Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ATP9B_chr18_79064394_79383283	79217367	T T	TTTTTTTT others(240): Show TTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0238 a0002c0002t0002g0238	1	298	0.0034	247	c.110 others(266): Show c.1107+3330_1107+3331insTTTTTTTTTTTTTTTCTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGC AATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGG CTAATTTTTTGTATTTTTAGT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
B4GALNT4_chr11_364499_387117	374748	A A	AAGGGAGG others(240): Show AAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGA GGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0140 a0002c0002t0003g0140	1	184	0.0054	247	c.784 others(262): Show c.784-687_784-686insGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAGGG AGGAGGAAGGGAGGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGA GGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGGA GGAGGAAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GAGGGGGG others(240): Show GAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGGGAAGGAGA GGGGGGATGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGAGGGGGA GAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGAGGAGGGGGATGG ACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	298	0.0034	247	c.51+ others(260): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCCCCCTCCTCCCCAGTCCATCTCCCTCCCC CTCTCCCTCCCCCCTCTCCCCCTCCCCTCCCCCCTCTCCCCCTCCCCCTC CCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCC CCATCCCCATCCCCCCTCTCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCC CTCCCCCTCCCCCCT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(240): Show GGGAGGGAGAGGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGGAGG GGGAAGGAGAGGGGGGGATGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGA GGGGGAGGGGGGAGGGGAGGGGGAGGGGGAGGGGGGGAGGGGGAGGGAGA GGGGGAGGGGAGGGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGGATGGA CTGGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	298	0.0034	247	c.51+ others(260): Show c.51+438_51+439insTCCCCAGTCCATCCCCCCTCCTCCCCAGTCCA TCCCCCTCCTCCCCAGTCCATCCTCCCTCCCCCTCTCCCTCCCCCCTCTC CCCCCTCCCCTCCCCCTCTCCCTCCCCCTCCCCCCCTCCCCCTCCCCCTC CCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCATC CCCCCCTCTCCTTCCCCCTCCCCCCTCCCCCCTCCCCCTCCCTCCCCCTC CCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BCHE_chr3_165767904_165842423	165797218	T T	TTCCTTCC others(240): Show TTCCTTCCTTCCCTCCTTCCTTCTTCCCTCCCTCCCCCCTCCCTTCCTTC CTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTC CTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTC CTTCCTTCCTTCCTTCCTCCCTCCCTCCTTCCTTCTTCCCTCCCTCCTTC CTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTCCC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0033 a0002c0002t0004g0033	1	304	0.0033	247	c.151 others(268): Show c.1518-10908_1518-10907insGGGAGGAAGGAAGGAAGGAAGGAA GGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAAGGAG GGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAA GGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGA GGGAGGAAGGAGGGAGGGAAGAAGGAAGGAAGGGAGGGGGGAGGGAGGGA AGAAGGAAGGAGGGAAGGAAGGA	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3			chr3	TogoVar
C7orf50_chr7_992006_1143247	1073945	A A	ACCCCGCT others(240): Show ACCCCGCTACTGTGACGCCCCCCGACCCCTCACCCCGCTGCCGTCACACA CCCCGACCCCGCTGCCGTCACTCCCAACCCCCCACCCCCGCTGCCGTCAC GCTCCGTGACCCCCGACCCCGACACCCTGCTGCCGTGATGTTCCCCCAAC CCTGCACCCCGCTGCCGTGACGCCCGCCCCGACCCCGCACCCCGCTGCTG TCACGCCCCCGACCCCGCACCCCGCCGCCGTCACGCCCGACCCCTCAC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0008 a0007c0005t0008	a0007c0005t0008g0167 a0007c0005t0008g0167	1	326	0.0031	247	c.129 others(266): Show c.129+53311_129+53312insGTGAGGGGTCGGGCGTGACGGCGGCG GGGTGCGGGGTCGGGGGCGTGACAGCAGCGGGGTGCGGGGTCGGGGCGGG CGTCACGGCAGCGGGGTGCAGGGTTGGGGGAACATCACGGCAGCAGGGTG TCGGGGTCGGGGGTCACGGAGCGTGACGGCAGCGGGGGTGGGGGGTTGGG AGTGACGGCAGCGGGGTCGGGGTGTGTGACGGCAGCGGGGTGAGGGGTCG GGGGGCGTCACAGTAGCGGGG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNA1I_chr22_39565753_39694735	39596170	G G	GGGGGGCA others(240): Show GGGGGGCAGGGCGGAGGGAGATGGGGGGGCAGGGCGGAGAGAGATGGGGA GCAGGGCGGAGAGAGATGGGGGGGCAGGGCGGAGAGAGATGGGGGGGGCA GGGCGGAGAGAGATGGGGGGCAGGGCGGAGGGAGATGGGGGGCAGGGCGG AGGGAGATGGGGGAGCAGGACGGAGGGAGATGGGGGGAGCAGGACGGAGG GAGATGGGGGCAGGGCGGAGGGAGATGGGGGGCAGGGCGGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0023 a0004c0006t0023	a0004c0006t0023g0227 a0004c0006t0023g0227	1	236	0.0042	247	c.237 others(264): Show c.237-1935_237-1934insGGAGCAGGGCGGAGAGAGATGGGGGGGC AGGGCGGAGAGAGATGGGGGGGGCAGGGCGGAGAGAGATGGGGGGCAGGG CGGAGGGAGATGGGGGGCAGGGCGGAGGGAGATGGGGGAGCAGGACGGAG GGAGATGGGGGGAGCAGGACGGAGGGAGATGGGGGCAGGGCGGAGGGAGA TGGGGGGCAGGGCGGAGAGAGATGGGGGCAGGGCGGAGGGAGATGGGGGG GCAGGGCGGAGAGAGATGG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CARD11_chr7_2901142_3048867	2909401	A A	ACCCCTCC others(240): Show ACCCCTCCGCCCCCACCCTCCGCCTCTCATCCCTCCGCCCCTCGCCCCTC CGCCCCCACCCCTCCGCCCCCCACCCTCCGCCTCTCATCCCTCCACCCCT CGCCCCTCCGCCCCCACCCCTCCGCCCCTCACCCCTGCGCCCCTCACCCT CCGCCCCCCACCCCTCCGCCCCCCACCCCTCCGCCCCCACCCTCCGCCTC TCATCCCTCCGCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCCTCAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0056 a0001c0056	a0001c0056t0002 a0001c0056t0002	a0001c0056t0002g0100 a0001c0056t0002g0100	1	322	0.0031	247	c.326 others(264): Show c.3260+648_3260+649insGTGAGGGGCGGAGGGGTGGGGGCGGAGG GGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGGGCGGAGGGGTGGGG GGCGGAGGGGTGGGGGGCGGAGGGTGAGGGGCGCAGGGGTGAGGGGCGGA GGGGTGGGGGCGGAGGGGCGAGGGGTGGAGGGATGAGAGGCGGAGGGTGG GGGGCGGAGGGGTGGGGGCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCG GAGGGTGGGGGCGGAGGGG	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(240): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTCCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC CCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCC CTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0056 a0004c0004t0006g0056	1	410	0.0024	247	c.