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
PPARGC1B_chr5_149725310_149860022	149809297	G G	GATAGATA others(353): Show GATAGATAGATAGATAGATAGATAGATAGATCCATCTCTACCATAGATAG ATAGATAGATAGATAGATAGATCCATCTCTACCATAGATAGATAGATAGA TAGATAGATAGATAGATAGATAGATCCATCTCTACCATAGATAGATAGAT AGATAGATAGATAGATAGATAGATCCATCTCTACCATAGATAGATAGATA GATAGATAGATCCATCTCTACCATAGATAGATAGATAGATAGATAGATCC ATCTCTACCATAGATAGATAGATAGATAGATAGATAGATCCATCTCTACC ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATCGATCGAT CCATCTCTACC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0257 a0001c0010t0001g0257	1	320	0.0031	360	c.79- others(377): Show c.79-11106_79-11105insCCATCTCTACCATAGATAGATAGATAGA TAGATAGATAGATCCATCTCTACCATAGATAGATAGATAGATAGATAGAT AGATAGATAGATAGATCCATCTCTACCATAGATAGATAGATAGATAGATA GATAGATAGATAGATCCATCTCTACCATAGATAGATAGATAGATAGATAG ATCCATCTCTACCATAGATAGATAGATAGATAGATAGATCCATCTCTACC ATAGATAGATAGATAGATAGATAGATAGATCCATCTCTACCATAGATAGA TAGATAGATAGATAGATAGATAGATAGATAGATCGATCGATCCATCTCTA CCATAGATAGATAGATAGATAGATAGATAGAT		PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
PPP6R2_chr22_50338327_50450090	50397939	C C	CTTTTCTC others(353): Show CTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTC ACCAGCCTTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGA TGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTC TCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGC CTTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGG CGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAG GAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCA TCCCTCTGAGT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0309 a0001c0001t0031g0309	1	340	0.0029	360	c.227 others(377): Show c.227+3860_227+3861insTTGTCATCCCTCTGAGCTTTTCTCTGAG GAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTC ATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGG CCTGTCCTCACCAGCCTTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCT GAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCC TCACCAGCCTTGTCATCCCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGG GATGGGGGCAGGGGGGCCTGTCCTCACCAGCC		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
PRAM1_chr19_8485056_8507640	8499451	C C	CGGCTTCT others(353): Show CGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGA GGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCA GGCGGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTT CTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAG TGACCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGC GGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGG GAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGACCT CAGGCGGCGGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03209.hp2 HG03209.hp2	a0049 a0049	a0049c0064 a0049c0064	a0049c0064t0003 a0049c0064t0003	a0049c0064t0003g0062 a0049c0064t0003g0062	1	422	0.0024	360	c.356 others(367): Show c.356_357insCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGCCCC CGCCGCCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAGGTC ACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGACCTCCCCAA GAAGCCCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGCCGC CTGAGGTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGAC CTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGCC CCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAGG TCACTGACCTCCCCAAGAAGCC	p.Pro others(373): Show p.Pro119_Ser120insProProProGluValThrAspLeuProLysLy sProProProProGluValThrAspLeuProLysLysProProProProG luValThrAspLeuProLysLysProProProProGluValThrAspLeu ProLysLysProProProProGluValThrAspLeuProLysLysProPr oProProGluValThrAspLeuProLysLysProProProProGluValT hrAspLeuProLysLysProProProProGluValThrAspLeuProLys LysProProProProGluValThrAspLeuProLysLysProProProPr oGluValThrAspLeuProLysLysPro	PRAM1	ENSG00000133246.12	transcript	ENST00000423345.5	protein_coding	2/10	405/2195	356/2013	119/670			chr19	TogoVar
PRKCZ_chr1_2045411_2190395	2122680	G G	GTCACGGC others(353): Show GTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCGTGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGG TAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTG GTGGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCAT GGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGG TCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTT AGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGT AGTTAGGGTCA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	286	0.0035	360	c.335 others(379): Show c.335-12581_335-12580insCACGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGATCGTGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACG GCTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGT CATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGA TCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGT AGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTTAGGGTCATGG TGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCAT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKN_chr6_161342417_162732766	162010649	T T	TATATTAT others(353): Show TATATTATATATAATATAATATATTATATTATATATAATATAATATATTA TATTATATATTATATATTAATATTATATATTATATAATATATTATATATA TAATATAATATATTATATAATATATTATATATATAATATAATATATTATA TAATATATTATATATATTAATATTATATATTATATAATATATTATATATA TTAATATTATATATTATATAATATATTATATATATTAATATTATATATTA TATAATATATTATATATATTAATATTATATATTATATAATATATTATATA TATTATACATTATATAATATATATTATATAGTATATTATATTATATATTA TATTATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0004 a0003c0006t0003g0004	1	32	0.0313	360	c.619 others(379): Show c.619-37233_619-37232insTATATATAATATAATATATAATATAA TATACTATATAATATATATTATATAATGTATAATATATATAATATATTAT ATAATATATAATATTAATATATATAATATATTATATAATATATAATATTA ATATATATAATATATTATATAATATATAATATTAATATATATAATATATT ATATAATATATAATATTAATATATATAATATATTATATAATATATTATAT TATATATATAATATATTATATAATATATTATATTATATATATAATATATT ATATAATATATAATATTAATATATAATATATAATATAATATATTATATTA TATATAATATAATATATTATATTATATATAATAT		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	162592819	T T	TACTTGGC others(353): Show TACTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG GCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAA ACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATA TATATATATAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0029 a0001c0001t0004g0029	1	32	0.0313	360	c.7+1 others(377): Show c.7+134842_7+134843insGTATATATATATATATATATATATATAT ATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGATGGGGTTTCACCGTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCAAGT		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11						chr6	TogoVar
