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
OTOG_chr11_17542259_17651044	17613178	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00639.hp2 HG00733.hp1 others(20): Show HG00609.hp2 HG00639.hp2 HG00733.hp1 HG01099.hp1 HG01243.hp2 HG01257.hp1 HG01884.hp2 HG01891.hp2 HG02074.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG03130.hp2 HG03710.hp1 HG04115.hp2 HG04199.hp2 HG06807.hp2 NA18983.hp1 NA18993.hp2 NA19060.hp1 NA19063.hp1 NA20905.hp1	a0002 a0004 a0010 others(15): Show a0002 a0004 a0010 a0015 a0018 a0019 a0027 a0030 a0033 a0034 a0044 a0049 a0050 a0066 a0067 a0086 a0102 a0108	a0002c0007 a0002c0067 a0004c0052 others(16): Show a0002c0007 a0002c0067 a0004c0052 a0010c0009 a0015c0010 a0018c0066 a0019c0015 a0027c0018 a0030c0013 a0033c0020 a0034c0089 a0044c0168 a0049c0131 a0050c0133 a0066c0082 a0067c0104 a0086c0129 a0102c0162 a0108c0155	a0002c0007t0001 a0002c0067t0001 a0004c0052t0001 others(16): Show a0002c0007t0001 a0002c0067t0001 a0004c0052t0001 a0010c0009t0002 a0015c0010t0001 a0018c0066t0002 a0019c0015t0002 a0027c0018t0002 a0030c0013t0002 a0033c0020t0001 a0034c0089t0001 a0044c0168t0002 a0049c0131t0002 a0050c0133t0001 a0066c0082t0002 a0067c0104t0002 a0086c0129t0001 a0102c0162t0002 a0108c0155t0001	a0002c0007t0001g0167 a0002c0007t0001g0242 a0002c0067t0001g0078 others(20): Show a0002c0007t0001g0167 a0002c0007t0001g0242 a0002c0067t0001g0078 a0004c0052t0001g0236 a0010c0009t0002g0194 a0015c0010t0001g0030 a0015c0010t0001g0032 a0018c0066t0002g0223 a0019c0015t0002g0248 a0019c0015t0002g0249 a0027c0018t0002g0070 a0030c0013t0002g0065 a0030c0013t0002g0117 a0033c0020t0001g0185 a0034c0089t0001g0232 a0044c0168t0002g0144 a0049c0131t0002g0021 a0050c0133t0001g0033 a0066c0082t0002g0059 a0067c0104t0002g0099 a0086c0129t0001g0038 a0102c0162t0002g0139 a0108c0155t0001g0129	23	262	0.0878	-17	c.643 others(34): Show c.6439-414_6439-398delTCTTTCTTTCTTTCTTT	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	38/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
OTUD3_chr1_19877395_19917945	19880334	AGTGTTGG others(10): Show AGTGTTGGGATTACAAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(55): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01099.hp2 HG01175.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG02015.hp2 HG02055.hp1 HG02109.hp2 HG02258.hp2 HG02300.hp2 HG02622.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03490.hp1 HG03492.hp2 HG03669.hp2 HG03688.hp2 HG03927.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18970.hp1 NA18971.hp1 NA18998.hp1 NA19080.hp2 NA19240.hp1 NA20129.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0010 a0001c0001t0015 a0001c0001t0018 others(16): Show a0001c0001t0010 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0047 a0001c0003t0009 a0001c0003t0011 a0001c0003t0042 a0001c0003t0043 a0001c0003t0044 a0002c0002t0004 a0002c0002t0045 a0002c0002t0046 a0003c0004t0007	a0001c0001t0010g0022 a0001c0001t0010g0045 a0001c0001t0010g0055 others(31): Show a0001c0001t0010g0022 a0001c0001t0010g0045 a0001c0001t0010g0055 a0001c0001t0010g0056 a0001c0001t0015g0053 a0001c0001t0018g0149 a0001c0001t0018g0150 a0001c0001t0019g0038 a0001c0001t0023g0037 a0001c0001t0027g0158 a0001c0001t0028g0022 a0001c0001t0029g0030 a0001c0001t0030g0030 a0001c0001t0047g0118 a0001c0003t0009g0012 a0001c0003t0009g0145 a0001c0003t0011g0020 a0001c0003t0011g0146 a0001c0003t0042g0020 a0001c0003t0043g0147 a0001c0003t0044g0148 a0002c0002t0004g0005 a0002c0002t0004g0151 a0002c0002t0004g0153 a0002c0002t0004g0154 a0002c0002t0004g0155 a0002c0002t0004g0156 a0002c0002t0004g0157 a0002c0002t0045g0005 a0002c0002t0046g0152 a0003c0004t0007g0026 a0003c0004t0007g0039 a0003c0004t0007g0040 a0003c0004t0007g0159	58	372	0.1559	-17	c.-21 others(28): Show c.-2179_-2163delGTGTTGGGATTACAAGC	OTUD3	ENSG00000169914.6	transcript	ENST00000375120.4	protein_coding		2060		chr1	TogoVar
