Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
PXDN_chr2_1626887_1749515	1710825	T T	TCTCCACC others(8): Show TCTCCACCAGCACCCA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01516.hp1 HG01167.hp2 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0004 a0001c0001t0002 a0001c0004t0004	a0001c0001t0002g0031 a0001c0004t0004g0121 a0001c0001t0002g0031 a0001c0004t0004g0121	2	322	0.0062	15	c.201 others(34): Show c.201-17706_201-17692dupTGGGTGCTGGTGGAG		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
PXDN_chr2_1626887_1749515	1711173	T T	TCTCCACC others(8): Show TCTCCACCAGCACCCG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03486.hp1 HG02976.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0012 a0001c0003t0002 a0001c0003t0012	a0001c0003t0002g0124 a0001c0003t0012g0123 a0001c0003t0002g0124 a0001c0003t0012g0123	2	322	0.0062	15	c.201 others(34): Show c.201-18054_201-18040dupCGGGTGCTGGTGGAG		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
PXDN_chr2_1626887_1749515	1711457	T T	TCTCCACC others(8): Show TCTCCACCAGCACCCG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0027 a0001c0006t0027	a0001c0006t0027g0303 a0001c0006t0027g0303	1	322	0.0031	15	c.201 others(34): Show c.201-18338_201-18324dupCGGGTGCTGGTGGAG		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
PXDN_chr2_1626887_1749515	1711472	G G	GCTCCACC others(8): Show GCTCCACCAGCACCCA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02055.hp2 HG02109.hp1 others(11): Show HG01928.hp2 HG02055.hp2 HG02109.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02602.hp1 HG02622.hp2 HG02647.hp1 HG02809.hp2 HG02818.hp1 HG03453.hp2 HG04115.hp2 NA20129.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0008	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0014 a0001c0023 a0004c0040 a0005c0037 a0008c0025	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0003t0002 a0001c0004t0004 a0001c0006t0004 a0001c0014t0013 a0001c0023t0004 a0004c0040t0001 a0005c0037t0003 a0008c0025t0020	a0001c0001t0001g0138 a0001c0001t0001g0157 a0001c0001t0001g0167 others(11): Show a0001c0001t0001g0138 a0001c0001t0001g0157 a0001c0001t0001g0167 a0001c0001t0001g0242 a0001c0001t0002g0030 a0001c0002t0003g0168 a0001c0003t0002g0038 a0001c0004t0004g0244 a0001c0006t0004g0231 a0001c0014t0013g0247 a0001c0023t0004g0230 a0004c0040t0001g0262 a0005c0037t0003g0036 a0008c0025t0020g0171	14	322	0.0435	15	c.201 others(34): Show c.201-18339_201-18338insTGGGTGCTGGTGGAG		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
PXDN_chr2_1626887_1749515	1711534	A A	ACTCTACC others(8): Show ACTCTACCAGCACCCG	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA21309.hp2 HG03139.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0021 a0001c0013t0001 a0001c0001t0021 a0001c0013t0001	a0001c0001t0021g0159 a0001c0013t0001g0162 a0001c0001t0021g0159 a0001c0013t0001g0162	2	322	0.0062	15	c.201 others(34): Show c.201-18401_201-18400insCGGGTGCTGGTAGAG		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
PXDN_chr2_1626887_1749515	1711568	T T	TCTCCACC others(8): Show TCTCCACCAGCACCCA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0270 a0001c0001t0002g0270	1	322	0.0031	15	c.201 others(34): Show c.201-18449_201-18435dupTGGGTGCTGGTGGAG		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
PXK_chr3_58327892_58431127	58336072	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02486.hp2 NA18939.hp1 HG01934.hp1 HG02486.hp2 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0028 a0001c0001t0001g0169 a0001c0001t0007g0043 a0001c0001t0001g0028 a0001c0001t0001g0169 a0001c0001t0007g0043	3	300	0.0100	15	c.102 others(32): Show c.102+2982_102+2983insATATATATATATATA		PXK	ENSG00000168297.16	transcript	ENST00000356151.7	protein_coding	1/17						chr3	TogoVar
PXK_chr3_58327892_58431127	58378512	T T	TTTGTGTG others(8): Show TTTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	300	0.0033	15	c.202 others(32): Show c.202-4001_202-4000insTGTGTGTGTGTGTGT		PXK	ENSG00000168297.16	transcript	ENST00000356151.7	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