PRPF31_chr19_54110754_54136713	54133769	C C	CTCTTCCT others(353): Show CTCTTCCTCCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCT TCCCTGTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCC CTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACT CCACCTCCCCTCTCTCTCCCCTCCCTCTCTCCACCTCCCCTCACTCCACC TCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCTCCA CCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTC TCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTC CCCTCCCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	227	0.0044	360	c.23 others(371): Show c.2337_*2338insTCTTCCTCCCCTCTCCACCTCCCCTCTCTCTCCC TCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTGTCCCTCCC TCTCTCCACCTCCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCT CCACCTCCCCTCACTCCACCTCCCCTCTCTCTCCCCTCCCTCTCTCCACC TCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCT CTCTCTTCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCT CTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTT CCCTGTCTCCACCTCCCCTCCCTCTG		PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding					2057		chr19	TogoVar
PTDSS2_chr11_445279_496399	459074	A A	AGGACCTG others(353): Show AGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGATACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0066	1	346	0.0029	360	c.183 others(377): Show c.183-1092_183-1091insACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGATACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGG		PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	459097	G G	GACACTCC others(353): Show GACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGATACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	346	0.0029	360	c.183 others(375): Show c.183-931_183-930insTACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGA		PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
PTMA_chr2_231703525_231718551	231715912	C C	CCTCACTC others(353): Show CCTCACTCACTGGACTCCACACATCTTCACTGGACTCCACACATCCTCAG TGGACTCCACACATTCTCACTGGACTCTACAGACCCTCACTGGACTCCAC GCTCCCTCACTGGACTCCACACTCCTTCACTGGACCCCGTGCTCCCTCAC TGGACTCCACACACCCTCACTGGACTCCACACACCCTCACTGGACTCCAC GCACCCTCACTGGACTCCATGCACCCTCACTCACCGGACTCCACGCACCC TCACTGGACTCCACGCACCCTCACTCACTGGACTCCATACTGCCTCAGCA GACTCCACACTCTCTCACTGGACTCCCTGCTCCCTCACTCACTGGACTCC ACGCACCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG02723.hp2 others(6): Show HG02257.hp2 HG02451.hp2 HG02723.hp2 HG02818.hp2 HG02895.hp2 HG03453.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0021 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0034	9	392	0.0230	360	c.30 others(371): Show c.3061_*3062insCTCACTCACTGGACTCCACACATCTTCACTGGAC TCCACACATCCTCAGTGGACTCCACACATTCTCACTGGACTCTACAGACC CTCACTGGACTCCACGCTCCCTCACTGGACTCCACACTCCTTCACTGGAC CCCGTGCTCCCTCACTGGACTCCACACACCCTCACTGGACTCCACACACC CTCACTGGACTCCACGCACCCTCACTGGACTCCATGCACCCTCACTCACC GGACTCCACGCACCCTCACTGGACTCCACGCACCCTCACTCACTGGACTC CATACTGCCTCAGCAGACTCCACACTCTCTCACTGGACTCCCTGCTCCCT CACTCACTGGACTCCACGCACCCTCA		PTMA	ENSG00000187514.17	transcript	ENST00000409115.8	protein_coding					2362		chr2	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(353): Show GTGATGATGGTGATGGTGATGATGGTGATGGTGGTGATGATGGTGATGGT GATGGTGATGATGGTGACGGTGGTGACAATGGTGATGGTGATGGTGGTGG TGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATG GTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGT GATGGTGGTGATGATGGTGATGGTGATGGTGATGATGGTGACGGTGATGG TGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATG GTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGG GGTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0109 a0002c0003t0001g0109	1	374	0.0027	360	c.-46 others(371): Show c.-4663_-4662insTGATGATGGTGATGGTGATGATGGTGATGGTGGT GATGATGGTGATGGTGATGGTGATGATGGTGACGGTGGTGACAATGGTGA TGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATG ATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGT GATGGTGATGATGGTGATGGTGGTGATGATGGTGATGGTGATGGTGATGA TGGTGACGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTG GTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGAT GGTAGTGGTGATGGGGGTGGTGGTAA		PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding					4635		chr10	TogoVar
RAB7B_chr1_205971740_206008395	205985758	C C	CACCAGGC others(353): Show CACCAGGCCCACCATCCCCACCAGGCCCACCATCCCCACCATCCCCACCA GGCCCACCATCCCCATCAGGCCCACCATCCCCACCAGGCCCACCATCCCC ACCATCCCCACCAGGCCCACCATCCCCACCAGGCCCACCATCCCCACCAG GCCCACCATCCCCACCAGGCCCACCATCCCCACCAGGCCCACCATCCCCA CCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCATCCCCACCATC CCCACCAGGCCCACCATCCCCATCAGGCTCACCAGGCCCACCATCCCCAC CAGGCCCACCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCC CCACCAGGCCT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0295 a0001c0001t0002g0295	1	330	0.0030	360	c.397 others(373): Show c.397-94_397-93insAGGCCTGGTGGGGATGGTGGGCCTGGTGGGGA TGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTG AGCCTGATGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCT GGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGG GGATGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGCCTG GTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGG GATGGTGGGCCTGATGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGG TGGGCCTGGTGGGGATGGTGGGCCTGGT		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAD51C_chr17_58687602_58740611	58726417	T T	TATATGTA others(353): Show TATATGTATATATGTGTATACGTATAGATGTATATACATATGTATATATG TGTATACGTATAGATGTATATACATATGTATATATGTGTATACGTATAGA TGTATATACATATGTATATATGTGTATACGTATAGATGTATATACATATG TATATATGTGTATACGTATAGATGTATATACATATGTATATATGTGTATA CGTATAGATGTATATACATATGTATATATGTGTATACGTATAGATGTATA TACATATGTATATATGTGTATACGTATAGATGTATATACATATGTATATA TGTGTATACGTATAGATGTATATACATATGTATATATGTGTATACGTATA GATGTATATAC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	330	0.0030	360	c.965 others(377): Show c.965+2444_965+2445insCGTATAGATGTATATACATATGTATATA TGTGTATACGTATAGATGTATATACATATGTATATATGTGTATACGTATA GATGTATATACATATGTATATATGTGTATACGTATAGATGTATATACATA TGTATATATGTGTATACGTATAGATGTATATACATATGTATATATGTGTA TACGTATAGATGTATATACATATGTATATATGTGTATACGTATAGATGTA TATACATATGTATATATGTGTATACGTATAGATGTATATACATATGTATA TATGTGTATACGTATAGATGTATATACATATGTATATATGTGTATACGTA TAGATGTATATACATATGTATATATGTGTATA		RAD51C	ENSG00000108384.16	transcript	ENST00000337432.9	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