OTUD5_chrX_48917024_48962607	48941432	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02630.hp1 HG03139.hp1 HG01891.hp2 HG02630.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224	3	16	0.1875	-17	c.688 others(34): Show c.688+2741_688+2757delTTTTTTTTTTTTTTTTT	OTUD5	ENSG00000068308.15	transcript	ENST00000376488.8	protein_coding	2/8			chrX	TogoVar
OTUD7A_chr15_31470398_31875673	31510886	TGTATATC others(10): Show TGTATATCTATATGTAAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0016 a0001c0002t0026g0016	1	243	0.0041	-17	c.894 others(34): Show c.894-7085_894-7069delGTTACATATAGATATAC	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31510995	TATGTATA others(10): Show TATGTATATCTATATGTA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0011 a0001c0012t0011	a0001c0012t0011g0092 a0001c0012t0011g0093 a0001c0012t0011g0092 a0001c0012t0011g0093	2	229	0.0087	-17	c.894 others(34): Show c.894-7194_894-7178delTACATATAGATATACAT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31659064	TAAATAAA others(10): Show TAAATAAATAAATAAATA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03195.hp1 HG03540.hp1 others(1): Show HG02559.hp2 HG03195.hp1 HG03540.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0090 a0001c0002t0031 a0001c0002t0096 others(1): Show a0001c0001t0090 a0001c0002t0031 a0001c0002t0096 a0001c0004t0086	a0001c0001t0090g0019 a0001c0002t0031g0228 a0001c0002t0096g0229 others(1): Show a0001c0001t0090g0019 a0001c0002t0031g0228 a0001c0002t0096g0229 a0001c0004t0086g0230	4	244	0.0164	-17	c.-99 others(34): Show c.-99-2004_-99-1988delTATTTATTTATTTATTT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31689900	AGGGAACC others(10): Show AGGGAACCTCAAAGTGAG	A A	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0148 a0001c0001t0016g0148	1	244	0.0041	-17	c.-99 others(36): Show c.-99-32840_-99-32824delCTCACTTTGAGGTTCCC	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31753685	AGATATAT others(10): Show AGATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG00741.hp2 others(52): Show HG00099.hp2 HG00642.hp1 HG00741.hp2 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01261.hp1 HG01884.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02451.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03017.hp1 HG03453.hp1 HG03579.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18943.hp1 NA18944.hp1 NA18950.hp1 NA18960.hp2 NA18966.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp2 NA18984.hp2 NA18989.hp2 NA18990.hp1 NA19005.hp2 NA19030.hp2 NA19085.hp1 NA19090.hp1 NA20300.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0009 a0002c0003 a0002c0005 a0002c0007 a0002c0008 a0002c0014 a0005c0020 a0006c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0037 a0001c0001t0054 a0001c0001t0056 a0001c0001t0065 a0001c0001t0078 a0001c0001t0079 a0001c0001t0090 a0001c0002t0001 a0001c0002t0022 a0001c0002t0023 a0001c0002t0053 a0001c0004t0010 a0001c0004t0048 a0001c0006t0049 a0001c0009t0067 a0002c0003t0003 a0002c0003t0008 a0002c0003t0069 a0002c0003t0099 a0002c0005t0038 a0002c0007t0003 a0002c0007t0008 a0002c0008t0009 a0002c0008t0017 a0002c0014t0094 a0005c0020t0075 a0006c0019t0044	a0001c0001t0001g0030 a0001c0001t0001g0128 a0001c0001t0002g0203 others(52): Show a0001c0001t0001g0030 a0001c0001t0001g0128 a0001c0001t0002g0203 a0001c0001t0004g0051 a0001c0001t0004g0103 a0001c0001t0007g0204 a0001c0001t0011g0043 a0001c0001t0037g0078 a0001c0001t0054g0223 a0001c0001t0056g0044 a0001c0001t0065g0059 a0001c0001t0078g0035 a0001c0001t0079g0046 a0001c0001t0090g0019 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0042 a0001c0002t0001g0045 a0001c0002t0001g0053 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0062 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0068 a0001c0002t0001g0161 a0001c0002t0001g0188 a0001c0002t0022g0050 a0001c0002t0022g0094 a0001c0002t0023g0209 a0001c0002t0053g0226 a0001c0004t0010g0210 a0001c0004t0048g0070 a0001c0006t0049g0211 a0001c0009t0067g0231 a0002c0003t0003g0029 a0002c0003t0003g0031 a0002c0003t0003g0052 a0002c0003t0003g0069 a0002c0003t0003g0164 a0002c0003t0008g0039 a0002c0003t0069g0160 a0002c0003t0099g0244 a0002c0005t0038g0077 a0002c0007t0003g0061 a0002c0007t0008g0041 a0002c0007t0008g0064 a0002c0008t0009g0084 a0002c0008t0017g0090 a0002c0014t0094g0095 a0005c0020t0075g0054 a0006c0019t0044g0056	55	242	0.2273	-17	c.