Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NOC4L_chr12_132139457_132157468	132150015	T T	TCACACCA others(350): Show TCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCGGCCGCCTCACTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC ACTCACAC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0134 a0001c0003t0001g0134	1	294	0.0034	357	c.902 others(372): Show c.902-960_902-959insACACCCCTAATCCCCTCGGTGAGTGCGGCC GCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCGGCCGCCTCACTCATACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCACTCACACCACACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOTCH1_chr9_136489433_136551048	136535783	A A	AGGGGAGC others(350): Show AGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGG AGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTG GAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGG GTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0025 a0001c0005t0008g0025	1	324	0.0031	357	c.140 others(374): Show c.140+8240_140+8241insCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCC CGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACTCATTG CCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATT GCCCCTGGGAGGGATCCTGAGTGCTCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRF1_chr7_129606720_129762076	129642756	A A	ACTTTTTT others(350): Show ACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTTTTTTTTTTTTTTT TTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	384	0.0026	357	c.-6- others(374): Show c.-6-14590_-6-14589insCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCTTTTTTTTTTTTTTTTTTTTTTTTT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding	1/10			chr7	TogoVar
NUP93_chr16_56725129_56855286	56739504	C C	CGGCTGGC others(350): Show CGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCCGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCT GACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGC TGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	378	0.0027	357	c.-14 others(374): Show c.-14-8706_-14-8705insTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCCGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGAC TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGA CATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGTGGCTGGCCGGGCGGGGGGGCTGAC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739504	C C	CGGCTGGC others(350): Show CGGCTGGCCGGGCGGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCCGGGGGCTGACACCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGC TGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0110	1	378	0.0027	357	c.-14 others(374): Show c.-14-8711_-14-8710insGCTGACTCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCCGGGGGCTGACACCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGG GCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGTGGCTGGCCGGGCGGGGGGG	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739516	C C	CGGGGGGG others(350): Show CGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCCGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACTCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACATCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTG GCCGGGCG	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0129 a0001c0002t0001g0129	1	378	0.0027	357	c.-14 others(374): Show c.-14-8706_-14-8705insTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCCGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGAC TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC ATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGGGCTGAC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739527	A A	ACTCCCCC others(350): Show ACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCCGGGGGCTG ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGTGGGGGGGCTGACTCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACATCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGG GGGCTGAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG02056.hp2 others(7): Show HG00408.hp1 HG00544.hp1 HG02056.hp2 HG02129.hp2 HG02647.hp1 HG03130.hp1 HG03831.hp1 HG03942.hp1 NA18747.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0052 a0001c0001t0001g0124 a0001c0001t0001g0125 others(7): Show a0001c0001t0001g0052 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0152 a0001c0002t0001g0044 a0001c0002t0001g0058 a0001c0002t0001g0062 a0001c0002t0001g0106 a0001c0002t0001g0168 a0001c0002t0001g0339	10	378	0.0265	357	c.-14 others(374): Show c.-14-8706_-14-8705insTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCCGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGAC TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC ATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGGCTGACC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
OMP_chr11_77097840_77108331	77098066	A A	ACCTCCCG others(350): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGGCTGACCCCCCCCACCTCCTTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCC CCCACCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0000 a0006c0008t0000	a0006c0008t0000g0000 a0006c0008t0000g0000	1	440	0.0023	357	c.-47 others(368): Show c.-4774_-4773insCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCTTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGGCTGACCCCCCCCACCTC	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4773		chr11	TogoVar
