Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

Show

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
P3H2_chr3_189951728_190125897	190007959	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01515.hp2 HG03041.hp2 others(2): Show HG00673.hp1 HG01515.hp2 HG03041.hp2 NA18978.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0010 a0001c0002t0002 a0001c0003t0001 others(1): Show a0001c0001t0010 a0001c0002t0002 a0001c0003t0001 a0001c0003t0004	a0001c0001t0010g0285 a0001c0002t0002g0037 a0001c0003t0001g0040 others(2): Show a0001c0001t0010g0285 a0001c0002t0002g0037 a0001c0003t0001g0040 a0001c0003t0001g0167 a0001c0003t0004g0123	5	304	0.0165	20	c.481 others(39): Show c.481-12518_481-12517insGTGTGTGTGTGTGTGTGTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(13): Show CACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02015.hp2 HG02080.hp2 others(23): Show HG00609.hp2 HG02015.hp2 HG02080.hp2 HG02135.hp2 HG02165.hp2 HG02293.hp2 HG02300.hp1 HG03017.hp1 HG03239.hp2 HG03688.hp1 HG04115.hp2 NA18946.hp1 NA18951.hp1 NA18962.hp2 NA18974.hp2 NA18990.hp1 NA18995.hp1 NA19000.hp1 NA19003.hp1 NA19006.hp2 NA19054.hp1 NA19062.hp1 NA19064.hp1 NA19079.hp1 NA19082.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0004c0014	a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 a0001c0003t0001 a0001c0003t0007 a0001c0003t0021 a0001c0005t0001 a0004c0014t0003	a0001c0001t0001g0134 a0001c0001t0012g0298 a0001c0002t0001g0050 others(23): Show a0001c0001t0001g0134 a0001c0001t0012g0298 a0001c0002t0001g0050 a0001c0003t0001g0019 a0001c0003t0001g0030 a0001c0003t0001g0041 a0001c0003t0001g0058 a0001c0003t0001g0063 a0001c0003t0001g0128 a0001c0003t0001g0129 a0001c0003t0001g0150 a0001c0003t0001g0166 a0001c0003t0001g0169 a0001c0003t0001g0195 a0001c0003t0001g0200 a0001c0003t0001g0211 a0001c0003t0001g0213 a0001c0003t0001g0232 a0001c0003t0001g0234 a0001c0003t0001g0262 a0001c0003t0001g0273 a0001c0003t0001g0286 a0001c0003t0007g0190 a0001c0003t0021g0196 a0001c0005t0001g0001 a0004c0014t0003g0133	26	304	0.0855	20	c.481 others(39): Show c.481-12524_481-12523insATGTGTGTGTGTGTGTGTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(13): Show CACACACACACACACACATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18978.hp2 HG00558.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0219 a0001c0002t0006g0131 a0001c0001t0001g0219 a0001c0002t0006g0131	2	304	0.0066	20	c.481 others(39): Show c.481-12524_481-12523insATATGTGTGTGTGTGTGTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(13): Show CACACACACACATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA20300.hp1 HG03041.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0045 a0001c0001t0005g0094 a0001c0001t0005g0045 a0001c0001t0005g0094	2	304	0.0066	20	c.481 others(39): Show c.481-12524_481-12523insATATATATATGTGTGTGTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(13): Show CACACACACATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01978.hp2 HG02132.hp1 others(7): Show HG00544.hp1 HG01978.hp2 HG02132.hp1 HG02280.hp1 NA18945.hp2 NA18982.hp1 NA19004.hp2 NA19088.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0011 a0001c0001 a0009c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0009c0011t0006	a0001c0001t0001g0140 a0001c0001t0001g0178 a0001c0001t0001g0197 others(7): Show a0001c0001t0001g0140 a0001c0001t0001g0178 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0212 a0001c0001t0001g0271 a0001c0001t0003g0221 a0001c0001t0003g0279 a0001c0001t0006g0293 a0009c0011t0006g0204	10	304	0.0329	20	c.481 others(39): Show c.481-12524_481-12523insATATATATATATGTGTGTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(13): Show CACACACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	304	0.0033	20	c.481 others(39): Show c.481-12524_481-12523insATATATATATATATGTGTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190041020	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18747.hp1 NA18982.hp2 others(2): Show HG03098.hp2 NA18747.hp1 NA18982.hp2 NA19002.