-22 others(258): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGG AGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA AGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCR6_chr6_167118096_167144141	167130970	G G	GGGCCCCC others(240): Show GGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGG ACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCC CCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTC CCTCTGGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCT CCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0203 a0001c0001t0007g0203	1	460	0.0022	247	c.-97 others(264): Show c.-97-5066_-97-5065insCCCCCCTCCCTCCGGGACTCCTCCCTCT GGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGG ACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCC CCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTC CCTCTGGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCT CCGGGACTCCTCCCTCTGG	CCR6	ENSG00000112486.18	transcript	ENST00000341935.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD226_chr18_69848274_69952873	69894561	A A	AGGGGAGG others(240): Show AGGGGAGGGGAGGGAGGGGAGGGGAGGGAGGGAAGGGAGGGAAGGGAGGG AAGGGAGGGAAGGGAGGGGAGGGGAGGGGAGCAGATGGGGGCAGGGGAGG GGAGTGGATGGGGGCAGGGGAGGGGAGGGGAGGGGGAGGGAGACCGGAAG GGGAGGGAGACGGGGAGGGGAGGGAGACGGGGAGGGGGAGGGCAGGGGAG GGGAAGGGCAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp2 HG02630.hp1 others(4): Show HG01891.hp1 HG02559.hp2 HG02630.hp1 HG02647.hp1 NA18906.hp1 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0044 a0001c0001t0082 others(2): Show a0001c0001t0026 a0001c0001t0044 a0001c0001t0082 a0001c0001t0087 a0001c0001t0091	a0001c0001t0026g0066 a0001c0001t0026g0097 a0001c0001t0044g0246 others(4): Show a0001c0001t0026g0066 a0001c0001t0026g0097 a0001c0001t0044g0246 a0001c0001t0044g0247 a0001c0001t0082g0013 a0001c0001t0087g0098 a0001c0001t0091g0055	7	256	0.0273	247	c.727 others(264): Show c.727+1139_727+1140insCTCCCCTCCCCTTCCCCTCCCCTCCCCT TCCCCTCCCCTGCCCTTCCCCTCCCCTGCCCTCCCCCTCCCCGTCTCCCT CCCCTCCCCGTCTCCCTCCCCTTCCGGTCTCCCTCCCCCTCCCCTCCCCT CCCCTGCCCCCATCCACTCCCCTCCCCTGCCCCCATCTGCTCCCCTCCCC TCCCCTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCC TCCCCTCCCTCCCCTCCCC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CENPJ_chr13_24877279_24927861	24882090	A A	ATATAGAT others(240): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTAGATATATAGATACATCATCTATATAGATATATAGATA CATCTATATAGATATATAGATACATCTATATAGATATATAGATACATCTA TATAGATATATAATCTATATAGATACATCTATATAGATATATAATCTATA TAGCTATATAGATACATCTATATAGCTATATAGATACATCTATATAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0112 a0002c0003t0003g0112	1	440	0.0023	247	c.10 others(258): Show c.1086_*1087insGCTATATAGATGTATCTATATAGCTATATAGATG TATCTATATAGCTATATAGATTATATATCTATATAGATGTATCTATATAG ATTATATATCTATATAGATGTATCTATATATCTATATAGATGTATCTATA TATCTATATAGATGTATCTATATATCTATATAGATGATGTATCTATATAT CTAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATAT AGATGTATCTATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		188		chr13	TogoVar
CFAP52_chr17_9571642_9648447	9630988	A A	AAGAAGAA others(240): Show AAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAGAAGAAAGAAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAGAAAAGAAAGAAGAAAGAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAG AAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0099	1	316	0.0032	247	c.117 others(266): Show c.1175-1899_1175-1898insGAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAGAAAGAAAAGAAAGAAAGA AAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAAGAAAGAAGA AAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAA GAAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAAG AAAGAAAGAAAGAAAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP61_chr20_20047532_20365698	20296070	T T	TCCCTCCC others(240): Show TCCCTCCCTCCCTACCTCCCTCCCTCCTTCCTTCCCTTCCTCCCTCCCTC CCTTCTTTACTTCCTTCCTCCTTCCCTCCTCCTTTCCTCCATCCTTCCCT CCCTTCTTTCCTTTCTTCCTCCTGCCCTCCCTCCTTCTTTCCCTTCCTCC CTCCCTTCCTTCCCATCCTCCTTCCCTCCCTCCTTCCTTCCTGCCTTCCT TCCTTCCCTCCATCCTTCCTTCCTTTCCTTCCTTCCTTCCTTTCTTCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02895.hp1 HG02630.hp1 HG02895.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0006 a0001c0012t0002 a0001c0012t0006	a0001c0012t0002g0172 a0001c0012t0006g0009 a0001c0012t0002g0172 a0001c0012t0006g0009	2	236	0.0085	247	c.321 others(266): Show c.3217-2111_3217-2110insCCCTCCCTCCCTACCTCCCTCCCTCC TTCCTTCCCTTCCTCCCTCCCTCCCTTCTTTACTTCCTTCCTCCTTCCCT CCTCCTTTCCTCCATCCTTCCCTCCCTTCTTTCCTTTCTTCCTCCTGCCC TCCCTCCTTCTTTCCCTTCCTCCCTCCCTTCCTTCCCATCCTCCTTCCCT CCCTCCTTCCTTCCTGCCTTCCTTCCTTCCCTCCATCCTTCCTTCCTTTC CTTCCTTCCTTCCTTTCTTCC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	24/26			chr20	TogoVar
