Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CAMSAP2_chr1_200733893_200865704	200816899	C C	CACACACG others(375): Show CACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACA CACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACA CACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACA CGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACG CGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCG CGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCG TGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTG TATGTGTGTACACACACGCGCGTGTATGTGTGT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	326	0.0031	382	c.645 others(399): Show c.645+1261_645+1262insGCGCGTGTATGTGTGTACACACACGCGC GTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGT GTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGT ATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTAT GTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGT GTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGT GTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGT ACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTAC ACAC	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CARD14_chr17_80165030_80214331	80193341	C C	CCAGGGGA others(375): Show CCAGGGGACCCGATTCAACCTGGCACAGACAGTCCCCAGACATGAGTTTC CAGGGGATTCAACCTGGCACAGACAGTCCCCAGACATGAGTTTCCAGGGG ACCTGATTCGACCTGGCACAGACAGTCCCCAGACATGAGTTTCCAGGGGA CCCGATTCAACCTGGCACAGACAGTCCCCAGACATGAGTTTCCAGGGGAT TCAACCTGGCACAGACAGTCCCCAGACATGAGTTTCCAGGGGACCTGATT CGACCTGGCACAGACAGTCCCCAGACATGAGTTTCCAGGGGACCCGATTC GACCTGGCACAGACAGTCCCCAGACATGAGTTTCCAGGGGACCCGATTCA ACCTGGCACAGATAGTCCCCAGACATGAGTTTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03579.hp1 HG02717.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0022 a0001c0001t0004 a0001c0001t0022	a0001c0001t0004g0229 a0001c0001t0022g0041 a0001c0001t0004g0229 a0001c0001t0022g0041	2	340	0.0059	382	c.135 others(399): Show c.1356+737_1356+738insAACCTGGCACAGACAGTCCCCAGACATG AGTTTCCAGGGGATTCAACCTGGCACAGACAGTCCCCAGACATGAGTTTC CAGGGGACCTGATTCGACCTGGCACAGACAGTCCCCAGACATGAGTTTCC AGGGGACCCGATTCAACCTGGCACAGACAGTCCCCAGACATGAGTTTCCA GGGGATTCAACCTGGCACAGACAGTCCCCAGACATGAGTTTCCAGGGGAC CTGATTCGACCTGGCACAGACAGTCCCCAGACATGAGTTTCCAGGGGACC CGATTCGACCTGGCACAGACAGTCCCCAGACATGAGTTTCCAGGGGACCC GATTCAACCTGGCACAGATAGTCCCCAGACATGAGTTTGCAGGGGACCCG ATTC	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGGAGAGG others(375): Show GGGAGAGGGAGAGGAGAGGGAGACGGGAGAGGGAGAGGGAGAGGGAGACG GGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGG GGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGG CGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0156 a0001c0001t0003g0156	1	220	0.0045	382	c.803 others(397): Show c.803-119_803-118insAGAGGGAGAGGAGAGGGAGACGGGAGAGGG AGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGAGACGGGGA GAGGGAGAGGGAGACGGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAG GGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGGCGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAG AGGGAGACGGGGAGAGGGAGAGGGAGACGAGAGGGAGAGGGAGAGGGAGA GG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGGAGAGG others(375): Show GGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGGAGAGGGA GAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGGAG GGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGA GAGGGAGACGGGGAGAGGAGAGGGAGACGGGGAGGAGGGGAGAGGGAGAC GGGGAGACGGGGAAGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAG GCGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGGAGACGGGGAGA GGAGAGGGAGACGAGAGGGAGAGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0151	1	220	0.0045	382	c.803 others(397): Show c.803-119_803-118insAGAGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGACGGGGAGAGGGAGAGGAGAGGGAGACGGGAGAGGGAGAG GGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGA GAGGGAGACGGGAGGAGGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAG GGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGAGAGGGAGACGGGGA GGAGGGGAGAGGGAGACGGGGAGACGGGGAAGGAGAGGGAGAGGGAGACG GGGAGAGGGAGAGGGAGGCGGGGAGAGGGAGAGGGAGACGGGGAGAGGGA GAGGGGAGACGGGGAGAGGAGAGGGAGACGAGAGGGAGAGGAGAGGGAGA GG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(375): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TATACACAAGTGTGTATATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG TATACGCATACACACACATATATGTGTGTGTATACGCATACACACACATA TGTGTGTGTGTACGCATACACACATATATGTGTGTGTATACGCATACACA CATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0001 a0001c0001t0024g0001	1	29	0.0345	382	c.27 others(393): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATATACACAAGTGTGTATATACGCATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATAC GCATACACACACATATGTGTGTGTGTACGCATACACACATATATGTGTGT GTATACGCATACACACATATATGTGTGTGTATACGCATACACACATATAT GTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CENPJ_chr13_24877279_24927861	24881946	A A	ATAGATAC others(375): Show ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCTATATAGAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATAGATATATAGATACATCTATATAGATATATAGATACATCTAT ATAGATATATAGATACATCTATATAGATATATAGATACATCTATATAGAT ATATAGATACATCTATATAGATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0004 a0004c0006t0004	a0004c0006t0004g0005 a0004c0006t0004g0005	2	397	0.0050	382	c.12 others(393): Show c.1230_*1231insGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATCTATATAGATGTATCTATATA TCTATATAGATGTATCTATATATCTATATAGATGTATCTATATATCTATA TAGATGTATCTATATATCTATATAGATGTATCTATATATCTATATAGATG TATCTATATATAGATGTATCTATATATAGATGTATCTCTATATAGATGTA TCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATC TATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTA TATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		332		chr13	TogoVar