RASA3_chr13_113972783_114137623	114080898	T T	TAGTGCCC others(353): Show TAGTGCCCCTCGGCAGAGGGCCATCCACCTAGAACACCAATAGTGCCCCT CGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCCTCGGCAGAGGG CCGTCCACCTAGAACACCAAGAGTGCCCCACGGCAGAAGGCCGTCCACCT AGAACACCAAGAGTGTCCCACGGCAGAGGGCCGTCCACATAGAACACCAA TAGTGCTGCGTGGCAGAGGGCCGTCCACATAGAACACCAATAGTGCCGTG TGGCAGAGGGCCGTCCACCCAAAACACCAAGAGTGCCCCTCGGCAGAGGG CCGTCCACCTAGAACACCAATAGTGCCCCTCGGCAGAGGGCCGTCCACCT AGAACACCAAG	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	67	0.0149	360	c.56- others(375): Show c.56-7062_56-7061insCTTGGTGTTCTAGGTGGACGGCCCTCTGCC GAGGGGCACTATTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACT CTTGGTGTTTTGGGTGGACGGCCCTCTGCCACACGGCACTATTGGTGTTC TATGTGGACGGCCCTCTGCCACGCAGCACTATTGGTGTTCTATGTGGACG GCCCTCTGCCGTGGGACACTCTTGGTGTTCTAGGTGGACGGCCTTCTGCC GTGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACT CTTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACTATTGGTGTTC TAGGTGGATGGCCCTCTGCCGAGGGGCACT		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114080978	G G	GAGTGCCC others(353): Show GAGTGCCCCTCGGCAGAGGGCCATCCACCCAAAACACCAATAGTGCCCCT CGGCAGAGGGCCGTCCACCTAGAACACCAATAGTGCCCCTCGGCAGAGGG CCGTCCACCTAGAACACCAAGAGTGCCCCTCAGCAGAGGGCCGTCCACCC AAAACACCAATAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAA TAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCCT CAGCAGAGGGCCGTCCACCCAAAACACCAATAGTGCCCCTCGGCAGAGGG CCGTCCACCTAGAACACCAATAGTGCCCCTCGGCAGAGGGCCGTCCACCT AGAACACCAAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	67	0.0149	360	c.56- others(375): Show c.56-7142_56-7141insATTGGTGTTCTAGGTGGACGGCCCTCTGCC GAGGGGCACTATTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACT ATTGGTGTTTTGGGTGGACGGCCCTCTGCTGAGGGGCACTCTTGGTGTTC TAGGTGGACGGCCCTCTGCCGAGGGGCACTATTGGTGTTCTAGGTGGACG GCCCTCTGCCGAGGGGCACTATTGGTGTTTTGGGTGGACGGCCCTCTGCT GAGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACT ATTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACTATTGGTGTTT TGGGTGGATGGCCCTCTGCCGAGGGGCACT		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114081086	C C	CCAAAACA others(353): Show CCAAAACACCAATAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACC AAGAGTGCCCCACGGCAGAGGGCCGTCCACCTAGAACACCAATAGTGCCC CTCGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCCACGGCAGAG GGCCGTCCACCTAGAACACCAATAGTGCCCCTCGGCAGAGGGCCGTCCAC CTAGAACACCAAGAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACC AATAGTGCCCCTCGGCAGAGGGCCGTCCACCCAAAACACCAAGAGTGCCC CTCGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCCTCGGCAGAG GGCCATCCACG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0022 a0001c0003t0003g0022	1	67	0.0149	360	c.56- others(375): Show c.56-7250_56-7249insCGTGGATGGCCCTCTGCCGAGGGGCACTCT TGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACTCTTGGTGTTTTG GGTGGACGGCCCTCTGCCGAGGGGCACTATTGGTGTTCTAGGTGGACGGC CCTCTGCCGAGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCCGA GGGGCACTATTGGTGTTCTAGGTGGACGGCCCTCTGCCGTGGGGCACTCT TGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACTATTGGTGTTCTA GGTGGACGGCCCTCTGCCGTGGGGCACTCTTGGTGTTCTAGGTGGACGGC CCTCTGCCGAGGGGCACTATTGGTGTTTTG		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RECQL4_chr8_144506288_144522833	144513791	C C	CGTGGGGA others(353): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02165.hp2 NA19010.hp1 others(3): Show HG01358.hp1 HG02165.hp2 NA19010.hp1 NA19065.hp2 NA19085.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0029 a0001c0001 a0001c0004 a0001c0029	a0001c0001t0001 a0001c0004t0001 a0001c0029t0001 a0001c0001t0001 a0001c0004t0001 a0001c0029t0001	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0013 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0004t0001g0173 a0001c0029t0001g0075	6	412	0.0146	360	c.205 others(375): Show c.2059-80_2059-79insCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCAC		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(353): Show TGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG AGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGG CGGTGGGGAGA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0186 a0002c0002t0001g0186	1	412	0.0024	360	c.205 others(375): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC TCTCCCCACCGCCCACGCCGACCCCTCCTCTCTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCTC ACTCCCCACCGCCCAGGCCGACCCCTCCTC		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(353): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCAGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAG TGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGGTCGGCGTGGG CGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0018 a0018	a0018c0043 a0018c0043	a0018c0043t0001 a0018c0043t0001	a0018c0043t0001g0131 a0018c0043t0001g0131	1	412	0.0024	360	c.205 others(375): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTACTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACCGCCCAGGCCG ACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCTCACTCCCCACT GCCCAGGCCGACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC ACTCCCCACTGCCCACGCCGACCCCTCCTC		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(353): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG AGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGG CGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG03654.hp1 HG01257.hp1 HG01258.hp1 HG03654.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0007 a0002c0002 a0005c0007	a0002c0002t0001 a0005c0007t0001 a0002c0002t0001 a0005c0007t0001	a0002c0002t0001g0179 a0002c0002t0001g0180 a0005c0007t0001g0219 a0002c0002t0001g0179 a0002c0002t0001g0180 a0005c0007t0001g0219	3	412	0.0073	360	c.205 others(375): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC TCTCCCCACCGCCCACGCCGACCCCTCCTCTCTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCTCACTCCCCACC GCCCAGGCCGACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC ACTCCCCACTGCCCACGCCGACCCCTCCTC		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(353): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01981.hp2 HG02056.hp2 others(10): Show HG01943.hp2 HG01981.hp2 HG02056.hp2 NA18944.hp2 NA18960.hp1 NA18962.hp1 NA18967.hp1 NA18975.hp1 NA18995.hp2 NA18998.hp1 NA19003.hp1 NA19011.hp1 NA19088.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0002c0005 a0005c0007 a0002c0002 a0002c0005 a0005c0007	a0002c0002t0001 a0002c0005t0001 a0005c0007t0001 a0002c0002t0001 a0002c0005t0001 a0005c0007t0001	a0002c0002t0001g0024 a0002c0002t0001g0040 a0002c0002t0001g0208 others(4): Show a0002c0002t0001g0024 a0002c0002t0001g0040 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0005t0001g0021 a0002c0005t0001g0036 a0005c0007t0001g0134	13	412	0.0316	360	c.205 others(375): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCTCACTCCCCACC GCCCAGGCCGACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC ACTCCCCACTGCCCACGCCGACCCCTCCTC		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513834	A A	GAGGGGTC others(353): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00597.hp2 others(21): Show HG00099.hp1 HG00280.hp1 HG00597.