OR2L3_chr1_248041836_248068407	248062377	T T	TAAAAATA others(350): Show TAAAAATATCCAGTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0002 a0001c0001t0012g0002	2	398	0.0050	357	c.77 others(366): Show c.774_*775insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTG CGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAATATCCAGTTTTG	OR2L3	ENSG00000198128.4	transcript	ENST00000359959.4	protein_coding	2/2	775	INFO_REALIGN_3_PRIME	chr1	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(350): Show ACTGAATGTACATTATTATTATTATTATTATTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC CGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCTT CCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0234	1	438	0.0023	357	c.-29 others(372): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATA ATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OSBPL9_chr1_51612092_51794219	51711466	A A	ACCCCCCC others(350): Show ACCCCCCCACCTCCCTCCCGGACGGGGAAGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGG GCTGACCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00673.hp2 HG01243.hp1 others(45): Show HG00639.hp1 HG00673.hp2 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02004.hp2 HG02145.hp2 HG02258.hp1 HG02559.hp1 HG02572.hp2 HG02717.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG03130.hp1 HG03139.hp1 HG03453.hp2 HG03486.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp2 NA18747.hp1 NA18941.hp1 NA18948.hp1 NA18948.hp2 NA18959.hp1 NA18963.hp2 NA18965.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18990.hp1 NA18994.hp1 NA19001.hp1 NA19007.hp2 NA19011.hp1 NA19043.hp2 NA19074.hp2 NA19077.hp1 NA19083.hp2 NA19084.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0016 a0001c0001t0018 a0001c0006t0001	a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0040 others(45): Show a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0007g0074 a0001c0001t0007g0123 a0001c0001t0007g0128 a0001c0001t0016g0156 a0001c0001t0018g0064 a0001c0006t0001g0166	48	186	0.2581	357	c.242 others(374): Show c.242-2511_242-2510insAAGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCCCCACCTCCCTCCCGGACGGGG	OSBPL9	ENSG00000117859.19	transcript	ENST00000428468.6	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAK2_chr3_196734857_196837647	196811357	C C	CCCTTCCT others(350): Show CCCTTCCTTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTT CCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTCCCTCCCTCCCCTCC CTTCCCTCCCTCCCCTCCTTCCCTTCCCTCCCTTCCTCCCTCCCTTCCTT CCCTCCCTTCCCTCCCTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCC CTTCCTTCCCTCCCTTCCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTTTC CTCCTTCCCTCCCTCCTTCCTTCCCTTCCTTTCCTTCCTTCCTTCCTTCC TTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTCCTC CTTCCCTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0157 a0001c0001t0055g0157	1	178	0.0056	357	c.773 others(372): Show c.773+710_773+711insTTTCCTTCCCTTCCCTCCCTTCCTTCCCTT CCCTCCCTTCCTTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTCC CTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCTTCCCTTCCCTCCCTTCCT CCCTCCCTTCCTTCCCTCCCTTCCCTCCCTCCCTTCCTTTCCTTCCTTCC TTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCCTTCCCTTCCTTCCCTTCC TTCCCTTCCTTTCCTCCTTCCCTCCCTCCTTCCTTCCCTTCCTTTCCTTC CTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT TCCTTCCCTCCTCCTTCCCTTCCTTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PALD1_chr10_70473767_70573450	70554954	C C	CCCCTCCC others(350): Show CCCCTCCCTTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCCTCCCC TCCCCCTCCTCCCCCTGCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCT CCTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCCTCCCCTC CCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCTCC TCTCCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCT TCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCT CCCCTCCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0098 a0003c0003t0003g0098	1	308	0.0033	357	c.226 others(376): Show c.2262+7511_2262+7512insTCCCTTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCCCTCCCCTCCCCCTCCTCCCCCTGCCCTCCCCCTCCT CCCCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCTCCCCTCC CCCTCCTCCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCC CCTTCCTCCCCTCCCCCTCCTCTCCTTCCTCCCCTCCCCCCTCCTCCCCC CTCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTT CCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCC CTCCCCTCCTCCCCTCCCCTCCCCTCCTCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PARG_chr10_49813279_49947027	49887425	T T	TAAAGATC others(350): Show TAAAGATCTCATGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	292	0.0034	357	c.173 others(376): Show c.1738-2131_1738-2130insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTCATGAGATCTTT	PARG	ENSG00000227345.9	transcript	ENST00000616448.2	protein_coding	7/17			chr10	TogoVar
