Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
LCOR_chr10_96827298_97000956	96857493	CCCCTGCA others(2435): Show CCCCTGCAGTTTACCACAATGGCTCTTTAGCCTCTATATACTCTTACTTC TCTCTCAGCTGATGATCTTGTCACCTGCAGAACAGTGAAAATTTAGGCTA TTGAAAGTGAATATTCCACAGCATCCTCCCTTTTACCCAGGGCTACTTAG AAAATTTTAGAAAAATACTGCCTAAAGCATTGTTTCAAAGTATCGATCGC TTGAACAAAACCGCTACCCTAGATGATCTTGGGCAGGGTAGGGGAATCTG TATTTTTAACAAGTGTCTCAAATGATGCTTGGACACACTGAAGTTTGGAA ACCACAGGCATGTGAATAAGGTTACTTTAACCAGCATGCAAGATTCTCCA AGATATCTGATCCCAGGCTATTGCTTCAGTTTCACCTCTCTCTCTATACC CTGCCCAGTCCCTATTCCCTAACCCCTGAAGTCTTCTTACCATAAAATAG CTCACTCTTTTTCTAGTGTATCAGGCTAAAATTGAGTAAGAGGTAGTGTT CTGTTTGTTGTGATTCAAGTTATTTAAGGAAAAATAAAAACTAAGATGAG AAAGAGGGAGTGTTAATTTTTGGACACAGTTTGGTGTACCCTTAATGACT TTAACACAGTGATTTTTAAAAGGTTAAGTGGGAGGAATTGTGCATTTGAG AACCACTGTATTAGAAGTATTAGAGATAGTAAGGACTGTAATTTTTCTAT TTGTGTGAATTGTGATGAGACACTTGAAACGTGACCTTTAACAGGTGAAA CATTTTATCTAGTTTTACTTCAAAATGTAATGCTTTCCTTTTTGTTCAGA GCATGTTACTCTGAGGTTTCTGAAGCACCAGCAAATGGATTAAGTAAAGG TCTGGGGATTTTCGACAGACAAATTGGTAAAAGTTGGAGGTGGCCAGCAG GCAGAAAAAGAAGACCTTTAGATTGTGAGTATAAAATGTTCATGATCCTT CCAGAACTACAGGGTTACTTACTGACATACTATGTGTGTGACACAGTTTG CTAGAGAAACAAACCAACCATAAATAATTGTAGGCATAATAAAGGGTGAG ACTATCATGAGTTTCCTCACAGTGGTGCTGTGGTCAGAAAGAGATATTCA ATATGATTGTCACCATTCTGGCTAGCATTTAGTAATTAGGCTTGTCATTA CTTTTGGGGATGATCATAATGTGGAGTGTCATTAGGGAGGGGAAAACTTT ATGAATGTTTGGATACTTAGGGTTTTTTGTTTTTTTAAAATAACTCTGGG AGTTTCTAATATTGTTTATATTTTGCTATCAGGACCTCACAGATCCGTAC TTTTAACAAGCATGAATGAATTTGTAACTTAGATTCCAGAACCCTGCCTG GCAGATGGCCTGGTGGATAGGGCCATCTGTGTCCATTACACAGATACAAA TTATTCTTTCTCTACTGGCTCTCCCTGTCCTTTGCTAAATTTGAGAAAGT AACCTTAAAAAAGTGAGGTTCTTTTCTCAACCATACGGCACATTGCAGTA TTGTGCTTTTATCAGGACACTTTGTATTGCAAATGATAGAAACCCAACTC AGGTTAGTTTAAGTCAAAAAGGTCATTTTGTGGGTTTATGAACTCGGAAG TTCAGAGCATAAAATGAGGTTCTAACATGACAGGATCCAGGAGTTTTAAC TGATATCATCAGGAATGTTTCCTTCTTTCCATCGGTAAGCATTTTGTTGT ACTTTTGGCTTTGTTCTTTGGCAGGTATGATGGTAAAGATGGTCAGTGGC ATCTGTTGCCCGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACC TTAGCGTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGATTACAGGCGCCTGCCACCACATCTGGCTAATTTTTTTGTATTTTTA GTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGAC CTCAGGTGATCCACTTGCCTCAGCCTCCCAAAGTGCTAGGATTATAGGTG CGAGCCACCGCGCCCAGCCTAGACTTGTATCATTCTTAAAGTCCAGAATC CCAGAAGGAGGCATGTGTCTCTTTCCTTTTTTTGAGACCGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTTACTCCAAACTC TGGCTTCTAGGTTAAAGTAATTCTCGTGCCTCAGCCTCTTGAGTAGCTGG CACCACAGGCGTGTGCTACCAAACCTGGCTAATTTTTTGTATTTTTAGTA GAGAAGGGGTTTTGCCATGTTGCCCAGGCTGGTATCAAACTCCTGAACTC AAGCAGTCCACTCTTGGCTTCCGAAAGTGGTGGGACTACTGGCATGAGCT GCGGCACCTGGCCTGATGTGTCTCTTTCTGTATAGTACCAGCCAAACTGA GTGGATAGAAGGACATTGGCCAGGCCTGGGTCATGTGGCCCAT	C C	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0100 a0001c0004t0100	a0001c0004t0100g0011 a0001c0004t0100g0011	1	286	0.0035	-2442	c.-33 others(21): Show c.-330+24020_-330+26461del	LCOR	ENSG00000196233.14	transcript	ENST00000421806.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
PEX14_chr1_10469950_10635758	10483496	CAGTAGAG others(2434): Show CAGTAGAGACGGGGTTTCACTATGTTGGCCAGGATGGTCTCAATCTCCTG ACCTCATGATCCACCCGCCTCGGCCCCCCAAAGTGCTGGGATTATAGGCG TGAGCCACTGCGCCTGGCCTGGCCAAGTTTTTTTTTAGTATTTTAGTTTA ATATTGTATTGACTGACAAAGTCTTATGGCCTAAACTTTACTGTGGAATT CTAATAGGTGTGTTGTGATCAGTTTGAGTTTTGACAAATTGTATATACGT GTGTAACCACTACCACCCTAAACCTGTGTAACCACCACTGCCACAAGCAA GATCAACAGTTTCAGTATCCCTAAACGTTCCCTTACGCCCCTTCCCATTG AATCCTTGCCTGTGGTCCTAGGAAATCTGAACTGTTTTCTATTACTATAG AGTATATTTGTCCCTCCTAGAATTTCATATGAATGAATTATGTATTCTTT TATGTCTTTTTTGGCTCAGAATAATGTTTGTGAAATTTATTTGTGTTATG GTATGTATCAGTAATTATCAGTAATGAATTACCTTTTTTTTTTTTTTTTT GAGATGGTATTTCGCTCTTGTTGCCCAGGTTGAAGTGAAGTGGCTCAGTC TTGGCTCACTGCAACCCCTGCCTCCTGGGTTCAAGAGATTCCCCTGCCCC AGCCTTCCAGTAGCTGGGATTACAGGCGCCCACCACCATGGCCGGCTAAT TGGCTAATTTTTTTGAATTTTTAGTAGAGACAAGGTTTCACCATGTTGGC CAGAGTGGTCTTGAACCCCTGACCTCAAATGATTTGCCCACCTCGGCCTC CCAAAGTGCTGGGATTACATGTGTGAGTCACTGCGTCCAGCCAATTTTTT TTTGTTTAGTAGAGATGGGGTTTCACTGTGTTGGTCAGGCTGGTCTCCAA CTCCTGACCTCATGTGATCCAACTGCCTTGGCCTCCCAATGTGTTGGGAT TACAGGCGTGAGCCACTGCGCCTGACCATGAATTACTTTTTACCGCTGAG TAGTATTCCATCGTATGGATGGCTATATCTCAATTTGTTGATCTGTTCAC CAGTTGATGGACATTTGTAGTAGTTTTTGATTCCTGCGTAACAGTATTAC CACAAATTTAGCCGCTTGGCACAGCACACATTGATTATCTCATGGTTTCT GTGGGTCAGGAGTCAGGAAACCACTGGGCTGAGTCTCACCAGGCTACTAT TGAGAAATCTGTCAGGACTGTGGTCGCTGACTAGGGAGGGGTCTGCTTCC TAGCTTGTGTGGTTGTTGGTGGCATTCAGTTCCTTATGGACCATGAGACT GGAGACTTTAGTGTGTTACTGTCAGCCAGCGGCCGCCCTCAGTTTCTTGC CAAATGAGTCTTCCCACTTGCCTCCTCAAAGCCAGCAGAAGAGAGAGTCT CTTAGTAAAGTGGACATTACCACGACGTATCTCACCCACATTAATGCAGT CACGTACATGCTGTCACCTTTGCCATATTGTGTTGGCCAGAAGCAAGTAA CAGATCCTGGCCACATTTGAGTAGAAGGAACAGCACAGGGGCATGGATAC CAGGAGGTGGGGATCATGGGGTCACCTTAGAGTCTGTTCCCCACAGGATT CCTTCTCATTCTGGGCTACTGTGAGTATTTGTGTATGTGTAAGTGTTTGC GAGGACATATTCTTCATTTTTCTGGGGAAATAACCTGTAAGTGGAATGGT AGGCTTATGTAGTAAGTATGTTTAGCTTTGTAAGAAACTGTCTAAATTGT CTAAATGTTTTTAGCCATTCTGGTGAGTGTGTAGTGTTATTTATTTGTGT GTGGTTTTTTTTTTTTTTTTTTTTTTTTAAGAGACAGGGTCTTTTTTGTC TTTGTCGCCCAAGCTGGAGTGCAGTGGTGCAATCATACATAGCTCACTGT AATCTCCAAGTCCTGGGCTCAAGTGATCCTCCAGCCTCAGCCTCCTGAGT AGCTAAGACTCAGGTGCATGCCACCATGCCCAGCTAATTATTTTTTGAAT TTTTGTAGCGAGGGGGTCTTGCTGTGTTGCGCAGGCTGGTCTTGAACTTC TGGACTTGAGTAGCCCTCCTACCTCTGCCTCCCAAAGTGCTGGAAGTACA GGCATGAACCACAGGGCCGAGCCTAAATATTTTTTTGTTTTCAGGATACT GTTATATTTATGGATTTTATTTTTTAATTATTCAATGCTACTATGTAGAA ATAAAATTGAATTTTATATATTGGTCTTGTATCTGCAACCTTGTTAACTT ATAATTCTAGTAGTTTTTTTTTTTTTTTGAGACAGACTCATGCTGTGTCA CCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCGCACTGCAACCCCCGCCT CCTGGGTTCAAGCGATTCTCCTGTCTCAGACTCCCTAGTAGCTGAGATTG CAGACGCCCGCCACCACGCCTGGCTAATTTTTTTGTATTTTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02976.hp2 HG02622.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0246 a0001c0001t0001g0247	2	256	0.0078	-2441	c.36+ others(15): Show c.36+8514_37-9318del	PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SHISAL1_chr22_44238665_44317951	44262702	AGCAGGCT others(2432): Show AGCAGGCTGCCCTGCTGGCCCTAGTGGCCCTGGCGAGAGAGGAGCTGAGC CTGGAACCAGGAGCAGGGCCCACGGGGTGAGGAGGGTCTGCAGCTGGCAG GCCTGGTGGGCTGGTGCCTGCAACCTAAGTGGGAAGATAACAGAGCACCT GGTAATTTGAATAACAATGAAAGCTTCCAGAATGTGGAACATCTGTGACA ATAACCCTTCCCGCAGACGAAAGCAGAGGAGTCATGAGGCACAACACGCC TCATTCCAGGTGAACTGGAGACAATGTGTTCCCCAGCAGCAGCAACAGCT TCTGTTAGTTAGTTGGTGCTGACGGTATGCATGTGGGGTGTGGGGCTGGG AGCCTTCACGTATTTTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTGG AGATGGAGTCTGTGTCGCCCAGGCAATAGCGCAATCTTGGCTCACTGCAA CCTCCGCCACCCGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCCGAGTAG TTAGGATTACAGGCACCCACCACCACGCCCAGTTAGTTCTTGTATTTTTA GTAGAGATGGGGTTTTGCCATGTTGGCTAGGCTGGTCTCGAACTCCTGAC CTCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACTGCACCCGGCCGCCTTCACATATTTTTCTAAGGGATTCTCAC AGGGACCTGAAAGGGGGAGATGCTATTAATCCTACTTTGTAAATGTGTCC CTGCAGACAGTACAGGGACATCAAGGAACCTATCTGGGGCAAGATGGCCA TCCCAAGGAACACTGCCTCAACAAGGAGAAAGAGACTCTGCTGACGCGAT GGAGTTGAGGGTTTTGGGAGAGAGAGATGAGCCTAGATTAACTGGCTGGG CCTGATGCCATCACAGGGTCCTAAGTGAGGAAGGCAGCAGGCTCAGAGTC AGTGGAGGGGATGTGGCCATGGGAGCAGAGGTTGGAGAGATGTCCTTGCA TCTGGAAGGGGCCACAAGCCGAGGAATGTGGGCACCTCTGGGAACTGGAG CAGACAAGGAAACAGACTCACCCCCGTGGCCTCCAGCAGGGCCCCGTGCT GCTGATGCCTTGACATGAAGTGTTCATGAGTCTCCTTTCCAACTGCTGTC CTCTGGATCTGTACAAGACTAAATCCGTGTTGCTTTAAGCTACTGCATTT GTGATAGTTTATTACAGCAGCTACGGGACACTCACACAATACCCAAGAGA GATGTGTGCATTCACTTCACCAAGAGACGTGGATGTGAAGGTTCATAGCA GCTTTACTGATGACGGCCGGAAGGTGGAAACAACCCAAGTTTCCTCAAAA GGTGATGGAGAAACACAGTGTGGTGCGTCCACACAATGCAAAGGGCACAG ATCCAGGCTGGGGCCAAGATGGGAACCTTCATCTTTTGCTTCCTGGCCCA GAGTGCTCTGCCCCAGCACCTGCCTTGTCAAAGCCCTGGTGGACCCATGG GATTGCCCAGTTCTTGCACCTTCACTGGGAGGAAAGCAGAGTAGATGACT CCATTTTACAGTTGCGTAAAGTGAGGCTCAGAGCCATGCTGCCCAGGGAG GAGCTGAAGAGAGACCCGAGGCCTGCTGGGGACCAGATCTTCTCAATGGT GGTTCCTTTTGGCAGCCTCTCTCCAAGCCCAGTGCAGAGCCTGGCATATG GGAGAGCTTTATGGGAGAGTTTGCTGAATAAATGACAGAGAGCAGGTGTG GTGTGAGCTCTGGTGGCTGGACATACCTTCCCATCCCCTGCAAACCTGTC CTCCTTGCAGGGTCCAATGTGCAGGGGTTTGGGGCACAGGTGGGGTGTCC TGACGGATGTAGTCACTCTCAGGGGATGTCAGTCCATGGGGCACCTCGGG CATGGCATGGGAGGCCTCTAATGTGGCCCAAGATGTTTAACCAGAGTCCT ACAGGCCCCAGCCTGAATTGGACCCAGCAGTTCACAAGCTGTGTGACCTT GGGTGAGGTCCCCAACACACACACAAGAGCCCCAGCAATTCACAAGCCGT GTGATCTTGGACGAGGTCCCCAACACACACACCACAGCCCCCAGCAATTC ACAAGCCATGTGACCTTGGACGAGGTCCCCAACACACACACCAGAGGCCC CAGCAATTCACAAGCCACGTGATCTTGGGCGAGGTCCCCAACACATACAC CAGAGCCCCCAGCAATTCACAAGCCACGTGACCTTGGACAACGTCCCCAA CACACACCAGAGCCCCCAAAACACAACCAGATCCCTTAACACACACACAA CAGAGACCCCAACACACACACACCAGAGTGTTGACTTTTCCCTTCTGCTC TCAGTCCCCCCATCTGTAAAATGCGGCTGCTCACAGCCCCCTACTCTGAT TCTACATTGAGGCCTGTGGTACGCAGCCCTAAGATGGCCT	A A	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA19003.hp2 NA18612.hp1 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0057 a0001c0002t0002 a0001c0002t0057	a0001c0002t0002g0290 a0001c0002t0057g0214 a0001c0002t0002g0290 a0001c0002t0057g0214	2	378	0.0053	-2439	c.600 others(19): Show c.600-15456_600-13018del	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
PDLIM3_chr4_185495660_185540507	185520481	TAAATATT others(2431): Show TAAATATTCATATTTTCTAACCCCCAAATGTAGGACACAAGGGCTAATAC ATGCTTGACAAGAGGTCAGAGTATTTAAAATTAGGATTATGCCTTAAAAT CCCATCCTTAGAATAACCATAGTCATAAATTAATACTCATAGACTTGCAA TAGAAGCCTCTGCTAGAGCTACAACTTGGAAAATTACCCTTAAACTCCAA TTCTGGAGAGATGTTAGCAAAACGTGGGCTCCCATCCTGGTCTAAACTCA CTTTGTGCTTAGTAAATACTTGCTGAATTACTTACATGCTGGGGTGACGG ATGCAACCATGATGAAGGATCACTGGGGATTTGGTACTTCGGTCAGATCT ATCTAGTTGGCCTCATTTCTTGCATCTCATATTAACGAAATTGGGTTTAA AAATTAGGAGAAATTCTTGCATGGAAAAATAAGTTGCAAAGGATGCAGTG CAATATTGGATGTGTGCTGTGTAGGGAAAAGGAAATGCAGAGTCCCTTCT GGTTGGTCCAGGTAATGATAAGAGGCTGAGTGGTCAATAAGTGCATGTCT ATTGACTTTAATTCTTAAAAGCACCATATAGTCTCTTTTTCTCATGTGTC ACCTCCAGGTGATAAATTGATGACGGTGGGAGGAAGCAGGTCAGCCTGGG CATCTCTGCAAAAGGCTAGATACAAGTGAGAACTCTACCTCAAGAACTTT CCTTTTTTCTTCCACTATTTTCTTCTAGCAAAGAAAATGTTGACTAGAGG TGTCATTATTCACCAGCCCACCTAGTATGTCAGGGGGAGTCGCCATCAGC ATTCAGATCCCTTCTCATTATATTTATTATCTGTGCCATCCATTTTCTTT TGCTCACTTACCCCAAAGAGCAAAAGTCTTACCTAGCCTAAGTATCCCAC TCAACTTTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGACAGGGTCTTGCT CTGTCACCCAAGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCT CGACATCCTGGGCTCAAGCACTCCTCCCACCTCAGCCTTCTGTGTAGCTG GGACTTACAGGTGTGTACCAACATGCCCTGGTTAATTTTTAAAATTTATA GAAATGGGGTCTCACCATGTTGCCCAGGCTGGTCTCAAACTCCAGGGCTC AAGCAATCTTTTTGCCTCTGCCTCCCAAAGGATTATAGGTGTGAGTCAAT GCGCCTGGCCCCACTCAACTTTCAAGATTACTTTCCATGCAACAGCTGAG AGTGATGGCAGAACACCATTTTGAGAACTGGCTCCCAGGACAGGTCCTGG CAATGTTAGAAAATGCACAGCTCATTTTTAGGCCCTCCAGTTCCTTTCAT CCATTTGTCAGCTATTTATTGAGCTGTGGGCTATTTATTGAGCTGGAGGG ACTCAGAGGGAAGACAACAGCCTCAAGGTTCCTGCCTTCATGAACATATT CTCTGTCCTGCTCACTCCTTTTGGGGCTTATTTTCTCCTACTTTTGCTTT TAGTGGATTTTAGATTCAGACTCTACCTTCCCTTTAGTCAAAACTCTACG ACAACAATCTAATAAACTCATTTCCTCTAAAGATTACATTACTCAGGATC CTTCTTCTCCAGGAGAGATTATATTTTAACTGAAAATAAAGCTTTGTTCC ATTTGTCACGACCCTCGTAATAGCAATGAAGAAGGCATTCCTAGCCTCTA GGATGTCCTATCATGTAGGCAGCTAACTATCTCACCAGCAAGAAACGCCA GGAGACTTTCGGATCCCAGCCTGGGGTGGGGGTAACGTACTGATAATAAG GACAGCTACCACTTACTTGAGTATTTCTATGAATAACTCAATGTGCCAAC TTCTCTGCTTGTATTATTTTATTCTAATTTTTGAGAAGCCCTAGGAGACA CATGTACTGATGTTATTCAACATCTTTTCACAAAAGAAATCAGAGGCTTA TGGAGACAAGTAGAAAACTTGAAGGACAAATTCAGGAGTTGATTTTCTTG AAAGGGGAAATACTGCTAAACATAAATTACAAATACGTTTTCAGTTCCCT TTCATCAGTTATATAGAACAACTACATGCTGGGAATATCTAATCAGTTTA GCAGGAACATGTGTTTCAAAAGGGATGGTAAATTCATGTATCTGTATCTC TAAACCTTTAGAGCTTCTATGTAGAGGTCATAAAATGCTTTTCTTAATTA GATTTATGAGTACATCACAATCAAGATTTGATTTAATTTCAGGTTTTTTG GGCCTTTTGAAAGTAGACATAGATAAGCATCAGATGATTAGTTTAGTTTA TTACAGTTGCCTCCAGAGAAAATCCTTTATCTTTTATAATTCAGCTGTAA CGGCAGAATATCACCATCATCACACTAGGCAACACTCTTTTCTTAGAGTA AATTTAATTACAGAATCCCAGAAATGAGAATTAAAGAAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(255): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG03017.hp2 HG03139.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19084.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0008 others(7): Show a0001c0001 a0001c0002 a0001c0008 a0001c0011 a0001c0012 a0001c0014 a0003c0007 a0003c0016 a0004c0006 a0006c0013	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(14): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0002t0001 a0001c0008t0001 a0001c0011t0001 a0001c0012t0001 a0001c0014t0001 a0003c0007t0001 a0003c0016t0001 a0004c0006t0001 a0006c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(163): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0007g0042 a0001c0001t0007g0188 a0001c0001t0009g0171 a0001c0001t0009g0173 a0001c0001t0011g0121 a0001c0001t0013g0251 a0001c0001t0015g0142 a0001c0001t0017g0204 a0001c0001t0018g0163 a0001c0002t0001g0119 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0227 a0001c0002t0001g0231 a0001c0002t0001g0246 a0001c0002t0001g0248 a0001c0008t0001g0052 a0001c0011t0001g0154 a0001c0012t0001g0179 a0001c0014t0001g0194 a0003c0007t0001g0256 a0003c0007t0001g0257 a0003c0007t0001g0259 a0003c0016t0001g0258 a0004c0006t0001g0044 a0004c0006t0001g0205 a0006c0013t0001g0193	258	410	0.6293	-2438	c.330 others(16): Show c.330+443_330+2880del	PDLIM3	ENSG00000154553.17	transcript	ENST00000284767.12	protein_coding	3/7			chr4	TogoVar
TMEM192_chr4_165065608_165117860	165081465	ACTCCGCC others(2431): Show ACTCCGCCTCATGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAG CTGGGACTATAAGCGCCCATCATCACGCCCGGCTAATTTTTTTTTTTTTG TATTTTTCAGTAGAGATGGGGTTTCACCATATTAGCCAGGATGGTCTCGA TATCCTGACCCCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGTGTCCGGCAGAGACCGAGTCTTGCTCTGTGGCC CAGGCTGGAGTGCAATGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCC CCGGTTCAAGCTATTCTTCTGCCTCAGCCTCTAGGATTACAGGCATGTAC CACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCA TGTTGACCAGGCTGGTCTCAAACTGCTGACCTCAAGTGATCCACCCTCCT TGGCCTCCTATAGTGCTGGGATTACAGGCGTGAGCCACCATGACTGACCA TCTTCTTTTTTTTTTTTTTTTTCAACACAGAGTCTCACTCCATTGCCCAG GCTGGAGTGCAGTGGCATGATCTCGGCTCACAGCAACCTCCGCCTCCAGG GTTCCCGCGATTCTCCTGCCTCACCCTCCCGAGTAGCTGGGACTACAGGC GTGCACCACCACACCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTT TCAGCACGTTGACCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCAC CCGCCTCAGCCTCCCAACGTGCTGGGAATACAGGCCTAAGCCACCACACC CAGACCTGGACATCGTCTATATACAGTAGACTTTCAATTAACATCCCTGT TCCCTGCCCTATGTTCCACTCCTGGGCATCCTGTTCATTTCTGAGTTCCA AGTCTCTCTGGGGCTACACAAAAAGAGTGGCTGCCTCCTTGGCTTTATTT CTCCCCGTGTCCTCTAAATGTAGCCTCTCTGCCCTGTGGTATTGTCTACC GCTCCTTCATCTGTATTCTGTAGCCCACACATTTTCAGAAATCACTCAAC CATCGATGGTCCCTTTCTCCTCCAGTTTTTCTGCTAGTGTGGGTAGGTTG GTCTTTTTTAATCCTTCACTATCCTTTTGGAAGGATCTGGGGAGGGTGAA GGGATAAACGTGTGGCTAGATTTACCTTCTTTCATTGGAAGTTGATTCAA ATTTTCAAACTGAGATGCATTTTCAAAGAAGCATTCCATACAAATTTTAA AAGTAAAAGAGGAATATAAACTGAATTTTTTTTTTTTTGGAACAAAGTTT CACTCTCGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGC AACCTCTGCCTCCCGGGTCCAAGCGATTCTCCTGCCTCAGCCTCCTGAGT AGCTGGGATTACAGGTGCGCACCACCACGCCCGGCTAATTTTTGTATACT CAGTAGAGACAGGGTTTCACCATGCTGACCAGGCTGGTCTGAACTTCTGA CCTCAGGTGATGCACCCGCCTCGGCCTCACAAAGTACTGGGATTACAGGC GTGAGCCACCACGTCCGGCATAAACTGAATTTCATTGCCCCAAAGTTAAC CCCATGAGGTGAAGGGAATACATTTTAAAAAGCTTTCCATTAAGTCATAA GAGAGCAATATTAGGTAAACTCTTCAGTGCTCAGGGGGAACAAGATGAAA TATGAAAAGGGTCAAGGTCAGGAAGAACAGTCTCTGAATTTAATAAGCCC AAAAGTCAACAAAGAGATAATCAACAATTGATACTAAAGTTATTCCTCTA TTTAGGTTAGAATGAAGAAAAAGAGTAAACAAAATAAGAAGGCAGATCAT GGTAAGTGAAAAGTGACAAAAAAAAGTTGTATTTTCTAGGGGAAAGAATC TATTTCACTAAAGACACCTCCGTTTTCATAGTTCTGTACGTATTGAGAAT TATAGACAGTATAATCCAGGCTTCAAGAAACCGAGGGTAAAGGATTCTAG AACTATCAAGATATCATCAGTTTACACTGTGGGACAGAGATAACGATCCC AAGAAGAACAACCTTGGACTTGCTGCTCATTAAGTGTTTGTTTTTGTTTT TTGTTCTTTTTTCTTTTTATTCATTAAGTATTTATATTCCACACTATAAT AAAAAGCAATGTGCATCCTGATTCAACACTGTCACACCTGTGTTGTCACT TCACACCTGTGCCTAACAACAGTTCAGTTTATAAAAGCTAATTTAAAAAT GACACTAATTCAAAAATTGGCCTTACTAAAAGCCAATACATTAAACTATA TTTATTTCAACAACTGTTTTTAAAAGTATCTCTTTCCTTTATCTATAAAG TTTTTTGTTGTTGTTGTTTTGTTTCGAGACAGAGTCTTGCTCTGTTATCC AGGCTGGAGTGCAGTGGCGCAATCTTAGCTCACTGCAAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(277): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19082.hp1 NA19082.