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp2 HG01109.hp2 HG01167.hp1 HG01346.hp1 HG01361.hp1 HG01496.hp1 HG01516.hp2 HG01934.hp2 HG01975.hp1 HG02027.hp1 HG04199.hp2 HG06807.hp1 NA18612.hp1 NA18949.hp2 NA18979.hp2 NA18999.hp1 NA19056.hp2 NA19065.hp1 NA20752.hp2	a0001 a0035 a0001 a0035	a0001c0001 a0001c0004 a0001c0018 others(1): Show a0001c0001 a0001c0004 a0001c0018 a0035c0031	a0001c0001t0001 a0001c0004t0001 a0001c0018t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0001c0018t0001 a0035c0031t0001	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0013 others(8): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0123 a0001c0004t0001g0168 a0001c0018t0001g0031 a0001c0018t0001g0103 a0035c0031t0001g0105	24	412	0.0583	360	c.205 others(372): Show c.2058+94delTinsACTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTC		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
RERE_chr1_8347404_8822640	8441930	T T	TCAATACA others(353): Show TCAATACACACACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGA CTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGCCA CCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0196 a0001c0001t0037g0196	1	204	0.0049	360	c.120 others(381): Show c.1204-19124_1204-19123insGCCGGGCGCGGTGGCTCACGCCTG TAGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAGTGTGTGTATTG		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	11/22						chr1	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(353): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	276	0.0036	360	c.132 others(377): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT		RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24						chr4	TogoVar
RFTN1_chr3_16310845_16518699	16404258	T T	TATTATAT others(353): Show TATTATATATTTTATATAAAATATATAATATATATTTTATATAAAATATA TAATATATATTTTATATATAATATATAATATATATTTTATATATAATATA TAATATATATTTTATATATAATATATTTTATATATATATTATATATTTTA TATATATAATATATAAAATATATATAATATATAAAATATAAAATATATAA TATATATATTATATAATATATATAATATATTATATATAATATATATAATA TATAATATATATAATATATATAATATATATACAATATATAATATATATAA TATATAATATATATATACAATATATAATATATATAATATATAATATATAT AATATATATAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	268	0.0037	360	c.441 others(377): Show c.441+5116_441+5117insGTATATATATTATATATATTATATATTA TATATATTATATATTGTATATATATATTATATATTATATATATTATATAT TGTATATATATTATATATATTATATATATTATATATTATATATATTATAT ATAATATATTATATATATTATATAATATATATATTATATATTTTATATTT TATATATTATATATATTTTATATATTATATATATAAAATATATAATATAT ATATAAAATATATTATATATAAAATATATATTATATATTATATATAAAAT ATATATTATATATTATATATAAAATATATATTATATATTTTATATAAAAT ATATATTATATATTTTATATAAAATATATAAT		RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9						chr3	TogoVar
RGPD3_chr2_106398406_106473413	106467427	C C	CGCCGCAG others(353): Show CGCCGCAGGGCCAGGTCGAGGCCGGCGCCTCAACAGAGCGCGCCAGGGAG CAGCGCCGGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGCCGCAGGG CCAGGTCGAGGCCGCCGCCTCCACAGAGCGCGCCAGGGAGCAGCGCTCGT CGGGAGCCATGACGCCTGAGCCATCGAGGCCGCCGCCGGGCCGGGTCGAG GCCGCCGCCTCAACAGAGCGCGCCAGGGAGCAGCGCCCGTCGGGAGCCAT GACGCCTGAGCCATCGAGGCCGCCGCCGGGCCGGGTCGAGGCCGCCGCCT CAACAGAGCATGCCAGGGAGCAGCGCCCGTCGGGAGCCATGATGCCTGAG CCATCAAGGCA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	382	0.0026	360	c.72+ others(373): Show c.72+789_72+790insTGCCTTGATGGCTCAGGCATCATGGCTCCCGA CGGGCGCTGCTCCCTGGCATGCTCTGTTGAGGCGGCGGCCTCGACCCGGC CCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGC TCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCGGCGGCGG CCTCGATGGCTCAGGCGTCATGGCTCCCGACGAGCGCTGCTCCCTGGCGC GCTCTGTGGAGGCGGCGGCCTCGACCTGGCCCTGCGGCGGCCTCGATGGC TCAGGCGTCATGGCTCCCGACCGGCGCTGCTCCCTGGCGCGCTCTGTTGA GGCGCCGGCCTCGACCTGGCCCTGCGGC		RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	1/22						chr2	TogoVar
RGPD3_chr2_106398406_106473413	106467427	C C	CGCCGCAG others(353): Show CGCCGCAGGGCCAGGTCGAGGCCGGCGCCTCAACAGAGCGCGCCAGGGAG CAGCGCCGGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGCCGCAGGG CCAGGTCGAGGCCGCCGCCTCCACAGAGCGCGCCAGGGAGCAGCGCTCGT CGGGAGCCATGACGCCTGAGCCATCGAGGCCGCCGCCGGGCCGGGTCGAG GCCGCCGCCTCAACAGAGCGCGCCAGGGAGCAGCGCCCGTCGGGAGCCAT GACGCCTGAGCCATCGAGGCCGCCGCCGGGCCGGGTCGAGGCCGCCGCCT CAACAGAGCATGCCAGGGAGCAGCGCCCGTCGGGAGCCATGATGCCTGAG CCATCGAGGCA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	382	0.0026	360	c.72+ others(373): Show c.72+789_72+790insTGCCTCGATGGCTCAGGCATCATGGCTCCCGA CGGGCGCTGCTCCCTGGCATGCTCTGTTGAGGCGGCGGCCTCGACCCGGC CCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGC TCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCGGCGGCGG CCTCGATGGCTCAGGCGTCATGGCTCCCGACGAGCGCTGCTCCCTGGCGC GCTCTGTGGAGGCGGCGGCCTCGACCTGGCCCTGCGGCGGCCTCGATGGC TCAGGCGTCATGGCTCCCGACCGGCGCTGCTCCCTGGCGCGCTCTGTTGA GGCGCCGGCCTCGACCTGGCCCTGCGGC		RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	1/22						chr2	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTAGATAG others(353): Show CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATAGATATATAGATAC ATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAG ATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGAT ATATAGATACATCTAGATAGATATATAGATACATCTATATAGATATATAG ATACATCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	426	0.0024	360	c.22 others(371): Show c.2236_*2237insTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA GATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGA TAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATA TATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGA TACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATC TATATAGATATATAGATACATCTATA		RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding					2042		chr13	TogoVar
