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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
FAM236A_chrX_72933206_72943958	72943820	C C	CAGGAGGA others(32): Show CAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	158	0.0063	39	c.49 others(50): Show c.4987_*4988insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGG		FAM236A	ENSG00000275520.2	transcript	ENST00000611003.2	protein_coding					4863		chrX	TogoVar
FAM236B_chrX_72776865_72787660	72777021	C C	CCTCCTCC others(32): Show CCTCCTCCTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	110	0.0091	39	c.49 others(50): Show c.4968_*4969insCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGGAGG AGGAG		FAM236B	ENSG00000268994.3	transcript	ENST00000596535.3	protein_coding					4843		chrX	TogoVar
FAM241A_chr4_112140454_112200256	112197333	T T	TAAAAAAA others(32): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01928.hp2 HG02300.hp2 others(5): Show HG00423.hp2 HG01928.hp2 HG02300.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA19007.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0127 others(2): Show a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0127 a0001c0001t0002g0136 a0001c0001t0007g0134	8	388	0.0206	39	c.10 others(52): Show c.10395_*10396insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA		FAM241A	ENSG00000174749.6	transcript	ENST00000309733.6	protein_coding					2078		chr4	TogoVar
FAM47A_chrX_34124752_34137314	34130688	C C	CGAGACTG others(32): Show CGAGACTGGACGTCCGACGAGTCTTGGGAGGCTCCGAGCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02818.hp2 HG03195.hp1 HG02818.hp2 HG03195.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0000 a0008c0009t0001g0000	2	324	0.0062	39	c.155 others(48): Show c.1552_1590dupCGCTCGGAGCCTCCCAAGACTCGTCGGACGTCCAGT CTC	p.Leu others(52): Show p.Leu530_Gly531insArgSerGluProProLysThrArgArgThrSe rSerLeu	FAM47A	ENSG00000185448.12	transcript	ENST00000346193.5	protein_coding	1/1	1626/2563	1590/2376	530/791			chrX	TogoVar
FAM83H_chr8_143718933_143738779	143723150	G G	GGGCGCGG others(32): Show GGGCGCGGCCTGTGCTGTCGGTGGCGGAGTTGGGCTGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0006 a0002c0003t0005g0006	1	397	0.0025	39	c.27 others(50): Show c.2770_*2771insTGGCAGCCCAACTCCGCCACCGACAGCACAGGCC GCGCC		FAM83H	ENSG00000180921.7	transcript	ENST00000388913.4	protein_coding					782		chr8	TogoVar
FAM86B2_chr8_12419421_12441400	12436505	A A	AGATGAAC others(32): Show AGATGAACTTATAGGAGGGCGGGGCCTGGGGTGGGGCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 NA18950.hp1 HG03490.hp1 NA18950.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0008 a0006c0006t0008	a0006c0006t0008g0001 a0006c0006t0008g0001	2	50	0.0400	39	c.-16 others(48): Show c.-163_-162insCTGGCCCCACCCCAGGCCCCGCCCTCCTATAAGTTC ATC		FAM86B2	ENSG00000145002.13	transcript	ENST00000262365.9	protein_coding					106		chr8	TogoVar
FAM9B_chrX_9019232_9039127	9022351	A A	ATGTATAA others(32): Show ATGTATAAGATATATATTATATTATGTATAAGATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0018 a0001c0001t0013g0018	1	258	0.0039	39	c.30 others(50): Show c.3057_*3058insATATATATCTTATACATAATATAATATATATCTT ATACA		FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding					1880		chrX	TogoVar
FARP1_chr13_98138094_98460176	98404043	A A	ACATCACC others(32): Show ACATCACCACCACCATCACCACCACCACTGCTACTACCAC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0115	1	218	0.0046	39	c.141 others(58): Show c.1415-5270_1415-5269insACTGCTACTACCACCATCACCACCAC CATCACCACCACC		FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	13/26					INFO_REALIGN_3_PRIME	chr13	TogoVar