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(114): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0052 a0001c0001t0053 a0001c0001t0056 a0001c0001t0057 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 a0001c0001t0074 a0001c0001t0075 a0001c0001t0077 a0001c0001t0078 a0001c0001t0080 a0001c0001t0081 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0010 a0001c0002t0011 a0001c0002t0013 a0001c0002t0014 a0001c0002t0016 a0001c0002t0017 a0001c0002t0020 a0001c0002t0022 a0001c0002t0028 a0001c0002t0029 a0001c0002t0031 a0001c0002t0032 a0001c0002t0037 a0001c0002t0039 a0001c0002t0040 a0001c0002t0042 a0001c0002t0047 a0001c0002t0048 a0001c0002t0049 a0001c0002t0054 a0001c0002t0055 a0001c0002t0058 a0001c0002t0059 a0001c0002t0060 a0001c0002t0061 a0001c0002t0062 a0001c0002t0063 a0001c0002t0067 a0001c0002t0068 a0001c0002t0070 a0001c0002t0073 a0001c0002t0076 a0001c0002t0079 a0001c0002t0082 a0001c0002t0091 a0001c0002t0097 a0001c0002t0103 a0001c0002t0104 a0001c0002t0126 a0001c0002t0127 a0001c0002t0128 a0001c0002t0129	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(264): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0163 a0001c0001t0001g0190 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0284 a0001c0001t0001g0292 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0316 a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0020 a0001c0001t0002g0124 a0001c0001t0002g0132 a0001c0001t0002g0156 a0001c0001t0002g0167 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0278 a0001c0001t0002g0283 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0291 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0302 a0001c0001t0003g0011 a0001c0001t0003g0271 a0001c0001t0003g0277 a0001c0001t0003g0282 a0001c0001t0004g0006 a0001c0001t0004g0159 a0001c0001t0005g0170 a0001c0001t0005g0174 a0001c0001t0005g0175 a0001c0001t0005g0177 a0001c0001t0005g0245 a0001c0001t0005g0246 a0001c0001t0005g0313 a0001c0001t0008g0093 a0001c0001t0008g0110 a0001c0001t0008g0121 a0001c0001t0008g0155 a0001c0001t0008g0309 a0001c0001t0009g0127 a0001c0001t0009g0231 a0001c0001t0009g0232 a0001c0001t0009g0233 a0001c0001t0009g0314 a0001c0001t0011g0242 a0001c0001t0011g0268 a0001c0001t0012g0101 a0001c0001t0012g0104 a0001c0001t0012g0105 a0001c0001t0012g0193 a0001c0001t0013g0111 a0001c0001t0013g0116 a0001c0001t0014g0092 a0001c0001t0014g0112 a0001c0001t0014g0199 a0001c0001t0015g0065 a0001c0001t0015g0087 a0001c0001t0015g0100 a0001c0001t0015g0138 a0001c0001t0016g0288 a0001c0001t0018g0097 a0001c0001t0018g0107 a0001c0001t0018g0169 a0001c0001t0019g0235 a0001c0001t0019g0236 a0001c0001t0019g0237 a0001c0001t0020g0059 a0001c0001t0020g0060 a0001c0001t0021g0053 a0001c0001t0021g0054 a0001c0001t0021g0057 a0001c0001t0022g0023 a0001c0001t0022g0056 a0001c0001t0025g0133 a0001c0001t0025g0160 a0001c0001t0026g0134 a0001c0001t0026g0147 a0001c0001t0027g0281 a0001c0001t0027g0289 a0001c0001t0028g0158 a0001c0001t0029g0096 a0001c0001t0030g0123 a0001c0001t0030g0269 a0001c0001t0033g0125 a0001c0001t0033g0129 a0001c0001t0034g0108 a0001c0001t0034g0119 a0001c0001t0035g0146 a0001c0001t0035g0285 a0001c0001t0036g0135 a0001c0001t0036g0162 a0001c0001t0037g0064 a0001c0001t0038g0164 a0001c0001t0038g0168 a0001c0001t0039g0165 a0001c0001t0040g0052 a0001c0001t0041g0028 a0001c0001t0041g0115 a0001c0001t0042g0106 a0001c0001t0052g0275 a0001c0001t0053g0290 a0001c0001t0056g0280 a0001c0001t0057g0131 a0001c0001t0064g0273 a0001c0001t0065g0157 a0001c0001t0066g0240 a0001c0001t0069g0068 a0001c0001t0071g0128 a0001c0001t0072g0152 a0001c0001t0074g0143 a0001c0001t0075g0109 a0001c0001t0077g0122 a0001c0001t0078g0126 a0001c0001t0080g0153 a0001c0001t0081g0161 a0001c0001t0083g0312 a0001c0001t0084g0090 a0001c0001t0085g0095 a0001c0001t0086g0113 a0001c0001t0087g0103 a0001c0001t0088g0144 a0001c0001t0089g0071 a0001c0001t0090g0063 a0001c0001t0092g0102 a0001c0001t0093g0234 a0001c0001t0094g0247 a0001c0001t0095g0178 a0001c0001t0096g0176 a0001c0001t0098g0244 a0001c0001t0099g0055 a0001c0001t0100g0166 a0001c0001t0101g0099 a0001c0001t0102g0310 a0001c0001t0105g0262 a0001c0001t0106g0263 a0001c0001t0107g0088 a0001c0002t0001g0004 a0001c0002t0001g0027 a0001c0002t0001g0031 a0001c0002t0001g0033 a0001c0002t0001g0036 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0072 a0001c0002t0002g0007 a0001c0002t0002g0034 a0001c0002t0002g0041 a0001c0002t0002g0045 a0001c0002t0002g0075 a0001c0002t0002g0081 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0186 a0001c0002t0002g0189 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0221 a0001c0002t0002g0226 a0001c0002t0002g0279 a0001c0002t0003g0008 a0001c0002t0003g0049 a0001c0002t0003g0085 a0001c0002t0003g0224 a0001c0002t0003g0303 a0001c0002t0004g0005 a0001c0002t0004g0188 a0001c0002t0004g0223 a0001c0002t0010g0078 a0001c0002t0010g0205 a0001c0002t0010g0206 a0001c0002t0010g0239 a0001c0002t0011g0030 a0001c0002t0011g0042 a0001c0002t0013g0195 a0001c0002t0014g0047 a0001c0002t0016g0213 a0001c0002t0016g0228 a0001c0002t0017g0222 a0001c0002t0017g0225 a0001c0002t0017g0227 a0001c0002t0020g0184 a0001c0002t0022g0062 a0001c0002t0028g0212 a0001c0002t0029g0220 a0001c0002t0031g0201 a0001c0002t0031g0238 a0001c0002t0032g0203 a0001c0002t0032g0204 a0001c0002t0037g0032 a0001c0002t0039g0254 a0001c0002t0040g0061 a0001c0002t0042g0217 a0001c0002t0047g0256 a0001c0002t0047g0306 a0001c0002t0048g0173 a0001c0002t0048g0307 a0001c0002t0049g0264 a0001c0002t0049g0267 a0001c0002t0054g0080 a0001c0002t0055g0198 a0001c0002t0058g0229 a0001c0002t0059g0218 a0001c0002t0060g0219 a0001c0002t0061g0082 a0001c0002t0062g0043 a0001c0002t0063g0029 a0001c0002t0067g0035 a0001c0002t0068g0230 a0001c0002t0070g0260 a0001c0002t0073g0315 a0001c0002t0076g0074 a0001c0002t0079g0207 a0001c0002t0082g0194 a0001c0002t0091g0150 a0001c0002t0097g0249 a0001c0002t0103g0037 a0001c0002t0104g0048 a0001c0002t0126g0086 a0001c0002t0127g0308 a0001c0002t0128g0202 a0001c0002t0129g0266	280	328	0.8537	-2438	c.677 others(17): Show c.677+1683_678-1670del	TMEM192	ENSG00000170088.14	transcript	ENST00000306480.11	protein_coding	5/5			chr4	TogoVar
TRIM49_chr11_89792655_89813575	89793565	AAGGCTGG others(2431): Show AAGGCTGGTTCAACATACGCAAATCAATAAATGTAATCCAGCACATAAAC AGAACCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAGGC CTTTGACAAAATTCAACAGCCCCTCATGCTAAAACCTCTCAATAAATTGG GTATTGATGGGACGTATCTCAAAATAATAAGAGCTATTTATGACAATCCC ACAGCCAATAAATATCATACTGAGTGGGCAAAAACTGGAAGCATGCCCTT AGAAAAGTGGTGCAAGACAGGGATACTCTTTCTCACCTCTACTATCCAAC ACAGTTTTGGAAGTTCTGGCCAGGGCAATCAGGCAAGAGAAAGAAATAAA GGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTTTGCAGATG ACACGATTGTATGTTTAGAAAACCCCATCGTCTCAGCCCAAAATCTCCTT AAGCTGATAAGCAACTTCAGCAAAGTCACAGGGTACAAAATCAATGTGCA AAAATCACAAGCATTCTTATACACCAGTAACAGAGAAACAGAGAGCCAAA TCATGAGTGAACTTCCATTCACAATTGCTTCAAAGAGAATAAAATACCTA GGAATCCAACTTAAAGAGACGTGAAGGACCTCTTCAAGGAGAACTACAAA CCACTGCTCAATGAAATAAAAGAGGATACAAACAAATGGAAGAACACACC ATGCTCAGGGATAGGAAGAATCAATATCATGAAAATGGCTATACTGCCCA AGGTAATTTATAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTC TTCACAGAATTGGAAAAAACTACTTTAAAGTTCATGTGGAACCAAAAAAG AGCCCTCACAGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCA TCACACTACTTGACTTCAAACTATACTGCAAGGCTACAGTAACCAAAACA GCATCGGACTCGTGCCGAAACAGAGACATAGACCAATGGAATAGAACAGA GCCCTCAGAAATAATGCCACATATCTACAACCATCTGATCTTTGACAAAT CTGACAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGC TGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCT TACATCTTATACAAAAATTAATTCAAGATGGATCAAAGACTTAAATGTTA GACCTAAAACCATAAAAACCCTAGAATTAAACCTAGGCAATACCATTGAG GACATAGGCATGGGCAAGAACTTCATGTCTAAAACACCAAAAGCAATGGC AATAAAAACCAAAATTGACCAATGGGATCTAATTAAACTAAAGAGCTCCT GCACAGCAAAAGCAACTATCATCAGAGTGAACAGGCAACCTACAGAATGG GAGAAAATTTTTGCAATCTACTCATCTGACAAAGGGCTAATATCCAGAAT CTACAAAGAACTCGAACAAATTTACAAGAAAAAACAAACAACCCCATCAA AAAGTGGGTGAAGGAGATGAAAAGACACTTCTCAAAAGATGACATTTATG CAGCCAACAGACACATGAAAAAATGTTCTTCAACACTGGCCATCAGAGAA ATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGATTGGC GATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAG TAGGAACACTTTTACACGTTGGTGGGACTGTAAACTAGTTCAACCATTGT AGAAGACAGTGTGGCGATTCCTCAAAGATCTAGAACTAGAAATACCATTT GATCCAGCCATCTCATTACTGGGTATATACCCAAAGGATTATGAATCATG CTGCTATAAAAACACATGCACACGTATGTTTATTGTGGCACTATTCACAA TAGCAAAGACTTGGAACCAACCGAAATGTCCAAAAATAAGAGACTGGATT AAGAAAATGTGGCACATATACAACATGGAATACTATGCAGCTATAAAAAA GGATGAGCTCGTGTCCTTTGTAGGGACATGGATGAAGCTGGAAACCATCA TTCTCAGCAAACTATCACAAGGACGAAAAAACGAACAGTGCATATTCTCA CTCATAGGTGGGAATTGAACAGTGAGATCACTTGGACACAGGAAGGGGAA CATCACACATAGGGGCCTGTTATGGGGTGGGGGGAGGGGGAGGGATAGCA TTGGGAGATATACCTAATGTAAATGAGGAGTTAATGGGTGCAGCACACCA ACATGGCACATGTATACATATGTAACAAATCTGCACGTTGTGCACATGTA CCCTAGAACTTAAAGTATAATGAAAAAAAAAATCAAACTTTCCAGAGAAG ACATCTCCAGAGAAGACACACTGAATATGCATCTGCTAGGCTTCAGGCAC CCAATAATTACTGCTTACCTAGATATCCGCAAATCCTCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01123.hp2 HG01192.hp1 others(15): Show HG01081.hp1 HG01123.hp2 HG01192.hp1 HG02004.hp1 HG02015.hp1 HG02071.hp2 HG02129.hp1 NA18612.hp2 NA18939.hp1 NA18954.hp1 NA18955.hp1 NA18961.hp2 NA18965.hp1 NA18977.hp1 NA18994.hp1 NA19004.hp2 NA19065.hp1 NA19070.hp1	a0002 a0013 a0002 a0013	a0002c0001 a0013c0019 a0002c0001 a0013c0019	a0002c0001t0001 a0013c0019t0001 a0002c0001t0001 a0013c0019t0001	a0002c0001t0001g0001 a0002c0001t0001g0018 a0002c0001t0001g0079 others(8): Show a0002c0001t0001g0001 a0002c0001t0001g0018 a0002c0001t0001g0079 a0002c0001t0001g0084 a0002c0001t0001g0085 a0002c0001t0001g0086 a0002c0001t0001g0087 a0002c0001t0001g0088 a0002c0001t0001g0102 a0002c0001t0001g0103 a0013c0019t0001g0104	18	252	0.0714	-2438	c.21 others(11): Show c.2127_*4564del	TRIM49	ENSG00000168930.13	transcript	ENST00000329758.5	protein_coding		4089		chr11	TogoVar
DLGAP2_chr8_732628_1713476	1013791	CGCCTCCA others(2429): Show CGCCTCCACTGCGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGAG ACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACGACGC CTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGA CCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTCCAC TGTGTGTATGACCAGGACAGACGGCGCCTCCACTGTGTGTGACCAGGACA GACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGC GTGAGACCAGGACAGACGATGCCTCCATTGTGTGTATGACCAGGACAGAC GACGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTG TGTGACCAGGACAGACGGCGCCTCCACTGCGTGTGTGACCAGGACAGACG GTGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTCCACTGTGTGTAT GACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGGTG CCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCACTGTGTGAGACCAG GACAGACGATGCCTCCATTGTGTGTATGACCAGGACAGACGACGCCTCCA CTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGACCAGG ACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTCCATTGTGT GTATGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGA CGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTG ACCAGGACAGACGGTGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGC CTCCACTGCGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGAGACC AGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACGACGCCTC CACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCA GGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTCCACTGT GTGTATGACCAGGACAGACGGCGCCTCCACTGTGTGAGACCAGGACAGAC GGCGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCACTGTGTGTGA CCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCC TCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGAC CAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTCCACT GTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGAC AGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTG TGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACA GACGGCGCCTCCACTGTGTGTATGACCAGGACAGACGACGCCTCCACTGT GTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGAC GACGCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTG TGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGACGC CTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACC AGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCCA CTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGAC AGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTG TGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGAT GCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGT GACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGATG CCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGAC CAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACGATGCCT CCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAG GACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCA CTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAG ACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTG TGTATGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGA CGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGAT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0017 a0002c0001t0003g0017	1	35	0.0286	-2436	c.73+ others(19): Show c.73+105836_73+108271del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
GPR161_chr1_168074542_168141930	168119802	GTGGGTGC others(2427): Show GTGGGTGCAAGCCCCAAGCCGTGGCAGCTTCCACGTAGTGTTGGGCCTGC AGGTACACAGAAGACAAGAGATGAGCATTGGGAACCTCTATCTAGATGTC AGAGGATGTATGGAAATGCCTGAATGTCCAGGCAGAAGTCTGCTGCAGGG GCAGAGCCCTCATGAAGAAACTCTCCTAGAGCAGTGCAGAAGGGAAATGT GGGGTTGGAGCCCCACACGCTAGGGGCACTGCCTAGTGAAGATGTGTGAA GAGGACCACCATCCTCCAGACCCCAGAAAGATAGATCCACTGACAACTTG CACCATGCACCTGGAAAAGCCGCAGGCACTCAACACCAGCCCATGAAAGC AGCCACAGAGGCTGTACCCTGAAGAGCCACAGAGGTGGAGCTGCCCAAGG CTATGGGAGCCCACCCCTTGCATCAGCATGCCCTGGATGTGAGACATAGA GTCAAAGGAGATTTTGGAGCTTTAAGATTTAATGACTGCCCAGCTGGGTT TCAGACTTGCATGGGGTCTGTGGTCCCTTTGTTTTGGCCAATTTCTCCCA TTTGGAATGGGAACATTTACCCAATGCCTGTACCCCCATTGTATTTTGGA AGTAACTAACTTGCTTTTGATTTTACAGGCTCATAGGCAGAAGGGACTTG CCTTGTCTTACGTGAGACTTTGGACTTGGACTTTTTGGTTAATGCTGGAA TAAGTTAAGACCATGGGGGACTGTTGGGAAGGGATAATTGGTTTTGAAAT GTGAAAAGGACATTAGATTTGGGAGGGGCCGGGGGAAGAATGATATGGTT TGGCTCTGTGTCCCCACCCAAATCTCATCTCGAATCATAATCCCCACATG TCGAGAGAGGGACCTGGTGGGAGGCGATTGGATCATGGAGGCGATTTCCC TCATGCTGTTCTCGTGATAGTGGGGGAGTTCTCAGGAGATCTGACGGTTT TAAAAGTGGCAGTTTCCCCTAAGTGCTCACTCTCTCCTGCTGCCTTGTGA AGAAGGTAGTCACTTCTACTTTGCCTTCTGCCATAATTATAAGTTTCCTG AGGACTCCCCCGCATGCAGAACTGTGATTCAATTAAACCTCTTTCCTTTA TAAATTACCCAGTCTCAGGTATTTCTTTATAGCAGTGTGAAAATGAACTA ATACAGATGGTAAACTTTATGTTATGTGTATTTTACCATAATTTAAAAAT TTTGGAAAAAAAACATATCTAGGCATCTTCTGTTTAACTTCTCTGTCCAA AGGGATTGGATGAAGGAAGCCAGCTATTTCCACAGCTTCTCACCCATTGT TAGAGATGAGAAGATCCTTAGAAAACATCTAGTCTAACCTCCTACTGTAG CAGATGAGGAAACTAAGACTTTGTCTGGCATTAATTATTGCTCTCAAGGG ACTAATACAGCAGTGACTTCCAAGGCTGAACCCACTAAATAAAACCATTA ATCATGCTGCACCCACCCCAGCAAGTGGAACAACTCCCCAGGTGACATGG TAAAACAGAATTCTACTTTTTGTGAATCAACCCCCTCTGCAGTTTTTGTT GCGGCATGTAGGAAAATGTGAAGCACATAATCCTAAGCAAAGCTGGGCTC TCAACCATAGACTGTCGGTGAATTTTTTAAAAGGGCAGCTGGCCTCTCTC CCAGTTCTCCATCTCCTATATTAAAAGCTGTCTTCACCCCTTCATGTTTC CCAGTCAGCACAGACAGTGGAGGTCCACGTCAACCTCCTAGAAAATCCAC AAGCAACTAGCAGGACTCATGATGAAGACAGCTCACTCAGGGGAGAGTCT CAGGCCCCAAGAGTTAAGTGCTTCAGGAATAGAGAAGAAAAAACAGCTGG GGGTCCACACAGCTTTCTGTGACAGCTTTAGCAACCTGAAGATTGAGCAA GTCCTCATAGAAATCACTGTTTCAGCTGCACATTAGGCAGGGATTTTTCC TCTGGCAGCCCGCCGGCTGCCCCAGCCTCAACCACGTCATTCCCTCCGTG GGAGAGGGCAGAAATTCCAGCCCTTCCAGAGCAGGCTTGAGGAAGCCTCC ACAGACACTGGCTCATGGCCATCCTGCCTGGAACTGGGCTCCCAGCAAAT CCCTAAGGTGAAGCTGGGTCACAAAAGATCAGAACTACCCAAGGCTGTTC CAAGTCTGTTTGGCGCTGCTGCCAGAAGTGGCTGTGGTGCTTCAATAGGC AACTGTGCCAGGAGCCCATGCTCAGATGGAGAGAAGCCAGTGCCACTCCC TGGAGCTCCAGACTCCTACCTCCGACCAAAATCTCCACCTGCATGTCACA GGCATTGCAAGACTGTGTCCAAAACCAGATTTTGAGTCTTTCACCTCTCA AGCTGCTCTTCCTGTGTTCCTCCTCATTCCACGCGTGCCATCCCATCCTT CCAGTTGTGCAGGCCCTAGACTACGGAGTCACTCC	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02132.hp2 HG00558.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0244 a0001c0001t0001g0245	2	338	0.0059	-2434	c.-45 others(19): Show c.-45+14503_-44-14909del	GPR161	ENSG00000143147.15	transcript	ENST00000682931.1	protein_coding	1/5			chr1	TogoVar
SOD2_chr6_159664069_159698241	159665225	TGCCTGTA others(2425): Show TGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAG GTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAAACCCATCCCTAC TAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAACTACTCG GGAGGCTGAGGCAGGAGAATTGTTTGAACTCGGGGGGCAGAGGTTGTGGT GAGCCGAGATTGAGCCACTGCACTCCAGCCTGGGCAAAAAGTGAAACTCC ATCTCAAAAAAAAAAAAAGAGTAACCTAAATTCTGAGTTCAATCAATTAA GTGTTACCACTCACTGAGGAGAAAGACTCAGAGATGAGCAGATTTGGGAA CTGGCAGAATCCAGAGTTCACTTTGGAGCAAGCGAGTTTTGAATGCCTAT TAAACACTCCAGTGGAGCAGTGAGATAGGGTGTATGAACTACGAAGTCCA AAGAGTGGAGGCTGCAGCTGGAACTGGAGTGGGGAAGAGTGTAAGTCAGT ACTCTTTTGACTGCAAGAGACAAAAATTCAACTCAAGTAGCTTAAGCAAA ATAAGTAACTAAACAAAAATTGAATACAATAATATTAGTGAACTTTCAGC TCACATAACCAGTAAACCCAAGGATGGGCTTCAGGCCCAGCTGGACCCAG AGACTCATATAATGCCATGGATGATGCCTCTCTCCATTGCTTGGTTCTTC CTTCCTCGATATACTGGATGAGGTGGCACCATCTCATAGGTCCTCTACAC AGGAGTCCAGAGAAAGGGGAAAACACTTTCCCACAGCCCATATGCTGAGG CTTCAGGACAATTCTCATTGGCACAAATTGAGTCATAAGCCCATCTCTGA ACTTATCATGCATTCAAAAAATAAAAGGAGAACATGACTAGTGTGGGTTG TGAGCCAGTGCAATGGGTCAAACTGGGGAAAGGAAGCCACAGAGCACAGA GATAAACAATCTTACCAACCTCTGATGAAGGGAAAAGTAGTTGCTCCCCA AAAGAATAAGTAGGGTACTTTATCAGACAGTGGGGATGGCTGCTAGATGA TGAGTAACGTTAGTTATTGTAACAAGCAAATCCCAACATTTCTATGTCTG AACACATTAAAATGCTATTTCCTGCTCACATAATTTTTCTTTTTTGAGAC AGGGTCTTGCTGTGTCACCCAGGCTGGAGGGCAGTGACATGATCTCAACT CACTGCAGCTTGGCTCTTCCTGGCTCAAGCCACACTCCCACCTCAGCCTC CTGAGTAGTCGGGACCACAGGCATGAGCCACCATGCCCAACCACTCACGT AATCTGCGTGTTCTTGATCGGGAAGCTTTCTTTGAAGCAGTGATTTGAGG AAACGGGTTTCTTCTCTTCTGTATCTGTGCCAGCTTCAACAAGTGGCTTC TAAATTTCTAACAATAAGCCAGGCATGGTGGCTTATGCCTGTAATACCAG CACTTTGGGAGGCTAAGGCGGGCAGATTGCTTGAGCTGGGGAGTTCGAGA CCAGCCTGGGAAACTTGGCAAAACCCCATCTGTATGTAAAAAATAAGACA AAAATAAAATAAAAAGTTAAAAACAAACAAAAAAATAAAATAGTAGCACT CACTCCTCTCAAGCCAGCAGAAAGGGGTGAAGAAGATTAAGAAGACACAC CCATTTCTTCACCTCTGGTCACATACAGAACTAGCCATGCGGCCCCACTA TGTGAAAGGAAGTCTTGCAAAAGTCATACCTGGCTGGGCAACAGCTCCCA GCAGCCACTCTGCACAATGGGAGGGAAACCTAAGCCTTTGGTGGACAGCA GCCATGTCTCCCACAGGTGCTGAGCAGACAAGGAGCAGATGTCCATCTCT AGCATCCATCCAGCAGTCCTGCACAGGACGCAGAGTGATCAGCCTGGGCT TACTCCGTGCTTTTCTGGGCTGGTCTCTCTCACAGTGAAGCTCCATGTTT ATGATTCTTGGCCCTAGATGTGTATTAGAATCACTTGTTGCCGGGCGTAG TGGCTCATGCCTGTAATCCCAACACTTGGGAGGCTGAGATGGGAGGATCA CTTGAGCTGAGTTCAAGACCAGCCTGGGCAACACAGATAAACCTCATCTC TACTAACATTAAAAAAAAAAAAAAAATCAGCTGGGTTTGGTAGCACATCC CTGTAGTCCCACCTACTTGGGAGGGGTGGGCTGAGATGGGAGGATAACTT GAGCCCAAGAGGTTAAGGCTGCAGTGAGCCCTGATTGTGCCACTGCACTC CAGCGTGGGTGACAGAGCAAGGCCCATATCCATGTTCAGACTGATTGAAT CAGTCTTTCATGGGTAGAGCCTGGCATCATTATTTGGGTAAAACTCCTTT GAAGTGGCTCTAATGTGTACCCAGGAATGAGAACCATTTGGCTTAAATAA AAGAAAGACATTTGGCTGGGCACGGTGGCTCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(116): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02486.hp2 HG02615.hp1 HG02647.hp2 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03669.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp2 NA18951.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18975.hp2 NA18981.hp1 NA18982.hp2 NA18986.hp1 NA18991.hp2 NA18993.hp1 NA18995.hp1 NA18999.hp1 NA19001.hp2 NA19002.hp1 NA19005.hp1 NA19006.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19062.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19077.hp1 NA19078.hp1 NA19080.hp1 NA19084.hp2 NA19085.hp2 NA19090.hp2 NA19091.hp1 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 others(29): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0094	a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0038 others(44): Show a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0008g0006 a0001c0001t0008g0136 a0001c0001t0012g0012 a0001c0001t0016g0015 a0001c0001t0017g0019 a0001c0001t0021g0041 a0001c0001t0022g0040 a0001c0001t0023g0161 a0001c0001t0023g0164 a0001c0001t0024g0039 a0001c0001t0039g0155 a0001c0001t0040g0138 a0001c0001t0041g0159 a0001c0001t0042g0139 a0001c0001t0043g0134 a0001c0001t0044g0140 a0001c0001t0045g0141 a0001c0001t0046g0163 a0001c0001t0047g0133 a0001c0001t0048g0142 a0001c0001t0049g0143 a0001c0001t0050g0144 a0001c0001t0051g0145 a0001c0001t0052g0158 a0001c0001t0053g0146 a0001c0001t0054g0092 a0001c0001t0055g0147 a0001c0001t0056g0148 a0001c0001t0057g0149 a0001c0001t0058g0150 a0001c0001t0059g0162 a0001c0001t0060g0151 a0001c0001t0094g0152	119	362	0.3287	-2432	c.14 others(13): Show c.14836_*17267del	SOD2	ENSG00000291237.1	transcript	ENST00000538183.7	protein_coding		3843		chr6	TogoVar
