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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PCDHGA12_chr5_141425507_141517975	141438609	TATATATA others(27): Show TATATATATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03225.hp1 HG02559.hp2 HG03225.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0010 a0006c0008t0010	a0006c0008t0010g0012 a0006c0008t0010g0031 a0006c0008t0010g0012 a0006c0008t0010g0031	2	315	0.0063	-34	c.242 others(53): Show c.2424+5428_2424+5461delTATATATATATATATATATATATATA CACACACA	PCDHGA12	ENSG00000253159.3	transcript	ENST00000252085.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA1_chr5_141325514_141517975	141438609	TATATATA others(27): Show TATATATATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03225.hp1 HG02559.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0076 a0001c0002t0001g0034 a0001c0001t0001g0076 a0001c0002t0001g0034	2	265	0.0075	-34	c.242 others(55): Show c.2422-56196_2422-56163delTATATATATATATATATATATATA TACACACACA	PCDHGA1	ENSG00000204956.6	transcript	ENST00000517417.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA2_chr5_141333760_141517975	141438609	TATATATA others(27): Show TATATATATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03225.hp2 HG02559.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0110 a0001c0006t0001g0189 a0001c0001t0001g0110 a0001c0006t0001g0189	2	269	0.0074	-34	c.242 others(55): Show c.2425-56196_2425-56163delTATATATATATATATATATATATA TACACACACA	PCDHGA2	ENSG00000081853.15	transcript	ENST00000394576.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA3_chr5_141338829_141517975	141438609	TATATATA others(27): Show TATATATATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03225.hp1 HG02559.hp2 HG03225.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0058 a0008c0012t0001g0059 a0008c0012t0001g0058 a0008c0012t0001g0059	2	267	0.0075	-34	c.242 others(55): Show c.2425-56196_2425-56163delTATATATATATATATATATATATA TACACACACA	PCDHGA3	ENSG00000254245.3	transcript	ENST00000253812.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA4_chr5_141350021_141517975	141438609	TATATATA others(27): Show TATATATATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03225.hp1 HG02559.hp1 HG03225.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0227 a0008c0009t0001g0228 a0008c0009t0001g0227 a0008c0009t0001g0228	2	271	0.0074	-34	c.251 others(55): Show c.2515-56196_2515-56163delTATATATATATATATATATATATA TACACACACA	PCDHGA4	ENSG00000262576.3	transcript	ENST00000571252.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA5_chr5_141359162_141517975	141438609	TATATATA others(27): Show TATATATATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03225.hp2 HG02559.hp1 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0019 a0001c0003t0001g0130 a0001c0003t0001g0019 a0001c0003t0001g0130	2	289	0.0069	-34	c.242 others(55): Show c.2422-56196_2422-56163delTATATATATATATATATATATATA TACACACACA	PCDHGA5	ENSG00000253485.3	transcript	ENST00000518069.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA6_chr5_141368891_141517975	141438609	TATATATA others(27): Show TATATATATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03225.hp2 HG02559.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0287 a0001c0001t0001g0288	2	289	0.0069	-34	c.242 others(55): Show c.2425-56196_2425-56163delTATATATATATATATATATATATA TACACACACA	PCDHGA6	ENSG00000253731.3	transcript	ENST00000517434.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA7_chr5_141377742_141517975	141438609	TATATATA others(27): Show TATATATATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03225.hp2 HG02559.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0260 a0001c0001t0001g0261	2	289	0.0069	-34	c.242 others(55): Show c.2424+53288_2424+53321delTATATATATATATATATATATATA TACACACACA	PCDHGA7	ENSG00000253537.3	transcript	ENST00000518325.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA8_chr5_141387633_141517975	141438609	TATATATA others(27): Show TATATATATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03225.hp2 HG02559.