FARS2_chr6_5256513_5776583	5392930	A A	ATGTGTGT others(32): Show ATGTGTGTATATATTATATATATGTATATATACATATATG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	170	0.0059	39	c.613 others(58): Show c.613-11605_613-11604insATATATTATATATATGTATATATACA TATATGTGTGTGT		FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5407066	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	170	0.0059	39	c.772 others(56): Show c.772+2366_772+2367insTATATATATATATATATATATATATATA TATATATATAA		FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
FAT1_chr4_186582794_186728856	186723801	T T	TCCCGCGC others(32): Show TCCCGCGCCCTCTCCCCGCGCCCTCTCCCCGCGCCCTCTC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0036 a0036	a0036c0034 a0036c0034	a0036c0034t0060 a0036c0034t0060	a0036c0034t0060g0337 a0036c0034t0060g0337	1	338	0.0030	39	c.-15 others(48): Show c.-157_-156insGAGAGGGCGCGGGGAGAGGGCGCGGGGAGAGGGCGC GGG		FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	1/27				13975		chr4	TogoVar
FAT3_chr11_92219818_92901473	92478953	T T	TCTCTTTC others(32): Show TCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03098.hp1 NA18522.hp2 HG02976.hp2 HG03098.hp1 NA18522.hp2	a0004 a0018 a0026 a0004 a0018 a0026	a0004c0012 a0018c0082 a0026c0040 a0004c0012 a0018c0082 a0026c0040	a0004c0012t0002 a0018c0082t0072 a0026c0040t0002 a0004c0012t0002 a0018c0082t0072 a0026c0040t0002	a0004c0012t0002g0054 a0018c0082t0072g0013 a0026c0040t0002g0115 a0004c0012t0002g0054 a0018c0082t0072g0013 a0026c0040t0002g0115	3	118	0.0254	39	c.329 others(60): Show c.3293-45681_3293-45680insCTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTC		FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27						chr11	TogoVar
FAT3_chr11_92219818_92901473	92478953	T T	TTTCTTTC others(32): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0008 a0008	a0008c0021 a0008c0021	a0008c0021t0024 a0008c0021t0024	a0008c0021t0024g0101 a0008c0021t0024g0101	1	118	0.0085	39	c.329 others(60): Show c.3293-45679_3293-45678insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTT		FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr11	TogoVar
FBLN7_chr2_112133385_112193218	112167869	C C	CGTTATGT others(32): Show CGTTATGTTATGTTATTTATGTTATGTTATGTTATGTTAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02074.hp2 HG02630.hp1 others(1): Show HG00673.hp2 HG02074.hp2 HG02630.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0245 others(1): Show a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0245 a0001c0001t0002g0202	4	346	0.0116	39	c.406 others(56): Show c.406+2713_406+2714insTTATGTTATGTTATGTTATGTTATGTTA TGTTATGTTAT		FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
FBN2_chr5_128252909_128543245	128539884	T T	TCATATAT others(32): Show TCATATATGATCTATCATATATATCATATATCATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(77): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00609.hp2 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01192.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02083.hp2 HG02129.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02273.hp2 HG02523.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG03017.hp1 HG03017.hp2 HG03491.hp2 HG03579.hp1 HG03669.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp1 NA18940.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18956.