PXK_chr3_58327892_58431127	58378512	T T	TTTTTGTG others(8): Show TTTTTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	300	0.0033	15	c.202 others(32): Show c.202-4001_202-4000insTTTGTGTGTGTGTGT		PXK	ENSG00000168297.16	transcript	ENST00000356151.7	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
PXK_chr3_58327892_58431127	58378512	T T	TTTTTTTG others(8): Show TTTTTTTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00735.hp1 others(14): Show HG00438.hp1 HG00438.hp2 HG00735.hp1 HG01123.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01884.hp1 HG02083.hp2 HG02523.hp2 HG03834.hp2 HG03927.hp1 NA18747.hp2 NA18951.hp2 NA18956.hp1 NA19065.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0162 a0001c0001t0001g0163 others(13): Show a0001c0001t0001g0003 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0174 a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0231	17	300	0.0567	15	c.202 others(32): Show c.202-4001_202-4000insTTTTTGTGTGTGTGT		PXK	ENSG00000168297.16	transcript	ENST00000356151.7	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
PXK_chr3_58327892_58431127	58378512	T T	TTTTTTTT others(8): Show TTTTTTTTTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	300	0.0033	15	c.202 others(32): Show c.202-4001_202-4000insTTTTTTTGTGTGTGT		PXK	ENSG00000168297.16	transcript	ENST00000356151.7	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
PXMP2_chr12_132682587_132709985	132687721	G G	GCCGCGGC others(8): Show GCCGCGGCGGGCGCTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0051 a0002c0006t0002g0051	1	350	0.0029	15	c.52_ others(20): Show c.52_66dupCCGCGGCGGGCGCTC	p.Pro others(11): Show p.Pro18_Leu22dup	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	1/5	151/970	67/588	23/195		INFO_REALIGN_3_PRIME	chr12	TogoVar
PXMP4_chr20_33697758_33725310	33717639	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0126 a0001c0001t0007g0126	1	388	0.0026	15	c.113 others(32): Show c.113+2441_113+2455dupTTTTTTTTTTTTTTT		PXMP4	ENSG00000101417.12	transcript	ENST00000409299.8	protein_coding	1/3						chr20	TogoVar
PXT1_chr6_36385551_36447854	36425800	C C	CAAAAACA others(8): Show CAAAAACAAACAAACA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	390	0.0026	15	c.169 others(30): Show c.169+113_169+114insTGTTTGTTTGTTTTT		PXT1	ENSG00000179165.12	transcript	ENST00000454782.3	protein_coding	3/4						chr6	TogoVar
PXT1_chr6_36385551_36447854	36428416	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00735.hp2 HG01123.hp2 others(13): Show HG00673.hp2 HG00735.hp2 HG01123.hp2 HG01175.hp2 HG01243.hp2 HG01517.hp1 HG01952.hp2 HG02145.hp2 HG02257.hp1 HG02622.hp2 HG02809.hp1 HG02896.hp2 HG03209.hp2 NA18947.hp1 NA18974.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 others(13): Show a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0112 a0001c0001t0001g0140 a0001c0001t0001g0148 a0001c0001t0001g0197 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0346 a0001c0001t0002g0324 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0005g0132 a0001c0001t0006g0017	16	390	0.0410	15	c.-9- others(30): Show c.-9-2326_-9-2325insTTTTTTTTTTTTTTT		PXT1	ENSG00000179165.12	transcript	ENST00000454782.3	protein_coding	2/4						chr6	TogoVar
PYDC2_chr3_191456163_191466456	191463000	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG03209.hp2 NA19082.hp2 others(1): Show HG02735.hp2 HG03209.hp2 NA19082.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	434	0.0092	15	c.15 others(26): Show c.1544_*1545insTTCTTTCTTTCTTTC		PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding					1545		chr3	TogoVar
PYDC2_chr3_191456163_191466456	191463020	C C	CTCTCTCT others(8): Show CTCTCTCTTCTCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	434	0.0023	15	c.15 others(26): Show c.1564_*1565insTCTCTCTTCTCTCTT		PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding					1565		chr3	TogoVar