CFAP61_chr20_20047532_20365698	20320375	A A	ATATATAT others(240): Show ATATATATTATATATGTAATATAATATATGTAATATATATTATATATGTA ATATATTATATATGTAATATATATTATATATATAATATATGTAATATATA TTATATATATTATATATGCAATATATATTATATATATTATATATGCAATA TATATTATATATTACATATGTAATATATATTATATATTACATATGTAATA TATATTACATATGTAATATATTATATATGTAATATATATTACATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02809.hp2 HG02717.hp2 HG02809.hp2	a0002 a0008 a0002 a0008	a0002c0009 a0008c0020 a0002c0009 a0008c0020	a0002c0009t0001 a0008c0020t0002 a0002c0009t0001 a0008c0020t0002	a0002c0009t0001g0105 a0008c0020t0002g0123 a0002c0009t0001g0105 a0008c0020t0002g0123	2	236	0.0085	247	c.342 others(268): Show c.3423-21449_3423-21448insTATATATGTAATATAATATATGTA ATATATATTATATATGTAATATATTATATATGTAATATATATTATATATA TAATATATGTAATATATATTATATATATTATATATGCAATATATATTATA TATATTATATATGCAATATATATTATATATTACATATGTAATATATATTA TATATTACATATGTAATATATATTACATATGTAATATATTATATATGTAA TATATATTACATATATTATATAT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CNR2_chr1_23865515_23918362	23899973	G G	GAAAGAAA others(240): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAAGAAAAAAAAAGAAAGAAAAGAAAGAA AGAGGGAAGGAAGGAAAGAGAGAAAGAGAAAGAAAGAAAGAAAGGAAA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	268	0.0037	247	c.-46 others(266): Show c.-46+13272_-46+13273insTTTCCTTTCTTTCTTTCTTTCTCTTT CTCTCTTTCCTTCCTTCCCTCTTTCTTTCTTTTCTTTCTTTTTTTTTCTT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTT	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(240): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGGGGGGGGGAGTGCGGGGA GGAGTGTGGGGAGGGAGGGGGGAGGGGAGTGCAGGGGGAGGGGAGTGCGG GGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTG GGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGG GGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	290	0.0035	247	c.-11 others(262): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGAGTGGGGG GGGGAGTGCGGGGAGGAGTGTGGGGAGGGAGGGGGGAGGGGAGTGCAGGG GGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGG GGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGG GGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAG GAGCGGGAGTGTGGGGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(240): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGCG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGG GGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTG GGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGG GGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03139.hp1 HG01891.hp2 HG03139.hp1	a0015 a0024 a0015 a0024	a0015c0025 a0024c0027 a0015c0025 a0024c0027	a0015c0025t0025 a0024c0027t0002 a0015c0025t0025 a0024c0027t0002	a0015c0025t0025g0030 a0024c0027t0002g0102 a0015c0025t0025g0030 a0024c0027t0002g0102	2	290	0.0069	247	c.-11 others(262): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGGAGTGCGG GGGAGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGG GGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGG GGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGG GGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAG GAGCGGGAGTGTGGGGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(240): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGCG GGGGGAGGGGAGTGCGGGGGGGAGGGGAGTGCGGGGGGAGGGGAGTGCGG GGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTG GGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGG GGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0017 a0017	a0017c0042 a0017c0042	a0017c0042t0004 a0017c0042t0004	a0017c0042t0004g0138 a0017c0042t0004g0138	1	290	0.0035	247	c.-11 others(262): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGGAGTGCGG GGGAGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGGAGGGGAGTGCGGGG GGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGG GGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGG GGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAG GAGCGGGAGTGTGGGGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(240): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTG GGGGGAGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGG GGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTG GGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGG GGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02970.hp1 HG02976.hp1 others(1): Show HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0014 a0001c0001t0001g0142 a0001c0001t0001g0143	4	290	0.0138	247	c.-11 others(262): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGGAGTGCGG GGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGAGTGCGGGGG GAGGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGG GGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGG GGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAG GAGCGGGAGTGTGGGGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(240): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGG GGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTG GGGGGGAGGGGAGTGCGGGAGGAGGGGGAGTGCAGGGGAGCGGAGTGTGG GGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0004 a0004c0006t0004	a0004c0006t0004g0031 a0004c0006t0004g0031	1	290	0.0035	247	c.-11 others(262): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGGAGTGCGG GGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGG GGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGG GGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGAGGAGGGGGAGTGCAGG GGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAG GAGCGGGAGTGTGGGGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(240): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGG GGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTG GGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGG GGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01109.hp1 HG01168.hp1 others(20): Show HG01106.hp1 HG01109.hp1 HG01168.hp1 HG01358.hp2 HG01891.hp1 HG02109.