CEP72_chr5_607340_658553	650586	G G	GTGAGGCG others(375): Show GTGAGGCGTGGACTGTGAGGCGTGACTGAGGCGTGACTGTGAGGCGTGAC TGTGAGGCGTGGACTGTGAGGCGTGACTGTGAGGCGTGACTGTGAGGTGT GCCTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGGGTGACTGTGAG GTGTGACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGA GGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGGACTGTGAGGTGTGACT GTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTG GACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGG CGTGGACTGTGAGGTGTGACTGTGAGGTGTGAC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	81	0.0123	382	c.177 others(401): Show c.1779-2400_1779-2399insAGGCGTGGACTGTGAGGCGTGACTGA GGCGTGACTGTGAGGCGTGACTGTGAGGCGTGGACTGTGAGGCGTGACTG TGAGGCGTGACTGTGAGGTGTGCCTGTGAGGCGTGGACTGTGAGGCGTGG ACTGTGAGGGGTGACTGTGAGGTGTGACTGAGGTGTGACTGTGAGGCGTG GACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGG TGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGT GAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGA CTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTG TGACTG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	650586	G G	GTGAGGCG others(375): Show GTGAGGCGTGGACTGTGAGGCGTGACTGAGGCGTGACTGTGAGGCGTGAC TGTGAGGCGTGGACTGTGAGGCGTGACTGTGAGGCGTGACTGTGAGGTGT GCCTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGGGTGACTGTGAG GTGTGACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGA GGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGGACTGTGAGGTGTGACT GTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTG GACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGTGGTGTGACTGTGAGG CGTGGACTGTGAGGTGTGACTGTGAGGTGTGAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp1 HG01192.hp1 others(5): Show HG01069.hp1 HG01070.hp1 HG01192.hp1 HG01257.hp2 HG01517.hp1 HG03834.hp1 NA18999.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0028	8	88	0.0909	382	c.177 others(401): Show c.1779-2400_1779-2399insAGGCGTGGACTGTGAGGCGTGACTGA GGCGTGACTGTGAGGCGTGACTGTGAGGCGTGGACTGTGAGGCGTGACTG TGAGGCGTGACTGTGAGGTGTGCCTGTGAGGCGTGGACTGTGAGGCGTGG ACTGTGAGGGGTGACTGTGAGGTGTGACTGAGGTGTGACTGTGAGGCGTG GACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGG TGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGT GAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGA CTGTGTGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTG TGACTG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CIP2A_chr3_108544864_108594438	108575620	G G	GTATATAC others(375): Show GTATATACACGTGTATATATACTCATATACATGTGTATATACACGTGTAT ATATACTCATATACATGTGTATATACACGTGTATATATACTCATATACAT GTGTATATACACGTGTATATATACTCATATACATGTGTATATACACGTGT ATATATACTCATATACATGAGTATATACACGTGTATATATACTCATATAC ATGAGTATATATACACGTGTATATATACTCATATACATGAGTATATATAC ACGTGTATATATACTCATATACATGAGTATATACACGTGTATATATACTC ATATACATGAGTATATATACACGTGTATATATACTCATATACATGAGTAT ATATACACGTGTATATACTCATATACATGAGTA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0299 a0001c0003t0003g0299	1	370	0.0027	382	c.894 others(397): Show c.894+650_894+651insTACTCATGTATATGAGTATATACACGTGTA TATATACTCATGTATATGAGTATATATACACGTGTATATATACTCATGTA TATGAGTATATATACACGTGTATATACTCATGTATATGAGTATATATACA CGTGTATATATACTCATGTATATGAGTATATATACACGTGTATATATACT CATGTATATGAGTATATATACACGTGTATATACTCATGTATATGAGTATA TATACACGTGTATATACACATGTATATGAGTATATATACACGTGTATATA CACATGTATATGAGTATATATACACGTGTATATACACATGTATATGAGTA TATATACACGTGTATATACACATGTATATGAGTATATATACACGTGTATA TA	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CNOT1_chr16_58514951_58634826	58586381	G G	GGGCAGGG others(375): Show GGGCAGGGGGAGGGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAA GGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAG GGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAG GGAAGGGCAGGGGAGGGGGAGGGGGACTGGAGGGGAGGGGACGGGAGGGG GGAGGGGGAGGGGAGGGGGACTGGAGGGGAGGGGAGGGGAAGGGGAAGGG AAGGGGAGGGGAAGGGGATGGGAGGGGAAGGGGAGGAGAGGGAGAGGGGA AGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGAAGGGGAGGGAAGG GGAGGGAAGGGAAGGGAAGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03017.hp1 HG03490.hp2 others(7): Show HG02683.hp1 HG03017.hp1 HG03490.hp2 HG03654.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0013 a0001c0001 a0004c0013	a0001c0001t0001 a0001c0001t0009 a0004c0013t0001 a0001c0001t0001 a0001c0001t0009 a0004c0013t0001	a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0155 others(7): Show a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0009g0167 a0004c0013t0001g0143	10	303	0.0330	382	c.637 others(397): Show c.637+163_637+164insTCCCCTCCCCTCCCCTTCCCTTCCCTTCCC TCCCCTTCCCTCCCCTTCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCC CCTTCCCCTCTCCCTCTCCTCCCCTTCCCCTCCCATCCCCTTCCCCTCCC CTTCCCTTCCCCTTCCCCTCCCCTCCCCTCCAGTCCCCCTCCCCTCCCCC TCCCCCCTCCCGTCCCCTCCCCTCCAGTCCCCCTCCCCCTCCCCTGCCCT TCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTT CCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTC CCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCCTG CC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
COL19A1_chr6_69861556_70217468	69920971	T T	TATATATG others(375): Show TATATATGATATATATCATATATACATATGATATATACATGATATATATG ATATATATGATACATATGATATATATGATATATATGATACATATGATATA TATGATATATATATGATACAAATGATATATATGATATATATGATATATAT CAGATATATATATCATATATATCATATATATCATTTGTATCATATATATA TCATATATATCATATGTATCATATATATCATGTATATATCATATATATCA TATATATCATATATGTATTCATATATATCATATATATTCATATATAATAT ATATTCATATATCATATATATTCATATATATCATATATATTCATATATAT ATCATATATATTCATATATATCATATATATATC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0004 a0002c0009t0004	a0002c0009t0004g0176 a0002c0009t0004g0176	1	129	0.0078	382	c.267 others(399): Show c.267-6936_267-6935insATATGATATATATCATATATACATATGA TATATACATGATATATATGATATATATGATACATATGATATATATGATAT ATATGATACATATGATATATATGATATATATATGATACAAATGATATATA TGATATATATGATATATATCAGATATATATATCATATATATCATATATAT CATTTGTATCATATATATATCATATATATCATATGTATCATATATATCAT GTATATATCATATATATCATATATATCATATATGTATTCATATATATCAT ATATATTCATATATAATATATATTCATATATCATATATATTCATATATAT CATATATATTCATATATATATCATATATATTCATATATATCATATATATA TCAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL4A1_chr13_110143963_110312157	110201319	G G	GGGAGGAG others(375): Show GGGAGGAGGAAGAGAAGGAGGGGGAGGAGGAAGAGAAGGAGGGGGAGGAG GAAGAGAAGGAGGGGGAGGAGGAAGAGAAGGAGGGGGAGGAGGAAGAGAA GGAGGGGGAGGAGGAAGAGAAGGAGGGGGAGGAGGAAGAGAAGGAGGGGG AGGAGGAAGAGAAGGAGGGGGAGGAGGAAGAGAAGGAGGGGGAGGAGGAA GAGAAGGAGGGGGAGGAGGAAGAGAAGGAGGGGGAGGAGGAAGAGAAGGA GGGGGAGGAGGAAGAGAAGGAGGGGGAGGAGGAAGAGAAGGAGGGGGAGG AGGAAGAGAAGGAGGGGGAGGAGGAAGAGAAGGAGGGGGAGGAGGAAGAG AAGGAGGGGGAGGAGGAAGGAAGAGGAGGAACA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02970.hp1 NA19043.hp1 HG02723.hp2 HG02970.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0015 a0001c0006 a0002c0015	a0001c0006t0001 a0002c0015t0001 a0001c0006t0001 a0002c0015t0001	a0001c0006t0001g0010 a0002c0015t0001g0197 a0002c0015t0001g0239 a0001c0006t0001g0010 a0002c0015t0001g0197 a0002c0015t0001g0239	3	337	0.0089	382	c.108 others(399): Show c.1084+118_1084+119insTGTTCCTCCTCTTCCTTCCTCCTCCCCC TCCTTCTCTTCCTCCTCCCCCTCCTTCTCTTCCTCCTCCCCCTCCTTCTC TTCCTCCTCCCCCTCCTTCTCTTCCTCCTCCCCCTCCTTCTCTTCCTCCT CCCCCTCCTTCTCTTCCTCCTCCCCCTCCTTCTCTTCCTCCTCCCCCTCC TTCTCTTCCTCCTCCCCCTCCTTCTCTTCCTCCTCCCCCTCCTTCTCTTC CTCCTCCCCCTCCTTCTCTTCCTCCTCCCCCTCCTTCTCTTCCTCCTCCC CCTCCTTCTCTTCCTCCTCCCCCTCCTTCTCTTCCTCCTCCCCCTCCTTC TCTTCCTCCTCCCCCTCCTTCTCTTCCTCCTCCCCCTCCTTCTCTTCCTC CTCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	19/51			chr13	TogoVar
