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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PLCL2_chr3_16879955_17095604	17063252	C C	CCCTCCCT others(281): Show CCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTGCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCT GCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCC CTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTGCCTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18906.hp2 HG03225.hp1 NA18906.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0154 a0002c0008t0001g0155 a0002c0008t0001g0154 a0002c0008t0001g0155	2	112	0.0179	288	c.309 others(307): Show c.3095-4701_3095-4700insCCCTCCCTCCCTCCCTCCCTGCCTTC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTTCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTGCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCT CCCTGCCTGCCT		PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCL2_chr3_16879955_17095604	17063252	C C	CCCTCCCT others(281): Show CCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCT GCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCC CTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTGCCTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0076 a0001c0002t0003g0076	1	111	0.0090	288	c.309 others(307): Show c.3095-4701_3095-4700insCCCTCCCTCCCTCCCTCCCTGCCTTC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTGCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTGC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCT CCCTGCCTGCCT		PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCL2_chr3_16879955_17095604	17063252	C C	CCCTCCCT others(281): Show CCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCT GCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCC CTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTGCCTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG01069.hp1 others(38): Show HG00099.hp1 HG00323.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01109.hp2 HG01175.hp1 HG01256.hp2 HG01433.hp1 HG01516.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp2 HG02922.hp1 HG02970.hp2 HG03098.hp2 HG03209.hp2 HG03453.hp2 HG03669.hp1 HG04228.hp1 NA18950.hp2 NA18966.hp1 NA19030.hp2 NA19088.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0004 a0001c0007 others(1): Show a0001c0002 a0001c0004 a0001c0007 a0004c0009	a0001c0002t0001 a0001c0004t0001 a0001c0004t0002 others(2): Show a0001c0002t0001 a0001c0004t0001 a0001c0004t0002 a0001c0007t0001 a0004c0009t0001	a0001c0002t0001g0007 a0001c0002t0001g0046 a0001c0002t0001g0047 others(38): Show a0001c0002t0001g0007 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0124 a0001c0002t0001g0199 a0001c0002t0001g0210 a0001c0002t0001g0214 a0001c0002t0001g0225 a0001c0002t0001g0236 a0001c0002t0001g0241 a0001c0004t0001g0162 a0001c0004t0001g0164 a0001c0004t0001g0165 a0001c0004t0001g0166 a0001c0004t0001g0167 a0001c0004t0001g0168 a0001c0004t0001g0169 a0001c0004t0002g0170 a0001c0004t0002g0172 a0001c0004t0002g0174 a0001c0007t0001g0242 a0004c0009t0001g0049	41	151	0.2715	288	c.309 others(307): Show c.3095-4701_3095-4700insCCCTCCCTCCCTCCCTCCCTGCCTTC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTGCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCT CCCTGCCTGCCT		PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCL2_chr3_16879955_17095604	17063252	C C	CCCTCCCT others(281): Show CCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCT GCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCC CTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTGCCTG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02165.hp2 NA18995.hp1 HG02132.hp2 HG02165.hp2 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0111 a0001c0002t0001g0116 a0001c0002t0001g0028 a0001c0002t0001g0111 a0001c0002t0001g0116	3	113	0.0265	288	c.309 others(307): Show c.3095-4701_3095-4700insCCCTCCCTCCCTCCCTCCCTGCCTTC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTGCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTGC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCT CCCTGCCTGCCT		PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCL2_chr3_16879955_17095604	17063252	C C	CCCTCCCT others(281): Show CCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTGCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTGCCTG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0176 a0001c0004t0001g0176	1	111	0.0090	288	c.309 others(307): Show c.3095-4701_3095-4700insCCCTCCCTCCCTCCCTGCCTTCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT GCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGC CTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCT CCCTGCCTGCCT		PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
PLEKHG4B_chr5_87168_194966	165871	G G	GGAGCTCA others(281): Show GGAGCTCACACTAATGCTCTGATGGGGCGGAGCTCACACACTAATGCTCT GACGGGGCGGAGCTCACACTAATGCTGTGACAGGGGGCGGGGCTCACAGT AATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCT CACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGC GGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTGTGA CAGGGGTCGGAGCTCACACAGTAATGCTGTGACGGGGCA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0006 a0006	a0006c0070 a0006c0070	a0006c0070t0046 a0006c0070t0046	a0006c0070t0046g0207 a0006c0070t0046g0207	1	204	0.0049	288	c.347 others(307): Show c.3476+2344_3476+2345insTGGGGCGGAGCTCACACACTAATGCT CTGACGGGGCGGAGCTCACACTAATGCTGTGACAGGGGGCGGGGCTCACA GTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGG CTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGG GCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTGT GACAGGGGTCGGAGCTCACACAGTAATGCTGTGACGGGGCAGAGCTCACA CTAATGCTCTGA		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