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02630.hp1 HG02809.hp2 HG02886.hp2 HG02965.hp1 HG03139.hp2 HG03209.hp2 HG03239.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 NA18906.hp1 NA19240.hp1 NA21309.hp1 NA21309.hp2	a0002 a0004 a0007 others(1): Show a0002 a0004 a0007 a0013	a0002c0002 a0002c0008 a0002c0016 others(4): Show a0002c0002 a0002c0008 a0002c0016 a0002c0048 a0004c0006 a0007c0017 a0013c0047	a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 others(8): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0002c0002t0015 a0002c0002t0019 a0002c0008t0003 a0002c0016t0003 a0002c0048t0014 a0004c0006t0004 a0007c0017t0003 a0013c0047t0014	a0002c0002t0001g0023 a0002c0002t0001g0028 a0002c0002t0001g0032 others(18): Show a0002c0002t0001g0023 a0002c0002t0001g0028 a0002c0002t0001g0032 a0002c0002t0001g0105 a0002c0002t0001g0108 a0002c0002t0001g0243 a0002c0002t0001g0246 a0002c0002t0002g0112 a0002c0002t0009g0110 a0002c0002t0015g0013 a0002c0002t0019g0107 a0002c0002t0019g0242 a0002c0008t0003g0103 a0002c0008t0003g0111 a0002c0008t0003g0113 a0002c0016t0003g0033 a0002c0016t0003g0109 a0002c0048t0014g0114 a0004c0006t0004g0241 a0007c0017t0003g0104 a0013c0047t0014g0106	23	290	0.0793	247	c.-11 others(262): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGGAGTGCGG GGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGG GGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGG GGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGG GGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAG GAGCGGGAGTGTGGGGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(240): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGG GGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGTGGGGGGAGGGGGAGTGTG GGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGG GGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01934.hp1 HG02922.hp2 others(1): Show HG01346.hp2 HG01934.hp1 HG02922.hp2 NA19240.hp2	a0002 a0012 a0002 a0012	a0002c0002 a0012c0046 a0002c0002 a0012c0046	a0002c0002t0001 a0002c0002t0018 a0012c0046t0037 a0002c0002t0001 a0002c0002t0018 a0012c0046t0037	a0002c0002t0001g0027 a0002c0002t0001g0118 a0002c0002t0018g0117 others(1): Show a0002c0002t0001g0027 a0002c0002t0001g0118 a0002c0002t0018g0117 a0012c0046t0037g0119	4	290	0.0138	247	c.-11 others(262): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGGAGTGCGG GGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGG GGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGTGGGG GGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGG GGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAG GAGCGGGAGTGTGGGGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(240): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGG GGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTG GGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGG GGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGAGGGAGTGT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	290	0.0035	247	c.-11 others(262): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGGAGTGCGG GGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGG GGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGG GGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGG GGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAG GAGAGGGAGTGTGGGGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(240): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGG GGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTG GGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGG GGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00438.hp2 others(65): Show HG00099.hp1 HG00140.hp2 HG00438.hp2 HG00609.hp2 HG00673.hp1 HG00738.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01167.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp2 HG02080.hp2 HG02129.hp1 HG02135.hp1 HG02165.hp1 HG02280.hp1 HG02300.hp2 HG02572.hp2 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02895.hp1 HG02896.hp2 HG02976.hp2 HG03017.hp2 HG03239.hp1 HG03654.hp2 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18747.hp1 NA18945.hp1 NA18947.hp1 NA18968.hp2 NA18970.hp1 NA18977.hp1 NA18983.hp1 NA18986.hp1 NA18994.hp2 NA18995.hp2 NA19005.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19054.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19070.hp2 NA19077.hp1 NA19080.hp1 NA19080.hp2 NA19088.hp1 NA20300.hp1	a0001 a0004 a0005 others(5): Show a0001 a0004 a0005 a0007 a0011 a0027 a0028 a0030	a0001c0001 a0001c0005 a0001c0014 others(10): Show a0001c0001 a0001c0005 a0001c0014 a0001c0032 a0001c0039 a0001c0044 a0004c0006 a0005c0007 a0007c0017 a0011c0045 a0027c0030 a0028c0019 a0030c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0018 a0001c0001t0023 a0001c0001t0030 a0001c0001t0035 a0001c0001t0038 a0001c0001t0043 a0001c0005t0012 a0001c0014t0032 a0001c0032t0005 a0001c0039t0045 a0001c0044t0005 a0004c0006t0004 a0005c0007t0007 a0007c0017t0003 a0011c0045t0047 a0027c0030t0002 a0028c0019t0005 a0030c0026t0025	a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0154 others(53): Show a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0002g0007 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0155 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0005g0003 a0001c0001t0005g0168 a0001c0001t0007g0122 a0001c0001t0008g0169 a0001c0001t0009g0152 a0001c0001t0010g0015 a0001c0001t0010g0016 a0001c0001t0018g0148 a0001c0001t0023g0006 a0001c0001t0023g0151 a0001c0001t0030g0161 a0001c0001t0035g0176 a0001c0001t0038g0150 a0001c0001t0043g0166 a0001c0005t0012g0007 a0001c0005t0012g0153 a0001c0014t0032g0247 a0001c0032t0005g0171 a0001c0039t0045g0179 a0001c0044t0005g0167 a0004c0006t0004g0124 a0004c0006t0004g0125 a0005c0007t0007g0017 a0005c0007t0007g0160 a0007c0017t0003g0123 a0011c0045t0047g0178 a0027c0030t0002g0022 a0028c0019t0005g0183 a0030c0026t0025g0181	68	290	0.2345	247	c.