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA18998.hp2 NA18999.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19063.hp2 NA19065.hp1 NA19074.hp2 NA19079.hp2 NA19084.hp2 NA19085.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0007 a0010 a0014 a0017	a0001c0001 a0001c0003 a0001c0021 others(14): Show a0001c0001 a0001c0003 a0001c0021 a0001c0048 a0001c0054 a0001c0057 a0002c0002 a0002c0023 a0002c0060 a0003c0004 a0003c0012 a0003c0013 a0004c0005 a0007c0022 a0010c0020 a0014c0053 a0017c0061	a0001c0001t0001 a0001c0001t0030 a0001c0003t0001 others(20): Show a0001c0001t0001 a0001c0001t0030 a0001c0003t0001 a0001c0003t0032 a0001c0021t0001 a0001c0048t0001 a0001c0054t0001 a0001c0057t0001 a0002c0002t0001 a0002c0002t0015 a0002c0002t0034 a0002c0002t0035 a0002c0023t0007 a0002c0060t0007 a0003c0004t0001 a0003c0004t0033 a0003c0012t0001 a0003c0013t0007 a0004c0005t0001 a0007c0022t0001 a0010c0020t0001 a0014c0053t0039 a0017c0061t0031	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0142 others(77): Show a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0030g0119 a0001c0003t0001g0178 a0001c0003t0001g0185 a0001c0003t0001g0201 a0001c0003t0001g0204 a0001c0003t0001g0230 a0001c0003t0032g0141 a0001c0021t0001g0206 a0001c0048t0001g0120 a0001c0054t0001g0194 a0001c0057t0001g0202 a0002c0002t0001g0125 a0002c0002t0001g0130 a0002c0002t0001g0132 a0002c0002t0001g0135 a0002c0002t0001g0161 a0002c0002t0001g0163 a0002c0002t0001g0165 a0002c0002t0001g0168 a0002c0002t0001g0207 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0215 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0015g0134 a0002c0002t0034g0167 a0002c0002t0035g0133 a0002c0023t0007g0121 a0002c0060t0007g0228 a0003c0004t0001g0155 a0003c0004t0001g0160 a0003c0004t0033g0128 a0003c0012t0001g0187 a0003c0013t0007g0171 a0003c0013t0007g0203 a0004c0005t0001g0191 a0004c0005t0001g0193 a0004c0005t0001g0205 a0004c0005t0001g0209 a0004c0005t0001g0214 a0004c0005t0001g0232 a0007c0022t0001g0131 a0007c0022t0001g0216 a0010c0020t0001g0149 a0010c0020t0001g0151 a0014c0053t0039g0236 a0017c0061t0031g0169	80	236	0.3390	39	c.-22 others(50): Show c.-2282_-2281insTGATATATGATATATGATATATATGATAGATCAT ATATG		FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding					1640		chr5	TogoVar
FBN2_chr5_128252909_128543245	128539967	T T	TATATATC others(32): Show TATATATCATATATCATATATATCACATATCATATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG02886.hp1 HG03139.hp1 HG01081.hp2 HG02886.hp1 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0008 a0002c0059 a0001c0003 a0001c0008 a0002c0059	a0001c0003t0005 a0001c0008t0029 a0002c0059t0005 a0001c0003t0005 a0001c0008t0029 a0002c0059t0005	a0001c0003t0005g0100 a0001c0008t0029g0117 a0002c0059t0005g0092 a0001c0003t0005g0100 a0001c0008t0029g0117 a0002c0059t0005g0092	3	236	0.0127	39	c.-23 others(50): Show c.-2365_-2364insGATATATATGATATGTGATATATATGATATATGA TATAT		FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding					1723		chr5	TogoVar
FBN2_chr5_128252909_128543245	128539992	T T	TATATATC others(32): Show TATATATCACATATCATATATATCATATATCATATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0012 a0003c0004t0003g0012	1	236	0.0042	39	c.-23 others(50): Show c.-2390_-2389insGATATATATGATATATGATATATATGATATGTGA TATAT		FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding					1748		chr5	TogoVar