PLPP2_chr19_276043_296403	291551	A A	AGGGGAGG others(281): Show AGGGGAGGGGAGGAGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGC GGGGCGGGGAGGGGAGGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGCGG GGAGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCA GCGGCGGGCAGGGGAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAG GAGGGGAGGGAGGGGAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGC GGGGACGGCAGCGGCGGGCAGGGGAGCAGCGGGCGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG03942.hp2 HG04199.hp1 HG02698.hp1 HG03942.hp2 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	3	279	0.0108	288	c.-21 others(297): Show c.-216_-215insGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCGTC CCCGCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCCCTTCCCCTCCCTCCC CTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTCCCCTGCCCGC CGCTGCCGTCCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCC TCCCCGCCCCTCCCCTCCTCCCCTCTCCCCTGCTGCCCTCCCCTCCCCGC CCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCCTCCTCCCCTCC CC		PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding					149		chr19	TogoVar
PLXNB2_chr22_50269979_50312646	50285292	C C	CCCCTCCC others(281): Show CCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCT CCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCCTCCCTCCGCACCT GAGCCTGCCTGTCACCAACCGGCACCCCCTCCCTCCGTACCTGAGCCTGC CTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCG GCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACC CCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02071.hp1 NA18945.hp2 others(3): Show HG01109.hp2 HG02071.hp1 NA18945.hp2 NA18952.hp2 NA18973.hp1 NA18973.hp2	a0002 a0004 a0002 a0004	a0002c0034 a0004c0021 a0004c0033 others(1): Show a0002c0034 a0004c0021 a0004c0033 a0004c0070	a0002c0034t0001 a0004c0021t0001 a0004c0033t0001 others(1): Show a0002c0034t0001 a0004c0021t0001 a0004c0033t0001 a0004c0070t0002	a0002c0034t0001g0088 a0002c0034t0001g0271 a0004c0021t0001g0268 others(3): Show a0002c0034t0001g0088 a0002c0034t0001g0271 a0004c0021t0001g0268 a0004c0033t0001g0264 a0004c0033t0001g0290 a0004c0070t0002g0239	6	300	0.0200	288	c.208 others(305): Show c.2088+507_2088+508insTGCCGGCCGGTGACAGGCAGGCTCAGGT GCGGAGGGAGGGGTGCCGGCCGGTGACAGGCAGGCTCAGGTGCGGAGGGA GGGGTGCCGGCCGGTGACAGGCAGGCTCAGGTGCGGAGGGAGGGGTGCCG GCCGGTGACAGGCAGGCTCAGGTACGGAGGGAGGGGGTGCCGGTTGGTGA CAGGCAGGCTCAGGTGCGGAGGGAGGGGGTGCCGGCCGGTGACAGGCAGG CTCAGGTGCGGAGGGAGGGGTGCCGGCCGGTGACAGGCAGGCTCAGGTGC GGAGGGAGGG		PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	11/36						chr22	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(281): Show TTTATATATAATATATAATATATATTTATATAAAAATATATTATATATAA TATAATATATATTATATATAATATATATTTATATATAATATATATTATAT ATAAAAATATATTTATATATATTATATTATATATAATATATTATATATAA TATATTATATATAATATATTATATATATTATATATAATATATTATATATA TTATATTATATATAATATATTATATATATTATATTATATATAATATATTA TATATATTATATTATATATAATATATTATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	31	0.0323	288	c.-50 others(299): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATAATATAATATATATAATATATTATATATAA TATAATATATATAATATATTATATATAATATATATAATATATTATATATA ATATATTATATATAATATATTATATATAATATAATATATATAAATATATT TTTATATATAATATATATTATATATAAATATATATTATATATAATATATA TTATATTATATATAATATATTTTTATATAAATATATATTATATATTATAT ATAA		PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding					4623		chrX	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(281): Show TTTATATATAATATATAATATATATTTATATAAAAATATATTATATATAA TATAATATATATTATATATAATATATATTTATATATAATATATATTATAT ATAAAAATATATTTATATATATTATATTATATATAATATATTATATATAT TATATTATATATAATATATTATATATATTATATATAATATATTATATATA TTATATTATATATAATATATTATATATATTATATTATATATAATATATTA TATATATTATATTATATATAATATATTATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01993.hp2 others(2): Show HG01257.hp2 HG01258.hp1 HG01993.hp2 NA18947.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0002 a0001c0001t0001g0007	5	35	0.1429	288	c.-50 others(299): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATAATATAATATATATAATATATTATATATAA TATAATATATATAATATATTATATATAATATATATAATATATTATATATA ATATAATATATATAATATATTATATATAATATAATATATATAAATATATT TTTATATATAATATATATTATATATAAATATATATTATATATAATATATA TTATATTATATATAATATATTTTTATATAAATATATATTATATATTATAT ATAA		PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding					4623		chrX	TogoVar
POU6F1_chr12_51181936_51223062	51197043	T T	TGTCTACC others(281): Show TGTCTACCGGCTGGATGGTTTCCAGGGCTAGGGGTCTACCGGCTGGATGG TTTCCAGGGCTAGGGGTCTACCGGCTGGATGGTTTCCAGGGCTAGGGGTC TACCGGCTGGATGGTTTCCAGGGCTAGGGGTCTACCGGCTGGATGGTTTC CAGGGCTAGGGGTCTACCGGCTGGATGGTTTCCAGGGCTAGGGGTCTACC GGCTGGATGGTTTCCAGGGCTAGGGGTCTACCGGCTGGATGGTTTCCAGG GCTAGGGGTCTACCGGCTGGATGGTTTCCAGGGCTAGGG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	146	0.0068	288	c.847 others(303): Show c.847-117_847-116insCCCTAGCCCTGGAAACCATCCAGCCGGTAG ACCCCTAGCCCTGGAAACCATCCAGCCGGTAGACCCCTAGCCCTGGAAAC CATCCAGCCGGTAGACCCCTAGCCCTGGAAACCATCCAGCCGGTAGACCC CTAGCCCTGGAAACCATCCAGCCGGTAGACCCCTAGCCCTGGAAACCATC CAGCCGGTAGACCCCTAGCCCTGGAAACCATCCAGCCGGTAGACCCCTAG CCCTGGAAACCATCCAGCCGGTAGACCCCTAGCCCTGGAAACCATCCAGC CGGTAGAC		POU6F1	ENSG00000184271.18	transcript	ENST00000333640.12	protein_coding	6/10						chr12	TogoVar
PPM1L_chr3_160751231_161083902	160945128	T T	TAACATGT others(281): Show TAACATGTTATATATAACTATATATAACATGTTATATATAACTATATATA ACATGTTATATATAACTATATATAACATGTTATATATAACTATATATAAC ATGTTATATATAACTATATATAACATGTTATATATAACTATATATAACAT GTTATATATAACTATATATAACATGTTATATATAACTATATATAACATGT TATATATAACTATATATAACATGTTATATATAACTATATATAACATGTTA TATATAACTATATATAACATGTTATATATAACATATATG	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18968.hp2 NA18982.hp2 others(1): Show HG00423.hp2 NA18968.hp2 NA18982.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0159 others(1): Show a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0159 a0001c0001t0002g0170	4	191	0.0209	288	c.400 others(307): Show c.400-16608_400-16607insAACATGTTATATATAACTATATATAA CATGTTATATATAACTATATATAACATGTTATATATAACTATATATAACA TGTTATATATAACTATATATAACATGTTATATATAACTATATATAACATG TTATATATAACTATATATAACATGTTATATATAACTATATATAACATGTT ATATATAACTATATATAACATGTTATATATAACTATATATAACATGTTAT ATATAACTATATATAACATGTTATATATAACTATATATAACATGTTATAT ATAACATATATG		PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3						chr3	TogoVar