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0002 a0001c0004t0001g0003 a0001c0004t0001g0002 a0001c0004t0001g0003	2	299	0.0067	-34	c.242 others(55): Show c.2424+43374_2424+43407delTATATATATATATATATATATATA TACACACACA	PCDHGA8	ENSG00000253767.3	transcript	ENST00000398604.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA9_chr5_141397778_141517975	141438609	TATATATA others(27): Show TATATATATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03225.hp1 HG02559.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0266 a0001c0003t0001g0267 a0001c0003t0001g0266 a0001c0003t0001g0267	2	299	0.0067	-34	c.242 others(55): Show c.2424+33235_2424+33268delTATATATATATATATATATATATA TACACACACA	PCDHGA9	ENSG00000261934.3	transcript	ENST00000573521.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB1_chr5_141345099_141517975	141438609	TATATATA others(27): Show TATATATATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03225.hp2 HG02559.hp1 HG03225.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0268 a0005c0011t0001g0269 a0005c0011t0001g0268 a0005c0011t0001g0269	2	275	0.0073	-34	c.241 others(55): Show c.2410-56196_2410-56163delTATATATATATATATATATATATA TACACACACA	PCDHGB1	ENSG00000254221.3	transcript	ENST00000523390.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB2_chr5_141354994_141517975	141438609	TATATATA others(27): Show TATATATATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03225.hp2 HG02559.hp2 HG03225.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0253 a0003c0010t0001g0254 a0003c0010t0001g0253 a0003c0010t0001g0254	2	285	0.0070	-34	c.242 others(55): Show c.2422-56196_2422-56163delTATATATATATATATATATATATA TACACACACA	PCDHGB2	ENSG00000253910.3	transcript	ENST00000522605.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB3_chr5_141365242_141517975	141438609	TATATATA others(27): Show TATATATATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03225.hp1 HG02559.hp2 HG03225.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0269 a0001c0011t0001g0270 a0001c0011t0001g0269 a0001c0011t0001g0270	2	293	0.0068	-34	c.241 others(55): Show c.2416-56196_2416-56163delTATATATATATATATATATATATA TACACACACA	PCDHGB3	ENSG00000262209.3	transcript	ENST00000576222.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB4_chr5_141382698_141517975	141438609	TATATATA others(27): Show TATATATATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03225.hp1 HG02559.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0231 a0001c0001t0001g0232	2	291	0.0069	-34	c.239 others(55): Show c.2397+48330_2397+48363delTATATATATATATATATATATATA TACACACACA	PCDHGB4	ENSG00000253953.3	transcript	ENST00000519479.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB5_chr5_141392947_141517975	141438609	TATATATA others(27): Show TATATATATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03225.hp2 HG02559.hp1 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0105 a0002c0002t0002g0106	2	297	0.0067	-34	c.239 others(55): Show c.2397+38087_2397+38120delTATATATATATATATATATATATA TACACACACA	PCDHGB5	ENSG00000276547.2	transcript	ENST00000617380.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB6_chr5_141403021_141517975	141438609	TATATATA others(27): Show TATATATATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03225.hp1 HG02559.hp2 HG03225.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0160 a0002c0010t0001g0161 a0002c0010t0001g0160 a0002c0010t0001g0161	2	299	0.0067	-34	c.241 others(55): Show c.2418+27991_2418+28024delTATATATATATATATATATATATA TACACACACA	PCDHGB6	ENSG00000253305.3	transcript	ENST00000520790.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB7_chr5_141412677_141517975	141438609	TATATATA others(27): Show TATATATATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03225.hp1 HG02559.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0110 a0001c0001t0002g0111	2	303	0.0066	-34	c.241 others(55): Show c.2415+18337_2415+18370delTATATATATATATATATATATATA TACACACACA	PCDHGB7	ENSG00000254122.3	transcript	ENST00000398594.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCGF3_chr4_700832_775089	706649	AGGGAGGG others(27): Show AGGGAGGGCGAAGACCCCAGCCCAGGCAGGACCGC	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0073 a0001c0001t0007g0073	1	364	0.0027	-34	c.