Joint Open Genome and Omics Platform (JoGo)

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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
OSCAR_chr19_54089668_54105803	54099229	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02129.hp1 HG02135.hp2 others(4): Show HG00597.hp1 HG02129.hp1 HG02135.hp2 HG02155.hp1 NA18941.hp1 NA18947.hp2 NA18957.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0050 a0001c0001t0001g0116 a0001c0001t0001g0117 others(4): Show a0001c0001t0001g0050 a0001c0001t0001g0116 a0001c0001t0001g0117 a0002c0002t0001g0049 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120	7	443	0.0158	26	c.70+ others(39): Show c.70+518_70+519insAAAAAAAAAAAAAAAAAAAAAAAAAA	OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding	2/4			chr19	TogoVar
OSER1_chr20_44190939_44215771	44215754	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 NA18612.hp1 NA18970.hp2 others(3): Show HG02155.hp1 NA18612.hp1 NA18970.hp2 NA19002.hp2 NA19082.hp2 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0004 a0001c0001t0001 a0001c0001t0003 a0002c0002t0004	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0019 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0003g0237 a0002c0002t0004g0194	6	444	0.0135	26	c.-51 others(37): Show c.-5101_-5100insAAAAAAAAAAAAAAAAAAAAAAAAAA	OSER1	ENSG00000132823.11	transcript	ENST00000255174.3	protein_coding		4984		chr20	TogoVar
OSER1_chr20_44190939_44215771	44215758	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0217 a0001c0001t0038g0217	1	444	0.0023	26	c.-51 others(37): Show c.-5105_-5104insAAAAAAAAAAAAAAAAAAAAAAAAAA	OSER1	ENSG00000132823.11	transcript	ENST00000255174.3	protein_coding		4988		chr20	TogoVar
OSGIN1_chr16_83948240_83971332	83951890	T T	TCCCTCCC others(19): Show TCCCTCCCTCCCTCCTTCCTCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0116 a0001c0001t0010g0116	1	350	0.0029	26	c.-15 others(37): Show c.-1513_-1512insCCCTCCCTCCCTCCTTCCTCTCCCTC	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1349		chr16	TogoVar
OSMR_chr5_38841012_38940641	38898950	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0097 a0005c0005t0001g0097	1	382	0.0026	26	c.992 others(43): Show c.992-4908_992-4907insTTTTTTTTTTTTTTTTTTTTTTTTTT	OSMR	ENSG00000145623.13	transcript	ENST00000274276.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
OSTN_chr3_191194241_191270615	191200854	A A	AAGAATAG others(19): Show AAGAATAGACTACGTTAGTAGCAGAAT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	402	0.0025	26	c.-1+ others(41): Show c.-1+1548_-1+1549insGAATAGACTACGTTAGTAGCAGAATA	OSTN	ENSG00000188729.7	transcript	ENST00000682035.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
OTOF_chr2_26452203_26563756	26476649	T T	TCCCCCAC others(19): Show TCCCCCACCTCCTTCCCCACCCCCTTC	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0096 a0001c0020t0001g0096	1	284	0.0035	26	c.267 others(43): Show c.2676+241_2676+242insGAAGGGGGTGGGGAAGGAGGTGGGGG	OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	22/46			chr2	TogoVar
OTOGL_chr12_80094537_80385880	80108936	G G	GTGTGTAT others(19): Show GTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0011 a0011	a0011c0007 a0011c0007	a0011c0007t0002 a0011c0007t0002	a0011c0007t0002g0148 a0011c0007t0002g0148	1	168	0.0060	26	c.-20 others(43): Show c.-20+9332_-20+9333insGTGTATATATATATATATATATATAT	OTOGL	ENSG00000165899.12	transcript	ENST00000547103.7	protein_coding	1/58		INFO_REALIGN_3_PRIME	chr12	TogoVar
OTOP2_chr17_74919273_74938912	74934289	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	432	0.0023	26	c.74 others(35): Show c.744_*745insTGTGTGTGTGTGTGTGTGTGTGTGTG	OTOP2	ENSG00000183034.13	transcript	ENST00000331427.9	protein_coding		378		chr17	TogoVar
OTOP3_chr17_74930898_74954992	74934289	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0157 a0002c0001t0001g0157	1	468	0.0021	26	c.-16 others(37): Show c.-1633_-1632insTGTGTGTGTGTGTGTGTGTGTGTGTG	OTOP3	ENSG00000182938.7	transcript	ENST00000328801.6	protein_coding		1608		chr17	TogoVar