-99 others(36): Show c.-99-96625_-99-96609delATATATATATATATATC	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31874391	ACTGGTTG others(10): Show ACTGGTTGCCAGTGGCGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0009 a0002c0008t0009	a0002c0008t0009g0084 a0002c0008t0009g0084	1	244	0.0041	-17	c.-40 others(28): Show c.-4001_-3985delCCGCCACTGGCAACCAG	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding		3719		chr15	TogoVar
OTULIN_chr5_14659718_14704850	14703324	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0105 a0001c0001t0039g0105	1	19	0.0526	-17	c.10 others(30): Show c.10277_*10293delAAAAAAAAAAAAAAAAA	OTULIN	ENSG00000154124.6	transcript	ENST00000284274.5	protein_coding		3475		chr5	TogoVar
OVCA2_chr17_2037022_2048425	2038147	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	75	0.0133	-17	c.-39 others(28): Show c.-3900_-3884delAAAAAAAAAAAAAAAAA	OVCA2	ENSG00000262664.3	transcript	ENST00000572195.3	protein_coding		3874		chr17	TogoVar
OXA1L_chr14_22761688_22778042	22772503	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 HG03195.hp1 HG03540.hp1 HG01243.hp1 HG03195.hp1 HG03540.hp1	a0005 a0007 a0005 a0007	a0005c0005 a0007c0009 a0005c0005 a0007c0009	a0005c0005t0242 a0005c0005t0244 a0007c0009t0249 a0005c0005t0242 a0005c0005t0244 a0007c0009t0249	a0005c0005t0242g0008 a0005c0005t0244g0008 a0007c0009t0249g0008 a0005c0005t0242g0008 a0005c0005t0244g0008 a0007c0009t0249g0008	3	467	0.0064	-17	c.94 others(26): Show c.947_*963delAAAAAAAAAAAAAAACA	OXA1L	ENSG00000155463.14	transcript	ENST00000612549.6	protein_coding	10/10	947	INFO_REALIGN_3_PRIME	chr14	TogoVar
OXR1_chr8_106265190_106757694	106288695	TTATATAT others(10): Show TTATATATTTATATATTA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01256.hp1 HG01257.hp1 others(23): Show HG00741.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01433.hp1 HG02004.hp1 HG02071.hp1 HG02135.hp2 HG02148.hp1 HG03453.hp2 HG03831.hp1 HG03831.hp2 HG06807.hp2 NA18522.hp2 NA18939.hp2 NA18941.hp2 NA18944.hp1 NA18973.hp2 NA18974.hp1 NA18985.hp1 NA18991.hp2 NA19012.hp2 NA19030.hp1 NA19079.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 others(23): Show a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0095 a0001c0001t0001g0112 a0001c0001t0001g0164 a0001c0001t0003g0049 a0001c0001t0003g0055 a0001c0001t0003g0070 a0001c0001t0003g0141 a0001c0001t0004g0063 a0001c0002t0001g0050 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0059 a0001c0002t0001g0064 a0001c0002t0001g0065	26	170	0.1529	-17	c.-13 others(38): Show c.-139+18344_-139+18360delTATATATATTTATATAT	OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
OXR1_chr8_106265190_106757694	106339510	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01258.hp2 others(13): Show HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01433.hp1 HG02071.hp1 HG02148.hp1 NA18522.hp2 NA18939.hp2 NA18941.hp2 NA18944.hp1 NA18973.hp2 NA18974.hp1 NA18991.hp2 NA19012.hp2 NA19030.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 others(13): Show a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0112 a0001c0001t0003g0055 a0001c0002t0001g0050 a0001c0002t0001g0053 a0001c0002t0001g0059 a0001c0002t0001g0064 a0001c0002t0001g0065	16	167	0.0958	-17	c.-13 others(38): Show c.-138-19964_-138-19948delAAAAAAAAATATATATA	OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
OXR1_chr8_106265190_106757694	106339520	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02257.hp2 HG00738.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0115 a0001c0001t0001g0116	2	142	0.0141	-17	c.-13 others(38): Show c.-138-19955_-138-19939delTATATATATATATATAT	OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	1/16			chr8	TogoVar
