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
PAQR5_chr15_69293912_69412780	69300948	C C	CTTCTTTC others(21): Show CTTCTTTCTTTCCTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0225 a0001c0001t0015g0225	1	284	0.0035	28	c.-27 others(47): Show c.-277+1903_-277+1904insCTTCTTTCTTTCTTTCTTTCTTTCTT TC	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300948	C C	CTTCTTTC others(21): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18942.hp2 HG02886.hp1 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0157 a0001c0001t0004g0002 a0001c0001t0001g0157 a0001c0001t0004g0002	2	284	0.0070	28	c.-27 others(47): Show c.-277+1930_-277+1957dupTCTTTCTTTCTTTCTTTCTTTCTTTC TT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69322757	A A	AGAAGAGA others(21): Show AGAAGAGAGGAGAAGAAGAAGAAGATGAG	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	284	0.0035	28	c.-27 others(49): Show c.-276-14579_-276-14578insGAGGAGAAGAAGAAGAAGATGAGG AAGA	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69378264	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0131	1	284	0.0035	28	c.52- others(43): Show c.52-1593_52-1592insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PARD3B_chr2_204540475_205625162	204899256	C C	CCCTCCCT others(21): Show CCCTCCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0003 a0005c0013t0003	a0005c0013t0003g0002 a0005c0013t0003g0002	1	54	0.0185	28	c.223 others(47): Show c.223-65893_223-65892insCCCTTCCTTCCTTCCTTCCTTCCTTC CT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	204899256	C C	CCCTTCCT others(21): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0050 a0001c0001t0010g0050	1	54	0.0185	28	c.223 others(47): Show c.223-65873_223-65872insTCCTTCCTTCCTTCCTTCCTTCCTTC CT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205165491	G G	GTTAACTC others(21): Show GTTAACTCCTATAGTCAGGCTTATTACAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp2 HG03130.hp2 others(1): Show HG01109.hp2 HG02109.hp2 HG03130.hp2 HG03139.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0005c0013 a0001c0003 a0005c0013	a0001c0003t0008 a0001c0003t0016 a0005c0013t0001 others(1): Show a0001c0003t0008 a0001c0003t0016 a0005c0013t0001 a0005c0013t0003	a0001c0003t0008g0049 a0001c0003t0016g0046 a0005c0013t0001g0001 others(1): Show a0001c0003t0008g0049 a0001c0003t0016g0046 a0005c0013t0001g0001 a0005c0013t0003g0002	4	54	0.0741	28	c.162 others(47): Show c.1620+6586_1620+6613dupTAACTCCTATAGTCAGGCTTATTACA AT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205383105	T T	TAGATAGA others(21): Show TAGATAGATAGATAGATAGATAGATAGAG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0001 a0002c0021t0001	a0002c0021t0001g0012 a0002c0021t0001g0012	1	54	0.0185	28	c.263 others(49): Show c.2631-17881_2631-17880insGAGATAGATAGATAGATAGATAGA TAGA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3_chr10_34104561_34820296	34227854	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0002 a0001c0020t0002	a0001c0020t0002g0001 a0001c0020t0002g0001	1	100	0.0100	28	c.341 others(49): Show c.3419+41802_3419+41803insTATATATATATATATATATATATA TATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	22/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34227881	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0080 a0001c0003t0022g0080	1	100	0.0100	28	c.341 others(49): Show c.3419+41775_3419+41776insGTATATATATATATATATATATAT ATAT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	22/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34605692	A A	ATATATAT others(21): Show ATATATATATCTCCTATATATATATCTCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0002 