COL5A1_chr9_134636803_134849843	134729825	C C	CGGGTGTG others(375): Show CGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATG CGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTG TGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTTTGAG CGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTG TGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTG AGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCG TGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTG TGAGCGTGTGTGAGCGTGTGTGCATGCGGGCAG	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA21309.hp1 HG04199.hp2 NA21309.hp1	a0001 a0014 a0001 a0014	a0001c0015 a0014c0053 a0001c0015 a0014c0053	a0001c0015t0052 a0014c0053t0029 a0001c0015t0052 a0014c0053t0029	a0001c0015t0052g0016 a0014c0053t0029g0134 a0001c0015t0052g0016 a0014c0053t0029g0134	2	184	0.0109	382	c.925 others(397): Show c.925-376_925-375insAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGG TGTGCATGAGCCTGTGTGTGTGAGCGTGTTTGAGCGTGTGTGCATGCGGG CACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCAGGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A3_chr19_9954561_10015504	9970118	G G	GTGTTCTG others(375): Show GTGTTCTGTGGCTGAGTGGGGTCTGTGGGGTAAGCGGGGTCTGTGGGGTG AGTGGGGTCTGTGGGGTGAGTGGGGGCTGTGGGGTGAGTGGGGTCTGTGG GGTAAGCGGGGGCTGTGGGGTGAGTGGGGTCTGTGGGGTGAGTGGGGGCT GTAAGGTGAGTGGGGTCTGTGGGGTGAGTGGGGTCTGTGGGGTGAGTGGG GTCTGTGGGTGAGTGGGGTCTGTGGGGTGAGTGGGGTCTGTGGGGTGAGT GGGGTCTGTAGGTGAGTGGGGCCTGTGGGGTGAATGAGGTCTGGGTGAGT GGGGTCTGTGGGTGACTGAGGTCTGTGGGTGAGTGGGATCTGTGGGGTGA GTGAGGTCTGTGGGTGAATGGGAGCTGTGAAGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp1 HG02615.hp2 others(4): Show HG01891.hp1 HG02280.hp1 HG02615.hp2 HG02717.hp2 HG02886.hp2 HG02896.hp2 NA20300.hp1	a0007 a0015 a0033 a0007 a0015 a0033	a0007c0022 a0015c0064 a0033c0131 a0007c0022 a0015c0064 a0033c0131	a0007c0022t0007 a0007c0022t0011 a0015c0064t0001 others(1): Show a0007c0022t0007 a0007c0022t0011 a0015c0064t0001 a0033c0131t0001	a0007c0022t0007g0001 a0007c0022t0007g0187 a0007c0022t0007g0188 others(3): Show a0007c0022t0007g0001 a0007c0022t0007g0187 a0007c0022t0007g0188 a0007c0022t0011g0184 a0015c0064t0001g0203 a0033c0131t0001g0190	7	410	0.0171	382	c.393 others(399): Show c.3937-197_3937-196insACTTCACAGCTCCCATTCACCCACAGAC CTCACTCACCCCACAGATCCCACTCACCCACAGACCTCAGTCACCCACAG ACCCCACTCACCCAGACCTCATTCACCCCACAGGCCCCACTCACCTACAG ACCCCACTCACCCCACAGACCCCACTCACCCCACAGACCCCACTCACCCA CAGACCCCACTCACCCCACAGACCCCACTCACCCCACAGACCCCACTCAC CTTACAGCCCCCACTCACCCCACAGACCCCACTCACCCCACAGCCCCCGC TTACCCCACAGACCCCACTCACCCCACAGCCCCCACTCACCCCACAGACC CCACTCACCCCACAGACCCCGCTTACCCCACAGACCCCACTCAGCCACAG AACA	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
COMMD9_chr11_36267292_36294424	36287440	T T	TACATACT others(375): Show TACATACTATGTATATCATATAGTATGTATACTACATACTATGTATATCA TATAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTACA TACTATGTATATCATATAGTATGTATACTACATACTATGTATATCATATA GTATGTATACTACATACTATGTATATCATATAGTATGTATACTACATACT ATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAGTAT GTATACTACATACTATGTATATCATATAGTATGTATACTACATACTATGT ATATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGTAT ACTACATACTATGTATATCATATAGTATGTATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02965.hp1 NA20300.hp1 HG02559.hp2 HG02965.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	3	421	0.0071	382	c.51+ others(397): Show c.51+1921_51+1922insTATACATACTATATGATATACATAGTATGT AGTATACATACTATATGATATACATAGTATGTAGTATACATACTATATGA TATACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAGTA TACATACTATATGATATACATAGTATGTAGTATACATACTATATGATATA CATAGTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACA TACTATATGATATACATAGTATGTAGTATACATACTATATGATATACATA GTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATACT ATATGATATACATAGTATGTAGTATACATACTATATGATATACATAGTAT GT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
CROCC2_chr2_240901336_240998311	240923627	G G	GTCCCCAC others(375): Show GTCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACC CAGTCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAA CCCAGTCCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCCACACT GACCCGGCCCCCCACACTGACCCGGCCCCCACACTAACCCGGCCCCCCAC ACTGACCCGGCCCCCACACTAACCCAGCCCCCACACTGACCCAGCCCCCA CACTGACCCGGCCCCCACACTAACCCAGCCCCCCACACTAACCCAGTCCC CACACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAACCCAGCC CCCACACTGACCCAGCCCCCACACTAACCCAGC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	295	0.0034	382	c.488 others(397): Show c.488+982_488+983insTCCCCACACTAACCCAGCCCCCACACTAAC CCGGCCCCCCACACTAACCCAGTCCCCCACACTAACCCAGTCCCCACACT AACCCAGTCCCCACACTAACCCAGTCCCCCACACTAACCCGGCCCCCACA CTGACCCGGCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCCCCA CACTAACCCGGCCCCCCACACTGACCCGGCCCCCACACTAACCCAGCCCC CACACTGACCCAGCCCCCACACTGACCCGGCCCCCACACTAACCCAGCCC CCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACCCAG CCCCCACACTAACCCAGCCCCCACACTGACCCAGCCCCCACACTAACCCA GC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924394	T T	TCCCCACA others(375): Show TCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACCCG GCCCCTCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTGAC CCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTA ATCCGGCCCCCACACTAACCCGGCCCCTCACACTAACCCGGCCCCCCACA CTAACCCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCGGCCCCCA CACTAACCCAGCCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCC ACACTAATCCGGCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCC CCACACTAACCCGGCCCCCACACTGACCCGGCC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0204 a0007c0007t0001g0204	1	199	0.0050	382	c.489 others(399): Show c.489-1302_489-1301insTCCGGCCCCCACACTAACCCGGCCCCTC ACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTGACCCGGCCC CCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAATCCGGC CCCCACACTAACCCGGCCCCTCACACTAACCCGGCCCCCCACACTAACCC AGCCCCCACACTGACCCGGCCCCCCACACTAACCCGGCCCCCACACTAAC CCAGCCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTAA TCCGGCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCCCCACACT AACCCGGCCCCCACACTGACCCGGCCCCCCACACTAACCCGGCCCCCACA CTAA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRTC3_chr15_90524923_90650345	90647263	C C	CCCTCCTC others(375): Show CCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTC CACACCCCTCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCC TCCTCCACACCCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAAT CCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCC TCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCT CCTCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCC CTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCA CACCCCTCCTCCTCAATCCTCCTCCACACCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0034 a0003c0003t0034	a0003c0003t0034g0031 a0003c0003t0034g0031	1	254	0.0039	382	c.51 others(393): Show c.5123_*5124insCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCC TCCACAATCCTCCTCCACACCCCTCCTCCTCCTCAATCCTCCTCCACACC CCTCCTCCTCAATCCTCCTCCACACCCCTCCTCAATCCTCCTCCACACCC CTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCT CCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTC CTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAA TCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTC CTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1919		chr15	TogoVar
