Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
PARD3_chr10_34104561_34820296	34573730	AACAAAAA others(11): Show AACAAAAACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02647.hp1 HG02809.hp2 others(3): Show HG01071.hp2 HG02647.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG03540.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0004 a0002c0005 a0002c0006 others(2): Show a0001c0004 a0002c0005 a0002c0006 a0003c0012 a0006c0009	a0001c0004t0002 a0002c0005t0002 a0002c0006t0002 others(3): Show a0001c0004t0002 a0002c0005t0002 a0002c0006t0002 a0002c0006t0006 a0003c0012t0013 a0006c0009t0011	a0001c0004t0002g0006 a0002c0005t0002g0024 a0002c0006t0002g0022 others(3): Show a0001c0004t0002g0006 a0002c0005t0002g0024 a0002c0006t0002g0022 a0002c0006t0006g0020 a0003c0012t0013g0097 a0006c0009t0011g0047	6	42	0.1429	-18	c.223 others(37): Show c.223-56589_223-56572delGTGTGTGTGTGTTTTTGT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34684778	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02280.hp2 NA20752.hp2 HG00099.hp2 HG02280.hp2 NA20752.hp2	a0001 a0001	a0001c0004 a0001c0013 a0001c0014 a0001c0004 a0001c0013 a0001c0014	a0001c0004t0003 a0001c0013t0002 a0001c0014t0001 a0001c0004t0003 a0001c0013t0002 a0001c0014t0001	a0001c0004t0003g0064 a0001c0013t0002g0012 a0001c0014t0001g0065 a0001c0004t0003g0064 a0001c0013t0002g0012 a0001c0014t0001g0065	3	32	0.0938	-18	c.222 others(37): Show c.222+11522_222+11539delGTGTGTGTGTGTGTGTGT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34750030	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01109.hp1 HG02083.hp2 others(6): Show HG00544.hp1 HG01109.hp1 HG02083.hp2 HG02280.hp1 HG03688.hp1 HG03704.hp1 NA18975.hp1 NA19090.hp1 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0004c0007	a0001c0001t0005 a0001c0001t0008 a0001c0002t0002 others(5): Show a0001c0001t0005 a0001c0001t0008 a0001c0002t0002 a0001c0003t0005 a0001c0003t0008 a0001c0003t0010 a0001c0003t0019 a0004c0007t0008	a0001c0001t0005g0098 a0001c0001t0008g0041 a0001c0002t0002g0002 others(6): Show a0001c0001t0005g0098 a0001c0001t0008g0041 a0001c0002t0002g0002 a0001c0003t0005g0100 a0001c0003t0008g0046 a0001c0003t0010g0043 a0001c0003t0010g0045 a0001c0003t0019g0089 a0004c0007t0008g0042	9	35	0.2571	-18	c.121 others(37): Show c.121-53629_121-53612delGTGTGTGTGTGTGTGTGT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	1/24			chr10	TogoVar
PARD6G_chr18_80152232_80252514	80186353	TCACACAT others(11): Show TCACACATGCTCGCACACC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18906.hp2 HG03130.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0342 a0001c0002t0006g0343 a0001c0002t0006g0342 a0001c0002t0006g0343	2	380	0.0053	-18	c.295 others(37): Show c.295+16339_295+16356delGGTGTGCGAGCATGTGTG	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARG_chr10_49813279_49947027	49920459	AAAAAATA others(11): Show AAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0205	1	288	0.0035	-18	c.166 others(37): Show c.1662+1859_1662+1876delATATATATATATATTTTT	PARG	ENSG00000227345.9	transcript	ENST00000616448.2	protein_coding	6/17			chr10	TogoVar
PARK7_chr1_7956711_7990505	7961850	GGTGCTGG others(11): Show GGTGCTGGACGGTGTCCCT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(21): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00642.hp2 HG00738.hp2 HG01256.hp1 HG01258.hp2 HG01496.hp2 HG02132.hp1 HG02486.hp1 HG02717.hp1 HG03704.hp1 HG04115.hp2 NA18946.hp1 NA18949.hp2 NA18952.hp2 NA18963.hp2 NA18985.hp1 NA18994.hp1 NA19060.hp1 NA19065.hp1 NA19079.hp1 NA19083.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0047 others(16): Show a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0002g0046	24	360	0.0667	-18	c.-24 others(31): Show c.-24+75_-24+92delTGTGCTGGACGGTGTCCC	PARK7	ENSG00000116288.13	transcript	ENST00000338639.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