a0001c0019t0002	a0001c0019t0002g0014 a0001c0019t0002g0014	1	100	0.0100	28	c.223 others(47): Show c.223-88534_223-88533insGGAGATATATATATAGGAGATATATA TA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34605841	A A	ATATATAT others(21): Show ATATATATATCTCCTACATATATATCTCC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0094 a0001c0001t0005g0094	1	100	0.0100	28	c.223 others(47): Show c.223-88683_223-88682insGGAGATATATATGTAGGAGATATATA TA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34605933	A A	ATATATAT others(21): Show ATATATATATCTCCTATATATATATCTCC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0094 a0001c0001t0005g0094	1	100	0.0100	28	c.223 others(47): Show c.223-88775_223-88774insGGAGATATATATATAGGAGATATATA TA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34666816	T T	TATATATA others(21): Show TATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0063 a0001c0003t0001g0063	1	100	0.0100	28	c.222 others(47): Show c.222+29501_222+29502insGTGTATATATATATATATATATATAT AT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARD6G_chr18_80152232_80252514	80177972	T T	TACATACA others(21): Show TACATACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0193 a0001c0001t0004g0193	1	382	0.0026	28	c.296 others(47): Show c.296-17367_296-17366insGTGTGTGTGTGTGTGTGTGTGTGTAT GT	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARD6G_chr18_80152232_80252514	80195548	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02040.hp1 HG03491.hp2 others(4): Show HG01256.hp1 HG02040.hp1 HG03491.hp2 HG03492.hp2 NA18947.hp1 NA19009.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0002t0029 a0001c0001t0005 a0001c0002t0001 a0001c0002t0029	a0001c0001t0005g0339 a0001c0002t0001g0133 a0001c0002t0001g0134 others(4): Show a0001c0001t0005g0339 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0268 a0001c0002t0001g0276 a0001c0002t0001g0289 a0001c0002t0029g0255	7	382	0.0183	28	c.295 others(45): Show c.295+7161_295+7162insATATATATATATATATATATATATATAT	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARG_chr10_49813279_49947027	49891623	A A	ATATATAT others(21): Show ATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0023 a0001c0001t0006g0023	1	292	0.0034	28	c.173 others(47): Show c.1738-6329_1738-6328insAAAAAAAAAAAAAATATATATATATA TA	PARG	ENSG00000227345.9	transcript	ENST00000616448.2	protein_coding	7/17			chr10	TogoVar
PARG_chr10_49813279_49947027	49927369	G G	GGAAAGAA others(21): Show GGAAAGAAGGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	292	0.0034	28	c.145 others(47): Show c.1456-4701_1456-4700insTTTCTTTCTTTCTTTCTTTCCTTCTT TC	PARG	ENSG00000227345.9	transcript	ENST00000616448.2	protein_coding	4/17			chr10	TogoVar
PARL_chr3_183824271_183889880	183882222	A A	AATATATA others(21): Show AATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	358	0.0028	28	c.125 others(45): Show c.125+2499_125+2500insAAATATATATATATATATATATATATAT	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9			chr3	TogoVar
PARP14_chr3_122675839_122735840	122677565	A A	AAAAAAAA others(21): Show AAAAAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	366	0.0027	28	c.-33 others(39): Show c.-3319_-3318insAAAAAAAAAAATATATATATATATATAT	PARP14	ENSG00000173193.15	transcript	ENST00000474629.7	protein_coding		3273		chr3	TogoVar
PARP15_chr3_122572650_122644047	122579999	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0020 a0004c0004t0003g0020	1	356	0.0028	28	c.186 others(45): Show c.186+2156_186+2183dupATATATATATATATATATATATATATAT	PARP15	ENSG00000173200.13	transcript	ENST00000464300.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