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0004 a0001c0001t0005 a0001c0002t0002 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0002t0002 a0001c0006t0001	a0001c0001t0004g0064 a0001c0001t0005g0287 a0001c0002t0002g0259 others(2): Show a0001c0001t0004g0064 a0001c0001t0005g0287 a0001c0002t0002g0259 a0001c0002t0002g0272 a0001c0006t0001g0002	5	304	0.0165	20	c.481 others(39): Show c.481-45579_481-45578insTATATATATATATATATATA	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190066158	T T	TATATATA others(13): Show TATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0297 a0001c0001t0005g0297	1	304	0.0033	20	c.480 others(39): Show c.480+54093_480+54094insGTGTGTGTGTGTGTATATAT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190066158	T T	TATATATA others(13): Show TATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	1	304	0.0033	20	c.480 others(39): Show c.480+54093_480+54094insGTGTGTGTGTGTATATATAT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190066158	T T	TATATATA others(13): Show TATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0031 a0001c0001t0001g0032	2	304	0.0066	20	c.480 others(39): Show c.480+54093_480+54094insGTGTGTATATATATATATAT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H4_chr17_41796953_41816949	41805290	A A	AAAACAAA others(13): Show AAAACAAACAAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03831.hp1 NA18973.hp2 HG00741.hp2 HG03831.hp1 NA18973.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0108 a0002c0002t0001g0111 a0002c0002t0002g0107 a0002c0002t0001g0108 a0002c0002t0001g0111 a0002c0002t0002g0107	3	404	0.0074	20	c.114 others(39): Show c.1146+1505_1146+1506insGTTTGTTTGTTTGTTTGTTT	P3H4	ENSG00000141696.13	transcript	ENST00000393928.6	protein_coding	6/7			chr17	TogoVar
P3R3URF_chr1_46170486_46181488	46179964	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02622.hp2 HG02647.hp2 HG01891.hp2 HG02622.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0003 a0001c0001t0001g0010	3	422	0.0071	20	c.-35 others(31): Show c.-3513_-3494dupACACACACACACACACACAC	P3R3URF	ENSG00000250719.2	transcript	ENST00000506599.2	protein_coding		3477		chr1	TogoVar
PA2G4_chr12_56099559_56118910	56116166	A A	AAAGAAAA others(13): Show AAAGAAAAGAAAGAAAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	352	0.0028	20	c.32 others(31): Show c.3278_*3279insAAGAAAAGAAAGAAAGAGAG	PA2G4	ENSG00000170515.14	transcript	ENST00000303305.11	protein_coding		2257		chr12	TogoVar
PAAF1_chr11_73871999_73936114	73908295	G G	GTGTGTAT others(13): Show GTGTGTATATATGTATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp1 HG02922.hp1 others(6): Show HG02258.hp1 HG02486.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03139.hp1 HG03195.hp2 HG03471.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0043 a0002c0002t0002g0050 others(4): Show a0002c0002t0002g0003 a0002c0002t0002g0043 a0002c0002t0002g0050 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0070	9	370	0.0243	20	c.533 others(37): Show c.533-1070_533-1051dupATATATATGTGTATATATGT	PAAF1	ENSG00000175575.13	transcript	ENST00000310571.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PAAF1_chr11_73871999_73936114	73908295	G G	GTGTGTGT others(13): Show GTGTGTGTATATGTATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02970.hp1 HG03098.hp1 HG01884.hp2 HG02970.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0011 a0001c0001t0014g0085 a0001c0001t0014g0011 a0001c0001t0014g0085	3	370	0.0081	20	c.533 others(37): Show c.533-1099_533-1098insGTATATGTATATATATGTGT	PAAF1	ENSG00000175575.13	transcript	ENST00000310571.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PABIR1_chr9_68775065_68790566	68788474	T T	TTTTTGTT others(13): Show TTTTTGTTTTGTTTTGTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01261.hp1 HG01496.hp1 others(13): Show HG00639.hp1 HG01261.hp1 HG01496.hp1 HG01928.hp2 HG02129.hp1 HG02273.hp2 HG02559.hp1 HG02698.hp1 HG02896.hp1 HG02897.hp1 HG03130.hp1 HG03225.hp2 HG03710.hp2 HG04115.hp2 HG04199.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0015 a0001c0001t0032	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(3): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0011g0000 a0001c0001t0015g0000 a0001c0001t0032g0000	16	436	0.0367	20	c.74 others(31): Show c.7446_*7447insTTTTGTTTTGTTTTGTTTTG	PABIR1	ENSG00000187866.10	transcript	ENST00000394264.7	protein_coding		2909		chr9	TogoVar
