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
CFAP99_chr4_2413955_2468002	2466647	T T	TTGTGTGT others(27): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG03041.hp1 NA18952.hp1 others(1): Show HG02622.hp2 HG03041.hp1 NA18952.hp1 NA19090.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0003 a0002c0001 a0005c0009 a0001c0003 a0002c0001 a0005c0009	a0001c0003t0001 a0002c0001t0001 a0005c0009t0001 a0001c0003t0001 a0002c0001t0001 a0005c0009t0001	a0001c0003t0001g0174 a0001c0003t0001g0232 a0002c0001t0001g0252 others(1): Show a0001c0003t0001g0174 a0001c0003t0001g0232 a0002c0001t0001g0252 a0005c0009t0001g0159	4	350	0.0114	34	c.37 others(45): Show c.3721_*3722insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding		3646		chr4	TogoVar
CFDP1_chr16_75288710_75438503	75349686	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	314	0.0032	34	c.651 others(53): Show c.651-44505_651-44504insATATATATATATATATATATATATAT ATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFHR4_chr1_196883052_196923633	196885464	A A	AGATATAT others(27): Show AGATATATATATTATATATTTATATTTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01123.hp1 HG01175.hp2 others(28): Show HG01071.hp1 HG01123.hp1 HG01175.hp2 HG01192.hp1 HG01346.hp1 HG01891.hp1 HG02145.hp1 HG02257.hp1 HG02451.hp1 HG02572.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG03130.hp2 HG03139.hp1 HG03453.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 NA18906.hp1 NA19030.hp2 NA19240.hp1 NA20752.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0006 a0001c0001 a0002c0002 a0006c0006	a0001c0001t0001 a0002c0002t0001 a0006c0006t0001 a0001c0001t0001 a0002c0002t0001 a0006c0006t0001	a0001c0001t0001g0077 a0002c0002t0001g0011 a0002c0002t0001g0012 others(17): Show a0001c0001t0001g0077 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0027 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0059 a0002c0002t0001g0061 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0087 a0002c0002t0001g0090 a0006c0006t0001g0011	31	350	0.0886	34	c.-26 others(45): Show c.-2687_-2686insGATATATATATTATATATTTATATTTATATATAT	CFHR4	ENSG00000134365.15	transcript	ENST00000608469.6	protein_coding		2587		chr1	TogoVar
CFI_chr4_109735695_109806999	109783811	T T	TAATATAT others(27): Show TAATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03540.hp1 HG01255.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0054 a0001c0002t0002g0025 a0001c0002t0001g0054 a0001c0002t0002g0025	2	354	0.0057	34	c.58- others(51): Show c.58-16988_58-16987insTATATATATATATATATATATATATATA TATATT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	1/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109783812	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01256.hp2 HG01258.hp2 HG01070.hp1 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0004g0007 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0004g0007	3	354	0.0085	34	c.58- others(51): Show c.58-16989_58-16988insATATATATATATATATATATATATATAT ATATAT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	1/12			chr4	TogoVar
CFTR_chr7_117475025_117673665	117612006	G G	GATATATA others(27): Show GATATATATATATATATATGTATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0072 a0001c0001t0004g0072	1	202	0.0050	34	c.336 others(51): Show c.3367+214_3367+215insATGTATATATATATATATATATATATAT ATATAT	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CGNL1_chr15_57371505_57555717	57394101	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02738.hp2 HG00280.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0249 a0001c0001t0002g0252	2	294	0.0068	34	c.-16 others(53): Show c.-16+17537_-16+17538insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGREF1_chr2_27095594_27124128	27116871	T T	TTCTCTCT others(27): Show TTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0086 a0001c0002t0002g0086	1	352	0.0028	34	c.-12 others(51): Show c.-12+1974_-12+1975insGAGAGAGAGGGAGAGAGAGAGAGAGAGA GAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116871	T T	TTCTCTCT others(27): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01175.hp1 HG04204.hp2 others(1): Show HG00673.hp1 HG01175.hp1 HG04204.