TPTE2_chr13_19417877_19566532	19503834	GGGTTCAC others(2424): Show GGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTACCTGGGACTACAG GCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGG GTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGATCTCGTGATCCA CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGC CCGGCCTCTATATTGATTTATTTATGTCTCACAGTTCACTGATAGCTCCA CTCCAGGGTACTGATTTGAATTTAGACTTGGCAGCGCTACAGAATTTAAA TATATATATGTATCGTCCAACACCAATATGACATCCTAGACTTCACTTTC TGGTTTGAATTACTCACAAGCGATGTTTAGTTCTTTACAATTGAAGGAAG CACAAACTAAGCATTTGGTGGTTTATTTCAAATTCAGCTGCAGTTTCTAT GTACAAATCCCCTTGACCTCATCTCATTTCCTGACACTAAAATCCCTTCA TCAGTGCCTTCTTTTCACCATCATGGGTGTCTTCTCTGCTCTCACACAGG GTCAAGAAACTGCCCCATACAATGTGATGATGGGTGTGGGCTTGTAGTGT TAGCCTCACATGGTGGTAGAGCTCTGGGTGTGAGGAACCCTGCCAGGGCC ATTAGCTCTGTTTTTTTTCCCCGAGGGCTCCACTGCTCCCTGTCCACTGC TACTCGCTTGTTGCTCTGCATAGGGTTTTCTTCCCTTGGTCCACTCTAGT ATGTCTCATACACAGGAAATCTGACTTTCCTAAGTATGTGCCTGCTACTA AGGGTGACAAGACAATAACAAGAAGTTTCCCTTTTTTGCCCTGTTCCTTT TTTATCCAATTTAATCAAAAAGTTGGATAAGAGACCTGCAGGGCCTATAG TGAGGAGATTTATAAATGGTGTAAAAGACATTCTGTATGGCCATGGATGA TCCTGAGAGTAAAGCACATAATCTTCATCCCTCTTTCTGTTGTTTCTCTC TCTCTTTTCTCTTTCTCTCCCTTTCTCTCTCTCCCTGTGTTTGTGTGTCT AGATAGACAGAAGTAGTATATCTGCACATACATTTCTTTACATATTTGTG TACACATATTTTATAATTCACATTTCATTGGTGGTTCTATCACAGGTCAT TGATGTCAATTCTGTATGCAGGCTAAAGGAATATAAAAGTAGATAGTTGG ACACACATATAATTCTAAACTTACTTTTTGGATCAAACAGCTACAGTTAC TCTATAATGTACTATCTGGTTGATATTTAAATATTCATGTGTATATCACT AATTCAAACTAGATGTATCCTTTTTTTTAGGCGGATTCTCACTCTCATCG AGGCTGGAGTGCAGTGATGCGATCTTGGCTCACTGCAACCTCCACCTCCC AGGTTCAAGCAATTCTCCTTCCTCAGCCTCCTGAGTAGATGGGATTACAG GCATGCACCACCACACCTGGCGAATTTTTGTATTTTTAGTAGAGACAGAG TTTTGACATGTTGGTCAGGCTGGTCTCAAATTCCTGGCCTCAAGTGATCT AGCTGTCTTGGCCTCCCAAAGTGCTGGGATTACAGATATGAGTCACCATG CCTGGCCAGTGGCATTTATTTCTAATGTAACTGCAGTCTGTAAGGAAACA TGCCTCTTACCCCATCTAAATTCTTGATTCCTAAGTCCTTCTGTCACTTC TTTACTTTCACCCATCATGGCTGTCTTTCCTGCCCAGAAGATATGACCAT GTAGCTGTAGCCCTGAGTCAGAACTCCCTACAAAATGATTGTGGGTTTGG GTTTCGTTTGGGGCACCAGCCTCACATGGTGGTAGAACTCTAGAGGGTGA GGAACCCATTAAGGTTTCATGAACTCTGTTCTTTTTGCTGAGTGCTTCAC TCCTCCCTGTTACCTGTTACCTCCTCATTGCTCCAAATAGGATTCTCTCT CCCTTTGGCCCACTCTAGTAGTAGGAGAGTCTCATAAATGGAAAACCTCA GAGGTTCGTTCCTAAGGGATTGGATACCACCAACTTAGAGTGACAAATAT ACTAAGAGGAAGAAGCATCCCTTTCATGACTTCGTCCTCTTTTATCCAAT TTGGTCTGAAAAAAAAAAATAGAAGGTTATCTATAGATCCTACAGTGAGA AGATTTAGACATAGTGTCAAAGATACTCTGTATTTCCAAGGATATGCCTG ACAGTGAATTTTACAAATATCAGCTTCTCTTTCTCTGTCATTGTTTTATG TTTCTGTGTGTGTATGTGTATGCATGAGTGTATGTTATGTGTATATATGT ATATATACACTTACGTGTATATAAATCTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCACCTCCCA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0220 a0005c0005t0001g0220	1	220	0.0045	-2431	c.-43 others(16): Show c.-43-2988_-43-558del	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding	3/22			chr13	TogoVar
ARID3B_chr15_74536220_74603131	74600701	AGATGCCC others(2423): Show AGATGCCCTTCTTTGGGCTCCAGGGCCATGGCTGGGATCTGGGGGCAGAT GAGACAGAGGCTGATACCATGGGGGTCAGAGAGGCAGGGCAGGGGGTAGC TTCCGCTCTGTCCAGGGATGGGGAGGCCAGCTCAGGAATCCATTTAGAAC CAGTAAAAGCCTGAGCTGGAAGGGCCTTTCTAGCCTTCTGTTTCCCCTCT ACAACCTGCAGATGGGAAGGCCACGGGACAGAAAGGAACTGGGCAGAGGT CACTCCCCACCCCATCTAGAGGGTCCACATATGCTACCTTCAGGGGCTGC AAGGTGGAGGTGGCTGGAGGCTCCTGTCCTGGTGCTGGAGCCCTTGGTGC TCAGACCTGCAGCAGCTCCCACTCCCTGAGGACACAATTCTCAGCCTGAC CATCAGAACTCTTAGGGTCTCCTAGACCCCATCGGCGGCTCTGACCCTCT TTTATGAAAGCACCCAAAGAGCACCTGAGGCAAAGGACAGCATCCCCCAC CCTATTGAGCTCCTCATTGCAGGAGCTCAAAGATGATGACCTCAGTCAGA ATGAAATGGTATTTAAGCACAAGCCAGTAGCTGTTGCCATCCTGGGGAAT GTGCTGTATTGTCTGTCACTGGCAGCATTGCATTACATCAAACTATTGCC TGAATATCACAAGAAGTGCAAACAAAGCCTTATGGATTGAACATTGCATA AAATAGGCCTTGTGTGTGGCGCAGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCCAGGTGGGTGGACCACCTGAGGTCAGGAGTTCAAGACCAG CCTGGCCAACAAGGAGAAACCCCATCTCTATTAAAAATACAAAATTAGCC AGGTATGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCA GGAGAGTCGCTTGAACCCAGGAGGCAGAGGTTGTGGTGAGCCGAGATCAC GCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAA AAAAAAAAAAAAGGCTTTGGGACTAAAGCCCGTATGCAGCCGCCCCTGGG CACATATACGTGGTTTTATGACTTTGGTACTGACTCAGCCTAACTGGACC CCAGATACAGGAGAAACTGAGAAGGACGGAGAACATAAGCACTGTCCCCG GTGCACTGTGTCCCATGTCATCCTCACATCAATCCTGTGTCATAGGTACT GTCCGTGTTTCCATTTTACAGAGGATAGTGAGGCTTAGTGAAGGCAGGAC TTGCTCATGCTCGCCAAGCTGGGGAGTGGTGGAGAGTGAAGTGTAAGACT TCTCGGTTCTACTGCCATTCTCCTTCCATCCATTGCTCCAGGCCCAGGGG CCCAGATGGTCTGATTCCCTGTGCCCCACAGCCCACCCTCCTGCTGCTGC TTTCCCTGGCTTCCCCTCTTCAGAGAGAAGAAGGCAGACCAGGAGATAGG TCAGGCCTCAGGCCGCTGCTCAGCCCCACCCATCCTAACCCCTGAGGGGA TGAGAGGGCAGCCTCCACAACGTGTCCCTAAATGCCCCTGCCCCCCTGCC CCCTGCCCCAGGTTCTCAGAGAAGAGGAAGAGCTGTGGGGGCTGAGGAGC ATCTCTGGGAGGGAGGGTGGGGTTTCTCCCCAAAGAGCCCCTCAGATGCA GGCACCCCTCACCCCGCAGTCACTGCTTCTCTACCAGCTCCTTTTCAGCT GCTGCTGCAGCCTCAGTTTCTCAGGGAGGCTCTCCACCAGCTTAGAGGTG GGCGGGGGGAAGCAGTGAACACGTTCCAGGCTGAGCCCTCCCAGTGGGCA GCAAGGGCTTGGGAGGAACTTGAGTGACGGAGTGTGGGGAAGGAAAGGTC AAGGCCTGCATGGGCACCATGCGGCAGGCAGCAGGGATCGGGCATGGGGG AGCCTGTGGGAGCCATGCAGGCCAGTCGGAAGCACAGTGCAGGGGGGCAG CTGCTGAGCACCTGGTCCTGGGCAGCCTCCAGGGCCCACTGCTCAGCTCT CAGCTCTGAGTCTCAAGCTTCCAGCACATTGCAGACCTTCTCGAGCTCAG TCTGCATCTCAGCCAGCTCTGAACCCACCTCCTGCAAAGAAGTCTGTGAT GGAGGAGGGTGGGGCTGGCGCGTATCTTGATCTGCAGGCTCCCCAAGAAC TTCGCTCCCCCTTGGATTCAGAGCTCCAGCCTCACAGGGGCCTTCCTAGG GACTGTTCTTCGCCCCAAAGAGGCCACCATGGCGGCATCAGGTGCAGTGC TGACGGAACAGCACCAGGGGAGGGGGCAAGAGGGCTCACCTTCCCCTCCA AGCTGTGCAGGTGACTGAAGTCCAGAACACTTGCCCTGAACCCCTGATCC TTCACTCCCTCTTTTACCCTGAGTCCCGCAGCGCTCCCCATACGGGTAGT ACTGCCTAGCCCAGGAGCCCCTGAGGGCAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0004 a0006c0006t0004	a0006c0006t0004g0133 a0006c0006t0004g0133	1	336	0.0030	-2430	c.49 others(11): Show c.4928_*7357del	ARID3B	ENSG00000179361.18	transcript	ENST00000346246.10	protein_coding		2571		chr15	TogoVar
FBXL18_chr7_5470797_5518809	5515790	GGAGTCTC others(2423): Show GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGTGATCTCAGCT CACTGCAAGCTCCACCTCCCGGATTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCTGCCCACCTCGGCCTCCTAAAGTGCTGGGACT ACAGGCGTGAGCCACCACGCCCGGCCAATTTCATATATTTTTTAATAGAG ACAGGGTCTTGTTGTGTTACCCAGTCTGGTCTTGAACTCCTGGGTTCAAG TGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACC ACCATGCCAACATTTTTCGTAGCTTGGGTGGTTCCCTGAAATCCTTGGAG TCCCTCGGCCTGCAGCTCATTACTACAATTTCTTCCTCGGTCTTCAGGTG GCCGTCTCTCCACTGTCTCTCTATGTGTCCTCTCCTCGTCTTCTGACACC AGTCATGTTGGATTTAAGGGCTCGTCTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTGGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGATCTTG GCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGATTACAGGCACGTGCCACCACACCCAGCTCATTT TTGTATTTTTAGTAGATACGGGGTCTCACCACTTTGGCCAGGATGGTTTC GGTCTCTTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGA TTACAGGCGTGAGCCACCGCACCCGGCCAGGGCTCATCTTAATCCAGCAT GATTTCACCTTAACTAATTGCAATCCAACATGATTTCACCTTAACTAATT ACATCTGCAAAGACCCCATTACAAATAAGGCCATATTCTAGGCCGGGGGC CGTGGCTCATGCCTGTAATCCCAGCACTTTGGGACGCCGAGGCAGGCAGA TCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACACGGTGAAACCCAT CTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTA GTCCCAGCTACTCACGAGGCTGAGGCAGGAGAATGGCATGAACCTGCGAG GCGGAGCTTGCAATCAGCGGAGATCGCGCCACTGCACTCCAGCCTGGGCG ACGAGCAAGACTCCGTCTCAAAAAATAAATAAATAAATAAATAAATAAAT AAATAAGGCCATATTCTGAGGTTCCAGGTGGACATGAATATCTGGGGGAC ACTGTTTACCCTAGCACATTGAGTTTCATCTCATAACCCCCAGGCCTCTT TCCCCCTCCAACTTCATAGGCTTGATCCACTTATTAGTATGAAGAGGTCT CTGGTGAGCTCCAATTGTGGATCACGGGGGTGGCTGGGGAACAGAGGGAC AGTCCTTGCCCCCAAAGAGCTCATGGTTTCGTCCACAGTAAAGTACAACT TTAGGTATCACAAAAATGAGTGTTGGGGCGGGTGCAGTGGCTCACACCTG TAATCCCAGAACTTTGGGAGGCCGAGGAGGACAGATCACCTGAGGTCAGG AGTTCAAGACCAGTCTGGCCAACATTCAAAACCTCGTCACTACTAAACAT ACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTCG GGAGGCTGAGACAGGAGAATCTCTTGAACCTGGGAGGCAGAGGTTGCAGT GAGCCAAGATCACGCCACCGCACTCCAGCCTGGGGGATAAGAGCGAAACT CTGCCTCAAAAAAAAAAAAATAGTGTTAATGATAGTTCCCATTGTTTGCT ATTGGGGCCTAATTCTGGCCCAGGCAAGCATCTGGGAGAGTTTCACAGAA CCCTGAAGTTTCTCTCCTCCAGGCCTCCTGCCACCTGCCTGTCCTCCTCC TTTCTCCTCTGCTCAGCCACTCTGGTCCATGATGTGTGAAACACTCAAGG TCTCATCTACGCACTGCAAGGGTCCCTTCTCTGGGGAAAATACTTTCCCC CTGGTCTTGCTGGTTCTGGCCATAACTCAAATGTTGCATCTTCCTAGCAC GTCTTCCCTGGAATTCTCTTTCCCAGCCTCTCTGACCCATTCCTCCTTTT TTCCCTATAATCTGTTACAAGATGTGCTTTTCTTTTTTTTTTGTTTTGTC TTTTCTTTTTTGAGATGGAGTTTCGCTCTCGTTGCCCAGGCTGGAGTGCA ACGGCACGATCTTGGCTCACCACAACCTCTGCCTCTCAGGTTCAAGCAAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCCTGGCTA ATTTTGTTTTTTTTTTTTTTTTTTTGAGACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0134 a0001c0002t0001g0134	1	336	0.0030	-2430	c.-45 others(11): Show c.-4546_-2117del	FBXL18	ENSG00000155034.21	transcript	ENST00000382368.8	protein_coding		1982		chr7	TogoVar
DLGAP2_chr8_732628_1713476	1403554	AGAGTCGT others(2422): Show AGAGTCGTGTATTGAGAACTTACTGAGCGCCACCTCCTCGTCCTCCAGAG TCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGT GTATTGAGAACTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTAT TGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCAGAGTCGTGTATTGAG TGCTTACTGAGCGCCACCTCCTCATCCTCCAGGGTAGTGTATTGAGTGCT TACTGAGTGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACT GAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGC GCTCCCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCA CCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTC CTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCA TCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCT CCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTG AGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCTGAGTC GTGTATTGAGTGCTTACTGAGCGCTCCCTCATCGTCCTCCTGAGTCGTGT ATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTG AGTGCTTACTGAGTGCCACCTCCTCATCCTCCTGAGTCGTGTATTGAGTG CTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTA CTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGA GCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGC TCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCC TCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCT CGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTC CTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCC AGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAG TCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGT GTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTAT TGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAG TGCTTACTGAGCGCCACCTCCTCGTCCTCCAAAGTCGTGTATTGAGTGCT TACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACT GAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGC GCCCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCA CCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTC CTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCA TCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCT CCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAG AGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCATCGTCCTCCGGAGTC GTGTATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGT ATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCTGAGTCGTGTATTG AGTGCTTACTGAGCGCCACCTCCTTGTCCTCCTGAGTCGTGTATTGAGTG CTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTACTAACTGAGCGCT CCCACCTTGTCCTCCAGAGTCGCGTAACTCAGCGCTTACTGAGCGCCACC TCCTTGCCCTCCAGAGTCGTGTATTGAGTGCGCACTGAGCGCCACCTCCT CATCCTCCAGGGTAGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCGTC CTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCC TGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAG TCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCTGAGTCGT GTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTAT TGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCGGAGTCGTGTATTGAG TGCTTACTGAGCGCCACTCCTTGTCCTCCG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0015 a0001c0011t0015	a0001c0011t0015g0001 a0001c0011t0015g0001	1	40	0.0250	-2429	c.107 others(19): Show c.107-97796_107-95368del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
CAMKMT_chr2_44356947_44777592	44597988	GCCTCCCA others(2421): Show GCCTCCCAAATTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCTAT GCTTCCTTATTAATGCCATAAAATAATAAGATCTAGTTGTAGCTCTAATA ATGATTATAATTTTTCATTAAGAATGAGCTACTAAATATCATTTCCAAAC AAACAATGACAAAAATTATAATGTTAGATGAAAATATTACTGTTCATAGC CTACACTTGTAATATAAGGAAATGCTAAATTTGGTTAGTTTAGTAAAAAT AAGAATATTTTTTCCTTGCAAGTTCATGGACCCCCTGAATTCTTTCTATG AATCCTAAGAACCTCTGCCTTCCTTCTGTTAATTTTTAATGAAAATTTAG ATTTTAGTCACAAAAACCAAGTTATGCAAAAATAGATTATGAAGGAATAT GGGAGAAAAGAAATGAAGTTCCAGTTTTCTCGTGGAATTGGTTGAAAGGC TTTATTCAACATTAAGATATATACACTGTGCATTTTTTTTACTTTCCATT ACTTCCTGCTGGAATTAGCATTGTCCTCTTCAATGAGTCACTAATGAACA GCCTGACAAGTATGACTTAATCATACAGCACTTTTAGTCTATGAAACCTA CTTAGAATGTTAGCACAAAGTAGAAATACAATGATTAAAGGAGAAACTTA TATACTATAATGAAATCTTAGCTCAGAAGAACCTAATTTGCAGCAAGCTT AGGACCTTTAAAATCAGAAGTCCTTTGGGTCTTGTCTTAGCAACTTACTT GTTAAAGGCTCTGGGTGGGGAGGTGGTTGTGAGGCGATATAAGAAAATGA AAAGAAGGAATAAATAAAGTCATGGTTTCACAATGTGAAGTTCAAAAAGG CTATATACCATCACAGGTGTTCAGTACATATACCAAACCTCATATTTACA AGTTGCTAACTGGAATTGCATGATTAGATTGAGTAATCACACGTGTCGGT AAAAAGCTGTAATTACCTAAGAAAAGCATAGCATTTTTGTCTGTGCAGGG CTCACCTATTTCGTATGTCTTTAAAACTTTGACCAATTATAAATCTTTTA GCAAGGTAGAGAGTAAAATCCTATATTTTCTGTGGATGTTGACACATGTA AGTTCCTGATCATTATTTATTAAACAATTAGCTTTAACATGTAAGATGGA ATGGGAAAAACATTTAAACCTAATGTGAATTGCCTAGGTATGAGAAGCCT TAGAACTTTGTTAGAAATTTCTGTTTTCCATTTCTCAAATACTGTGACCA TAACTCATAGTTTATTTATAAATAGAAAGTGACACTTCATAATACCTGGC AGCTTTCAAAACTAGATTATATCTGTCTTTGCCTGAAGGGCTCCAGTAAC ACTATTGTACAATATTTTCTTCTGACCATCTGGCAGTTCTTAGGAACCAA CCTCTGTCAACATTTTATAGCTACTGCACTGGTTACAGCTAATCCTTTCA ATGAATGAGCTGGAAAAAATGTAGATACATCAATATCGTTTTCCTTTAGA GCCCATTTAATACATGCCCTGTTATTATTTTGTTTGATAGGGCCATTATC TTCTGTGAGAATGAAAAGTAATTTGTCAGAAGCATTTTTTTAAATTTAAA GATCAATCTATGTAAATTTTTCTTAAATAAAAGAAACCACAGCTTTTTAA AAAAAGAACCTCAAACATAATCATTAAGAGTCTCAGAAATGGGAACTTAG GGCTTAGATTCCACAAACATTTTTAGCTATTATTTTCTAATCTGGGTTCT AACATGTTTAGTCTAATAACCAAGCCTGGATTGGGCTATTTCTGAGAGGA TTTTATGTTAACAGTGGAGTTGACACCTTGGCAAGGTTTAAAAAAAAAAA AAAAGTGTATGTTTCTCTTGTTGTTTGCTTTAAGAAACTAGGAAGCAATT CATTCCAATGTGGGAATTTTTATGAATTTTTCTTCAAAACGATTTGGTAC TCTATGGACTTTGAATAACTAATGATTTTAAAGTACTTTATTTTGCAGTT TATGAATAAAAGTTGTGGAAACTTTCCAATGTTCTCATTCTAACCTATCT TTACTTCATAAAAACCCATGTTGGTTGAATAATTTTCTTAGAAAGGCTGT TAGTTATTTCTGTATTCTGAAATTTACATTTATCATTGAATTGAAATGGG AAAAGATATTGATCTTTTTTTCAGATTCAGAGTTTAAAACTCTGCTCATA ATAACAGATGATAAAAGAGATTCTCCTCAGCTTCACCATTCCATTACATA CCACCACTATCATGAGACCAAGATTTTTTTTTTTATTTTTGATTTTTGTG ACAGAGTGTCGCTCTGTTGCCCAGTCTGGAGTCCAGTGGCACCATCATAG CTCACTACACCCTCAAACTCCTGGGCTCAGGTGATCCTCCCACCTCAGCC TTCCGAGTAGCTGGGACTACAGGTGCACA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19030.hp1 HG02486.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0105 a0001c0001t0002g0042 a0001c0001t0001g0105 a0001c0001t0002g0042	2	198	0.0101	-2428	c.377 others(21): Show c.377-106292_377-103865del	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