FBN2_chr5_128252909_128543245	128539992	T T	TATATATC others(32): Show TATATATCATATATCATATATCATATATATCGTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0008 a0008	a0008c0063 a0008c0063	a0008c0063t0012 a0008c0063t0012	a0008c0063t0012g0096 a0008c0063t0012g0096	1	236	0.0042	39	c.-23 others(50): Show c.-2390_-2389insGATATATACGATATATATGATATATGATATATGA TATAT		FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding					1748		chr5	TogoVar
FBN3_chr19_8060402_8154592	8130636	G G	GGAAGGAA others(32): Show GGAAGGAAGGAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0089 a0089	a0089c0182 a0089c0182	a0089c0182t0001 a0089c0182t0001	a0089c0182t0001g0232 a0089c0182t0001g0232	1	380	0.0026	39	c.204 others(56): Show c.2044+598_2044+599insTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTCCTTCCTTC		FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	16/63						chr19	TogoVar
FBN3_chr19_8060402_8154592	8130636	G G	GGAAGGAA others(32): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0018 a0018	a0018c0014 a0018c0014	a0018c0014t0002 a0018c0014t0002	a0018c0014t0002g0051 a0018c0014t0002g0051	1	380	0.0026	39	c.204 others(56): Show c.2044+598_2044+599insTCCTTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTC		FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	16/63						chr19	TogoVar
FBN3_chr19_8060402_8154592	8130636	G G	GGAAGGAA others(32): Show GGAAGGAAGGAAGGAAGGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0004 a0004	a0004c0076 a0004c0076	a0004c0076t0001 a0004c0076t0001	a0004c0076t0001g0094 a0004c0076t0001g0094	1	380	0.0026	39	c.204 others(56): Show c.2044+598_2044+599insTCCTTTCCTTTCCTTTCCTTTCCCTTCC TTCCTTCCTTC		FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	16/63						chr19	TogoVar
FBRSL1_chr12_132485151_132590188	132550045	C C	CGAGTTTG others(32): Show CGAGTTTGGCATTCCTGCACACGGAGGGTCCCGTCAGGGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02027.hp1 HG02040.hp2 others(19): Show HG00280.hp1 HG02027.hp1 HG02040.hp2 HG02074.hp2 HG02165.hp2 NA18612.hp2 NA18942.hp1 NA18950.hp2 NA18954.hp1 NA18959.hp1 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18975.hp1 NA18986.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19087.hp2	a0000 a0002 a0004 others(4): Show a0000 a0002 a0004 a0007 a0009 a0019 a0020	a0000c0039 a0000c0084 a0000c0085 others(6): Show a0000c0039 a0000c0084 a0000c0085 a0002c0081 a0004c0013 a0007c0010 a0009c0017 a0019c0082 a0020c0083	a0000c0039t0005 a0000c0039t0023 a0000c0084t0036 others(10): Show a0000c0039t0005 a0000c0039t0023 a0000c0084t0036 a0000c0085t0005 a0002c0081t0002 a0004c0013t0005 a0007c0010t0005 a0007c0010t0015 a0007c0010t0041 a0009c0017t0005 a0009c0017t0009 a0019c0082t0005 a0020c0083t0005	a0000c0039t0005g0324 a0000c0039t0023g0331 a0000c0084t0036g0320 others(19): Show a0000c0039t0005g0324 a0000c0039t0023g0331 a0000c0084t0036g0320 a0000c0085t0005g0321 a0002c0081t0002g0344 a0004c0013t0005g0317 a0004c0013t0005g0322 a0004c0013t0005g0325 a0004c0013t0005g0327 a0004c0013t0005g0329 a0007c0010t0005g0237 a0007c0010t0005g0319 a0007c0010t0005g0323 a0007c0010t0005g0328 a0007c0010t0015g0332 a0007c0010t0041g0330 a0009c0017t0005g0333 a0009c0017t0005g0335 a0009c0017t0005g0336 a0009c0017t0009g0334 a0019c0082t0005g0318 a0020c0083t0005g0326	22	348	0.0632	39	c.645 others(56): Show c.645+2045_645+2046insTCAGGGAGAGTTTGGCATTCCTGCACAC GGAGGGTCCCG		FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132562572	C C	CCCCTGCC others(32): Show CCCCTGCCGGCCCTCAGCAGGTGGACAGACCCCTCCCCGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp2 HG01109.hp2 others(20): Show HG00140.hp2 HG01074.hp2 HG01109.hp2 HG01175.hp2 HG01361.hp2 HG01934.hp2 HG02258.hp1 HG02451.hp1 HG02723.hp1 HG02809.hp2 HG02895.hp1 HG02976.hp1 HG03041.