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0174 a0001c0001t0001g0245 a0001c0001t0001g0246 others(1): Show a0001c0001t0001g0174 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0002t0002g0109	4	352	0.0114	34	c.-12 others(51): Show c.-12+1941_-12+1974dupGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116923	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18944.hp1 NA20300.hp2 HG02886.hp1 NA18944.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0009 a0001c0002t0002 a0002c0003t0009	a0001c0002t0002g0085 a0001c0002t0002g0125 a0002c0003t0009g0084 a0001c0002t0002g0085 a0001c0002t0002g0125 a0002c0003t0009g0084	3	352	0.0085	34	c.-12 others(51): Show c.-12+1922_-12+1923insAAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CHAF1B_chr21_36380392_36424015	36389800	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0325 a0001c0001t0001g0325	1	346	0.0029	34	c.260 others(51): Show c.260-1750_260-1749insTGTGTGTGTGTGTGCGCGCGCGCGCGCG CGCGCG	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHCHD3_chr7_132779870_133087090	132983985	C C	CTCTCCCT others(27): Show CTCTCCCTCTCCCCACGGTCTCCCTCTCCCCACGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(170): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18988.hp1 NA18988.hp2 NA18994.hp1 NA18994.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0002c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 others(170): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0003g0129 a0001c0001t0005g0308 a0001c0001t0006g0310 a0002c0002t0001g0248	173	310	0.5581	34	c.252 others(51): Show c.252-8733_252-8700dupCCGTGGGGAGAGGGAGACCGTGGGGAGA GGGAGA	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	3/7			chr7	TogoVar
CHD1_chr5_98848985_98934007	98911146	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03491.hp1 HG03492.hp2 HG03209.hp2 HG03491.hp1 HG03492.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0009 a0002c0002t0002 a0001c0003t0009 a0002c0002t0002	a0001c0003t0009g0190 a0001c0003t0009g0224 a0002c0002t0002g0083 a0001c0003t0009g0190 a0001c0003t0009g0224 a0002c0002t0002g0083	3	334	0.0090	34	c.54- others(49): Show c.54-6049_54-6048insATATATATATATATATATATATATATATAT ATTT	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD5_chr1_6096787_6185321	6107601	G G	GGAGAGAT others(27): Show GGAGAGATAAAGGGATGTAGGGATGATGAAGGGAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00408.hp2 others(59): Show HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00609.hp1 HG00609.hp2 HG00738.hp2 HG01070.hp1 HG01106.hp2 HG01109.hp2 HG01934.hp2 HG02015.hp2 HG02027.hp2 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02155.hp2 HG02738.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp2 HG03942.hp2 NA18747.hp1 NA18939.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18992.hp2 NA18993.hp2 NA18998.hp1 NA19000.hp2 NA19002.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19081.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0005 others(8): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0001c0011 a0001c0015 a0001c0020 a0001c0023 a0001c0035 a0001c0049 a0003c0018	a0001c0001t0008 a0001c0003t0002 a0001c0003t0008 others(22): Show a0001c0001t0008 a0001c0003t0002 a0001c0003t0008 a0001c0003t0010 a0001c0003t0015 a0001c0003t0021 a0001c0003t0022 a0001c0003t0036 a0001c0003t0046 a0001c0003t0047 a0001c0005t0002 a0001c0008t0002 a0001c0011t0008 a0001c0011t0010 a0001c0011t0021 a0001c0011t0048 a0001c0015t0002 a0001c0015t0008 a0001c0020t0002 a0001c0023t0002 a0001c0023t0074 a0001c0035t0002 a0001c0049t0049 a0003c0018t0002 a0003c0018t0015	a0001c0001t0008g0095 a0001c0003t0002g0022 a0001c0003t0002g0070 others(59): Show a0001c0001t0008g0095 a0001c0003t0002g0022 a0001c0003t0002g0070 a0001c0003t0002g0089 a0001c0003t0002g0090 a0001c0003t0002g0120 a0001c0003t0002g0121 a0001c0003t0002g0122 a0001c0003t0002g0130 a0001c0003t0002g0152 a0001c0003t0002g0158 a0001c0003t0002g0187 a0001c0003t0002g0253 a0001c0003t0002g0256 a0001c0003t0002g0279 a0001c0003t0008g0053 a0001c0003t0008g0116 a0001c0003t0008g0119 a0001c0003t0008g0153 a0001c0003t0008g0155 a0001c0003t0008g0166 a0001c0003t0008g0174 a0001c0003t0008g0273 a0001c0003t0008g0280 a0001c0003t0010g0040 a0001c0003t0010g0117 