PARL_chr3_183824271_183889880	183882227	ATATATAT others(11): Show ATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02486.hp2 HG02647.hp2 others(3): Show HG02080.hp2 HG02486.hp2 HG02647.hp2 HG02818.hp2 HG03041.hp2 HG03516.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0262 a0002c0002t0001g0222 a0002c0002t0001g0223 others(3): Show a0001c0001t0001g0262 a0002c0002t0001g0222 a0002c0002t0001g0223 a0003c0003t0001g0226 a0003c0003t0001g0227 a0003c0003t0001g0228	6	354	0.0169	-18	c.125 others(35): Show c.125+2477_125+2494delAATATATATATATATATA	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9			chr3	TogoVar
PARM1_chr4_74928116_75055113	75020009	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01109.hp2 others(27): Show HG01070.hp2 HG01071.hp2 HG01109.hp2 HG01123.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02109.hp2 HG02145.hp2 HG02258.hp2 HG02615.hp1 HG02622.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG06807.hp1 NA19240.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0003c0009	a0001c0001t0005 a0001c0001t0017 a0001c0001t0019 others(11): Show a0001c0001t0005 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0026 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0002c0002t0003 a0002c0002t0004 a0002c0002t0029 a0002c0004t0027 a0003c0009t0003	a0001c0001t0005g0002 a0001c0001t0005g0014 a0001c0001t0005g0021 others(22): Show a0001c0001t0005g0002 a0001c0001t0005g0014 a0001c0001t0005g0021 a0001c0001t0005g0028 a0001c0001t0005g0089 a0001c0001t0005g0126 a0001c0001t0017g0054 a0001c0001t0017g0093 a0001c0001t0019g0171 a0001c0001t0020g0170 a0001c0001t0026g0023 a0001c0003t0001g0156 a0001c0003t0002g0154 a0001c0003t0003g0015 a0001c0003t0004g0001 a0001c0003t0004g0037 a0002c0002t0003g0003 a0002c0002t0003g0027 a0002c0002t0003g0029 a0002c0002t0003g0035 a0002c0002t0003g0074 a0002c0002t0004g0036 a0002c0002t0029g0025 a0002c0004t0027g0031 a0003c0009t0003g0165	30	142	0.2113	-18	c.769 others(35): Show c.769+6870_769+6887delAAAAAAAAAAAAAAAAAA	PARM1	ENSG00000169116.11	transcript	ENST00000307428.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
PARN_chr16_14430701_14635260	14533421	CGGAGAGG others(11): Show CGGAGAGGGAGAGGGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00673.hp1 HG01891.hp1 others(6): Show HG00323.hp2 HG00673.hp1 HG01891.hp1 HG02451.hp2 HG02615.hp1 HG02922.hp2 NA18968.hp2 NA19090.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012	a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 others(6): Show a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0002g0009 a0001c0001t0002g0030 a0001c0001t0002g0079 a0001c0001t0003g0077 a0001c0001t0004g0162 a0001c0001t0012g0169	9	22	0.4091	-18	c.148 others(39): Show c.1480+18582_1480+18599delCTCTCCCTCTCCCTCTCC	PARN	ENSG00000140694.18	transcript	ENST00000437198.7	protein_coding	21/23			chr16	TogoVar
PARP11_chr12_3803861_3878399	3849960	TTTTTAAA others(11): Show TTTTTAAATATGTATTTAA	T T	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0060 a0001c0001t0008g0060	1	414	0.0024	-18	c.19- others(35): Show c.19-19960_19-19943delTTAAATACATATTTAAAA	PARP11	ENSG00000111224.14	transcript	ENST00000228820.9	protein_coding	1/7			chr12	TogoVar
PARP12_chr7_140018749_140067951	140035993	GAGGAGGA others(11): Show GAGGAGGAGAAGGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp1 HG01884.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0132 a0001c0001t0002g0102 a0001c0001t0002g0132	2	291	0.0069	-18	c.132 others(37): Show c.1325-1680_1325-1663delTCTCCTCCTTCTCCTCCT	PARP12	ENSG00000059378.13	transcript	ENST00000263549.8	protein_coding	7/11			chr7	TogoVar
PARP16_chr15_65253099_65291883	65265020	ATGGTAAG others(11): Show ATGGTAAGCTGAGAGCCAG	A A	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18969.hp2 NA18944.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	2	314	0.0064	-18	c.519 others(35): Show c.519+1524_519+1541delCTGGCTCTCAGCTTACCA	PARP16	ENSG00000138617.16	transcript	ENST00000649807.2	protein_coding	3/5			chr15	TogoVar