RNF213_chr17_80255852_80403794	80315222	G G	GTGGTGGA others(353): Show GTGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGTGATGGTGGAGGTACT AGAGGTGATGGCGGTCGTGGAGGTGATGGTGGAGGTAATGGAGGTGGTGG TGGTCGTGGTGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTAATGGAGGTGATGGTGGTGGTACTGGAGGTGAT GGTGGTGGTGAAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGT AGGTGATGGTGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAATG GAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTACTGGAGGTGATGGT GGTAAAGGTGA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18944.hp2 NA18954.hp2 others(1): Show NA18942.hp1 NA18944.hp2 NA18954.hp2 NA19086.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0003t0002 a0001c0004t0023 a0001c0003t0001 a0001c0003t0002 a0001c0004t0023	a0001c0003t0001g0108 a0001c0003t0002g0107 a0001c0003t0002g0109 others(1): Show a0001c0003t0001g0108 a0001c0003t0002g0107 a0001c0003t0002g0109 a0001c0004t0023g0106	4	292	0.0137	360	c.281 others(379): Show c.2812-1936_2812-1935insTGGTGATGGTGGAGGTACTAGAGGTG ATGGCGGTCGTGGAGGTGATGGTGGAGGTAATGGAGGTGGTGGTGGTCGT GGTGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTAATGGAGGTGATGGTGGTGGTACTGGAGGTGATGGTGGTG GTGAAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGTAGGTGAT GGTGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAATGGAGGTGA TGGTGGTGGTGAAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTAAAG GTGATGGTGGAGGTACTGGAGGTGATGGTGGTGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF223_chr1_1065967_1079306	1076609	G G	GCCGGGAG others(353): Show GCCGGGAGGCTGAGTCTACGGGGACTCCGTGCGGGGAGGCTGAGTCTACG GGGACTCCGTGAGGGGTGGCTGAGTCTATGGGGACTCCGTGCGGGGAGGC TGAGGCTATGGGGACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCCGT GCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATG GGGACTCCATGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGC TGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGT GGGGGGAGGCTGAGGCTATGGGGACTCCGTCGGGGGAGGCTGAGGCTATG GGGACTCCGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	360	c.-26 others(371): Show c.-2604_-2603insGACGGAGTCCCCATAGCCTCAGCCTCCCCCGACG GAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCC TCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCAT AGCCTCAGCCTCCCCCCATGGAGTCCCCATAGACTCAGCCTCCCGGCACG GAGTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCC ACCCCGCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCAT AGACTCAGCCACCCCTCACGGAGTCCCCGTAGACTCAGCCTCCCCGCACG GAGTCCCCGTAGACTCAGCCTCCCGG		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2304		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076609	G G	GCCGGGAG others(353): Show GCCGGGAGGCTGAGTCTACGGGGACTCCGTGCGGGGAGGCTGAGTCTATG GGGACTCCGTGAGGGGTGGCTGAGTCTATGGGGACTCCGTGCGGGGAGGC TGAGGCTATGGGGACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCCGT GCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATG GGGACTCCATGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGC TGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGT GGGGGGAGGCTGAGGCTATGGGGACTCCGTCGGGGGAGGCTGAGGCTATG GGGACTCCGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00597.hp1 others(10): Show HG00408.hp1 HG00544.hp1 HG00597.hp1 HG00621.hp2 HG01192.hp2 HG01433.hp1 HG02015.hp1 NA18950.hp1 NA18950.hp2 NA18959.hp2 NA19012.hp1 NA19064.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	13	324	0.0401	360	c.-26 others(371): Show c.-2604_-2603insGACGGAGTCCCCATAGCCTCAGCCTCCCCCGACG GAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCC TCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCAT AGCCTCAGCCTCCCCCCATGGAGTCCCCATAGACTCAGCCTCCCGGCACG GAGTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCC ACCCCGCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCAT AGACTCAGCCACCCCTCACGGAGTCCCCATAGACTCAGCCTCCCCGCACG GAGTCCCCGTAGACTCAGCCTCCCGG		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2304		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076609	G G	GCCGGGAG others(353): Show GCCGGGAGGCTGAGTCTACGGGGACTCCGTGCGGGGTGGCTGAGTCTATG GGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTGGC TGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGT GCCGGGAGGCTGAGTCTATGGGGACTCCATGGGGGGAGGCTGAGGCTATG GGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGC TGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGT CGGGGGAGGCTGAGGCTATGGGGACTCCGTCGGGGGAGGCTGAGGCTATG GGGACTCCGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01261.hp1 HG01192.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	324	0.0062	360	c.-26 others(371): Show c.-2604_-2603insGACGGAGTCCCCATAGCCTCAGCCTCCCCCGACG GAGTCCCCATAGCCTCAGCCTCCCCCGACGGAGTCCCCATAGCCTCAGCC TCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCAT AGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCATG GAGTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCC TCCCGGCACGGAGTCCCCATAGACTCAGCCACCCCGCACGGAGTCCCCAT AGCCTCAGCCTCCCCGCACGGAGTCCCCATAGACTCAGCCACCCCGCACG GAGTCCCCGTAGACTCAGCCTCCCGG		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2304		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076609	G G	GCCGGGAG others(353): Show GCCGGGAGGCTGAGTCTACGGGGACTCCGTGCGGGGTGGCTGAGTCTATG GGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTGGC TGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGT GCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATG GGGACTCCATGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGC TGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGT GGGGGGAGGCTGAGGCTATGGGGACTCCGTCGGGGGAGGCTGAGGCTATG GGGACTCCGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	360	c.-26 others(371): Show c.-2604_-2603insGACGGAGTCCCCATAGCCTCAGCCTCCCCCGACG GAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCC TCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCAT AGCCTCAGCCTCCCCCCATGGAGTCCCCATAGACTCAGCCTCCCGGCACG GAGTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCC TCCCGGCACGGAGTCCCCATAGACTCAGCCACCCCGCACGGAGTCCCCAT AGCCTCAGCCTCCCCGCACGGAGTCCCCATAGACTCAGCCACCCCGCACG GAGTCCCCGTAGACTCAGCCTCCCGG		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2304		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076731	G G	GGGGTGGC others(353): Show GGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGC CGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGC CGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGG GACTCCGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	360	c.-27 others(371): Show c.-2726_-2725insGGCACGGAGTCCCCATAGCCTCAGCCTCCCGGCA CGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAG CCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCC ATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCA CGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAG CCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCC ATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCA CGGAGTCCCCATAGCCTCAGCCACCC		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2426		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076821	G G	GGGGAGGC others(353): Show GGGGAGGCTGAGGCTACGGGGACTCCGTGCCGGGAGGCTGAGGCTACGGG GACTCCGTGCCGGGAGGCTGAGGCTACGGGGACTCCGTGCGGGGAGGCTG AGTCTACGGGGACTCCGTGAGGGGTGGCTGAGTCTATGGGGACTCCGTGC GGGGAGGCTGAGTCTATGGGGACTCCGTGCGGGGTGGCTGAGGCTATGGG GACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTG AGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGC CGGGAGGCTGAGGCTACGGGGACTCCGTGCCGGGAGGCTGAGGCTACGGG GACTCCGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0004	1	324	0.0031	360	c.-28 others(371): Show c.-2816_-2815insGGCACGGAGTCCCCGTAGCCTCAGCCTCCCGGCA CGGAGTCCCCGTAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAG CCTCCCGGCACGGAGTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCC ATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCACCCCGCA CGGAGTCCCCATAGACTCAGCCTCCCCGCACGGAGTCCCCATAGACTCAG CCACCCCTCACGGAGTCCCCGTAGACTCAGCCTCCCCGCACGGAGTCCCC GTAGCCTCAGCCTCCCGGCACGGAGTCCCCGTAGCCTCAGCCTCCCGGCA CGGAGTCCCCGTAGCCTCAGCCTCCC		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2516		chr1	TogoVar