DCDC2_chr6_24166755_24363059	24238178	G G	GAGGGAGG others(375): Show GAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAGGAA TGGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGG GGAGGGGGAGGGGAGTGGAAGGGTGAGGGGAGGGGGAGGGGAGTGGAAGG GGGAGGGGAGGGGAAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGG GAGGGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGGAGGGGAGGGGGAGG GGAAGGGGAGGGGGGAGGGGGAGGGGGAGGGGA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0120 a0002c0002t0003g0120	1	197	0.0051	382	c.923 others(401): Show c.923-33077_923-33076insTCCCCTCCCCCTCCCCCTCCCCCCTC CCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCTCCCCCTC CCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTTCCCCTC CCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCACCCTTCCACTCCCCTC CCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCT CCCTCCATTCCTTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTC CTCCCT	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DECR2_chr16_396885_417482	397703	G G	GGGGGGTG others(375): Show GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGT GGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	324	0.0031	382	c.-42 others(393): Show c.-4261_-4260insGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTTGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4181		chr16	TogoVar
DECR2_chr16_396885_417482	397709	T T	TGAGGGAG others(375): Show TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGTGGGG GGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGTGGGG GGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGAGTGGGGGTGGGGGTGGGGGGTGAGGG TTCGGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	307	0.0033	382	c.-42 others(393): Show c.-4255_-4254insGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGTGGGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGGTGGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGAGTGGGGGTGGG GGTGGGGGGTGAGGGTTCGGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4175		chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619557	T T	TCCCCTCC others(375): Show TCCCCTCCCTGCAGCTCCATGCCCCCCTGCTCCCCTCCCTGCAGCCCCCT GCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGC TCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCT GCCCCCCCTGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCC CTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCG CTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTGTCTGCAGCCCCC TGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	203	0.0049	382	c.-10 others(401): Show c.-107+5842_-107+5843insTCCCTGCAGCTCCATGCCCCCCTGCT CCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTG CCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCT CCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCC TGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCC TGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGC TCCCCTGTCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCT GCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EIPR1_chr2_3183970_3382818	3315172	C C	CCATCCCC others(375): Show CCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCA CACCCCCTACCACCACGATCACCACCATCCCCATCCACACCCCCTACCAC CACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACC ATCCCTATCCACACCCCCTACCACCATCCTCACCACCATCCCCATCCACA GCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACCA CCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCAT CCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACC CCCTACCACCATCACCACCATCCCCATCCACAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	144	0.0069	382	c.259 others(401): Show c.259+22844_259+22845insCTGTGGATGGGGATGGTGGTGATGGT GGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTG GATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTG GTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGG TAGGGGCTGTGGATGGGGATGGTGGTGAGGATGGTGGTAGGGGGTGTGGA TAGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATCGTGGTGGTA GGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATG GGGATG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EXD3_chr9_137301896_137428162	137355450	T T	TGGAGGAA others(375): Show TGGAGGAAGGAGAAAGGAGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAA GGAGAAAGGAGGAAGGAGGACGGAGGAAGGAGGATGGAGGAAGGAGGAAG GAGGACGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGGAGGAAG GAGGATGGAGGAAGGAGGACGGAGGAAGGAGGATGGAGGAAGGAGGAAGG AGGATGGAGGAAGGGAGGATGGAGGAAGGAGGATGGAGGAAGGAGGAAGG AGGAAGGAGGAAGGAGGAAGGGAGGAAGGAGGATGGAGGAAGGAGGAAGG AGGACGGAGGAAGGAGGAAGGAGGATGGAGGAAGGGAGGATGGAGGAAGG AGAAAGGAGGAAGGAGAAAGGAGGAAGGAGGAA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	66	0.0152	382	c.758 others(397): Show c.758-678_758-677insTTCCTCCTTCCTCCTTTCTCCTTCCTCCTT TCTCCTTCCTCCATCCTCCCTTCCTCCATCCTCCTTCCTCCTTCCTCCGT CCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCCTTCCTCCTTCCTCCTT CCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCATCCTCCCTTCCTCCAT CCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCGTCCTCCTTCCTCCATC CTCCTTCCTCCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCGTC CTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCGTCCTCCTTCCTCCTTTC TCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCTCCTTTCTCCTTCCT CC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