PARP2_chr14_20338635_20362904	20347350	GTGTGTGT others(11): Show GTGTGTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0045 a0001c0002t0001g0045	1	413	0.0024	-18	c.324 others(33): Show c.324+439_324+456delGTGTGTATATATATATAT	PARP2	ENSG00000129484.14	transcript	ENST00000429687.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PARP2_chr14_20338635_20362904	20347384	ATATATAT others(11): Show ATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	411	0.0024	-18	c.324 others(33): Show c.324+473_324+490delATATATATATATATTTTT	PARP2	ENSG00000129484.14	transcript	ENST00000429687.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PARP4_chr13_24415931_24517778	24460441	CGTGGGCT others(11): Show CGTGGGCTCTGCTGCACGG	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02280.hp1 HG02622.hp2 others(3): Show HG00609.hp2 HG02280.hp1 HG02622.hp2 HG02809.hp1 HG03098.hp2 NA18906.hp1	a0002 a0017 a0030 a0002 a0017 a0030	a0002c0002 a0017c0016 a0030c0056 a0002c0002 a0017c0016 a0030c0056	a0002c0002t0001 a0017c0016t0001 a0030c0056t0001 a0002c0002t0001 a0017c0016t0001 a0030c0056t0001	a0002c0002t0001g0070 a0002c0002t0001g0334 a0017c0016t0001g0032 others(3): Show a0002c0002t0001g0070 a0002c0002t0001g0334 a0017c0016t0001g0032 a0017c0016t0001g0033 a0017c0016t0001g0034 a0030c0056t0001g0029	6	349	0.0172	-18	c.213 others(35): Show c.2134-323_2134-306delCCGTGCAGCAGAGCCCAC	PARP4	ENSG00000102699.6	transcript	ENST00000381989.4	protein_coding	17/33			chr13	TogoVar
PARP4_chr13_24415931_24517778	24460475	CGGGTGGG others(11): Show CGGGTGGGCTCTGCTGCAT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03704.hp2 HG02965.hp2 HG03704.hp2	a0014 a0042 a0014 a0042	a0014c0032 a0042c0051 a0014c0032 a0042c0051	a0014c0032t0001 a0042c0051t0001 a0014c0032t0001 a0042c0051t0001	a0014c0032t0001g0089 a0042c0051t0001g0233 a0014c0032t0001g0089 a0042c0051t0001g0233	2	111	0.0180	-18	c.213 others(35): Show c.2134-357_2134-340delATGCAGCAGAGCCCACCC	PARP4	ENSG00000102699.6	transcript	ENST00000381989.4	protein_coding	17/33			chr13	TogoVar
PARP4_chr13_24415931_24517778	24472436	GCCCCGTC others(11): Show GCCCCGTCTCCCCAGATTA	G G	intron_variant intron_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	360	0.0028	-18	c.191 others(37): Show c.1915-2429_1915-2412delTAATCTGGGGAGACGGGG	PARP4	ENSG00000102699.6	transcript	ENST00000381989.4	protein_coding	15/33			chr13	TogoVar
PARP8_chr5_50661637_50851519	50747761	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19043.hp1 NA21309.hp2 HG03098.hp2 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0031 a0001c0004t0005g0032 a0001c0004t0005g0033 a0001c0004t0005g0031 a0001c0004t0005g0032 a0001c0004t0005g0033	3	134	0.0224	-18	c.147 others(35): Show c.147-2378_147-2361delTTTTTTTTTTTTTTTTTT	PARP8	ENSG00000151883.20	transcript	ENST00000281631.10	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PARP8_chr5_50661637_50851519	50819427	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0255 a0001c0001t0008g0255	1	112	0.0089	-18	c.166 others(37): Show c.1669-1773_1669-1756delTTTTTTTTTTTTTTTTTT	PARP8	ENSG00000151883.20	transcript	ENST00000281631.10	protein_coding	15/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PARP9_chr3_122522924_122569300	122535720	TATAGGAA others(11): Show TATAGGAAACAAAGGGATG	T T	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0064 a0002c0001t0001g0064	1	434	0.0023	-18	c.208 others(35): Show c.2080+430_2080+447delCATCCCTTTGTTTCCTAT	PARP9	ENSG00000138496.17	transcript	ENST00000682323.1	protein_coding	10/10			chr3	TogoVar
PARP9_chr3_122522924_122569300	122546968	CTATATAT others(11): Show CTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01884.hp2 HG02040.hp2 others(8): Show HG00733.hp1 HG01884.hp2 HG02040.hp2 HG03669.hp2 HG03704.hp1 NA18968.hp1 NA18993.hp1 NA19009.hp1 NA19011.hp2 NA19059.hp1 NA19068.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0003 a0002c0001 a0007c0014 a0001c0003 a0002c0001 a0007c0014	a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 others(2): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0002c0001t0001 a0007c0014t0004	a0001c0003t0001g0174 a0001c0003t0002g0001 a0001c0003t0002g0002 others(6): Show a0001c0003t0001g0174 a0001c0003t0002g0001 a0001c0003t0002g0002 a0001c0003t0002g0311 a0001c0003t0002g0333 a0001c0003t0002g0337 a0001c0003t0004g0047 a0002c0001t0001g0288 a0007c0014t0004g0048	11	187	0.0588	-18	c.132 others(37): Show c.1327-1497_1327-1480delTATATATATATATATATA	PARP9	ENSG00000138496.17	transcript	ENST00000682323.1	protein_coding	6/10			chr3	TogoVar