PYDC2_chr3_191456163_191466456	191463063	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	434	0.0023	15	c.16 others(26): Show c.1607_*1608insTTCTTTCTTTCTTTC		PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding					1608		chr3	TogoVar
PYGB_chr20_25243085_25303012	25253623	T T	TAAATAAA others(8): Show TAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01943.hp1 HG02056.hp2 others(15): Show HG01081.hp2 HG01943.hp1 HG02056.hp2 HG02559.hp2 HG02809.hp1 HG02976.hp1 HG03017.hp2 HG03139.hp2 HG03209.hp1 HG03688.hp2 HG04199.hp2 NA18906.hp1 NA18983.hp1 NA18999.hp2 NA19000.hp2 NA19063.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0021 a0003c0005	a0001c0001t0001 a0001c0002t0002 a0001c0004t0002 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0004t0002 a0001c0007t0004 a0001c0021t0004 a0003c0005t0001	a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 others(15): Show a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0188 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0002t0002g0077 a0001c0002t0002g0248 a0001c0004t0002g0257 a0001c0007t0004g0256 a0001c0021t0004g0258 a0003c0005t0001g0130	18	372	0.0484	15	c.243 others(32): Show c.243+5224_243+5238dupAATAAAATAAAATAA		PYGB	ENSG00000100994.12	transcript	ENST00000216962.9	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr20	TogoVar
PYGL_chr14_50900217_50949483	50942822	C C	CAAACAAA others(8): Show CAAACAAAACAAAACA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG03669.hp1 NA19079.hp1 HG02300.hp2 HG03669.hp1 NA19079.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0202 a0001c0005t0002g0203 a0001c0005t0002g0204 a0001c0005t0002g0202 a0001c0005t0002g0203 a0001c0005t0002g0204	3	390	0.0077	15	c.243 others(32): Show c.243+1324_243+1338dupTGTTTTGTTTTGTTT		PYGL	ENSG00000100504.17	transcript	ENST00000216392.8	protein_coding	1/19						chr14	TogoVar
PYGO1_chr15_55533884_55593345	55576760	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18978.hp2 HG00609.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0053 a0001c0001t0001 a0001c0001t0053	a0001c0001t0001g0296 a0001c0001t0053g0297 a0001c0001t0001g0296 a0001c0001t0053g0297	2	412	0.0049	15	c.49+ others(32): Show c.49+11074_49+11075insTTTTTTTTTTTTTTT		PYGO1	ENSG00000171016.13	transcript	ENST00000563719.4	protein_coding	1/2						chr15	TogoVar
PYHIN1_chr1_158926552_158982059	158942797	G G	GTTCTTTG others(8): Show GTTCTTTGAGGCTTGA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0002 a0006c0007t0002	a0006c0007t0002g0128 a0006c0007t0002g0128	1	398	0.0025	15	c.100 others(32): Show c.1002+399_1002+413dupTTCTTTGAGGCTTGA		PYHIN1	ENSG00000163564.15	transcript	ENST00000368140.6	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
PYURF_chr4_88515998_88528776	88516483	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	446	0.0022	15	c.54 others(26): Show c.5404_*5405insTTTTTTTTTTTTTTT		PYURF	ENSG00000145337.5	transcript	ENST00000273968.5	protein_coding					4514		chr4	TogoVar
PYY_chr17_43947733_43958940	43958135	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00733.hp2 others(43): Show HG00099.hp2 HG00438.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01081.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01496.hp1 HG01516.hp1 HG01891.hp2 HG01934.hp1 HG01975.hp1 HG02004.hp1 HG02273.hp2 HG02451.hp1 HG02615.hp1 HG02622.hp1 HG02809.hp1 HG03130.hp1 HG03239.hp1 HG03491.hp1 HG03516.hp2 HG03834.hp1 HG03834.hp2 HG04199.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18944.hp2 NA18959.hp1 NA18968.hp1 NA18969.hp1 NA18981.hp2 NA18986.hp1 NA18992.hp1 NA19007.hp1 NA19056.hp2 NA19066.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0006 a0002c0002t0001g0001 a0001c0001t0001g0006 a0002c0002t0001g0001	46	364	0.1264	15	c.-43 others(26): Show c.-4301_-4287dupTTTTTTTTTTTTTTT		PYY	ENSG00000131096.11	transcript	ENST00000692052.1	protein_coding					4196		chr17	TogoVar