PIGU_chr20_34555542_34682092	34654026	TTTTTGTA others(2418): Show TTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATATTGGCCAGGCTGGT CTCGAACTCCCGACCTTGTGATCCGCCCGCCTAGGCTTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGTGCCCGGCCCTGTGTGCTTATTAAGAGT CTCTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAG GCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGAGCAGCCTGGCC AAGGTGGCAAAACCCTGTCTCTACTAAAAATTCAAAAATTAGCCAGGCGT GGTGGCACACGCCTATAACTCCAGCTACTTGGGATGCTGAGGCAGGACAA TCACTTGAATCCAGGGTGGGGGAAGGGGGAGGGGGTTGCAGAGGTTGCAA TGAGCCGAGTTGGCGCCACTTCACTCCACCTGGGCAAAAGAGCAAAACTC TGTCTCAAAAAAAAAAAAAAAAAAGTCTCTGAAGTTGTTCCTAACCTGTT TCTGCCAGTAGTTCTTGTTATTGCAGTTTGATTAGATATTAACCCAGAGA TAATAAAATTGAAATGCAAAAGACAGCTGTTATTTCTATGAGGACCAAGT TGAATGCTTTTGAAAGATTAGACAGAAGAGCCAAAAAACAAACAAAAAAA AACTGTTCTCAAAGTACATATGAGAGAGATAACTATAAAAATTAAGGCCA GCCAGGAACGGTGACTCACAGCTGTAATCCCAGCACTTTGGGAGGCCGAG GCAGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGT GAAACCCCGTCTCCACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGC GTGCCTGTGGTCCCAGCTTCTCGGGAGGCTGAGGCAGAGGAGTCGCTTGA ACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCATTGCACTCCA TCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAATTAAG GCCAAGCACAGTGGCTCATGCCTGTAATCCCAACACTTTCGGAGGCCAAG GCAGGAGGATTACTTGAGTGCAGGAGTTCAAGACCAGCCTGGGCAACATA GCAAGACCCCATCTCTACAAAGAAATTTTTAAAAATTAGCCAGCTGTGGT GGTACATGTCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTGGGAGGACTG CTTGAGCCCAGGAGGTTGAGGCTATAGTAAGCCATGATCATTCCACCACA TTCCAGCCTCGGTGACAGAGCAAGACCCTGTCTTTAAAAAAAAAAAATTA GAAGGTACATTGTCAAATTAGAAAACTTCTTTAAAATGATATGGCCAATA AGAACGGAAAGGGCAGTGGGACGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCAAGGCAGGCGGATCACGAAGTCAGGAGTTTGAGAGCAT CCTGGCTAATATGATGAAACCCCGTCTCTACTAAAAACACAAAAAAAAAT TAGCCAGGCATAGTCACGGGCACCTGTGGTCCCAGCTACTCCGGAGGCTG AGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCAAG ATCGTGCCACTGCATTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAA AAAAATAAAAAAGAATGGAAAGGGCAGTGGAAAGAAATGTGATGGATGTG GTGAGGAGGGTCTTCAGGGCTTTGTATGCCCCTCTAAGGTATCTGGATTT TATCCTGAGGTGAATGGTGAACATTCAAAGGTGCCGAGCAAGACGGTGAC AGAAACAGATTCACATTTTAGAAAGATGGCTCTGACTACAGAATACAGTG AATGAGCAAGACTGAATGCAAAAAGACCTGTCAGGAAGCTGTTGCTGTAA ACAAGAGATAATCTGGACCTAATTAAGAGTGTTTTCACTATTCTTTTTTT TTTTTTTTTTTTTTTTGAGATGGAGTCTCGCCCTGTGGCCCAGGCTGGAG TGCAATGGTGCAGTCTCGGCTCACTGCAAACTCTGCCTCCCGGGTTCAAA CAATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCC ACCATGCCCAGCTATTTTTTGTATGTTTAGTAGAGCTGGGGGTTTACCAC GTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACTTGCGTTGG CCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACCGCGCCTGGCCTGTT TATAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCC AGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCACCTCCC GGGTTCGCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCACTACCGCGCCCAGCTAATC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp2 others(124): Show HG00099.hp1 HG00140.hp1 HG00408.hp2 HG00423.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp2 HG01361.hp1 HG01934.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp2 HG02273.hp2 HG02523.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03491.hp2 HG03579.hp1 HG03669.hp1 HG03831.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp2 NA18522.hp2 NA18747.hp2 NA18940.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18972.hp2 NA18973.hp1 NA18975.hp2 NA18978.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19004.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19078.hp1 NA19079.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19090.hp1 NA20129.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(124): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0002g0062 a0001c0001t0002g0088 a0001c0001t0002g0121 a0001c0003t0001g0023	127	318	0.3994	-2425	c.195 others(16): Show c.195+729_195+3153del	PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	2/11			chr20	TogoVar
RESF1_chr12_31954415_31998107	31995684	AAAGAATA others(2416): Show AAAGAATAAAATCCAAAATGTTCCAAAATCTGAAACTTTGAATGCCAATG TGATACTCAAAGGAAATACTCATTTGAGCATTTTGGATTTTGCATCCTTG GATTAAGGATGCTTAGGTGGTGAGTATAATGCAAATATTCCAAGATCCAA AAATATCTGAAATATTTTCAGTCCCAAGTATCTCTAATAAGGTGTAGTCA ACCTAGATGTCCTACTGCATACCTAATCACTATGGTGTATCTTATTGCTT ATAGGCTACAAATGTGGACATCATGTTACTGTACTGAATGCTGTAGGGAA TTATAACAATAGTTAAGTATTTGGGTCTTCAAGCATAGAAAAGCTACTGT AAAAATGCAGTATAAAAAAAAATGATGCCGGGCACAGTGGCTCACACCTG TAAACCCAGCACTTTGGTAGGCCAAGGCGGGTGGATCACCTGAGGTCAGG AGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTCTGCTCTCCTAAAAA TACAAAAATTAGCTGGGTGTGTTGGCGCATGCCTGTAATCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGGTGGAGGTTGCAG TGAGCTGACGTTGTGCCACTGCACTCCAGGTTGGGCTACATGAACAAAAC TCCATCTTAATGAATGAATGATGTACCTGTATTGGGCACTTAATATGAAC CATGAATAGCGCTTGCAGGACTGGAAGTTGCTTGCAAGTCAGTGAATTGG TCTGAGCAAGTGAATGTGAAGGCCTAAGACATTACTGTATACTACTATCA ACTTTATGAACACTGTACACTTAGGCGACCCTAAATTTATTTTTATTTTT TACTGCAAAACGGGGTCTCTGTTACCCAGGTTGAAATGCAGTGCTGTAGT CTCAGCTTGCTGAAACCTCCGCCTCCCTGTTTCAAGCAGTCCTCCCACAT CAGCCTCCAGGGTAGCTGGGAACACAGGCACGATCCAGCATGTCCAGCTA ATTTTTAGTAACTAAATTTATTCTTTAAAACTTAAATAGAATTTAGCTTA TGGTAACTATATTAACTTTTTAAACTTTTAACTTAATTTTAATTTTGGTT TTGGTTGTTTTTTTGTTTTTTTTAGACGGAGTTTTGCTCTGCCTCCCATA CAGGCTGGAGTGCCGTGGCACAATCTTAGCTCACTGCAACCTCTGCCTCC CAGGCTCAAGCTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGCGATTAAC AGGTATGTGCCACCACGCCCAGCTAATTTTTGTATTTTAACTAAAGATAG TTTCACCATGTTGGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCC ACCTATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGGCCACTGCA TCAGGCCATTAATTGTAATTTTTTTTATTCATTTCAAGACAGGGTTAAGA AACTGCTAATTTTGTATTTCTGGTAGAGACAGGGTTTTGCCATGTTTCCC AAAACAGTCTCAAACTCATGGGCTGAAGCAATCCTCCCGCCTGGGCCTCC CATAATAAAGTGCTGGGATTACAGGTGTTAGCCACTGTGCCCAGCCGCCA AATTTTTAGCTTTTTAACTCGTAATAACATGGCTTAAAACACAAGCACAC TGTAGAGCTGTACAAACTTTTTTTTTGAGACAGAGCCTTGCTCTGTCACC TAGGCTTGAGTGTACTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCC TGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGTATTACA GGCATCTGCCACCACGCCCAGGTAATTTTTGTATTTTTAGTAGAGATGGG GTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAGGTGGTC TGCCCGCCTCGGCCTCCTAGTGCTGGGATTACAGGTGTGAGCCACCACAC CCAGCCTTTTCAAAATTTTCTTTATACTTTTTGTATAAGCTCTTTTTTAT TAAATTTTTTTTTAACTTTTTTTCAAATTGAAAACTAAAAGATGGGCACA GTGGCTCACCAAGGTCAGGAGATGACTGGACACAGTGCCTCATGCCTGTA ATCCCAGCACTTTGGTGGGCCAAGGTGAGCAGTATTGCTTGAGTCCAAGA GTTCAAGACCAGTACAACATGCTGAAACCCGGTCTCTACCAAAAGTACAA AAATTAGCCAGGTTTGGTGGTGTGCACCTGTAATGCCAGCTACTTGGGAG GCTGAGGTGGGAGGATTACTTCAGCCCTGTCTCCACCCCCCCCCCCAACC AAAAAAAAAAAAAAACAGAACCAGGAAAACATTAACCTTGGCTTCCACGT AGTCAGGATCATCAGTATCACTTGTCTTCCTCCTCTACATCTTGCCCCAT TGGAAGGTCACCAAGGGCAGTAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02809.hp2 NA19030.hp1 others(1): Show HG02723.hp1 HG02809.hp2 NA19030.hp1 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0005 a0002c0003t0001g0047 a0002c0003t0001g0349 others(1): Show a0002c0003t0001g0005 a0002c0003t0001g0047 a0002c0003t0001g0349 a0002c0003t0001g0357	4	450	0.0089	-2423	c.31 others(11): Show c.3150_*5572del	RESF1	ENSG00000174718.12	transcript	ENST00000312561.9	protein_coding		2578		chr12	TogoVar
PIGT_chr20_45411141_45431241	45427808	TAGACCAT others(2414): Show TAGACCATGGGCAAAGGCAATTTGTTCAAGGTGCTTTTACTTGAGTTTAC TTCAAAAGCAGTAAAGGAGCAGACTGTAAATGAGACAGGAACGCAGGTGA GTGGATACACAAAGCTAAGTGGTCTGTGTAGTGTGCCTAGTGTGGGATGG AGCATGCATAGCATGGGGTGTCTGCCAAGTCAGAAGAGCACAGAGCTGTG GCCTGGCTCTCTTTTATACCCGCAGCCCTGTCAGTACCTAGAAACGACCT CCACTACCATGCCACATGTAACCTACGCTCTGGCAACACCCACATATTTC TAGATCAGACCTCCTCCCTGGATCTTGGATTCATTTACCCAACTGCCTAC TTGCTTTCTCCATTTGGATGTCTAAAGACATCTCAAATTGAATATCTCCA AAACCGAGCTTCTGATGTGCTCCACCCCACCCCAAACAGGCCCAACCATA GTCACCTCATCTCTGTAAAAGGTAATTCGTGTCTTTCCAGGCACTCAGGC CAAATACCTTTGAGTCATCCTTGTCTCTCTCTCATCCTGTTTGCACCCTA CCTTCAAAATAAATCCAGAATCCCACCCCTTTTCACCACCTCCACTATTA TCAGTGAGGTTTTCCCTGGCCATACCCTATTTCAAATTGCTATCCTAGCA CGCTACATTCACCTGGGGAACTGAAAAAATCCTGATGCCCAGGCTTTACC CAAACCAGTTAAATCAGAATTTAATGTGGGACTCACAGAGTCTCCAAGTG ACACCAATGTGTAGCCAAGCTTAAGAACTTGGTCTTATTTTTAAAGTAGT ATGAAAACTTACTGTCTCTCCTAAGCATTCTAACAATGGATACTTTTCAG AATAAGATTGTGTAAAACAGAGAACTCACTTTTAACTTTATAACAATTTA TGTATTGTTTGTCTTTTTAAAACAAAAGTATATGTTGAGTTTATAATAAA AGTAAAAATTTGGGCCGGGCGTCGTGGCTCACACCACTCCCAGCACTTTG GGAAGCCGAGGTGGGTGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCT AGCCAACATGGTGAAACCCCGCTTCTACTAAAAATACAAAAATTAGCCAG GCGTGGTGGCGGGTGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATCACTTGAACCCAGGAAGTGGAGGTTGCAGTGAGCCGAGATCAGGC CACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTTGAATAATAA TAATAATAAAATAATAATTTGATGAAGACTTAATTAAATCAAATAGGCAT CTGGGAGGTCTGGCCCCAGGTCTTCCCCCAGACTGAAGGGTGACCACAGG TGAGCCCTTTCAATATCTGGGCCTTGGACTCCCGCTGAGGTGAAAGTGAC CGGGTAGCCTGTTGGAGCCAGCCCTGTCCCATAGGCTATGGGTCTCAGGG TCCTCTTTCCCAATAGCACTTCAGCTCACTTGAGGTCTTTTCTGAGCTGG TCATGCCCACCAGGCAGATGGCAAGGCAGGGCACAGAAGCTGCTGAGCTC CATGGTGCCAAGGGCTGAGCTCCATGAGCCAGGGCTGGGAGGCTGGAACT TATACCTGCAGAAAAAGAAGAGTCCCTGTTTCCACAGGACAAAGGAAATA TCTTGTTTTTGATTTCTTGGAAGAGGAAGCACTCTGGGCAAGAGGTATGA GCCGGGATGAAGTGGACTCCTTGTCTGGAGGTGGTGCTACACACCTTGGA GGGGCTCCTGGGAGCTACTGAGAATGTCCCCTAAGTCAGTATTCCTGCCT CAGCTGAAATGCCAGTCTTCAGCCTCATCTACTGCACACTTGAGTCCATG AGATTTTAGAGTGGTAAGTGACCTTTGGGGTCTCAGTTTTCCTATCTGTA AAGGGAGTGGGCTGGACAATGAACAGCTGTTCTCCATTCTTTTGTTATTG GTTCCCATCCAGAGCCTCCCAGCTAGTTGTCTCAACATCCCAGGGGAGAA AGCATAGCTCTTTGTCCATTGGTTTATTTATTCAATTTAGGAATAATGAG TGTATTGTTTTATATGAATAACCATACTTATTTAAAAGATCAAACTAAAC TAAATAGTACAAACAAGCGAAATCTCTCCCCAAAGTCTACTATGGTGCTG TGCAACAGAAATATAATACAAGCCACAAATCGAATTTTCAATTTCCTAGT AGCTTTTTTAAAAAGTAAAAAGAGGGGCCAGGCACAGTGGCTCAGCCTGT AATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGGATCACCTGAGCTCGGG AAGTTGAGGCTAATAGTGGGCTGAGATTGTGCCACTGCACTCCAGCCTGG GTGACAGGGAAGGAGACCCTGTCTCAAAAAAAAAAAAAAAAGAAAGGAAA AACAGGTAAAATTAATTTGATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	460	0.0022	-2421	c.19 others(11): Show c.1983_*4403del	PIGT	ENSG00000124155.19	transcript	ENST00000279036.12	protein_coding		1568		chr20	TogoVar
PBLD_chr10_68277660_68337928	68308468	CAGTATAT others(2412): Show CAGTATATGAGAGTGTCTGATCATTGCTAATCTGATAGATTTTAAAATAT CTTGTTTTCATTTGCATTTCTTAGATTATTCTTTCTTTCTTTCTTTTTGG AGACAGAGTCTTACTCTGTCACCCAGGCTGGATTGCAATGGCACAATCTC CACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAG CCTCCCAAGTAGCTGGGATTACAGGCACGTGCCACCACACCTGGCTTATT TTTTGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTGGAACTCC TCACTTAAGTGATCCTCCCACCTAGGCCTCCCAAAGAGCTGGGATTGCAG GCGTGCCCCACTGCACCTGACCTGCATGGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTTTGTGTGTGTGTGTTGAGACCATTCTCTTGAATTTT AATCTTGGTTCCATTTACCACGTAAATGTAGGAAAATCAGAAAGCTTCCT TGTCCAAATAGCTTAGTCATTAAACCTGCCCATGGATGTGCCTGGGGAGA GTGATGTATATTTGTCCCTCTGCAATAGTCTTAGTTTGTTTACAGTTTTC CTGTCACTGCAGATTCCTGTTATTCTGTAGCTGTTAGCACAAAAGAACCC ACTTCATGGCCTGGTGCAGTGGCTCACGCCTGTAATTCAGCACTTTGGGA GGCCAAGGCAGGCAGATCACTTGAGGTCAGGAGTTTGAGACCACCCTGGC CAACGTGGTGAAACCCATCTCTACCAAAAATATGAAAAAATTAGCCAGGT GTGCTGGCTCGTGCCTATAATCCCAGCTACTTGGGAGGCCGAGGCAGGAG AATCGCTTGAACCTGTGAGGCGGAAGTTGCAGTGAGCCGAGATTGTGCCA CTACACTCCAGCCTAGACAACAGAGTGAGATTATGTTTCAAAAAAAAAAA AAAAAAAAAGAACCCACTTCACTCTTGCTTATAACTTTTATAACTTCCGC CTCAAAACGAGGCTACTCATTAATAAATATCAGTTTAGTTCTTTGAAAAA AATAAATATTGGCCAGGTGTGGTGGCTCACGTCTGTAATCCTAGCACTTT GGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTG GCCAACATGGTGAAACCCTGCCTGTACTAAAAATACAGAAATCAGCTGGG CATGGTGGCACATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGA GAATCGCTTGAACACAGAGTCAGAGGTTGTGGTGAGCCGAGATCACGCCA CTGCTCTCCAGCCTGGTGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAA AAAAAGAAAGAAAGAAAAAGAAAATATAAATATGTAGGCCAGGCACGGCG GCTCACACCTGTCATCCCAACATTTTGGGAGACTGAGGTGGGTGGATCAC TTGATGTCAGGAGTTCGAGACCAGCCTGGCCAACACAGTGAAACCCCGTC TCTATTAAAAATACAAAAATTAGCCAGGCATGATAGCAGGCACCTGTAAT CCCACCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGC TGAGGTTGCAGTGAGCTGAGATTGTACCACTGCACTCCAGCCTGGGTGAC CGAGAGAGACTCTGTCTCAAAAAGAAAAAAGAAAATAATAGAGTACGGGC ATTCAAAGTGTATCCGAACACCATCTACTTTTTTTTCAGTTGGTGAAAAG AAAATAAGTATCAAAAAGAATTATAAAGTGTAAATAAAATAAGTTTTAAA TCAAAATTTGAAAGAAAATTTTTCTTTTTACTTTGTTTATGTTTCTTTTA ATTGACAGATAAAATTATATTTATCATGTACAATATAATGTTTTGAAGTA TATATATATATATATATACACATTGTGAAATGGTTAAATCTAGCTAATTA ACAAATGCATCACCTCACATAATCATTATTTTTATGATTAGAACACTTAA CATCCACTCTCTTTGCATTTTTCAAGAATACAGTATATTAACTATAGTCA TGATGCTATACAATAGATCTCTTGAACTTATTCCTCCTATCTACTGTAAT TATGTACCCTTTGGCCAGATCTCCCCAACCACTCCCCTCCCCAGCCACCC CCACCTCTGACAACCACCATTCTACTCTCTACTTCTACAGTGTCAACTTT CTTAGATTCCTCACTGAGTGAGATTATGCAGTATTTGTCTTTCTGTGTTT GGCTTATTTCACTTAGCATAATGCCTTCCAGGTTCACCCATGTTGATGCA AATGATGGGAATTCTTTCTTCTTTATGGCTGAATAATATTCTATTGCATA AATATAGACACTCCTCTACTTTTGATGGGGTTACATCTCAATAAACCCAT CATAAGTTAAAAATATCATA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00597.hp1 others(39): Show HG00423.hp2 HG00558.hp1 HG00597.hp1 HG01952.hp1 HG01993.hp2 HG02015.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02293.hp1 HG02698.hp1 HG02818.hp2 HG02976.hp2 HG03209.hp2 HG03239.hp1 HG03516.hp1 HG03669.hp2 HG04184.hp2 HG06807.hp1 NA18940.hp2 NA18953.hp1 NA18957.hp2 NA18959.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18968.hp1 NA18971.hp1 NA18980.hp2 NA18982.hp1 NA18990.hp1 NA18995.hp1 NA19009.hp2 NA19056.hp2 NA19067.hp2 NA19070.hp2 NA19079.hp1 NA19090.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0002c0003t0012 a0001c0001t0001 a0002c0003t0002 a0002c0003t0012	a0001c0001t0001g0277 a0001c0001t0001g0278 a0002c0003t0002g0007 others(38): Show a0001c0001t0001g0277 a0001c0001t0001g0278 a0002c0003t0002g0007 a0002c0003t0002g0107 a0002c0003t0002g0203 a0002c0003t0002g0204 a0002c0003t0002g0205 a0002c0003t0002g0229 a0002c0003t0002g0261 a0002c0003t0002g0274 a0002c0003t0002g0275 a0002c0003t0002g0306 a0002c0003t0002g0308 a0002c0003t0002g0309 a0002c0003t0002g0310 a0002c0003t0002g0311 a0002c0003t0002g0312 a0002c0003t0002g0313 a0002c0003t0002g0314 a0002c0003t0002g0315 a0002c0003t0002g0316 a0002c0003t0002g0317 a0002c0003t0002g0318 a0002c0003t0002g0319 a0002c0003t0002g0320 a0002c0003t0002g0321 a0002c0003t0002g0322 a0002c0003t0002g0323 a0002c0003t0002g0324 a0002c0003t0002g0325 a0002c0003t0002g0326 a0002c0003t0002g0327 a0002c0003t0002g0328 a0002c0003t0002g0329 a0002c0003t0002g0330 a0002c0003t0002g0331 a0002c0003t0002g0332 a0002c0003t0002g0333 a0002c0003t0002g0334 a0002c0003t0002g0335 a0002c0003t0012g0336	42	362	0.1160	-2419	c.-59 others(17): Show c.-59-3984_-59-1566del	PBLD	ENSG00000108187.16	transcript	ENST00000358769.7	protein_coding	1/9			chr10	TogoVar
ACAP1_chr17_7331529_7356477	7337829	AGGCGACA others(2411): Show AGGCGACAGAGCGAGACTCTGTGTCAAAAAAAAAAAGACTTAATTTTGGA CTTCCTTGTTCTGCTCTTGAGCTCCTGCATTGTGCCAGGCCCTGGGCATT CAGGGAGGACAAGATCATTTCTGCTCCCACGGAGCCCAAAGGCTGACTAG AAGACAAACCAGTGAAACGTTTCAATTCAAGACAGTAAGGTGTCCCCTGA GCACTCTATCAAACAGCATGTTCACACAAATACACACTCAAATGCTCTCT CATTCCCCTTACTTCGCTTTACTTTTCTCTGCAACATTTACCTCTGACAC ATTATGTATTTGCTTGCTATATATTAGTTCTCTATTGCTGTGTAACAAAT TGTCACAAATTTAGTGGGCAACATTGTTTTATGGGCAACATGGTGAGACC TCATCTCTACAAATAATAATTTTATTTTTATTTTTATTTATTTGAGATGG AGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTTA CTGGAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTACCTCAGCCTCCC AAGTAGCTGGGATTACAGGTGTGCACCACCACACCTGGATAATTTTTTTT CTTTTTGTATTTTTAGTAAAGACAGGGTCTCACCATGTTGGCTAAGCTGG TCTTGAACTCCTGACCTCAAATGATCTACCTGCCGCAGCCTCCCAAAGTG CTGGCATTACAGGCTTAAGCCACCGCACCCGGCCTACAAATAATAATTTT AAACAATGGACTGGATGGAGTGGCCACAGCTGTGATCCCAGATGCTTCAA TACTGGGCTCAAGTGATCCTCCCTCCTCAACCTCCCCAGTAGCTGTGCTA CAGGCACATGCCACCACGCCTGGCTTTTTTAAATTTAAATTTATTTTTTG TAGAGATGGGGTCTCCCTATGTTACCTAGGCTGGTCTGGAACTCCTGGCC TCAAGTAATCCTCCCACCTCAGCCTCCCAAAGTGCTGGAATTACAGGTGT GAGCCACCACACCTGGCCTGAATTTTTTATTTTGAGTAAATTATTGACTC AGGAGACTAGTGAGGAGAGGTCTCATGTACCCATCACCCAGCTTCCCCCA GTGGTGACATCTTATACAATACTAGTACATTATTAAAACCAGGACATTAA TAGTGTCACATTACAATTAACAATAAACTCGGCCAGGTGTGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTC AGGAGATCGAAACCATCCTGGCTAACACTGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTATTCGGGTGTGGCGGCAGGCGCCTGTAGTCCCAGCT ACTCAGGAGGCTGAGGCAGGAGAATGGCGCGAACCCGGGAGGTGGAGCTT GCAGTGAGTGGAGGTCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGA GACTGTCTCAATAAACAAAAACAAACAAACAAAAAACCCCAATAAACTCT AGCCAAGCTCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGTAGGCTGC GGCAGGTGGATCACGAGGTCAGGACTTCGAGAACAGCCTGACCAACATGA TGAAACCCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGC ACGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTT GAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTC CAGCCTGCGGAGGTCGCAATGAGCCGAGATCGTGCCACTGCACTCCGGCG TGGGCGACAGACCAAGACTCTGTCTCTAAATAAATAAATAAACTCTATAG ATCCTACTTTGATTTTACATTTTGCATATACTCTTTTTTGGTGTTTTTGT GTATAATTCTATGGTACTTTATCACGTGTATGGATTCCTTTAACCATCAC CACACACCAATGGACACAAGGAATTCCTTTACAGTGGTACCCGACACCCT TCCCACACTTCTTTAATCTGTGGTAACCGCTGATTTGTTCTCCATCTCTC TACTTTTGTCATTTCCAGAATGTTCCATATATAGAATCATACACTATGTG ACCCTTTGAGATTTGGCTTCCCCCTCCCCCCTCACTCAGAATAATGCTGC TGCCGGGTGTGGTCGCTCATGCCTGTCATCCCAACTACTCAGGAGGTCAA GGTAGGAGGGTTGCTTGAGGCCAGAAGCTCGAGACCAGCCTGGGCAACAT AGCAAGACCCTTGTCTCTAAATAATGTTCTGTTTTGTTTTTAAATTAGCC AGGCATGGTGGTGTGTGCCTGTAGTCTCAGCTACTCAGGAAGCTAAGATT GGAGGATCCCTTGAACCCAGGAGTTCAAGGCTGCAGTGAGCTATGATCCC ACCACTGCACTCCAGCCTG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18995.hp2 HG00423.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0001 a0001c0001t0001g0027	2	444	0.0045	-2418	c.111 others(16): Show c.111+471_112-1691del	ACAP1	ENSG00000072818.12	transcript	ENST00000158762.8	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