PARVA_chr11_12372571_12540356	12470659	CAGATCAT others(11): Show CAGATCATGATGAGAAAAT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02572.hp1 HG03130.hp1 others(3): Show HG02486.hp1 HG02572.hp1 HG03130.hp1 HG04184.hp2 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 others(2): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 a0001c0001t0031 a0001c0001t0032	a0001c0001t0003g0136 a0001c0001t0009g0284 a0001c0001t0013g0188 others(3): Show a0001c0001t0003g0136 a0001c0001t0009g0284 a0001c0001t0013g0188 a0001c0001t0031g0280 a0001c0001t0032g0159 a0001c0001t0032g0254	6	284	0.0211	-18	c.137 others(35): Show c.137-3066_137-3049delGATCATGATGAGAAAATA	PARVA	ENSG00000197702.14	transcript	ENST00000334956.15	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PARVB_chr22_44019302_44177939	44021756	GACTCACA others(11): Show GACTCACACACACACACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00735.hp2 HG01071.hp2 others(2): Show HG00099.hp2 HG00735.hp2 HG01071.hp2 HG03942.hp2 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0002c0003t0001	a0001c0001t0001g0244 a0001c0001t0005g0043 a0001c0001t0005g0260 others(2): Show a0001c0001t0001g0244 a0001c0001t0005g0043 a0001c0001t0005g0260 a0001c0001t0006g0223 a0002c0003t0001g0051	5	260	0.0192	-18	c.-25 others(29): Show c.-2583_-2566delACTCACACACACACACAC	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding		2545		chr22	TogoVar
PARVB_chr22_44019302_44177939	44111496	CTGGAGTG others(11): Show CTGGAGTGCAGTGTCACCA	C C	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0265 a0001c0001t0007g0265	1	322	0.0031	-18	c.274 others(35): Show c.274-7540_274-7523delGGAGTGCAGTGTCACCAT	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44122502	GAGAGAGA others(11): Show GAGAGAGAGAGAGAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0037 a0001c0027t0037	a0001c0027t0037g0317 a0001c0027t0037g0317	1	327	0.0031	-18	c.376 others(35): Show c.376+3370_376+3387delGAGAGAGAGACAGAGAGA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44122510	GAGAGAGA others(11): Show GAGAGAGAGACAGAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00741.hp1 others(16): Show HG00099.hp1 HG00438.hp1 HG00741.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02145.hp2 HG02486.hp1 HG02559.hp2 HG02970.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp2 NA18747.hp2 NA18977.hp1 NA19000.hp1 NA19011.hp1 NA19011.hp2 NA19057.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0023 others(2): Show a0001c0001 a0001c0002 a0001c0023 a0002c0003 a0004c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0007 a0001c0002t0020 a0001c0023t0052 a0002c0003t0001 a0004c0020t0010	a0001c0001t0001g0219 a0001c0001t0001g0269 a0001c0001t0001g0303 others(16): Show a0001c0001t0001g0219 a0001c0001t0001g0269 a0001c0001t0001g0303 a0001c0001t0002g0137 a0001c0001t0002g0206 a0001c0001t0002g0221 a0001c0001t0002g0293 a0001c0001t0003g0241 a0001c0001t0003g0271 a0001c0001t0006g0223 a0001c0002t0001g0054 a0001c0002t0002g0055 a0001c0002t0002g0138 a0001c0002t0006g0155 a0001c0002t0007g0005 a0001c0002t0020g0074 a0001c0023t0052g0083 a0002c0003t0001g0051 a0004c0020t0010g0057	19	329	0.0578	-18	c.376 others(35): Show c.376+3380_376+3397delCAGAGAGACAGAGAGAGA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44122544	GAGAGAGA others(11): Show GAGAGAGAGACACAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01934.hp1 HG01106.hp2 HG01934.