PPP1R12B_chr1_202343699_202597702	202458119	A A	AGTTTTGT others(281): Show AGTTTTGTTTTTCAAAGAAACCCAAGACTGGTATTCCACTGGAGAAACTT TGGAAATTGTCAAGCTAGAGAGGTAGGCAGGAACCAAATCATGTAGATTT TTGTCTGTACTATGCTAAGAAATTTGAATTTCTAGTCTCAAAGCTATGGA ATACAATTGAGGGAATAAATAGGATCACTCAAAAGCTTTCTTAGGGTCAT TCCTCTCTGGGGAATGGGGAGAGTGGGACGTGGGAGTGGTTAGGGAATTT GCAGCATTTTCCAAATTTCTGAGTCCATCTAGTAGTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA19002.hp1 NA19091.hp2 HG02523.hp2 NA19002.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0084 a0001c0001t0015 a0001c0001t0084	a0001c0001t0015g0021 a0001c0001t0015g0024 a0001c0001t0084g0018 a0001c0001t0015g0021 a0001c0001t0015g0024 a0001c0001t0084g0018	3	150	0.0200	288	c.185 others(307): Show c.1850+9112_1850+9399dupATAAATAGGATCACTCAAAAGCTTTC TTAGGGTCATTCCTCTCTGGGGAATGGGGAGAGTGGGACGTGGGAGTGGT TAGGGAATTTGCAGCATTTTCCAAATTTCTGAGTCCATCTAGTAGTTTTG TTTTGTTTTTCAAAGAAACCCAAGACTGGTATTCCACTGGAGAAACTTTG GAAATTGTCAAGCTAGAGAGGTAGGCAGGAACCAAATCATGTAGATTTTT GTCTGTACTATGCTAAGAAATTTGAATTTCTAGTCTCAAAGCTATGGAAT ACAATTGAGGGA		PPP1R12B	ENSG00000077157.23	transcript	ENST00000608999.6	protein_coding	13/23					INFO_REALIGN_3_PRIME	chr1	TogoVar
PPP1R14C_chr6_150138044_150255392	150197676	C C	CCACGGTG others(281): Show CCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCC ACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGGGCCCCTGGCCGCCAC GGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCCACGG TGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGGCGCCACGGTG GAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCCACGGTGGA GGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGCCCGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01192.hp2 HG01891.hp2 others(17): Show HG00099.hp2 HG01192.hp2 HG01891.hp2 HG01975.hp2 HG02055.hp1 HG02135.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02976.hp1 HG03017.hp1 HG03130.hp1 HG03540.hp2 HG03688.hp1 HG04228.hp1 NA18522.hp1 NA18962.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0002c0002t0001 a0002c0002t0003 a0002c0002t0011	a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0048 others(17): Show a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0048 a0001c0001t0001g0129 a0001c0001t0003g0005 a0001c0001t0003g0053 a0001c0001t0003g0145 a0001c0001t0003g0158 a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0006g0020 a0001c0001t0006g0297 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0214 a0002c0002t0003g0309 a0002c0002t0003g0310 a0002c0002t0011g0248 a0002c0002t0011g0249 a0002c0002t0011g0250	20	303	0.0660	288	c.307 others(307): Show c.307-16985_307-16984insGGCCCCTGGCCGCCACGGTGGAGGAG GGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGG CCTGGATGCCCGGCTTTGTGTGCCCCTGGGCGCCACGGTGGAGGAGGGCC TGGATGCCCGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTG GATGCCCGGCTTTGTGTGCCCCTGCCCGTCACGGTGGAGGAGGGCCTGGA TGCCCGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATG CCCGGCTTTGTG		PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP1R14C_chr6_150138044_150255392	150197841	A A	ATGCCCGG others(281): Show ATGCCCGGCTTTGTGTGCCCCTGGGCGCCACGGTGGAGGAGGGCCTGGAT GCCCGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGC CCGGCTTTGTGTGCCCCTGCCCGTCACGGTGGAGGAGGGCCTGGATGCCC GGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCGG CTTTGTGTGCCCCTGGCCACCATGGTGGAGGAGGGCCTGGATGCCCGGCT TTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0231 a0002c0002t0004g0231	1	287	0.0035	288	c.307 others(307): Show c.307-16881_307-16880insGGCGCCACGGTGGAGGAGGGCCTGGA TGCCCGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATG CCCGGCTTTGTGTGCCCCTGCCCGTCACGGTGGAGGAGGGCCTGGATGCC CGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCG GCTTTGTGTGCCCCTGGCCACCATGGTGGAGGAGGGCCTGGATGCCCGGC TTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGGTGCCCGGCTT TGTGTGCCCCTG		PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP1R14C_chr6_150138044_150255392	150197841	A A	ATGCCCGG others(281): Show ATGCCCGGCTTTGTGTGCCCCTGGGCGCCACGGTGGAGGAGGGCCTGGAT GCCCGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGC CCGGCTTTGTGTGCCCCTGCCCGTCACGGTGGAGGAGGGCCTGGATGCCC GGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCGG CTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCGGCT TTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01993.hp1 HG03540.hp1 HG01943.hp1 HG01993.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0010 a0001c0001t0003 a0002c0002t0010	a0001c0001t0003g0045 a0001c0001t0003g0046 a0002c0002t0010g0295 a0001c0001t0003g0045 a0001c0001t0003g0046 a0002c0002t0010g0295	3	289	0.0104	288	c.307 others(307): Show c.307-16881_307-16880insGGCGCCACGGTGGAGGAGGGCCTGGA TGCCCGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATG CCCGGCTTTGTGTGCCCCTGCCCGTCACGGTGGAGGAGGGCCTGGATGCC CGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCG GCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCGGC TTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGGTGCCCGGCTT TGTGTGCCCCTG		PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP6R2_chr22_50338327_50450090	50397547	A A	AGGGGGGC others(281): Show AGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCA TCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGC CTGTCCTCACCAGCCTTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTG ACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCCCTCT GAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0017 a0017	a0017c0024 a0017c0024	a0017c0024t0007 a0017c0024t0007	a0017c0024t0007g0031 a0017c0024t0007g0031	1	181	0.0055	288	c.227 others(305): Show c.227+3417_227+3418insGCCTGTCCTCACCAGCCCTGTCATCTCT GAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTC CTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGG ATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCCCTCTGAGCTT TTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCA GCCTTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGG GGCAGGGGGG		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
