Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	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
LMF1_chr16_848634_975984	857692	T T	TCGGGACG others(413): Show TCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGAC GGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGT GTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGC AGTGGTGTCACGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAG TGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTG GTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGT CTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0223 a0001c0013t0001g0223	1	207	0.0048	420	c.153 others(439): Show c.1530-2987_1530-2986insTGACACCACTCACACCCGTCCCGAGA CACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTG CACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCA CACCCATCCCGAGACACCACTGCACACCCATCCCGTGACACCACTGCACA CCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCG TCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCC GTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGA CACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCG		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	857706	C C	AGTGGTGT others(413): Show AGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTG TCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTC GGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGA CGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACG GGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGG TGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGT GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCACGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0258 a0001c0005t0001g0258	1	82	0.0122	420	c.153 others(439): Show c.1530-3000_1530-2999insCACACCCGTCCCGTGACACCACTCAC ACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCC GTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTGCACACCCGTC CCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCC GAGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGA GACACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACA CCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCAC TCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCAC ACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	857706	C C	AGTGGTGT others(413): Show AGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTG TCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTC GGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGA TGGGTGTGCAGTGGTGTCACGGGATGGGTGTGCAGTGGTGTCTCGGGACG GGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGG TGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGT GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCACGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	82	0.0122	420	c.153 others(439): Show c.1530-3000_1530-2999insCACACCCGTCCCGTGACACCACTCAC ACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCC GTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTGCACACCCGTC CCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCC GAGACACCACTGCACACCCATCCCGTGACACCACTGCACACCCATCCCGA GACACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACA CCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCAC TCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCAC ACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	857706	C C	AGTGGTGT others(413): Show AGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTG TCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTC GGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGA TGGGTGTGCAGTGGTGTCACGGGATGGGTGTGCAGTGGTGTCTCGGGATG GGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGG TGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGT GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCACGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	82	0.0122	420	c.153 others(439): Show c.1530-3000_1530-2999insCACACCCGTCCCGTGACACCACTCAC ACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCC GTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTGCACACCCGTC CCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCATCCC GAGACACCACTGCACACCCATCCCGTGACACCACTGCACACCCATCCCGA GACACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACA CCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCAC TCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCAC ACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	857775	G G	GAGTGGTG others(413): Show GAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCA CGGGATGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCG GGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGG ACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGT GAGTGGTGTCACGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCGT GGTGTCACGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	289	0.0035	420	c.153 others(439): Show c.1530-3070_1530-3069insGCACACCCGTCCCGTGACACCACGCA CACCCGTCCCGAGACACCACGCACACCCGTCCCGTGACACCACTCACACC CGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTC CCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGT GACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGA CACCACTGCACACCCGTCCCGAGACACCACTGCACACCCATCCCGTGACA CCACTGCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCA CTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCA CACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LOC102723971_chr9_135609183_135624893	135620157	T T	TCTACTCC others(413): Show TCTACTCCCCCATCTCCCCCTTCTCCCCCTACTCCCCTTCTCCCCTTCTC CTCTTCTCCCCCTTCTCCCCCTACTCCCCTTCTCCCCCTTCTCCCCCATC TGCCCAGTATCCCCTTCTCCCCCTTCTTCCCCTACTCCCCCTACTCCCCC ATCTCCCTCTTCTCCCCTATCTCCCCCTTCTCCCCCTACTCCCCCTTCTC CCCCGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTCCCCCTACTCCCCCT TCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCATCTCCCTCTACTCCCCC TTCTCCCCCTTCTCCCCCTTCTCCCCCATCTCCCCCTACTCCCCCTTCTC CCCCTTCTCCCCCTTCCCCCTCTACTCCCCCTTCTCCCCCTACTCCTTCT CCCCTTCTCCCCCTTCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0077	1	429	0.0023	420	c.12 others(431): Show c.1205_*1206insCTACTCCCCCATCTCCCCCTTCTCCCCCTACTCC CCTTCTCCCCTTCTCCTCTTCTCCCCCTTCTCCCCCTACTCCCCTTCTCC CCCTTCTCCCCCATCTGCCCAGTATCCCCTTCTCCCCCTTCTTCCCCTAC TCCCCCTACTCCCCCATCTCCCTCTTCTCCCCTATCTCCCCCTTCTCCCC CTACTCCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCAGTCTCCCCCATCT CCCCCTACTCCCCCTTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCATC TCCCTCTACTCCCCCTTCTCCCCCTTCTCCCCCTTCTCCCCCATCTCCCC CTACTCCCCCTTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCCCTTCT CCCCCTACTCCTTCTCCCCTTCTCCCCCTTCCCCCC		LOC102723971	ENSG00000236543.3	transcript	ENST00000430816.3	protein_coding					265		chr9	TogoVar