OTUD6A_chrX_70057457_70069179	70061272	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG02258.hp1 HG02615.hp2 HG01515.hp1 HG02258.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0001g0000 a0001c0001t0002g0000	3	336	0.0089	26	c.-12 others(37): Show c.-1253_-1252insAAAAAAAAAAAAAAAAAAAAAAAAAA	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding		1184		chrX	TogoVar
OTUD7A_chr15_31470398_31875673	31610617	A A	ATATATAT others(19): Show ATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0182 a0001c0001t0058g0182	1	244	0.0041	26	c.152 others(45): Show c.152-40421_152-40420insAAAAAAAAAAAATATATATATATATA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	3/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31610617	A A	ATATATAT others(19): Show ATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA19083.hp2 HG01978.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0015 a0001c0001t0013 a0001c0001t0015	a0001c0001t0013g0155 a0001c0001t0015g0174 a0001c0001t0013g0155 a0001c0001t0015g0174	2	244	0.0082	26	c.152 others(45): Show c.152-40421_152-40420insAAAAAAAAAAAAAAAATATATATATA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	3/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31796142	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01928.hp2 HG00741.hp1 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0112 a0001c0001t0006g0115 a0001c0001t0006g0112 a0001c0001t0006g0115	2	244	0.0082	26	c.-10 others(47): Show c.-100+74364_-100+74365insACACACACACACACACACACACAC AC	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31860622	G G	GATAAATA others(19): Show GATAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03225.hp1 HG03139.hp2 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0006 a0001c0004 a0002c0006	a0001c0004t0051 a0002c0006t0016 a0001c0004t0051 a0002c0006t0016	a0001c0004t0051g0004 a0002c0006t0016g0005 a0001c0004t0051g0004 a0002c0006t0016g0005	2	244	0.0082	26	c.-10 others(45): Show c.-100+9884_-100+9885insATATATATATATATATATATATTTAT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31860677	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02559.hp2 HG03195.hp1 HG01975.hp1 HG02559.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0002t0031 a0001c0002t0096 a0001c0001t0016 a0001c0002t0031 a0001c0002t0096	a0001c0001t0016g0153 a0001c0002t0031g0228 a0001c0002t0096g0229 a0001c0001t0016g0153 a0001c0002t0031g0228 a0001c0002t0096g0229	3	244	0.0123	26	c.-10 others(45): Show c.-100+9829_-100+9830insTATATATATATATATATATATATATA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31860677	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0017 a0002c0006t0017	a0002c0006t0017g0238 a0002c0006t0017g0238	1	244	0.0041	26	c.-10 others(45): Show c.-100+9829_-100+9830insTATATATATATATATATATATATACA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31860677	G G	GTGTGTAT others(19): Show GTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0076 a0003c0010t0076	a0003c0010t0076g0105 a0003c0010t0076g0105	1	244	0.0041	26	c.-10 others(45): Show c.-100+9829_-100+9830insTATATATATATATATATATATACACA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OTULINL_chr5_14576792_14621180	14618408	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0229 a0001c0001t0017g0229	1	380	0.0026	26	c.80 others(37): Show c.8094_*8095insACACACACACACACACACACACACAC	OTULINL	ENSG00000145569.6	transcript	ENST00000274217.4	protein_coding		2229		chr5	TogoVar
OTULINL_chr5_14576792_14621180	14618408	T T	TATACACA others(19): Show TATACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0009 a0001c0001t0017g0009	1	380	0.0026	26	c.80 others(37): Show c.8094_*8095insATACACACACACACACACACACACAC	OTULINL	ENSG00000145569.6	transcript	ENST00000274217.4	protein_coding		2229		chr5	TogoVar
OVCH2_chr11_7684437_7711477	7685441	A A	ACTCAGGA others(19): Show ACTCAGGATACCTTCCACACCTAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0017 a0017	a0017c0016 a0017c0016	a0017c0016t0004 a0017c0016t0004	a0017c0016t0004g0265 a0017c0016t0004g0265	1	476	0.0021	26	c.41 others(37): Show c.4192_*4193insCTTCTAGGTGTGGAAGGTATCCTGAG	OVCH2	ENSG00000183378.13	transcript	ENST00000533663.6	protein_coding		3995		chr11	TogoVar