RPA3_chr7_7631518_7723607	7679412	T T	TTATATAT others(353): Show TTATATATTTAGTTTATAGATACATGTTTATATATTTAGTTTATAGATAA ATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTA GTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAAT ATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAAT TTATAGATAAA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	308	0.0033	360	c.-75 others(379): Show c.-758+6417_-758+6418insTTTATCTATAAATTAAATATATAAAT ATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATT AAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATATT TATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATA TAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATCTAT AAACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAATAT ATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAA ATATATAAACATGTATCTATAAACTAAATATATA		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
RPH3AL_chr17_207389_357807	221486	C C	CACATCAG others(353): Show CACATCAGCTCTGAGGCCTCCACTCGGTGAGACAATAGACCCAAGCACAT CAGCTCTCAGGCCTCCACTCGGTGAGACAATAGACCCAAGCACATCAGCT CTCAGGCCTCCACTCACTGAGACAATAGACCCAAGAACAACAGCTCTGAG GCCTCCACTCACTGAGACAATAGGCCCAAGCACAACAGCTCTGAGGCCTC CACTCACTGAGACAACAGACCCAAGAAAAACAGCTCTGAGGCCTCCACTC ACTGAGACAATAGGCCCAAGCACAACAGCTCTGAGGCCTCCACTCACTGA GACAACAGACCCAAGAACAACAGCTCTGAGGCCTCCACTCACTGAGACAA TAGGCCCAAGA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02148.hp2 HG03831.hp1 HG01361.hp2 HG02148.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0030 a0001c0001t0013g0055 a0001c0001t0013g0107 a0001c0001t0001g0030 a0001c0001t0013g0055 a0001c0001t0013g0107	3	133	0.0226	360	c.614 others(377): Show c.614-1751_614-1750insTCTTGGGCCTATTGTCTCAGTGAGTGGA GGCCTCAGAGCTGTTGTTCTTGGGTCTGTTGTCTCAGTGAGTGGAGGCCT CAGAGCTGTTGTGCTTGGGCCTATTGTCTCAGTGAGTGGAGGCCTCAGAG CTGTTTTTCTTGGGTCTGTTGTCTCAGTGAGTGGAGGCCTCAGAGCTGTT GTGCTTGGGCCTATTGTCTCAGTGAGTGGAGGCCTCAGAGCTGTTGTTCT TGGGTCTATTGTCTCAGTGAGTGGAGGCCTGAGAGCTGATGTGCTTGGGT CTATTGTCTCACCGAGTGGAGGCCTGAGAGCTGATGTGCTTGGGTCTATT GTCTCACCGAGTGGAGGCCTCAGAGCTGATGT		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	340442	C C	CCGGGCTC others(353): Show CCGGGCTCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCT CCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACATCCACAC TCACTGCCCCGGGCTCAGGCCTCCCCACATCCACACTCACTGCCCCGGGC TCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCAC ATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACATCCACACTCACTG CCCCCCACCCAGGCCTCCCCACGTCCACACTCACTGCCCTGGGCCCAGGC CTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACATCCAC ACTCACTGCCT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18995.hp2 NA19004.hp1 others(1): Show NA18951.hp2 NA18995.hp2 NA19004.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0015t0007 a0001c0001t0001 a0001c0001t0002 a0001c0015t0007	a0001c0001t0001g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 others(1): Show a0001c0001t0001g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0015t0007g0026	4	133	0.0301	360	c.-21 others(379): Show c.-212-6509_-212-6508insAGGCAGTGAGTGTGGATGTGGGGAGG CCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGCCCAGGGC AGTGAGTGTGGACGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATG TGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGG TGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGAGCCCGGGGCAGTGAG TGTGGATGTGGGGAGGCCTGAGCCCGGGGCAGTGAGTGTGGATGTGGGGA GGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGG GCAGTGAGTGTGGATGTGGGGAGGCCTGAGCCCG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	340442	C C	CCGGGCTC others(353): Show CCGGGCTCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCT CCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACATCCACAC TCACTGCCCCGGGCTCAGGCCTCCCCACATCCACACTCACTGCCCCGGGC TCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCAC ATCCACACTCACTGCCCCCCTCCCAGGCCTCCCCACATCCACACTCACTG CCCCCCACCCAGGCCTCCCCACGTCCACACTCACTGCCCTGGGCCCAGGC CTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACATCCAC ACTCACTGCCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG01243.hp2 others(32): Show HG00408.hp1 HG00544.hp2 HG01243.hp2 HG01515.hp2 HG01978.hp2 HG02027.hp1 HG02071.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02698.hp2 HG02738.hp1 HG02886.hp2 HG03540.hp1 HG04184.hp1 HG04184.hp2 NA18612.hp1 NA18906.hp2 NA18940.hp2 NA18947.hp2 NA18959.hp2 NA18993.hp2 NA18995.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19056.hp2 NA19079.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0002c0005 a0006c0009 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0022 a0001c0001t0034 a0001c0001t0035 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0004t0001 a0001c0004t0004 a0001c0004t0026 a0001c0006t0004 a0002c0005t0005 a0006c0009t0001 a0008c0013t0003	a0001c0001t0001g0024 a0001c0001t0001g0110 a0001c0001t0001g0133 others(32): Show a0001c0001t0001g0024 a0001c0001t0001g0110 a0001c0001t0001g0133 a0001c0001t0002g0052 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0003g0034 a0001c0001t0003g0051 a0001c0001t0004g0021 a0001c0001t0004g0039 a0001c0001t0006g0072 a0001c0001t0008g0042 a0001c0001t0011g0056 a0001c0001t0012g0053 a0001c0001t0013g0055 a0001c0001t0014g0023 a0001c0001t0014g0025 a0001c0001t0014g0106 a0001c0001t0015g0036 a0001c0001t0017g0070 a0001c0001t0022g0071 a0001c0001t0034g0018 a0001c0001t0035g0074 a0001c0002t0001g0057 a0001c0002t0001g0073 a0001c0002t0002g0038 a0001c0002t0003g0033 a0001c0002t0007g0112 a0001c0004t0001g0050 a0001c0004t0004g0014 a0001c0004t0026g0013 a0001c0006t0004g0022 a0002c0005t0005g0035 a0006c0009t0001g0054 a0008c0013t0003g0037	35	133	0.2632	360	c.