FLACC1_chr2_201283271_201362345	201284695	G G	GGGAGAGG others(375): Show GGGAGAGGGAGAGGAGAGGGAGACGGGAGAGGGAGAGGGAGAGGGAGACG GGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGG GGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGG CGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACGAGAGGGAGAGGGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0009 a0002c0002t0002g0009	1	224	0.0045	382	c.39 others(393): Show c.3959_*3960insTCTCCCTCTCCCTCTCCCTCTCGTCTCCCTCTCC CTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGC CTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCC CTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCT CCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCC CGTCTCCCTCTCCCTCTCCCCGTCTCCCGTCTCCCTCTCCCTCTCCCTCT CCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCC GTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCTCTCCCTCTCC	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding		3575		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805487	C C	CCCCCTCA others(375): Show CCCCCTCAACCCAGAGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACGTCTGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTC CCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGAGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACGTCTGCAGGCCAC CTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC TCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	310	0.0032	382	c.13 others(393): Show c.1321_*1322insCCCCTCAACCCAGAGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACGTCTGCAGGCCACCTTCCCTCCCCCTCA ACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCT CTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCC TCAACCCAGAGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACGTCTGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1201		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806818	G G	GACCTCCG others(375): Show GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	308	0.0032	382	c.26 others(393): Show c.2652_*2653insACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2532		chr2	TogoVar
GAS6_chr13_113815549_113869076	113816252	G G	GGGGAGAC others(375): Show GGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTC ACTGCTCAGGGACACGGGTTCTTTTCGGGGAGACAAGCGTGTTCGCAGCG TGTTCTGGATGGGGAGAGGTGCAGTCACTGCTCAGGGACACGGGTTCTTT TCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAG TCACTGGTCAGGGACACGGGTTCTTTTCGGGGAGACAAGCGTGTTCGCAG CGTGTTCTGGATGGGGAGAGGTGCAGTCACTGGTCAGGGACACGAGTTCT TTTCGGGGAGGCAAGCATGTTCTAAGCGTGTTCTGGATGGGGAGGGAGGT GCAGTCACTGGTCAGGGACATGGTTTCTTTTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0072 a0001c0008t0001g0072	1	104	0.0096	382	c.46 others(393): Show c.4611_*4612insTGAAAAGAAACCATGTCCCTGACCAGTGACTGCA CCTCCCTCCCCATCCAGAACACGCTTAGAACATGCTTGCCTCCCCGAAAA GAACTCGTGTCCCTGACCAGTGACTGCACCTCTCCCCATCCAGAACACGC TGCGAACACGCTTGTCTCCCCGAAAAGAACCCGTGTCCCTGACCAGTGAC TGCACCTCTCCCCATCCAGAACACGCTGCGAACACGCTTGTCTCCCCGAA AAGAACCCGTGTCCCTGAGCAGTGACTGCACCTCTCCCCATCCAGAACAC GCTGCGAACACGCTTGTCTCCCCGAAAAGAACCCGTGTCCCTGAGCAGTG ACTGCACCTCTCCCCATCCAGAACACGCTGCGAACACGCTTGTCTCCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding		4296		chr13	TogoVar
GLT6D1_chr9_135618648_135644540	135620196	T T	TCTCCCCC others(375): Show TCTCCCCCTTCTCCCCTTTTCCCCTACTCCCCTTCTCCCCTTCTCCCCCA TCTGCCCAGTATCCCCTTCTCCCCCTTCTCCCCCTTCTCCCCCTTCTCCC CAATCTCCCCCGTCTCCCCCTTCTCCCCTGTCTCCCCCATCTCCCCTTCT CCCCCTACTCCCCTTCTCCCCTTCTCCCCCTTCTCCCCCATCTGCCCAGT ATCCCCTTCTCCCCCTTCTTCCCCTACTCCCCCTACTCCCCCATCTCCCT CTTCTCCCCTATCTCCCCCTTCTCCCCCTACTCCCCTTCTCCCCCGTCTC CCTGTCTGCCCAGTCTCCCCCATCTCCCCCTACTCCCCCTTCTCCCCCTA CTCCTTCTCCCCCTTCTCCCCCTTCCCCCTCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0003 a0004c0009t0003	a0004c0009t0003g0185 a0004c0009t0003g0185	1	433	0.0023	382	c.39 others(393): Show c.3900_*3901insTAGAGGGGGAAGGGGGAGAAGGGGGAGAAGGAGT AGGGGGAGAAGGGGGAGTAGGGGGAGATGGGGGAGACTGGGCAGACAGGG AGACGGGGGAGAAGGGGAGTAGGGGGAGAAGGGGGAGATAGGGGAGAAGA GGGAGATGGGGGAGTAGGGGGAGTAGGGGAAGAAGGGGGAGAAGGGGATA CTGGGCAGATGGGGGAGAAGGGGGAGAAGGGGAGAAGGGGAGTAGGGGGA GAAGGGGAGATGGGGGAGACAGGGGAGAAGGGGGAGACGGGGGAGATTGG GGAGAAGGGGGAGAAGGGGGAGAAGGGGGAGAAGGGGATACTGGGCAGAT GGGGGAGAAGGGGAGAAGGGGAGTAGGGGAAAAGGGGAGAAGGGGGAG	GLT6D1	ENSG00000204007.8	transcript	ENST00000371763.6	protein_coding		3451		chr9	TogoVar
GPBP1_chr5_57169059_57269673	57249852	T T	TCCCTCTT others(375): Show TCCCTCTTCCCCTCCCCTCCTTCCCCTCCTCTCCTTCCCCCCTCCCCTCC TTCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCC ACCTCCTTCCGCCTCCCCCTACCCTTCCCCCCTCACCTTCCCCTCATTCC CCCCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCC TCTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCTTCCCCTCCTT CCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCC CCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTC CCCCTTCCCCCCCCCTCCTTCCCCCCTTCCCCC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	143	0.0070	382	c.972 others(397): Show c.972+276_972+277insCCCTCTTCCCCTCCCCTCCTTCCCCTCCTC TCCTTCCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTTCCCCTCCCCTCCT TCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCCCCTACCCTTCCCCC CTCACCTTCCCCTCATTCCCCCCTCCCCTTCCCCTCCTTCCCCTTCCCCA TCCTCCTCCTTCCCCATCCTCTCCTTCCCCCTCCCCCTTCCCCACCTTCC CCCTCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCTTCCCCCTCCCCACCT TCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCTCCTTCCCCTTTCCCC CTTCCCCCTCCCCTCCTTCCCCCTTCCCCCCCCCTCCTTCCCCCCTTCCC CC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11			chr5	TogoVar
GPR173_chrX_53043789_53085615	53074114	T T	TTATATAT others(375): Show TTATATATAAATATATATAAATATACATGTATATTTATTCATATATAAAT ATATATAAATATACATGTATATTTATTCATATATAAATATATGTAAATAT ACATGTATATTTATTCATATATAAATATATGTAAATATACATGTATATTT ATTCATATATAAATATATGTAAATATACATGTATATTTATTCATATATAA ATATATGTAAATATACATGTATATTTATTCATATATAAATATATGTAAAT ATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTATAT TTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATATAT AAATATATGTAAATATACATGTATATTTATTCA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	70	0.0143	382	c.-97 others(399): Show c.-97-2405_-97-2404insTAAATATATATAAATATACATGTATATT TATTCATATATAAATATATATAAATATACATGTATATTTATTCATATATA AATATATGTAAATATACATGTATATTTATTCATATATAAATATATGTAAA TATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTATA TTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATATA TAAATATATGTAAATATACATGTATATTTATTCATATATAAATATATGTA AATATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTA TATTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATA TATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR35_chr2_240620480_240638159	240626075	T T	TGGGGTGA others(375): Show TGGGGTGAGGCTGTGATGGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGG GGTCTCAGAGTGGGGTGAAGCTCTGATGGGGTCTCAGAGCGGGGCGAGGC TGTGAGGGGTTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTCAGAGCGG GGCGAGGCTGTGACGGGGTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCT CAGAGCGGGGTGAGGCTCTGACGGGGTCTCAGAGCGGGGTGAGGCTCTGA CGGGGTCTCAGAGCGGGGTGAGGCTGTGATGGGGGTCTCAGAGCGGGGTG AGGCTGTGATGGGGGTCTCAGAGCGGGGTGAGGCTGTGATGGGGGTCTCA GAGTGGGGTGAGGCTCTGACGGGGTCTCAGAGC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0067 a0003c0003t0001g0067	1	15	0.0667	382	c.-5+ others(395): Show c.-5+522_-5+523insTGGGGGTCTCAGAGTGGGGTGAGGCTGTGATG GGGGTCTCAGAGTGGGGTGAAGCTCTGATGGGGTCTCAGAGCGGGGCGAG GCTGTGAGGGGTTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTCAGAGC GGGGCGAGGCTGTGACGGGGTCTCAGAGCGGGGCGAGGCTGTGACGGGGT CTCAGAGCGGGGTGAGGCTCTGACGGGGTCTCAGAGCGGGGTGAGGCTCT GACGGGGTCTCAGAGCGGGGTGAGGCTGTGATGGGGGTCTCAGAGCGGGG TGAGGCTGTGATGGGGGTCTCAGAGCGGGGTGAGGCTGTGATGGGGGTCT CAGAGTGGGGTGAGGCTCTGACGGGGTCTCAGAGCGGGGTGAGGCTGTGA	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