a0001c0003t0010g0212 a0001c0003t0015g0157 a0001c0003t0015g0181 a0001c0003t0021g0039 a0001c0003t0021g0298 a0001c0003t0022g0192 a0001c0003t0022g0207 a0001c0003t0022g0220 a0001c0003t0036g0008 a0001c0003t0046g0204 a0001c0003t0047g0175 a0001c0005t0002g0112 a0001c0008t0002g0178 a0001c0011t0008g0208 a0001c0011t0008g0265 a0001c0011t0010g0103 a0001c0011t0010g0148 a0001c0011t0010g0160 a0001c0011t0010g0168 a0001c0011t0010g0183 a0001c0011t0010g0184 a0001c0011t0021g0161 a0001c0011t0048g0185 a0001c0015t0002g0129 a0001c0015t0002g0169 a0001c0015t0002g0170 a0001c0015t0008g0209 a0001c0020t0002g0051 a0001c0023t0002g0260 a0001c0023t0074g0315 a0001c0035t0002g0033 a0001c0049t0049g0096 a0003c0018t0002g0167 a0003c0018t0002g0291 a0003c0018t0015g0186 a0003c0018t0015g0188	62	320	0.1938	34	c.557 others(51): Show c.5579-823_5579-822insATCCCTTCATCATCCCTACATCCCTTTA TCTCTC	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	38/41			chr1	TogoVar
CHD6_chr20_41397083_41623377	41504077	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03710.hp1 HG00423.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0295 a0001c0001t0002g0300 a0001c0001t0002g0295 a0001c0001t0002g0300	2	324	0.0062	34	c.853 others(51): Show c.853-4721_853-4720insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	5/36			chr20	TogoVar
CHD9_chr16_53049991_53332497	53146413	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0089 a0001c0005t0005g0089	1	238	0.0042	34	c.-16 others(53): Show c.-164-9512_-164-9511insATATATATATATATATATATATATAT ATATATAT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTATGTAT others(27): Show GTATGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18964.hp1 HG02486.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0069 a0001c0001t0003g0176 a0001c0001t0001g0069 a0001c0001t0003g0176	2	238	0.0084	34	c.-16 others(53): Show c.-164-9504_-164-9503insGTATATATATATATATATATATATAT ATATATAT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTGTATAT others(27): Show GTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03130.hp2 NA18906.hp1 HG01891.hp2 HG03130.hp2 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0124 a0001c0001t0001g0174 a0003c0004t0001g0177 a0001c0001t0001g0124 a0001c0001t0001g0174 a0003c0004t0001g0177	3	238	0.0126	34	c.-16 others(53): Show c.-164-9506_-164-9505insGTATATATATATATATATATATATAT ATATATAT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHMP1B_chr18_11846413_11859444	11849280	T T	TTTTTTAA others(27): Show TTTTTTAATAAGCCAAAAAAAGAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	1	438	0.0023	34	c.-22 others(45): Show c.-2232_-2231insTTTTTAATAAGCCAAAAAAAGAAAAAAAAAAAAA	CHMP1B	ENSG00000255112.3	transcript	ENST00000526991.3	protein_coding		2132		chr18	TogoVar
CHM_chrX_85856180_86052558	85913332	A A	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	245	0.0041	34	c.116 others(53): Show c.1167-1995_1167-1994insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85949978	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0126 a0001c0003t0005g0126	1	245	0.0041	34	c.116 others(53): Show c.1166+6174_1166+6175insATATATATATATATATATATATATAT ATATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85981206	C C	CTATTTCT others(27): Show CTATTTCTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18953.hp1 NA18957.hp1 others(1): Show HG02056.hp1 NA18953.hp1 NA18957.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0041 a0001c0002t0002g0054 a0001c0002t0002g0059 others(1): Show a0001c0002t0002g0041 a0001c0002t0002g0054 a0001c0002t0002g0059 a0001c0002t0002g0069	4	245	0.0163	34	c.189 others(49): Show c.189+530_189+531insTATATATATATATATATATATATATATAGA AATA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	3/14			chrX	TogoVar
CHN1_chr2_174793809_175010381	174847773	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	276	0.0036	34	c.550 others(49): Show c.550-817_550-816insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	6/12			chr2	TogoVar