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG03654.hp2 HG03704.hp1 NA18522.hp1 NA19043.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(3): Show a0000 a0001 a0002 a0006 a0008 a0010	a0000c0020 a0000c0043 a0000c0058 others(8): Show a0000c0020 a0000c0043 a0000c0058 a0000c0062 a0001c0005 a0001c0006 a0002c0004 a0006c0008 a0008c0027 a0010c0034 a0010c0064	a0000c0020t0010 a0000c0043t0011 a0000c0058t0009 others(12): Show a0000c0020t0010 a0000c0043t0011 a0000c0058t0009 a0000c0062t0055 a0001c0005t0005 a0001c0005t0011 a0001c0006t0009 a0002c0004t0002 a0006c0008t0005 a0006c0008t0007 a0006c0008t0025 a0008c0027t0011 a0008c0027t0026 a0010c0034t0005 a0010c0064t0009	a0000c0020t0010g0126 a0000c0043t0011g0177 a0000c0058t0009g0110 others(20): Show a0000c0020t0010g0126 a0000c0043t0011g0177 a0000c0058t0009g0110 a0000c0062t0055g0142 a0001c0005t0005g0103 a0001c0005t0005g0115 a0001c0005t0011g0144 a0001c0006t0009g0108 a0001c0006t0009g0111 a0001c0006t0009g0112 a0001c0006t0009g0113 a0002c0004t0002g0114 a0006c0008t0005g0252 a0006c0008t0007g0151 a0006c0008t0007g0236 a0006c0008t0007g0254 a0006c0008t0007g0255 a0006c0008t0007g0256 a0006c0008t0025g0251 a0008c0027t0011g0183 a0008c0027t0026g0175 a0010c0034t0005g0116 a0010c0064t0009g0109	23	348	0.0661	39	c.646 others(56): Show c.646-4906_646-4905insTGCCGGCCCTCAGCAGGTGGACAGACCC CTCCCCGACCC		FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
FBXL17_chr5_107854035_108387098	107980664	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0131 a0001c0001t0004g0131	1	244	0.0041	39	c.182 others(60): Show c.1822+40260_1822+40261insAAAAAAATATATATATATATATAT ATATATATATATATA		FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8						chr5	TogoVar
FBXL17_chr5_107854035_108387098	107980664	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0096 a0001c0001t0003g0096	1	244	0.0041	39	c.182 others(60): Show c.1822+40260_1822+40261insAAAAAAAAATATATATATATATAT ATATATATATATATA		FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8						chr5	TogoVar
FBXL17_chr5_107854035_108387098	107980664	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG03831.hp1 NA18970.hp1 others(2): Show HG02132.hp1 HG03831.hp1 NA18970.hp1 NA19057.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0006 a0001c0002t0013 others(1): Show a0001c0001t0004 a0001c0002t0006 a0001c0002t0013 a0001c0002t0029	a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0002t0006g0209 others(2): Show a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0002t0006g0209 a0001c0002t0013g0057 a0001c0002t0029g0151	5	244	0.0205	39	c.182 others(60): Show c.1822+40260_1822+40261insAAAAAAAAAAATATATATATATAT ATATATATATATATA		FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8						chr5	TogoVar
FBXL17_chr5_107854035_108387098	107980664	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18965.hp1 HG01934.hp2 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0019 a0001c0001t0001 a0001c0002t0019	a0001c0001t0001g0152 a0001c0002t0019g0014 a0001c0001t0001g0152 a0001c0002t0019g0014	2	244	0.0082	39	c.182 others(60): Show c.1822+40260_1822+40261insAAAAAAAAAAAAATATATATATAT ATATATATATATATA		FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8						chr5	TogoVar