OXSR1_chr3_38160537_38260484	38184903	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp2 NA18980.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0146 a0001c0001t0003g0081 a0001c0001t0001g0146 a0001c0001t0003g0081	2	44	0.0455	-17	c.183 others(34): Show c.183+1820_183+1836delTTTTTTTTTTTTTTTTT	OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
OXTR_chr3_8745381_8774613	8745478	AAGCGGGT others(10): Show AAGCGGGTGGCTTCTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01515.hp2 HG01517.hp1 others(2): Show HG00733.hp2 HG01515.hp2 HG01517.hp1 HG02165.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0045 a0001c0001t0049 a0001c0004t0019 others(1): Show a0001c0001t0045 a0001c0001t0049 a0001c0004t0019 a0002c0003t0019	a0001c0001t0045g0114 a0001c0001t0049g0147 a0001c0004t0019g0060 others(1): Show a0001c0001t0045g0114 a0001c0001t0049g0147 a0001c0004t0019g0060 a0002c0003t0019g0215	5	472	0.0106	-17	c.74 others(28): Show c.7482_*7498delCACAGAAGCCACCCGCT	OXTR	ENSG00000180914.11	transcript	ENST00000316793.8	protein_coding		4902		chr3	TogoVar
P2RX4_chr12_121205129_121239106	121212374	TCAAGACC others(10): Show TCAAGACCAGCCTGGACA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(145): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp2 HG02559.hp1 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp2 HG06807.hp1 NA18906.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18952.hp2 NA18954.hp2 NA18956.hp2 NA18962.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18987.hp1 NA18989.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp2 NA19055.hp2 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19081.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0003 a0001c0004 a0001c0005 others(6): Show a0001c0003 a0001c0004 a0001c0005 a0001c0010 a0002c0002 a0002c0009 a0003c0006 a0004c0007 a0005c0008	a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 others(7): Show a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0005t0003 a0001c0010t0001 a0002c0002t0001 a0002c0009t0001 a0003c0006t0001 a0004c0007t0001 a0005c0008t0001	a0001c0003t0001g0015 a0001c0003t0001g0035 a0001c0003t0001g0036 others(104): Show a0001c0003t0001g0015 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0038 a0001c0003t0001g0039 a0001c0003t0001g0041 a0001c0003t0001g0042 a0001c0003t0001g0046 a0001c0003t0001g0210 a0001c0003t0001g0212 a0001c0003t0001g0213 a0001c0003t0001g0229 a0001c0003t0001g0230 a0001c0003t0001g0231 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0237 a0001c0003t0001g0238 a0001c0003t0001g0241 a0001c0003t0001g0242 a0001c0003t0001g0243 a0001c0003t0001g0271 a0001c0003t0001g0285 a0001c0003t0001g0286 a0001c0003t0001g0287 a0001c0003t0001g0288 a0001c0003t0001g0289 a0001c0003t0001g0290 a0001c0003t0001g0291 a0001c0003t0001g0292 a0001c0003t0001g0293 a0001c0004t0001g0008 a0001c0004t0001g0016 a0001c0004t0001g0033 a0001c0004t0001g0034 a0001c0004t0001g0214 a0001c0004t0001g0215 a0001c0004t0001g0216 a0001c0004t0001g0217 a0001c0004t0001g0218 a0001c0004t0001g0219 a0001c0004t0001g0220 a0001c0004t0001g0221 a0001c0004t0001g0222 a0001c0004t0001g0223 a0001c0004t0001g0224 a0001c0004t0001g0225 a0001c0004t0001g0226 a0001c0004t0001g0227 a0001c0004t0001g0228 a0001c0004t0001g0233 a0001c0004t0001g0240 a0001c0005t0001g0234 a0001c0005t0003g0037 a0001c0010t0001g0239 a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0009 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0009t0001g0005 a0003c0006t0001g0032 a0003c0006t0001g0232 a0004c0007t0001g0040 a0005c0008t0001g0244	148	386	0.3834	-17	c.134 others(34): Show c.134+2094_134+2110delCAAGACCAGCCTGGACA	P2RX4	ENSG00000135124.16	transcript	ENST00000337233.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX4_chr12_121205129_121239106	121219847	GATAGATA others(10): Show GATAGATAGATAGATAGA	G G	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0284 a0002c0002t0001g0284	1	386	0.0026	-17	c.283 others(34): Show c.283-2065_283-2049delATAGATAGATAGATAGA	P2RX4	ENSG00000135124.16	transcript	ENST00000337233.9	protein_coding	2/11			chr12	TogoVar