LRP1_chr12_57123483_57218361	57191935	C C	CACACTAC others(413): Show CACACTACACACCCCACACACACACCACATACACACACCACACACACACC ACACCACATACACACACCACACACACACCACAAAACATACACACATTCCC CACACACACACCATACATACCACATACGCACACCACCGCACACACAATAC ATACACCACATAGCACACACACTGCAGCACACACGAGACACACACCACAC CATACAACACACCACACACACCACACAGGACATGTACACCACACACACAA CCAACACACATCACATGCACACACACATACACACACCACACATACTATAC CACATACACATGCAGTACACACACCACACCACACACACACCACATACACA GATACCACACACACTGCAGCACACACAAGACACACACCACACCATGCAAC ACACCACACACACACCACGCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp2 HG03098.hp2 others(4): Show HG02258.hp1 HG02486.hp2 HG03098.hp2 HG03453.hp2 HG03579.hp2 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0007 a0001c0032 a0001c0007 a0001c0032	a0001c0007t0006 a0001c0007t0011 a0001c0007t0017 others(1): Show a0001c0007t0006 a0001c0007t0011 a0001c0007t0017 a0001c0032t0006	a0001c0007t0006g0130 a0001c0007t0006g0173 a0001c0007t0006g0176 others(4): Show a0001c0007t0006g0130 a0001c0007t0006g0173 a0001c0007t0006g0176 a0001c0007t0011g0094 a0001c0007t0011g0095 a0001c0007t0017g0234 a0001c0032t0006g0053	7	131	0.0534	420	c.742 others(437): Show c.7429+427_7429+428insTACACACCCCACACACACACCACATACA CACACCACACACACACCACACCACATACACACACCACACACACACCACAA AACATACACACATTCCCCACACACACACCATACATACCACATACGCACAC CACCGCACACACAATACATACACCACATAGCACACACACTGCAGCACACA CGAGACACACACCACACCATACAACACACCACACACACCACACAGGACAT GTACACCACACACACAACCAACACACATCACATGCACACACACATACACA CACCACACATACTATACCACATACACATGCAGTACACACACCACACCACA CACACACCACATACACAGATACCACACACACTGCAGCACACACAAGACAC ACACCACACCATGCAACACACCACACACACACCACGCAACAC		LRP1	ENSG00000123384.14	transcript	ENST00000243077.8	protein_coding	44/88					INFO_REALIGN_3_PRIME	chr12	TogoVar
LRP1_chr12_57123483_57218361	57191935	C C	CACACTAC others(413): Show CACACTACACACCCCACACACACACCACATACACACACCACACACACACC ACACCACATACACACACCACACACACACCACAAAACATACACACATTCCC CACACACACACCATACATACCACATACGCACACCACCGCACACACAATAC ATACACCACATAGCACACACACTGCAGCACACACGAGATACACACCACAC CATACAACACACCACACACACCACACAGGACATGTACACCACACACACAA CCAACACACATCACATGCACACACACATACACACACCACACATACTATAC CACATACACATGCAGTACACACACCACACCACACACACACCACATACACA GATACCACACACACTGCAGCACACACAAGACACACACCACACCATGCAAC ACACCACACACACACCACGCA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02258.hp2 HG03041.hp1 HG01517.hp2 HG02258.hp2 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0006t0004 a0001c0002t0001 a0001c0006t0004	a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0006t0004g0200 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0006t0004g0200	3	127	0.0236	420	c.742 others(437): Show c.7429+427_7429+428insTACACACCCCACACACACACCACATACA CACACCACACACACACCACACCACATACACACACCACACACACACCACAA AACATACACACATTCCCCACACACACACCATACATACCACATACGCACAC CACCGCACACACAATACATACACCACATAGCACACACACTGCAGCACACA CGAGATACACACCACACCATACAACACACCACACACACCACACAGGACAT GTACACCACACACACAACCAACACACATCACATGCACACACACATACACA CACCACACATACTATACCACATACACATGCAGTACACACACCACACCACA CACACACCACATACACAGATACCACACACACTGCAGCACACACAAGACAC ACACCACACCATGCAACACACCACACACACACCACGCAACAC		LRP1	ENSG00000123384.14	transcript	ENST00000243077.8	protein_coding	44/88					INFO_REALIGN_3_PRIME	chr12	TogoVar
LRP1_chr12_57123483_57218361	57191935	C C	CACACTAC others(413): Show CACACTACACACCCCACACACACACCACATACACACACCACACACACACC ACACCACATACACACACCACACACACACCACAAAACATACACACATTCCC CACACACACACCATACATACCACATACGCACACCACCGCACACACAATAC ATACACCACATAGCACACACACTGCAGCACACACGAGATACACACCACAC CATACAACACACCACACACACCACACAGGACATGTACACCACACACACAA CCAACACACATCACATGCACACACACATACACACACCACACATACTATAC CACATACACATGCAGTACACACACCACACCACACACACACCACATACACA GATACCACACACACTGCAGCACACACAAGACACACACCACACCATGTAAC ACACCACACACACACCACGCA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00408.hp2 others(135): Show HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03927.hp2 HG04199.hp2 HG04204.hp1 NA18612.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp2 NA18967.hp1 NA18975.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19004.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19064.hp2 NA19067.hp2 NA19074.hp2 NA19079.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp2	a0001 a0003 a0007 others(7): Show a0001 a0003 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0018	a0001c0001 a0001c0003 a0001c0005 others(28): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0001c0011 a0001c0023 a0001c0025 a0001c0028 a0001c0029 a0001c0033 a0001c0043 a0001c0045 a0001c0048 a0001c0049 a0001c0050 a0001c0054 a0001c0056 a0001c0064 a0001c0065 a0001c0068 a0003c0015 a0007c0047 a0008c0051 a0009c0044 a0010c0053 a0012c0061 a0013c0063 a0014c0066 a0018c0046	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0001t0015 a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0003t0008 a0001c0003t0016 a0001c0005t0001 a0001c0005t0007 a0001c0006t0004 a0001c0009t0001 a0001c0010t0002 a0001c0010t0003 a0001c0010t0010 a0001c0011t0002 a0001c0023t0001 a0001c0023t0013 a0001c0025t0002 a0001c0028t0003 a0001c0029t0001 a0001c0033t0004 a0001c0043t0001 a0001c0045t0002 a0001c0048t0002 a0001c0049t0003 a0001c0050t0002 a0001c0054t0002 a0001c0056t0001 a0001c0064t0001 a0001c0065t0001 a0001c0068t0002 a0003c0015t0004 a0007c0047t0010 a0008c0051t0002 a0009c0044t0002 a0010c0053t0018 a0012c0061t0001 a0013c0063t0001 a0014c0066t0002 a0018c0046t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0015 others(130): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0034 a0001c0001t0002g0060 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0121 a0001c0001t0002g0138 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0152 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0177 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0190 a0001c0001t0002g0198 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0248 a0001c0001t0002g0254 a0001c0001t0003g0007 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0153 a0001c0001t0003g0165 a0001c0001t0003g0174 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0199 a0001c0001t0003g0213 a0001c0001t0003g0253 a0001c0001t0004g0047 a0001c0001t0005g0169 a0001c0001t0005g0195 a0001c0001t0014g0230 a0001c0001t0015g0140 a0001c0003t0001g0046 a0001c0003t0001g0066 a0001c0003t0001g0075 a0001c0003t0001g0079 a0001c0003t0001g0081 a0001c0003t0001g0082 a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0003t0001g0158 a0001c0003t0001g0166 a0001c0003t0001g0185 a0001c0003t0001g0249 a0001c0003t0001g0255 a0001c0003t0004g0231 a0001c0003t0005g0147 a0001c0003t0005g0180 a0001c0003t0008g0203 a0001c0003t0016g0062 a0001c0005t0001g0008 a0001c0005t0001g0205 a0001c0005t0001g0208 a0001c0005t0001g0211 a0001c0005t0001g0264 a0001c0005t0007g0212 a0001c0006t0004g0011 a0001c0006t0004g0088 a0001c0006t0004g0097 a0001c0006t0004g0098 a0001c0006t0004g0122 a0001c0009t0001g0064 a0001c0009t0001g0136 a0001c0009t0001g0137 a0001c0009t0001g0154 a0001c0009t0001g0178 a0001c0010t0002g0003 a0001c0010t0002g0052 a0001c0010t0003g0239 a0001c0010t0010g0193 a0001c0011t0002g0026 