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0006 a0002c0003 a0003c0006	a0002c0003t0011 a0003c0006t0008 a0002c0003t0011 a0003c0006t0008	a0002c0003t0011g0284 a0003c0006t0008g0107 a0002c0003t0011g0284 a0003c0006t0008g0107	2	328	0.0061	-18	c.376 others(35): Show c.376+3414_376+3431delCACAGAGACAGAGAGAGA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVG_chr22_44175925_44213469	44194190	TCTATAAA others(11): Show TCTATAAAAGGGCACTCAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03471.hp2 NA19043.hp1 HG02809.hp2 HG03471.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0033 a0001c0001t0018 a0001c0001t0033	a0001c0001t0018g0099 a0001c0001t0018g0345 a0001c0001t0033g0337 a0001c0001t0018g0099 a0001c0001t0018g0345 a0001c0001t0033g0337	3	420	0.0071	-18	c.583 others(33): Show c.583+370_583+387delATAAAAGGGCACTCACCT	PARVG	ENSG00000138964.17	transcript	ENST00000444313.8	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr22	TogoVar
PATJ_chr1_61737480_62168915	61813364	TATATATA others(11): Show TATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0015 a0015	a0015c0010 a0015c0010	a0015c0010t0001 a0015c0010t0001	a0015c0010t0001g0087 a0015c0010t0001g0087	1	153	0.0065	-18	c.168 others(37): Show c.1683+4836_1683+4853delTATATATATATATACACA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	14/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61813368	TATATATA others(11): Show TATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0061 a0002c0061	a0002c0061t0003 a0002c0061t0003	a0002c0061t0003g0099 a0002c0061t0003g0099	1	152	0.0066	-18	c.168 others(37): Show c.1683+4840_1683+4857delTATATATATACACACACA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	14/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61935086	GCATTCAT others(11): Show GCATTCATTCTTTCAGCGA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02559.hp1 HG02615.hp2 others(10): Show HG01074.hp2 HG02559.hp1 HG02615.hp2 HG02809.hp2 HG02970.hp2 HG03130.hp1 HG03195.hp1 HG03471.hp1 HG03516.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA19030.hp2	a0001 a0020 a0021 others(7): Show a0001 a0020 a0021 a0022 a0030 a0048 a0053 a0055 a0058 a0059	a0001c0001 a0001c0026 a0020c0127 others(10): Show a0001c0001 a0001c0026 a0020c0127 a0020c0128 a0021c0032 a0021c0033 a0022c0036 a0030c0136 a0048c0086 a0053c0065 a0055c0066 a0058c0090 a0059c0074	a0001c0001t0004 a0001c0026t0002 a0020c0127t0006 others(10): Show a0001c0001t0004 a0001c0026t0002 a0020c0127t0006 a0020c0128t0002 a0021c0032t0004 a0021c0033t0003 a0022c0036t0006 a0030c0136t0010 a0048c0086t0010 a0053c0065t0003 a0055c0066t0002 a0058c0090t0006 a0059c0074t0016	a0001c0001t0004g0015 a0001c0026t0002g0076 a0020c0127t0006g0031 others(10): Show a0001c0001t0004g0015 a0001c0026t0002g0076 a0020c0127t0006g0031 a0020c0128t0002g0021 a0021c0032t0004g0146 a0021c0033t0003g0080 a0022c0036t0006g0145 a0030c0136t0010g0056 a0048c0086t0010g0014 a0053c0065t0003g0096 a0055c0066t0002g0123 a0058c0090t0006g0019 a0059c0074t0016g0094	13	151	0.0861	-18	c.367 others(37): Show c.3670+7262_3670+7279delCATTCTTTCAGCGACATT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	27/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61965121	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0007 a0007	a0007c0050 a0007c0050	a0007c0050t0022 a0007c0050t0022	a0007c0050t0022g0039 a0007c0050t0022g0039	1	20	0.0500	-18	c.367 others(39): Show c.3671-25024_3671-25007delAAAAAAAAAAAAAAAAAA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	27/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62024657	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02895.hp1 HG02132.hp1 HG02895.hp1	a0001 a0044 a0001 a0044	a0001c0048 a0044c0135 a0001c0048 a0044c0135	a0001c0048t0005 a0044c0135t0006 a0001c0048t0005 a0044c0135t0006	a0001c0048t0005g0037 a0044c0135t0006g0135 a0001c0048t0005g0037 a0044c0135t0006g0135	2	6	0.3333	-18	c.395 others(37): Show c.3959+6752_3959+6769delCACACACACACACACACA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	29/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62048545	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01192.hp1 HG01891.hp1 others(17): Show HG00735.hp2 HG01192.hp1 HG01891.