ANKS3_chr16_4691511_4739271	4719902	GCCTGTAA others(2410): Show GCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGACAGATCATGAGGTC AGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCCACTAA AAATACAAAAATTAGCTGGATATGGTGGCACACACCTGGAATCCCAGCTA CTCGGGAGGCTGAGCCAGGCGAATTGCTTGAGCCTGGGAGTCAGAAGTTG CACTGAGCTGAGATCACACCACTGTACTCCAGCCTTGGGGACAGAGCAAG ACCCCACCCCAAAAAAAAAAAAAAAAAAAAGGCCAGGCACGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGAAGACCAAGGCGGGCGGGTCACAAGGTC AAGAGATTGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAA AAATACAAAAATTAGCTGGGCATGGTGGCGAGTGCCTACAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAAAATCGCTTGAACCTGGGAGGCAGAGGTTG CAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGAGAG ACTCCATCTCAAAAAAAAAAAAGAAGTCTAACACCCTAAGGGGAGGGGTG TGAACCAGGACCACTATGGAACAAAGCAAGTTTACACTACCCACTACCGA CTGAACCCACCTCACACAACAAAGACTCTACTTTGAAGAACACATCCTAA GCTCCTGAAGAAATTCCCATATGTGCTTAAAAAGACGTGTAAGAAATGTC AACGGTAGGCCAGGCGCAGTGGCTCATGCCTGTAATCTCAGCACTTTGGG AGGCCAAAGTGGTAGATCACTTGAGGTCAGGAGTTCAAGACCATCCTGAC CAACATGCCGAAACCCTGTCTACTAAAAATACAAAATTAGCTGGGCGTGG TGGCACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATC GCTTGAACCTGGGAGGCAGAGGTTGCAATGAGCCGAGATTGCGCCACTGC ACTCCAGCCAGGGCTACAGAGCGAGACTCCATCTCAAAACAAACAAACAA ACAAACAAAAAAACTCTGATTCATCCCTACAGGGAATACCATGCCACCAT AAAAAAAAAAAAAAAAAAGAGAGGCCAGGCACGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACGCGGTGAAACCCCGTCTCTACTAAAAATATGA AAAATTAGCTGGGCATGGTGGCGGGCGCCTGTGGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGTGTGAACCCGGAAGTCTGAGGTTGCAGTGAG CCGAGATCGTGCCACTGCACTCTAGCCTGGGCAACAGAGCAAGACGCCAT CTCAAAAAAAAAAAAAAAAGAGAGGGGCTGGGTGCGTTGGCTCGTGCCTG TAATCCCAGCACTTTGGGAGACCGAGGCAGGCGAACTGCCTGAGCTCAGG AGTTCAAGACCAGCCTGGGCAACGTGGCAAAACCCCATCTCTACAAAAAA AATACAAAAATTGGCTGGGCGTGGTGGCACGCACCTGTAATCCCAGCTAC TTGGGAGGCTGAGGCAGGAGGATCACTTGAGACCAGGAGGTCAAGGCTGC AGTGAGCTGAGACTGCACCACTCCACTCCAGCCTGAGGGACAGAGCAAGA CCCCATCTCTTTATTGATTTATTGATTTATTTATTTATTTATTTATTTAT TTATTTAGAGATAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCAA CATCTTGGCTCATCGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTG TCTCAGCCTCCCAAGTAGCTGGGATTACAGCGTCAGCCACCTGTATTTTG TATTTTTGTATTTTTGGTAGAGGCGGGTTTCACCACCTTGGCCAAGCTGG TCTCAAACTCCTGACCTCAAGTGATCTGTCTGCCTTGGCCTCTCAAAGTG CTGGGATTACAGGAGCGAGACAATGCACCTGGCCCCGTCTCTTTATACAC CAATATAGAAAAATCTTCATGATTAAGTTTTTTAAAAAATGCAAGATGGG AGCAGCTGCACATGGGGCAGGACCATGAGCATGTGTGGGTGTATTCCCAG AGTCGCCCGTGGGGAGGGTGCCAAGGAGACGCAGGCAGGGTGGGGGACAG GCCTGCGGTGCACCCACCTTCTGGTCTGCATGTGTACCATGTGCATGTTG TGTCCCAAAATTCTTTGTTAAAAAGAGATACCATGTGAATTTTTCACTAT TTAAGAAATTCCCACCAATAAGTGAGAAAAAAACAAACTATCCAATAGAA AATTGGGCAATAAACATAGACAGCTCGTAAGAGAAATACAAATGGCCAGC CGGGCACAGTGGCTCACA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp1 HG01109.hp2 others(5): Show HG00639.hp1 HG01074.hp1 HG01109.hp2 HG01496.hp2 HG01993.hp1 HG02145.hp2 HG03239.hp2 NA19054.hp2	a0004 a0009 a0004 a0009	a0004c0005 a0009c0015 a0004c0005 a0009c0015	a0004c0005t0002 a0004c0005t0010 a0009c0015t0005 a0004c0005t0002 a0004c0005t0010 a0009c0015t0005	a0004c0005t0002g0075 a0004c0005t0002g0076 a0004c0005t0002g0077 others(5): Show a0004c0005t0002g0075 a0004c0005t0002g0076 a0004c0005t0002g0077 a0004c0005t0002g0078 a0004c0005t0002g0098 a0004c0005t0010g0072 a0004c0005t0010g0074 a0009c0015t0005g0073	8	372	0.0215	-2417	c.573 others(17): Show c.573+2431_573+4847del	ANKS3	ENSG00000168096.15	transcript	ENST00000304283.9	protein_coding	6/17			chr16	TogoVar
PREX1_chr20_48619252_48832999	48758695	GGAGCAGA others(2410): Show GGAGCAGACACAGGGAGCAAACAGCATTGCGTGTATCTGAGGATACAGCA TCACGGGCAGGGTCAACAGCTGGGGCAAAGGCCCCAAGGCACATTCAGTC TTTCCAAGACAATCCTATCGAAAACGCCTATCCCTGCTCTGTTTTCCTCA CAGCACCTGTCACCATGGACATTATGTGTGTTCATTATCAGTCTATTATC CATCTAGCCCACCTGAATCCAGGCTGCATCTGCGGGGAACCCATACACAT TCCCCTGCGGAGGCCAAAGATATGGCCAGCATTCCACCTCCTCCTCCCAT GCCCCAACTCTCAGAAGCCCTCCCTACCCTTAGAAACTCTCTCTACTCCT TGCTAGAAGGGCACTGTATCTCCTAAGCAAGCAGTATGTAAGAGTGGATG AGGCTCAAAGGCTAGAACTAGCCACCTGGTTCAAATCCTGCCCCTGCCAC CTACTGCTCTGTGACCTAGGCAACTGACTCCATCTCTCTGGGCCTCATCT ATAACATGGATGGGGACCATAAAACTACTGACTTCATGGGCTATTGTGAG GCTGATATGAAATACTGCAGGCAGGCCAGGCGCGGTAGCTCACGCCTATA ATACCAGCACTTTGGGAGGCTGAGATGGGTGGATCACCTGAGGTCAGGAG TTCGCGACCAGCCTGACCAACATAGTGAAACCCTGTCTCTACAAAAAATA CAAAAATTAGCCAGCCATGGTGGCTCACATCTGTAATCCCAGCTACTTGC GAGGCTAAGACAGGAGAATCATTTGAACCTGGGAAGCAGAGGTTACAATG AACTGAAATCGCACCACTGCACTCCAGCCTGGGTAACAGAGCAAGATTCC ATCTCAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAAAAAGAAATACTA CAGGCAAAGCATTTAAATGGGCTCAAATCCCAGCTCTGCTGCTTACAAGC TCTAAGACCTGAAGTAAATTATTTATTCTCTCTGCCTCCATTTCCTCCTC TATAACGGGGGATAAAATGAGTACACAGGATTACAATGAGAATTACAGAA GCTAACACACATAACAAGCACTTGAATGGTCCCTGGTGCATAGCAGGTGC TCAAAAAACATTAGCTATTATTGGCCAGGCTCACACCTGTGAGCTCACAC CTGTAATCCTAACACTGTGGGAGGCCGAGGCAGGCTGATTGCTTGAACCC AGGAGTTCGAGCAATCAATCAATACGGCAAAACCTCATCTCTACCAAAAA TACAAACAAACAAACAAAATAGCCAGGTGTGGTGGCGCACACCTGTAGTC CCAGCTACTCGAGAGGCTGAGGTGAGAGCATCACTTCAGCCTAGGAGGCA GAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTTCAGCCTGGATGACA AAGCAAGACCCTGCCTCAAAAAAAAAAAAGCATTGGCTATTATGATCTCC CCATCTTGAGTTTCTAGAGTGTCTGCAGGGAGTCCAAGCCCTGGTGCAGG TAGACAGAACCCACTGTGCTTCCTAAGGAAACCTGGATTTGGATCAACCA CATCTGTAGGGCTTCTACATGCACCAAGCACACTCACATTTATCCCACAC TATTTTTACTTATTTTTATTAGTTTTTTCCATCCTGCAAATAGCTCTATT ATTATAGACTGCCTGCTTCCGAGTCTCCTGAGGTGAGATGAGAAGGGGAA GGCTTTATAAACTGCAGAGCCCCCCACATCCTCATCACCACCAGCGCACC CCTCTGCCCTGCCCCATCCTCCTTGCTGACTGCCAACCACGTGACTTCAG CAAGTCACCACACTTCTGAGTCAATTTCCTGGACCAAACAAAAAGGGGGG GAGGAGTAGTTGTTGAGGTTTAAGTGAAATGATGCAGGTGAACACTTTGT AACTACAAACACTTCCTGGAAAAAGTGGCAGAAAGGCTGAGCCAGGAGAG GGAGGCTGGACTAGGAAAGGGGCAGGAAGTTGCTTGTGATGATATTCTAG GGGGACAAGTCCTCTCCGAGTACCAACCATCCCAGCAAGTGTTAACCAGG GCCTGCCGTGCACCAGGCACCGAGCTGGGTGCTGGAGACACAGATATAAG CCATGACCCTGCCACGGAAGGACTTATGCATTCTTACATTCGCCTGTGTA GTCAGCAAATACTTACTGCACACCTATTATGTGCCAGGCACTGCGCTAAG AGCCAATGACACATCAGTGAATGAACAAATCAGACTAACTCCCCACCTTC ACAAAGTAGTGGCAGAGACAGACTATACACTGATTTTAAAATAAAATGGC AGGTAGGAATGATTGCTACAAAGAAAACTAAAGCAGGGTAAGAAAACAGA GAAGGATAAGGTGGGAATGCCATTTCAAGGAGCTGTTCAGAGAAAGCCGT TCTGAGAAGATGGCATTT	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0244 a0001c0005t0004g0244	1	266	0.0038	-2417	c.220 others(19): Show c.220-13232_220-10816del	PREX1	ENSG00000124126.14	transcript	ENST00000371941.4	protein_coding	1/39			chr20	TogoVar
CENPC_chr4_67463762_67550503	67515180	AGGAGGCC others(2409): Show AGGAGGCCGGATGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGG CTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCA ACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATG ATGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCGGAAGAAT CACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCACTG CACTCCAGCCTGGGTGACTGAGCAAAACTCCATCTCAGACAGAAAAAAAA AAAGAGAGAGAGAGAGAGATTGGGGACAATTTCTTCCTATCTTTTTTTAC ATCCCACAGTTCTTCATACATAGCAACACCAAATACACAGACGGTTGAAT GAATGTAAAAATTACTAATATTACTATAGGACTGTAAATTGTAGACCTAC AGAACTATAAAATAATAAATGTTGTTTTAAGCCGCTAAGTGTGTAGCAAC TTATGACAGCATGTGTGTAAAAATGCATTCCAAGTTTGGGTATTTCACAT ATATTTTCATATTATAATCATGGTATAGAAATAAATGGAGTGTATCTAGA AAGGTAGCATAAGCACAAAAGAAATCTAGTGCCACAGAAACAGGAAAAAT AAAAGGCAAGTCTTATCACAAAGCATACAATGCTACAGAATGTTATTAAA TAATGAAGTCAAACAATGTTTCCCAACTCTAGACCTTTCTCCATAGTCCT AGCCCAAACTTTATGTATTTTACTAAAAGGCAGAAAGCCTATATCATGAA TATTATTGTTATTTCCCATGCCCAGTGTTGTAAAAGGCTAAAGAGTAAGA CAGACAATTTCAACTACAATCTTATGGCTTATAATATAACATCAACATTA ATTCTTAAATTTTCATAAAAGCATGTACATGTTAAGAACATACAAAGAGA TTCATGCATTTAATGAGGTGTTGAATAAATTAAGACTAGTGCATTGAGAT TACACAGTACCTCCTCCAATTAGTCAGGAAACTTTCCTAGAGAAGGGAGG AATTATTCCAAGGACAGTAATCTGATAGACTGACTAATTTTACATTTCCC TGATTGTTTTAATAGCTTTAAGCACACCACATATTGCAGTGAGATACACA AAATAAAAAACAAGGTAAACATCCAAACTCCAAAGCTGGCATACGCACTC GTTTCCACTTTTTCACTAGGATAAGAAGGCTTAGTTAGCTATGTTTAGCC ATAACAGAAACAAAGACAGAATGCAAAAATTAGATTATGTTTTTCTCTTT TAATTAGAACATACACAAGGAATCAGAAATGAAAATGCCTTCTCTATTCC TCTAATCGCAAACTCCTGACAAATCTTATAATGTAAAATAGCAAATACTC TAAAAAATATACTCTCTAATGGTAGAGTTTCACAAACTTATATAATTAGA AAACTCTATAAAAACTAATAAAGAACAAAGTCAATACAAATACTACAATG AATGGATGTTAAACAGAAATGATATCCTTAGGAAACAATCTTGACACTAT GAAAGTTTACAATAGGGAAAGATGGCTTCTAATTAGCTACAAAAACTATG AAACGCTTTGTAGCATTTAGGCTAGATCTTGGAGGATTTCTAAGATTTGG TCACAAGGAAATGCAAGAAAGACAATCAAAAGGAAGAGCATAAGTGGAAG CAATGATGCTAGAAAGCACTGGGAATAATGAATAGTTATATTTGACTACA ACAATTAAACATAAGATGAACTTTACTCACTAGAGTATCAAAAAGAACAT TAAAAAATAATTTCTCAGACATTATATAATTAGCCCACAAGTATAACGCA TTTGTTTCAGATGGTGGTGACAATATCCATATGAGGTTTAAAATATACAC ATAAAAATAATTAATCAACTACAGGAAGCAGAGACTGAACAAAAGGGGAA TTTCATTCATTCATTTAACATGTTTTTATAAAAACTTCCTTTTTATTTTT GAGACTGAGTCTCACTCTGTCACCTAGGCTAGAGTGCAGTGGCACCGTCT CGACTCACTGCAACCTCCACCTCCCAGGTTCAAGTGTTTCTCTTACCTCA GCCTCCCGAATAGCTGGGATTACAGGCATGTGCCACCAAGCCCGACTAAT TTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTC TTGAACCTCTGATCTCAAGTGATCCACCCGCCTCGGCCTATCAAAGTGCT AGCATTACAGACATGAGCCACCGCGCCCAGCAATAAAAACTTCCTAGTAT ATTCACTAGCACTCTGATACCTATGATAGTGACATAAGGGCAGCCTAACA TAACGATTTCTAAATACTGCATTGTCGGCCGGGTGCGGTGGCTCAAGCTT GTAATCCCAGCACTTTG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG02965.hp2 others(1): Show HG01884.hp1 HG02145.hp1 HG02965.hp2 NA18906.hp2	a0006 a0009 a0006 a0009	a0006c0009 a0009c0010 a0006c0009 a0009c0010	a0006c0009t0014 a0009c0010t0017 a0006c0009t0014 a0009c0010t0017	a0006c0009t0014g0245 a0006c0009t0014g0246 a0009c0010t0017g0243 others(1): Show a0006c0009t0014g0245 a0006c0009t0014g0246 a0009c0010t0017g0243 a0009c0010t0017g0244	4	336	0.0119	-2416	c.830 others(15): Show c.830+560_831-494del	CENPC	ENSG00000145241.11	transcript	ENST00000273853.11	protein_coding	7/18			chr4	TogoVar
SDHA_chr5_213320_262082	259666	GAGCATTA others(2409): Show GAGCATTACCGTGTGAGCTCCGCCCCCCGCCACAGCATTACCGTGTGAGC TCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGC ATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCG CCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTA CCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTC CCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGT GTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCCA CAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGA GCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGA GCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTC CGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCGTCAGAGCATT ACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCT CCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCG TGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCG CCAGAGCATTACCGTGTGAGCTCCGCCTCCCGACAGAGCATTACCGTGTG AGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAC AGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCT CCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCA TTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGC CTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTAC CGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCC CGACAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTG TGAGCTCCGCCTCCCGACAGAGCATTACCGTGTGAGCTCCGCCTCCTGCC AGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAG CTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAG CATTACCGTGTGAGCTCCGCCCCCCGCCACAGCATTACCGTGTGAGCTCC GCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATT ACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCT CCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCG TGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCG TCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTG AGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAC AGCATTACCGTGTGAGCTCCGCCTCCCCGCAGAGCATTACCGTGTGAGCT CCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCA TTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGC CTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTAC CGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCC CGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTG TGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTC ACAGCATTACCGTGTGAGCTCCGCCTCCCCACAGAGCATTACCGTGTGAG CTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAG CATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCC GCCCCCCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGACAGAGCATT ACCGTGTGAGCTCCGCCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCC TCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACC GTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCC GTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGT GAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCA CAGCATTACCGTGTGAG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	260	0.0038	-2416	c.32 others(11): Show c.3247_*5662del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		2585		chr5	TogoVar
CCSER1_chr4_90122394_91610295	91551689	ACACACAC others(2408): Show ACACACACACACAATCAGTCAAGGCCGAAGCACTCAAGATGGAGGACTTT GCAATGTACTACCAGGAAATTATTCTTTTATTAATTTATATTTCCAAAGA AGAGATCATTTACACACAAAAGGTCACTTTTTTGCATGTTTTATTGAGAT TTTGTTCCTGAAAATGAACTTCTTTCCTTTTAGTGTGCTGACAAACATCA GAACTGTCAAACATCAACATTTGTAATTATAACTTGAGCTTAAAGTAGAG GCAAAAGGGAGGGGAAAAATGCTGTGGCAGTTTGAATTTTGACAAATTTC AATGTAGTAGGAAATTCTGATATTGAAATCAAAATTAGTATTGTCTTTTC ATTTTATGGTATATAGAAGAAATAAGTTCATTTTTTAAGATAAAAATTTG AATATAATTTTTAATGTATGACATAAAATCTCTAATTCAAGTATGTGCTC AGATGGCTAAACTACCCTCAAATTTGCATAGACAAGAGATTTTAGCATGT TACAGCCCAATAACATTTTATTCAATGATGCTGAGTTAGAATCCAATGTG CTTAAGCTGATAAATGTAATGAATAATTAGAGACCCTCAAATATTCTTAT TAATCAATCTATTATTTAATTTAGCAAGTATTTCCAAACATAAATTACTT TCCAGGCACCATTCTGAGGCCTGAGGATACAGAAAAGAATGAGACACTGT CTTGAAGGAACTTACATTCTTGGGGCTAGAAATTAATAATCAATAACCAA TCAAGTAATTAACAAGATCATTATACAGAGTCATAATTTGGGTTGATGTG ATAAAGAATGAGAGGATGGGTGGTATGCTTCTTTATATTTAGAGCTAGAG GTCCCTCTAAGACAGTGTATTTGGACAGTGGCCTTATATATGACAAAAGG AACTACAGTAGTTCATTTTATACACTGGAAGATGTATAAGTGGAATGCTC AAAAGAGTGGAAGCAACAAGGCTGACTGTGGATTTAGCTTGTCATGCTAA AACAGAAGAAATGCAACTGAGTTTTGCATGTTGATTTTATATCTTGCAAC TTTACTGAATTTCTTTTTTAATTCTAACAATTTTCTTGGTGGAGGTCTTA GGATTTTCTATATATTAGATTCTATCATCTAAAAAAAGATAATTTTTTCT TCCTTTTTTATTTGGAGGTCTTTAATTTCTTTTTCTTGCTTAATTGCTCT ACATAGGATGTCCAATACTATATCAAATAGAACTGGCAAGTGTGGACATC CTTGTCTTTTTGCTGATCTTAGAGGACAAGATTTCGGATTCTCACCATTG AATATAACGTTAGCTGTGATTTGTTTTGTATTATATATAAGACAGGCCTA GTAAGAGGCCTTTATTATGTTGAGAGACGTATATTCTACACTTAATTTTT TGAGTATTTTTATCATGAAAGGATGTTGAATTTTGTGAAATGCTTTTCTG CATCTATTGAGATGATTATATGATTTCTATTCTTCATTTTGTTAATGTGT TAGATCACATTTTTTGACTTGCAGATGTTGAACATCCTTGCATCTCAGTG ATGAATCCCACTTGATCATAGTGTATGATCCTTTTCAATGGCCTGTTAAG CTCTACTTGCCAGTATTTTATTGAAGGATTTTTGCATCTATGTTCATCAA GGTTATTGGCCTATAATTTTTATTCTTACAATGTTCTTGTCTGGCTATGG TATCAGGGTCATTCTGGCCTCATAAAATGAGTTTGAAAGCATTCCCTCTT CTTTAATATTTTAAGAAAGATAGATATTAATTGTGTTTTAAATGTTTGGT AGATTTCAGCAATGAATCCATGAAGTCCTGGGCTTCTCTTCGTCGGGAGA TATTTTACTGATTCAATCTCCTTACTTACGGGAATTTTTTTTTTGTCTTC AGTCTCCTTACTTATTATTAGCTTTTTCAAGTTTTTGTATTTCTGCATGA ATTAGCTTTGGTAGGTTGCATTTTTCTATAAATTTATCCATTTCTACTAA ATTATTCAATTTGTTGTTGCTCAATTACTTATAGTAGCCTCATAATCTTT CTAATTCTGCAGTATCAGTTGTAGAGTCTTCTTCTCTTTCATGTATAATT TTATTGATTTATATATCCACTCTTTTTTCTTTTAGTCTAGCTAAAGGTTT ATCAATTTTTTAAAAAAAACCAATATATTTGATATTTTCTATTATAATTC TTGTGTCTCATATATTCTCTAATCTTCATTATTTTTTCTTCTAATTTTCA GCTTGGTTTTTTCTTTTTACTTAATGTGTATAGCTTATTGTTTACTTGAG ATCTTGCTTATTTTCTTAATGTAAGCATTTATCATTATAAACTTCCTTCT TAGAAATGCTTTCACTGCCTTCTGTAAGTTTTGGTATATTGTGCTCTCAT TTTCCTTAGTCTCAAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02886.hp1 HG01884.hp2 HG02886.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0005 a0003c0005t0005 a0001c0001t0005 a0003c0005t0005	a0001c0001t0005g0017 a0003c0005t0005g0011 a0001c0001t0005g0017 a0003c0005t0005g0011	2	38	0.0526	-2415	c.221 others(21): Show c.2218-46882_2218-44468del	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	10/10			chr4	TogoVar
GAL3ST2_chr2_241771822_241809287	241805563	CCCCTCAG others(2408): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAG GCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCC CAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTC CCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGG GACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	292	0.0034	-2415	c.13 others(11): Show c.1398_*3812del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1277		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805563	CCCCTCAG others(2408): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAG GCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCC CAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTC CCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGG GACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0139 a0002c0003t0002g0139	1	297	0.0034	-2415	c.-37 others(11): Show c.-3714_-1300del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3629		chr2	TogoVar