a0001c0011t0002g0027 a0001c0011t0002g0029 a0001c0011t0002g0030 a0001c0023t0001g0089 a0001c0023t0013g0112 a0001c0025t0002g0043 a0001c0025t0002g0044 a0001c0028t0003g0040 a0001c0028t0003g0041 a0001c0029t0001g0037 a0001c0029t0001g0038 a0001c0033t0004g0090 a0001c0043t0001g0024 a0001c0045t0002g0202 a0001c0048t0002g0077 a0001c0049t0003g0247 a0001c0050t0002g0142 a0001c0054t0002g0057 a0001c0056t0001g0114 a0001c0064t0001g0218 a0001c0065t0001g0179 a0001c0068t0002g0058 a0003c0015t0004g0031 a0003c0015t0004g0092 a0003c0015t0004g0105 a0007c0047t0010g0085 a0008c0051t0002g0134 a0009c0044t0002g0161 a0010c0053t0018g0115 a0012c0061t0001g0086 a0013c0063t0001g0103 a0014c0066t0002g0080 a0018c0046t0001g0051	138	262	0.5267	420	c.742 others(437): Show c.7429+427_7429+428insTACACACCCCACACACACACCACATACA CACACCACACACACACCACACCACATACACACACCACACACACACCACAA AACATACACACATTCCCCACACACACACCATACATACCACATACGCACAC CACCGCACACACAATACATACACCACATAGCACACACACTGCAGCACACA CGAGATACACACCACACCATACAACACACCACACACACCACACAGGACAT GTACACCACACACACAACCAACACACATCACATGCACACACACATACACA CACCACACATACTATACCACATACACATGCAGTACACACACCACACCACA CACACACCACATACACAGATACCACACACACTGCAGCACACACAAGACAC ACACCACACCATGTAACACACCACACACACACCACGCAACAC		LRP1	ENSG00000123384.14	transcript	ENST00000243077.8	protein_coding	44/88					INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRC14_chr8_144512992_144530172	144513791	C C	CGTGGGGA others(413): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGT CGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGT GAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0001 a0001c0001t0045g0001	1	303	0.0033	420	c.-43 others(431): Show c.-4362_-4361insGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGG GGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCC TGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG		LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding					4200		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513791	C C	CGTGGGGA others(413): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA20805.hp2 NA19055.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0001 a0001c0001t0004g0001 a0001c0001t0002g0001 a0001c0001t0004g0001	2	304	0.0066	420	c.-43 others(431): Show c.-4362_-4361insGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG		LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding					4200		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(413): Show TGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGAGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGG TCGGCGTGGGCGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0001 a0001c0001t0087g0001	1	220	0.0045	420	c.-43 others(431): Show c.-4353_-4352insGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGAGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGTAGGGGTCGGCGTGGGCGGTGGGGAGA		LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding					4191		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(413): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGG TCGGCGTGGGCGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00423.hp2 others(106): Show HG00099.hp2 HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02293.hp2 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG03017.hp1 HG03491.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18943.hp1 NA18946.hp2 NA18947.hp1 NA18954.hp1 NA18955.hp1 NA18969.hp2 NA18970.hp2 NA18974.hp2 NA18980.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18987.hp2 NA18991.hp2 NA18997.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19068.hp2 NA19070.hp2 NA19075.hp1 NA19077.hp2 NA19080.hp2 NA19082.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 a0001c0001 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(13): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0020 a0001c0001t0023 a0001c0001t0035 a0001c0001t0036 a0001c0001t0047 a0001c0001t0059 a0001c0001t0074 a0001c0001t0076 a0001c0001t0077 a0001c0005t0001 a0001c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0015 others(17): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0005g0002 a0001c0001t0006g0002 a0001c0001t0007g0002 a0001c0001t0013g0002 a0001c0001t0013g0006 a0001c0001t0013g0010 a0001c0001t0020g0002 a0001c0001t0023g0002 a0001c0001t0035g0008 a0001c0001t0036g0002 a0001c0001t0047g0002 a0001c0001t0059g0002 a0001c0001t0074g0002 a0001c0001t0076g0002 a0001c0001t0077g0002 a0001c0005t0001g0002 a0001c0006t0001g0002	109	328	0.3323	420	c.-43 others(431): Show c.-4353_-4352insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTG GGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA		LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding					4191		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(413): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGAGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGG TCGGCGTGGGCGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG03041.hp2 HG03209.hp2 HG02258.hp1 HG03041.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0084 a0001c0001t0086 a0001c0001t0083 a0001c0001t0084 a0001c0001t0086	a0001c0001t0083g0001 a0001c0001t0084g0001 a0001c0001t0086g0001 a0001c0001t0083g0001 a0001c0001t0084g0001 a0001c0001t0086g0001	3	222	0.0135	420	c.-43 others(431): Show c.-4353_-4352insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGAGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGTAGGGGTCGGCGTGGGCGGTGGGGAGA		LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding					4191		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(413): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGG TCGGCGTGGGCGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0002 a0001c0001t0007g0002	1	220	0.0045	420	c.-43 others(431): Show c.-4353_-4352insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTG GGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA		LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding					4191		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(413): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGG CGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGG TCGGCGTGGGCGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0002 a0001c0001t0075g0002	1	220	0.0045	420	c.-43 others(431): Show c.-4353_-4352insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGG AGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTG GGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA		LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding					4191		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513804	G G	GAGGGGTC others(413): Show GAGGGGTCAGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGT GGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGG CCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0012 a0001c0001t0049g0012	1	349	0.0029	420	c.-43 others(431): Show c.-4349_-4348insAGGGGTCAGCGTGGGCAGTGGGGAGTGAGGAGGG GTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGA GTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGT		LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding					4187		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513834	A A	GAGGGGTC others(413): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	3	0.3333	420	c.-43 others(430): Show c.-4319delAinsGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGT		LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding					4158		chr8	TogoVar