FBXL17_chr5_107854035_108387098	107980664	A A	ATATATAT others(32): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0237 a0002c0003t0001g0237	1	244	0.0041	39	c.182 others(60): Show c.1822+40260_1822+40261insAAAAAAAAAAAAAAAAATATATAT ATATATATATATATA		FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8						chr5	TogoVar
FBXL17_chr5_107854035_108387098	107980664	A A	ATATATAT others(32): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01934.hp1 HG01978.hp2 others(5): Show HG00544.hp2 HG01934.hp1 HG01978.hp2 HG02257.hp1 HG02300.hp1 HG03490.hp2 HG03492.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0017 a0001c0001t0021 a0001c0002t0006	a0001c0001t0002g0165 a0001c0001t0002g0172 a0001c0001t0003g0164 others(5): Show a0001c0001t0002g0165 a0001c0001t0002g0172 a0001c0001t0003g0164 a0001c0001t0007g0010 a0001c0001t0011g0008 a0001c0001t0017g0005 a0001c0001t0021g0194 a0001c0002t0006g0084	8	244	0.0328	39	c.182 others(60): Show c.1822+40260_1822+40261insAAAAAAAAAAAAAAAAAAATATAT ATATATATATATATA		FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8						chr5	TogoVar
FBXL17_chr5_107854035_108387098	107980664	A A	ATATATAT others(32): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 NA20805.hp2 HG01258.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0162 a0001c0001t0001g0163	2	244	0.0082	39	c.182 others(60): Show c.1822+40260_1822+40261insAAAAAAAAAAAAAAAAAAAAATAT ATATATATATATATA		FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8						chr5	TogoVar
FBXL17_chr5_107854035_108387098	107980664	A A	ATATATAT others(32): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	244	0.0041	39	c.182 others(60): Show c.1822+40260_1822+40261insAAAAAAAAAAAAAAAAAAAAAAAT ATATATATATATATA		FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8						chr5	TogoVar
FBXL17_chr5_107854035_108387098	108232794	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0127 a0001c0001t0015g0127	1	244	0.0041	39	c.150 others(58): Show c.1507-8567_1507-8566insTATATATATATATATATATATATATA TATATATATATAT		FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	4/8						chr5	TogoVar
FBXO25_chr8_401958_482967	477744	C C	CCATCCGC others(32): Show CCATCCGCACCCCAGTCGCATGAGGCTAGATAGATACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0081 a0002c0002t0081	a0002c0002t0081g0178 a0002c0002t0081g0178	1	412	0.0024	39	c.89 others(50): Show c.8940_*8941insCATCCGCACCCCAGTCGCATGAGGCTAGATAGAT ACACA		FBXO25	ENSG00000147364.17	transcript	ENST00000350302.8	protein_coding	10/10				8941		chr8	TogoVar
FBXO27_chr19_39019021_39037549	39031684	C C	CCTCCGAC others(32): Show CCTCCGACACCTCACACCGGCTCCCAATGCTGCCCCGCCT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	424	0.0024	39	c.364 others(54): Show c.364+179_364+180insAGGCGGGGCAGCATTGGGAGCCGGTGTGAG GTGTCGGAG		FBXO27	ENSG00000161243.10	transcript	ENST00000292853.9	protein_coding	2/5						chr19	TogoVar
FBXO27_chr19_39019021_39037549	39031690	G G	GCACCTCA others(32): Show GCACCTCACACCGGCTCCCAATGCTGCCCCGCCCCTCCGA	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA18945.hp2 HG01358.hp1 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	2	424	0.0047	39	c.364 others(54): Show c.364+173_364+174insTCGGAGGGGCGGGGCAGCATTGGGAGCCGG TGTGAGGTG		FBXO27	ENSG00000161243.10	transcript	ENST00000292853.9	protein_coding	2/5						chr19	TogoVar
FBXO34_chr14_55266421_55358611	55323218	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0170 a0001c0001t0004g0170	1	334	0.0030	39	c.-10 others(58): Show c.-10-27163_-10-27162insTATATATATATATATATATATATATA TATATATATATAT		FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1						chr14	TogoVar