PARP15_chr3_122572650_122644047	122593120	C C	CTATCTAT others(21): Show CTATCTATCTATCTATCTATCTATCTATG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01255.hp2 HG01993.hp2 others(12): Show HG00621.hp2 HG01255.hp2 HG01993.hp2 HG02145.hp2 HG02559.hp1 HG03486.hp1 HG03579.hp2 HG03669.hp2 HG03831.hp1 HG04199.hp2 NA18522.hp2 NA18969.hp2 NA18983.hp2 NA19006.hp1 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0006 a0008c0009	a0001c0001t0001 a0001c0001t0022 a0002c0002t0003 others(7): Show a0001c0001t0001 a0001c0001t0022 a0002c0002t0003 a0003c0003t0015 a0004c0004t0003 a0005c0005t0001 a0006c0006t0002 a0006c0006t0006 a0008c0009t0004 a0008c0009t0008	a0001c0001t0001g0061 a0001c0001t0001g0108 a0001c0001t0022g0155 others(12): Show a0001c0001t0001g0061 a0001c0001t0001g0108 a0001c0001t0022g0155 a0002c0002t0003g0214 a0002c0002t0003g0226 a0002c0002t0003g0227 a0002c0002t0003g0267 a0003c0003t0015g0198 a0004c0004t0003g0020 a0005c0005t0001g0290 a0005c0005t0001g0306 a0006c0006t0002g0328 a0006c0006t0006g0331 a0008c0009t0004g0197 a0008c0009t0008g0205	15	356	0.0421	28	c.187 others(47): Show c.187-12813_187-12812insCTATCTATCTATCTATCTATCTATGT AT	PARP15	ENSG00000173200.13	transcript	ENST00000464300.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
PARP15_chr3_122572650_122644047	122601036	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0015 a0005c0005t0015	a0005c0005t0015g0288 a0005c0005t0015g0288	1	356	0.0028	28	c.187 others(45): Show c.187-4877_187-4876insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PARP15	ENSG00000173200.13	transcript	ENST00000464300.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
PARP16_chr15_65253099_65291883	65269176	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG03710.hp1 NA18940.hp2 HG02523.hp1 HG03710.hp1 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0188 a0001c0001t0002g0228 a0001c0001t0017g0206 a0001c0001t0002g0188 a0001c0001t0002g0228 a0001c0001t0017g0206	3	316	0.0095	28	c.312 others(45): Show c.312+1731_312+1758dupGAAAGAAAGAAAGAAAGAAAGAAAGAAA	PARP16	ENSG00000138617.16	transcript	ENST00000649807.2	protein_coding	2/5			chr15	TogoVar
PARP16_chr15_65253099_65291883	65290933	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	316	0.0032	28	c.-45 others(39): Show c.-4508_-4507insATATATATATATATATATATATATATAT	PARP16	ENSG00000138617.16	transcript	ENST00000649807.2	protein_coding		4051		chr15	TogoVar
PARP2_chr14_20338635_20362904	20347356	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	420	0.0024	28	c.324 others(43): Show c.324+444_324+445insGTGTGTGTGTGTATATATATATATATAT	PARP2	ENSG00000129484.14	transcript	ENST00000429687.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PARP4_chr13_24415931_24517778	24455480	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18964.hp2 NA18939.hp2 NA18964.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0063 a0002c0002t0001g0109 a0002c0002t0001g0063 a0002c0002t0001g0109	2	362	0.0055	28	c.256 others(45): Show c.2563-269_2563-268insATATATATATATATATATATATATATAT	PARP4	ENSG00000102699.6	transcript	ENST00000381989.4	protein_coding	21/33			chr13	TogoVar
PARP4_chr13_24415931_24517778	24455506	T T	TATATATA others(21): Show TATATATATATATATATATATATATCACA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0347 a0006c0006t0001g0347	1	362	0.0028	28	c.256 others(45): Show c.2563-295_2563-294insTGTGATATATATATATATATATATATAT	PARP4	ENSG00000102699.6	transcript	ENST00000381989.4	protein_coding	21/33			chr13	TogoVar