OXSR1_chr3_38160537_38260484	38161545	A A	ATGTCATA others(19): Show ATGTCATATATTATGTATATTTCATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0225 a0002c0002t0002g0225	1	248	0.0040	26	c.-43 others(37): Show c.-4332_-4331insTGTCATATATTATGTATATTTCATAT	OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding		3991		chr3	TogoVar
OXSR1_chr3_38160537_38260484	38165547	T T	TGGGGCTG others(19): Show TGGGGCTGGGGTGGAGGGCGGGACAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00323.hp2 HG01106.hp1 HG00323.hp2 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0239 a0001c0001t0011g0240 a0001c0001t0011g0239 a0001c0001t0011g0240	2	248	0.0081	26	c.-32 others(35): Show c.-320_-295dupGTGGAGGGCGGGACAGAGGGGCTGGG	OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding	1/18	294	INFO_REALIGN_3_PRIME	chr3	TogoVar
OXTR_chr3_8745381_8774613	8746799	T T	TCACACAC others(19): Show TCACACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG03098.hp2 HG03540.hp2 HG02559.hp1 HG03098.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0008 a0001c0004t0075 a0001c0002t0008 a0001c0004t0075	a0001c0002t0008g0028 a0001c0002t0008g0179 a0001c0004t0075g0302 a0001c0002t0008g0028 a0001c0002t0008g0179 a0001c0004t0075g0302	3	474	0.0063	26	c.61 others(37): Show c.6177_*6178insTGTGTGTGTGTGTGTGTGTGTGTGTG	OXTR	ENSG00000180914.11	transcript	ENST00000316793.8	protein_coding		3581		chr3	TogoVar
P2RX1_chr17_3891592_3921465	3918186	A A	AGGGAGGA others(19): Show AGGGAGGAAGGAAGGGAGGAAGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG03490.hp2 HG01943.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0078 a0001c0001t0004g0125 a0001c0001t0003g0078 a0001c0001t0004g0125	2	378	0.0053	26	c.-19 others(37): Show c.-1962_-1961insCTTCCCTTCCTCCCTTCCTTCCTCCC	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding		1722		chr17	TogoVar
P2RX1_chr17_3891592_3921465	3918186	A A	AGGGAGGG others(19): Show AGGGAGGGAGGGAGGGAGGAAGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0149 a0001c0001t0003g0149	1	378	0.0027	26	c.-19 others(37): Show c.-1962_-1961insCTTCCCTTCCTCCCTCCCTCCCTCCC	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding		1722		chr17	TogoVar
P2RX2_chr12_132613776_132627388	132618236	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	386	0.0026	26	c.-58 others(35): Show c.-581_-580insAGAAAGAAAGAAAGAAAGAAAGAAAG	P2RX2	ENSG00000187848.15	transcript	ENST00000643471.2	protein_coding		539		chr12	TogoVar
P2RX4_chr12_121205129_121239106	121212824	A A	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0243 a0001c0004t0001g0243	1	388	0.0026	26	c.134 others(43): Show c.134+2527_134+2528insATATATATATATATATATATATTTTT	P2RX4	ENSG00000135124.16	transcript	ENST00000337233.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0111 a0001c0001t0034g0111	1	366	0.0027	26	c.125 others(43): Show c.125+2929_125+2930insAAAAAAAAAATATATATATATATATA	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(19): Show AAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	366	0.0027	26	c.125 others(43): Show c.125+2929_125+2930insAAAAAAAATATATATATATATATATA	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0352 a0006c0006t0001g0352	1	366	0.0027	26	c.125 others(43): Show c.125+2929_125+2930insAAAATATATATATATATATATATATA	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RY10_chrX_78940391_78968727	78957357	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0099 a0001c0001t0003g0099	1	322	0.0031	26	c.-13 others(43): Show c.-13-3145_-13-3120dupCACACACACACACACACACACACACA	P2RY10	ENSG00000078589.13	transcript	ENST00000171757.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