PABIR2_chrX_134764566_134802205	134788119	A A	ATATACAC others(13): Show ATATACACGTTATATATGTGT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	217	0.0046	20	c.435 others(35): Show c.435+591_436-587dupACACATATATAACGTGTATA	PABIR2	ENSG00000156504.17	transcript	ENST00000343004.10	protein_coding	6/9			chrX	TogoVar
PABIR2_chrX_134764566_134802205	134788470	T T	TATATATA others(13): Show TATATATACGTTATATATGTA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01261.hp1 HG02280.hp2 others(16): Show HG01243.hp1 HG01261.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp1 HG02615.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp1 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0028 others(13): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0139 a0001c0001t0008g0023	19	217	0.0876	20	c.435 others(35): Show c.435+240_435+259dupTACATATATAACGTATATAT	PABIR2	ENSG00000156504.17	transcript	ENST00000343004.10	protein_coding	6/9			chrX	TogoVar
PABPC1L_chr20_44905060_44944316	44931061	T T	TTCCCTCC others(13): Show TTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02615.hp1 HG03704.hp2 others(5): Show HG02071.hp2 HG02615.hp1 HG03704.hp2 NA18946.hp2 NA18961.hp1 NA18963.hp1 NA18995.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0041 a0001c0001t0001g0223 a0001c0001t0001g0287 others(5): Show a0001c0001t0001g0041 a0001c0001t0001g0223 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0304 a0001c0001t0002g0230 a0001c0001t0002g0303 a0001c0001t0008g0041	8	396	0.0202	20	c.123 others(37): Show c.1239+345_1239+364dupCCCTCCCTCCCTCCCTCCCT	PABPC1L	ENSG00000101104.13	transcript	ENST00000217073.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
PABPC1L_chr20_44905060_44944316	44931087	C C	CCCTCCCT others(13): Show CCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	396	0.0025	20	c.123 others(37): Show c.1239+364_1239+365insCCCTCCCTCCCTCCCTTCCT	PABPC1L	ENSG00000101104.13	transcript	ENST00000217073.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
PABPC1L_chr20_44905060_44944316	44931087	C C	CCCTCCCT others(13): Show CCCTCCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG01255.hp2 others(33): Show HG00099.hp2 HG00438.hp1 HG01255.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02027.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp2 HG03017.hp2 HG03491.hp2 HG03492.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp2 HG04228.hp1 NA18948.hp1 NA18954.hp2 NA18975.hp2 NA18982.hp2 NA18983.hp2 NA19009.hp2 NA19062.hp1 NA19066.hp1 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0020 others(25): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0080 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0002g0064 a0001c0003t0001g0128 a0001c0003t0001g0129	36	396	0.0909	20	c.123 others(37): Show c.1239+364_1239+365insCCCTTCCTTCCTTCCTTCCT	PABPC1L	ENSG00000101104.13	transcript	ENST00000217073.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
PABPC1L_chr20_44905060_44944316	44931168	T T	TTTCCTCC others(13): Show TTTCCTCCCTTCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0307 a0001c0003t0002g0307	1	396	0.0025	20	c.123 others(37): Show c.1239+443_1239+444insTCCTCCCTTCTTCCCTCCCT	PABPC1L	ENSG00000101104.13	transcript	ENST00000217073.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
PABPC1_chr8_100697916_100727088	100700663	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 NA19070.hp1 HG03492.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0146 a0001c0001t0001g0001 a0001c0001t0001g0146	2	416	0.0048	20	c.26 others(31): Show c.2697_*2698insGTTTTTTTTTTTTTTTTTTT	PABPC1	ENSG00000070756.17	transcript	ENST00000318607.10	protein_coding		2252		chr8	TogoVar