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02723.hp2 HG02809.hp1 HG02965.hp1 HG02976.hp2 HG03130.hp2 HG03471.hp2 NA18522.hp2 NA18906.hp2 NA19030.hp1	a0001 a0002 a0005 others(9): Show a0001 a0002 a0005 a0009 a0012 a0024 a0034 a0036 a0039 a0041 a0050 a0056	a0001c0104 a0002c0012 a0002c0020 others(15): Show a0001c0104 a0002c0012 a0002c0020 a0002c0030 a0002c0061 a0005c0042 a0005c0071 a0005c0123 a0009c0054 a0012c0005 a0012c0025 a0024c0039 a0034c0109 a0036c0044 a0039c0108 a0041c0060 a0050c0085 a0056c0034	a0001c0104t0011 a0002c0012t0004 a0002c0020t0020 others(16): Show a0001c0104t0011 a0002c0012t0004 a0002c0020t0020 a0002c0030t0004 a0002c0061t0003 a0005c0042t0004 a0005c0071t0004 a0005c0123t0002 a0009c0054t0001 a0012c0005t0002 a0012c0005t0012 a0012c0025t0002 a0024c0039t0003 a0034c0109t0002 a0036c0044t0003 a0039c0108t0002 a0041c0060t0002 a0050c0085t0007 a0056c0034t0004	a0001c0104t0011g0074 a0002c0012t0004g0122 a0002c0012t0004g0150 others(17): Show a0001c0104t0011g0074 a0002c0012t0004g0122 a0002c0012t0004g0150 a0002c0020t0020g0069 a0002c0030t0004g0081 a0002c0061t0003g0099 a0005c0042t0004g0130 a0005c0071t0004g0065 a0005c0123t0002g0018 a0009c0054t0001g0119 a0012c0005t0002g0121 a0012c0005t0012g0064 a0012c0025t0002g0141 a0024c0039t0003g0066 a0034c0109t0002g0125 a0036c0044t0003g0023 a0039c0108t0002g0124 a0041c0060t0002g0120 a0050c0085t0007g0042 a0056c0034t0004g0082	20	71	0.2817	-18	c.403 others(37): Show c.4033-2413_4033-2396delAAAAAAAAAAAAAAAAAA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	30/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62094558	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG01081.hp2 others(16): Show HG00140.hp1 HG00642.hp1 HG01081.hp2 HG01192.hp1 HG01496.hp1 HG01934.hp1 HG01934.hp2 HG02258.hp2 HG02647.hp1 HG02723.hp2 HG02922.hp1 HG02976.hp2 HG03195.hp2 HG03486.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp2 HG04204.hp2	a0001 a0003 a0006 others(9): Show a0001 a0003 a0006 a0008 a0009 a0012 a0015 a0027 a0034 a0038 a0045 a0050	a0001c0001 a0001c0047 a0001c0059 others(13): Show a0001c0001 a0001c0047 a0001c0059 a0001c0093 a0001c0105 a0003c0055 a0006c0017 a0008c0014 a0009c0054 a0012c0023 a0015c0010 a0027c0073 a0034c0109 a0038c0087 a0045c0111 a0050c0085	a0001c0001t0003 a0001c0047t0023 a0001c0059t0005 others(13): Show a0001c0001t0003 a0001c0047t0023 a0001c0059t0005 a0001c0093t0001 a0001c0105t0003 a0003c0055t0001 a0006c0017t0001 a0008c0014t0001 a0009c0054t0001 a0012c0023t0007 a0015c0010t0001 a0027c0073t0001 a0034c0109t0002 a0038c0087t0007 a0045c0111t0018 a0050c0085t0007	a0001c0001t0003g0151 a0001c0047t0023g0118 a0001c0059t0005g0098 others(16): Show a0001c0001t0003g0151 a0001c0047t0023g0118 a0001c0059t0005g0098 a0001c0093t0001g0104 a0001c0105t0003g0006 a0003c0055t0001g0044 a0006c0017t0001g0029 a0006c0017t0001g0112 a0008c0014t0001g0106 a0008c0014t0001g0148 a0009c0054t0001g0119 a0012c0023t0007g0024 a0015c0010t0001g0087 a0015c0010t0001g0093 a0027c0073t0001g0035 a0034c0109t0002g0125 a0038c0087t0007g0027 a0045c0111t0018g0025 a0050c0085t0007g0042	19	38	0.5000	-18	c.437 others(37): Show c.4377+9944_4377+9961delCACACACACACACACACA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62125246	AAAAAAAA others(11): Show AAAAAAAACAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01433.hp2 HG01109.hp1 HG01433.hp2	a0007 a0011 a0007 a0011	a0007c0031 a0011c0084 a0007c0031 a0011c0084	a0007c0031t0014 a0011c0084t0003 a0007c0031t0014 a0011c0084t0003	a0007c0031t0014g0079 a0011c0084t0003g0088 a0007c0031t0014g0079 a0011c0084t0003g0088	2	155	0.0129	-18	c.504 others(37): Show c.5043+2196_5043+2213delCAAAAAAAAACAAAAAAA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	39/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATL1_chr11_59631716_59674037	59672310	CTATATAT others(11): Show CTATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG02083.hp2 HG01261.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0001 a0001c0006t0001g0146 a0001c0001t0001g0001 a0001c0006t0001g0146	2	70	0.0286	-18	c.-34 others(29): Show c.-3433_-3416delTATATATATATATATATA	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding		3274		chr11	TogoVar