P2RY6_chr11_73267338_73303625	73277336	A A	ACTCCTGA others(19): Show ACTCCTGACCTCAAGTGATCCACCCAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp1 HG01106.hp2 others(66): Show HG00741.hp1 HG01069.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18945.hp2 NA18956.hp2 NA18965.hp1 NA18985.hp1 NA18988.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19065.hp1 NA19082.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0003t0002 a0001c0005t0007	a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0030 others(62): Show a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0020 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0045 a0001c0001t0002g0051 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0003g0021 a0001c0001t0003g0023 a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0047 a0001c0001t0003g0053 a0001c0001t0003g0286 a0001c0001t0003g0289 a0001c0001t0003g0294 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0004g0025 a0001c0001t0004g0046 a0001c0001t0004g0157 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0005g0022 a0001c0001t0005g0024 a0001c0001t0006g0052 a0001c0001t0006g0054 a0001c0001t0009g0293 a0001c0001t0010g0050 a0001c0003t0002g0019 a0001c0003t0002g0055 a0001c0003t0002g0287 a0001c0005t0007g0048 a0001c0005t0007g0049	69	324	0.2130	26	c.-12 others(45): Show c.-121+4873_-121+4874insCTGACCTCAAGTGATCCACCCACCTC	P2RY6	ENSG00000171631.16	transcript	ENST00000540124.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
P2RY8_chrX_1457581_1542185	1478273	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	114	0.0088	26	c.-24 others(45): Show c.-24-11692_-24-11691insTGCACACACACACACACACACACACA	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P3H2_chr3_189951728_190125897	189970191	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02132.hp1 HG02135.hp1 others(9): Show HG00733.hp1 HG02132.hp1 HG02135.hp1 HG02809.hp2 NA18906.hp1 NA18964.hp1 NA18992.hp1 NA19060.hp1 NA19060.hp2 NA19066.hp2 NA19088.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0013 a0001c0001 a0001c0002 a0004c0013	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0013 a0004c0013t0006	a0001c0001t0001g0016 a0001c0001t0001g0138 a0001c0001t0001g0250 others(9): Show a0001c0001t0001g0016 a0001c0001t0001g0138 a0001c0001t0001g0250 a0001c0001t0005g0049 a0001c0002t0001g0148 a0001c0002t0002g0059 a0001c0002t0003g0045 a0001c0002t0003g0117 a0001c0002t0003g0139 a0001c0002t0003g0162 a0001c0002t0013g0149 a0004c0013t0006g0203	12	304	0.0395	26	c.189 others(43): Show c.1893+599_1893+624dupATATATATATATATATATATATATAT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	13/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(19): Show CACACACACACACACACACATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18953.hp2 HG03579.hp2 NA18953.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0017 a0001c0001 a0010c0017	a0001c0001t0005 a0010c0017t0002 a0001c0001t0005 a0010c0017t0002	a0001c0001t0005g0085 a0010c0017t0002g0235 a0001c0001t0005g0085 a0010c0017t0002g0235	2	304	0.0066	26	c.481 others(45): Show c.481-12524_481-12523insATATATATGTGTGTGTGTGTGTGTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(19): Show CACACACACACACACACATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0173 a0001c0002t0002g0173	1	304	0.0033	26	c.481 others(45): Show c.481-12524_481-12523insATATATATATGTGTGTGTGTGTGTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(19): Show CACACACACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	304	0.0033	26	c.481 others(45): Show c.481-12524_481-12523insATATATATATATATATATGTGTGTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(19): Show CACACACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03239.hp1 HG01109.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0007 a0001c0001t0001 a0001c0011t0007	a0001c0001t0001g0151 a0001c0011t0007g0087 a0001c0001t0001g0151 a0001c0011t0007g0087	2	304	0.0066	26	c.481 others(45): Show c.481-12524_481-12523insATATATATATATATATATATGTGTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190041020	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01168.hp2 HG01496.hp1 others(7): Show HG01106.hp1 HG01168.hp2 HG01496.hp1 HG01496.hp2 HG03654.hp2 NA18747.hp2 NA18944.hp1 NA18970.hp2 NA18991.hp2 NA19066.hp1	a0001 a0007 a0011 a0001 a0007 a0011	a0001c0001 a0001c0002 a0007c0006 others(1): Show a0001c0001 a0001c0002 a0007c0006 a0011c0022	a0001c0001t0004 a0001c0001t0012 a0001c0002t0002 others(3): Show a0001c0001t0004 a0001c0001t0012 a0001c0002t0002 a0001c0002t0003 a0007c0006t0003 a0011c0022t0002	a0001c0001t0004g0228 a0001c0001t0004g0298 a0001c0001t0012g0215 others(7): Show a0001c0001t0004g0228 a0001c0001t0004g0298 a0001c0001t0012g0215 a0001c0002t0002g0147 a0001c0002t0002g0182 a0001c0002t0002g0253 a0001c0002t0003g0121 a0001c0002t0003g0191 a0007c0006t0003g0001 a0011c0022t0002g0303	10	304	0.0329	26	c.481 others(45): Show c.481-45579_481-45578insTATATATATATATATATATATATATA	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