PABPC4_chr1_39555816_39581790	39577405	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 NA20129.hp1 HG02486.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	2	374	0.0054	20	c.-14 others(31): Show c.-1455_-1454insTTTTTTTTTTTTTTTTTTTT	PABPC4	ENSG00000090621.15	transcript	ENST00000372858.8	protein_coding		616		chr1	TogoVar
PACC1_chr1_212358928_212419886	212381769	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0076 a0001c0001t0003g0076	1	374	0.0027	20	c.496 others(37): Show c.496-1733_496-1732insTGTGTGTGTGTGTGTGTGTG	PACC1	ENSG00000065600.13	transcript	ENST00000261455.9	protein_coding	4/7			chr1	TogoVar
PACC1_chr1_212358928_212419886	212381770	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG00597.hp2 others(37): Show HG00140.hp1 HG00544.hp2 HG00597.hp2 HG01106.hp2 HG01192.hp2 HG01243.hp2 HG01516.hp1 HG01517.hp2 HG02015.hp2 HG02135.hp1 HG02165.hp2 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02717.hp2 HG02886.hp1 HG02896.hp1 HG03453.hp1 HG03486.hp1 HG03927.hp1 HG04184.hp2 NA18522.hp1 NA18906.hp1 NA18945.hp2 NA18954.hp1 NA18957.hp1 NA18960.hp2 NA18962.hp1 NA18970.hp2 NA18978.hp1 NA18986.hp1 NA19000.hp1 NA19006.hp2 NA19012.hp1 NA19012.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016	a0001c0001t0001g0187 a0001c0001t0001g0211 a0001c0001t0001g0222 others(37): Show a0001c0001t0001g0187 a0001c0001t0001g0211 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0002g0289 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0037 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0051 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0064 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0075 a0001c0001t0004g0295 a0001c0001t0004g0305 a0001c0001t0004g0307 a0001c0001t0004g0308 a0001c0001t0007g0048 a0001c0001t0007g0049 a0001c0001t0007g0050 a0001c0001t0007g0060 a0001c0001t0007g0061 a0001c0001t0007g0062 a0001c0001t0010g0031 a0001c0001t0012g0216 a0001c0001t0013g0154 a0001c0001t0015g0155 a0001c0001t0016g0306	40	374	0.1070	20	c.496 others(37): Show c.496-1753_496-1734dupGTGTGTGTGTGTGTGTGTGT	PACC1	ENSG00000065600.13	transcript	ENST00000261455.9	protein_coding	4/7			chr1	TogoVar
PACC1_chr1_212358928_212419886	212381770	G G	GACACAGT others(13): Show GACACAGTGACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02257.hp1 HG02280.hp1 others(2): Show HG01243.hp1 HG02257.hp1 HG02280.hp1 HG02717.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0310 a0001c0002t0001g0311 a0001c0002t0001g0312 others(2): Show a0001c0002t0001g0310 a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0002t0001g0313 a0001c0005t0001g0260	5	374	0.0134	20	c.496 others(37): Show c.496-1734_496-1733insGTGTGTGTGTGTCACTGTGT	PACC1	ENSG00000065600.13	transcript	ENST00000261455.9	protein_coding	4/7			chr1	TogoVar
PACRG_chr6_162722974_163320500	162747474	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp1 HG02451.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0087 a0001c0001t0001g0089	2	130	0.0154	20	c.156 others(39): Show c.156+19102_156+19103insATATATATATATATATATAT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162981305	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0082 a0001c0001t0004g0082	1	130	0.0077	20	c.292 others(39): Show c.292-80844_292-80843insATATATATATATATATATTT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162981305	A A	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	130	0.0077	20	c.292 others(39): Show c.292-80844_292-80843insATATATATATTTTTTTTTTT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163004726	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	130	0.0077	20	c.292 others(39): Show c.292-57423_292-57422insGTGTGTGTGTGTGTGTGTAT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163013262	G G	GTTTATTT others(13): Show GTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18989.hp1 HG01891.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0123 a0001c0001t0002g0047 a0001c0001t0001g0123 a0001c0001t0002g0047	2	130	0.0154	20	c.292 others(39): Show c.292-48876_292-48857dupATTTATTTATTTATTTATTT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163139381	T T	TCCTAATA others(13): Show TCCTAATAAGGTACATTTGTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(111): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG01109.