PARP8_chr5_50661637_50851519	50667520	G G	GCGGCGGC others(21): Show GCGGCGGCAGAGCGGGGTTGGTTGGACCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02572.hp2 NA19030.hp1 HG02257.hp1 HG02572.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0031 a0001c0007t0029 a0001c0007t0030 a0001c0001t0031 a0001c0007t0029 a0001c0007t0030	a0001c0001t0031g0004 a0001c0007t0029g0006 a0001c0007t0030g0005 a0001c0001t0031g0004 a0001c0007t0029g0006 a0001c0007t0030g0005	3	328	0.0092	28	c.91+ others(41): Show c.91+356_91+357insGGACCCCGGCGGCAGAGCGGGGTTGGTT	PARP8	ENSG00000151883.20	transcript	ENST00000281631.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PARP8_chr5_50661637_50851519	50754116	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18960.hp2 NA18988.hp1 others(1): Show HG02155.hp2 NA18960.hp2 NA18988.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0264 a0001c0001t0001g0293 a0001c0001t0001g0306 others(1): Show a0001c0001t0001g0264 a0001c0001t0001g0293 a0001c0001t0001g0306 a0001c0003t0001g0256	4	328	0.0122	28	c.184 others(45): Show c.184+3936_184+3963dupTATATATATATATATATATATATATATA	PARP8	ENSG00000151883.20	transcript	ENST00000281631.10	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PARP8_chr5_50661637_50851519	50754144	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA19055.hp1 NA18947.hp2 NA19055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0231 a0001c0003t0001g0232 a0001c0003t0001g0231 a0001c0003t0001g0232	2	328	0.0061	28	c.184 others(45): Show c.184+3963_184+3964insTATATATATATATATATATACATATATA	PARP8	ENSG00000151883.20	transcript	ENST00000281631.10	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PARP8_chr5_50661637_50851519	50754150	T T	TATATATA others(21): Show TATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0027 a0001c0004t0005g0027	1	328	0.0031	28	c.184 others(45): Show c.184+3963_184+3964insTATATATATATATATATATACACACACA	PARP8	ENSG00000151883.20	transcript	ENST00000281631.10	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PASD1_chrX_151558675_151681739	151645904	T T	TTTGTTTT others(21): Show TTTGTTTTGTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01069.hp1 HG01071.hp1 others(12): Show HG00323.hp2 HG01069.hp1 HG01071.hp1 HG01496.hp1 HG01891.hp2 HG02559.hp1 HG02615.hp2 HG02723.hp2 HG02922.hp1 HG02970.hp2 HG03942.hp1 NA18522.hp1 NA18906.hp1 NA19043.hp1 NA21309.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0002 a0001c0003 a0003c0012 others(1): Show a0001c0002 a0001c0003 a0003c0012 a0009c0017	a0001c0002t0002 a0001c0002t0006 a0001c0003t0002 others(5): Show a0001c0002t0002 a0001c0002t0006 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0007 a0003c0012t0002 a0009c0017t0002	a0001c0002t0002g0068 a0001c0002t0002g0119 a0001c0002t0002g0163 others(12): Show a0001c0002t0002g0068 a0001c0002t0002g0119 a0001c0002t0002g0163 a0001c0002t0002g0168 a0001c0002t0002g0172 a0001c0002t0002g0195 a0001c0002t0006g0064 a0001c0003t0002g0201 a0001c0003t0003g0030 a0001c0003t0003g0165 a0001c0003t0005g0157 a0001c0003t0007g0189 a0003c0012t0002g0008 a0003c0012t0002g0027 a0009c0017t0002g0062	15	221	0.0679	28	c.630 others(45): Show c.630-2709_630-2708insGTTTTGTTTTGTTTTGTTTTGTTTTGTT	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	8/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PASD1_chrX_151558675_151681739	151653868	C C	CTCCCTCC others(21): Show CTCCCTCCCTCCCTCCCTCCCTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	221	0.0045	28	c.717 others(45): Show c.717+5168_717+5169insCCTCCCTCCCTCCCTCCCTCTTTCTTTC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PASD1_chrX_151558675_151681739	151653868	C C	CTCCCTCC others(21): Show CTCCCTCCCTCCCTCCCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG01081.hp1 others(3): Show HG00438.hp1 HG00609.hp1 HG01081.hp1 NA18961.hp1 NA18986.