-19 others(51): Show c.-190+688_-190+721delGAAGACCCCAGCCCAGGCAGGACCGCGG GAGGGC	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	736788	ACGCGGGA others(27): Show ACGCGGGAAACCTGGGGTGTCTGCAGGGACAGTGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00544.hp1 others(86): Show HG00099.hp2 HG00323.hp2 HG00544.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01243.hp1 HG01256.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01981.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02109.hp1 HG02132.hp1 HG02145.hp1 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18948.hp1 NA18962.hp2 NA18970.hp1 NA18971.hp2 NA18982.hp1 NA18990.hp1 NA18998.hp2 NA19005.hp1 NA19007.hp1 NA19030.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0008 a0001c0001 a0002c0002 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0001t0033 a0001c0001t0035 a0001c0001t0038 a0001c0001t0046 a0001c0001t0050 a0001c0001t0051 a0001c0001t0058 a0001c0001t0062 a0001c0001t0063 a0002c0002t0003 a0002c0002t0007 a0002c0002t0044 a0002c0002t0045 a0002c0002t0048 a0002c0002t0049 a0002c0002t0052 a0003c0008t0001	a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0026 others(84): Show a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0002g0047 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0038 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0051 a0001c0001t0003g0056 a0001c0001t0003g0065 a0001c0001t0003g0068 a0001c0001t0004g0004 a0001c0001t0004g0115 a0001c0001t0004g0190 a0001c0001t0004g0244 a0001c0001t0004g0255 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0283 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0313 a0001c0001t0004g0314 a0001c0001t0004g0355 a0001c0001t0004g0356 a0001c0001t0004g0357 a0001c0001t0004g0358 a0001c0001t0012g0040 a0001c0001t0012g0054 a0001c0001t0012g0285 a0001c0001t0013g0048 a0001c0001t0014g0061 a0001c0001t0014g0062 a0001c0001t0014g0063 a0001c0001t0019g0352 a0001c0001t0019g0353 a0001c0001t0019g0354 a0001c0001t0022g0049 a0001c0001t0022g0069 a0001c0001t0023g0284 a0001c0001t0023g0288 a0001c0001t0027g0041 a0001c0001t0028g0059 a0001c0001t0028g0060 a0001c0001t0033g0027 a0001c0001t0035g0020 a0001c0001t0038g0043 a0001c0001t0046g0058 a0001c0001t0050g0050 a0001c0001t0051g0042 a0001c0001t0058g0052 a0001c0001t0062g0074 a0001c0001t0063g0064 a0002c0002t0003g0001 a0002c0002t0003g0013 a0002c0002t0003g0014 a0002c0002t0003g0015 a0002c0002t0003g0024 a0002c0002t0003g0033 a0002c0002t0003g0035 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0003g0039 a0002c0002t0003g0055 a0002c0002t0003g0057 a0002c0002t0003g0067 a0002c0002t0003g0070 a0002c0002t0003g0071 a0002c0002t0003g0072 a0002c0002t0007g0025 a0002c0002t0044g0032 a0002c0002t0045g0009 a0002c0002t0048g0021 a0002c0002t0049g0066 a0002c0002t0052g0034 a0003c0008t0001g0022	89	364	0.2445	-34	c.207 others(49): Show c.207-671_207-638delAAACCTGGGGTGTCTGCAGGGACAGTGTCG CGGG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCNT_chr21_46319156_46450769	46382675	GTTCAGTG others(27): Show GTTCAGTGGCGGAAGCGCATTCACAGTGTTGTATA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02615.hp2 HG03139.hp1 HG01109.hp1 HG02615.hp2 HG03139.hp1	a0004 a0004	a0004c0023 a0004c0023	a0004c0023t0003 a0004c0023t0003	a0004c0023t0003g0092 a0004c0023t0003g0093 a0004c0023t0003g0094 a0004c0023t0003g0092 a0004c0023t0003g0093 a0004c0023t0003g0094	3	330	0.0091	-34	c.331 others(51): Show c.3312+863_3312+896delTTGTATATTCAGTGGCGGAAGCGCATTC ACAGTG	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	16/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNX1_chr14_70902459_71120382	71006103	CTGTGTGT others(27): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01884.hp2 HG02074.hp2 others(8): Show HG00558.hp2 HG01884.hp2 HG02074.hp2 HG02132.hp1 HG03486.hp2 NA18970.hp1 NA18986.hp1 NA18989.hp2 NA18990.hp2 NA19060.