PCBP3_chr21_45638725_45947450	45927331	T T	TCCTCCCC others(350): Show TCCTCCCCTCCTGCCCTCCTCTCCTTCACTCTGCCTCCTCCCTCCCCTCC TCTCCTCTCCCTCCCTCTCCCCCTCCTCCCTCCTCTCTCCTCTCCCTCCC TCCCTCTCCCCCTACTTCCTCCCCTCCTGCCCTCCTCTCCCTCCCCTCCT GTCCCTCCCTCCCCTCCTGTCCCTCCCTCCCCTCCTGTCCCTCCCCTCCT GCCTTCCTCTTCCTCCCTCTCCCTCCCTCTCCCCCTCCTCCCTCCTCTCC TCTCTCCCCTCCCTCCCTCTCCCCCTCCTCCCTCCTCTCCTCTCCCCTCC CTCACTCTCCCCCTCCTCCCTCCTCTCCTCTCTCCCCTCCCTCACTCTCC CCCTCCTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp2 HG02976.hp1 HG02055.hp2 HG02257.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0019 a0001c0001t0003 a0001c0001t0004 a0001c0001t0019	a0001c0001t0003g0263 a0001c0001t0004g0002 a0001c0001t0019g0224 a0001c0001t0003g0263 a0001c0001t0004g0002 a0001c0001t0019g0224	3	292	0.0103	357	c.718 others(374): Show c.718-2575_718-2574insGCCCTCCTCTCCTTCACTCTGCCTCCTC CCTCCCCTCCTCTCCTCTCCCTCCCTCTCCCCCTCCTCCCTCCTCTCTCC TCTCCCTCCCTCCCTCTCCCCCTACTTCCTCCCCTCCTGCCCTCCTCTCC CTCCCCTCCTGTCCCTCCCTCCCCTCCTGTCCCTCCCTCCCCTCCTGTCC CTCCCCTCCTGCCTTCCTCTTCCTCCCTCTCCCTCCCTCTCCCCCTCCTC CCTCCTCTCCTCTCTCCCCTCCCTCCCTCTCCCCCTCCTCCCTCCTCTCC TCTCCCCTCCCTCACTCTCCCCCTCCTCCCTCCTCTCCTCTCTCCCCTCC CTCACTCTCCCCCTCCTCCCTCCCCTCCT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(350): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCT CCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTAC CCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTC TCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCCCCCCTC CACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCC CTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0332 a0001c0002t0001g0332	1	360	0.0028	357	c.35 others(368): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCC CCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGC ACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCA CCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCAT CCTGCACCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCC CCCTCCACCTCCCCCCTCACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PDXK_chr21_43714129_43767299	43741395	G G	GGGGGGCT others(350): Show GGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCAGGGGG GCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCG CGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTGGCGGGGGGCTCGCGGGG GGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTC GCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGG GGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCG CAGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGG GGGCTCGC	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0350 a0001c0001t0002g0350	1	358	0.0028	357	c.143 others(372): Show c.143-267_143-266insCTCGCGGGGGGCTGGCGGGGGGCTCGCGGG GGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCT CGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTGGCG GGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGC TCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCG GGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGC GGGGGGCTCGCGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43743446	C C	CTGCACCC others(350): Show CTGCACCCACCTCCCTCCCCCCAGCCCCCGAGCACTGTGGGGACACCTCA CTTGCACCCACCTCCCTCCCCCCAGCCCCTGAGCACTGTGGGGACACCTC ACTTGCACCCACCTCCCTCCCCCCAGCCCCCGAGCACTGTGGGGACACCT CGCCTGCACCCACCTCCCTCCCCCCAGCCCCCGAGCACTGTGGGGACACC TCACTTGCACCCACCTCCCTCCCCCCAGCCCCTGAGCACTGTGGGGACAC CTCACTTGCACCCACCTCCCTCCCCCCAGCCCCCGAGCACTGTGGGGACA CCTCGCCTGCACCCACCTCCCTCCCCCCAGCCCCCGAGCACTGTGGGGAC ACCTCACT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0353 a0001c0001t0022g0353	1	358	0.0028	357	c.248 others(372): Show c.248-179_248-178insACTTGCACCCACCTCCCTCCCCCCAGCCCC CGAGCACTGTGGGGACACCTCGCCTGCACCCACCTCCCTCCCCCCAGCCC CCGAGCACTGTGGGGACACCTCACTTGCACCCACCTCCCTCCCCCCAGCC CCTGAGCACTGTGGGGACACCTCACTTGCACCCACCTCCCTCCCCCCAGC CCCCGAGCACTGTGGGGACACCTCGCCTGCACCCACCTCCCTCCCCCCAG CCCCCGAGCACTGTGGGGACACCTCACTTGCACCCACCTCCCTCCCCCCA GCCCCCGAGCACTGTGGGGACACCTCACTTGCACCCACCTCCCTCCCCCC AGCCCCTGAGCACTGTGGGGACACCTC	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PEX7_chr6_136817592_136918934	136856910	A A	ACAGTAAA others(350): Show ACAGTAAAGCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAGTGCAAGCTCCGCCTCC CAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCTACCACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCAGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	330	0.0030	357	c.527 others(374): Show c.527-9702_527-9701insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAGTGCAAGCTCC GCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCAGCCAGTAAAGCTGTTTT	PEX7	ENSG00000112357.14	transcript	ENST00000318471.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
PIP5K1C_chr19_3625183_3705468	3649274	T T	TCCCCTGC others(350): Show TCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACCATGCCCACACG TCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACCATGCCCACACG TCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACCGATGCCCACAC GTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACCGTGCCCACAC GTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACGCGTGCCCACA CGTCCCCTGCCCAGCGCGGGAGTTAACCTGTCACCCGGCACCGTGCCCAC ACGTCCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCAACGCGTGCC CACACGTC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0135 a0004c0009t0001g0135	1	332	0.0030	357	c.112 others(374): Show c.1128-567_1128-566insGACGTGTGGGCACGCGTTGCCGGGTGAC AGTTAACTCCCGCGCTGGGCAGGGGGACGTGTGGGCACGGTGCCGGGTGA CAGGTTAACTCCCGCGCTGGGCAGGGGACGTGTGGGCACGCGTGCCGGGT GACAGTTAACTCCCGCGCTGGGCAGGGGACGTGTGGGCACGGTGCCGGGT GACAGTTAACTCCCGCGCTGGGCAGGGGACGTGTGGGCATCGGTGCCGGG TGACAGTTAACTCCCGCGCTGGGCAGGGGACGTGTGGGCATGGTGCCGGG TGACAGTTAACTCCCGCGCTGGGCAGGGGACGTGTGGGCATGGTGCCGGG TGACAGTTAACTCCCGCGCTGGGCAGGGG	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PKD1L1_chr7_47769614_47953466	47793047	T T	TAAAAAAA others(350): Show TAAAAAAAAAACTATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA CAAAACAA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0011 a0011	a0011c0133 a0011c0133	a0011c0133t0001 a0011c0133t0001	a0011c0133t0001g0184 a0011c0133t0001g0184	1	306	0.0033	357	c.835 others(374): Show c.8356-251_8356-250insTTGTTTTGTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCAATAGTTTTTTTTTT	PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	55/56			chr7	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(350): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGG GAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAG GAAAGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA AGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA AGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGA AGGAAAGA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0091 a0002c0091	a0002c0091t0007 a0002c0091t0007	a0002c0091t0007g0133 a0002c0091t0007g0133	1	134	0.0075	357	c.575 others(378): Show c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCT TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCC CTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCC CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(350): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGA AGGAAAGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01952.hp2 HG00423.hp1 HG01952.hp2	a0034 a0035 a0034 a0035	a0034c0085 a0035c0086 a0034c0085 a0035c0086	a0034c0085t0004 a0035c0086t0001 a0034c0085t0004 a0035c0086t0001	a0034c0085t0004g0096 a0035c0086t0001g0109 a0034c0085t0004g0096 a0035c0086t0001g0109	2	134	0.0149	357	c.575 others(378): Show c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCT TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCC CTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCC CTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(350): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGA AGGAAAGA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02970.hp2 HG01081.hp2 HG02970.hp2	a0001 a0016 a0001 a0016	a0001c0082 a0016c0090 a0001c0082 a0016c0090	a0001c0082t0001 a0016c0090t0001 a0001c0082t0001 a0016c0090t0001	a0001c0082t0001g0105 a0016c0090t0001g0120 a0001c0082t0001g0105 a0016c0090t0001g0120	2	134	0.0149	357	c.575 others(378): Show c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCT TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCC CTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCC CTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(350): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA AGGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGA AGGAAAGA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0001 a0003c0015t0001	a0003c0015t0001g0039 a0003c0015t0001g0039	1	134	0.0075	357	c.575 others(378): Show c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCC CTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCC CTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(350): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA AGGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGA AGGAAAGA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0040 a0004c0006t0003g0040	1	134	0.0075	357	c.575 others(378): Show c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCC CTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCC CTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989903	G G	GGAAGGAA others(350): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGA AGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAG GAAGGAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0004 a0004	a0004c0047 a0004c0047	a0004c0047t0019 a0004c0047t0019	a0004c0047t0019g0015 a0004c0047t0019g0015	1	134	0.0075	357	c.575 others(378): Show c.5751+20405_5751+20406insTTTCCTTCCTTTCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT CCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCT CCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989903	G G	GGAAGGAA others(350): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGA AGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAG GAAGGAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01952.hp1 HG02015.hp2 others(3): Show HG00741.hp2 HG01952.hp1 HG02015.hp2 NA19001.hp2 NA19005.hp1 NA20300.hp2	a0003 a0004 a0023 a0003 a0004 a0023	a0003c0007 a0003c0013 a0003c0015 others(3): Show a0003c0007 a0003c0013 a0003c0015 a0004c0008 a0004c0046 a0023c0044	a0003c0007t0001 a0003c0013t0001 a0003c0015t0001 others(3): Show a0003c0007t0001 a0003c0013t0001 a0003c0015t0001 a0004c0008t0004 a0004c0046t0002 a0023c0044t0001	a0003c0007t0001g0037 a0003c0013t0001g0052 a0003c0015t0001g0041 others(3): Show a0003c0007t0001g0037 a0003c0013t0001g0052 a0003c0015t0001g0041 a0004c0008t0004g0045 a0004c0046t0002g0050 a0023c0044t0001g0044	6	134	0.0448	357	c.575 others(378): Show c.5751+20405_5751+20406insTTTCCTTCCTTTCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT CCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCT CCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989903	G G	GGAAGGAA others(350): Show GGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGAAGGA AGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGAAGGA AGGAAGGAAGGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAGGGAAGGAAAGAAGGAAGGAAGAAAG GAAGGAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0038 a0038	a0038c0062 a0038c0062	a0038c0062t0002 a0038c0062t0002	a0038c0062t0002g0065 a0038c0062t0002g0065	1	134	0.0075	357	c.575 others(378): Show c.5751+20405_5751+20406insTTTCCTTCCTTTCTTCCTTCCTTC TTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTC CTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT TCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCTTCCTTCCTTCCCTCCT CCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989903	G G	GGAAGGAA others(350): Show GGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGAAGGA AGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGA AGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGAAG GAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAG GAAGGAAA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0010	a0002c0004t0010g0101 a0002c0004t0010g0101	1	134	0.0075	357	c.575 others(378): Show c.5751+20405_5751+20406insTTTCCTTCCTTTCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTC CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCT TCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCT CCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989907	G G	GGAAGGAA others(350): Show GGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGAAGGA AGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG GAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAG GAAGGAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0004 a0004	a0004c0043 a0004c0043	a0004c0043t0015 a0004c0043t0015	a0004c0043t0015g0057 a0004c0043t0015g0057	1	134	0.0075	357	c.575 others(378): Show c.5751+20401_5751+20402insTTTCCTTCCTTTCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTC CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT TCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCT CCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKP3_chr11_389209_409908	401384	C C	CCCGCTCA others(350): Show CCCGCTCACACCCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCCGCCC CGCTCACCGCCCGGCCCCCCGCTCACACCCGCCCCGCTCACCCCCTGCCC CGCTCACACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCG CCTCACACCCGGCCCCGCTCACACCCCGCCCGCTCACCCCCGGCCCCGCT CACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCCGCCCCGCTCACC CCGGGCCCGCTCACACACCGCCCCCGCTCACCCCCGGGCCCCGCTCACCC CCGGCCCCCGCTCACACACCCCGCCCCCGCTCACCACCCGGCCCCGCTCA CACCCGGA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0014 a0014	a0014c0029 a0014c0029	a0014c0029t0001 a0014c0029t0001	a0014c0029t0001g0121 a0014c0029t0001g0121	1	216	0.0046	357	c.173 others(374): Show c.1737+681_1737+682insGCTCACACCCCGCCCCGCTCACCCCCGG CCCCGCTCACACCCCGCCCCGCTCACCGCCCGGCCCCCCGCTCACACCCG CCCCGCTCACCCCCTGCCCCGCTCACACACCCGGCCCCGCTCACACCCGC CCCGCTCACACCCGCCCCGCCTCACACCCGGCCCCGCTCACACCCCGCCC GCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTC ACACCCCGCCCCGCTCACCCCGGGCCCGCTCACACACCGCCCCCGCTCAC CCCCGGGCCCCGCTCACCCCCGGCCCCCGCTCACACACCCCGCCCCCGCT CACCACCCGGCCCCGCTCACACCCGGACC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401641	A A	ACCCGGCC others(350): Show ACCCGGCCCCGCTCACACCCCGCCCCGCTCACACCCGGCCCCGCTCACAC CCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGC CCCGCTCACACCCGCCCCGCTCACCCCCCGGCCCGCTCACACCCGCCCCG CTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACA CCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCG CCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCCGGCCC CGCTCACC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0172	1	216	0.0046	357	c.173 others(374): Show c.1737+955_1737+956insCGCCCCGCTCACACCCGGCCCCGCTCAC ACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCC GCCCCGCTCACACCCGCCCCGCTCACCCCCCGGCCCGCTCACACCCGCCC CGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCA CACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACC CGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCCGGC CCCGCTCACCCCCGGCCCCGCTCACACCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(350): Show TTCAGTAAAGTTTTTTGTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGGAC TGAGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCA CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGCGC CCGGCCAC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0143 a0001c0001t0010g0143	1	294	0.0034	357	c.550 others(374): Show c.550-7422_550-7421insGTGGCCGGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAACAAAAAAAAACAAAAAACTTTACTGA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5			chr5	TogoVar
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(350): Show TTCAGTAAAGTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGGAC TGAGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCA CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGCGC CCGGCCAC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	294	0.0034	357	c.550 others(374): Show c.550-7422_550-7421insGTGGCCGGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAACAAAAAACTTTACTGA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5			chr5	TogoVar
PRKCZ_chr1_2045411_2190395	2123317	A A	AGGGTCAC others(350): Show AGGGTCACGGCTGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGT CACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTA GGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTA GTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGC TATAGTTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	286	0.0035	357	c.335 others(376): Show c.335-11939_335-11938insCGGCTGTAGTTAGGGTCATGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA CGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTC ATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAG TTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTG GTAGTTAGGGTCACGGCTATAGTTGGGGTCA	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123606	C C	CGGCTGTA others(350): Show CGGCTGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG GTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCT GTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCAT GGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGA TCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTT GGGGTCAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0131 