-21 others(379): Show c.-212-6509_-212-6508insAGGCAGTGAGTGTGGATGTGGGGAGG CCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGCCCAGGGC AGTGAGTGTGGACGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATG TGGGGAGGCCTGGGAGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGG TGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGAGCCCGGGGCAGTGAG TGTGGATGTGGGGAGGCCTGAGCCCGGGGCAGTGAGTGTGGATGTGGGGA GGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGG GCAGTGAGTGTGGATGTGGGGAGGCCTGAGCCCG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	340442	C C	CCGGGCTC others(353): Show CCGGGCTCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCT CCCCACATCCACACTCACTGCCCCGGGCTCAGGCCTCCCCACATCCACAC TCACTGCCCCGGGCTCAGGCCTCCCCACATCCACACTCACTGCCCCGGGC TCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCAC ATCCACACTCACTGCCCCCCTCCCAGGCCTCCCCACATCCACACTCACTG CCCCCCACCCAGGCCTCCCCACGTCCACACTCACTGCCCTGGGCCCAGGC CTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACATCCAC ACTCACTGCCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02895.hp1 HG03453.hp2 others(2): Show HG01167.hp1 HG02895.hp1 HG03453.hp2 HG03516.hp1 NA19043.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0003 a0003c0012 others(1): Show a0001c0001 a0001c0003 a0003c0012 a0007c0014	a0001c0001t0003 a0001c0001t0005 a0001c0003t0028 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0003t0028 a0003c0012t0005 a0007c0014t0018	a0001c0001t0003g0101 a0001c0001t0005g0100 a0001c0003t0028g0088 others(2): Show a0001c0001t0003g0101 a0001c0001t0005g0100 a0001c0003t0028g0088 a0003c0012t0005g0020 a0007c0014t0018g0102	5	133	0.0376	360	c.-21 others(379): Show c.-212-6509_-212-6508insAGGCAGTGAGTGTGGATGTGGGGAGG CCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGCCCAGGGC AGTGAGTGTGGACGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATG TGGGGAGGCCTGGGAGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGG TGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGAGCCCGGGGCAGTGAG TGTGGATGTGGGGAGGCCTGAGCCCGGGGCAGTGAGTGTGGATGTGGGGA GGCCTGAGCCCGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGG GCAGTGAGTGTGGATGTGGGGAGGCCTGAGCCCG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	340478	C C	CCCCACCC others(353): Show CCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCGGGCTCAGGCCT CCCCACATCCACACTCACTGCCCCGGGCTCAGGCCTCCCCACATCCACAC TCACTGCCCCGGGCTCAGGCCTCCCCACATCCACACTCACTGCCCCCCAC CCAGGCCTCCCCACATCCACACTCACTGCCCCCCTCCCAGGCCTCCCCAC ATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACGTCCACACTCACTG CCCTGGGCCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGC CTCCCCACATCCACACTCACTGCCTCCCACCCAGGCCTCCCCACATCCAC ACTCACTGCCT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02135.hp2 HG02155.hp1 others(4): Show HG02074.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02723.hp2 NA18612.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 a0001c0001 a0001c0004 a0001c0008	a0001c0001t0001 a0001c0001t0011 a0001c0001t0037 others(2): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0037 a0001c0004t0001 a0001c0008t0001	a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0089 others(4): Show a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0089 a0001c0001t0011g0003 a0001c0001t0037g0058 a0001c0004t0001g0046 a0001c0008t0001g0044	7	133	0.0526	360	c.-21 others(379): Show c.-212-6545_-212-6544insAGGCAGTGAGTGTGGATGTGGGGAGG CCTGGGTGGGAGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGC AGTGAGTGTGGATGTGGGGAGGCCTGGGCCCAGGGCAGTGAGTGTGGACG TGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGG AGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGAG TGTGGATGTGGGGAGGCCTGAGCCCGGGGCAGTGAGTGTGGATGTGGGGA GGCCTGAGCCCGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGAGCCCGGG GCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9						chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743919	A A	ACTAGCAC others(353): Show ACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCT GGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAG CCCTGGTTGCTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCTACTAGC ACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTAC TAGTACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTC CTGGTTACTAGCAGAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGTTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0017 a0001c0018t0017	a0001c0018t0017g0140 a0001c0018t0017g0140	1	196	0.0051	360	c.655 others(379): Show c.655-10085_655-10084insCTATCCTGGCTACTAGCACAGCCCTG GTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGT CCTGGCTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCA GAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACT AGCACTATCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGT TACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCC TGGTTACTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACA GCCCTGGCTACTAGCACTGTCCTGGTTGCTAGCA		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744052	C C	CTGTCCTG others(353): Show CTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACT AGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCACAGCCCTGGC TACTAGCACTATCCTGGTTACTAGCACAGCCCTGGTTGCTAGCACTGTCC TGGTTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACA GCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAG CACTGTCCTGGCTACTAGCACAGCCCTGGTTACGAGCACAGCCCTGGTTA CTAGCAGAGCCCTGGCTACTAGCACTATCCTGGTTACTAGCACAGCCCTG GCTACTAGCAG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0076 a0001c0006t0076	a0001c0006t0076g0192 a0001c0006t0076g0192	1	196	0.0051	360	c.655 others(377): Show c.655-9958_655-9957insTGTCCTGGTTACTAGCACAGCCCTGGCT ACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTGCTAGCACTGTCCT GGTTACTAGCACAGCCCTGGCTACTAGCACTATCCTGGTTACTAGCACAG CCCTGGTTGCTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGG TTACGAGCACAGCCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTATC CTGGTTACTAGCACAGCCCTGGCTACTAGCAG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33						chr17	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TATAACAT others(353): Show TATAACATATAATATATAATATATATTATATATAATATATTATATATAAT ATATTATATATTATATATAATATATATTATATATAATATAATATATATTA TATATAATATATAATATATATTATATGTTATATATAATATATATTTATAT GTTATATATAATATATATTATATATTATATATAATATATAATATATATTA CATATAATATATAATATATATTATATATTATATATTATATATTATATATT ATATGTAATATATATTATATATTATATATAATATATAAATATATATTATA TATATTTAATATATATTTTATATATAAATATATATTATATATATAATATA TATTTTATATA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	188	0.0053	360	c.193 others(379): Show