PRAM1_chr19_8485056_8507640	8499590	G G	GGCGGGGG others(281): Show GGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTT GGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGA CCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGG GGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAG GTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAG GCGGCGGGGGCTTCTTGGGGAGGTCAGTGAACTGAGGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02109.hp1 HG02895.hp2 HG02897.hp1 others(3): Show HG02109.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG03130.hp2 NA18522.hp1	a0011 a0011	a0011c0013 a0011c0026 a0011c0013 a0011c0026	a0011c0013t0002 a0011c0026t0002 a0011c0013t0002 a0011c0026t0002	a0011c0013t0002g0023 a0011c0013t0002g0190 a0011c0026t0002g0055 a0011c0013t0002g0023 a0011c0013t0002g0190 a0011c0026t0002g0055	6	288	0.0208	288	c.217 others(295): Show c.217_218insAGCCTCAGTTCACTGACCTCCCCAAGAAGCCCCCGCCG CCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGA CCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGC CCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAG GTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGACCTCCC CAAGAAGCCCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGC	p.Pro others(299): Show p.Pro72_Pro73insGlnProGlnPheThrAspLeuProLysLysProP roProProGluValThrAspLeuProLysLysProProProProGluVal ThrAspLeuProLysLysProProProProGluValThrAspLeuProLy sLysProProProProGluValThrAspLeuProLysLysProProProP roGluValThrAspLeuProLysLysProProProProGluValThrAsp LeuProLysLysProProProProGluValThrAspLeuProLysLysPr oPro	PRAM1	ENSG00000133246.12	transcript	ENST00000423345.5	protein_coding	2/10	266/2195	217/2013	73/670			chr19	TogoVar
PRDM16_chr1_3064203_3443621	3163293	G G	GTCTAGAG others(281): Show GTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGT CTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCT AGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAG AGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAGAG GGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAGAGGG CTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03579.hp2 NA20129.hp1 HG01109.hp1 HG03579.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0017 a0002c0003 a0001c0001 a0001c0017 a0002c0003	a0001c0001t0072 a0001c0017t0054 a0002c0003t0007 a0001c0001t0072 a0001c0017t0054 a0002c0003t0007	a0001c0001t0072g0008 a0001c0017t0054g0134 a0002c0003t0007g0103 a0001c0001t0072g0008 a0001c0017t0054g0134 a0002c0003t0007g0103	3	206	0.0146	288	c.38- others(305): Show c.38-22805_38-22804insGCGCAGAAGCCCCTGGCATGGTCTAGAG GGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGG CTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAGAGGGCT TTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTT GGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGG GAGAGGGGATGTCCGCAGAAGCCCCTGGCATGTTCTAGAGGGCTTTGGGA GAGGGGATGT		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3428175	A A	ACTGCAGG others(281): Show ACTGCAGGAGACCCACCAGGACCCCGAGCTAGGGTGCAGCCCGGCCGCGC TGCAGGAGACCCACCAGGACCCCGAGCTAGGGTGCAGCCCGGCCGCGCTG CAGGAGACCCACCAGGACCCCGAGCTAGGGTGCAGCCCGGCCACGCTGCA GGAGACCCACCAGGACCCCGAGCTAGGGTGCAGCCCGGCCGCACTGCAGG AGACCCACCAGGACCCCGAGCTAGGGTGCAGCCCGGCCGCGCTGCAGGAG ACCCACCAGGACCCCGAGCTAGGGTGCAGCCCGGCCACG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03453.hp2 HG03130.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0004 a0001c0001t0001 a0001c0004t0004	a0001c0001t0001g0006 a0001c0004t0004g0051 a0001c0001t0001g0006 a0001c0004t0004g0051	2	170	0.0118	288	c.328 others(307): Show c.3284+1997_3284+1998insGCTGCAGGAGACCCACCAGGACCCCG AGCTAGGGTGCAGCCCGGCCGCGCTGCAGGAGACCCACCAGGACCCCGAG CTAGGGTGCAGCCCGGCCACGCTGCAGGAGACCCACCAGGACCCCGAGCT AGGGTGCAGCCCGGCCGCACTGCAGGAGACCCACCAGGACCCCGAGCTAG GGTGCAGCCCGGCCGCGCTGCAGGAGACCCACCAGGACCCCGAGCTAGGG TGCAGCCCGGCCACGCTGCAGGAGACCCACCAGGACCCCGAGCTAGGGTG CAGCCCGGCCGC		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	14/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122498	C C	CGGCTGTA others(281): Show CGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGG GTCACGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGT TAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTA TAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCGTCATG GTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGT CATGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGGTCAT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	166	0.0060	288	c.335 others(307): Show c.335-12762_335-12761insCTGTAGTTAGGGTCATGGTGGTAGTT AGGGTCACGGCTGTAGTTAGGGTCACGGTGGTAGTTAGGATCATGGCTGT AGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGG TGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTC ACAGCGATAGTTAGCGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAG GGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTGTAG TTAGGGTCATGG		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122952	G G	GGTAGTTA others(281): Show GGTAGTTAGGGTCATGGCTGTAGTTAGGATCATGGCTGTAGTTAGGGTCA TGGTGGTAGTTAGGGTCACGGCGGTAGTTAGGATCATGGCTGTAGTTAGG ATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGTGGTAGT TAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGG TAGTTAGGGTCACGGCTGTAGTTAGGGTCACGGCGGTAGTTAGGATCATG GCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0128 a0001c0003t0001g0128	1	225	0.0044	288	c.335 others(307): Show c.335-12294_335-12293insCTGTAGTTAGGATCATGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCACGGCGGTAGTTAGGATCATGGCTGT AGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGG TGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCACGGCGGTAGTTAG GATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAG TTAGGGTCATGG		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123536	G G	GTCATGGT others(281): Show GTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGT TAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTG GTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCAT GGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGG TCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0131 a0001c0006t0001g0131	1	184	0.0054	288	c.335 others(307): Show c.335-11725_335-11724insCATGGTGGTAGTTAGGGTCACGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGT CGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGG TCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTT AGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGT AGTTAGGGTCAT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124029	C C	CTGTAGTT others(281): Show CTGTAGTTAGGGTCAAGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTGGTTAG GGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGTGGTAG TTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTG GTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCAT GGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0255 a0001c0003t0001g0255	1	159	0.0063	288	c.335 others(307): Show c.335-11233_335-11232insTGTAGTTAGGGTCAAGGTGGTAGTTA GGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTA GTTAGGGTCATGGTGGTGGTTAGGGTCACGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA TGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGT TAGGATCATGGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17						chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124242	C C	CAGCGATA others(281): Show CAGCGATAGTTAGCGTCATGGTGGTGGTTAGGGTCACGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGT TAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGGTCACGGTGGTGGTTAGGGTCACAGCGATAGTTAGCGTCATG GTGGTGGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGT CACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp2 HG00733.hp1 HG00733.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0136 a0001c0003t0001g0258 a0001c0003t0001g0136 a0001c0003t0001g0258	2	171	0.0117	288	c.335 others(307): Show c.335-11020_335-11019insAGCGATAGTTAGCGTCATGGTGGTGG TTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGTG GTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCAT GGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGG TCACAGCGATAGTTAGCGTCATGGTGGTGGTTAGGGTCACGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGT AGTTAGGGTCAT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17						chr1	TogoVar
PRPF31_chr19_54110754_54136713	54133769	C C	CTCCCTCC others(281): Show CTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCT CTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTTCCCTGTCTCCACCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTC CCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCC CCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	199	0.0050	288	c.23 others(299): Show c.2337_*2338insTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCC CTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCT CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCTCTCTCCACCTCCC CTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTC CACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTC CCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTC TCTG		PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding					2057		chr19	TogoVar
PRUNE2_chr9_76606376_76911114	76716027	A A	AAAGAAGA others(281): Show AAAGAAGACACACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTT TCTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0005 a0013c0017t0005	a0013c0017t0005g0010 a0013c0017t0005g0010	1	227	0.0044	288	c.757 others(305): Show c.757-2307_757-2306insGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAGAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGT GTGTCTTCTT		PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18						chr9	TogoVar
PTPN2_chr18_12787152_12889237	12884832	T T	TAAGAAAA others(281): Show TAAGAAAACGTCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGC CTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	365	0.0027	288	c.-69 others(297): Show c.-692_-691insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTG CAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGACGTTTTC TT		PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding					596		chr18	TogoVar
PTPRM_chr18_7562316_8411856	7985469	G G	GTATATAA others(281): Show GTATATAAATATATACATATACTGGTAGATACGTAAATATATACATATAC TGGTAGATGCGTATATAAATATATACATATACTGGTAGATACGTATATAA ATATATACATATACTGGTAGATACGTATATAAATATATACATATACTGGT AGATACGTATATAAATATATACATATACTGGTAGATACGTATATAAATAT ATACATATACTGGTAGATACGTATATAAATATATACATATACTGGTAGAT ACGTATATAAATATATACATATACTGGTAGATACGTATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02896.hp2 HG02280.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0059 a0001c0003t0002g0033 a0001c0001t0001g0059 a0001c0003t0002g0033	2	23	0.0870	288	c.113 others(309): Show c.1132+30057_1132+30058insTATAAATATATACATATACTGGTA GATACGTAAATATATACATATACTGGTAGATGCGTATATAAATATATACA TATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTA TATAAATATATACATATACTGGTAGATACGTATATAAATATATACATATA CTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTATATA AATATATACATATACTGGTAGATACGTATATAAATATATACATATACTGG TAGATACGTATATA		PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32					INFO_REALIGN_3_PRIME	chr18	TogoVar