LRRC23_chr12_6899822_6919229	6909274	T T	TATATATA others(413): Show TATATATAATTATATATAATATATAATTATATATTATATCTAATTATATA TAATATATATATATTATATATATAATAATATATATACAATATATAATTAT ATATTATATAATTATATATAATATATAATTATATATTATATATAATATAT AATTATATATTATATATAATATATAATTATATATTATATATAATATATAA TTATATATTATATAATAATATATAATTATTAATATATAATTATATATAAT ATATAATTATATATTATATAATAATATATAATTATATATTATATATAATT ATATATTATATAATAATATATAATTATATATTATATATAATTATATATTA TATAATAACATATAATTATATATAATATATAAATATATAATATATAAATA TATAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01517.hp1 HG01256.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0063 a0001c0001t0001g0064	2	58	0.0345	420	c.622 others(435): Show c.622-596_622-595insTATAATTATATATTATATCTAATTATATAT AATATATATATATTATATATATAATAATATATATACAATATATAATTATA TATTATATAATTATATATAATATATAATTATATATTATATATAATATATA ATTATATATTATATATAATATATAATTATATATTATATATAATATATAAT TATATATTATATAATAATATATAATTATTAATATATAATTATATATAATA TATAATTATATATTATATAATAATATATAATTATATATTATATATAATTA TATATTATATAATAATATATAATTATATATTATATATAATTATATATTAT ATAATAACATATAATTATATATAATATATAAATATATAATATATAAATAT ATAATATATAAATATATATAATATATAATTATATATAATA		LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRC27_chr10_132327193_132386508	132364477	C C	CCACGCTT others(413): Show CCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTC ACACCCACCCTTACATCTACCTCCACACCCACACTTACACTCATGCTTAC ATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCCACCCTT ACATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCCACCC TTACATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCCAC CCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCC ACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACCCTTACATCTACCTCCA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0181	1	215	0.0047	420	c.129 others(437): Show c.1290-944_1290-943insGCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTCACACCCACCCTTACATCTACCTCCACACCCAC ACTTACACTCATGCTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACACCC ACCCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACAC CCACCCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACCCTTACATCTACCTCCACAC		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
LSS_chr21_46183446_46233774	46184616	A A	ACCAACCC others(413): Show ACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCCAC CACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGCACC CACCACCACCAACCCAGTGGGCCGGCCACACCTCACCACCACCAACCCAG TGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCACCA ACCCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGGCACTCAGGAC CACCCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTAC TCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGAC GGGCACCCACACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCT GTGACGGGCACCCACCACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	356	0.0028	420	c.64 others(431): Show c.6487_*6488insGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTG TGGCCGGCCCACTGGGTTGGTGGTGGTGTGGGTGCCCGTCACAGGGCTGG AGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTACCCATCACAG GGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGGTGGTCCTGAGTGCCC CGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGGTTGGTGGTGGTCCT GAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGT GGTGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCATCACA GGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGGTGCCCGT CACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGG		LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding					3829		chr21	TogoVar
LUC7L_chr16_183990_234449	186527	G G	GAGGAACA others(413): Show GAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACA CGGAGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGAGGGAACAG CGACACGGGGGGAACAGCGACACGGGGAGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	309	0.0032	420	c.26 others(431): Show c.2670_*2671insTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTT CCCTCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCT GTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGC TGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGT CGCTGTTCCTCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCTCCGT GTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCC CGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCC CCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCT CCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCT		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2462		chr16	TogoVar
MAGEC1_chrX_141898894_141914374	141906035	T T	TTGAGTAT others(413): Show TTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGG TTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCA CTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTT GAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTC CTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTA CTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCC TTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCA GAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCC CCTCCTTCTCCTCCACTTTAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02109.hp1 HG03041.hp1 HG02109.hp1 HG03041.hp1	a0012 a0012	a0012c0009 a0012c0009	a0012c0009t0002 a0012c0009t0002	a0012c0009t0002g0002 a0012c0009t0002g0002	2	354	0.0056	420	c.661 others(427): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCA GTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGA GTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTT GCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTT AGTGAGTATTTTCCAGAGTTCCCCTGAGAGAA	p.Arg others(433): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArgThrGlnSerThrPheGluGlyP heProGlnSerProLeuGlnIleProValSerArgSerPheSerSerThr LeuLeuSerIlePheGlnSerSerProGluArgThrGlnSerThrPheGl uGlyPheAlaGlnSerProLeuGlnIleProValSerProSerPheSerS erThrLeuValSerIlePheGlnSerSerProGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906070	G G	GAGTACTT others(413): Show GAGTACTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCC CCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGA ACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGT GAGCCCCTCCTTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTG AGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATT CCTGTGAGCTCCTCCTCCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTC CCCTGAGAGAACTCACAGTACTTTTGAGGGTTTTCCCCAGTCTCTTCTCC AGATTCCTATGACCTCCTCCTTCTCCTCTACTTTATTGAGTATTTTCCAG AGTTCTCCTGAGAGTGCTCAA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18971.hp1 NA18971.hp1	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0001 a0014c0014t0001	a0014c0014t0001g0002 a0014c0014t0001g0002	1	353	0.0028	420	c.684 others(427): Show c.684_685insCCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTC CTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGA GTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCC TCCTTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAAC TCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGA GCTCCTCCTCCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAG AGAACTCACAGTACTTTTGAGGGTTTTCCCCAGTCTCTTCTCCAGATTCC TATGACCTCCTCCTTCTCCTCTACTTTATTGAGTATTTTCCAGAGTTCTC CTGAGAGTGCTCAAAGTACTTTTGAGGGTTTT	p.Phe others(433): Show p.Phe228_Ala229insProGlnSerProLeuGlnIleProValSerPr oSerSerSerSerThrLeuLeuSerLeuPheGlnSerPheSerGluArgT hrGlnSerThrPheGluGlyPheAlaGlnSerSerLeuGlnIleProVal SerProSerPheSerSerThrLeuLeuSerLeuPheGlnSerSerProGl uArgThrGlnSerThrPheGluGlyPheProGlnSerProLeuGlnIleP roValSerSerSerSerSerSerThrLeuLeuSerLeuPheGlnSerSer ProGluArgThrHisSerThrPheGluGlyPheProGlnSerLeuLeuGl nIleProMetThrSerSerPheSerSerThrLeuLeuSerIlePheGlnS erSerProGluSerAlaGlnSerThrPheGluGlyPhe	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	971/4256	685/3429	229/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906175	G G	GAGTACTT others(413): Show GAGTACTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCC GCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGA AGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGT GAGCGCCGCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTG AGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATT CCTGTGAGCCGCTCCTTCTCCTCCACTTTACTGAGTATTTTCCAGAGTTC CCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCC AGATTCCTATGACCTCCTCCTTCTCCTCTACTTTATTGAGTATTTTCCAG AGTTCTCCTGAGAGTGCTCAA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03486.hp1 HG03486.hp1	a0027 a0027	a0027c0020 a0027c0020	a0027c0020t0003 a0027c0020t0003	a0027c0020t0003g0005 a0027c0020t0003g0005	1	352	0.0028	420	c.789 others(427): Show c.789_790insCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTT CTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGA GAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCGCC GCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAAC TCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGA GCCGCTCCTTCTCCTCCACTTTACTGAGTATTTTCCAGAGTTCCCCTGAG AGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCC TATGACCTCCTCCTTCTCCTCTACTTTATTGAGTATTTTCCAGAGTTCTC CTGAGAGTGCTCAAAGTACTTTTGAGGGTTTT	p.Phe others(433): Show p.Phe263_Ala264insProGlnSerProLeuGlnIleProValSerAr gSerPheSerSerThrLeuLeuSerIlePheGlnSerSerProGluArgS erGlnArgThrSerGluGlyPheAlaGlnSerProLeuGlnIleProVal SerAlaAlaSerSerSerThrLeuLeuSerLeuPheGlnSerSerProGl uArgThrGlnSerThrPheGluGlyPheProGlnSerProLeuGlnIleP roValSerArgSerPheSerSerThrLeuLeuSerIlePheGlnSerSer ProGluArgThrGlnSerThrPheGluGlyPheAlaGlnSerProLeuGl nIleProMetThrSerSerPheSerSerThrLeuLeuSerIlePheGlnS erSerProGluSerAlaGlnSerThrPheGluGlyPhe	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1076/4256	790/3429	264/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396679	T T	TATATATA others(413): Show TATATATATTCATATATAGATTCATATATATATATTCATATATAGATTCA TATATATATTCATATATAGATTCATATATATTCATATATAGATTCATATA TATTCATATATAGATTCATATATAGATTCATATATAGATTCATATATATT CATATATATATTCATATATATATTCATATATATATTCATATATATTCATA TATATTCATATATATATTCATATATATATTCATATATATATTCATATATA TATTCATATATATTCATATATATATTCATATATATATTCATATATATATT CATATATATTCATATATATATTCATATATATATTCATATATATATTCATA TATATTCATATATATTCATATATATATTCATATATATTCATATATATTCA TATATATATTCATATATATTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0158 a0001c0001t0020g0158	1	129	0.0078	420	c.343 others(437): Show c.343-4346_343-4345insGAATATATATGAATATATATATGAATAT ATATGAATATATATGAATATATATATGAATATATATGAATATATATGAAT ATATATATGAATATATATATGAATATATATATGAATATATATGAATATAT ATATGAATATATATATGAATATATATATGAATATATATGAATATATATAT GAATATATATATGAATATATATATGAATATATATATGAATATATATGAAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATGAATCTATATATGAATCTATATATGAATCTATATATGAATATATATGA ATCTATATATGAATATATATGAATCTATATATGAATATATATATGAATCT ATATATGAATATATATATATGAATCTATATATGAATATATAT		MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8						chrX	TogoVar
MBP_chr18_76973833_77137783	76978672	A A	ATCGACCC others(413): Show ATCGACCCTCTGATGAGGATGCCCCCTCCAACAGGCACCGCCAGGCAGCC CTGCCTCGAGACCCAGAGGCACCGAGTCACATTTGCTCTGCACACCTGGC TCTCGCTTGATGTGGGCCTGTGTGCTACAGCCCGGAACACAAAAGAAGAC ACCCATGCAAATACCATTAAAAGTTTATTGTTTTATTTCAATATTCAGGA ACAGTGTACACTTTCCGTTCAGCCATCGTCACAGCACGTGCTGTGTGGGT GCGGCCACGTATGGATCGCAGAGCCGACCTCAGCTCAGCGACGCAGAGTG CTTCTGCTGAAAAATTTGGAGGTTTGTGTCTGGAGTTTTGTTCTTTGTAA CCCTCTCATCATCGAGGCTATATATTAATAGACATGGTATTAAGCCCACA CGAAACATTCAGAATTAGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0384 a0001c0001t0008g0384	1	394	0.0025	420	c.17 others(431): Show c.1754_*1755insATTCTAATTCTGAATGTTTCGTGTGGGCTTAATA CCATGTCTATTAATATATAGCCTCGATGATGAGAGGGTTACAAAGAACAA AACTCCAGACACAAACCTCCAAATTTTTCAGCAGAAGCACTCTGCGTCGC TGAGCTGAGGTCGGCTCTGCGATCCATACGTGGCCGCACCCACACAGCAC GTGCTGTGACGATGGCTGAACGGAAAGTGTACACTGTTCCTGAATATTGA AATAAAACAATAAACTTTTAATGGTATTTGCATGGGTGTCTTCTTTTGTG TTCCGGGCTGTAGCACACAGGCCCACATCAAGCGAGAGCCAGGTGTGCAG AGCAAATGTGACTCGGTGCCTCTGGGTCTCGAGGCAGGGCTGCCTGGCGG TGCCTGTTGGAGGGGGCATCCTCATCAGAGGGTCGA		MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding					160		chr18	TogoVar
MELTF_chr3_196996740_197034817	197030146	G G	GCACAGCT others(413): Show GCACAGCTGCACAGAGGATCTGGGATACGGGGGAGCCCAGGCCGAGCGCC CTGGCGAGGGGGGAGCCGGGCAGGGGCACCTCGGCCACAGCTGCACAGAG GATCTGGGATACGGGGGAGCCCAGGCCGAGCGCCCTGGCGAGGGGGGAGC CGGGCAGGGGCACCTCGGCCACGGCTGCACAGAGGATCTGGGATACAGGG GAGCCCAGGCCGAGCGCCCTGGCGAGGGGGGAGCCGGGCAGGGGCATCTC GGCCACAGCTGCACAGAGGATCTGGGATACAGGGGAGCCCAGGCCGAGCG CCCTGGCGAGGGGGGAGCCGGGCAGGGGCATCTCGGCCACAGCTGCACAG AGGATCTGGGATACGGGGGAGCCCAGGCCGAGCGCCCTGGCGAGGGGGGA GCCGGGCAGGGGCATCTCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0006 a0006	a0006c0017 a0006c0017	a0006c0017t0007 a0006c0017t0007	a0006c0017t0007g0063 a0006c0017t0007g0063	1	248	0.0040	420	c.-44 others(429): Show c.