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0116 a0001c0001t0001g0125 a0001c0001t0001g0146 others(3): Show a0001c0001t0001g0116 a0001c0001t0001g0125 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0161 a0001c0003t0003g0087	6	221	0.0272	28	c.717 others(45): Show c.717+5168_717+5169insCCTCCCTCCCTCCCTCTTTCTTTCTTTC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PASD1_chrX_151558675_151681739	151653868	C C	CTCCCTCC others(21): Show CTCCCTCCCTCCCTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01981.hp2 HG02027.hp1 others(2): Show HG01192.hp1 HG01981.hp2 HG02027.hp1 HG03704.hp2 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0015 a0001c0003t0003 a0001c0001t0001 a0001c0001t0015 a0001c0003t0003	a0001c0001t0001g0139 a0001c0001t0001g0147 a0001c0001t0015g0001 others(2): Show a0001c0001t0001g0139 a0001c0001t0001g0147 a0001c0001t0015g0001 a0001c0003t0003g0041 a0001c0003t0003g0156	5	221	0.0226	28	c.717 others(45): Show c.717+5168_717+5169insCCTCCCTCCCTCTTTCTTTCTTTCTTTC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PASD1_chrX_151558675_151681739	151653868	C C	CTCCCTCC others(21): Show CTCCCTCCCTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	221	0.0045	28	c.717 others(45): Show c.717+5168_717+5169insCCTCCCTCTTTCTTTCTTTCTTTCTTTC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PASD1_chrX_151558675_151681739	151653868	C C	CTCCCTCT others(21): Show CTCCCTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0076 a0001c0001t0016g0076	1	221	0.0045	28	c.717 others(45): Show c.717+5168_717+5169insCCTCTTTCTTTCTTTCTTTCTTTCTTTC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PATJ_chr1_61737480_62168915	61871465	A A	ATGTATAT others(21): Show ATGTATATACATATATATGCGTATATATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02622.hp2 HG03710.hp1 HG00280.hp1 HG02622.hp2 HG03710.hp1	a0003 a0010 a0042 a0003 a0010 a0042	a0003c0055 a0010c0015 a0042c0089 a0003c0055 a0010c0015 a0042c0089	a0003c0055t0004 a0010c0015t0002 a0042c0089t0004 a0003c0055t0004 a0010c0015t0002 a0042c0089t0004	a0003c0055t0004g0087 a0010c0015t0002g0155 a0042c0089t0004g0066 a0003c0055t0004g0087 a0010c0015t0002g0155 a0042c0089t0004g0066	3	158	0.0190	28	c.283 others(47): Show c.2836-3760_2836-3759insCGTATATATGTGTATATACATATATA TG	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	20/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61886819	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0044 a0007c0006t0001g0044	1	158	0.0063	28	c.313 others(47): Show c.3131+2423_3131+2424insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	22/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61952253	T T	TGAGAGAG others(21): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0005 a0005	a0005c0072 a0005c0072	a0005c0072t0036 a0005c0072t0036	a0005c0072t0036g0042 a0005c0072t0036g0042	1	158	0.0063	28	c.367 others(49): Show c.3670+24450_3670+24451insGAGAGAGAGAGAGAGAGAGAGAGA GAGA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	27/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61997982	T T	TTTTATAT others(21): Show TTTTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0055 a0055	a0055c0066 a0055c0066	a0055c0066t0001 a0055c0066t0001	a0055c0066t0001g0131 a0055c0066t0001g0131	1	158	0.0063	28	c.386 others(47): Show c.3867+7619_3867+7620insTTATATATATATATATATATATATAT AT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	28/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62086228	