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03704.hp1 HG03704.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18965.hp2 NA18971.hp2 NA18981.hp1 NA18989.hp1 NA18989.hp2 NA19012.hp1 NA19012.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0002t0010 a0001c0002t0018 a0001c0003t0003 a0001c0003t0009 a0001c0004t0003 a0001c0004t0011	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0017 others(111): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0002g0003 a0001c0001t0002g0024 a0001c0001t0002g0029 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0086 a0001c0001t0002g0090 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0107 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0129 a0001c0001t0003g0002 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0018 a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0001t0003g0036 a0001c0001t0003g0068 a0001c0001t0003g0091 a0001c0001t0003g0102 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0004g0070 a0001c0001t0004g0073 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0079 a0001c0001t0004g0082 a0001c0001t0004g0084 a0001c0001t0005g0071 a0001c0001t0005g0072 a0001c0001t0005g0078 a0001c0001t0005g0081 a0001c0001t0006g0009 a0001c0001t0006g0012 a0001c0001t0007g0094 a0001c0001t0008g0069 a0001c0001t0009g0088 a0001c0001t0013g0013 a0001c0001t0014g0109 a0001c0001t0015g0062 a0001c0001t0016g0059 a0001c0002t0010g0027 a0001c0002t0010g0064 a0001c0002t0018g0063 a0001c0003t0003g0061 a0001c0003t0003g0065 a0001c0003t0009g0080 a0001c0004t0003g0045 a0001c0004t0011g0034	114	130	0.8769	20	c.613 others(39): Show c.613+49990_613+49991insGTACCTAATAAGGTACATTT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163177710	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	130	0.0077	20	c.613 others(39): Show c.613+88310_613+88329dupTTTTTTTTTTTTTTTTTTTT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163250883	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	130	0.0077	20	c.614 others(39): Show c.614-63939_614-63920dupTATATATATATATATATATA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163250906	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	130	0.0077	20	c.614 others(39): Show c.614-63920_614-63919insTATATATATATATATATACA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163276008	C C	CTTCTTTC others(13): Show CTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02818.hp2 NA18981.hp2 HG00140.hp1 HG02818.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0030 a0001c0001t0003g0014 a0001c0001t0004g0079 a0001c0001t0001g0030 a0001c0001t0003g0014 a0001c0001t0004g0079	3	130	0.0231	20	c.614 others(39): Show c.614-38808_614-38789dupCTTTCTTTCTTTCTTTCTTT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACS1_chr11_66065272_66249744	66138084	G G	GTTTATTT others(13): Show GTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	322	0.0031	20	c.357 others(39): Show c.357-55395_357-55376dupTATTTATTTATTTATTTATT	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PACS1_chr11_66065272_66249744	66202742	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0082 a0002c0004t0002g0082	1	322	0.0031	20	c.445 others(37): Show c.445-7619_445-7618insAAAAAAAAAAAAAATATATA	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PACS1_chr11_66065272_66249744	66202742	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	322	0.0031	20	c.445 others(37): Show c.445-7619_445-7618insAAAAAAAAAAAATATATATA	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PACS1_chr11_66065272_66249744	66202742	A A	AAAAAAAA others(13): Show AAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	322	0.0031	20	c.445 others(37): Show c.445-7619_445-7618insAAAAAAAATATATATATATA	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PACSIN2_chr22_42864773_43020149	42889373	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG00673.hp1 others(23): Show HG00423.