PAWR_chr12_79579879_79695964	79613975	ATATATTT others(11): Show ATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0112 a0001c0003t0024g0112	1	249	0.0040	-18	c.649 others(33): Show c.649-384_649-367delAAAAAAAAAAAAAATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79632294	TACATATA others(11): Show TACATATATATATACATAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01192.hp1 HG01884.hp2 others(8): Show HG01109.hp1 HG01192.hp1 HG01884.hp2 HG02055.hp2 HG02622.hp1 HG02717.hp1 HG02896.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 NA18985.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0005 a0002c0002t0019 a0002c0002t0001 a0002c0002t0005 a0002c0002t0019	a0002c0002t0001g0168 a0002c0002t0001g0180 a0002c0002t0001g0182 others(8): Show a0002c0002t0001g0168 a0002c0002t0001g0180 a0002c0002t0001g0182 a0002c0002t0001g0204 a0002c0002t0001g0225 a0002c0002t0001g0228 a0002c0002t0005g0178 a0002c0002t0005g0230 a0002c0002t0005g0246 a0002c0002t0005g0248 a0002c0002t0019g0174	11	244	0.0451	-18	c.517 others(37): Show c.517-11105_517-11088delGTATGTATATATATATGT	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79639833	CATTCCTA others(11): Show CATTCCTATTCCTATTCCT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01081.hp2 HG01099.hp2 others(40): Show HG00423.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01168.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01884.hp1 HG01993.hp1 HG02040.hp2 HG02055.hp1 HG02074.hp2 HG02080.hp1 HG02257.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp2 HG02976.hp2 HG03471.hp1 HG03516.hp1 HG03654.hp2 HG03834.hp2 NA18941.hp1 NA18942.hp1 NA18945.hp2 NA18957.hp1 NA18957.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18982.hp1 NA18987.hp1 NA18987.hp2 NA19063.hp2 NA19066.hp2 NA19085.hp1 NA20300.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0016 a0001c0003t0023 a0003c0004t0022	a0001c0001t0002g0136 a0001c0001t0004g0001 a0001c0001t0004g0004 others(39): Show a0001c0001t0002g0136 a0001c0001t0004g0001 a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0016 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0025 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0151 a0001c0001t0004g0160 a0001c0001t0006g0011 a0001c0001t0006g0017 a0001c0001t0006g0024 a0001c0001t0006g0026 a0001c0001t0006g0027 a0001c0001t0006g0035 a0001c0001t0010g0149 a0001c0001t0010g0150 a0001c0001t0010g0152 a0001c0001t0016g0015 a0001c0003t0023g0110 a0003c0004t0022g0163	43	142	0.3028	-18	c.517 others(37): Show c.517-18644_517-18627delAGGAATAGGAATAGGAAT	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAX1_chr20_21700664_21723481	21705442	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	107	0.0093	-18	c.-27 others(27): Show c.-270_-253delGTGTGTGTGTGTGTGTGT	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		221		chr20	TogoVar
PAX2_chr10_100740582_100834944	100742843	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0152 a0001c0002t0031g0152	1	21	0.0476	-18	c.-34 others(29): Show c.-3417_-3400delTTTTTTTTTTTTTTTTTT	PAX2	ENSG00000075891.24	transcript	ENST00000355243.8	protein_coding		2738		chr10	TogoVar
PAX2_chr10_100740582_100834944	100805016	TCTCACAT others(11): Show TCTCACATACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02615.hp2 HG02622.hp1 others(5): Show HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG04204.hp2 NA19030.hp2 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0004c0007 a0001c0003 a0004c0007	a0001c0003t0006 a0001c0003t0007 a0001c0003t0020 others(1): Show a0001c0003t0006 a0001c0003t0007 a0001c0003t0020 a0004c0007t0007	a0001c0003t0006g0201 a0001c0003t0007g0099 a0001c0003t0007g0106 others(5): Show a0001c0003t0006g0201 a0001c0003t0007g0099 a0001c0003t0007g0106 a0001c0003t0007g0128 a0001c0003t0007g0132 a0001c0003t0007g0169 a0001c0003t0020g0215 a0004c0007t0007g0100	8	159	0.0503	-18	c.617 others(35): Show c.617-1412_617-1395delTCACATACACACACACAC	PAX2	ENSG00000075891.24	transcript	ENST00000355243.