PZP_chr12_9143840_9213395	9185790	A A	ATTTCTTT others(8): Show ATTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02717.hp1 HG02886.hp1 others(9): Show HG01433.hp2 HG02717.hp1 HG02886.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG04184.hp1 HG04184.hp2 NA18947.hp2 NA18969.hp2 NA18984.hp2	a0001 a0002 a0006 others(4): Show a0001 a0002 a0006 a0010 a0014 a0015 a0017	a0001c0001 a0002c0002 a0006c0007 others(4): Show a0001c0001 a0002c0002 a0006c0007 a0010c0009 a0014c0016 a0015c0018 a0017c0015	a0001c0001t0001 a0002c0002t0001 a0006c0007t0001 others(4): Show a0001c0001t0001 a0002c0002t0001 a0006c0007t0001 a0010c0009t0001 a0014c0016t0001 a0015c0018t0001 a0017c0015t0001	a0001c0001t0001g0074 a0002c0002t0001g0117 a0002c0002t0001g0130 others(9): Show a0001c0001t0001g0074 a0002c0002t0001g0117 a0002c0002t0001g0130 a0002c0002t0001g0135 a0002c0002t0001g0144 a0002c0002t0001g0152 a0002c0002t0001g0163 a0006c0007t0001g0256 a0010c0009t0001g0101 a0014c0016t0001g0153 a0015c0018t0001g0120 a0017c0015t0001g0129	12	334	0.0359	15	c.154 others(34): Show c.1547-3688_1547-3674dupAGAAAAGAAAAGAAA		PZP	ENSG00000126838.10	transcript	ENST00000261336.7	protein_coding	13/35						chr12	TogoVar
QARS1_chr3_49090932_49109757	49096798	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG02559.hp2 others(2): Show HG00280.hp1 HG00323.hp2 HG02559.hp2 NA18942.hp2 NA19003.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0011 a0001c0001 a0001c0002 a0003c0011	a0001c0001t0001 a0001c0002t0001 a0003c0011t0001 a0001c0001t0001 a0001c0002t0001 a0003c0011t0001	a0001c0001t0001g0050 a0001c0001t0001g0067 a0001c0001t0001g0077 others(2): Show a0001c0001t0001g0050 a0001c0001t0001g0067 a0001c0001t0001g0077 a0001c0002t0001g0100 a0003c0011t0001g0081	5	284	0.0176	15	c.227 others(32): Show c.2278-734_2278-720dupTTTTTTTTTTTTTTT		QARS1	ENSG00000172053.18	transcript	ENST00000306125.12	protein_coding	23/23						chr3	TogoVar
QKI_chr6_163409718_163583592	163572670	A A	ACCCCCCC others(8): Show ACCCCCCCCCCCCCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0096 a0001c0001t0064g0096	1	302	0.0033	15	c.19 others(26): Show c.1971_*1972insCCCCCCCCCCCCCCC		QKI	ENSG00000112531.17	transcript	ENST00000361752.8	protein_coding	8/8				1972	INFO_REALIGN_3_PRIME	chr6	TogoVar
QPCT_chr2_37339630_37378322	37347164	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0127 a0001c0003t0005g0127	1	442	0.0023	15	c.120 others(32): Show c.120+2313_120+2314insTATATATATATATAT		QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6						chr2	TogoVar
QPCT_chr2_37339630_37378322	37358438	C C	CAACAAAA others(8): Show CAACAAAACAAAACAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01106.hp1 HG01243.hp1 others(41): Show HG00738.hp2 HG01106.hp1 HG01243.hp1 HG01361.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02109.hp1 HG02145.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA19030.hp2 NA19240.hp2 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0004c0005 a0001c0003 a0004c0005	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(1): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0004c0005t0001	a0001c0003t0001g0027 a0001c0003t0001g0132 a0001c0003t0001g0140 others(40): Show a0001c0003t0001g0027 a0001c0003t0001g0132 a0001c0003t0001g0140 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0001g0147 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0157 a0001c0003t0001g0158 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0161 a0001c0003t0001g0162 a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0003t0001g0167 a0001c0003t0001g0236 a0001c0003t0001g0359 a0001c0003t0001g0360 a0001c0003t0001g0363 a0001c0003t0001g0366 a0001c0003t0002g0232 a0001c0003t0002g0233 a0001c0003t0002g0234 a0001c0003t0002g0235 a0001c0003t0003g0231 a0001c0003t0003g0361 a0001c0003t0003g0362 a0001c0003t0003g0364 a0001c0003t0003g0365 a0004c0005t0001g0130 a0004c0005t0001g0131 a0004c0005t0001g0138 a0004c0005t0001g0141	44	442	0.0996	15	c.268 others(32): Show c.268-1130_268-1116dupACAAAACAAAACAAA		QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