-11 others(262): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGGAGTGCGG GGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGG GGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGG GGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGG GGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAG GAGCGGGAGTGTGGGGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(240): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGG GGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGTGGGGGGAGGGGGAGTGTG GGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGG GGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0190 a0006c0010t0001g0190	1	290	0.0035	247	c.-11 others(262): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGGAGTGCGG GGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGG GGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGTGGGG GGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGG GGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAG GAGCGGGAGTGTGGGGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(240): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGG GGGGAGGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGGAGTGTG GGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGG GGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0240 a0001c0001t0036g0240	1	290	0.0035	247	c.-11 others(262): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGGAGTGCGG GGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGG GGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGGAGTGCGGGG GGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGG GGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAG GAGCGGGAGTGTGGGGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(240): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTG GGGGGAGGGGAGTGTGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGG GGGGAGGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGGAGTGTG GGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGG GGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp1 HG01070.hp2 others(4): Show HG00099.hp2 HG00741.hp1 HG01070.hp2 HG01261.hp2 HG03471.hp2 HG03831.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 others(4): Show a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0002g0227	7	290	0.0241	247	c.-11 others(262): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGGAGTGCGG GGGAGGGGAGTGTGGGGGGAGGGGAGTGTGGGGGGAGGGGGAGTGCGGGG GGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGGAGTGCGGGG GGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGG GGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAG GAGCGGGAGTGTGGGGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(240): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGC GGGGGAGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGG GGGAAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTG GGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGG GGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCGGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0004 a0010c0015t0004	a0010c0015t0004g0249 a0010c0015t0004g0249	1	290	0.0035	247	c.-11 others(262): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGGAGTGCGG GGGAGGGGGAGTGCGGGGGAGGGGAGTGCGGGGGGAGGGGAGTGCGGGGG GAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGG GGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGG GGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCGGAG GAGCGGGAGTGTGGGGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL4A1_chr13_110143963_110312157	110255668	C C	CAGGAAGG others(240): Show CAGGAAGGGAGGGGGCAGGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGGAGGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGG GAAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAGGCAAGAA GGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02723.hp1 HG02145.hp1 HG02723.hp1	a0002 a0003 a0002 a0003	a0002c0011 a0003c0009 a0002c0011 a0003c0009	a0002c0011t0001 a0003c0009t0001 a0002c0011t0001 a0003c0009t0001	a0002c0011t0001g0216 a0003c0009t0001g0191 a0002c0011t0001g0216 a0003c0009t0001g0191	2	344	0.0058	247	c.85- others(264): Show c.85-12935_85-12934insTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCTTGCCTGCCCCCTCCCTTCCTGCCTGC CCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCC CCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCTT GCCTGCCCCCTCCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255668	C C	CAGGAAGG others(240): Show CAGGAAGGGAGGGGGCAGGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGGAGGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGG GCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAGGCAAGAA GGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0190 a0002c0004t0001g0190	1	344	0.0029	247	c.85- others(264): Show c.85-12935_85-12934insTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCTTGCCTGCCCCCTCCCTTCCTGCCTGC CCCCTTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCC CCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCTT GCCTGCCCCCTCCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CSF2RA_chrX_1263814_1314935	1314697	C C	CCCCATGG others(240): Show