CPPED1_chr16_12654799_12808887	12806473	CGGAGGTT others(2407): Show CGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGTGAA AGAGCAAGACTCTGTCTGAAAAACGAACAAACAAACAAAAAAGTATCTTC CCCTGCTGAGCTAAAGCCCATTTGAACATGAAGGCCTGCAGTTAAATAAC ACTTCTGTGGAGAGGCCATGCCCTACCCATTTGCACACTTTGCTGATCTA AACTAGGCCTCCCTCATTCTTTGTTAGAGCACTATGTTCTTGTCCCTTGT TGCACTTTGCACAGTTGATAATTATATGTTTTCAGGTGTAATTATTTATT TAATGTTGACTTTCCCGACTCAACTATAAGGTCTATTAAGTTGGTTACCT TTTTAAAAAATTTACTGTTTTGGCCGGGCACAGTGTCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATTTGAGGTCAGGAGAT CGAGACCAGTCTGGCCAACATGGTGAAACCCCATCTGTACTGAAAATATA AAAATTAGGTAGGCATGGGAGCACGCCTGTAATCCCAGCTACTTGGGAGG CTAAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGGGCC AAGATCGTGCCACTGCACTCTAGCCTGAGTGACGAAGTGAGACTCTGTCT CAAAAAAAAAATTATTATTTATAAAGATGGTGTCTCACTGTTATCCAGGC TGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAA GTGTTAGGATTACAAGCATGAGCCGCCACGCCCAGCTGAGGGCAGTTACC TTGACTGTCTAGCTCACCAAGCAGGATGCCTGAGGCATAGACACTAAATG TTTGTTGCATTAATAAATAAATGGATTATGAATATCTCAACAAGATAACC ATATTTTGAACCTCAGCAGCAATTGGGAATAGATCTATAGGCCAATCTGG AGCAACTTCAAAACTGTACCAGTGCATTGGATGATAGCAATAGCTGCAAT TGTGAAAGGAAAATAAATATTGAGACCCCAAAATCACTAAGCCAAGGGGA AAAGTCAGGCTGGGAGCTGCTTAGGGCAAACCTGCCTCCCACTCTATTGC TGAAACAGACAGCTACTAAGGCTGGGTACAGTGGCTTACACCTGTTATCC CAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGGTCAGGAGTTTG AGACCAGCCTGGCCAACATGGTGAGACATCCATCTGTACTAAAAATACAA AAACTAGCCAGTTGTAGTGGTGCATGCCTATAATCCCAGCTACTCGGGAG GTTGAGGCAGGAGAATCGCTTCAAACCACAAGACGGAGGTTGCAGTGAGC TGAGATTGTGCCACTGCGCTCCAGCCTGGGTGACAGAAGGAAACTGTCTC AAAAAAAAAAAAAAAAAAACCTACTAAGATAAAAAAGCTACGTACGTCGC TCAGAAGGAATTTCCTTGTAGACAAAGGACAGACAGAACTCAAAGTTATC CCTCTGCTCACTGAGATAAATGCATTTCTGACTGCCTCCTCTGGAAAAGC TAATCAGAAACTGGAAAGAATGCAACCTTTTTTTTTTTTTATTCCCCCGA GACAGAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCT GCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTCCCTCAGT CTCCTAGGTAGCTGGGGTTACAGGCATCTGCCACCACGCCCAGCTAATTT TTGTATTTTTAGTAGAGACGGGGTTTTGCCGTGTTGGCCAGGCTGGTCTT GAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGTCTCCCAAAGTCCTGG GATTACAGGCATGAGCCACCGTGCCCAGCCACCTTTTGTCTCTTATCTAC CTGTGACCTGGAAGCCCCCTCCCCACTTCGGGTTGTCTCGCCTTTCCAGA CGGAACCAATGTACATCTTACATATATTGATTGATGTCTCATGCCTCCCT AGAATGTATAAAACCAAGCTGTGCCCCGACCACCTTGGCACGTGTCATCA GGACCTCCCAAGGCTATGTCATGGGTGCACATCCTTAACTTTGGCAAAGT AAACTTCCTAAATTGTCTGAGAACTGTCTCAGACATTTGGGGTTCACACT TTTTTTCTTTTTTGAGACAGAGTTTTGCTCTTGTCGCCCAGGCTGGAGTG CAGTGGTGTGATCTTGGCTCACTGCAACCTTTGCCTCCGGGGTTCAAGTG ATTCTCCTGCCTAAGCCTCCCAAGTAGCTGGGATTACAGGTGCATGCCAC CATGCTAGGCTAATTTTGTAGTTTTAGTAGAGACAGAGTTTTACCATGTT GGTCAGGCCGGTCTTCAACTGCTGACCTCAAGTGGTCCACCTGCCTCGGC CTCCCAAAGTGCTGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02559.hp1 HG03139.hp1 HG01891.hp2 HG02559.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0015 a0002c0002t0004 a0002c0002t0015	a0002c0002t0004g0012 a0002c0002t0004g0015 a0002c0002t0015g0016 a0002c0002t0004g0012 a0002c0002t0004g0015 a0002c0002t0015g0016	3	288	0.0104	-2414	c.-51 others(11): Show c.-5111_-2698del	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding		2587		chr16	TogoVar
HHAT_chr1_210323902_210681290	210549122	GATAATAA others(2407): Show GATAATAACGGCATTTACCTTGTAGGGTTGTTGTGAGGATCAAATGGCAT AACACATGTAAAGCTCTAAGGTAGGCATGATTGTTGTTTTTGTTATTTGT AATTGTTTTTATTACTGTGGGTGAGGAAAGAATGATCAGATGTTGTCTGT TTTTCAGTTTAGGTTTCTATAATGAAGGGTTGGTATTGAGCCATTGGCAA TAAAGCCTTTTAGGAAATGCATTTTGTCAGTTACCTGTGAAGGATGGATT GGCAGAGTGTGGTATTGTGGGGAGGTTTATATTCAGAGTCCATGGTTCTC TGAAGTCTAGGGTAAGCTGGCAGGACTTCCTGAATTCCTGAAATTATAAG AAGAAGAGTGTGCAAAGGGGTGAGAATCCATAGTTCTAGTCAGTCAGTGC TCAAAGGCCATTTGATGGGAAGACATCCATATGCCTACAGGGTCTGGTAA TAAGGAGACCTGAGTTTTAGGTTCACCATTTACTTGGAAGAGTTGTGGGC AATTTAGACTTCATTTTTTCCTCTTTGTAAAGTGAGCAGAATAATACATC TCTGTTTACCATATGGCATTATGATAGGATAAAAATAAAGAAGCTGGGTA CAGTGGTGTACGCCTGTAGTCCCAGCTACTTGGGAGGCTGTGGTAGGAGG ATGGCTTGAGCCCGGGAGTTTAAGGCCAGCCTGGGCAACATAGCAAGAAC CCATCTCAAAGCAGTTTGAGAAGATTAAGATATCCATAAATAGAATAAAT TCTGTTGTTCAGTTGAATCATACTACTCACTTGCATTCTGCCTTTCTAAA AAAACAGAGTTGTCATCTATCCTGGGACACATGTACCAAGGGCTCATCAG AGCCACAGAAGAGAATGTTTACTGTCTCTACTCACCCCCTTATCCACTAT CCTCCCCAGGCACTGTGCCGATTTTCAACTGCAAGCCTTTGTGCTGTTTC CTGAAGTATTTGTTCTTTCTACTTCTGATCATCTAAACTCCACTCATCCT TTCATGCCTAGCTTATGTCTCACCTCTTCCCTAAAGCTGTTTGATTATTC CAGCCACACAGACTTCTCTCTTTTCTGAAATCTGCAGATCAGCACTGACT TATTCTTCAGCTGGCTGAGATTTCTAACTCCTTTGTAAATGCCTTGGGTA TAAGAGCCATGGTTAGTTAATATATGTACATCCAAAAGCACATGAAAGAG AAGAAATCTGTCTGTACAGTAGAAAAAGCACAATGGAGAATGGCTCCTTC TCTCTGCCTTTTACCCTGTGTGTGTCCTTGGGTAAGTTATTTAAACTCCT TTGAACTTCAGTTTCCTCAACTGTAAAATGGTGATAATACCTACTTCAGG ACTGCTGTTCAGCTTAAATGATATGAAGCTGTGAGCACGGTAACGAGCAC ATAGTAGGTATTCAGTTAATGTTGTTTTGACCCCCTTCTCTCCTGCAGGG GAAGACTAGGGATGAGGGAGAGAGGTGGAAAGGAGATACTGTTAACCCCA CCAAAACTCAACATTGAATTATCAGTGGCTTGCCTAATCTACAGAAGTGA TGCCTTTTTTGTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAG TGCAGTGGCATGATCTCAGCCCACTGCACCCTCTGCCTCCTGGGTTCAAG TGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCATACGCT ACCACCCCCAGATAATTTGTATTTTTAGTAGAGACAGGGTTTCACCATGT TGGCCAGGCTGGTCTTGAACTCTTGACCTTAAGTGATCCACCCACCTTGG CCTCCCAAAGCTCTAGGATTACAGGTGTGAGCGACCACTCCTGGCCCAGA AGTGATGACTTTTTAAACAGGAGTGAGAACTTCTCCTAAAGACTGACACA GAGCTAAAGGACAAAGGGGATGTAAGAATCCTGACATCAGCTAGAGTCTG AGTTTCAGTAGTAAGTTAGCCCAGATCTGTGGGTTTTTATAAAAGAACTC CATGTGGCTGGAATAATCAAATGTCTTGGCTCTTCTCTGAAGCCCAGGGT TCCTTGTAGGATGTGATATGTACTCCATCGACCGAATTAAAGTGCCTTCA GAGGTTCTTAGTGCGGCCCGCTGCAAAGCCCAGGGAGAGAGGGGATGTCC CAGCGGCGAGCAAAAGCAGAATCCTTAGCACCCCCGACCCATGGGGAACT GGAAGGTGGGGACCAGTGCGACTCATCACAGTTCTGAAGATTCTGCACCA TTTAGAGACAGTGCAGATTTAGCAATTATTCTGAAAACTCTAACCCTGCT AGAAGATTGGTAGGTTTATTTTTGTTTTTTAAATTGTGTTTCTGAGTAAC CCCCTAGGACAGCCTGCTGGGCTGTTGGCTCCAGAGACCAGGCAACAATG ACTTTAAAGTGATTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp2 others(50): Show HG00099.hp1 HG00280.hp2 HG00408.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG01081.hp1 HG01192.hp1 HG01261.hp1 HG01346.hp2 HG01891.hp2 HG01934.hp2 HG01975.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02257.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02559.hp1 HG03486.hp1 HG04184.hp2 NA18522.hp2 NA18939.hp2 NA18944.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18965.hp1 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18974.hp2 NA18985.hp1 NA18989.hp1 NA18998.hp1 NA18998.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19063.hp2 NA19079.hp1 NA19086.hp1 NA19086.hp2 NA19091.hp2 NA20300.hp1 NA20905.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0007	a0001c0001 a0001c0002 a0001c0013 others(5): Show a0001c0001 a0001c0002 a0001c0013 a0002c0003 a0002c0009 a0004c0012 a0005c0008 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0019 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0021 a0001c0013t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0009t0001 a0004c0012t0002 a0005c0008t0003 a0007c0011t0004	a0001c0001t0001g0014 a0001c0001t0001g0094 a0001c0001t0001g0098 others(50): Show a0001c0001t0001g0014 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0117 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0002g0007 a0001c0001t0002g0072 a0001c0001t0002g0116 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0158 a0001c0001t0003g0103 a0001c0001t0003g0181 a0001c0001t0003g0190 a0001c0001t0003g0232 a0001c0001t0003g0244 a0001c0001t0004g0115 a0001c0001t0004g0163 a0001c0001t0005g0179 a0001c0001t0005g0203 a0001c0001t0006g0114 a0001c0001t0007g0202 a0001c0001t0019g0214 a0001c0002t0001g0036 a0001c0002t0001g0039 a0001c0002t0001g0228 a0001c0002t0002g0032 a0001c0002t0002g0038 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0229 a0001c0002t0003g0059 a0001c0002t0003g0245 a0001c0002t0021g0019 a0001c0013t0002g0041 a0002c0003t0001g0120 a0002c0003t0001g0121 a0002c0003t0001g0237 a0002c0003t0001g0249 a0002c0003t0001g0260 a0002c0003t0002g0109 a0002c0003t0002g0259 a0002c0003t0002g0264 a0002c0003t0004g0119 a0002c0009t0001g0266 a0004c0012t0002g0166 a0005c0008t0003g0253 a0007c0011t0004g0142	53	266	0.1992	-2414	c.104 others(21): Show c.1043+35937_1044-36360del	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ADAMTSL3_chr15_83649123_84044842	83872682	CAACTTGG others(2403): Show CAACTTGGAGGTCCTTGACTGAATAGGAGACATTAATACAATGATGAAAC GAGGAAAGTACCCACAAAGATTAGTATTTCAAGATATTGTTTGGTTACAG TGTCAGCATCAGTAGATCTTAATAATATATTGTTTATTGACACCATTTAT AAAAACACACATAAGCTGCATATTTCTATGAGTTTGTATGTACACACACG TATATGTATATGTATATTTTTAAAAATAATTTGGAAGGATACATTTCAAA ATGGAAACACTGAAAACAACAGTGACTATTTTAGAGGGGATAACATTTTG TAATATCTAATTCTTAAAATAATGTTTAAAAGGAAGAATGTGGCTGGGCG TGGTGGCTCATGCCTGTAATCCCAGCACTTAGGGAGGCCAAGGCGGGTGG ATCACCTGAGGTCAGGAGTTCTAGACCAGCCTGTCCAACATGATGAAACC TCATCTCTACTAAAAATACAAAAATAGCCGGACGTGGTGGCACGCACCTG TAATCCCAGCCACTCAGGGGGCTGAGGCAGGAGAATTACTCCAACCCAGG AGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCATTCCAGCCTGGG CAACAGAGCAAGACTCCATCTCAAAAAAATAGTAATTAAAAAAATAAATA ATAAAAAGTAAATGGAAGAATGAATTCTTTTGAAGTGGCCAAGTCAAGTA GTTGAATTTGAATTCATTTTTATACCATTGGTTTTTTTTGTTTGTTTGTT TTTGAGATAGGGTCTTGCTCTGTCACCCAGGCCAAGTACAGGCTGCAAGT AATCCTCTGGCCTCAGCCTCCCAACTACCTGGAACTACAGGCACACAACC CCACAGCCACCTAATTATTAATTTTTTTGTAGAGACAGAGTCTCACTATG TTACCCAGGCTGGCCTTGAACTCCTGGGCTCAAGCAACGCTCCTGCCTCA GCCTCCTAAAGAGCTGGGATTAGAGGTGTGAGCCACCATGGCTGGCCACA TACTTTTATTATAAAACTCATTTTCCTCATCAAACAGTGGTAATACACTT TTGCAAATGTTAATGTGCATTTCTCTTTTGCCATTCTCTGTACTTCACCA TCTGCTTTGTCAGCAGAGCTGTTTGCCCTGCGGATTTGACAGCAGTGGTA TGGCAGGTGAGTGATTAGCAGGAGTGCAAGAGAAAGCATTCATGCTCATC TTTTCATGATTAAAGTAGGGTTATTATTATTTTTAGCTTAGTCTTTTGTT TTGACAGCCACCCTTAGTGGAGAGAGATGAAGATTTTCCAAATTGATTTA GTCCCCATAACATTTCCAGGGCCAAGCCCGGGGTCCTAACCCATAGCACA TCTTCTATAACATGGAGAGGATGCTCCTTTCTCCAGTAAGGCTGCACCTC GGTCTAGTGTCCTCAGGAGGATGTGCACCACAGGGCATGTCCAGCCAGGA TGTGGAAAGCCTTCTCCCTCTCCTGGCGCCAGGACAAAGGAAGCGGGCAG CGAGCCATGAAATTCATGATGGTGGTTGCTCTCCAGGGCAGGGAGGCTTT CAGGGAAAGCCAAAAGCAGAAAAGGAGCTTTTGCTCCCATCCCACGCAGA GCTCCCAGAGGAAAGCGCCTCATAGGGATCCCACCTCCATCAGCAGCAAC CCAGAGAAGCCACATGAGAGTGAAAGTGGAATTAGTGCCATGAAATGTTT AGTCACAGGTTGAGTCTCCCCGGAGTCTCCTTCAGTTCCTGAGTGGTAAT GGAAGACATCTAGAAAATTTAGTGTACTCCTGACTGGCCAGGGGGTGACA TGGTGCTGGCAAAATGACCCTTTAGCGGAGAGGTGTAGGTAGAGAGACTA TGGGTCCTATTTTGTTCAGAAAAGGCCCAGTTTGTGCCTGTTACCCCTGC TTAATTGTTAGTAGCTCCTCCTTTCACTCTCAGAGCCATCCTGGCATGAA CAATAAAGCCGATGGTCTCCCTAGATGCAGAGCTCTAAAGCCAGCCAAGG ATTGGATAGGGGTCCCAGCCACACCACCGAGAACGTGCAGCAAGACAAGA ATGACAGTGTCGAGGGACTAGGGGAAAGATAGTGTGCTCACTGGCAGCAA TTAGGGCCCATCTGAGGATATCATGCATGGATTTGAGTAAGTTGCTGTGT ATTTGCCCTGCACTGAAAGTAAAAGGCACTGGTCCAGGTGTCACATGTGA ACAAGACGATGTGATCTCCGGAAGCCCGGTAGGCGTTTGTCTTTCTTGTG GACCTTCTCAGCGAGGAAACCTCAGAAACTCCACAGTAGACCTTTTACCA CCTCTCATCGACAAGAATTGGGTCACGTGCCCACTCTATACCATCCACCA CTGTGTTCATCTGGGTCCTCTAAGAATCAAATGCCAAGGCAGGATGAGAA GTGAAAGAAAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp2 others(69): Show HG00099.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00735.hp2 HG00738.hp1 HG01167.hp2 HG01346.hp1 HG01496.hp2 HG02027.hp1 HG02109.hp1 HG02129.hp2 HG02145.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02572.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp2 HG03704.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18944.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18954.hp1 NA18957.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18981.hp2 NA18986.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA19002.hp1 NA19009.hp1 NA19010.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19068.hp2 NA19077.hp2 NA19079.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp2	a0001 a0002 a0010 others(8): Show a0001 a0002 a0010 a0013 a0023 a0026 a0029 a0030 a0032 a0035 a0040	a0001c0001 a0001c0057 a0002c0008 others(10): Show a0001c0001 a0001c0057 a0002c0008 a0002c0039 a0010c0012 a0013c0035 a0023c0061 a0026c0063 a0029c0053 a0030c0062 a0032c0050 a0035c0065 a0040c0041	a0001c0001t0001 a0001c0001t0006 a0001c0057t0001 others(12): Show a0001c0001t0001 a0001c0001t0006 a0001c0057t0001 a0002c0008t0001 a0002c0039t0001 a0010c0012t0001 a0010c0012t0007 a0013c0035t0001 a0023c0061t0001 a0026c0063t0011 a0029c0053t0001 a0030c0062t0001 a0032c0050t0001 a0035c0065t0008 a0040c0041t0001	a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0001t0001g0067 others(69): Show a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0149 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0222 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0006g0183 a0001c0057t0001g0094 a0002c0008t0001g0035 a0002c0008t0001g0093 a0002c0008t0001g0161 a0002c0008t0001g0176 a0002c0008t0001g0177 a0002c0008t0001g0239 a0002c0008t0001g0241 a0002c0039t0001g0058 a0010c0012t0001g0038 a0010c0012t0001g0130 a0010c0012t0001g0133 a0010c0012t0007g0071 a0013c0035t0001g0175 a0023c0061t0001g0118 a0026c0063t0011g0057 a0029c0053t0001g0244 a0030c0062t0001g0037 a0032c0050t0001g0003 a0035c0065t0008g0036 a0040c0041t0001g0078	72	272	0.2647	-2410	c.960 others(17): Show c.960+1724_960+4133del	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	9/29			chr15	TogoVar
CBX1_chr17_48065059_48106478	48082503	AAAAAAAA others(2401): Show AAAAAAAAAAAAAAAAAAAAAAAGGAAAAATGATCTATAATTTTATTTAT TTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGACGCAAT ATCAGTTCACTGCAACCTCCACCTCCCAGGTTCAAATGATCCTCTTCCTT AGCCTCCCGAGTAGCTGGGACTACAGATGCACACCACCACTCCTGGCTAA TTTTTTTGTATTTTTAGTAAAGACGTGGTTTCACCATGTTGGCCAGGCTG GTCTCAAACGCTTGACCTCAAGTAATCCGCCCACCTCAGCCTCCCAAAGT GCTGGGATTACAGGCGTAAGCCACTGTGCCAGGTAATTTTATTTTTTTTT AATGACACAATTATCTTTTTTTTTTTTTTTTGAGACGGAATTTCGCTCTT GTCACCCAGGCTGGAGTGCAACAACGCGATCTCAGCTCACCACCACCTCG GCTTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ATTATTGGCATGCACCACCATGCCCAGCTAATTTTGTATCTTTAGTAGAG ACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCAGG TGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGAATGAGCC ACTGCACCTGGCCTAATTTTTATTTATTTATTTATTTTTTAAAGACAGGG TTTCACTATGTCACCCAGGCTGTTCTTGAACTCCTGGACTCCAGTGATCC TCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTAAGCCATCATG CCTGGTCAATTACCACTTTGTAAATTCCACCTGCACCCCTATTGTCAGGG GTACCTAGTGGCCTTTCCAGAATCCTGTGACACAAACTGGTTTGTTGTAC CTTCTTGGCTCTTCCTAAATCCAGTCCTACTTAATTTTTAGCTTTTTCTG GTCAGTAACTAGTTTTCCAGCTGTTTTCTGACATCTCTACTTGTCTTTTT CCTATTTTTCTTGTCTCTTTAAAAATCTTCTTATTGGCCAGGTGGCGTGG TGGCTCACGCCTGTAATCCCAGTAATTTGGGAGGCCGAGGTGAGCGGATC ACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGATACCCTG TCTCTGCTAAAAATCCAAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGT AATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTGGAACCTGGGA GGCAGAGGTTACAGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGC GACAAAAGCGAAACTCCATCCCCCCTCCAAAAAAAAAATCCTTTGACCAT TACTTGTGTGAGATTTTCAAAAGGAGTAGAACCATGTAGTTCAACCAGCC ATGTTTATCTGCAAAGTTTCACTGAAGTATCTAATAATAGTGAGTGCTTA TTATGTGCCAGGTACTATTACAAACACTTTACTCATTTATTTAAAAAATT TTGTTTAGACACAGGGTGTCGCTCTGTTGCCCAGTACGGTGGCCTGATCA TAACTCACTGCAGCCTCGACCTCCTGGGCTCAAGCCATCCTCCCAAGTAG CTGGGACTACAGGCTTGTACCACCAAACCTGGCTAATTTTTTCAATTTTT TCTGGTGGAGACAAGGTGTTCCTATGTTGTTCAGGCTTCTCTTTCTTTCC TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTAC CCAGGCTGGAGTGCAGTGGTGCTAATCATCATGCTCACTGAACCTCCGCC TCCAGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATT ACAGGTGCGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGAC AGGTCGCCATGTTGCTCAGCCTGGTCTCCAACTCCTGACCTCGTGATCCA CCCGCCTCAGCCTCCCAAAGTGCTGGGATAACAGGCGTGAGCCACTGTGC CGGGCGCCAAGCTTCTGTTAAACTCCTGGCCTCACACAATTCTCTCGCTT TGGCCTCCCCAAGTGTTGGGATTACAGGCATGAACCATGGCGCCCTGCCT ACTCATTTATTATTTACAATACTCCCGGCCGGGCATGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAATGT ACAAAAAATTAGCTGGGCGTGATGGCGGGCACCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGACGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02145.hp2 others(13): Show HG02055.hp1 HG02109.hp2 HG02145.hp2 HG02280.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG03130.hp2 HG03139.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG06807.hp1 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0029 others(11): Show a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0064	16	394	0.0406	-2408	c.-37 others(17): Show c.-37-7870_-37-5463del	CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	1/4			chr17	TogoVar