-445_-444insGCCGAGATGCCCCTGCCCGGCTCCCCCCTCGCCAGG GCGCTCGGCCTGGGCTCCCCCGTATCCCAGATCCTCTGTGCAGCTGTGGC CGAGATGCCCCTGCCCGGCTCCCCCCTCGCCAGGGCGCTCGGCCTGGGCT CCCCTGTATCCCAGATCCTCTGTGCAGCTGTGGCCGAGATGCCCCTGCCC GGCTCCCCCCTCGCCAGGGCGCTCGGCCTGGGCTCCCCTGTATCCCAGAT CCTCTGTGCAGCCGTGGCCGAGGTGCCCCTGCCCGGCTCCCCCCTCGCCA GGGCGCTCGGCCTGGGCTCCCCCGTATCCCAGATCCTCTGTGCAGCTGTG GCCGAGGTGCCCCTGCCCGGCTCCCCCCTCGCCAGGGCGCTCGGCCTGGG CTCCCCCGTATCCCAGATCCTCTGTGCAGCTGTG		MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding					330		chr3	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(413): Show TAAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTT GTAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAG GCTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGA AGACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCA CAAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCT CTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGG CGGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAA CAGAGCGAGACGCCATCTCAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03225.hp2 NA18944.hp1 HG02622.hp2 HG03225.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0123 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0123	3	243	0.0123	420	c.112 others(437): Show c.1122-167_1122-166insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAA		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(413): Show TAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTG TAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGG CTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAA GACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCAC AAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGC GGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAAC AGAGCGAGACGCCATCTCAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01255.hp2 HG01257.hp1 others(10): Show HG00642.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01496.hp2 HG01943.hp1 HG02004.hp2 HG02165.hp2 HG02258.hp2 HG03540.hp1 HG04204.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0005t0001 a0001c0001t0001 a0001c0001t0003 a0001c0005t0001	a0001c0001t0001g0014 a0001c0001t0001g0043 a0001c0001t0001g0050 others(6): Show a0001c0001t0001g0014 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0003g0222 a0001c0005t0001g0218	13	253	0.0514	420	c.112 others(437): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAA		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(413): Show TAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGT AGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGC TACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAG ACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACA AGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCG GAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACA GAGCGAGACGCCATCTCAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 NA18965.hp2 NA19011.hp1 others(1): Show HG01516.hp1 NA18965.hp2 NA19011.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0057 a0001c0001t0002g0156 a0001c0001t0002g0157	4	244	0.0164	420	c.112 others(437): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAA		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735555	A A	AATAGGCA others(413): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0181	1	300	0.0033	420	c.112 others(437): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAATATATATATATA		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
MFSD3_chr8_144504070_144516213	144513791	C C	CGTGGGGA others(413): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGT CGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGT GAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	336	0.0030	420	c.26 others(431): Show c.2627_*2628insGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGG GGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCC TGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG		MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding					2579		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(413): Show TGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGAGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGG TCGGCGTGGGCGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0001 a0001c0007t0001g0001	1	210	0.0048	420	c.26 others(431): Show c.2636_*2637insGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGAGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGTAGGGGTCGGCGTGGGCGGTGGGGAGA		MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding					2588		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(413): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGG TCGGCGTGGGCGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(102): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02080.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02293.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02735.hp2 HG02738.hp2 HG03017.hp1 HG03491.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18939.hp1 NA18940.hp2 NA18943.hp2 NA18946.hp1 NA18947.hp1 NA18955.hp1 NA18961.hp1 NA18969.hp1 NA18970.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18984.hp1 NA18986.hp1 NA18987.hp1 NA18991.hp1 NA18997.hp1 NA19002.hp2 NA19009.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19075.hp2 NA19077.hp1 NA19080.hp1 NA19082.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA20300.hp2 NA20752.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0017 a0005c0006 others(1): Show a0001c0001 a0001c0017 a0005c0006 a0006c0010	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0017t0001 a0005c0006t0001 a0006c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0005g0001 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0005g0001 a0001c0001t0006g0001 a0001c0017t0001g0001 a0005c0006t0001g0001 a0006c0010t0001g0001	105	314	0.3344	420	c.26 others(431): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTG GGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA		MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding					2588		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(413): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGAGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGG TCGGCGTGGGCGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG03041.hp2 HG03209.hp2 HG02258.hp1 HG03041.