FBXO34_chr14_55266421_55358611	55323226	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0178 a0001c0001t0004g0178	1	334	0.0030	39	c.-10 others(58): Show c.-10-27155_-10-27154insATATATATATATATATATATATATAT ATATATATATATA		FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1						chr14	TogoVar
FBXO34_chr14_55266421_55358611	55338048	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03834.hp1 HG02896.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0186 a0001c0001t0004g0179 a0001c0001t0001g0186 a0001c0001t0004g0179	2	334	0.0060	39	c.-10 others(58): Show c.-10-12314_-10-12313insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT		FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO42_chr1_16241840_16357480	16350757	A A	AAAGAAAG others(32): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	294	0.0034	39	c.-18 others(56): Show c.-18+1497_-18+1498insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTT		FBXO42	ENSG00000037637.11	transcript	ENST00000375592.8	protein_coding	1/9						chr1	TogoVar
FCGR1A_chr1_149777694_149796675	149785733	C C	CCAGGCGT others(32): Show CCAGGCGTAATGCCTTGAGCAGTAACGCCAGGCCAAGTAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	414	0.0024	39	c.307 others(56): Show c.307+1476_307+1477insCAGGCGTAATGCCTTGAGCAGTAACGCC AGGCCAAGTAG		FCGR1A	ENSG00000150337.14	transcript	ENST00000369168.5	protein_coding	3/5						chr1	TogoVar
FCN1_chr9_134898232_134922912	134905810	C C	CTCTTCTT others(32): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG02155.hp2 HG03654.hp1 others(4): Show HG00099.hp1 HG02155.hp2 HG03654.hp1 HG03654.hp2 NA19007.hp2 NA19012.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0046 a0001c0001t0190 a0001c0001t0231 others(3): Show a0001c0001t0046 a0001c0001t0190 a0001c0001t0231 a0001c0001t0240 a0001c0002t0164 a0001c0002t0165	a0001c0001t0046g0086 a0001c0001t0046g0138 a0001c0001t0190g0077 others(4): Show a0001c0001t0046g0086 a0001c0001t0046g0138 a0001c0001t0190g0077 a0001c0001t0231g0110 a0001c0001t0240g0118 a0001c0002t0164g0224 a0001c0002t0165g0151	7	434	0.0161	39	c.39 others(50): Show c.3987_*3988insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGA		FCN1	ENSG00000085265.12	transcript	ENST00000371806.4	protein_coding	9/9				3987		chr9	TogoVar
FCN1_chr9_134898232_134922912	134905822	T T	TTCTTCTT others(32): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19070.hp2 NA19079.hp2 NA19070.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0220 a0001c0001t0221 a0001c0001t0220 a0001c0001t0221	a0001c0001t0220g0130 a0001c0001t0221g0101 a0001c0001t0220g0130 a0001c0001t0221g0101	2	434	0.0046	39	c.39 others(50): Show c.3975_*3976insGGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGA		FCN1	ENSG00000085265.12	transcript	ENST00000371806.4	protein_coding	9/9				3975		chr9	TogoVar
FCN1_chr9_134898232_134922912	134905919	T T	TCTTCTCC others(32): Show TCTTCTCCTCCTTCTTCTTCTCCTTCTCCTTCTCCTTCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp1 HG02723.hp2 HG02572.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0070 a0001c0001t0065 a0001c0001t0070	a0001c0001t0065g0244 a0001c0001t0070g0267 a0001c0001t0065g0244 a0001c0001t0070g0267	2	434	0.0046	39	c.38 others(50): Show c.3878_*3879insGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGGAGG AGAAG		FCN1	ENSG00000085265.12	transcript	ENST00000371806.4	protein_coding	9/9				3878		chr9	TogoVar