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0020 a0001c0001t0037 others(1): Show a0001c0001t0002 a0001c0001t0020 a0001c0001t0037 a0001c0001t0043	a0001c0001t0002g0012 a0001c0001t0002g0018 a0001c0001t0002g0048 others(8): Show a0001c0001t0002g0012 a0001c0001t0002g0018 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0020g0013 a0001c0001t0020g0015 a0001c0001t0020g0016 a0001c0001t0037g0036 a0001c0001t0043g0014	11	20	0.5500	-34	c.263 others(53): Show c.2630-3497_2630-3464delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	8/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCSK5_chr9_75885673_76367975	75908911	CTATCTAT others(27): Show CTATCTATCTATCTCTCTATCTCTCTCTCTGTCTA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	164	0.0061	-34	c.192 others(53): Show c.192+17540_192+17573delATCTATCTATCTCTCTATCTCTCTCT CTGTCTAT	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76040351	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA19240.hp2 HG02559.hp2 NA19240.hp2	a0002 a0048 a0002 a0048	a0002c0047 a0048c0083 a0002c0047 a0048c0083	a0002c0047t0045 a0048c0083t0020 a0002c0047t0045 a0048c0083t0020	a0002c0047t0045g0128 a0048c0083t0020g0076 a0002c0047t0045g0128 a0048c0083t0020g0076	2	164	0.0122	-34	c.632 others(53): Show c.632+13343_632+13376delTCTCTGTCTCTCTCTCTCTCTCTCTC TCTCTCTC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCYT1B_chrX_24553087_24652347	24593437	CTTTCTTT others(27): Show CTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02818.hp1 HG03540.hp1 others(3): Show HG02809.hp1 HG02818.hp1 HG03540.hp1 NA18984.hp1 NA19043.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0027 a0001c0001t0064 others(3): Show a0001c0001t0026 a0001c0001t0027 a0001c0001t0064 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087	a0001c0001t0026g0087 a0001c0001t0027g0090 a0001c0001t0064g0164 others(3): Show a0001c0001t0026g0087 a0001c0001t0027g0090 a0001c0001t0064g0164 a0001c0001t0085g0168 a0001c0001t0086g0167 a0001c0001t0087g0175	6	245	0.0245	-34	c.335 others(51): Show c.335-3297_335-3264delAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAGAAA	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	3/7			chrX	TogoVar
PDCD1_chr2_241844884_241863894	241861411	CACACACA others(27): Show CACACACACACAATTCCCAACACACACAATCCACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG03139.hp1 HG03486.hp1 HG02886.hp2 HG03139.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0006 a0001c0001t0017g0084 a0001c0001t0001g0006 a0001c0001t0017g0084	3	406	0.0074	-34	c.-26 others(45): Show c.-2607_-2574delTGTGGATTGTGTGTGTTGGGAATTGTGTGTGTGT	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		2518		chr2	TogoVar
PDE10A_chr6_165322289_165668241	165422314	CGCATATA others(27): Show CGCATATACACACACAGGCATACACACACACATAT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01358.hp1 HG01934.hp2 others(32): Show HG01257.hp2 HG01358.hp1 HG01934.hp2 HG02074.hp2 HG02132.hp2 HG02145.hp1 HG02165.hp2 HG02572.hp1 HG02622.hp2 HG02698.hp1 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG03098.hp1 HG03453.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03710.hp1 HG04204.hp1 HG06807.hp2 NA18944.hp1 NA18951.hp2 NA18954.hp2 NA18956.hp2 NA19010.hp1 NA19063.hp2 NA19074.hp2 NA19090.hp1 NA19090.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0011 a0001c0015 a0001c0020 a0001c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0033 a0001c0002t0001 a0001c0002t0004 a0001c0002t0030 a0001c0003t0001 a0001c0003t0003 a0001c0003t0011 a0001c0004t0002 a0001c0004t0018 a0001c0004t0026 a0001c0005t0001 a0001c0006t0002 a0001c0011t0028 a0001c0015t0005 a0001c0020t0008 a0001c0026t0004	a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0033 others(32): Show a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0093 a0001c0001t0001g0117 a0001c0001t0001g0148 a0001c0001t0001g0178 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0002g0088 a0001c0001t0002g0168 a0001c0001t0002g0189 a0001c0001t0003g0023 a0001c0001t0003g0149 a0001c0001t0013g0105 a0001c0001t0033g0218 a0001c0002t0001g0046 a0001c0002t0001g0059 a0001c0002t0001g0120 a0001c0002t0001g0127 a0001c0002t0004g0041 a0001c0002t0030g0085 a0001c0003t0001g0048 a0001c0003t0001g0137 a0001c0003t0003g0104 a0001c0003t0011g0094 a0001c0004t0002g0170 a0001c0004t0018g0143 a0001c0004t0026g0174 a0001c0005t0001g0035 a0001c0006t0002g0214 a0001c0011t0028g0124 a0001c0015t0005g0209 a0001c0020t0008g0145 a0001c0026t0004g0109	35	220	0.1591	-34	c.165 others(53): Show c.1654-3571_1654-3538delATATGTGTGTGTGTATGCCTGTGTGT GTATATGC	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	10/21			chr6	TogoVar