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0001 a0001c0007t0001g0001 a0001c0007t0001g0006 a0001c0001t0001g0001 a0001c0007t0001g0001 a0001c0007t0001g0006	3	212	0.0142	420	c.26 others(431): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGAGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGTAGGGGTCGGCGTGGGCGGTGGGGAGA		MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding					2588		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(413): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGG TCGGCGTGGGCGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	210	0.0048	420	c.26 others(431): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTG GGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA		MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding					2588		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(413): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGG CGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGG TCGGCGTGGGCGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	210	0.0048	420	c.26 others(431): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGG AGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTG GGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA		MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding					2588		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513804	G G	GAGGGGTC others(413): Show GAGGGGTCAGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGT GGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGG CCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	348	0.0029	420	c.26 others(431): Show c.2640_*2641insAGGGGTCAGCGTGGGCAGTGGGGAGTGAGGAGGG GTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGA GTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGT		MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding					2592		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513834	A A	GAGGGGTC others(413): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 NA20805.hp2 HG04228.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	200	0.0100	420	c.26 others(430): Show c.2670delAinsGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGT		MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding					2621		chr8	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(413): Show TAAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTT GTAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAG GCTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGA AGACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCA CAAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCT CTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGG CGGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAA CAGAGCGAGACGCCATCTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG03225.hp2 NA18944.hp1 HG02622.hp1 HG03225.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0002g0002 a0001c0001t0002g0017 a0001c0001t0001g0003 a0001c0001t0002g0002 a0001c0001t0002g0017	3	225	0.0133	420	c.18 others(431): Show c.1863_*1864insTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGG AGTGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCG CCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCC TCGGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAG GCTGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCA ATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTAC CATGCCTGCCTATTTTTTTTTTTTTTTTTTTTTTTT		MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding					1768		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(413): Show TAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTG TAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGG CTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAA GACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCAC AAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGC GGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAAC AGAGCGAGACGCCATCTCAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01255.hp2 HG01257.hp1 others(9): Show HG00642.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01496.hp2 HG02004.hp2 HG02165.hp1 HG02258.hp2 HG03540.hp1 HG04204.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0002g0002 a0001c0001t0001g0003 a0001c0001t0002g0002	12	234	0.0513	420	c.18 others(431): Show c.1863_*1864insTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTG GAGTGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTC GCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGC CTCGGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCA GGCTGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTC AATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTA CCATGCCTGCCTATTTTTTTTTTTTTTTTTTTTTTT		MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding					1768		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(413): Show TAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGT AGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGC TACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAG ACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACA AGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCG GAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACA GAGCGAGACGCCATCTCAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 NA19011.hp2 NA19085.hp1 HG01516.hp2 NA19011.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0001 a0001c0001t0001g0009	3	225	0.0133	420	c.18 others(431): Show c.1863_*1864insTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCT GGAGTGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACT CGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAG CCTCGGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCC AGGCTGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCT CAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCT ACCATGCCTGCCTATTTTTTTTTTTTTTTTTTTTTT		MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding					1768		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735555	A A	AATAGGCA others(413): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	282	0.0035	420	c.18 others(431): Show c.1842_*1843insATATATATATATTTTTTTTTTTTTTGAGATGGCG TCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCACAATCTCGGCTCACT ACAAGCTCCGCCTCCCGGTTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGTACTCGCCACCACGCCCAGCTAATTTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCATGTTCACCAGGATGGTCTTGATCT CCTGACCTTGTGATCTGCCAGCCTCGGCATCCCAAATATATATTTTTAAA GACAGGGTCTTCCTGTCACCCAGGCTGGAGAGCAGCAGGGCAATCATAGC TCACTGTAGCCTCAAACACCTCAATCCTCCCACCTCAGCCTCCCAAGTAG CTGGGTCTACAAGTATGAGCTACCATGCCTGCCTAT		MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding					1747		chr1	TogoVar
MSH4_chr1_75791882_75918242	75885637	T T	TTATATAT others(413): Show TTATATATTGTTATTTATTATATATTATAATATATTATATATTATAATAT ATATTATATATTATATATTATAATATATTATATATTATAATATATATTAT ATATTATATATTATAATATATATACCTGATATATTTAAGGTATTATATAT AATACCTTATATATTATATATATAATACCTTATAAGGTATTATATATAAT ATTATATATTATATATAATATATATATTATATATAATATATAAATGTATA TATTATATATTATACATATATATTATATACATATATTATATATAATATAT ATTTTATATATTATATATGTATATATGTAATATATATAACCTTCACATTT ATTTCAGTTATATAATGTGAAGGTAATATATATATGTTATTTTGTGTATA TATAAAGTATTATATATAATG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18959.hp2 NA18961.hp2 others(5): Show NA18943.hp2 NA18959.hp2 NA18961.hp2 NA18977.hp1 NA18998.hp2 NA19057.hp1 NA19079.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0289 others(5): Show a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0289 a0001c0002t0001g0296 a0001c0002t0001g0305 a0001c0002t0001g0311 a0001c0002t0001g0315 a0002c0003t0001g0155	8	330	0.0242	420	c.210 others(439): Show c.2107+1819_2107+1820insATATTGTTATTTATTATATATTATAA TATATTATATATTATAATATATATTATATATTATATATTATAATATATTA TATATTATAATATATATTATATATTATATATTATAATATATATACCTGAT ATATTTAAGGTATTATATATAATACCTTATATATTATATATATAATACCT TATAAGGTATTATATATAATATTATATATTATATATAATATATATATTAT ATATAATATATAAATGTATATATTATATATTATACATATATATTATATAC ATATATTATATATAATATATATTTTATATATTATATATGTATATATGTAA TATATATAACCTTCACATTTATTTCAGTTATATAATGTGAAGGTAATATA TATATGTTATTTTGTGTATATATAAAGTATTATATATAATGTAT		MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	15/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