FERMT2_chr14_52852273_52956050	52902868	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	288	0.0035	39	c.392 others(56): Show c.392-9442_392-9441insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT		FERMT2	ENSG00000073712.15	transcript	ENST00000341590.8	protein_coding	3/14						chr14	TogoVar
FER_chr5_108742897_109201841	108927252	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0047 a0001c0006t0047	a0001c0006t0047g0004 a0001c0006t0047g0004	1	138	0.0073	39	c.123 others(60): Show c.1237-18859_1237-18858insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT		FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
FER_chr5_108742897_109201841	109146253	A A	AATATATA others(32): Show AATATATATATATTATCTATCTATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03540.hp1 HG01884.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0046 a0001c0001t0005g0084 a0001c0001t0005g0046 a0001c0001t0005g0084	2	138	0.0145	39	c.204 others(60): Show c.2049-34482_2049-34481insTATCTATCTATATATATATATATA TATATATATATATAT		FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	17/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
FGD4_chr12_32394558_32651050	32599494	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0157 a0002c0005t0005g0157	1	232	0.0043	39	c.110 others(56): Show c.1101+922_1101+923insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA		FGD4	ENSG00000139132.16	transcript	ENST00000534526.7	protein_coding	5/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
FGD6_chr12_95071749_95222467	95149124	A A	ATTATATA others(32): Show ATTATATAATATATATAGCATATATTATATATTATATAAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01070.hp1 HG01071.hp2 others(7): Show HG00140.hp1 HG01070.hp1 HG01071.hp2 HG01346.hp1 HG01516.hp2 HG01517.hp2 HG02257.hp2 HG02258.hp2 HG02486.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0021 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0021 a0001c0001t0031	a0001c0001t0001g0113 a0001c0001t0007g0093 a0001c0001t0007g0097 others(7): Show a0001c0001t0001g0113 a0001c0001t0007g0093 a0001c0001t0007g0097 a0001c0001t0007g0099 a0001c0001t0007g0100 a0001c0001t0007g0101 a0001c0001t0007g0103 a0001c0001t0007g0183 a0001c0001t0021g0110 a0001c0001t0031g0286	10	384	0.0260	39	c.268 others(58): Show c.2685+3686_2685+3687insATTATATAATATATAATATATGCTAT ATATATTATATAA		FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	5/20						chr12	TogoVar
FGD6_chr12_95071749_95222467	95149205	T T	TATTATAT others(32): Show TATTATATAGCATATAGCATATATTATATATTATATAGCA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	384	0.0026	39	c.268 others(58): Show c.2685+3605_2685+3606insTGCTATATAATATATAATATATGCTA TATGCTATATAAT		FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	5/20						chr12	TogoVar
FGF11_chr17_7434512_7449937	7441765	T T	TCCACCTG others(32): Show TCCACCTGCAGGTCCACTTCGAACCTGCTCCCTCTCTGGG	disruptive_inframe_insertion others(1): Show disruptive_inframe_insertion splice_region_variant	MODERATE	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0026 a0002c0007t0001g0026	1	350	0.0029	39	c.305 others(48): Show c.305-1_305insGTCCACTTCGAACCTGCTCCCTCTCTGGGCCACCTG CAG	p.Thr others(51): Show p.Thr102delinsSerProLeuArgThrCysSerLeuSerGlyProPro AlaAla	FGF11	ENSG00000161958.11	transcript	ENST00000293829.9	protein_coding	3/5	414/2578	305/678	102/225		INFO_REALIGN_3_PRIME	chr17	TogoVar

Search by Variant

Search

Search Results (Total: 3425 hits)