KBTBD11_chr8_1968677_2011936	1969684	T T	TATACATA others(375): Show TATACATATATAAATATATGAATATATAAAATATATAAATATATAAATAT ATATAAATAAATATATAAATATATACAAATATATAAATAAATATATAAAT ATATAAATATAAATATATATTTATAGATATATAGATTTTATGTTTAAAAT ATATATTTATAGATTTTATATTTAAAAATATATTTTATATATTTTATACA TAAAATATAATATATAAAATATATAAATCATATAAAATTTATATTTTATG TATAAATATAAATGAATATAAAAATATATTATATGTTATATATTATATAT TATTATGTTATATATTATATATTATTATATTATATATATTATAATATGTA TTATATTATATATTATATAATATAAAATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	9	0.1111	382	c.-51 others(393): Show c.-5160_-5159insATACATATATAAATATATGAATATATAAAATATA TAAATATATAAATATATATAAATAAATATATAAATATATACAAATATATA AATAAATATATAAATATATAAATATAAATATATATTTATAGATATATAGA TTTTATGTTTAAAATATATATTTATAGATTTTATATTTAAAAATATATTT TATATATTTTATACATAAAATATAATATATAAAATATATAAATCATATAA AATTTATATTTTATGTATAAATATAAATGAATATAAAAATATATTATATG TTATATATTATATATTATTATGTTATATATTATATATTATTATATTATAT ATATTATAATATGTATTATATTATATATTATATAATATAAAATATAAA	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		3992		chr8	TogoVar
KCNH1_chr1_210673314_211139148	210718386	T T	TTAATGCA others(375): Show TTAATGCATAAATATATGCATATATTTAATGCATAAATATATGCATATAT TTAATACATAAATATATGCATATATTTAATATATGCATATATTTAATACA TAAATATATGCATATATTTAATATATGCATATATTTAATACATAAATATA TGCATATATTTAATATATGCATATATTTAATACATAAATATATGCATATA TTTAATACATAAATATATGCATATATTTAATACATAAATATATGCATATA TTTAATACATAAATATATGCATATATTTAATACATAAATATATGCATATA TTTATATATAAAATATATACATATATGTATATATATAAAATATATACATA TATGTATATATATAAAATATATACATATATGTA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	128	0.0078	382	c.211 others(403): Show c.2113-34249_2113-34248insTACATATATGTATATATTTTATAT ATATACATATATGTATATATTTTATATATATACATATATGTATATATTTT ATATATAAATATATGCATATATTTATGTATTAAATATATGCATATATTTA TGTATTAAATATATGCATATATTTATGTATTAAATATATGCATATATTTA TGTATTAAATATATGCATATATTTATGTATTAAATATATGCATATATTAA ATATATGCATATATTTATGTATTAAATATATGCATATATTAAATATATGC ATATATTTATGTATTAAATATATGCATATATTAAATATATGCATATATTT ATGTATTAAATATATGCATATATTTATGCATTAAATATATGCATATATTT ATGCATTA	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10			chr1	TogoVar
KCNIP4_chr4_20723606_21953772	21346215	T T	TTATATAT others(375): Show TTATATATAATTCTATATATATAATATATATTATATATATAATTCTATAT ATATAATATATATTATATATAATTCTATATATATAATATATATTATATAT ATAGAATTCTATATATATAATATATATTATATATATAATTCTATATATAT AATATATATTATATATAGAATTCTATATATATAATATATATTATATATAT AATTCTATATATATAATATATATTATATATAGAATTCTATATATATAATA TATATTATATATATAGAATTATATATATAATATATATTATATATATAGAA TTCTATATATAATATATATTATATATATAATTCTATATATAATATATATT ATATATATAATTCTATATATATAATATATATTA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0008 a0001c0002t0003g0008	1	4	0.2500	382	c.62- others(401): Show c.62-463507_62-463506insTAATATATATTATATATATAGAATTA TATATATAATATATATTATATATAGAATTATATATATAATATATATTATA TATAGAATTCTATATATATAATATATATTATATATATAATTCTATATATA TAATATATATTATATATATAGAATTCTATATATAATATATATTATATATA TAGAATTATATATATAATATATATTATATATATAGAATTCTATATATAAT ATATATTATATATATAGAATTATATATATAATATATATTATATATATAGA ATTCTATATATATAATATATATTATATATATAGAATTATATATAATATAT ATTATATATATAGAATTATATATATAATATATATTATATATATAGAATTA TATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNK10_chr14_88175108_88328269	88310155	C C	CATATACC others(375): Show CATATACCATATCATATGGTATATGATATACCATATCATATGGTATATCA TATACCATATCATATGGTATATGATATACCATATCATATGGTATATCATA TACCATATCATATGGTATATGATATACCATATCATATGGTATATGATATA CCATATCATATGGTATATCATATACCATATCATATGGTATATCATATACC ATATCATATGGTATATCATATACCATATCATATGGTATATCATATACCAT ATCATATGGTATATCATATACCATATCATATGGTATATCATATACCATAT CATATGGTATATCATATACCATATCATATGGTATATCATATACCATATCA TATGGTATATCATATACCATATCATATGGTATA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0191 a0001c0001t0007g0191	1	257	0.0039	382	c.52+ others(399): Show c.52+12591_52+12592insTATACCATATGATATGGTATATGATATA CCATATGATATGGTATATGATATACCATATGATATGGTATATGATATACC ATATGATATGGTATATGATATACCATATGATATGGTATATGATATACCAT ATGATATGGTATATGATATACCATATGATATGGTATATGATATACCATAT GATATGGTATATGATATACCATATGATATGGTATATGATATACCATATGA TATGGTATATCATATACCATATGATATGGTATATCATATACCATATGATA TGGTATATGATATACCATATGATATGGTATATCATATACCATATGATATG GTATATGATATACCATATGATATGGTATATCATATACCATATGATATGGT ATAT	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6			chr14	TogoVar
KCNMB2_chr3_178531436_178849429	178758039	T T	TACACAAG others(375): Show TACACAAGAGGATATATATATATACACACAAGAGGATATATATATGTACA CACAAGAGGATATATATATATATATATCCAAGAGGATATATATATATATA TATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATA TATATATATATATATCCAAGAGGATATATATATATATATATATATCCAAG AGGATATATATATATATATATATATCCAAGAGGATATATATATATATATA TATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATA TATATATATATATATCCAAGAGGATATATATATATATATATATATCCAAG AGGATATATATATATATATATATATCCAAGAGG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0179 a0001c0002t0001g0179	1	150	0.0067	382	c.-67 others(401): Show c.-67-49303_-67-49302insCACAAGAGGATATATATATATACACA CAAGAGGATATATATATGTACACACAAGAGGATATATATATATATATATC CAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATATA TATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATA TATATATATATATATATCCAAGAGGATATATATATATATATATATATCCA AGAGGATATATATATATATATATATATCCAAGAGGATATATATATATATA TATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATA TATATATATATATATATCCAAGAGGATATATATATATATATATATATCCA AGAGGA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNT2_chr1_196220779_196613440	196437080	T T	TATAAATA others(375): Show TATAAATATATATTTATATACATAAATATATTTATATATAAATATATATT TTTATATATATTTATGTATATATTTATATATAAATATATATTTATATATT TATATATATTTATATATATATACATAAATATATATTTATATATATTTATA TATATACATAAATATATATTTATATATAAATATATATTTATATATTTATA TATATTTATGTATATTTATATACATAAATATATATTTATATATATTTATA TATATTTATATACATAAATATATATTTATATATATTTATATACATAAATA TATATTTATATATATTTATATACATAAATATATATTTATATATATTTATA TACATAAATATATATTTATATATATTTATATAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18984.hp1 NA19009.hp2 HG03834.hp2 NA18984.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0028 a0001c0001t0002g0029 a0001c0001t0002g0116 a0001c0001t0001g0028 a0001c0001t0002g0029 a0001c0001t0002g0116	3	52	0.0577	382	c.639 others(399): Show c.639-7324_639-7323insGTATATAAATATATATAAATATATATTT ATGTATATAAATATATATAAATATATATTTATGTATATAAATATATATAA ATATATATTTATGTATATAAATATATATAAATATATATTTATGTATATAA ATATATATAAATATATATAAATATATATTTATGTATATAAATATACATAA ATATATATAAATATATAAATATATATTTATATATAAATATATATTTATGT ATATATATAAATATATATAAATATATATTTATGTATATATATATAAATAT ATATAAATATATAAATATATATTTATATATAAATATATACATAAATATAT ATAAAAATATATATTTATATATAAATATATTTATGTATATAAATATATAT TTAT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	8/27			chr1	TogoVar