MSH4_chr1_75791882_75918242	75906518	T T	TTGTATAT others(413): Show TTGTATATATTATATATAATATATACAATATTGTATATATTATATATAAT ATATACAATATTGTATATATTATATATAATATATACAATATTGTATATAT TATATATAATATATACAATATTTATATATATTATATATATTATATATAAT ATATACATATTATATATTATATATAATATATACATATTATATATTATATA TAATATATATACATATTATATATTATATATATAATATATATACATATTAT ATATTATATATAATATATATACATATTATATATTATATATATAATATATA TACATATTATATATTATATATAATATATATACATATTATATATAATATAT ATACATATTATATTATATATAATATATATACATATTATATATAATATATA ATATATTACATATTATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	38	0.0263	420	c.262 others(439): Show c.2620-6178_2620-6177insTGTATATATTATATATAATATATACA ATATTGTATATATTATATATAATATATACAATATTGTATATATTATATAT AATATATACAATATTGTATATATTATATATAATATATACAATATTTATAT ATATTATATATATTATATATAATATATACATATTATATATTATATATAAT ATATACATATTATATATTATATATAATATATATACATATTATATATTATA TATATAATATATATACATATTATATATTATATATAATATATATACATATT ATATATTATATATATAATATATATACATATTATATATTATATATAATATA TATACATATTATATATAATATATATACATATTATATTATATATAATATAT ATACATATTATATATAATATATAATATATTACATATTATATATA		MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19						chr1	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(413): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATATAAATATATATATAAATATATATTTA GCTATATTTATATCAGATAAAATGGATTAAAAGTCAAAAACTGTAAAATG AGACAAAGAAGGCCATTATATAACGATAAAGCAGTCAATTCTTCAAGAAC ATATAACTACTGTAAATATATATATTATATATATATAAAACCAAAACCAG AAGACCTAATTATATATATATATTTAGGTCCTCTGGTTTTGGTTTTTTAT ATATATATATATATATATTTAGGTCTTCTGGTTTTGGTTTTATATATATA TTTATATAAATATAAATATATAAATATATATAATTATATATATATTTAGG TCCTCTGGTTTTGGTTATATG	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	8	0.1250	420	c.293 others(439): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATATAAATATATATATAAATATATATTTAGCTATATTTA TATCAGATAAAATGGATTAAAAGTCAAAAACTGTAAAATGAGACAAAGAA GGCCATTATATAACGATAAAGCAGTCAATTCTTCAAGAACATATAACTAC TGTAAATATATATATTATATATATATAAAACCAAAACCAGAAGACCTAAT TATATATATATATTTAGGTCCTCTGGTTTTGGTTTTTTATATATATATAT ATATATATTTAGGTCTTCTGGTTTTGGTTTTATATATATATTTATATAAA TATAAATATATAAATATATATAATTATATATATATTTAGGTCCTCTGGTT TTGGTTATATGTATATATATATATTTAGGTCCTCTGGTTTTGGT		MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr12	TogoVar
MUC4_chr3_195741771_195816929	195767802	T T	TCACCACC others(413): Show TCACCACCATCACCACCACCATCGCCACCACCACCACCACCACCATCACC ATCACCACCATCACTGCCACCCCCAACACTACCACCATCGCCACCACCAC CATCACCACCACCACCACCATCACCATCACCATCACCATCACCATCACCA CCACCACCACCACTACCACCACCATCACCATCACCACCACCATCACCATC ACCACCACCATCACCATCACCACCACCATCGCCACCACCATCATCACCAT CACCATTACCATTGCCACCACCATCACCACCACCATCACCACCACCACCA TCATCACCATTGCCACCACCATCACCACCATCACCACCACCATCGCCACC ACCACCACCACCACCATCACCATCACCACCATCACTGCCACCCCCAACAC TACCACCATCGCCACCACCAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0125 a0002c0125	a0002c0125t0002 a0002c0125t0002	a0002c0125t0002g0155 a0002c0125t0002g0155	1	105	0.0095	420	c.135 others(441): Show c.13530-1052_13530-1051insGTGGTGGTGGCGATGGTGGTAGTG TTGGGGGTGGCAGTGATGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGT GGCGATGGTGGTGGTGATGGTGGTGATGGTGGTGGCAATGGTGATGATGG TGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGCAATGGTAATGGTGATG GTGATGATGGTGGTGGCGATGGTGGTGGTGATGGTGATGGTGGTGGTGAT GGTGATGGTGGTGGTGATGGTGATGGTGGTGGTAGTGGTGGTGGTGGTGG TGATGGTGATGGTGATGGTGATGGTGATGGTGGTGGTGGTGGTGATGGTG GTGGTGGCGATGGTGGTAGTGTTGGGGGTGGCAGTGATGGTGGTGATGGT GATGGTGGTGGTGGTGGTGGTGGCGATGGTGGTGGTGATGGTGGTG		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	7/24						chr3	TogoVar
MYT1L_chr2_1784113_2336275	2034606	C C	CAACAATC others(413): Show CAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCT CCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTT CTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAAC TTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTA ACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTC CTAACTTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGC TCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAG AGCTCCTAACTTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAG AGAGCTCCTAACTTCTCCCCA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG06807.hp2 HG02922.hp1 HG06807.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0074 a0001c0005t0010g0095 a0001c0005t0010g0074 a0001c0005t0010g0095	2	99	0.0202	420	c.-15 others(441): Show c.-158+19371_-158+19372insTGGGGAGAAGTTAGGAGCTCTCTT CTGCACCCGCATTGGAGGGTGGAGATTGTGGGGAGAAGTTAGGAGCTCTC TTCTGCACCCGCATTGGAGGGTGGAGATTGTTGGGGAGAAGTTAGGAGCT CTCTTCTGCACCCGCATTGGAGGGTGGAGATTGTGGGGAGAAGTTAGGAG CTCTCTTCTGCACCCGCATTGGAGGGTGGAGATTGTTGGGGAGAAGTTAG GAGCTCTCTTCTGCACCCGCATTGGAGGGTGGAGATTGTGGGGAGAAGTT AGGAGCTCTCTTCTGCACCCGCATTGGAGGGTGGAGATTGTGGGGAGAAG TTAGGAGCTCTCTTCTGCACCCGCATTGGAGGGTGGAGATTGTGGGGAGA AGTTAGGAGCTCTCTTCTGCACCCGCATTGGAGGGTGGAGATTGTT		MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24						chr2	TogoVar
NCAPG2_chr7_158626169_158709804	158648819	C C	CAACCACG others(413): Show CAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCAGGCC AAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTA CAACCACGGCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCC AAATGGACTATAACCACGCCAAATGGACTATAACCACGCCAAATGGACTA TAACCACGCCAAATGGACTATAACCACGCCAAATGGACTATAACCACGGC AAATGGACTATAACCACGCCAAATGGACTACAATCACGCCAAATGGACTA CAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACGGC AAATGGACTATAACCACGCCAAATGGACTACAACCACGGCAAATGGACTA CAACCACGCCAAATGGACTAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	215	0.0047	420	c.307 others(439): Show c.3075+2012_3075+2013insATAGTCCATTTGGCGTGGTTGTAGTC CATTTGCCGTGGTTGTAGTCCATTTGGCGTGGTTATAGTCCATTTGCCGT GGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTC CATTTGGCGTGATTGTAGTCCATTTGGCGTGGTTATAGTCCATTTGCCGT GGTTATAGTCCATTTGGCGTGGTTATAGTCCATTTGGCGTGGTTATAGTC CATTTGGCGTGGTTATAGTCCATTTGGCGTGGTTATAGTCCATTTGGCGT GGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGCCGTGGTTGTAGTC CATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCCT GGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTT		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	24/27						chr7	TogoVar

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