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG01081.hp1 HG01175.hp1 HG01884.hp2 HG02040.hp1 HG02145.hp2 HG02451.hp2 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp2 NA18522.hp1 NA18747.hp2 NA19004.hp1 NA19056.hp1 NA19056.hp2 NA19066.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0001t0001 a0001c0001t0002 a0001c0001t0017	a0001c0001t0001g0029 a0001c0001t0001g0044 a0001c0001t0001g0045 others(23): Show a0001c0001t0001g0029 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0065 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0118 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0149 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0197 a0001c0001t0001g0215 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0002g0141 a0001c0001t0002g0242 a0001c0001t0002g0247 a0001c0001t0017g0086	26	294	0.0884	20	c.454 others(35): Show c.454-595_454-576dupGTGTGTGTGTGTGTGTGTGT	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	4/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	42889373	T T	TACACACA others(13): Show TACACACACACATACACACAC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0080 a0001c0003t0009g0080	1	294	0.0034	20	c.454 others(35): Show c.454-576_454-575insGTGTGTGTATGTGTGTGTGT	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	4/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	42969043	C C	CTCCATCC others(13): Show CTCCATCCATCCATCCATCCA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp2 others(77): Show HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG00735.hp2 HG01081.hp2 HG01099.hp1 HG01258.hp2 HG01433.hp2 HG01515.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02145.hp2 HG02165.hp1 HG02300.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp2 HG03834.hp1 HG04184.hp2 NA18747.hp1 NA18906.hp1 NA18940.hp1 NA18942.hp2 NA18949.hp2 NA18952.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18970.hp2 NA18971.hp2 NA18981.hp1 NA18981.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0002t0003 a0001c0003t0010 a0003c0006t0021	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 others(77): Show a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0265 a0001c0001t0002g0053 a0001c0001t0002g0093 a0001c0001t0002g0105 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0146 a0001c0001t0002g0159 a0001c0001t0011g0057 a0001c0001t0014g0094 a0001c0001t0016g0114 a0001c0001t0018g0101 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0003t0010g0125 a0003c0006t0021g0006	80	294	0.2721	20	c.-78 others(39): Show c.-78+45958_-78+45977dupTGGATGGATGGATGGATGGA	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	42969068	T T	TCCATCCA others(13): Show TCCATCCATCCATCCATCCAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	294	0.0034	20	c.-78 others(39): Show c.-78+45952_-78+45953insGTGGATGGATGGATGGATGG	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	42982869	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	294	0.0034	20	c.-78 others(39): Show c.-78+32132_-78+32151dupTTTTTTTTTTTTTTTTTTTT	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	43010398	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0025 a0001c0002t0003g0025	1	294	0.0034	20	c.-78 others(37): Show c.-78+4622_-78+4623insAATATATATATATATATATA	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PADI1_chr1_17200128_17251007	17222958	A A	ACCCATGG others(13): Show ACCCATGGCATACAGTGATCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00438.hp1 others(110): Show HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00609.hp1 HG00621.hp1 HG00733.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG02004.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp2 HG03942.hp2 HG04115.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18953.hp2 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18969.hp2 NA18977.hp2 NA18983.