PYM1_chr12_55896413_55932894	55905863	A A	ATATATAT others(281): Show ATATATATCTATTAGATATATATATTATTATATATATCTATTAGATATAT ATATTATTATATATATCTATTAGATATATATATTATTATATATATCTATT AGATATATATATTATTATATATATCTAATAGATATATATATTATTATATA TATCTAATAGATATATATATTATTATATATATCTAATAGATATATATATT ATTATATATATCTAATAGATATATATATTATTATATATATCTAATAGATA TATATATTATTATATATATCTAATAGATATATATATTAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA19082.hp2 HG02004.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0041 a0001c0001t0002g0043	2	257	0.0078	288	c.38- others(303): Show c.38-2384_38-2383insATAATATATATATCTATTAGATATATATAA TAATATATATATCTATTAGATATATATAATAATATATATATCTATTAGAT ATATATAATAATATATATATCTATTAGATATATATAATAATATATATATC TATTAGATATATATAATAATATATATATCTATTAGATATATATAATAATA TATATATCTAATAGATATATATAATAATATATATATCTAATAGATATATA TAATAATATATATATCTAATAGATATATATAATAATATATATATCTAATA GATATATA		PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2						chr12	TogoVar
PYM1_chr12_55896413_55932894	55905863	A A	ATATATAT others(281): Show ATATATATCTATTAGATATATATATTATTATATATATCTATTAGATATAT ATATTATTATATATATCTATTAGATATATATATTATTATATATATCTATT AGATATATATATTATTATATATATCTATTAGATATATATATTATTATATA TATCTAATAGATATATATATTATTATATATATCTAATAGATATATATATT ATTATATATATCTAATAGATATATATATTATTATATATATCTAATAGATA TATATATTATTATATATATCTAATAGATATATATATTAT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	256	0.0039	288	c.38- others(303): Show c.38-2384_38-2383insATAATATATATATCTATTAGATATATATAA TAATATATATATCTATTAGATATATATAATAATATATATATCTATTAGAT ATATATAATAATATATATATCTATTAGATATATATAATAATATATATATC TATTAGATATATATAATAATATATATATCTAATAGATATATATAATAATA TATATATCTAATAGATATATATAATAATATATATATCTAATAGATATATA TAATAATATATATATCTAATAGATATATATAATAATATATATATCTAATA GATATATA		PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2						chr12	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(281): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGG CCCACCAGGCCCACCATCCCCATCAGGCCCACCATCCCCACCAGGCCCAC CATCCCCACCATCCCCACCAGGCCCACCATCCCCATCAGGCCCACCATCC CCACCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACC AGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGG	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	119	0.0084	288	c.397 others(301): Show c.397-73_397-72insCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGG TGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGC CTGGTGGGGATGGTGGGCCTGATGGGGATGGTGGGCCTGGTGGGGATGGT GGGGATGGTGGGCCTGGTGGGGATGGTGGGCCTGATGGGGATGGTGGGCC TGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTG GGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGAT GGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985773	C C	CCCCACCA others(281): Show CCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCA CCATCCCCACCATCCCCACCAGGCCCACCATCCCCATCAGGCTCACCAGG CCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCATCCCCAC CAGGCCCACCATCCCCATCAGGCTCACCAGGCCCACCATCCCCACCAGGC CCACCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACC AGGCCTACCAGGCCCACCATCCCCATCAGGCCCACCAGG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	326	0.0031	288	c.397 others(303): Show c.397-109_397-108insCCTGGTGGGCCTGATGGGGATGGTGGGCCT GGTAGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGG GCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGAGCCTGATGGGGATG GTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGG GATGGTGGGCCTGGTGAGCCTGATGGGGATGGTGGGCCTGGTGGGGATGG TGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGC CTGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RABL3_chr3_120679938_120747516	120706613	A A	ACAATTGC others(281): Show ACAATTGCTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCA GTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCG CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp2 HG01081.hp2 others(4): Show HG00140.hp2 HG01070.hp2 HG01081.hp2 HG01169.hp2 HG03491.hp1 HG03492.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0032 a0001c0001t0004g0055 a0001c0001t0004g0171 others(2): Show a0001c0001t0004g0032 a0001c0001t0004g0055 a0001c0001t0004g0171 a0001c0001t0004g0182 a0001c0001t0008g0020	7	320	0.0219	288	c.269 others(303): Show c.269-500_269-499insGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAT AGCAATTG		RABL3	ENSG00000144840.10	transcript	ENST00000273375.8	protein_coding	3/7						chr3	TogoVar
RAD17_chr5_69364818_69419801	69377680	T T	TATATATG others(281): Show TATATATGCATATATATGTATGCATATATATATGCATATATATGTATACA TATATATGCATATATATGTATACATATATATGCATATATATGTATACATA TATATGCATATATATATGCATACATATATATGCATACATATATGCATGCA TATATATATGCATACATATATGCATGCATATATATATGCATACATATATG CATGCATATATATATGCATACATATATGCATGCATATATATATGTATACA TATATGTATGCATATATATATGTATACATATATGTATGC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	342	0.0029	288	c.351 others(305): Show c.351+2975_351+2976insGCATATATATGTATGCATATATATATGC ATATATATGTATACATATATATGCATATATATGTATACATATATATGCAT ATATATGTATACATATATATGCATATATATATGCATACATATATATGCAT ACATATATGCATGCATATATATATGCATACATATATGCATGCATATATAT ATGCATACATATATGCATGCATATATATATGCATACATATATGCATGCAT ATATATATGTATACATATATGTATGCATATATATATGTATACATATATGT ATGCATATAT		RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18					INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD51C_chr17_58687602_58740611	58726417	T T	TATATGTA others(281): Show TATATGTATATATGTGTATACGTATAGATGTATATACATATGTATATATG TGTATACGTATAGATGTATATACATATGTATATATGTGTATACGTATAGA TGTATATACATATGTATATATGTGTATACGTATAGATGTATATACATATG TATATATGTGTATACGTATAGATGTATATACATATGTATATATGTGTATA CGTATAGATGTATATACATATGTATATATGTGTATACGTATAGATGTATA TACATATGTATATATGTGTATACGTATAGATGTATATAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	74	0.0135	288	c.965 others(305): Show c.965+2444_965+2445insCGTATAGATGTATATACATATGTATATA TGTGTATACGTATAGATGTATATACATATGTATATATGTGTATACGTATA GATGTATATACATATGTATATATGTGTATACGTATAGATGTATATACATA TGTATATATGTGTATACGTATAGATGTATATACATATGTATATATGTGTA TACGTATAGATGTATATACATATGTATATATGTGTATACGTATAGATGTA TATACATATGTATATATGTGTATACGTATAGATGTATATACATATGTATA TATGTGTATA		RAD51C	ENSG00000108384.16	transcript	ENST00000337432.9	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