KCNJ11_chr11_17380248_17393659	17382091	TTAGTGCC others(2401): Show TTAGTGCCCTAGACGGGTAGCTCTGGCAGAGGGGCTGCCAATAACCCAGA ATCCAGCACAACGAAAGGCACTTCTGGCCCAGCTCTGACTAACCCCACTG TTCTTCCTTTCCCCAGCTTCTTTCAAGCTGGAATCAATCTGTTGTTCTTC GGACCTGAGGTCAACATGACTTTGATGAACGGAATTCATGTCTTCTTGCT AAAGTTATCTGGACACTTGGTACAACACAGAGTGTCTGATATCTGGGCCT GGGGAGACCTCAGAGGCCCTGGGGAGCCCAGAGACTTGTGGAGTGTCAGG GCAGCTCTCCTGCTGTGAATGCAAGCTCCCTGGGAAAGTTCTCCCTAGAA AAAGATGTGGGGGAGGAGCTCAGGTGAAGGACAGAGCCTCCTGCCCGTGG AGAGAAAGTGGGCCCTGGAGAAGCTGCATGAGTCCTCTCCAGCAGAAGGG CCAGAGGTGCACATTAGTGGGGCTCGGGTGGGTCTCATGGTGACATTGGC TGGAGATGCCAAATCCACAGGCGTTAGGCCTGGGCAGGTTCTAGTGTGCG AGTGGGCTAGTTTTTCTAGACTAGCACACAGGAAGAGGGTGGCCTGGCTT GCCTTCCCTCTGAAGCTCAGGACTGAGGCCCAGGACATGTCTCACACCAT TGATATGAGTTGGGGACAGATGGGTGGCAGATGTGCCCAATCAGGCTGCA TTGACACCTGACTGGCTGGAAGAAGAGCCTGTAAAGCAAAGAGCCCAGTC TTCCTGTAAGAAGGAAGAAGATGGAGGGCTCATCATGCACGTGGGCCAGA AAAAGTGCCAGTGAGGTTGTTCTGACTCCATAGGTGTTCTGGACATAATC TAGGCTGTCACAAAACAGCCAAGCCTGCTGCCAGTTTCCAATCTGGGATC TCAGGGAGGCCCAGGGGCTTGCTGAGTTCCACCTTCCCTCTTTCCCTTGG TTTGGAGACAACTTTCTCCCTGTGGTGAATGTGACACTTAGAACAAGGTG CAGCCCTACTAAAAGCTGGAGCTTAGGTCACTGGGACTGTGTGCTAGGGG AAAGAGGGGGAGGGAAGAGCAGGGCTGTGGCATTAGACAGACTTTGGCTG AAATCTTGGACCTGCCTCCTACTAGCTGTGAGATCTTAGCAAATTACTTC CTGCTATAGGCTAAATGTCTGTGTCCCCCTAAAATGCACATGTTAAATCC TGATGCCCAAGGTGATGGTATTTGGAAGCGGGGCCTTTGGGAGGTGATGA GGGTGGAATCCTCATGAATGGGATTAGTACCCTTATGTAACAAGGCCCCA GAGAGCTCCCTCACACCTTCCACCATGTAAGATTACAGGGGAAAGACAGG CCCTTCAGCAGACACTGAATCCACTGGCACCTTGATCTTGGACTTCCTAG CCTCCAGACTGTGAGTAATAAATGTCTATTGTTTATAAGCCACCCAGTCT ATGGTATTTTGTTATAGAAGCCTGAATGGTCTAAGACACCACCCTTTCTG ACCCTGTGTCCTCATCTACAAACTCAAAGAAGAACAGTGCTTCTCTCATA GTCCTGCTGGGCCACAGTGATACATGGTACTTCCCTTCTCCTTTTCAGGG GCCCTGGAGTTGAGACAGCTCTGCACATAGCGTGTGGATGGGCCAGACTG CTTCCTCTGCTGTCACATGATGACTAAGGGATGCAATCCTGGAGGCAGAA TATCACAAACAAAATTATCACAGAAGTTCCTGCTGGGCTGAGTAGTGCTC AGGTGAACTTCTTTGTCCAGTTGAGGCCAGTGCCATAGAGAAAGGGTGCC CCCAGATGGAGGTAGCACCATCAGTGGGCAAGAACACCTTCGCGGAGGAG GGAGGCTTGGTCGAACTGCCTCTCTATGCCTGGAGCTTTCCAGCCCCTCC CTGGGTTATGCCTTAAGGCTGGGGGTCTCCCTCAGAGTTGGTGGAAAACC TAGGACCAGTGGTCCTGATTTTTCTCTGCCGAAGTAAGTCTTCTCTGTGG CCAGCAGGTGGCGCTAAGCCCTCAGTTCTGTGGGCTTCACACTCACCAGC AGCTTAAGGTCCCTGAGGGGTGGAGGAAGGTTACTCTGGTTTGGGCTCCA AGGATGGTACTGCCAGCAGGTCCTTAGTGAGTCTGGCCTTTCTCCTTGGC CTTAATGGCAGCCAAGCTGAGTCGCAAGAGCCAGCCTCCTAGGATCCTGG GCTGACTCTGAGTAGCTTTCACCCCTTCACCCTCAAAACCAGAAATGGGT CAGCTCTGCAAGGAAGGGAATCAGCGCTGGGGACTGCATGGGTGCTGGGA GAGGGCAGCTTAGAGCTCAGACCAGCAGCGGCAACTTCCTGGCCCCTTGG CCCTGCCTCTGGAGCCGCCTGAGACAGACCCTCACTGATGCCCTGTCTGC AGGCCTCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0000 a0001c0001t0010g0000	1	420	0.0024	-2408	c.24 others(11): Show c.2420_*4827del	KCNJ11	ENSG00000187486.7	transcript	ENST00000339994.5	protein_coding		3156		chr11	TogoVar
GAL3ST2_chr2_241771822_241809287	241805236	CGCAGGCC others(2395): Show CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAA GGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCT GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCT CACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACC TCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	222	0.0045	-2402	c.10 others(11): Show c.1071_*3472del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		950		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805236	CGCAGGCC others(2395): Show CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAA GGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCT GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCT CACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACC TCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0093 a0001c0004t0001g0093	1	226	0.0044	-2402	c.-40 others(11): Show c.-4041_-1640del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3956		chr2	TogoVar
ADARB2_chr10_1172313_1742525	1237016	GCCTCCCG others(2389): Show GCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGC CTCCGGTGGTTAATTCCCTCTTGCCTCCGGTGGTTAACTCCCCCCTGCCT CCGGTTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCC GGGTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCCGG TGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCCTCCCGGT GTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGT TTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTT ACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTAC TCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTC CCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTCACTCCCCCCTGCCTCCCGGTGTTTACTCCCCT CTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCATCT CCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGC CTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCT CCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCG GTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGT GTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGT TTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTT ACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCCTGCCTCCCGGTGTTTA CTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACT CCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCC CTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCT GCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTGCCTC CCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCC GGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGG TGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTG TTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTAC TCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGGTGTTTACTC CCCTCTGCCTCCCGGTGTTCACTCCCCCTCTCCCTCCCGGTGTTTACTCC CCTCTGCCTCCCGGTGTTCACTCCCCCCTCCCTCCCGGTGTTCACTCCCC TCTCCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGTTCACTCCCCTCTGTCTCCCGGTGTTTACTCCCCTCTC CCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCTGCATCC CGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCG GTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGT GTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGT TTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACT CCCCTCTCCCTCCCTCTGGCGATACTCCCCTCTCCCTCCCGGTGTTTACT CCCCTCTTCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCC CCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCC TCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTC CCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGAGTTTACTCCCCTCTCCC TCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTC TCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTC CCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTCC CTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTC	G G	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0099 a0001c0001t0058g0099	1	81	0.0123	-2396	c.136 others(19): Show c.1361+2719_1362-3172del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
PCOLCE2_chr3_142812874_142894083	142891525	AATTACCT others(2387): Show AATTACCTCCACCTGGTCCCACCCTTGACACCTGGGGATTATTACAATTC AAGGTGAGATTTGGGTGGAGACACAGCCAAACCATATCAAGACTCAAGTG CACTTTGAAGGTATATGTAAGGTCCATCTCTGTGAGACCAGTTTCTGGAC TTGTGTGATAACAGAATTAGTATAATGGACAAGGAGCTACCCCCACAGGC AGTAGAAAAGTGGAGAGAGAAAAAGAACAAAAGCCCTGTGGGTAGATTCT TTAAAACAAAAAGTGGAGTGGTGGGTGAACTGATCCTTATTATCCAGCCT CTGCTGTTACCAGGTTGCACAGAGAATCAGCATCATGGGAATATGAAAAT ATTCACCAATGAACTGACCACTTATAAAATTAGGCCCCACTCAAACATTC CTTGCTACACAATGCTAGTATCTAGCTGGGCCCAATATGTCAACATTGTC AGCTAATCTCTGATTCACTCATCAACCTTGTAAACGTCTGAAAATGTCGT GTAAATCCATTGCACATTTATTCCATAGTGCGGTACTCATCTTGTAAAAA ATCCGGAATGTTCATAAGTTAGTTCACACTGGGCACGGTGGCTCAGGCCT GTAATCCCAGCACTTTGGGAGGCAGAGGTGGGCAGGTCACTTGAGCCCAG GAGTTCAAGATCAACCTGGCCAACATGGTGAAACCTTGTCTCTACCAAAA ATACAAACGTTAATTGGGCGTGGTGATGGGCGCCTGTAATCCCAGCTACT CGGGAGGCTGAGACACAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCA GCGAGCCGAGATCACGGCACTGCACTCCACCCTGGGCGACAGAGTGGGAT TCCATCTAAAAAAAAAAAAAATTCAGTGTTTTTTGATGTCTGTAAACACA CATTAGGAACAAACGTAGACCTTCCTCTTTCCCCTGCCCCACCTCAACAC ACCTCTCTGCCAAGAATAAGATATTAGGAATTGTACTGGTCAGGTTTCTT AGCTACAAACAACTGAGTCCACTCAGAATTTCAAGCAGAGCAGAAAGTTC ACATTATCATCAAAAGAATCATAGAAACAGTCTCAAAGCTCATTTTCCTG GAATAAGAGCCAAAACCTCGCCTCAGAAATGGCCAGTGAGAAATCTACTG CTATTATTGCCACCAAGACTAAGCACTAAATGCAGGTACTTGAACTTAAT GCAGTCACCGCTGTTGTGAGCACTTCAGATACATTTCTGCCCTGGGAAAT TCAACCTTACCACACTCCTGCCCCAAAGGCCAGACAGCCTATTGCCTCCT ACAGAATAAGAGAATCACAGAACCTCTTTGCTCACGGTGATCTCTTGATC AAACTCTCATGCAAGCCTATATGATTGGTAGTGTCCATGTCACATGACTT GCAGTGTCTCAGCCACAAGGGAGGCTGGGAATTCAGCACTATTAGAAGAT GAGGTTACATAATATAGAAATATCTCCAAATATTAAAAGGCTACTAAAAC AAAATGGGCAGGCACAAGTGTGATTAATGTCCATGATAAGGATCTACAAA GTTCAATTAGCCTGTCTCCTTGCATCCCTTTGCTGAGGAAAGCAGCCCCA AGGAGGTCTTGATATATGAAGTTGCAGAGTTAATAGGATGTGTTGAATGA AACCAGTTCCACTCACCTGTCCACCTTGGACTGGGTCAGGCATTTTGTTT GAGTCAAAGGCAAGCACATGAAAGCGGGCCAAGCTGAACACAAGGAAATC AGCTGCTGCTTCTTGGTGTGGAATGAAACTTTGTTTAGTGGAGTCTCTCC ATAATGAATCGTCATTATCATCATCATCTCAGACTTTTACTGAGCATTTA TTATACACCTGGAACTGTGCTAAGTGCTTTACAAACAATATTTTGTATAA TTCTCTAAACAAACTTACGGGGTAAGAACAAGTATCATCATTTTACAGGT GAAGATTCTGAGATTTATAATCCAAAATTTTTTTTTCTTTTAAGACAGGA TCTTGCTCTATCGCCCAGGCTGGAGTGCACTGGTGTGATCATGGCTCGCT GCAGCTGGGACCTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGA GTAGCTGGGACTACAGGCATGTGCCACCATACCAGACTAATTTTTTTTTT CTTGAGAGGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCACAA TCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAATGATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCCAGCT AATTTTTGAATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTG GTCCCAAACTCGTGACCTCAAGTGATCCACCTGCCTTGGCCTCCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02615.hp1 HG02723.hp2 others(1): Show HG01891.hp2 HG02615.hp1 HG02723.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0141 a0001c0001t0001g0154 a0001c0001t0002g0155 others(1): Show a0001c0001t0001g0141 a0001c0001t0001g0154 a0001c0001t0002g0155 a0002c0002t0002g0142	4	340	0.0118	-2394	c.-50 others(11): Show c.-5023_-2630del	PCOLCE2	ENSG00000163710.9	transcript	ENST00000295992.8	protein_coding		2443		chr3	TogoVar
PCSK5_chr9_75885673_76367975	76304530	CGCCCCTA others(2387): Show CGCCCCTATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCACAA CAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAAAG TAGGATTCTGAGAGTTTAATTACTGTATCCATGTGCCCCTATGTTAAGCA CTTGACACGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGCAG AATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTT AATTACTGTATCCATGTGCCCCTATGTTAAGCACTTGACACGTATTATCT CATTTAGTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCATT TTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACTGTATCCATGT GCCCCTATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCACAAC AATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAAAGT AGGATTCTGAGAGTTTAATTACTGTATCCATGTGCCCCTATGTTAAGCAC TTGACACGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGCAGA ATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTA ATTACTGTATCCATGTGCCCCTATGTTAAGCACTTGACACGTATTATCTC ATTTAGTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCATTT TAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACTGTATCCATGTG CCCCTATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCACAACA ATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAAAGTA GGATTCTGAGAGTTTAATTACTGTATCCATGTGCCCCTATGTTAAGCACT TGACACGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGCAGAA TTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAA TTACTGTATCCATGTGCCCCTATGTTAAGCACTTGACACGTATTATCTCA TTTAGTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCATTTT AGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACTGTATCCATGTGC CCCTATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCACAACAA TCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAG GATTCTGAGAGTTTAATTACTGTATCCATGTGCCCCTATGTTAAGCACTT GACACGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGCAGAAT TATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAAT TACTGTATCCATGTGCCCCTATGTTAAGCACTTGACACGTATTATCTCAT TTAGTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTA GAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACTGTATCCATGTGCC CCTATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCACAACAAT CCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGG ATTCTGAGAGTTTAATTACTGTAGCCATGTGCCCCTATGTTAAGCACTTG ACACGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGCAGAATT ATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATT ACTGTAGCCATGTGCCCCTATGTTAAGCACTTGACACGTATTATCTCATT TAGTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAG AGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACCGTATCCATGTGCCC CTATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCACAACAATC CTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGA TTCTGAGAGTTTAATTACTGTATCCATGTGCCCCTATGTTAAGCACTTGA CACGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGCAGAATTA TTTTCTCTAATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTA CTGTATCCATGTGCCCCTATGTTAAGCACTTGACACGTATTATCTCATTT AGTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGA GACAAGGAAAGTAGGATTCTGAGAGTTTAATTACTGTATCCATGT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00544.hp1 others(56): Show HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02559.hp1 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02738.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG04199.hp1 HG04228.hp2 NA18522.hp2 NA18983.hp1 NA18991.hp2 NA18993.hp1 NA19000.hp1 NA19000.hp2 NA19030.hp1 NA19043.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20805.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0020 a0025 a0029 a0030 a0031	a0001c0001 a0001c0004 a0001c0013 others(33): Show a0001c0001 a0001c0004 a0001c0013 a0001c0054 a0001c0063 a0001c0095 a0002c0017 a0002c0019 a0002c0053 a0003c0005 a0003c0010 a0003c0051 a0003c0057 a0004c0006 a0004c0026 a0005c0002 a0006c0012 a0006c0014 a0006c0036 a0007c0008 a0007c0072 a0008c0003 a0008c0060 a0009c0018 a0009c0021 a0009c0059 a0010c0007 a0011c0011 a0013c0020 a0013c0085 a0020c0030 a0020c0061 a0025c0079 a0029c0077 a0030c0031 a0031c0073	a0001c0001t0002 a0001c0001t0003 a0001c0001t0026 others(51): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0026 a0001c0001t0027 a0001c0001t0035 a0001c0001t0056 a0001c0001t0059 a0001c0004t0001 a0001c0004t0002 a0001c0004t0027 a0001c0013t0022 a0001c0054t0010 a0001c0063t0003 a0001c0095t0002 a0002c0017t0008 a0002c0019t0007 a0002c0053t0010 a0003c0005t0002 a0003c0005t0003 a0003c0005t0006 a0003c0005t0011 a0003c0010t0003 a0003c0010t0011 a0003c0010t0054 a0003c0051t0013 a0003c0057t0018 a0004c0006t0005 a0004c0006t0006 a0004c0026t0033 a0005c0002t0001 a0005c0002t0005 a0006c0012t0007 a0006c0012t0046 a0006c0014t0021 a0006c0036t0023 a0007c0008t0016 a0007c0072t0003 a0008c0003t0005 a0008c0060t0043 a0009c0018t0002 a0009c0018t0051 a0009c0021t0002 a0009c0021t0011 a0009c0059t0002 a0010c0007t0008 a0011c0011t0006 a0013c0020t0003 a0013c0085t0032 a0020c0030t0022 a0020c0061t0004 a0025c0079t0041 a0029c0077t0036 a0030c0031t0044 a0031c0073t0031	a0001c0001t0002g0077 a0001c0001t0002g0097 a0001c0001t0003g0158 others(56): Show a0001c0001t0002g0077 a0001c0001t0002g0097 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0026g0087 a0001c0001t0027g0018 a0001c0001t0035g0104 a0001c0001t0056g0027 a0001c0001t0059g0046 a0001c0004t0001g0021 a0001c0004t0002g0152 a0001c0004t0027g0032 a0001c0013t0022g0081 a0001c0054t0010g0095 a0001c0063t0003g0066 a0001c0095t0002g0102 a0002c0017t0008g0059 a0002c0019t0007g0011 a0002c0053t0010g0003 a0003c0005t0002g0100 a0003c0005t0003g0147 a0003c0005t0006g0031 a0003c0005t0011g0094 a0003c0010t0003g0022 a0003c0010t0011g0085 a0003c0010t0054g0083 a0003c0051t0013g0121 a0003c0057t0018g0056 a0004c0006t0005g0029 a0004c0006t0006g0041 a0004c0026t0033g0114 a0005c0002t0001g0078 a0005c0002t0001g0079 a0005c0002t0005g0017 a0006c0012t0007g0034 a0006c0012t0046g0156 a0006c0014t0021g0117 a0006c0036t0023g0004 a0007c0008t0016g0014 a0007c0072t0003g0161 a0008c0003t0005g0035 a0008c0060t0043g0166 a0009c0018t0002g0067 a0009c0018t0051g0088 a0009c0021t0002g0151 a0009c0021t0011g0091 a0009c0059t0002g0141 a0010c0007t0008g0005 a0010c0007t0008g0113 a0011c0011t0006g0019 a0013c0020t0003g0106 a0013c0020t0003g0155 a0013c0085t0032g0105 a0020c0030t0022g0133 a0020c0061t0004g0142 a0025c0079t0041g0073 a0029c0077t0036g0149 a0030c0031t0044g0135 a0031c0073t0031g0108	59	151	0.3907	-2394	c.360 others(19): Show c.3604+2569_3605-1466del	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	28/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
CUX1_chr7_101811007_102288958	102081266	TGCTCCCA others(2385): Show TGCTCCCAAGATAGTCAGTGACATCACCATTCACGCAGGTGCTTTGGCCA CTGATATGGTTTGGCTCTGTGTCCCCACCCAAATCTCACCTCAAATTGTA ATCTCCACATGTCGAGGGAGGTGATTGGATCATGGGGGCAGTTTCCCCGT GGCTGTTTTCATGATAGTGAGTGAGTTCTCACGAGATCCGATGGTTTTAT AAGTGTTTGGCAGTTCCACCTTCGCTCATCTCTCTCCTGCCACTTTGTGA AGAAGGTGCTTGCTTCTCCTTCACCTTCCGCCACAACTGTTTCCTGAGGC CTCCCCAGCCATGTGGAACTGTGATTCCATTAAACCCCTTTGCTTTATAA ATTACGCAGTCTCAGGTATTTCTTTTTTGTTTTTTTTGAGATGGAGTCTC ACCATCGCCCAAGCTGGAGTGCAGTGGCATAATCTTGGCTCGCTGCAACC TCCTCCTCCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCTGGGATTA CAGGCGCCTGCCACCATGCCCAATTAATTTTTGTATTTCTAGTAGAGACA GAGTTTCACCGTGTTGGCCAAGCTGATCTCGATCTCCTGACCTCGGGTGA TGCGTCCGCCTCCGCCTCCCAAAGTGTTGGGATTAGAGGCATGAGCCACC ATGCCTGGCCCAGGTATTTCTTTATAGCAGTGTGAAAATGGACTCATACA GCCATAATGCACAACTCAGCCTGGGTTCCCTTCTTTCTTTCACACCCAAT AGCCAGGCTGTCAGTAAGTCCTAGTGAGCCAGCAGCCTCCAGAATGTATC CCAGATTCGCCCACTTACCCTTCAGCCACTGTCACCTAGTCCAAGCCACC AGTCTCTGTCACCTCACTGCACTCACACCTCCACCTAACGTCCTTTGCAC AGCAGGCAGACGGGTCTACGTCAGTGGTCTCCAAACTACTTTTGCTTATG CACCCCAAGAGTAAAAAAGTTTGAATTGGGCCAGGCACGGTGGCTCACGC CTGTAATCCCACCACTTTGGGAGGCTGAGGGCAGGCGGATCACCTGAGGT CAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTA AAAATACAAAAATTAGCTGGTGTAATGGCAGGCGCCTGTAATCCCAGCTA CTCAGGAGGCTGACGCAGGAGAATTACTTGAACCCAGGAGGTACAGTGAG CCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTGTCT AAAAATAAATACATACATAAACACATACAATGAAATGCGCTCATTTCAAG TGTGCAGTGTGATAGCGTGGCCACCTTCACAGTCAAGATGTAGAACATTT CTATCACCTCAAAAGTTCCCTTCTGATCCCAGTACCCAGCAACTGCTGTT CTGCTCTTTGTCACTTCTGGAGTTGTATAGAAGTGGAATCATTTGGTCTG TGGTCCTACATCTGGCCTCTTTCACTCAGCGCGGTGTTTTGGGATTCATC TAAGTTACTGGTGTCATTAGTCCTTTCCTTTTTATTGATGAATGATATTC CACTGTGTGGATATATACCAATTTGTTTATCCAACAGTTATGTTGACAGA CATTTGGTTGGTTGTGGGTATTATGAATCAGTCTATAAACATTCATGGAG AAGTTGTTACATAGGTATATGTTTTTATTTCCCTTAGGCAAATACTTAGG ATGAGGGTCAGGGAACCTGTACATTTTACCTGATAAGAAATGCCAAGCTG CTTTTCAATGTAGATGTATCTTTTTTTATTAATTTTTTTCATTTTCTTTT CCTCAGGATAGCAAAGTTACAGTTGTATTATTTTATCCCCTCATAAGAAA TTGAGAGGAGTTCCAGTTGCTCCATGTCTTCTGTTTCATCGGTTATTTTC TAATTTTAGACATTCCTAGTGAATGCGTAATGTATTTCACAACGATTTTA GTTTGCATTTTCCTGATGATTAATGATGCAGAATATTTTTTCATGTGCAT TTTTGCTTTCATAGATTTTTATTTATAAAGGTTTCAATCCCTTGCACATT TGAATTTTGGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTG ATATAGTCATAGCTCACTACAGCCTCAGTCTTCCAGGCTCAAGCGATCCT CCCACCTCAGTCTCTCGAGTAGCTGGGACTACAGGCATGTGCCACCACAC CCGATTAATTTTTTGTTTTTTCTAGACATGAGGTCTAGCTGTGTTGCCCA GACTGGTCTCAAACTCCTGGGCTCAAGCAGTCCTCCCACCTTGGCCTCAC GAAGTGCTGGGATTATGGGCATGAGCCACCGTGCCTGGCTTCTGTATACG TTTTAGATTCAGCTTGTCAGTTTTTACAAAGGAGTTTTCTGTG	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp2 HG01099.hp2 others(2): Show HG00544.hp1 HG00639.hp2 HG01099.hp2 HG01192.hp1 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0002c0003t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0002 a0002c0005t0002	a0001c0001t0001g0098 a0001c0001t0001g0108 a0001c0002t0001g0038 others(2): Show a0001c0001t0001g0098 a0001c0001t0001g0108 a0001c0002t0001g0038 a0002c0003t0002g0010 a0002c0005t0002g0061	5	130	0.0385	-2392	c.301 others(19): Show c.301+10850_301+13241del	CUX1	ENSG00000257923.12	transcript	ENST00000622516.6	protein_coding	4/22			chr7	TogoVar