PDE3A_chr12_20363537_20693583	20467933	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0134 a0002c0002t0003g0134	1	4	0.2500	-34	c.961 others(53): Show c.961-88713_961-88680delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE4D_chr5_58964038_59898726	59200075	GCACACAT others(27): Show GCACACATACATGTATGTAGACATACATGTATGCA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02647.hp1 HG02698.hp2 others(2): Show HG01891.hp2 HG02647.hp1 HG02698.hp2 HG02965.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010	a0001c0001t0001g0014 a0001c0001t0002g0060 a0001c0001t0004g0031 others(2): Show a0001c0001t0001g0014 a0001c0001t0002g0060 a0001c0001t0004g0031 a0001c0001t0010g0035 a0001c0001t0010g0068	5	73	0.0685	-34	c.648 others(51): Show c.648-6573_648-6540delTGCATACATGTATGTCTACATACATGTA TGTGTG	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	2/14			chr5	TogoVar
PDE4D_chr5_58964038_59898726	59200262	CATATGTG others(27): Show CATATGTGTATGTACAGCTACAAGTATACATACAT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02717.hp1 NA20129.hp2 HG02647.hp2 HG02717.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0001t0005 a0001c0004t0007 a0001c0001t0004 a0001c0001t0005 a0001c0004t0007	a0001c0001t0004g0027 a0001c0001t0005g0050 a0001c0004t0007g0011 a0001c0001t0004g0027 a0001c0001t0005g0050 a0001c0004t0007g0011	3	61	0.0492	-34	c.648 others(51): Show c.648-6760_648-6727delATGTATGTATACTTGTAGCTGTACATAC ACATAT	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	2/14			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149923545	TAACATAA others(27): Show TAACATAACATAACATAACATAACATAACATAACA	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0021 a0001c0030t0021	a0001c0030t0021g0282 a0001c0030t0021g0282	1	326	0.0031	-34	c.859 others(51): Show c.859-1870_859-1837delTGTTATGTTATGTTATGTTATGTTATGT TATGTT	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6B_chr4_620573_675782	658114	GCAGGTCA others(27): Show GCAGGTCACCAGGGGTCACAGCTGTGCGGTGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0046 a0001c0001t0011g0046	1	306	0.0033	-34	c.140 others(51): Show c.1401+638_1401+671delCAGCTGTGCGGTGGGGACAGGTCACCAG GGGTCA	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6G_chr17_81645459_81661542	81658582	TGTAATCT others(27): Show TGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02630.hp1 HG02622.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	2	432	0.0046	-34	c.-21 others(45): Show c.-2183_-2150delCACCTGCCTCGGCCTCCCAAAGTGCTGAGATTAC	PDE6G	ENSG00000185527.12	transcript	ENST00000331056.10	protein_coding		2041		chr17	TogoVar
PDE9A_chr21_42648621_42780509	42670353	CACATCCA others(27): Show CACATCCACACACACATTCACACACATTCACATTT	C C	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0220 a0001c0003t0001g0220	1	322	0.0031	-34	c.70- others(51): Show c.70-15834_70-15801delCCACACACACATTCACACACATTCACAT TTACAT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDGFB_chr22_39218359_39249982	39247879	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 NA19043.hp1 HG02647.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0078 a0001c0002t0006g0089 a0001c0002t0006g0078 a0001c0002t0006g0089	2	359	0.0056	-34	c.-39 others(45): Show c.-3950_-3917delATATATATATATATATATATATATTTTTTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2898		chr22	TogoVar