c.193-29585_193-29584insTATATAAAATATATATTATATATATA ATATATATTTATATATAAAATATATATTAAATATATATAATATATATTTA TATATTATATATAATATATAATATATATTACATATAATATATAATATATA ATATATAATATATAATATATATTATATATTATATGTAATATATATTATAT ATTATATATAATATATAATATATATTATATATAACATATAAATATATATT ATATATAACATATAATATATATTATATATTATATATAATATATATTATAT TATATATAATATATATTATATATAATATATAATATATTATATATAATATA TTATATATAATATATATTATATATTATATGTTAT		SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3						chr8	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(353): Show GGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGG GGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGGGTTGGGTGAGGGG GGTGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTT GGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGGGT TGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTT GGGTGAGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGG GGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGAGTGA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0011 a0011	a0011c0023 a0011c0023	a0011c0023t0001 a0011c0023t0001	a0011c0023t0001g0265 a0011c0023t0001g0265	1	290	0.0035	360	c.464 others(373): Show c.464+91_464+92insTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTG GGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGGGTTGGG TGAGGGGGGTGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGT TGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGG GGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGG GGGGGTTGGGTGAGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGG GGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGG GGTGGGGGGGTTGAGTGAGGGGGTTGGG		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(353): Show CATATATATATATTCCATATATATATATTCCATATATATATATTCCATAT ATATATATTCCATATATATATATTCCATATATATATATTCCATATATATA TATTCCCTATATATATATTCCCTATATATATATTCCATATATATATATTC CATATATATATTCCATATATATATATTCCATATATATATATTTCATATAT ATATATTCCATATATATATATTTCATATATATATATTCCATATATATATT CCATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATTCCATATATATATATATATATATATTCCATATATATATA TATATATATAT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	324	0.0031	360	c.115 others(377): Show c.115-2706_115-2705insATATATATATATATATATATATGGAATA TATATATATATATATATATGGAATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATGGAATATATATATGGAATA TATATATATGAAATATATATATATGGAATATATATATATGAAATATATAT ATATGGAATATATATATATGGAATATATATATGGAATATATATATATGGA ATATATATATAGGGAATATATATATAGGGAATATATATATATGGAATATA TATATATGGAATATATATATATGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATAT		SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19						chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(353): Show CATATATATATATTCCATATATATATATTCCATATATATATATTCCATAT ATATATATTCCATATATATATATTCCCTATATATATATTCCATATATATA TATTCCCTATATATATATTCCATATATATATATTCCCTATATATATATTC CCTATATATATATTCCCTATATATATATTCCATATATATATTCCATATAT ATATATTCCATATATATATATTTCATATATATATATTCCATATATATATT CCATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATTCCATATATATATATATATATATATTCCATATATATATA TATATATATAT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	324	0.0031	360	c.115 others(377): Show c.115-2706_115-2705insATATATATATATATATATATATGGAATA TATATATATATATATATATGGAATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATGGAATATATATATGGAATA TATATATATGAAATATATATATATGGAATATATATATATGGAATATATAT ATGGAATATATATATAGGGAATATATATATAGGGAATATATATATAGGGA ATATATATATATGGAATATATATATAGGGAATATATATATATGGAATATA TATATAGGGAATATATATATATGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATAT		SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19						chr20	TogoVar
SEMA3C_chr7_80737538_80924051	80863884	T T	TATGTATG others(353): Show TATGTATGTGATATGTGATATATATATCACATATCACATACATATGTATC ACATACATATGTATCACATACATATGTATCACATACATATGTATCACATA CATATGTATCACATACATATGTATCACATACATATGTATCACATACATAT GTATCACATACATATGTATCACATACATATGTATCACATACATATGTATC ACATACATATGTATCACATACATATGTATCACATACATATGTATCACATA CATATGTATCACATACATATGTATCACATACATATGTATCACATACATAT GTATCACATACATATGTATCACATACATATGTATCACATATGTATCACAT ATATATCACAC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0171 a0001c0008t0005g0171	1	244	0.0041	360	c.104 others(379): Show c.104-35140_104-35139insGTGTGATATATATGTGATACATATGT GATACATATGTATGTGATACATATGTATGTGATACATATGTATGTGATAC ATATGTATGTGATACATATGTATGTGATACATATGTATGTGATACATATG TATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATGT GATACATATGTATGTGATACATATGTATGTGATACATATGTATGTGATAC ATATGTATGTGATACATATGTATGTGATACATATGTATGTGATACATATG TATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATGT GATATGTGATATATATATCACATATCACATACAT		SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17						chr7	TogoVar
SEPTIN9_chr17_77314518_77505593	77485015	G G	GCGATTGT others(353): Show GCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGG GGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTG ATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGGTGA TTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATT GTGGTGGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGAT TGTGATGGGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTAGTGGT GGTGATGGTGA	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0151 a0001c0001t0060g0151	1	158	0.0063	360	c.860 others(377): Show c.860-2409_860-2408insCGATTGTGGTGGTGAAGGGGGTGATGGT GGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGG GGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATG GTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTG GTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTG GTGATTGTGATGGTGGTGATTGTGGTGGTGGTGATGTGGGTGGTGGTGGT GATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGAT GGTGATTGTGGTGGTAGTGGTGGTGATGGTGA		SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10						chr17	TogoVar
SERINC2_chr1_31408213_31439678	31431776	A A	AATAGGGT others(353): Show AATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGTTAGG GTGGATAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGATGGTT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGTTAGGGTGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	376	0.0027	360	c.101 others(379): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGATAGGATG GTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGG ACAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGATGGTTAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGG TGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGG		SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr1	TogoVar

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