CHN2_chr7_29189775_29519328	29472301	A A	ACACACAC others(27): Show ACACACACACACACACGCACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0231 a0001c0001t0003g0231	1	232	0.0043	34	c.577 others(51): Show c.577-7968_577-7967insCACACGCACACACACACACACACGCACA CACACA	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHODL_chr21_18239833_18272370	18251729	T T	TTTATTTA others(27): Show TTTATTTATTTATTTTAATATATAAAATAAATATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG01069.hp2 others(5): Show HG00597.hp1 HG00597.hp2 HG01069.hp2 HG02486.hp2 NA18946.hp2 NA19003.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006	a0001c0001t0002g0013 a0001c0001t0004g0012 a0001c0001t0004g0266 others(1): Show a0001c0001t0002g0013 a0001c0001t0004g0012 a0001c0001t0004g0266 a0001c0001t0006g0256	8	402	0.0199	34	c.80- others(49): Show c.80-4779_80-4778insTATTTATTTATTTTAATATATAAAATAAAT ATAT	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHP2_chr16_23750026_23763935	23759381	C C	CTCTTCTT others(27): Show CTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	392	0.0026	34	c.17 others(45): Show c.1798_*1799insTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CHP2	ENSG00000166869.3	transcript	ENST00000300113.3	protein_coding		447		chr16	TogoVar
CHRDL1_chrX_110668856_110800817	110689544	C C	CTCTATAT others(27): Show CTCTATATATCTATATATCTATATATCTATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0104 a0001c0001t0027g0104	1	172	0.0058	34	c.779 others(49): Show c.779-742_779-741insTATATATAGATATATAGATATATAGATATA TAGA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110689564	A A	ATATATAT others(27): Show ATATATATCTATATATCTATATATCTATATATATC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0003 a0001c0001t0036g0003	1	172	0.0058	34	c.779 others(49): Show c.779-762_779-761insGATATATATAGATATATAGATATATAGATA TATA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110689656	C C	CTATATAT others(27): Show CTATATATCTATATATATCTATATATCATCTATAT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	172	0.0058	34	c.779 others(49): Show c.779-854_779-853insATATAGATGATATATAGATATATATAGATA TATA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRFAM7A_chr15_30355566_30398540	30360310	C C	CACTTCTA others(27): Show CACTTCTACTTGTTTCTAAAGACACTGTAACAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(13): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00738.hp1 HG00738.hp2 HG01257.hp1 HG01261.hp2 HG01361.hp1 HG02572.hp1 HG02647.hp1 HG02698.hp1 HG02735.hp1 HG03017.hp1 HG03017.hp2 HG03239.hp2 NA18999.hp1	a0002 a0003 a0002 a0003	a0002c0009 a0002c0010 a0002c0027 others(3): Show a0002c0009 a0002c0010 a0002c0027 a0003c0003 a0003c0019 a0003c0021	a0002c0009t0008 a0002c0010t0021 a0002c0027t0008 others(5): Show a0002c0009t0008 a0002c0010t0021 a0002c0027t0008 a0003c0003t0002 a0003c0003t0019 a0003c0003t0022 a0003c0019t0002 a0003c0021t0002	a0002c0009t0008g0101 a0002c0009t0008g0102 a0002c0009t0008g0104 others(13): Show a0002c0009t0008g0101 a0002c0009t0008g0102 a0002c0009t0008g0104 a0002c0009t0008g0105 a0002c0010t0021g0016 a0002c0027t0008g0106 a0003c0003t0002g0006 a0003c0003t0002g0008 a0003c0003t0002g0009 a0003c0003t0002g0010 a0003c0003t0002g0012 a0003c0003t0002g0015 a0003c0003t0019g0004 a0003c0003t0022g0007 a0003c0019t0002g0011 a0003c0021t0002g0013	16	133	0.1203	34	c.19 others(45): Show c.1982_*1983insTTCTGTTACAGTGTCTTTAGAAACAAGTAGAAGT	CHRFAM7A	ENSG00000166664.15	transcript	ENST00000299847.7	protein_coding		255		chr15	TogoVar
CHRFAM7A_chr15_30355566_30398540	30393865	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00609.hp2 others(26): Show HG00423.hp1 HG00438.hp2 HG00609.hp2 HG00621.hp2 HG01358.hp1 HG01515.hp2 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02132.hp1 HG02738.hp1 HG03471.hp2 HG03490.hp2 HG03540.hp1 HG03710.hp2 NA18971.hp1 NA18971.hp2 NA18983.hp2 NA19009.hp1 NA19056.hp2 NA19066.hp1 NA19075.hp1 NA19240.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0007 a0002c0002 others(1): Show a0001c0001 a0001c0007 a0002c0002 a0006c0029	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0033 a0001c0007t0001 a0002c0002t0001 a0002c0002t0004 a0006c0029t0013	a0001c0001t0001g0003 a0001c0001t0001g0049 a0001c0001t0001g0050 others(26): Show a0001c0001t0001g0003 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0004g0065 a0001c0001t0004g0070 a0001c0001t0011g0114 a0001c0001t0014g0068 a0001c0001t0014g0090 a0001c0001t0015g0079 a0001c0001t0015g0088 a0001c0001t0033g0130 a0001c0007t0001g0098 a0002c0002t0001g0047 a0002c0002t0004g0057 a0006c0029t0013g0061	29	133	0.2181	34	c.-77 others(43): Show c.-771_-770insTAGACACACACACACACACACACACACACACACA	CHRFAM7A	ENSG00000166664.15	transcript	ENST00000299847.7	protein_coding		326		chr15	TogoVar