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAX2_chr10_100740582_100834944	100805023	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	100	0.0100	-18	c.617 others(35): Show c.617-1372_617-1355delACACACACACACACACAC	PAX2	ENSG00000075891.24	transcript	ENST00000355243.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAX3_chr2_222194887_222303998	222203012	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0311 a0001c0001t0005g0311	1	24	0.0417	-18	c.117 others(35): Show c.1174-840_1174-823delATATATATATATATATAT	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	7/8			chr2	TogoVar
PAX3_chr2_222194887_222303998	222209696	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp1 HG02109.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0112 a0001c0006t0001g0171 a0001c0001t0001g0112 a0001c0006t0001g0171	2	4	0.5000	-18	c.117 others(37): Show c.1174-7524_1174-7507delTTTTTTTTTTTTTTTTTT	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	7/8			chr2	TogoVar
PAX3_chr2_222194887_222303998	222291969	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	75	0.0133	-18	c.586 others(35): Show c.586+2180_586+2197delACACACACACACACACAC	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	4/8			chr2	TogoVar
PAX6_chr11_31784026_31816322	31794420	CCACACAC others(11): Show CCACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00642.hp2 HG00741.hp2 others(19): Show HG00544.hp1 HG00642.hp2 HG00741.hp2 HG01106.hp1 HG01346.hp2 HG01516.hp2 HG01978.hp1 HG02145.hp1 HG02698.hp2 HG02738.hp1 HG02897.hp2 HG03239.hp1 HG03239.hp2 HG03654.hp2 HG06807.hp2 NA18949.hp2 NA18950.hp1 NA19001.hp2 NA19054.hp1 NA19081.hp2 NA19086.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0030 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0126 a0001c0001t0001g0139 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0160 a0001c0001t0002g0005 a0001c0001t0002g0015 a0001c0001t0002g0020 a0001c0001t0002g0124 a0001c0001t0004g0131 a0001c0001t0004g0157	22	31	0.7097	-18	c.724 others(33): Show c.724+192_724+209delTGTGTGTGTGTGTGTGTG	PAX6	ENSG00000007372.25	transcript	ENST00000640368.2	protein_coding	9/13			chr11	TogoVar
PAX6_chr11_31784026_31816322	31815454	ATTTGTCC others(11): Show ATTTGTCCCGTTGTAGACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	374	0.0027	-18	c.-46 others(29): Show c.-4674_-4657delGGTCTACAACGGGACAAA	PAX6	ENSG00000007372.25	transcript	ENST00000640368.2	protein_coding		4133		chr11	TogoVar
PAX9_chr14_36656860_36684362	36668743	AATGCTTA others(11): Show AATGCTTAATTTATAATAC	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01261.hp1 HG01516.hp1 others(30): Show HG01069.hp2 HG01261.hp1 HG01516.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp2 HG02280.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02698.hp2 HG02735.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03453.hp2 HG03516.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0006 a0001c0001 a0002c0002 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0016 a0001c0001t0025 a0002c0002t0001 a0002c0002t0006 a0002c0002t0008 a0002c0002t0015 a0004c0006t0008	a0001c0001t0001g0080 a0001c0001t0002g0033 a0001c0001t0002g0057 others(22): Show a0001c0001t0001g0080 a0001c0001t0002g0033 a0001c0001t0002g0057 a0001c0001t0002g0078 a0001c0001t0004g0072 a0001c0001t0004g0077 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0006g0265 a0001c0001t0008g0024 a0001c0001t0008g0260 a0001c0001t0009g0025 a0001c0001t0009g0079 a0001c0001t0009g0081 a0001c0001t0011g0076 a0001c0001t0011g0259 a0001c0001t0016g0258 a0001c0001t0025g0261 a0002c0002t0001g0268 a0002c0002t0001g0270 a0002c0002t0006g0269 a0002c0002t0008g0272 a0002c0002t0015g0271 a0004c0006t0008g0141	33	444	0.0743	-18	c.771 others(35): Show c.771+2144_771+2161delTGCTTAATTTATAATACA	PAX9	ENSG00000198807.13	transcript	ENST00000361487.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr14	TogoVar

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