QRFPR_chr4_121323642_121386018	121380186	G G	GAGAGAGA others(8): Show GAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0153 a0002c0002t0001g0153	1	384	0.0026	15	c.340 others(30): Show c.340+121_340+122insTCTCTCTCTCTCTCT		QRFPR	ENSG00000186867.11	transcript	ENST00000394427.3	protein_coding	1/5						chr4	TogoVar
QRFPR_chr4_121323642_121386018	121380186	G G	GGAGAGAG others(8): Show GGAGAGAGAGGAGAGA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0306 a0001c0001t0002g0306	1	384	0.0026	15	c.340 others(30): Show c.340+121_340+122insTCTCTCCTCTCTCTC		QRFPR	ENSG00000186867.11	transcript	ENST00000394427.3	protein_coding	1/5						chr4	TogoVar
QRICH1_chr3_49024707_49099071	49034079	T T	TTTATTAT others(8): Show TTTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp1 HG02451.hp1 others(1): Show HG01884.hp2 HG02257.hp1 HG02451.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0033 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034	4	226	0.0177	15	c.178 others(32): Show c.1787-866_1787-852dupTAATAATAATAATAA		QRICH1	ENSG00000198218.12	transcript	ENST00000395443.7	protein_coding	6/9						chr3	TogoVar
QRICH1_chr3_49024707_49099071	49050248	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02965.hp2 HG02970.hp1 others(2): Show HG02109.hp1 HG02965.hp2 HG02970.hp1 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0155 a0001c0001t0001g0156 others(2): Show a0001c0001t0001g0106 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158	5	226	0.0221	15	c.133 others(34): Show c.1339-3017_1339-3003dupTTTTTTTTTTTTTTT		QRICH1	ENSG00000198218.12	transcript	ENST00000395443.7	protein_coding	3/9						chr3	TogoVar
QRICH1_chr3_49024707_49099071	49087818	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp2 HG02074.hp2 others(4): Show HG01981.hp1 HG01981.hp2 HG02074.hp2 HG02109.hp1 HG02970.hp1 NA18998.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0091 a0001c0001t0001g0148 a0001c0001t0001g0157 others(4): Show a0001c0001t0001g0091 a0001c0001t0001g0148 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0002g0164	7	226	0.0310	15	c.-22 others(32): Show c.-22+6079_-22+6093dupTTTTTTTTTTTTTTT		QRICH1	ENSG00000198218.12	transcript	ENST00000395443.7	protein_coding	1/9						chr3	TogoVar
QRICH1_chr3_49024707_49099071	49096798	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01168.hp2 HG02559.hp1 HG00280.hp2 HG01168.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0204 a0001c0001t0001g0213 a0001c0001t0001g0110 a0001c0001t0001g0204 a0001c0001t0001g0213	3	226	0.0133	15	c.-29 others(26): Show c.-2923_-2909dupTTTTTTTTTTTTTTT		QRICH1	ENSG00000198218.12	transcript	ENST00000395443.7	protein_coding					2728		chr3	TogoVar
QRICH2_chr17_76269049_76313276	76284168	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02895.hp2 HG03098.hp1 others(2): Show HG01175.hp1 HG02895.hp2 HG03098.hp1 HG03540.hp2 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0168 a0003c0003t0001g0176 a0003c0003t0001g0177 others(2): Show a0003c0003t0001g0168 a0003c0003t0001g0176 a0003c0003t0001g0177 a0003c0003t0001g0178 a0003c0003t0001g0205	5	364	0.0137	15	c.401 others(34): Show c.4012-2068_4012-2054dupTTTTTTTTTTTTTTT		QRICH2	ENSG00000129646.16	transcript	ENST00000680821.2	protein_coding	7/18						chr17	TogoVar
QRICH2_chr17_76269049_76313276	76285125	C C	CTGTTGTT others(8): Show CTGTTGTTGTTGTTGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA19240.hp2 NA20300.hp2 HG02818.hp2 NA19240.hp2 NA20300.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0226 a0007c0010t0001g0228 a0007c0010t0001g0230 a0007c0010t0001g0226 a0007c0010t0001g0228 a0007c0010t0001g0230	3	364	0.0082	15	c.401 others(34): Show c.4011+2052_4011+2066dupACAACAACAACAACA		QRICH2	ENSG00000129646.16	transcript	ENST00000680821.2	protein_coding	7/18						chr17	TogoVar