CCCCATGGCACCTGCCCAATCCCACTGCACCTGCCCAACCGCACTGCACC TGCCCAACCCCACTGCGCCTGCCGAACCCCACTGCATCTGCCCAACCACT CTGTGCCTGCCCAACCACACTGCACCTGCCTAACCGTACTGCACCTGCCC AACCGCACTGCACTTGCCCAATTGCACTGCACCTGCCCAACCCCAATGCA CCTACCCAACCCCACTGTGCCTGCTCAACCGCACTGCACCTGCCCAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0005 a0001c0014t0005	a0001c0014t0005g0150 a0001c0014t0005g0150	1	159	0.0063	247	c.52 others(258): Show c.5218_*5219insCCCATGGCACCTGCCCAATCCCACTGCACCTGCC CAACCGCACTGCACCTGCCCAACCCCACTGCGCCTGCCGAACCCCACTGC ATCTGCCCAACCACTCTGTGCCTGCCCAACCACACTGCACCTGCCTAACC GTACTGCACCTGCCCAACCGCACTGCACTTGCCCAATTGCACTGCACCTG CCCAACCCCAATGCACCTACCCAACCCCACTGTGCCTGCTCAACCGCACT GCACCTGCCCAAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4763		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314763	A A	ACCTGCCC others(240): Show ACCTGCCCAACCACACAGCATCTGCCCAACCACTCTGTGCCTGCCCAACC ACACTGCACCTGCCTAACCGCACTGCACCTGCCCAACCCCACTGCGCCTG CCCAACCCCACTGCATCTGCCCAACCACTCTGTGCCTGCCCAACCACACT GCACCTGCCTAACCGTACTGCACCTGCCCAACCGCACTGCACTTGCCCAA TTGCACTGCACCTGCCCAACCCCAATGCACCTACCCAACCCCACTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0152 a0002c0004t0007g0152	1	159	0.0063	247	c.52 others(258): Show c.5284_*5285insCCTGCCCAACCACACAGCATCTGCCCAACCACTC TGTGCCTGCCCAACCACACTGCACCTGCCTAACCGCACTGCACCTGCCCA ACCCCACTGCGCCTGCCCAACCCCACTGCATCTGCCCAACCACTCTGTGC CTGCCCAACCACACTGCACCTGCCTAACCGTACTGCACCTGCCCAACCGC ACTGCACTTGCCCAATTGCACTGCACCTGCCCAACCCCAATGCACCTACC CAACCCCACTGTG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4829		chrX	TogoVar
CSTPP1_chr11_46931761_47167247	47036037	A A	AAAAGTGG others(240): Show AAAAGTGGGATAGATATAAAGGTCACTTATCTAAGAATTTTTTTTGTCCA TGTTTTACTTTTGGAACTATGTTAATATTTCATTTACATGAGTAAGTATA TATATATTATATATGTTATTTTATATATATATTATATATATGATATATGA TATATTATAATATATTATATATGATATTATATTATATTATATATATCATA TATTATATATTATATTATATATAATATTATATATAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03225.hp1 HG03579.hp1 HG02818.hp1 HG03225.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0198	3	224	0.0134	247	c.150 others(266): Show c.150-16351_150-16350insAAAGTGGGATAGATATAAAGGTCACT TATCTAAGAATTTTTTTTGTCCATGTTTTACTTTTGGAACTATGTTAATA TTTCATTTACATGAGTAAGTATATATATATTATATATGTTATTTTATATA TATATTATATATATGATATATGATATATTATAATATATTATATATGATAT TATATTATATTATATATATCATATATTATATATTATATTATATATAATAT TATATATAATATATATTATAT	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	2/8			chr11	TogoVar
CSTPP1_chr11_46931761_47167247	47036037	A A	AAAAGTGG others(240): Show AAAAGTGGGATAGATATAAAGGTCACTTATCTAAGAATTTTTTTTGTCCA TGTTTTACTTTTGGAACTATGTTAATATTTCATTTACATGAGTAAGTATA TATATATTATATATGTTATTTTATATATATATTATATATATGATATATGA TATATTATAATATATTATATATGATATTATATTATATTATATATTATATC ATATATATTATATTATATATAATATTATATATTATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	224	0.0045	247	c.150 others(266): Show c.150-16351_150-16350insAAAGTGGGATAGATATAAAGGTCACT TATCTAAGAATTTTTTTTGTCCATGTTTTACTTTTGGAACTATGTTAATA TTTCATTTACATGAGTAAGTATATATATATTATATATGTTATTTTATATA TATATTATATATATGATATATGATATATTATAATATATTATATATGATAT TATATTATATTATATATTATATCATATATATTATATTATATATAATATTA TATATTATATATAATATATAT	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	2/8			chr11	TogoVar
CTNNA3_chr10_65907523_67701195	66289348	G G	GGAGACTG others(240): Show GGAGACTGAGGAGGGCAGATCACCTGAGGTCTGGAGTTTGAGGCTAGCCT GGCCAACACGGTGAAACTCTGTCTCTACTAAAAATACAAAAATTAGCTGG GCATGGTGGCTGGCACCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGG AGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGTCGACATCATGC CATTGCACTCCAGCCTGGGTGAAAAGAGAAAGACTCCATCTCAAAATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01081.hp1 HG02280.hp1 others(16): Show HG01070.hp1 HG01081.hp1 HG02280.hp1 HG02280.hp2 HG02622.hp1 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03130.hp1 HG03540.hp2 HG03579.hp2 NA18612.hp1 NA18612.hp2 NA18960.hp1 NA19080.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0005c0010 a0001c0001 a0001c0004 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0004t0007 a0005c0010t0002	a0001c0001t0001g0006 a0001c0001t0002g0009 a0001c0001t0002g0024 others(16): Show a0001c0001t0001g0006 a0001c0001t0002g0009 a0001c0001t0002g0024 a0001c0001t0003g0023 a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0005g0010 a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0027 a0001c0001t0007g0020 a0001c0001t0016g0003 a0001c0001t0019g0019 a0001c0001t0020g0030 a0001c0001t0021g0012 a0001c0001t0023g0011 a0001c0001t0024g0044 a0001c0004t0007g0005 a0005c0010t0002g0021	19	46	0.4130	247	c.173 others(266): Show c.1733-8728_1733-8727insTATTTTGAGATGGAGTCTTTCTCTTT TCACCCAGGCTGGAGTGCAATGGCATGATGTCGACTCACTGCAACCTCTG CCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAA TTACAGGTGCCAGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAG ACAGAGTTTCACCGTGTTGGCCAGGCTAGCCTCAAACTCCAGACCTCAGG TGATCTGCCCTCCTCAGTCTC	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	12/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66289348	G G	GGAGACTG others(240): Show GGAGACTGAGGAGGGCAGATCACCTGAGGTCTGGAGTTTGAGGCTAGCCT GGCCAACACGGTGAAACTCTGTCTCTACTAAAAATACAAAAATTAGCTGG GCATGGTGGCTGGCACCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGG AGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGTCGACATCATGC CATTGTACTCCAGCCTGGGTGAAAAGAGAAAGACTCCATCTCAAAATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02622.hp2 HG02647.hp1 others(3): Show HG01081.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0008 a0001c0003t0011 a0001c0003t0014 others(3): Show a0001c0003t0008 a0001c0003t0011 a0001c0003t0014 a0001c0003t0018 a0001c0003t0022 a0001c0006t0001	a0001c0003t0008g0002 a0001c0003t0011g0032 a0001c0003t0014g0025 others(3): Show a0001c0003t0008g0002 a0001c0003t0011g0032 a0001c0003t0014g0025 a0001c0003t0018g0037 a0001c0003t0022g0022 a0001c0006t0001g0001	6	46	0.1304	247	c.173 others(266): Show c.1733-8728_1733-8727insTATTTTGAGATGGAGTCTTTCTCTTT TCACCCAGGCTGGAGTACAATGGCATGATGTCGACTCACTGCAACCTCTG CCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAA TTACAGGTGCCAGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAG ACAGAGTTTCACCGTGTTGGCCAGGCTAGCCTCAAACTCCAGACCTCAGG TGATCTGCCCTCCTCAGTCTC	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	12/17			chr10	TogoVar