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19063.hp2 NA19065.hp2 NA19068.hp2 NA19074.hp2 NA19240.hp2 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0008 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0013 a0001c0014 a0001c0016 a0001c0017 a0002c0007 a0002c0026 a0003c0012 a0005c0011 a0006c0024 a0008c0025 a0011c0022 a0012c0021	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(32): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0010 a0001c0002t0026 a0001c0003t0001 a0001c0003t0004 a0001c0003t0014 a0001c0003t0015 a0001c0004t0001 a0001c0004t0019 a0001c0004t0025 a0001c0005t0008 a0001c0006t0001 a0001c0006t0002 a0001c0008t0001 a0001c0013t0001 a0001c0014t0009 a0001c0016t0001 a0001c0017t0001 a0002c0007t0001 a0002c0026t0001 a0003c0012t0001 a0005c0011t0001 a0005c0011t0009 a0006c0024t0016 a0008c0025t0001 a0011c0022t0001 a0012c0021t0022	a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0034 others(106): Show a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0050 a0001c0001t0001g0082 a0001c0001t0001g0202 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0226 a0001c0001t0001g0242 a0001c0001t0001g0277 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0323 a0001c0001t0001g0365 a0001c0001t0001g0367 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0004g0098 a0001c0001t0005g0385 a0001c0001t0006g0012 a0001c0001t0006g0382 a0001c0001t0011g0208 a0001c0001t0011g0321 a0001c0001t0012g0049 a0001c0001t0012g0316 a0001c0002t0001g0007 a0001c0002t0001g0041 a0001c0002t0001g0047 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0060 a0001c0002t0001g0215 a0001c0002t0001g0217 a0001c0002t0001g0236 a0001c0002t0001g0238 a0001c0002t0001g0257 a0001c0002t0001g0260 a0001c0002t0001g0303 a0001c0002t0001g0306 a0001c0002t0001g0320 a0001c0002t0001g0322 a0001c0002t0001g0342 a0001c0002t0001g0372 a0001c0002t0001g0378 a0001c0002t0002g0214 a0001c0002t0007g0225 a0001c0002t0010g0212 a0001c0002t0010g0380 a0001c0002t0026g0387 a0001c0003t0001g0080 a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0001g0152 a0001c0003t0001g0160 a0001c0003t0001g0164 a0001c0003t0001g0165 a0001c0003t0001g0183 a0001c0003t0001g0185 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0191 a0001c0003t0001g0195 a0001c0003t0001g0243 a0001c0003t0001g0271 a0001c0003t0001g0289 a0001c0003t0001g0294 a0001c0003t0001g0295 a0001c0003t0001g0297 a0001c0003t0001g0309 a0001c0003t0001g0318 a0001c0003t0001g0356 a0001c0003t0004g0059 a0001c0003t0004g0279 a0001c0003t0014g0328 a0001c0003t0015g0192 a0001c0004t0001g0317 a0001c0004t0001g0384 a0001c0004t0001g0388 a0001c0004t0019g0087 a0001c0004t0025g0040 a0001c0005t0008g0343 a0001c0006t0001g0053 a0001c0006t0001g0123 a0001c0006t0001g0182 a0001c0006t0001g0293 a0001c0006t0002g0118 a0001c0006t0002g0298 a0001c0008t0001g0124 a0001c0013t0001g0051 a0001c0013t0001g0331 a0001c0014t0009g0386 a0001c0016t0001g0016 a0001c0016t0001g0021 a0001c0017t0001g0020 a0002c0007t0001g0013 a0002c0007t0001g0091 a0002c0007t0001g0216 a0002c0026t0001g0325 a0003c0012t0001g0069 a0005c0011t0001g0364 a0005c0011t0009g0319 a0006c0024t0016g0153 a0008c0025t0001g0042 a0011c0022t0001g0190 a0012c0021t0022g0390	113	406	0.2783	20	c.273 others(35): Show c.273+492_273+493insTGGCATACAGTGATCCCCCA	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI1_chr1_17200128_17251007	17229208	C C	CCCCACCC others(13): Show CCCCACCCTGCCCAACCCTGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	406	0.0025	20	c.929 others(35): Show c.929+170_929+189dupAACCCTGACCCACCCTGCCC	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI1_chr1_17200128_17251007	17235261	G G	GGGAAGGA others(13): Show GGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG02027.hp2 others(6): Show HG00438.hp2 HG00597.hp2 HG02027.hp2 HG02080.hp1 HG02129.hp2 HG02135.hp2 NA18943.hp2 NA18960.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0147 others(6): Show a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0147 a0001c0001t0001g0341 a0001c0002t0001g0062 a0001c0002t0001g0151 a0001c0002t0001g0223 a0001c0002t0001g0237 a0001c0002t0001g0254	9	406	0.0222	20	c.131 others(39): Show c.1314-2041_1314-2022dupAGGAAGGAAGGAAGGAAGGA	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results