QRICH2_chr17_76269049_76313276	76297880	T T	TTTTTTTT others(8): Show TTTTTTTTGTTTTTTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	364	0.0028	15	c.706 others(32): Show c.706-3860_706-3859insCAAAAAACAAAAAAA		QRICH2	ENSG00000129646.16	transcript	ENST00000680821.2	protein_coding	3/18						chr17	TogoVar
QSER1_chr11_32887811_32985270	32892843	G G	GGCCGCCG others(8): Show GGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0074 a0001c0001t0017g0074	1	236	0.0042	15	c.-27 others(24): Show c.-278_-264dupCCGCCGCCGCCGCCG		QSER1	ENSG00000060749.17	transcript	ENST00000650167.2	protein_coding	1/13				263	INFO_REALIGN_3_PRIME	chr11	TogoVar
QSER1_chr11_32887811_32985270	32965944	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	236	0.0042	15	c.497 others(32): Show c.4970-356_4970-355insCACACACACACACAC		QSER1	ENSG00000060749.17	transcript	ENST00000650167.2	protein_coding	8/12						chr11	TogoVar
R3HDM1_chr2_135526484_135730269	135537608	C C	CTTATTTT others(8): Show CTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	232	0.0043	15	c.-25 others(34): Show c.-250+6029_-250+6043dupTTTTATTTTATTTTA		R3HDM1	ENSG00000048991.18	transcript	ENST00000683871.1	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr2	TogoVar
R3HDM1_chr2_135526484_135730269	135699075	T T	TAGATAGA others(8): Show TAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0010 a0005c0006t0001g0010	1	232	0.0043	15	c.246 others(36): Show c.2460-10358_2460-10357insAGATAGATAGATAGA		R3HDM1	ENSG00000048991.18	transcript	ENST00000683871.1	protein_coding	21/26						chr2	TogoVar
R3HDM2_chr12_57248764_57436043	57249905	A A	ACTACCTG others(8): Show ACTACCTGGCTACTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0008 a0001c0005t0004 a0001c0005t0008	a0001c0005t0004g0144 a0001c0005t0008g0146 a0001c0005t0004g0144 a0001c0005t0008g0146	2	336	0.0060	15	c.48 others(26): Show c.4853_*4867dupAAAGTAGCCAGGTAG		R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding					3858		chr12	TogoVar
R3HDM2_chr12_57248764_57436043	57320261	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01361.hp2 HG01928.hp1 others(22): Show HG00738.hp1 HG01361.hp2 HG01928.hp1 HG01978.hp2 HG01981.hp2 HG02074.hp1 HG02080.hp1 HG02148.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03491.hp1 HG03654.hp2 HG03688.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp2 NA18747.hp1 NA18941.hp1 NA18943.hp2 NA18947.hp1 NA18966.hp2 NA19057.hp1 NA19062.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0018 a0001c0001 a0001c0002 a0001c0018	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0018t0001	a0001c0001t0001g0199 a0001c0001t0001g0283 a0001c0001t0001g0303 others(22): Show a0001c0001t0001g0199 a0001c0001t0001g0283 a0001c0001t0001g0303 a0001c0002t0001g0008 a0001c0002t0001g0036 a0001c0002t0001g0059 a0001c0002t0001g0070 a0001c0002t0001g0121 a0001c0002t0002g0004 a0001c0002t0002g0015 a0001c0002t0002g0035 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0056 a0001c0002t0002g0060 a0001c0002t0002g0080 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0106 a0001c0002t0002g0112 a0001c0002t0002g0115 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0122 a0001c0018t0001g0284	25	336	0.0744	15	c.-35 others(32): Show c.-35-9813_-35-9799dupTTTTTTTTTTTTTTT		R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	2/23						chr12	TogoVar
R3HDM2_chr12_57248764_57436043	57371083	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	336	0.0030	15	c.-36 others(34): Show c.-36+24651_-36+24665dupAAAAAAAAAAAAAAA		R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	2/23						chr12	TogoVar
R3HDM4_chr19_891503_918219	892938	G G	GCCCCGCG others(8): Show GCCCCGCGCCCCGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	432	0.0023	15	c.44 others(26): Show c.4498_*4499insGCGCGGGGCGCGGGG		R3HDM4	ENSG00000198858.10	transcript	ENST00000361574.10	protein_coding					3564		chr19	TogoVar