P2RX5_chr17_3668227_3701155	3674298	AAAGCGAG others(10): Show AAAGCGAGACTCCGTCTC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	360	0.0028	-17	c.126 others(34): Show c.1260-438_1260-422delGAGACGGAGTCTCGCTT	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	11/11			chr17	TogoVar
P2RY10_chrX_78940391_78968727	78965405	TTCTTTCT others(10): Show TTCTTTCTTTCTTTCTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01516.hp2 HG01891.hp2 others(8): Show HG00741.hp1 HG01516.hp2 HG01891.hp2 HG02280.hp2 HG02698.hp1 HG02976.hp1 HG03017.hp1 HG03834.hp1 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0005 a0004c0005t0001 a0001c0001t0001 a0001c0001t0005 a0004c0005t0001	a0001c0001t0001g0012 a0001c0001t0001g0051 a0001c0001t0001g0058 others(5): Show a0001c0001t0001g0012 a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0005g0012 a0001c0001t0005g0039 a0001c0001t0005g0040 a0004c0005t0001g0012	11	320	0.0344	-17	c.38 others(28): Show c.3866_*3882delTCTTTCTTTCTTTCTTC	P2RY10	ENSG00000078589.13	transcript	ENST00000171757.3	protein_coding		1679		chrX	TogoVar
P2RY12_chr3_151331843_151389753	151343746	GTGGCTTA others(10): Show GTGGCTTAACTGGTTTGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00609.hp1 others(142): Show HG00099.hp2 HG00408.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01346.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02055.hp2 HG02074.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG04115.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18948.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18964.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18974.hp2 NA18986.hp2 NA18987.hp1 NA18991.hp1 NA18992.hp1 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp2 NA19078.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0004c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0002t0002 a0001c0002t0007 a0001c0002t0008 a0001c0009t0003 a0004c0006t0003	a0001c0001t0002g0267 a0001c0001t0003g0010 a0001c0001t0003g0011 others(111): Show a0001c0001t0002g0267 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0044 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0064 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0130 a0001c0001t0003g0141 a0001c0001t0003g0145 a0001c0001t0003g0161 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0219 a0001c0001t0003g0223 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0246 a0001c0001t0003g0254 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0309 a0001c0001t0013g0052 a0001c0001t0014g0224 a0001c0001t0015g0193 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0022 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0040 a0001c0002t0002g0055 a0001c0002t0002g0066 a0001c0002t0002g0078 a0001c0002t0002g0098 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0131 a0001c0002t0002g0135 a0001c0002t0002g0151 a0001c0002t0002g0154 a0001c0002t0002g0175 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0212 a0001c0002t0002g0214 a0001c0002t0002g0218 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0230 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0253 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0264 a0001c0002t0002g0266 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0002t0007g0099 a0001c0002t0007g0294 a0001c0002t0008g0054 a0001c0009t0003g0247 a0004c0006t0003g0053	145	394	0.3680	-17	c.-17 others(36): Show c.-179-3003_-179-2987delACAAACCAGTTAAGCCA	P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2			chr3	TogoVar