CHRM1_chr11_62903679_62926363	62924654	C C	CTATATAT others(27): Show CTATATATATATATATATATACATATATATATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0028 a0001c0003t0002g0028	1	420	0.0024	34	c.-35 others(45): Show c.-3516_-3515insCACATATATATATGTATATATATATATATATATA	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3292		chr11	TogoVar
CHRM1_chr11_62903679_62926363	62924668	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	420	0.0024	34	c.-35 others(45): Show c.-3530_-3529insTATATATATATATATAGAGAGAGAGAGAGAGAGA	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3306		chr11	TogoVar
CHRM2_chr7_136863652_137025213	136972729	T T	TGATGGTG others(27): Show TGATGGTGACGGTGTTAGGGATGGTGGCAGGTGAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01261.hp1 HG01943.hp2 others(18): Show HG00609.hp1 HG01261.hp1 HG01943.hp2 HG02004.hp1 HG02004.hp2 HG02148.hp2 HG02523.hp2 HG02738.hp1 HG03492.hp1 NA18939.hp1 NA18952.hp2 NA18955.hp1 NA18964.hp2 NA18970.hp2 NA18973.hp1 NA18975.hp2 NA18989.hp2 NA19007.hp2 NA19085.hp2 NA19087.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0011 a0001c0001 a0001c0005 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0041 a0001c0001t0052 a0001c0005t0006 a0001c0011t0001	a0001c0001t0001g0013 a0001c0001t0001g0189 a0001c0001t0001g0190 others(18): Show a0001c0001t0001g0013 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0207 a0001c0001t0002g0152 a0001c0001t0002g0203 a0001c0001t0002g0266 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0004g0090 a0001c0001t0005g0182 a0001c0001t0005g0269 a0001c0001t0006g0153 a0001c0001t0006g0228 a0001c0001t0041g0318 a0001c0001t0052g0206 a0001c0005t0006g0279 a0001c0011t0001g0038	21	320	0.0656	34	c.-12 others(55): Show c.-124-19118_-124-19085dupCGATGGTGACGGTGTTAGGGATGG TGGCAGGTGA	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	136973069	C C	CGATGGTG others(27): Show CGATGGTGACGGTGTTAGGGATGGTGGCAGGTGAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG00639.hp1 others(7): Show HG00423.hp1 HG00597.hp2 HG00639.hp1 HG02622.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03471.hp1 HG03927.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0021 a0005c0008t0083	a0001c0001t0001g0016 a0001c0001t0001g0195 a0001c0001t0005g0142 others(6): Show a0001c0001t0001g0016 a0001c0001t0001g0195 a0001c0001t0005g0142 a0001c0001t0011g0002 a0001c0001t0011g0209 a0001c0001t0011g0210 a0001c0001t0011g0211 a0001c0001t0021g0050 a0005c0008t0083g0104	10	320	0.0313	34	c.-12 others(55): Show c.-124-19022_-124-18989dupAGGTGATGATGGTGACGGTGTTAG GGATGGTGGC	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	136973328	T T	TGGTGACG others(27): Show TGGTGACGGTGTTAGGGATGGTGGCAGGTGATGAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02922.hp1 HG02965.hp2 others(2): Show HG00639.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0002 a0001c0001t0011g0209 a0001c0001t0011g0210 others(1): Show a0001c0001t0011g0002 a0001c0001t0011g0209 a0001c0001t0011g0210 a0001c0001t0011g0211	5	320	0.0156	34	c.-12 others(55): Show c.-124-18733_-124-18700dupCAGGTGATGACGGTGACGGTGTTA GGGATGGTGG	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	137011215	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0214 a0001c0001t0057g0214	1	320	0.0031	34	c.-46 others(51): Show c.-46-3604_-46-3603insGTGTGTGTGTGTATATATATATATATAT ATATAT	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM3_chr1_239381568_239920450	239580689	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0048 a0001c0005t0048	a0001c0005t0048g0081 a0001c0005t0048g0081	1	116	0.0086	34	c.-31 others(55): Show c.-313+34956_-313+34957insTATATATATATATATATATATATA TATATATATA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239684748	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	116	0.0086	34	c.-14 others(53): Show c.