a0001c0006t0001g0131	1	286	0.0035	357	c.335 others(376): Show c.335-11654_335-11653insCTGTAGTTAGGGTCATGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATG GTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGAT CATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTG GGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGGTCACGGCTATAGTTGGGGTCATGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123921	C C	CGGCTGTA others(350): Show CGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTC ATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GATCATGGCTGTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAG TTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTG GTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCAC GGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGG TCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCAAGGTGGTAGTT AGGATCAT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	286	0.0035	357	c.335 others(376): Show c.335-11338_335-11337insTGTAGTTAGGGTCATGGTGGTAGTTA GGGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCACAGCGAT AGTTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAG TTAGGGTCAAGGTGGTAGTTAGGATCATGGC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124246	G G	GGTAGTTA others(350): Show GGTAGTTAGGATCACGGCTGTAGTTAGGGTCAAGGTGGTAGTTAGGATCA TGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAG GATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAG TTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTG GTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTTAGGGTCAT GGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGG TCATGGCT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02273.hp2 NA18961.hp2 others(2): Show HG02004.hp2 HG02273.hp2 NA18961.hp2 NA19077.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0081 a0001c0001t0001g0244 a0001c0002t0001g0267 others(2): Show a0001c0001t0001g0081 a0001c0001t0001g0244 a0001c0002t0001g0267 a0001c0003t0001g0059 a0001c0003t0001g0275	5	286	0.0175	357	c.335 others(376): Show c.335-11014_335-11013insAGTTAGGATCACGGCTGTAGTTAGGG TCAAGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTT AGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGT TAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACG GCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCAT CATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTA GGGTCATGGTGGTAGTTAGGGTCATGGCTGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKG1_chr10_51069487_52303350	52006431	A A	AAAGAACC others(350): Show AAAGAACCAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCCGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAGG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	64	0.0156	357	c.763 others(376): Show c.763-48044_763-48043insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCCGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAGGAAGAACCAA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CCCTCCCT others(350): Show CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTGTCCCT CCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCT CTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCC TCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCT CCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCC ACCTCCCCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCC TCCCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	227	0.0088	357	c.23 others(368): Show c.2397_*2398insCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCC CCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCT CTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTC CCTCCCTCTCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCC TCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTT CCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTC TCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTTCCC TGTCTCCACCTCCCCTCCCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
PRPSAP2_chr17_18853131_18936287	18888563	A A	AGGCAGAG others(350): Show AGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCGCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCGCGGACGGGGCA GCTGGCCG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG04199.hp2 NA19087.hp2 HG03669.hp1 HG04199.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0288 a0001c0001t0001g0385 a0001c0001t0005g0367 a0001c0001t0001g0288 a0001c0001t0001g0385 a0001c0001t0005g0367	3	392	0.0077	357	c.529 others(374): Show c.529-1127_529-1126insGGGGGGCTGACCCCCCCACCTCCCTCGC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCCACCTCCCTCGCGGACGGGGCAGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGC	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18888563	A A	AGGCAGAG others(350): Show AGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCGCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCGCGGACGGGGCA GCTGGCCG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02055.hp1 HG04228.hp1 others(1): Show HG00408.hp1 HG02055.hp1 HG04228.