P2RY8_chrX_1457581_1542185	1469074	CCCTTCCC others(10): Show CCCTTCCCTCTCTCCTCT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp2 HG01175.hp1 others(10): Show HG00639.hp1 HG00733.hp2 HG01175.hp1 HG01928.hp1 HG01952.hp2 HG01978.hp2 HG02004.hp2 HG02148.hp1 HG02148.hp2 HG02273.hp2 HG02300.hp2 HG03491.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 a0001c0001 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0001t0030 a0002c0002t0004 others(2): Show a0001c0001t0001 a0001c0001t0030 a0002c0002t0004 a0002c0002t0021 a0002c0005t0006	a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0036 others(10): Show a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0071 a0001c0001t0001g0084 a0001c0001t0001g0110 a0001c0001t0030g0010 a0002c0002t0004g0008 a0002c0002t0004g0012 a0002c0002t0004g0025 a0002c0002t0021g0109 a0002c0005t0006g0046	13	109	0.1193	-17	c.-24 others(34): Show c.-24-2509_-24-2493delAGAGGAGAGAGGGAAGG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P2RY8_chrX_1457581_1542185	1515798	AGGAGGTG others(10): Show AGGAGGTGAGAGCTCTGG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	113	0.0088	-17	c.-25 others(36): Show c.-25+21106_-25+21122delCCAGAGCTCTCACCTCC	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P3H2_chr3_189951728_190125897	190041090	TCTATATA others(10): Show TCTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01361.hp2 HG01433.hp1 others(2): Show HG01257.hp2 HG01361.hp2 HG01433.hp1 HG02300.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 a0001c0003t0001	a0001c0001t0001g0112 a0001c0001t0001g0228 a0001c0001t0004g0297 others(2): Show a0001c0001t0001g0112 a0001c0001t0001g0228 a0001c0001t0004g0297 a0001c0002t0003g0227 a0001c0003t0001g0225	5	302	0.0166	-17	c.481 others(36): Show c.481-45665_481-45649delTATATATATATATATAG	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P4HA1_chr10_73002217_73101866	73006205	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0085 a0001c0001t0005g0085	1	80	0.0125	-17	c.20 others(28): Show c.2000_*2016delTTTTTTTTTTTTTTTTT	P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding		1011		chr10	TogoVar
P4HA1_chr10_73002217_73101866	73037555	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp2 HG03225.hp1 others(1): Show HG02258.hp2 HG02559.hp2 HG03225.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0102 a0001c0001t0006g0104 a0001c0001t0006g0106 others(1): Show a0001c0001t0006g0102 a0001c0001t0006g0104 a0001c0001t0006g0106 a0001c0001t0006g0108	4	228	0.0175	-17	c.114 others(36): Show c.1149-7202_1149-7186delATATATATATATATATA	P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	9/14			chr10	TogoVar
P4HA1_chr10_73002217_73101866	73059423	TTAAAAAA others(10): Show TTAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01074.hp2 HG01123.hp1 others(11): Show HG00642.hp2 HG01074.hp2 HG01123.hp1 HG01346.hp2 HG02257.hp2 HG02723.hp2 HG02818.hp1 HG02965.hp1 HG02976.hp1 HG03453.hp2 HG03579.hp1 NA18522.hp1 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0004 a0001c0001t0005 a0001c0002t0004	a0001c0001t0005g0085 a0001c0001t0005g0086 a0001c0001t0005g0087 others(11): Show a0001c0001t0005g0085 a0001c0001t0005g0086 a0001c0001t0005g0087 a0001c0001t0005g0088 a0001c0001t0005g0089 a0001c0001t0005g0090 a0001c0001t0005g0092 a0001c0001t0005g0149 a0001c0001t0005g0150 a0001c0001t0005g0151 a0001c0001t0005g0225 a0001c0001t0005g0226 a0001c0001t0005g0231 a0001c0002t0004g0069	14	158	0.0886	-17	c.464 others(34): Show c.464-5850_464-5834delTTTTTTTTTTTTTTTTA	P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	5/14			chr10	TogoVar
P4HA1_chr10_73002217_73101866	73093870	AAAAATAT others(10): Show AAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA20129.hp2 HG00733.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0002g0036 a0001c0001t0002g0039	2	206	0.0097	-17	c.-33 others(34): Show c.-33+2879_-33+2895delATATATATATATATTTT	P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	1/14			chr10	TogoVar
P4HA1_chr10_73002217_73101866	73093872	AAATATAT others(10): Show AAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	204	0.0049	-17	c.-33 others(34): Show c.-33+2877_-33+2893delATATATATATATATATT	P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	1/14			chr10	TogoVar
P4HA1_chr10_73002217_73101866	73093874	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0091 a0001c0001t0014g0091	1	224	0.0045	-17	c.-33 others(34): Show c.-33+2875_-33+2891delATATATATATATATATA	P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	1/14			chr10	TogoVar