PDGFC_chr4_156755454_156976799	156891279	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	9	0.1111	-34	c.119 others(53): Show c.119-40897_119-40864delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	1/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156974933	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG01071.hp2 others(37): Show HG00438.hp1 HG00438.hp2 HG01071.hp2 HG01109.hp2 HG01192.hp2 HG01515.hp2 HG01891.hp1 HG01975.hp1 HG02040.hp2 HG02080.hp2 HG02129.hp2 HG02559.hp2 HG02622.hp2 HG02818.hp2 HG02922.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03540.hp2 HG03710.hp1 HG04228.hp1 NA18942.hp2 NA18954.hp1 NA18954.hp2 NA18961.hp1 NA18964.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18986.hp1 NA18989.hp2 NA19054.hp1 NA19070.hp1 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0030 a0001c0001t0034 a0001c0002t0002 a0001c0002t0006 a0001c0002t0012 a0001c0002t0018	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0058 others(37): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0106 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0002g0030 a0001c0001t0002g0060 a0001c0001t0002g0067 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0112 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0003g0193 a0001c0001t0003g0195 a0001c0001t0003g0200 a0001c0001t0004g0089 a0001c0001t0005g0048 a0001c0001t0006g0024 a0001c0001t0006g0117 a0001c0001t0012g0181 a0001c0001t0012g0183 a0001c0001t0016g0182 a0001c0001t0016g0184 a0001c0001t0017g0001 a0001c0001t0030g0047 a0001c0001t0034g0203 a0001c0002t0002g0028 a0001c0002t0002g0051 a0001c0002t0002g0055 a0001c0002t0002g0061 a0001c0002t0002g0108 a0001c0002t0006g0082 a0001c0002t0012g0180 a0001c0002t0018g0002	40	43	0.9302	-34	c.-40 others(45): Show c.-4064_-4031delATATATATATATATATATATATATATATATATAT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding		3135		chr4	TogoVar
PDLIM3_chr4_185495660_185540507	185502168	GTCTAAAG others(27): Show GTCTAAAGCCTTGACTTTAGATTTGGAGTTGACAA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp1 HG02109.hp1 HG02257.hp1 others(11): Show HG01081.hp1 HG02109.hp1 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02723.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp1 HG03579.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0005 a0002c0003 a0005c0009 a0001c0005 a0002c0003 a0005c0009	a0001c0005t0005 a0002c0003t0002 a0005c0009t0002 a0001c0005t0005 a0002c0003t0002 a0005c0009t0002	a0001c0005t0005g0049 a0001c0005t0005g0050 a0002c0003t0002g0015 others(7): Show a0001c0005t0005g0049 a0001c0005t0005g0050 a0002c0003t0002g0015 a0002c0003t0002g0061 a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0083 a0002c0003t0002g0085 a0002c0003t0002g0127 a0005c0009t0002g0084	14	410	0.0341	-34	c.92 others(42): Show c.92_*125delTTGTCAACTCCAAATCTAAAGTCAAGGCTTTAGA	PDLIM3	ENSG00000154553.17	transcript	ENST00000284767.12	protein_coding	8/8	92		chr4	TogoVar
PDLIM7_chr5_177478394_177502604	177486570	GGGAGAGG others(27): Show GGGAGAGGGGGCTCTACCAGGGGTGTGGGCTGGTA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG06807.hp1 HG01243.hp2 HG06807.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0269 a0003c0006t0001g0275 a0003c0006t0001g0269 a0003c0006t0001g0275	2	438	0.0046	-34	c.105 others(53): Show c.1050+1464_1050+1497delTACCAGCCCACACCCCTGGTAGAGCC CCCTCTCC	PDLIM7	ENSG00000196923.14	transcript	ENST00000355841.7	protein_coding	10/12			chr5	TogoVar
PDP2_chr16_66875515_66896101	66893498	GATATATA others(27): Show GATATATATGTGTGTATATATATATATATATATAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00621.hp2 others(25): Show HG00544.hp1 HG00558.hp1 HG00621.hp2 HG01891.hp2 HG01975.hp1 HG02027.hp2 HG02129.hp2 HG02132.hp2 HG03831.hp1 NA18940.hp1 NA18942.hp1 NA18950.hp1 NA18963.hp2 NA18970.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp1 NA19012.hp2 NA19054.hp1 NA19060.hp2 NA19068.hp1 NA19070.hp1 NA19078.hp2 NA19080.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0040 a0001c0001t0002 a0001c0001t0021 a0001c0001t0040	a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0021g0020 others(1): Show a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0021g0020 a0001c0001t0040g0003	28	342	0.0819	-34	c.76 others(45): Show c.7625_*7658delATATATATGTGTGTATATATATATATATATATAT	PDP2	ENSG00000172840.7	transcript	ENST00000311765.4	protein_coding		2398		chr16	TogoVar