D2HGDH_chr2_241729630_241773811	241765345	G G	GGGGGAGA others(240): Show GGGGGAGAACTTGGGAGATGGGAGCCCTGGGCTGAGGGAGTAGGAAGAGG GTGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGG GGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGG GGGGAGAACTTGGGGAGATAGGAGCCCCAGGCTGAGGGAGTAGGAAGAGG GGGGAGAAGTTGGGGAGATGCGAGCCCCGGGCTGAGGGAGTAGGAAGA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0010	a0003c0003t0010g0328 a0003c0003t0010g0328	1	412	0.0024	247	c.130 others(266): Show c.1307-2361_1307-2360insAGAACTTGGGAGATGGGAGCCCTGGG CTGAGGGAGTAGGAAGAGGGTGGAGAACTTGGGGAGATGGGAGCCCCGGG CTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGG CTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATAGGAGCCCCAGG CTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGCGAGCCCCGGG CTGAGGGAGTAGGAAGAGGGG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRS4_chr14_23948770_23974279	23951700	C C	CTCATAGG others(240): Show CTCATAGGTGGGAATTGAACAATGAGAACACTTGGACACAGGGTGGGGAA CATCACACACTGGGGCCTGTCGTGGGGTGCAGGCATGGGGAAGGGATAGC ATTAGGAGGAATACCGAATGTAAATGATGAGTTAACGGGTGCAGCACACC AACATGGCACATGTGTACATATGTAAAAAACCTGCACGTTGTACACGTGC ACCCTAGAACTTAAAGTATAATTAAAAAAAAAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0011 a0011	a0011c0025 a0011c0025	a0011c0025t0014 a0011c0025t0014	a0011c0025t0014g0191 a0011c0025t0014g0191	1	267	0.0038	247	c.-20 others(258): Show c.-2089_-2088insTCATAGGTGGGAATTGAACAATGAGAACACTTGG ACACAGGGTGGGGAACATCACACACTGGGGCCTGTCGTGGGGTGCAGGCA TGGGGAAGGGATAGCATTAGGAGGAATACCGAATGTAAATGATGAGTTAA CGGGTGCAGCACACCAACATGGCACATGTGTACATATGTAAAAAACCTGC ACGTTGTACACGTGCACCCTAGAACTTAAAGTATAATTAAAAAAAAAAAG AAAGAAAGAAAGA	DHRS4	ENSG00000157326.19	transcript	ENST00000313250.10	protein_coding		2069		chr14	TogoVar
DHX40_chr17_59560610_59613345	59569699	A A	AAAATATA others(240): Show AAAATATATATATCTATATATATATTATAGATATATATATTATATATATA TCTATATATATATAGATATATATATAATATATATATCTATATATATAGAT ATATATATAATATATATATCTATATATATATAGATATATATATAATATAT ATATCTATATATATATAGATATATATATAATATATATATCTATATATATA TAGATATATATATAATATATATATCTATATATATATAGATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0038 a0001c0004t0002g0038	1	324	0.0031	247	c.281 others(262): Show c.281-819_281-818insAAATATATATATCTATATATATATTATAGA TATATATATTATATATATATCTATATATATATAGATATATATATAATATA TATATCTATATATATAGATATATATATAATATATATATCTATATATATAT AGATATATATATAATATATATATCTATATATATATAGATATATATATAAT ATATATATCTATATATATATAGATATATATATAATATATATATCTATATA TATATAGATATATATAT	DHX40	ENSG00000108406.10	transcript	ENST00000251241.9	protein_coding	2/17			chr17	TogoVar
DIP2B_chr12_50499985_50753657	50593828	T T	TCCCCTCT others(240): Show TCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCC TCCCCTCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTC CCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCACCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	284	0.0035	247	c.101 others(266): Show c.101-32145_101-32144insCTCTCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCTCCCCTCCCTCTCCCCTCCCCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCCTCCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCTCCCACCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCTCCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593875	T T	TTCTCCCC others(240): Show TTCTCCCCTCTCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCC CCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0195 a0001c0006t0009g0195	1	284	0.0035	247	c.101 others(266): Show c.101-32101_101-32100insTCTCCCCTCTCCTCCCCTCCCCCCTC CCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTC CCCTCCCCTCCCCTCTCCTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37			chr12	TogoVar
DIP2C_chr10_269201_694668	478371	G G	GGGAGAGG others(240): Show GGGAGAGGAGGGGAGGGGAGAGGAGGGGAGGGGAGAAGAAGGGAGGGGAG AGGAGGCGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG AAGAAGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGAAGAAGGGAA GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAAGGGAG GGGAGAGGAGGAGAGAAGGAGAGGGGCGGGGCGGGGCAGGGCGGGGCA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0067 a0001c0002t0002g0067	1	88	0.0114	247	c.158 others(264): Show c.158-5823_158-5822insTGCCCCGCCCTGCCCCGCCCCGCCCCTC TCCTTCTCTCCTCCTCTCCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCTTCTTCTCCCTTCTTCTCCCCTCCC CTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC TTCTTCTCCCCTCGCCTCCTCTCCCCTCCCTTCTTCTCCCCTCCCCTCCT CTCCCCTCCCCTCCTCTCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	478383	G G	GGAGGGAA others(240): Show GGAGGGAAGAAGAAGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGG GGAGAAGGGAGAAGAAGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGAGAGGAAGGGAGGGGAAGGGAGGGGAGAGGAGGAG AGAAGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCG GGGCGGGGCGGGGCAGGGAGGGGAGGGGCGAAGAGGGGAGGGGCAGAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	88	0.0114	247	c.158 others(264): Show