-147+6461_-147+6462insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239684770	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG04115.hp2 NA18944.hp2 others(1): Show HG03927.hp1 HG04115.hp2 NA18944.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0044 others(1): Show a0001c0001t0001 a0001c0001t0023 a0001c0001t0044 a0001c0001t0052	a0001c0001t0001g0054 a0001c0001t0023g0007 a0001c0001t0044g0104 others(1): Show a0001c0001t0001g0054 a0001c0001t0023g0007 a0001c0001t0044g0104 a0001c0001t0052g0106	4	116	0.0345	34	c.-14 others(53): Show c.-147+6483_-147+6484insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM4_chr11_46378789_46396776	46390059	C C	CTTGCATG others(27): Show CTTGCATGCACAAGCAAATGCAGGGCCGAGAGTGG	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	308	0.0033	34	c.-30 others(51): Show c.-30+1438_-30+1471dupCCACTCTCGGCCCTGCATTTGCTTGTGC ATGCAA	CHRM4	ENSG00000180720.8	transcript	ENST00000682254.1	protein_coding	1/1			chr11	TogoVar
CHRNA4_chr20_63338223_63366349	63359867	C C	CTGTGTGT others(27): Show CTGTGTGTGTGTGTGTGTGCGCCGGGCGTGCGCTG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0127 a0001c0003t0005g0127	1	168	0.0060	34	c.77- others(47): Show c.77-169_77-168insCAGCGCACGCCCGGCGCACACACACACACACA CA	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	1/5			chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63359903	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTGTGCCGGGCGTGCGC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0008 a0001c0009t0008	a0001c0009t0008g0036 a0001c0009t0008g0036	1	168	0.0060	34	c.77- others(47): Show c.77-205_77-204insGCGCACGCCCGGCACACACACACACACACACA CA	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	1/5			chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63359913	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGCCGGGCGTGCGCTGTGTA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0037 a0001c0004t0037	a0001c0004t0037g0145 a0001c0004t0037g0145	1	168	0.0060	34	c.77- others(47): Show c.77-215_77-214insTACACAGCGCACGCCCGGCACACACACACACA CA	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	1/5			chr20	TogoVar
CHRNB3_chr8_42692366_42742407	42703435	A A	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	282	0.0036	34	c.53- others(49): Show c.53-5281_53-5280insAAAAAAAAAATATATATATATATATATATA TATA	CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHRNB3_chr8_42692366_42742407	42703435	A A	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18961.hp1 NA18747.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0178 a0001c0001t0002g0179	2	282	0.0071	34	c.53- others(49): Show c.53-5281_53-5280insAAAAAAAATATATATATATATATATATATA TATA	CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHRNB3_chr8_42692366_42742407	42703435	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	282	0.0036	34	c.53- others(49): Show c.53-5281_53-5280insAAAAAATATATATATATATATATATATATA TATA	CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHRNB3_chr8_42692366_42742407	42703435	A A	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02735.hp1 HG02145.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0227 a0001c0001t0005g0250 a0001c0001t0002g0227 a0001c0001t0005g0250	2	282	0.0071	34	c.53- others(49): Show c.53-5281_53-5280insAAAATATATATATATATATATATATATATA TATA	CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHST13_chr3_126519155_126548291	126535158	G G	GAGACAGA others(27): Show GAGACAGACAGCATCCCTGTCCCCAGCCGGGAGAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp2 HG01496.hp1 others(1): Show HG00735.hp2 HG01074.hp2 HG01496.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	4	364	0.0110	34	c.98- others(49): Show c.98-1098_98-1065dupCCTGTCCCCAGCCGGGAGACAGACAGACAG CATC	CHST13	ENSG00000180767.11	transcript	ENST00000319340.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHST13_chr3_126519155_126548291	126535551	A A	AGCAGGGA others(27): Show AGCAGGGAGACAGACAGACAGCATCGCTTTCCTCG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0120 a0003c0004t0001g0120	1	364	0.0028	34	c.98- others(47): Show c.98-718_98-717insAGGGAGACAGACAGACAGCATCGCTTTCCTCG GC	CHST13	ENSG00000180767.11	transcript	ENST00000319340.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar

Search by Variant

Search

Search Results (Total: 7994 hits)