PDP2_chr16_66875515_66896101	66893521	ATATATAT others(27): Show ATATATATATATATATATATATATGTATATATATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00408.hp1 others(68): Show HG00099.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00639.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01099.hp2 HG01175.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01517.hp2 HG01928.hp1 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02083.hp2 HG02155.hp1 HG02165.hp1 HG02683.hp1 HG02698.hp1 HG02735.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp1 HG03834.hp1 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18950.hp2 NA18954.hp1 NA18956.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18971.hp2 NA18973.hp2 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA19007.hp1 NA19012.hp1 NA19054.hp2 NA19066.hp1 NA19074.hp1 NA19074.hp2 NA19088.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0005 a0004c0003 a0001c0001 a0001c0005 a0004c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0020 a0001c0001t0029 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0061 a0001c0001t0069 a0001c0001t0076 a0001c0001t0079 a0001c0005t0001 a0004c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0003g0001 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0003g0001 a0001c0001t0004g0001 a0001c0001t0005g0001 a0001c0001t0005g0029 a0001c0001t0006g0001 a0001c0001t0006g0018 a0001c0001t0012g0001 a0001c0001t0012g0004 a0001c0001t0020g0001 a0001c0001t0029g0001 a0001c0001t0056g0001 a0001c0001t0057g0009 a0001c0001t0058g0001 a0001c0001t0059g0001 a0001c0001t0061g0001 a0001c0001t0069g0001 a0001c0001t0076g0001 a0001c0001t0079g0001 a0001c0005t0001g0032 a0004c0003t0001g0001	71	345	0.2058	-34	c.76 others(45): Show c.7648_*7681delTATATATATATATATATATATATGTATATATATT	PDP2	ENSG00000172840.7	transcript	ENST00000311765.4	protein_coding		2421		chr16	TogoVar
PDP2_chr16_66875515_66896101	66893523	ATATATAT others(27): Show ATATATATATATATATATATATGTATATATATTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01255.hp2 HG01975.hp2 others(1): Show HG01099.hp1 HG01255.hp2 HG01975.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0003g0001 a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0003g0001	4	342	0.0117	-34	c.76 others(45): Show c.7650_*7683delTATATATATATATATATATATGTATATATATTTT	PDP2	ENSG00000172840.7	transcript	ENST00000311765.4	protein_coding		2423		chr16	TogoVar
PDPN_chr1_13578832_13622957	13601966	CGGTGGCT others(27): Show CGGTGGCTCATGCCTTTGGGTGGCTCATGCCTTTG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(58): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG01070.hp1 HG01081.hp1 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01257.hp2 HG01258.hp1 HG01516.hp2 HG01884.hp1 HG02015.hp2 HG02080.hp1 HG02109.hp2 HG02135.hp2 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp1 HG03927.hp1 HG04199.hp2 HG06807.hp1 NA18747.hp2 NA18951.hp2 NA18961.hp2 NA18964.hp1 NA18982.hp1 NA18984.hp2 NA18990.hp2 NA18991.hp2 NA19012.hp2 NA19043.hp2 NA19058.hp2 NA19075.hp1 NA19081.hp1 NA19083.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0056 a0001c0001t0059 a0003c0004t0022	a0001c0001t0001g0037 a0001c0001t0001g0110 a0001c0001t0001g0112 others(53): Show a0001c0001t0001g0037 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0002g0094 a0001c0001t0002g0109 a0001c0001t0002g0127 a0001c0001t0002g0139 a0001c0001t0002g0168 a0001c0001t0002g0177 a0001c0001t0002g0312 a0001c0001t0002g0315 a0001c0001t0002g0327 a0001c0001t0002g0401 a0001c0001t0003g0183 a0001c0001t0003g0193 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0246 a0001c0001t0003g0262 a0001c0001t0004g0027 a0001c0001t0004g0035 a0001c0001t0004g0172 a0001c0001t0004g0391 a0001c0001t0005g0013 a0001c0001t0005g0204 a0001c0001t0006g0194 a0001c0001t0007g0137 a0001c0001t0007g0145 a0001c0001t0007g0311 a0001c0001t0007g0313 a0001c0001t0008g0042 a0001c0001t0009g0178 a0001c0001t0009g0403 a0001c0001t0010g0244 a0001c0001t0012g0001 a0001c0001t0012g0182 a0001c0001t0018g0298 a0001c0001t0019g0184 a0001c0001t0021g0111 a0001c0001t0021g0120 a0001c0001t0022g0159 a0001c0001t0024g0020 a0001c0001t0033g0273 a0001c0001t0035g0186 a0001c0001t0036g0286 a0001c0001t0038g0305 a0001c0001t0056g0316 a0001c0001t0059g0115 a0003c0004t0022g0158 a0003c0004t0022g0402	61	260	0.2346	-34	c.68- others(49): Show c.68-5146_68-5113delTGCCTTTGGGTGGCTCATGCCTTTGGGTGG CTCA	PDPN	ENSG00000162493.17	transcript	ENST00000621990.