c.158-5835_158-5834insGTCTGCCCCTCCCCTCTTCGCCCCTCCC CTCCCTGCCCCGCCCCGCCCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTC CGCCCCGCCCCTCTCCTTCTCTCCTCCTCTCCCCTCCCTTCCCCTCCCTT CCTCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCT TCCCTTCTTCTCCCTTCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCC CCTCCCTTCTTCTTCCCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	478386	G G	GGGAAGAA others(240): Show GGGAAGAAGAAGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGA GAAGGGAGAAGAAGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAAGGGAGGGGAAGG GAGGGGAGAGGAGGAGAGAAGGAGAGGGGCGGGGCGGAGAGGGGCGGGGC GGAGAGGGGCGGGGCGGGGCGGGGCGGGGCAGGGAGGGGAGGGGCGAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	88	0.0114	247	c.158 others(264): Show c.158-5838_158-5837insTTCGCCCCTCCCCTCCCTGCCCCGCCCC GCCCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCC TTCTCTCCTCCTCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCTTCCCTTCTTCTCCCTTCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCC TCCCCTCCCTTCTTCTTCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1374069	C C	CGGCTGTG others(240): Show CGGCTGTGTGGTGGAGGTTAGGTTAGGTTTACAGAAGGCTGTGTGGTGGA GGTTAGGTTAGGTTTGCAGAGGGCTGTGTGGTGGAGGTTAGGTTAGGTTT GCAGAGGGCTGTGTAGTGTGGAGGTTAGGTTAGGTTTACAGAAGGCTGTG TGGTGGAGGTTAGGTTAGGTTTGCAGAGGGCTGTGTGGTGGAGGTTAGGT TAGGTTTGCAGACGGCTGTGTGGTGGAGGTTAGGTTAGGTTTACAGAA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0036 a0001c0012t0004g0036	1	40	0.0250	247	c.106 others(268): Show c.106+115215_106+115216insACAGAAGGCTGTGTGGTGGAGGTT AGGTTAGGTTTGCAGAGGGCTGTGTGGTGGAGGTTAGGTTAGGTTTGCAG AGGGCTGTGTAGTGTGGAGGTTAGGTTAGGTTTACAGAAGGCTGTGTGGT GGAGGTTAGGTTAGGTTTGCAGAGGGCTGTGTGGTGGAGGTTAGGTTAGG TTTGCAGACGGCTGTGTGGTGGAGGTTAGGTTAGGTTTACAGAAGGCTGT GTGGTGGAGGTTAGGTTAGGTTT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1450270	G G	GACTGTAG others(240): Show GACTGTAGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGC TGAGGCTGAGCTGTGAGGGTGAAGACGAGGTGGGTGGCCTCGGTGGCTCG GGCGGAGCTGTGAGGGTGAAGATGAGGTGGGCGGCCTCGGTGGCTGAGGC TGAGCTGTGAGGGTGAAGATGAGGTGGGCGTCCTCGGTGGCTGAGGCGGA GCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGTGACTGTA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	247	c.107 others(266): Show c.107-51096_107-51095insACTGTAGCGGAGCTGTGAGGGTGAAG ACGAGGTGGGCGGCCTCGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGACG AGGTGGGTGGCCTCGGTGGCTCGGGCGGAGCTGTGAGGGTGAAGATGAGG TGGGCGGCCTCGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGATGAGGTGG GCGTCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCG GCCTCGGTGGCTGTGACTGTA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14			chr8	TogoVar
DNAH8_chr6_38710311_39035792	38964350	G G	GGACGGGG others(240): Show GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCG GACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGACGGCTGGCCGGGCAGG GGGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01928.hp1 HG02273.hp2 others(2): Show HG00673.hp1 HG01928.hp1 HG02273.hp2 HG02293.hp1 NA19087.hp2	a0009 a0010 a0019 others(2): Show a0009 a0010 a0019 a0034 a0058	a0009c0018 a0010c0009 a0019c0026 others(2): Show a0009c0018 a0010c0009 a0019c0026 a0034c0048 a0058c0109	a0009c0018t0001 a0010c0009t0001 a0019c0026t0001 others(2): Show a0009c0018t0001 a0010c0009t0001 a0019c0026t0001 a0034c0048t0001 a0058c0109t0001	a0009c0018t0001g0038 a0010c0009t0001g0005 a0019c0026t0001g0216 others(2): Show a0009c0018t0001g0038 a0010c0009t0001g0005 a0019c0026t0001g0216 a0034c0048t0001g0184 a0058c0109t0001g0006	5	284	0.0176	247	c.124 others(268): Show c.12452-7241_12452-7240insACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGACGGCTGGCCGGGCAGGGGGCCGACCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCG	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	82/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAI7_chr12_25103289_25200160	25106558	G G	GTTGCCTA others(240): Show GTTGCCTAGGCTGGAGTACAGTAGTGCAACCATAGCTCACTACAGCCTCC AACTCCAGGGCTCAAGCAATCCCTGGAGTCCTGAGATCCTTGGGAGGAAT CCCCTTTCTTGGCCTCCCAAAGTGCTGAGATTAAAGTGTTTAATAAAGTA TGGTTAAACATGCACACACACACACATATATAGTTTTGGAAACAATCTGC CTCCCACCCTTTGTAACTATTAGGATTAAAGAAATGCATATACATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02717.hp1 HG02622.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0229 a0001c0001t0001g0231	2	336	0.0060	247	c.19 others(258): Show c.1989_*1990insTATATGTATATGCATTTCTTTAATCCTAATAGTT ACAAAGGGTGGGAGGCAGATTGTTTCCAAAACTATATATGTGTGTGTGTG TGCATGTTTAACCATACTTTATTAAACACTTTAATCTCAGCACTTTGGGA GGCCAAGAAAGGGGATTCCTCCCAAGGATCTCAGGACTCCAGGGATTGCT TGAGCCCTGGAGTTGGAGGCTGTAGTGAGCTATGGTTGCACTACTGTACT CCAGCCTAGGCAA	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding		1730		chr12	TogoVar
DNAJB6_chr7_157332004_157422439	157369727	C C	CACATTAT others(240): Show CACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCT TTCATAACATTATTATTAAACGAGCCCCTTCTTAACATCATTATTAAACA GGCCTTTCATAATGTTATTATTAAACGGGCCCCTTCTTAACATTATTATT AAACAGGCCCCTTCTCAACATTATTATTAAACAGGCCCCTTCTTAACATT ATTATTAAACGGGACCCTTCTTAAGATTATTAAACGGGCCCTTTCTTA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	372	0.0027	247	c.346 others(264): Show c.346+2355_346+2356insTGTTATTATTAAACGGGCCCCTTCTTAA CATTATTATTAAACAGGCCCCTTCTCAACATTATTATTAAACAGGCCCCT TCTTAACATTATTATTAAACGGGACCCTTCTTAAGATTATTAAACGGGCC CTTTCTTAACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAA CAGGCCTTTCATAACATTATTATTAAACGAGCCCCTTCTTAACATCATTA TTAAACAGGCCTTTCATAA	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar

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