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0179 a0001c0001t0001g0207 a0001c0001t0001g0262 others(1): Show a0001c0001t0001g0179 a0001c0001t0001g0207 a0001c0001t0001g0262 a0001c0001t0006g0194	4	392	0.0102	357	c.529 others(374): Show c.529-1127_529-1126insGGGGGGCTGACCCCCCCACCTCCCTCGC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCGCGGACGGGGCAGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGC	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18888563	A A	AGGCAGAG others(350): Show AGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCGCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCGCGGACGGGGCA GCTGGCCG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0335	1	392	0.0026	357	c.529 others(374): Show c.529-1159_529-1158insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCGCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCGCGGACGGGGCAGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCTGACCCCCCCC	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18888563	A A	AGGCAGAG others(350): Show AGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCGCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCGCGGACGGGGCA GCTGGCCG	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0348 a0001c0001t0001g0348	1	392	0.0026	357	c.529 others(374): Show c.529-1159_529-1158insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCGCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCC ACCTCCCTCGCGGACGGGGCAGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCTGACCCCCCCC	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18888563	A A	AGGCAGAG others(350): Show AGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGGCTGACCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCGCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCGCGGACGGGGCA GCTGGCCG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	392	0.0026	357	c.529 others(374): Show c.529-1171_529-1170insGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCGCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGG GCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCGCGGACGGGGCAGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCCGGGCAGGGGGG	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18888655	A A	ACCCCCCC others(350): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCGCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCGCGGA CGGGGCAGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGG GGGCTGAC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	392	0.0026	357	c.529 others(374): Show c.529-1127_529-1126insGGGGGGCTGACCCCCCCACCTCCCTCGC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCGCGGACGGGGCAGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGC	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PTP4A3_chr8_141387021_141437454	141429798	A A	GCAGGGTG others(350): Show GCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGG GGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGG GGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCG GGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGC GGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTAAGGACCAGATGG CGGGGACAGGGTGAGCACACAGTCCGGGTCCCCGCTGTAAGGACCAGGTG GCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGT GGCGGGGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02132.hp1 NA18747.hp2 HG00558.hp1 HG02132.hp1 NA18747.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0220 a0001c0001t0001g0230 a0002c0003t0001g0238 a0001c0001t0001g0220 a0001c0001t0001g0230 a0002c0003t0001g0238	3	323	0.0093	357	c.405 others(374): Show c.405-1130_405-1129insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTC CCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCACGT CCCCGCTGTAAGGACCAGATGGCGGGGACAGGGTGAGCACACAGTCCGGG TCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGG GTCCCCGCTGTAAGGACCAGGTGGCGGGG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5			chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141429889	A A	AGGTGGCG others(350): Show AGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGAC CAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGA CCCGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGG ACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTAAG GACCAGATGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAA GGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTA AGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGT AAGGACCC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0036	1	323	0.0031	357	c.405 others(374): Show c.405-1028_405-1027insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCACGTC CCCGCTGTAAGGACCAGATGGCGGGGACAGGGTGAGCGCACAGTCCGGGT CCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGG TCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGG GTCCCCGCTGTAAGGACCCGGTGGCGGGG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141429963	C C	CACAGTCC others(350): Show CACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGC GCACAGCCCACGTCCCCGCTGTAAGGACCAGATGGCGGGGACAGGGTGAG CGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGA GCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTG AGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGT GAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGG TGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGG GTGAGCGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0038 a0001c0001t0017g0038	1	323	0.0031	357	c.405 others(372): Show c.405-960_405-959insTCCGGGTCCCCGCTGTAAGGACCCGGTGGC GGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTAAGGACCAGATGG CGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTG GCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGT GGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGG TGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCG GTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCC GGTGGCGGGGACAGGGTGAGCGTACAG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar

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