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDPN_chr1_13578832_13622957	13602029	CCTTTGGG others(27): Show CCTTTGGGTGGCTCATGCCTTTGGGTGGCTCAGCA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0019 a0001c0001t0006g0279 a0001c0001t0006g0019 a0001c0001t0006g0279	2	444	0.0045	-34	c.68- others(49): Show c.68-5129_68-5096delTGCCTTTGGGTGGCTCAGCACTTTGGGTGG CTCA	PDPN	ENSG00000162493.17	transcript	ENST00000621990.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDXK_chr21_43714129_43767299	43741177	GGGGGGCT others(27): Show GGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGC	G G	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	354	0.0028	-34	c.143 others(49): Show c.143-484_143-451delCTCGCGGGGGGGCTCGCGGGGGGGCTCGCG GGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741361	CGGGGGGC others(27): Show CGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCG	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	301	0.0033	-34	c.143 others(49): Show c.143-297_143-264delGGCGGGGGGCTGGCGGGGGGCTCGCGGGGG GGCT	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZD2_chr5_31634131_32115932	31840396	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0016 a0016	a0016c0032 a0016c0032	a0016c0032t0001 a0016c0032t0001	a0016c0032t0001g0087 a0016c0032t0001g0087	1	42	0.0238	-34	c.476 others(53): Show c.476+40692_476+40725delATATATATATATATATATATATATAT ATATATAT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD7_chr10_101002679_101036129	101017879	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03540.hp2 HG03139.hp2 HG03540.hp2	a0004 a0013 a0004 a0013	a0004c0004 a0013c0025 a0004c0004 a0013c0025	a0004c0004t0010 a0013c0025t0013 a0004c0004t0010 a0013c0025t0013	a0004c0004t0010g0145 a0013c0025t0013g0137 a0004c0004t0010g0145 a0013c0025t0013g0137	2	429	0.0047	-34	c.152 others(51): Show c.1522+186_1522+219delTCTTTCTTTCTTTCTTTCTTTTCTTTCT TTCTTT	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	9/16			chr10	TogoVar
PDZD8_chr10_117272274_117380440	117357766	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	212	0.0047	-34	c.872 others(53): Show c.872+16556_872+16589delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	PDZD8	ENSG00000165650.12	transcript	ENST00000334464.7	protein_coding	1/4			chr10	TogoVar
PDZRN4_chr12_41183320_41579745	41383969	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0018 a0003c0005t0001g0018	1	2	0.5000	-34	c.844 others(55): Show c.844-122469_844-122436delTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41540869	TGTTGTTG others(27): Show TGTTGTTGTTGTTGTTGTTGTTGTCCCTTTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01167.hp2 HG02109.hp2 others(20): Show HG00673.hp2 HG01167.hp2 HG02109.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02622.hp1 HG02647.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA19030.hp1 NA19240.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0009	a0001c0001 a0001c0010 a0001c0013 others(9): Show a0001c0001 a0001c0010 a0001c0013 a0001c0032 a0002c0002 a0002c0015 a0002c0017 a0003c0031 a0003c0036 a0005c0008 a0005c0059 a0009c0021	a0001c0001t0001 a0001c0001t0002 a0001c0010t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0010t0004 a0001c0013t0001 a0001c0032t0007 a0002c0002t0001 a0002c0015t0001 a0002c0017t0001 a0002c0017t0002 a0003c0031t0001 a0003c0036t0001 a0005c0008t0001 a0005c0059t0001 a0009c0021t0001	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 others(20): Show a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0066 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0119 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0010t0004g0118 a0001c0013t0001g0084 a0001c0032t0007g0206 a0002c0002t0001g0087 a0002c0002t0001g0181 a0002c0015t0001g0146 a0002c0017t0001g0092 a0002c0017t0002g0019 a0003c0031t0001g0001 a0003c0036t0001g0007 a0005c0008t0001g0180 a0005c0059t0001g0193 a0009c0021t0001g0142 a0009c0021t0001g0143	23	206	0.1117	-34	c.120 others(55): Show c.1204-11763_1204-11730delCCCTTTTCTTCGTTGTTGTTGTTG TTGTTGTTGT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr12	TogoVar

Search by Variant

Search

Search Results