RALGAPA2_chr20_20384530_20717644	20458860	A A	ATATATAT others(281): Show ATATATATATAGACCTATATATATATAGACCTATATATATATAGACCTAT ATATATAGACCTATATATATATAGACCTATATATATAGACCTATATATAT ATAGACCTATATATATAGACCTATATATATATAGACCTATATATATATAT AGACCTATATATATAGACCTATATATATATAGACCTATATATATATATAG ACCTATATATATATATATAGACCTATATATATATAGACCTATATATATAT AGACCTATATATATATAGACCTATATATATATATAGATC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02280.hp1 HG02630.hp1 others(1): Show HG01243.hp1 HG02280.hp1 HG02630.hp1 HG03041.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0005c0012 a0001c0003 a0005c0012	a0001c0003t0002 a0001c0003t0017 a0005c0012t0001 a0001c0003t0002 a0001c0003t0017 a0005c0012t0001	a0001c0003t0002g0079 a0001c0003t0002g0080 a0001c0003t0017g0082 others(1): Show a0001c0003t0002g0079 a0001c0003t0002g0080 a0001c0003t0017g0082 a0005c0012t0001g0081	4	119	0.0336	288	c.549 others(309): Show c.5495+13968_5495+13969insGATCTATATATATATATAGGTCTA TATATATATAGGTCTATATATATATAGGTCTATATATATATAGGTCTATA TATATATATATAGGTCTATATATATATATAGGTCTATATATATATAGGTC TATATATATAGGTCTATATATATATATAGGTCTATATATATATAGGTCTA TATATATAGGTCTATATATATATAGGTCTATATATATAGGTCTATATATA TATAGGTCTATATATATAGGTCTATATATATATAGGTCTATATATATATA GGTCTATATATATA		RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	37/39						chr20	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(281): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATGCATACATATG TATGTGTATGCATACATATGTATGTGTATGCATACATATGTATGTATGTG TATACATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTA TACATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATACATA CATACGTATGTATGTGTATACATACGTATGTATGTGTATACATACATACG TATGTATGTGTACACATACGTATGTATGTGTACACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	324	0.0031	288	c.-23 others(299): Show c.-2310_-2309insGTATGTGTACACATACATACGTATGTGTACACAT ACATACGTATGTATGTATACACATACATACGTATGTATACACATACATAC GTATGTATGTATACACATACATACGTATGTATACACATACATACATACGT ATGTATACACATACATACATACGTATGTATACACATACATACATACGTAT GTATACACATACATACATATGTATGCATACACATACATATGTATGCATAC ACATACATATGTATGCATACACATACATATGTATGCATACACATACATAC ATAC		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759499	G G	GTATGTAT others(281): Show GTATGTATGTGTATGCATACATATGTATGTGTATACATACGTATGTATGT ATGTGTATACATACGTATGTATGTGTATACATACGTATGTATGTATGTGT ATACATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTAT ACATACGTATGTATGTATGTGTATACATACGTATGTGTATACATACATAC GTATGTGTATACATACATACGTATGTATGTGTATACATACATACGTATGT ATGTGTATACATACATACGTATGTATGTGTATACATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	383	0.0052	288	c.-23 others(299): Show c.-2315_-2314insTGTATGTATACACATACATACGTATGTATGTATA CACATACATACGTATGTATGTATACACATACATACGTATGTATGTATACA CATACGTATGTATGTATACACATACGTATGTATACACATACATACATACG TATGTATACACATACATACATACGTATGTATACACATACATACATACGTA TGTATACACATACATACATACGTATGTATACACATACATACGTATGTATA CACATACATACATACGTATGTATACACATACATATGTATGCATACACATA CATA		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2090		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759512	T T	TGCATACA others(281): Show TGCATACATATGTATGTGTATGCATACATATGTATGTGTATGCATACATA TGTATGTGTATGCATACATATGTATGTATGTGTATACATACGTATGTATG TATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTA TGTGTATACATACGTATGTATGTGTATACATACATATGTATGTATGTGTA TACATACGTATGTATGTGTATACATACATACGTATGTATGTGTACACATA CGTATGTATGTGTATACATACATACGTATGTATGTGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18948.hp2 NA18994.hp1 NA18943.hp1 NA18948.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	3	379	0.0079	288	c.-23 others(299): Show c.-2328_-2327insGTACACATACATACGTATGTATGTATACACATAC ATACGTATGTGTACACATACATACGTATGTATGTATACACATACATACGT ATGTATACACATACATACATATGTATGTATACACATACATACGTATGTAT ACACATACATACATACGTATGTATACACATACATACATACGTATGTATAC ACATACATACATACGTATGTATACACATACATACATATGTATGCATACAC ATACATATGTATGCATACACATACATATGTATGCATACACATACATATGT ATGC		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2103		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759522	T T	TGTATGTG others(281): Show TGTATGTGTATGCATACGTATGTATGTGTATGCATACGTATGTATGTATG TGTATGCATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTG TATACATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATACA TACATACGTATGTATGTGTACACATACATACGTATGTATGTGTACACATA CATACGTATGTATGTGTACACATACGTATGTATGTGTACACATACATACG TATGTATGTGTACACATACGTATGTATGTGTACACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	389	0.0026	288	c.-23 others(299): Show c.-2338_-2337insGTATGTGTACACATACATACGTATGTGTACACAT ACATACGTATGTATGTGTACACATACATACGTATGTGTACACATACATAC GTATGTATGTGTACACATACATACGTATGTATGTGTACACATACATACGT ATGTATGTATACACATACATACGTATGTATACACATACATACATACGTAT GTATACACATACATACATACGTATGTATACACATACATACATACGTATGC ATACACATACATACATACGTATGCATACACATACATACGTATGCATACAC ATAC		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2113		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759610	C C	CATACGTA others(281): Show CATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTATACA TACGTATGTGTATACATACATACGTATGTGTATACATACATACGTATGTA TGTGTATACATACATACGTATGTATGTGTATACATACATATGTATGTGTA TACATACATACGTATGTATGTGTATACATACATACGTATGTATGTGTATA CATACGTATGTATGTATGTGTATACATACATACGTATGTATGTATGTGTA TACATACGTATGTATGTGTATACATACGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	402	0.0025	288	c.-24 others(299): Show c.-2426_-2425insACACATACATACGTATGTATACACATACATACGT ATGTATACACATACATACATACGTATGTATGTATACACATACATACATAC GTATGTATACACATACATACGTATGTATGTATACACATACATACGTATGT ATGTATACACATACATATGTATGTATACACATACATACGTATGTATGTAT ACACATACATACGTATGTATGTATACACATACGTATGTATGTATACACAT ACGTATGTATACACATACATACATACGTATGTATACACATACATACATAC GTAT		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2201		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759634	C C	CATACGTA others(281): Show CATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTATACA TACGTATGTATGTATGTGTATACATACGTATGTGTATACATACATACGTA TGTGTATACATACATACGTATGTATGTGTATACATACATACGTATGTATG TGTATACATACATATGTATGTGTATACATACATACGTATGTATGTGTATA CATACATACGTATGTATGTGTATACATACATACGTATGTATGTGTATACA TACGTATGTATGTGTATACATACGTATGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	413	0.0024	288	c.-24 others(299): Show c.-2450_-2449insACACATACATACATACGTATGTATACACATACAT ACGTATGTATACACATACATACGTATGTATGTATACACATACATACGTAT GTATGTATACACATACATACGTATGTATGTATACACATACATATGTATGT ATACACATACATACGTATGTATGTATACACATACATACGTATGTATGTAT ACACATACGTATGTATGTATACACATACGTATGTATACACATACATACAT ACGTATGTATACACATACATACATACGTATGTATACACATACATACATAC GTAT		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2225		chr3	TogoVar