LAT2_chr7_74205006_74234834	74214419	T T	TATATATA others(375): Show TATATATATATGAAAATATATATATAAATATATATATGAAAATATATATG AAAATATATATATGAAAATATATATGAAAATATATATATGAAAATATATA TGAAAATATATATATGAAAATATATATGAAAATATATATATGAAAATATA TATGAAAATATATATATAAATATATATATATGAATATATATAAATATATA TACGTGAAAATATATATATAAATATATATACGTGAAAATATATATATAAA TATATATACGAAAATATATATAAATATATATACGTGAAAATATATATATA TAAATATATATACGTGAAAATATATATAAATATATATACGTGAAAATATA TATAAATATATATACGTGAAAATATATATATAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	1	329	0.0030	382	c.-21 others(399): Show c.-218-355_-218-354insGAAAATATATATATGAAAATATATATGA AAATATATATATGAAAATATATATGAAAATATATATATGAAAATATATAT GAAAATATATATATGAAAATATATATGAAAATATATATATAAATATATAT ATATGAATATATATAAATATATATACGTGAAAATATATATATAAATATAT ATACGTGAAAATATATATATAAATATATATACGAAAATATATATAAATAT ATATACGTGAAAATATATATATATAAATATATATACGTGAAAATATATAT AAATATATATACGTGAAAATATATATAAATATATATACGTGAAAATATAT ATATAAATATATATATGAAAATATATATATAAATATATATATGAAAATAT ATAT	LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
LAT2_chr7_74205006_74234834	74214445	A A	AATATATA others(375): Show AATATATATATGAAAATATATATATAAATATATATATGAAAATATATATG AAAATATATATATGAAAATATATATGAAAATATATATATGAAAATATATA TGAAAATATATATATGAAAATATATATGAAAATATATATATAAATATATA TATGAATATATATAAATATATATACGTGAAAATATATATATAAATATATA TACGTGAAAATATATATATAAATATATATACGAAAATATATATAAATATA TATACGTGAAAATATATATATATAAATATATATACGTGAAAATATATATA AATATATATACGTGAAAATATATATATAAATATATATATGAAAATATATA TATAAATATATATATGAAAATATATATATAAAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	241	0.0041	382	c.-21 others(399): Show c.-218-341_-218-340insGAAAATATATATGAAAATATATATATGA AAATATATATGAAAATATATATATGAAAATATATATGAAAATATATATAT GAAAATATATATGAAAATATATATATAAATATATATATGAATATATATAA ATATATATACGTGAAAATATATATATAAATATATATACGTGAAAATATAT ATATAAATATATATACGAAAATATATATAAATATATATACGTGAAAATAT ATATATATAAATATATATACGTGAAAATATATATAAATATATATACGTGA AAATATATATATAAATATATATATGAAAATATATATATAAATATATATAT GAAAATATATATATAAATATATATATATGAAAATATATATATAAATATAT ATAT	LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
LCN15_chr9_136754634_136769518	136769342	C C	CCCCCGCC others(375): Show CCCCCGCCACCCCCCCATGCACTGCCCCCCCCGCCACCCCGCCACCCCTC CATGCACTGGCCCTCCCGCCACCCCGCCACCCCTCCATGCACTGCCCCCC GCCACCCCGCCACCCCCCCATGCACTGCCCCCCCCGCCACCCCCCCATGC ACTGCCCCCCCCGCCACCCCCCCATGCACTGCCCCCCCCGCCACCCCCCC ATGCACTGCCCCCCCCGCCACCCCCCCATGCACTGCCCCCCCCGCCACCC CCCCATGCACTGCCCCCCCCGCCACCCCCCCATGCACTGCCCCCCCCGCC ACCCCCCCATGCACTGCCCCCCCCGCCACCCCCCCATGCACTGCCCCCCC CGCCACCCCGCCACCCCTCCATGCACTGGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	328	0.0030	382	c.-48 others(393): Show c.-4855_-4854insAGGGCCAGTGCATGGAGGGGTGGCGGGGTGGCGG GGGGGGCAGTGCATGGGGGGGTGGCGGGGGGGGCAGTGCATGGGGGGGTG GCGGGGGGGGCAGTGCATGGGGGGGTGGCGGGGGGGGCAGTGCATGGGGG GGTGGCGGGGGGGGCAGTGCATGGGGGGGTGGCGGGGGGGGCAGTGCATG GGGGGGTGGCGGGGGGGGCAGTGCATGGGGGGGTGGCGGGGGGGGCAGTG CATGGGGGGGTGGCGGGGGGGGCAGTGCATGGGGGGGTGGCGGGGTGGCG GGGGGCAGTGCATGGAGGGGTGGCGGGGTGGCGGGAGGGCCAGTGCATGG AGGGGTGGCGGGGTGGCGGGGGGGGCAGTGCATGGGGGGGTGGCGGGG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4825		chr9	TogoVar
LOC102723971_chr9_135609183_135624893	135620196	T T	TCTCCCCC others(375): Show TCTCCCCCTTCTCCCCTTTTCCCCTACTCCCCTTCTCCCCTTCTCCCCCA TCTGCCCAGTATCCCCTTCTCCCCCTTCTCCCCCTTCTCCCCCTTCTCCC CAATCTCCCCCGTCTCCCCCTTCTCCCCTGTCTCCCCCATCTCCCCTTCT CCCCCTACTCCCCTTCTCCCCTTCTCCCCCTTCTCCCCCATCTGCCCAGT ATCCCCTTCTCCCCCTTCTTCCCCTACTCCCCCTACTCCCCCATCTCCCT CTTCTCCCCTATCTCCCCCTTCTCCCCCTACTCCCCTTCTCCCCCGTCTC CCTGTCTGCCCAGTCTCCCCCATCTCCCCCTACTCCCCCTTCTCCCCCTA CTCCTTCTCCCCCTTCTCCCCCTTCCCCCTCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0081 a0002c0002t0002g0081	1	447	0.0022	382	c.12 others(393): Show c.1244_*1245insCTCCCCCTTCTCCCCTTTTCCCCTACTCCCCTTC TCCCCTTCTCCCCCATCTGCCCAGTATCCCCTTCTCCCCCTTCTCCCCCT TCTCCCCCTTCTCCCCAATCTCCCCCGTCTCCCCCTTCTCCCCTGTCTCC CCCATCTCCCCTTCTCCCCCTACTCCCCTTCTCCCCTTCTCCCCCTTCTC CCCCATCTGCCCAGTATCCCCTTCTCCCCCTTCTTCCCCTACTCCCCCTA CTCCCCCATCTCCCTCTTCTCCCCTATCTCCCCCTTCTCCCCCTACTCCC CTTCTCCCCCGTCTCCCTGTCTGCCCAGTCTCCCCCATCTCCCCCTACTC CCCCTTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCCCTCTA	LOC102723971	ENSG00000236543.3	transcript	ENST00000430816.3	protein_coding		304		chr9	TogoVar
LTBP2_chr14_74493183_74617237	74564165	A A	ATATATAT others(375): Show ATATATATATATTTATATATATATTTATATATATATTTATATATATATAT TTATATATATATTTATATATATATATTTATATATATATTTATATATATAT ATTTATATATATATTTATATATATATTTATATATATATATTTATATATAT ATTTTTATATATATATTTATATATATATTTTTATATATATATTTATATAT ATATATTTATATATATTTATATATATATTTATATATATATTTATATATAT TTATATATATTTATATATATATTTATATATATATTTATATATATTTATAT ATATTTATATATATTTTTATATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0128 a0001c0003t0002g0128	1	251	0.0040	382	c.831 others(399): Show c.831-8473_831-8472insAATATATATAAATATATATAAATATATA TATAAATATATATAAATATATATATAAATATATATATAAAAATATATATA AATATATATAAATATATATAAATATATATATAAATATATATATAAATATA TATAAATATATATAAATATATATATAAATATATATATAAATATATATAAA TATATATATATAAATATATATATAAAAATATATATATAAATATATATATA AAAATATATATATAAATATATATATATAAATATATATATAAATATATATA TAAATATATATATATAAATATATATATAAATATATATATATAAATATATA TATAAATATATATATATAAATATATATATAAATATATATATAAATATATA TATA	LTBP2	ENSG00000119681.12	transcript	ENST00000261978.9	protein_coding	3/35			chr14	TogoVar
MAD1L1_chr7_1810795_2237945	1930522	T T	TGCCACGT others(375): Show TGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCCTCGCCCCGTC CCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCCTCGCC CCGTCCCCACTGCCACGTCCCCTCATCCCGTCCCCACTGCCACGTCCCCT CGCCCCGTCCCCACTGCCACAACCCCTCATCCCGTCCCCTACTGCCACAT CCCACCACCACGTCCACACTGCCACGTCCCCTCGCCCCATCCCCCACTGC CACGTCCCCTCATCCCGTCCCCACTGCCACAACCCCTCATCCCGTCCCCT ACTGCCACATCCCACCACCACGTCCACACTGCCATGTCCCCTCGCCCCAT CCCCCTGCCACGTCCGCTTACCCCATACCCACC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0215 a0002c0005t0001g0215	1	10	0.1000	382	c.180 others(401): Show c.1807+6164_1807+6165insGGTGGGTATGGGGTAAGCGGACGTGG CAGGGGGATGGGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGATG TGGCAGTAGGGGACGGGATGAGGGGTTGTGGCAGTGGGGACGGGATGAGG GGACGTGGCAGTGGGGGATGGGGCGAGGGGACGTGGCAGTGTGGACGTGG TGGTGGGATGTGGCAGTAGGGGACGGGATGAGGGGTTGTGGCAGTGGGGA CGGGGCGAGGGGACGTGGCAGTGGGGACGGGATGAGGGGACGTGGCAGTG GGGACGGGGCGAGGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGG CAGTGGGGACGGGGCGAGGGGGACGTGGCAGTGGGGACGGGGCGAGGGGA CGTGGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MALRD1_chr10_19043801_19739478	19238066	T T	TATAATTA others(375): Show TATAATTATATGTAATTTTATATGGTTATATATAATTATACGTAGTTTTA CATAGTTATATAGTTATAACTATATGTAGTTATATATAATTATAATTATA TATAATTTATATACTTATAAATATGTAATTATATATGTTATAATTATAAA TATATATAATATAAATATACAATACATTTTATATAATATATAATATATAG TATAATACAAAATATACATTATAATATATTATAATATATAATATATAATA