PABPC1L_chr20_44905060_44944316	44931003	T T	TCCTTCCT others(19): Show TCCTTCCTTCCTTCCTTCCTTCCCTTC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0212 a0001c0008t0002g0212	1	396	0.0025	26	c.123 others(43): Show c.1239+280_1239+281insTCCTTCCTTCCTTCCTTCCCTTCCCT	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(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 NA18948.hp2 HG01175.hp1 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0143 a0001c0001t0001g0001 a0001c0001t0001g0143	2	416	0.0048	26	c.26 others(37): Show c.2697_*2698insGTTTTTTTTTTTTTTTTTTTTTTTTT	PABPC1	ENSG00000070756.17	transcript	ENST00000318607.10	protein_coding		2252		chr8	TogoVar
PACC1_chr1_212358928_212419886	212381770	G G	GACACAGT others(19): Show GACACAGTGACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0272 a0001c0002t0001g0272	1	374	0.0027	26	c.496 others(43): Show c.496-1734_496-1733insGTGTGTGTGTGTGTGTGTCACTGTGT	PACC1	ENSG00000065600.13	transcript	ENST00000261455.9	protein_coding	4/7			chr1	TogoVar
PACRGL_chr4_20695458_20737557	20729120	T T	TCCCTGAA others(19): Show TCCCTGAATGGCTTGTAATATAAATAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0007 a0001c0001t0018g0007	2	412	0.0049	26	c.17 others(37): Show c.1780_*1805dupCCCTGAATGGCTTGTAATATAAATAA	PACRGL	ENSG00000163138.19	transcript	ENST00000503585.6	protein_coding	9/9	1806	INFO_REALIGN_3_PRIME	chr4	TogoVar
PACRG_chr6_162722974_163320500	162747474	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02148.hp2 NA19012.hp1 HG01517.hp1 HG02148.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008	a0001c0001t0004g0077 a0001c0001t0006g0011 a0001c0001t0008g0074 a0001c0001t0004g0077 a0001c0001t0006g0011 a0001c0001t0008g0074	3	130	0.0231	26	c.156 others(45): Show c.156+19102_156+19103insATATATATATATATATATATATATAT	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(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0064 a0001c0002t0010g0064	1	130	0.0077	26	c.292 others(45): Show c.292-80844_292-80843insATATATATATATATATATATATATTT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163095599	T T	TAGCTTCC others(19): Show TAGCTTCCGGAGGTGCCAGCGTCCTTG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02818.hp2 NA18522.hp2 HG02809.hp1 HG02818.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0017 a0001c0001t0001g0038 a0001c0001t0003g0014 a0001c0001t0001g0017 a0001c0001t0001g0038 a0001c0001t0003g0014	3	130	0.0231	26	c.613 others(43): Show c.613+6210_613+6211insGTCCTTGAGCTTCCGGAGGTGCCAGC	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163269867	G G	GAGAAAGA others(19): Show GAGAAAGAAAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01934.hp1 HG02723.hp2 others(3): Show HG01361.hp2 HG01934.hp1 HG02723.hp2 HG02809.hp2 NA18955.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0115 others(3): Show a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0115 a0001c0001t0003g0007 a0001c0001t0004g0084 a0001c0001t0006g0009	6	130	0.0462	26	c.614 others(45): Show c.614-44949_614-44948insGAAAGAAAGAAAGAAAGAAAGAAAGA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACS1_chr11_66065272_66249744	66138449	A A	AGGACCAA others(19): Show AGGACCAAGGACTAGAGTGAGTCAAGT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	322	0.0031	26	c.357 others(45): Show c.357-55029_357-55028insGACTAGAGTGAGTCAAGTGGACCAAG	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(19): Show AAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	322	0.0031	26	c.445 others(43): Show c.445-7619_445-7618insAAAAAAAATATATATATATATATATA	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr11	TogoVar

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