chr7	TogoVar
ATP8A2_chr13_25366974_26030851	25399980	G G	GACAGGAT others(30): Show GACAGGATCTTGCTCTTTCAGCCAGGCTGGAGTGCAGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00738.hp2 others(99): Show HG00642.hp1 HG00642.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18952.hp1 NA18952.hp2 NA18977.hp1 NA18977.hp2 NA18986.hp1 NA18986.hp2 NA19004.hp1 NA19004.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(89): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0035 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0046 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0054 a0001c0001t0064 a0001c0001t0066 a0001c0001t0072 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0009 a0001c0002t0010 a0001c0002t0016 a0001c0002t0020 a0001c0002t0028 a0001c0002t0029 a0001c0002t0031 a0001c0002t0032 a0001c0002t0047 a0001c0002t0058 a0001c0002t0063 a0001c0002t0070 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0007 a0001c0003t0008 a0001c0003t0009 a0001c0003t0010 a0001c0003t0014 a0001c0003t0018 a0001c0003t0027 a0001c0003t0052 a0001c0003t0061 a0001c0003t0062 a0001c0003t0065 a0001c0003t0069 a0001c0003t0073 a0001c0004t0003 a0001c0004t0005 a0001c0004t0022 a0001c0004t0049 a0001c0004t0068 a0001c0005t0012 a0001c0005t0021 a0001c0005t0023 a0001c0005t0044 a0001c0006t0006 a0001c0006t0020 a0001c0006t0043 a0001c0007t0001 a0001c0007t0007 a0001c0008t0013 a0001c0008t0033 a0001c0009t0037 a0001c0009t0038 a0001c0010t0012 a0001c0010t0056 a0001c0011t0017 a0001c0012t0002 a0001c0014t0034 a0001c0015t0008 a0001c0016t0045 a0001c0017t0036 a0001c0018t0024 a0001c0019t0007 a0001c0020t0019	a0001c0001t0001g0036 a0001c0001t0002g0079 a0001c0001t0003g0093 others(99): Show a0001c0001t0001g0036 a0001c0001t0002g0079 a0001c0001t0003g0093 a0001c0001t0004g0040 a0001c0001t0004g0046 a0001c0001t0005g0102 a0001c0001t0008g0073 a0001c0001t0010g0100 a0001c0001t0011g0061 a0001c0001t0011g0062 a0001c0001t0011g0063 a0001c0001t0013g0005 a0001c0001t0015g0082 a0001c0001t0016g0104 a0001c0001t0017g0051 a0001c0001t0018g0041 a0001c0001t0019g0004 a0001c0001t0024g0003 a0001c0001t0025g0009 a0001c0001t0026g0090 a0001c0001t0035g0043 a0001c0001t0040g0038 a0001c0001t0041g0044 a0001c0001t0042g0059 a0001c0001t0046g0045 a0001c0001t0048g0122 a0001c0001t0050g0025 a0001c0001t0051g0053 a0001c0001t0053g0114 a0001c0001t0054g0103 a0001c0001t0064g0072 a0001c0001t0066g0092 a0001c0001t0072g0027 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0060 a0001c0002t0001g0069 a0001c0002t0001g0083 a0001c0002t0002g0037 a0001c0002t0003g0088 a0001c0002t0004g0056 a0001c0002t0006g0119 a0001c0002t0009g0042 a0001c0002t0010g0118 a0001c0002t0016g0011 a0001c0002t0020g0097 a0001c0002t0028g0014 a0001c0002t0029g0052 a0001c0002t0031g0058 a0001c0002t0032g0023 a0001c0002t0047g0076 a0001c0002t0058g0101 a0001c0002t0063g0050 a0001c0002t0070g0068 a0001c0003t0001g0106 a0001c0003t0002g0108 a0001c0003t0006g0078 a0001c0003t0007g0109 a0001c0003t0008g0010 a0001c0003t0009g0107 a0001c0003t0010g0026 a0001c0003t0014g0084 a0001c0003t0014g0111 a0001c0003t0018g0057 a0001c0003t0027g0047 a0001c0003t0052g0113 a0001c0003t0061g0055 a0001c0003t0062g0024 a0001c0003t0065g0033 a0001c0003t0069g0012 a0001c0003t0073g0001 a0001c0004t0003g0007 a0001c0004t0005g0089 a0001c0004t0022g0054 a0001c0004t0049g0086 a0001c0004t0068g0071 a0001c0005t0012g0020 a0001c0005t0021g0030 a0001c0005t0023g0002 a0001c0005t0044g0018 a0001c0006t0006g0098 a0001c0006t0020g0085 a0001c0006t0043g0095 a0001c0007t0001g0081 a0001c0007t0007g0094 a0001c0008t0013g0074 a0001c0008t0033g0075 a0001c0009t0037g0008 a0001c0009t0038g0112 a0001c0010t0012g0091 a0001c0010t0056g0006 a0001c0011t0017g0121 a0001c0012t0002g0110 a0001c0014t0034g0064 a0001c0015t0008g0015 a0001c0016t0045g0105 a0001c0017t0036g0019 a0001c0018t0024g0066 a0001c0019t0007g0029 a0001c0020t0019g0067	102	122	0.8361	37	c.76+ others(54): Show c.76+27692_76+27693insACAGGATCTTGCTCTTTCAGCCAGGCTG GAGTGCAGT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36			chr13	TogoVar