RNASE10_chr14_20500537_20518884	20505261	G G	GCTCCCTC others(281): Show GCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	29	0.0345	288	c.-76 others(297): Show c.-764_-763insCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CT		RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding					275		chr14	TogoVar
RPH3AL_chr17_207389_357807	340763	G G	GCCCCCCT others(281): Show GCCCCCCTCCCAGGCCTCCCCACATCCACACTCACTGCCTCCCACCCAGG CCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACATCCA ATCTCACTGCCCCGACCCAGGCCTCCCCACATCCACACTCACTGCCCCCC ACCCAGGCCTCCCCACATCCACACTCACTGTCCCCCACCCAGGCTTCCCC ACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACATCCACACTCAC TGCCCCGGGCTCAGGCCTCCCCACATCCACACTCACTGC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0105 a0001c0001t0006g0105	1	132	0.0076	288	c.-21 others(307): Show c.-212-6830_-212-6829insGCAGTGAGTGTGGATGTGGGGAGGCC TGAGCCCGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGCAG TGAGTGTGGATGTGGGGAAGCCTGGGTGGGGGACAGTGAGTGTGGATGTG GGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTC GGGGCAGTGAGATTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGT GGATGTGGGGAGGCCTGGGTGGGAGGCAGTGAGTGTGGATGTGGGGAGGC CTGGGAGGGGGG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9						chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743947	C C	CCCTGGTT others(281): Show CCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTAC TAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGG TTACGAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01496.hp1 HG00099.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0026 a0001c0001 a0001c0026	a0001c0001t0002 a0001c0026t0010 a0001c0001t0002 a0001c0026t0010	a0001c0001t0002g0038 a0001c0026t0010g0044 a0001c0001t0002g0038 a0001c0026t0010g0044	2	181	0.0110	288	c.655 others(307): Show c.655-10058_655-10057insTTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTAC TAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGCACTGTC CTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTA GCACTGTCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744421	C C	CTACTAGC others(281): Show CTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTA GCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01978.hp2 HG00639.hp1 HG01978.hp2	a0001 a0001	a0001c0023 a0001c0024 a0001c0023 a0001c0024	a0001c0023t0002 a0001c0024t0002 a0001c0023t0002 a0001c0024t0002	a0001c0023t0002g0048 a0001c0024t0002g0047 a0001c0023t0002g0048 a0001c0024t0002g0047	2	136	0.0147	288	c.655 others(305): Show c.655-9562_655-9561insAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAG CCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG CTACTAGCAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744421	C C	CTACTAGC others(281): Show CTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTA GCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0010 a0001c0026t0010	a0001c0026t0010g0044 a0001c0026t0010g0044	1	135	0.0074	288	c.655 others(305): Show c.655-9572_655-9571insTTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTA GCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCT GGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAG CCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGC ACAGCCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744482	C C	CACAGCCC others(281): Show CACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTA CTAGCACAGCCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCTG GTTACGAGCACAGCCCTGGTTGCTAGCACAGCCCTGGCTACTAGCACAGC CCTGGTTACTAGCACTATCCTGGCTACTAGTACAGCCCTGGCTACTAGCA CTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACT AGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0006 a0001c0053t0006	a0001c0053t0006g0122 a0001c0053t0006g0122	1	185	0.0054	288	c.655 others(305): Show c.655-9518_655-9517insTTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGCTACTAGTACAGCCCTGGCTACTA GCACTGTCCTGGTTACGAGCACAGCCCTGGTTGCTAGCACAGCCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGTACAGCCCT GGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTG TCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGT ACAGCCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RSAD1_chr17_50473860_50490974	50476222	G G	GCAGCGCG others(281): Show GCAGCGCGGCTGCCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCGC AGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCTGCCCCCTTACCTCCCAG CGCGCCTGCCCCCTTACCTCGCAGCGCGCCTGCCCCCTTACCTCCCAGCG CGCCTGCCCCCTTACCTCGCAGCGCGCCTGCCCCCTTACCTCGCAGCGCG CCTGCCCCCTTACCTCGCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCC TGCCCCCTTACCTCGCAGCGCGCCTGCCCCCTTACCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0003 a0009c0013t0003	a0009c0013t0003g0010 a0009c0013t0003g0010	1	372	0.0027	288	c.-26 others(299): Show c.-2663_-2662insCAGCGCGGCTGCCCCCTTACCTCCCAGCGCGCCT GCCCCCTTACCTCGCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCTGC CCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCTGCCC CCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCTGCCCCC TTACCTCGCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCTGCCCCCTT ACCTCCCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCTGCCCCCTTAC CTCC		RSAD1	ENSG00000136444.10	transcript	ENST00000258955.7	protein_coding					2637		chr17	TogoVar

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