PA2G4_chr12_56099559_56118910	56116148	AAAAAGAA others(10): Show AAAAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02630.hp2 HG03041.hp2 others(2): Show HG02145.hp1 HG02630.hp2 HG03041.hp2 HG03209.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0029 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0049 a0001c0005t0001g0011	5	349	0.0143	-17	c.32 others(28): Show c.3261_*3277delAAAAGAAAGAAAGAAAG	PA2G4	ENSG00000170515.14	transcript	ENST00000303305.11	protein_coding		2239		chr12	TogoVar
PABPC3_chr13_25091136_25104254	25100237	GTTTGCAC others(10): Show GTTTGCACCGTGTTAGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	456	0.0022	-17	c.21 others(28): Show c.2144_*2160delTTTGCACCGTGTTAGCC	PABPC3	ENSG00000151846.9	transcript	ENST00000281589.5	protein_coding		984		chr13	TogoVar
PABPN1_chr14_23316457_23331163	23328990	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp2 NA19063.hp1 NA18962.hp2 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0019 a0001c0002t0001 a0001c0002t0019	a0001c0002t0001g0001 a0001c0002t0019g0001 a0001c0002t0001g0001 a0001c0002t0019g0001	2	124	0.0161	-17	c.37 others(28): Show c.3705_*3721delTTTTTTTTTTTTTTTTT	PABPN1	ENSG00000100836.11	transcript	ENST00000216727.9	protein_coding		2828		chr14	TogoVar
PACRG_chr6_162722974_163320500	163269914	GAAAGAAA others(10): Show GAAAGAAAGAAAGAAAAC	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA18971.hp2 NA19060.hp2 HG01346.hp1 NA18971.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0100 a0001c0001t0001g0114 a0001c0001t0014g0109 a0001c0001t0001g0100 a0001c0001t0001g0114 a0001c0001t0014g0109	3	126	0.0238	-17	c.614 others(36): Show c.614-44897_614-44881delACAAAGAAAGAAAGAAA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACS1_chr11_66065272_66249744	66156236	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	319	0.0031	-17	c.357 others(36): Show c.357-37249_357-37233delTATATATATATATATAT	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	1/23			chr11	TogoVar
PACS1_chr11_66065272_66249744	66156238	ATATATAT others(10): Show ATATATATATATATATAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	320	0.0031	-17	c.357 others(36): Show c.357-37246_357-37230delATATATATATATATAGT	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PACSIN3_chr11_47172522_47191434	47174367	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00642.hp1 HG01070.hp2 others(24): Show HG00438.hp2 HG00642.hp1 HG01070.hp2 HG01081.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01496.hp1 HG02004.hp1 HG02145.hp1 HG02602.hp1 HG02965.hp1 HG03579.hp2 HG03654.hp2 HG03710.hp2 NA18906.hp1 NA18942.hp2 NA18960.hp1 NA18964.hp1 NA18972.hp2 NA18978.hp2 NA18990.hp2 NA19083.hp1 NA19090.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0007 a0001c0001 a0002c0002 a0005c0007	a0001c0001t0001 a0002c0002t0001 a0005c0007t0001 a0001c0001t0001 a0002c0002t0001 a0005c0007t0001	a0001c0001t0001g0005 a0001c0001t0001g0035 a0001c0001t0001g0036 others(4): Show a0001c0001t0001g0005 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0002c0002t0001g0040 a0005c0007t0001g0039	27	28	0.9643	-17	c.35 others(28): Show c.3547_*3563delAAAAAAAAAAAAAAAAA	PACSIN3	ENSG00000165912.16	transcript	ENST00000298838.11	protein_coding		3154		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172381	TATATATA others(10): Show TATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 NA18969.hp2 HG01261.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0078 a0001c0001t0007 a0001c0001t0078	a0001c0001t0007g0211 a0001c0001t0078g0205 a0001c0001t0007g0211 a0001c0001t0078g0205	2	424	0.0047	-17	c.46 others(28): Show c.4683_*4699delATATATATATATATATA	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1337		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172387	TATATATA others(10): Show TATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG03209.hp2 NA20300.hp1 HG02486.hp1 HG03209.