ATRNL1_chr10_115088365_115953999	115381432	A A	ATTTTTTT others(30): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG04115.hp2 NA19011.hp1 HG01361.hp1 HG04115.hp2 NA19011.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0004 a0001c0002t0005 a0001c0009t0005 a0001c0002t0004 a0001c0002t0005 a0001c0009t0005	a0001c0002t0004g0067 a0001c0002t0005g0057 a0001c0009t0005g0059 a0001c0002t0004g0067 a0001c0002t0005g0057 a0001c0009t0005g0059	3	128	0.0234	37	c.317 others(58): Show c.3176-13210_3176-13209insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATXN7L1_chr7_105599772_105881599	105731748	A A	AAAAAGAA others(30): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01884.hp2 HG01891.hp1 others(17): Show HG01074.hp2 HG01884.hp2 HG01891.hp1 HG02015.hp2 HG02451.hp1 HG02622.hp1 HG02896.hp1 HG03579.hp2 NA18747.hp1 NA18954.hp2 NA18962.hp2 NA18994.hp1 NA19000.hp1 NA19003.hp2 NA19009.hp2 NA19010.hp1 NA19066.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0018 a0001c0001t0042 a0001c0001t0053 a0001c0005t0007 a0002c0002t0032 a0006c0010t0031	a0001c0001t0001g0005 a0001c0001t0001g0145 a0001c0001t0001g0185 others(17): Show a0001c0001t0001g0005 a0001c0001t0001g0145 a0001c0001t0001g0185 a0001c0001t0002g0021 a0001c0001t0002g0056 a0001c0001t0002g0179 a0001c0001t0004g0203 a0001c0001t0006g0117 a0001c0001t0008g0015 a0001c0001t0009g0055 a0001c0001t0010g0095 a0001c0001t0011g0099 a0001c0001t0011g0157 a0001c0001t0011g0164 a0001c0001t0018g0131 a0001c0001t0042g0161 a0001c0001t0053g0031 a0001c0005t0007g0209 a0002c0002t0032g0226 a0006c0010t0031g0204	20	252	0.0794	37	c.355 others(56): Show c.355+56855_355+56856insCTTTTCTTTTCTCTTTTCTTTTCTTT TCTTTTCTTTT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105731748	A A	AAAGAGAA others(30): Show AAAGAGAAAAGAAAAGAAAAGAAAAGAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0168 a0001c0001t0006g0168	1	252	0.0040	37	c.355 others(56): Show c.355+56855_355+56856insCTTTTCTTTTCTCTTTTCTTTTCTTT TCTTTTCTCTT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105733881	T T	TCCATCTA others(30): Show TCCATCTATGCTTCCATCCATCCACCCATCCATCCATC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0202 a0001c0001t0007g0202	1	252	0.0040	37	c.355 others(56): Show c.355+54722_355+54723insGATGGATGGATGGGTGGATGGATGGA AGCATAGATGG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
AUTS2_chr7_69593475_70798506	70053544	G G	GTTTGTTT others(30): Show GTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19240.hp2 HG02257.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0006 a0001c0004t0012 a0001c0001t0006 a0001c0004t0012	a0001c0001t0006g0010 a0001c0004t0012g0024 a0001c0001t0006g0010 a0001c0004t0012g0024	2	76	0.0263	37	c.523 others(56): Show c.523-64585_523-64584insGTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33899460	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0250	1	266	0.0038	37	c.446 others(56): Show c.446-23466_446-23465insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AXIN2_chr17_65523563_65566648	65565214	A A	ATTTGATG others(30): Show ATTTGATGTAAACCCGTAGGTAAGGTGAGCGGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0045 a0001c0003t0001g0045	1	402	0.0025	37	c.-38 others(48): Show c.-3882_-3881insCGCCCCCCGCTCACCTTACCTACGGGTTTACATC AAA	AXIN2	ENSG00000168646.14	transcript	ENST00000307078.10	protein_coding		3567		chr17	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0200 a0001c0001t0005g0200	1	268	0.0037	37	c.-38 others(48): Show c.-3878_-3877insTATATATATATATATATATATATATATATATATT TTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar

Search by Variant

Search

Search Results (Total: 3614 hits)