A A	ATGTGTGT others(21): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03041.hp2 HG03130.hp1 HG02922.hp2 HG03041.hp2 HG03130.hp1	a0001 a0052 a0053 a0001 a0052 a0053	a0001c0021 a0052c0019 a0053c0065 a0001c0021 a0052c0019 a0053c0065	a0001c0021t0001 a0052c0019t0001 a0053c0065t0033 a0001c0021t0001 a0052c0019t0001 a0053c0065t0033	a0001c0021t0001g0113 a0052c0019t0001g0141 a0053c0065t0033g0043 a0001c0021t0001g0113 a0052c0019t0001g0141 a0053c0065t0033g0043	3	158	0.0190	28	c.437 others(47): Show c.4377+1595_4377+1596insGTGTGTGTGTGTGTGTGTGTGTGTGT GT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62106158	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0007 a0007	a0007c0107 a0007c0107	a0007c0107t0003 a0007c0107t0003	a0007c0107t0003g0033 a0007c0107t0003g0033	1	158	0.0063	28	c.437 others(47): Show c.4378-2277_4378-2250dupATATATATATATATATATATATATAT AT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62106158	G G	GTGTGTGT others(21): Show GTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01516.hp2 HG01081.hp1 HG01516.hp2	a0017 a0031 a0017 a0031	a0017c0018 a0031c0131 a0017c0018 a0031c0131	a0017c0018t0004 a0031c0131t0004 a0017c0018t0004 a0031c0131t0004	a0017c0018t0004g0062 a0031c0131t0004g0086 a0017c0018t0004g0062 a0031c0131t0004g0086	2	158	0.0127	28	c.437 others(47): Show c.4378-2278_4378-2277insGTGTGTGTATATATATATATATATAT AT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62106158	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0005 a0005	a0005c0117 a0005c0117	a0005c0117t0002 a0005c0117t0002	a0005c0117t0002g0060 a0005c0117t0002g0060	1	158	0.0063	28	c.437 others(47): Show c.4378-2278_4378-2277insGTGTGTGTGTATATATATATATATAT AT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATL1_chr11_59631716_59674037	59632760	A A	ATATATCT others(21): Show ATATATCTATATATATATCTATATATATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02145.hp2 HG02572.hp2 others(2): Show HG01109.hp2 HG02145.hp2 HG02572.hp2 HG03209.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0005 a0001c0001t0005 a0001c0002t0005	a0001c0001t0005g0037 a0001c0002t0005g0014 a0001c0002t0005g0038 others(1): Show a0001c0001t0005g0037 a0001c0002t0005g0014 a0001c0002t0005g0038 a0001c0002t0005g0039	5	276	0.0181	28	c.56 others(39): Show c.5629_*5630insGATATATATAGATATATATATAGATATA	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding		3955		chr11	TogoVar
PATL1_chr11_59631716_59674037	59652064	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01261.hp1 HG00639.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	2	276	0.0073	28	c.142 others(45): Show c.1426+372_1426+399dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding	11/18			chr11	TogoVar
PAX1_chr20_21700664_21723481	21721333	C C	CATATATA others(21): Show CATATATATTATATATGTATATAATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02717.hp1 others(5): Show HG01891.hp2 HG02145.hp2 HG02717.hp1 HG02895.hp2 HG03041.hp2 HG03130.hp2 HG03471.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0008 a0001c0001t0008g0008	8	400	0.0200	28	c.67 others(39): Show c.6771_*6772insATATATATTATATATGTATATAATACAT	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		2853		chr20	TogoVar
PAX3_chr2_222194887_222303998	222255149	G G	GTTCTGTT others(21): Show GTTCTGTTCAGGCCACATTCATTTATAGA	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	328	0.0031	28	c.587 others(47): Show c.587-22894_587-22867dupTCTATAAATGAATGTGGCCTGAACAG AA	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	4/8			chr2	TogoVar

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