R3HDM4_chr19_891503_918219	906809	T T	TTTTTGTT others(8): Show TTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG00558.hp2 others(54): Show HG00280.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01175.hp1 HG01361.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02683.hp2 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG03139.hp2 HG03225.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18941.hp2 NA18951.hp1 NA18954.hp2 NA18960.hp1 NA18962.hp1 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18979.hp1 NA18983.hp1 NA18988.hp1 NA19003.hp1 NA19005.hp1 NA19066.hp2 NA19074.hp1 NA19091.hp1 NA19091.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003	a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0040 others(49): Show a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0229 a0001c0001t0001g0249 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0042 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0067 a0001c0001t0002g0250 a0001c0001t0002g0274 a0001c0001t0002g0335 a0001c0001t0002g0350 a0001c0001t0002g0367 a0001c0001t0003g0006 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0141 a0001c0001t0003g0323 a0001c0001t0004g0051 a0001c0001t0004g0063 a0001c0001t0004g0302 a0001c0001t0005g0053 a0001c0001t0006g0171 a0001c0001t0013g0064 a0002c0002t0001g0046 a0002c0002t0001g0054 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0357 a0002c0002t0002g0023 a0002c0002t0002g0029 a0002c0002t0003g0044 a0002c0002t0003g0045	57	432	0.1319	15	c.72- others(30): Show c.72-4694_72-4680dupCAAAACAAAACAAAA		R3HDM4	ENSG00000198858.10	transcript	ENST00000361574.10	protein_coding	1/7						chr19	TogoVar
R3HDML_chr20_44332043_44356238	44348482	C C	CTCCTTTC others(8): Show CTCCTTTCCTTTCCTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02293.hp1 HG02683.hp2 others(8): Show HG02080.hp2 HG02293.hp1 HG02683.hp2 HG02698.hp1 NA18522.hp2 NA18945.hp1 NA18963.hp1 NA18982.hp2 NA18983.hp2 NA19063.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0001t0001 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0015 a0001c0001t0001g0043 a0001c0001t0001g0085 others(4): Show a0001c0001t0001g0015 a0001c0001t0001g0043 a0001c0001t0001g0085 a0001c0001t0001g0093 a0001c0001t0001g0101 a0001c0002t0001g0158 a0001c0004t0001g0199	11	434	0.0254	15	c.630 others(32): Show c.630-2155_630-2141dupCTTTCCTTTCCTTTC		R3HDML	ENSG00000101074.5	transcript	ENST00000217043.4	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr20	TogoVar
R3HDML_chr20_44332043_44356238	44349146	T T	TAAATAAA others(8): Show TAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02976.hp1 HG03098.hp1 others(1): Show HG02572.hp2 HG02976.hp1 HG03098.hp1 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0002c0005 a0001c0004 a0002c0003 a0002c0005	a0001c0004t0001 a0002c0003t0002 a0002c0005t0002 a0001c0004t0001 a0002c0003t0002 a0002c0005t0002	a0001c0004t0001g0203 a0002c0003t0002g0186 a0002c0005t0002g0177 others(1): Show a0001c0004t0001g0203 a0002c0003t0002g0186 a0002c0005t0002g0177 a0002c0005t0002g0183	4	434	0.0092	15	c.630 others(32): Show c.630-1485_630-1471dupTAAAATAAAATAAAA		R3HDML	ENSG00000101074.5	transcript	ENST00000217043.4	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB10_chr2_26029084_26142454	26114737	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03041.hp1 HG03130.hp2 others(2): Show HG02055.hp2 HG03041.hp1 HG03130.hp2 HG03225.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0005 a0001c0001t0004g0009 others(2): Show a0001c0001t0004g0001 a0001c0001t0004g0005 a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0011	5	212	0.0236	15	c.327 others(32): Show c.327+4835_327+4849dupAAAAAAAAAAAAAAA		RAB10	ENSG00000084733.11	transcript	ENST00000264710.5	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr2	TogoVar

Search by Variant

Search

Search Results