CATATATTATATAAAAATACCATAATATATAATAATATATATTATAATAT ATATAATATATAATAATATATTATAATATATATTATAATATAGTATAATA TATATATTATAATTTATACTATATATAATATAA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02109.hp2 NA18522.hp2 HG01975.hp1 HG02109.hp2 NA18522.hp2	a0037 a0041 a0078 a0037 a0041 a0078	a0037c0062 a0041c0046 a0078c0114 a0037c0062 a0041c0046 a0078c0114	a0037c0062t0001 a0041c0046t0002 a0078c0114t0001 a0037c0062t0001 a0041c0046t0002 a0078c0114t0001	a0037c0062t0001g0025 a0041c0046t0002g0146 a0078c0114t0001g0024 a0037c0062t0001g0025 a0041c0046t0002g0146 a0078c0114t0001g0024	3	68	0.0441	382	c.299 others(403): Show c.2992-19616_2992-19615insAATTATATGTAATTTTATATGGTT ATATATAATTATACGTAGTTTTACATAGTTATATAGTTATAACTATATGT AGTTATATATAATTATAATTATATATAATTTATATACTTATAAATATGTA ATTATATATGTTATAATTATAAATATATATAATATAAATATACAATACAT TTTATATAATATATAATATATAGTATAATACAAAATATACATTATAATAT ATTATAATATATAATATATAATACATATATTATATAAAAATACCATAATA TATAATAATATATATTATAATATATATAATATATAATAATATATTATAAT ATATATTATAATATAGTATAATATATATATTATAATTTATACTATATATA ATATAAAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAN1B1_chr9_137081985_137114183	137103002	A A	ACTGTTGC others(375): Show ACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACACTGTTGCAGGC GTGCAGGTTGGTGTTACACACATTCACACTTGCAGGCGTGCAGGTCGGTG GTGTTACACACATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCA CACTGTTGCAGGCGTGCAGGTCGGTGGTACACACATTCACACTGTTGCAG GCGTGCAGGTCGGTGGTGTTACACACATTCATGGTGTTGCAGGCGTGCAG GTCGGTGTTACACACGTGCTGTTGCAGGCGTGCAGGTCGGTGGTACATTC ATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACATTTTCACGCTGTT GCAGACGTGCAGGTCAGTGGTGTTACATTCATG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0119 a0001c0005t0004g0119	1	404	0.0025	382	c.125 others(401): Show c.1254+1594_1254+1595insGTGCTGTTGCAGGCGTGCAGGTCGGT GGTACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACATTTT CACGCTGTTGCAGACGTGCAGGTCAGTGGTGTTACATTCATGCTGTTGCA GGCGTGCAGGTCGGTGGTGTTACATTCACACTGTTGCAGGCGTGCAGGTT GGTGTTACACACATTCACACTTGCAGGCGTGCAGGTCGGTGGTGTTACAC ACATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACACTGTTGC AGGCGTGCAGGTCGGTGGTACACACATTCACACTGTTGCAGGCGTGCAGG TCGGTGGTGTTACACACATTCATGGTGTTGCAGGCGTGCAGGTCGGTGTT ACACAC	MAN1B1	ENSG00000177239.16	transcript	ENST00000371589.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAN2B2_chr4_6570189_6628362	6579135	C C	CCATCACC others(375): Show CCATCACCACCACCACCCTTCACCACCATCACCACCACCACCATCACCAC CACCATCACCATCACCACCACCACCATCACCACCATCACCATCACCACCA CCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCAT CACCACCACCACCATCACCACCACCATCACCATCACCACCACCACCATCA CCACCATCACCACCACCACCACCACCACCATCACCACCACCACCATCACC ACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0285 a0001c0003t0002g0285	1	342	0.0029	382	c.391 others(397): Show c.391+639_391+640insTCACCACCACCACCCTTCACCACCATCACC ACCACCACCATCACCACCACCATCACCATCACCACCACCACCATCACCAC CATCACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCA CCACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACC ACCACCATCACCACCATCACCACCACCACCATCACCACCACCATCACCAT CACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCATCA CCACCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACC ACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCAT CA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MEGF6_chr1_3482951_3616508	3502043	G G	GCCCCCCA others(375): Show GCCCCCCACACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCC TCACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTG GCGAGTGTGCCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCC CGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCCGCGCCTCC TCACATGGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTCCTCACATGGGC TCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGT GTGCCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCC ACGCCTCCTCACATGGGCTCCTGGCGAGTGTGC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	288	0.0035	382	c.218 others(399): Show c.2189-123_2189-122insGCACACTCGCCAGGAGCCCATGTGAGGA GGCGTGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGG GGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGCACACTCGC CAGGAGCCCATGTGAGGAGGCGCCGGGGGGGCACACTCGCCAGGAGCCCA TGTGAGGAGGCGCGGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAG GCGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACA CTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCA TGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGTGG GGGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
MSH3_chr5_80649652_80881815	80693360	G G	GATAAATA others(375): Show GATAAATATACATGCACATGTATATGTTTATATAGATAAATATACATGCA CATGTATATGTTTATATAGATAAATATACATGCACATGTATATGTTTAGA TAAATATGCACATGTATATGTTTAGATAAATATGCACATGTATATGTTTA GATAAATATACATGCACATGTATGTGTTTAGATAAATATACATGCACATG TATGTGTTTAGATAAATATACATGCACATGTATATGTTTATATAGATAAA TATACATGCACATGTATATGTTTATATAGATAAATATACATGCACATGTA TGTTTATATAGATAAATATACATGCACATGTATATGTTTATATAGATAAA TATACATGCACATGTATATGTTTATATAGATAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0008 a0003c0003t0003g0008	1	92	0.0109	382	c.134 others(403): Show c.1340+14270_1340+14271insAATATACATGCACATGTATATGTT TATATAGATAAATATACATGCACATGTATATGTTTATATAGATAAATATA CATGCACATGTATATGTTTAGATAAATATGCACATGTATATGTTTAGATA AATATGCACATGTATATGTTTAGATAAATATACATGCACATGTATGTGTT TAGATAAATATACATGCACATGTATGTGTTTAGATAAATATACATGCACA TGTATATGTTTATATAGATAAATATACATGCACATGTATATGTTTATATA GATAAATATACATGCACATGTATGTTTATATAGATAAATATACATGCACA TGTATATGTTTATATAGATAAATATACATGCACATGTATATGTTTATATA GATAAATA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSR1_chr8_16102881_16197651	16189400	A A	ATATTTTA others(375): Show ATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAA ATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATAT TTTATATATATAAAATCTTATTTTATATATATTTATATATATTTTTATAT ATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTA TATATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATAT AAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATA TTATATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATC TTATTTTATATATATTTTATATATATAAAATCT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	274	0.0036	382	c.-5+ others(397): Show c.-5+3197_-5+3198insAGATTTTATATATATAAAATATATATAAAA TAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATA TAATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGAT TTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATAT ATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTA TATATATAAAAATATATATAAATATATATAAAATAAGATTTTATATATAT AAAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAA GATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAA TA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar

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