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0058 a0001c0001t0031 a0001c0001t0058	a0001c0001t0031g0137 a0001c0001t0031g0140 a0001c0001t0058g0138 a0001c0001t0031g0137 a0001c0001t0031g0140 a0001c0001t0058g0138	3	430	0.0070	-17	c.46 others(28): Show c.4689_*4705delATATATATATATATATA	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1343		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172394	ATATATAT others(10): Show ATATATATATATTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	427	0.0023	-17	c.46 others(28): Show c.4696_*4712delTATATATATATTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1350		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172402	ATATTTTT others(10): Show ATATTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0109 a0001c0001t0030g0109	1	403	0.0025	-17	c.47 others(28): Show c.4704_*4720delTATTTTTTTTTTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1358		chr11	TogoVar
PAGR1_chr16_29811152_29827489	29815724	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	85	0.0118	-17	c.-80 others(26): Show c.-801_-785delAAAAAAAAAAAAAAAAA	PAGR1	ENSG00000280789.2	transcript	ENST00000320330.8	protein_coding		427		chr16	TogoVar
PAICS_chr4_56431260_56469578	56438385	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	378	0.0026	-17	c.16+ others(32): Show c.16+2058_16+2074delTATATATATATATATAT	PAICS	ENSG00000128050.9	transcript	ENST00000512576.3	protein_coding	1/8			chr4	TogoVar
PAICS_chr4_56431260_56469578	56467806	GGCGCGCG others(10): Show GGCGCGCGAGACCACCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0008 a0001c0001t0006g0008	2	378	0.0053	-17	c.82 others(28): Show c.8269_*8285delGCGCGCGAGACCACCTC	PAICS	ENSG00000128050.9	transcript	ENST00000512576.3	protein_coding		3229		chr4	TogoVar
PAIP2_chr5_139336854_139374717	139338723	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0226 a0001c0001t0008g0226	1	120	0.0083	-17	c.-32 others(28): Show c.-3283_-3267delAAAAAAAAAAAAAAAAA	PAIP2	ENSG00000120727.13	transcript	ENST00000265192.9	protein_coding		3130		chr5	TogoVar
PAK1IP1_chr6_10689972_10714782	10705537	CTGCAGGA others(10): Show CTGCAGGAGAAGTGAATT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02922.hp2 HG03139.hp2 others(2): Show HG01884.hp1 HG02922.hp2 HG03139.hp2 HG03471.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0053 a0002c0002t0001g0014 a0002c0002t0001g0053	5	254	0.0197	-17	c.740 others(32): Show c.740+694_740+710delTGCAGGAGAAGTGAATT	PAK1IP1	ENSG00000111845.5	transcript	ENST00000379568.4	protein_coding	7/9			chr6	TogoVar
PAK1_chr11_77317017_77479094	77429056	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02074.hp2 HG02165.hp1 others(2): Show HG01109.hp1 HG02074.hp2 HG02165.hp1 NA19074.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0054 others(2): Show a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0054 a0001c0001t0002g0074 a0001c0001t0002g0076	5	120	0.0417	-17	c.-21 others(36): Show c.-21-36532_-21-36516delTTTTTTTTTTTTTTTTT	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14			chr11	TogoVar
PAK1_chr11_77317017_77479094	77429078	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03130.hp1 HG03139.hp1 others(3): Show HG02717.hp1 HG03130.hp1 HG03139.hp1 HG03579.hp2 NA18947.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0233 a0001c0001t0003g0242 a0001c0001t0003g0243 others(3): Show a0001c0001t0003g0233 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0251 a0001c0001t0003g0254 a0001c0001t0003g0256	6	300	0.0200	-17	c.-21 others(36): Show c.-21-36554_-21-36538delGTTTTTTTTTTTTTTTT	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14			chr11	TogoVar
PAK2_chr3_196734857_196837647	196826523	TTTTTTTA others(10): Show TTTTTTTAATGATATGTA	T T	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0037 a0001c0001t0004g0037	1	176	0.0057	-17	c.135 others(34): Show c.1351-671_1351-655delTTTTTAATGATATGTAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr3	TogoVar

Search by Variant

Search

Search Results