CUX1_chr7_101812626_102263233	102081266	TGCTCCCA others(2385): Show TGCTCCCAAGATAGTCAGTGACATCACCATTCACGCAGGTGCTTTGGCCA CTGATATGGTTTGGCTCTGTGTCCCCACCCAAATCTCACCTCAAATTGTA ATCTCCACATGTCGAGGGAGGTGATTGGATCATGGGGGCAGTTTCCCCGT GGCTGTTTTCATGATAGTGAGTGAGTTCTCACGAGATCCGATGGTTTTAT AAGTGTTTGGCAGTTCCACCTTCGCTCATCTCTCTCCTGCCACTTTGTGA AGAAGGTGCTTGCTTCTCCTTCACCTTCCGCCACAACTGTTTCCTGAGGC CTCCCCAGCCATGTGGAACTGTGATTCCATTAAACCCCTTTGCTTTATAA ATTACGCAGTCTCAGGTATTTCTTTTTTGTTTTTTTTGAGATGGAGTCTC ACCATCGCCCAAGCTGGAGTGCAGTGGCATAATCTTGGCTCGCTGCAACC TCCTCCTCCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCTGGGATTA CAGGCGCCTGCCACCATGCCCAATTAATTTTTGTATTTCTAGTAGAGACA GAGTTTCACCGTGTTGGCCAAGCTGATCTCGATCTCCTGACCTCGGGTGA TGCGTCCGCCTCCGCCTCCCAAAGTGTTGGGATTAGAGGCATGAGCCACC ATGCCTGGCCCAGGTATTTCTTTATAGCAGTGTGAAAATGGACTCATACA GCCATAATGCACAACTCAGCCTGGGTTCCCTTCTTTCTTTCACACCCAAT AGCCAGGCTGTCAGTAAGTCCTAGTGAGCCAGCAGCCTCCAGAATGTATC CCAGATTCGCCCACTTACCCTTCAGCCACTGTCACCTAGTCCAAGCCACC AGTCTCTGTCACCTCACTGCACTCACACCTCCACCTAACGTCCTTTGCAC AGCAGGCAGACGGGTCTACGTCAGTGGTCTCCAAACTACTTTTGCTTATG CACCCCAAGAGTAAAAAAGTTTGAATTGGGCCAGGCACGGTGGCTCACGC CTGTAATCCCACCACTTTGGGAGGCTGAGGGCAGGCGGATCACCTGAGGT CAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTA AAAATACAAAAATTAGCTGGTGTAATGGCAGGCGCCTGTAATCCCAGCTA CTCAGGAGGCTGACGCAGGAGAATTACTTGAACCCAGGAGGTACAGTGAG CCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTGTCT AAAAATAAATACATACATAAACACATACAATGAAATGCGCTCATTTCAAG TGTGCAGTGTGATAGCGTGGCCACCTTCACAGTCAAGATGTAGAACATTT CTATCACCTCAAAAGTTCCCTTCTGATCCCAGTACCCAGCAACTGCTGTT CTGCTCTTTGTCACTTCTGGAGTTGTATAGAAGTGGAATCATTTGGTCTG TGGTCCTACATCTGGCCTCTTTCACTCAGCGCGGTGTTTTGGGATTCATC TAAGTTACTGGTGTCATTAGTCCTTTCCTTTTTATTGATGAATGATATTC CACTGTGTGGATATATACCAATTTGTTTATCCAACAGTTATGTTGACAGA CATTTGGTTGGTTGTGGGTATTATGAATCAGTCTATAAACATTCATGGAG AAGTTGTTACATAGGTATATGTTTTTATTTCCCTTAGGCAAATACTTAGG ATGAGGGTCAGGGAACCTGTACATTTTACCTGATAAGAAATGCCAAGCTG CTTTTCAATGTAGATGTATCTTTTTTTATTAATTTTTTTCATTTTCTTTT CCTCAGGATAGCAAAGTTACAGTTGTATTATTTTATCCCCTCATAAGAAA TTGAGAGGAGTTCCAGTTGCTCCATGTCTTCTGTTTCATCGGTTATTTTC TAATTTTAGACATTCCTAGTGAATGCGTAATGTATTTCACAACGATTTTA GTTTGCATTTTCCTGATGATTAATGATGCAGAATATTTTTTCATGTGCAT TTTTGCTTTCATAGATTTTTATTTATAAAGGTTTCAATCCCTTGCACATT TGAATTTTGGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTG ATATAGTCATAGCTCACTACAGCCTCAGTCTTCCAGGCTCAAGCGATCCT CCCACCTCAGTCTCTCGAGTAGCTGGGACTACAGGCATGTGCCACCACAC CCGATTAATTTTTTGTTTTTTCTAGACATGAGGTCTAGCTGTGTTGCCCA GACTGGTCTCAAACTCCTGGGCTCAAGCAGTCCTCCCACCTTGGCCTCAC GAAGTGCTGGGATTATGGGCATGAGCCACCGTGCCTGGCTTCTGTATACG TTTTAGATTCAGCTTGTCAGTTTTTACAAAGGAGTTTTCTGTG	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp2 HG01099.hp2 others(2): Show HG00544.hp1 HG00639.hp2 HG01099.hp2 HG01192.hp2 HG03492.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0010 a0001c0001 a0001c0004 a0003c0010	a0001c0001t0022 a0001c0001t0056 a0001c0004t0007 others(2): Show a0001c0001t0022 a0001c0001t0056 a0001c0004t0007 a0001c0004t0055 a0003c0010t0038	a0001c0001t0022g0100 a0001c0001t0056g0117 a0001c0004t0007g0064 others(2): Show a0001c0001t0022g0100 a0001c0001t0056g0117 a0001c0004t0007g0064 a0001c0004t0055g0077 a0003c0010t0038g0016	5	134	0.0373	-2392	c.268 others(19): Show c.268+10850_268+13241del	CUX1	ENSG00000257923.12	transcript	ENST00000292535.12	protein_coding	4/23			chr7	TogoVar
DLGAP2_chr8_732628_1713476	1393212	TGAGTCGT others(2385): Show TGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAG TCGTGTATTGAGTGCTTACTGAGCGCTCCCTCATCGTCCTCCGGAGTCGT GTATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTAT TGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCTGAGTCGTGTATTGAG TGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGCATTGAGTGCT TACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACT GAGTGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGC GCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTC CCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTC CTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTG TCTTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCT CCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTG AGTCGTGTATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTC GTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGT ATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTG AGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTG CTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTA CTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGA GCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGC TCCCTCCTTGTCCTCTGGAGTCGTGTATTGAGTGCTTACTGAGCGCCCCC TCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCT CGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTC CTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCC AGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAAAG TCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGT GTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTAT TGAGAACTTACTGAGCGCTCCCTCCTTGTCCTCCGGAGTCGTGTATTGAG TGCTTACTGAGTGCCACCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCT TACTGAGCACTCCCTCCTTGTCCTCCGGAGTCGTATATTGAGTGCTTACT GAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGC GCTCCCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCA CCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTC CTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCACTCCTTGT CCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTC TGGAGTCGTGTATTGAGAGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGA GTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCGGAGTCG TGTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTA TTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGA GTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGC TTACTGAGCGCTCCCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTAC TGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAG CGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCC ACCTCCTCATCCTCCGGGGTCGTGTATTGAGTGCTTACTGAGCGCCACCT CCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCACCACCTCCTT GTCCTCTGGAGTCATGTATTGAGAACTTACTGAGCGCTCCCTCCTATGTC CTCCGGAGTCCTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCC AGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGGG TAGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCTCCA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01891.hp1 HG02647.hp2 others(3): Show HG01496.hp1 HG01891.hp1 HG02647.hp2 HG02698.hp2 HG03710.hp1 NA18906.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0002c0001 a0002c0004 others(1): Show a0001c0003 a0002c0001 a0002c0004 a0004c0008	a0001c0003t0024 a0002c0001t0002 a0002c0001t0003 others(3): Show a0001c0003t0024 a0002c0001t0002 a0002c0001t0003 a0002c0004t0003 a0002c0004t0018 a0004c0008t0016	a0001c0003t0024g0003 a0002c0001t0002g0013 a0002c0001t0003g0021 others(3): Show a0001c0003t0024g0003 a0002c0001t0002g0013 a0002c0001t0003g0021 a0002c0004t0003g0009 a0002c0004t0018g0010 a0004c0008t0016g0028	6	40	0.1500	-2392	c.107 others(21): Show c.107-108116_107-105725del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
FSTL5_chr4_161378897_162169000	161528123	CATCATAC others(2384): Show CATCATACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAAC TTTAGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTGCAGCACAC CAGCATGTCACATGTATACATATGTAACTAACCTGCACATTGTGCACATG TACCCTAAAACTTAAAGTATGATAATAATGAAATAAAATAAAAATAAATA AATTTCACATTTAACAACATTTCATGTTTAACATAAATATAAAATGCACA TATAGTTGGGATATAAAGCAAAAAAGGAGGAAGAACAATAATCAAACTGT CTGATTTACTCTATCTGACTTATTCAGACACAGTCAGCCTTTATCAGAAT TCTGGTATTTGGGTAAATAGAGGACAATAGGAAACACAGTTGTATAATCT GGGCTGTTGGCACAGAGTTAATAGAAATATATGGCATAAATTAGACTTCA CAAAACTTTGAGAAAACACCCCACTTCAGCCCCTTACCCCAGAGTTTGGG CATTTCAAAGATACATTTGTTTTGTTAACTCTTTGCACATTTATGCCATT ATCTGACCGAATTCCTGCAACAGAGAACACTAAGAGAATCATAAAGTGAT GATAATTCTACTTTTGTTAAACTTAAGAACACAGTTATTTGGTAAAGGAT TAACTATATTTGAAGCCTTTGGAATTAGAAAACCTCAAAGAGAGTCCTAA CATTTTCTCCTGAACACAAGAAATACAACGTTAGTATGTACATATTTTTA AGTTCAATAGAGACTGTATACTCAGCACTGTCACTATATGTTAAGTGTAT TCAGTCCACATGCCTAAAGTCATATAAATAAAATTTCATCATCATCATCA ACTTATCCTAAAATAAATTAGTCACATTGGCATTGTGTAATATGAATTAG GAGGTTCATTAAAGGTATATAATGCCTTGCAGAGAAAATTCAGGCAGTAG ATCAAAATAAGAAAGCATTATTTCTTATTTTGTTGTGTAGACAATAAAGA TGCCCAGTAGTTTACGGTTGCTGAAAACCTGTCAATTTTAGTGACATTCA GATCACATAGTATCTTGTTAGTTAATAAAGCCCTGCTTTTGTGCAAAAAG TGGCAACATGTTAGAAACAGATCTATTTAATGATATTGAAGGGTATTATT TTAAAAATATAGTCTTCATATAGAAGTCACAAGACAGGTATTTTCGGTAT GTTCTGGGTAAAAAGATGAAAAGACTTATAGAACAAGTTACCTCACAGGG TGTGAAATGACATTGGCCAAATTGAGAAGCATGAATATTGGAATTTATTA TAAATAATGAAAGTTTATAAAATAATAAATGCTTATCAAGCATGGTTAAC TTCGACATGACTCTTCATCTTAAGACATTTTATTTCATAATAACCTTATT GCTATATAAATCTTATATCAAATATTAAACAAGTAATTTGGGGCTTTTCA AAAAGAAATACAAATTGTTAATTTCTGCTTTAAGTTATAATTAGTATATA TTCTCTATAGAATTATATTTAATAAAATATATGAAAATTAATATTTTTAT TCATTGATTTATTTTTTCCATAAATATTTGTTTTTATTTGGTTCTATTTG ACTCTAGCTCTTAGCTCATCACTATCAGGATAAAATCCTACCCGGCTGTG ATGTCTGCACTTTATCTTTATGGATTTTTGCTGTATGTTATTATTCTATC TATCTCACAGTTATTGAGTGTAAAAACAAAACAAAACAATTATTAATCTG ATTACTGCTGCACCTAATATTGGTTGAGTCTAGAAATAATTACTAATCGA TGACTTTTGCATTTGGCTTCATTTATACCTCTTTTTAGACTATATTGTTC AACTGTTTATATTACCTTCCTAGCCTCTGTAGAGATTAATAAGATCCTAC ATAAGTGATCTCATTAAATCTATGCAACCTGCCTTTTGAAGTATTTCCTC ATTCTATAGAAATAGAAAGTAAATGAAGACTAAAGAGGTTAATTAATTTG TTTATGTTATCAGAATCTATTCTATTTCTAAAGTTTATGATAGTCATATT CATACGATCTTTATAGGTAAAAAGACCATGTTTTAATCTATTTTAGGACC CTTTCTTTTACTTCTAAAATAGGAAGATACCTCATAACTATTCATATGTT TTTCAATTTTTTTTCAAGATAGTTGGAAACAAATGGCTGGATTTTACAAT ATTGCTAAATCTTAGTATTAGCAATTATGCTTATTTCATTTTGATAATAA TTATTAACTTACATAAATAGTATATGTTTATATAATTTATTTACGCAAAT AATCTTGTAGACTTTAGCCATTTGAAATGTGTTTTTTAAAAAATCTTCAA GTTGTTTTATTTTATAATAAAGTATGAACTATCAAAATATTA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00621.hp2 others(28): Show HG00140.hp2 HG00438.hp2 HG00621.hp2 HG01069.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01952.hp2 HG02056.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02293.hp2 HG02451.hp2 HG03017.hp2 HG03130.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp2 NA18612.hp1 NA18612.hp2 NA18945.hp1 NA18948.hp2 NA18968.hp2 NA18983.hp1 NA18990.hp2 NA19002.hp2 NA19065.hp1 NA19079.hp1 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012 a0002c0004 a0003c0005 a0003c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0014 a0001c0002t0001 a0001c0002t0008 a0001c0002t0016 a0001c0003t0001 a0001c0003t0019 a0001c0012t0001 a0002c0004t0003 a0003c0005t0005 a0003c0005t0009 a0003c0014t0005	a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0036 others(28): Show a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0002g0012 a0001c0001t0003g0108 a0001c0001t0003g0119 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0007g0061 a0001c0001t0014g0101 a0001c0002t0001g0031 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0059 a0001c0002t0001g0062 a0001c0002t0001g0067 a0001c0002t0008g0103 a0001c0002t0008g0106 a0001c0002t0008g0120 a0001c0002t0016g0139 a0001c0003t0001g0100 a0001c0003t0019g0105 a0001c0012t0001g0070 a0002c0004t0003g0107 a0003c0005t0005g0077 a0003c0005t0009g0130 a0003c0014t0005g0064	31	140	0.2214	-2391	c.131 others(20): Show c.1312+7652_1312+10042del	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	10/15			chr4	TogoVar
ADCY3_chr2_24814169_24925237	24857026	AGGGCCAC others(2381): Show AGGGCCACATTTAATCTCAGTGTTGGCGGGGCCAGACTAACAAGCCACCA GGCCATGTCATCTGGAACAGTGCGGAAATCACACAGACCCAGGGTCAGCC CAGAGCTCTTACCCTGCCAGAGCAGGAGAGGGGACACCGAACATGTGGGA CTTCTGGTCACTGGCCTGGTCTCCTGTGCAGTCCCCAGAGACAGGGGCCA CCGTGTAGGCCAAGGTGACTGCAGTCTCAGGAGACAGCCCACTGGGCCCA AAGATGGCCACGTGTGTGGTACCTGGAGCCCTCACCACGAATTATTTGGC AAAGAGCAGGTACTACTCCTTAGAGGTTTGAAGAGTTAACGAGCTGTCAA CTAGGAGACCTGGCCCAAGGGGCAAGCCACCATCCTCTAGAACAGCGCTA ATAGAACTTCCTGCAATCACAGAAATGTTCTGTATCTTTGCTGTCCAATA TGGCAGCCACATTTAGCTACTGAGCACATGAAATGTGGCTAGTGCTACTG AAAGACTAACATTTTCTAATTAATTAAGTTTAATTTAAATAGCTACATAT GACAAGTGGCTACCATACTGCTACCTATTGCAGCTCTAGAACACTGTAGT CACAAGTACTGTGCCAACTCTGATGGGCAGAGAGCAGCTGCCTCGAGCCC TGTGTTGAGAAGGATGCGGAGGGTTCGTATCTGTGACTGGCGGAAAGCAG ACCCTTTGCATTCTCTCCTTGACCCAGATGCAGCAACTCAGTACCACCCT GGGCATAAAGGCCCAAGAAAATTATACCGACAAAATTTCCACCTTTACCC ACGGCACTCCCTAAGCTCCGTCCTCTGCTTTCTCTCCACAGCCCTTCCCA GCTCCTGACATAGCACATACTCGTCTGTTTAATGTGTGTTGCCCACACTA GAATCTGTTCTGCTCACAACTGTATCCCCAGTGCCTAGAAAAGTCCTGAA ATACTTGTGGTCTGAATTTTTTTTTTTTTTTTTTTTTTTTAAAGAGACAG GGTCCCGCTGTCTCCCAGGCTGGAGTGCTGAAGTGTAGTCACAGCTCACT GCACACTGATCTTGCTGGGCTCAGGTGATCCTCCCGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGTGCGCACCACCACCATGCCTGGATTTTTTTTAA GTTTTTTTGTAGAGATAAGGTCTTGCCATGTCTGGTGTTGGACTCCTGGG CTCAAGAGGGGCTCAGTGACCCAGTTAGAATGTGAATGCAAGTCTTACTT GCAACCTTTGTTGACAGATCTTTCCATTTTCTAAGTGAGTCAAAAATCCA GGTTTTTATCCAGAATGTACAAATGTTTAAGTATTAGAAAATGTTAACAC TCTGGGAAGGTCAAACAAAACAGATACCCACAGGCCAGCTGTGGTCCAAG GACTACCTAACTGATTCTTCCTGTTAATTAACAGATCTCCCAAATAGAGC CAGGAGGAAGTGCCAGCTGGTAAATGAGAGATCTCATTATTAAATGAAAT AATCCAATGAAAACACCATCCAGGGCCTGGCACAAAATAAATGTTCAATA AAACTACACTCATTACTAACAAAACTTCATTCTTACAGCCAGATAAATAT AAAATGCGCCACAACCCTGGCCACAATGCACAATTCTACAATTCTACAAC TCTACAGTTCTCCAGCAATTCTACAACTGTTTGGAGAAAAATTCTGCTGG AGGATGTGGCAAAGGCTTAAGACCTGCCACAGCCCAGCAGAGCCCAGCTC AGAGGCCACACAGCCCATGCATGGGCCGTCAGCAGGACTGTCCTCACCAG CTCTGCTCAGGTCCACCCTGACACAGCCAACATCCTCCCACTGCCACCAG GAACCCACCACTGCTTTAGGACAACCTGTTTTCTATGGGTTCATCATCTG CATTATCTGAAATGTGGATTTGTTTTGCTAAGTCCTGGAATGTTGAAATG AAGAGCATTCTGTGACATCCAAGAGGTGAGAGTTGGAACCAACAGAAGGA CCAGTGCCTACTTCGCATTATGGGGAACGCACCTGGCTTTTCTCACACTG AGAGGCATTCGAGGCTAAAAGAAAAACTAAAAATATTAGATATCTTTGTG GGTGGTTCTGTGAAGAAGATAGCGAGTACAATGCAAGGCTGATGCTGGGG GTGGGGACGTGTCTGTGTGTCTCCTGTGAAGCAGACAATGGATTTGACCC ATTACATTAGACGCGGAGAATGCCATGATGCAGCCACGGTGCAACGAGCA AGACGCAGAGCAGCTATGGATCCACAGGCAGAGGCACAGCCCTCCCACTC GACACCAGCTTCGTCTCCTCTTCCCACTCTTAGTGGTCCCCCTGCCCCGA CCTCACTGTTGCCAGGATAACAGTGGCATGGTGGGGCTT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0003 a0003	a0003c0036 a0003c0036	a0003c0036t0014 a0003c0036t0014	a0003c0036t0014g0005 a0003c0036t0014g0005	1	270	0.0037	-2388	c.825 others(19): Show c.825+13156_826-14643del	ADCY3	ENSG00000138031.15	transcript	ENST00000679454.1	protein_coding	3/21			chr2	TogoVar
LINGO2_chr9_27932617_29218601	28048858	AGTTTGTG others(2381): Show AGTTTGTGTTTGTGTTTATGCCAACATATATAGTTATGTTTATGCACATA GAACAAATTCTATCCCGAGTGTAACAAAGCAAATGCATGTATGTGAAATA TAAAAGGCAAAAAGTACTAATAGCAGTATTAGAATTATGATTAATTTTTA AATCATTTAAGCATTCTTTGAAGTTTTCTTTCCAGTATAAATTAAAATTA ACTTTGAATTCCTCTTCTGTAACAGAGTAATGTGTTTGCACATCACTAAG TGTATGCAATGCCTTCATGTCTTCATGCCTTTATCCTAGTCAGCAATGCA TCATGGGACAACATCAAGAGCTCTGTGGCCCATAGTCATCCCTTGTACTC ACCCAGCATGTGTTTACTGAGCCGATATTCTGGCTGTCTTTTGTATATAC AAGAATAACCCAATATATCTCAGCCCTGTTGGTCTAGTGGAGGTAGACAT GTCAATGATCATTAAGTTACAACATAGTACGTACAGTACTAGGGTTAGGC TATTTTAGAACCCCCAAGGTGGTATCAAATTCAACATAGCAGGTAATAAA ACATATTAGATCTTATTTCTACGGGATGGGTAGAGTTAGCGAGGCAAAAA GGATAAGTGGCTGGAGGAAAGACATTGCATATAGGGACTAGGCATGAAGG TAGGAAATAGCATGGTGAGTAAGAAATATGTTTGCAGTATGGAAGGGCAA GGGCTTCAGGTTCATGTTTAAGTCTAGATTTTACCGCTTATTAGCTTATT ATTCAAATCTTATCTAAAAATGCAAATAATTCCATTTATGTCACAAATTG ATATAAGGATGAAATGAGACCAAATGTGTAAAGGAGGCATTATAATGCCT GATGCGGCAGGTCTAACAGGTCTATTTCAAGGGCTTTGACATTACTGGAA CCAAGTACAAGGTGGGATGAGGTAGGAGGTAGGAGACAATCAGATCATGG AGAACTTCTTCATCAAGGCTAAAGCGGTTGGACTCCATTCCATAAGTCAC TGAAGCCTCTGAAGATTTTTAAATCAAGAGAGCAACATGATCAGGGTTGT TTTTCAGATGGATCACTAAAAACTGTCTTGAAGCTGGATTTGATGGGGCC AAGCCTGGCAGCAAGGTCAGTTTGTGGGCTGTTTTAATAGTTCTGGAGAC AGTGAAGGCTGAAGCAGGAATGGAAATGAGGAAATGGTTGGAGAAATATT CATCAGGTAAAAAGGTAGGGCTTTGTGATTAGATTGAGATGGAAGGAGAG AAGAGTGAGGGGTCAAGTATAACTAGCTCTCTAGTGTGGGTGGCTGAGTG AAGCAACTAAAATTCTGAATAAAAAGGAGGAACAAATTGAGGGAAGGCAA TGAGTTATTGGTACCATGTGCCTGGCAGTATACTCAGTTCTGAGGTTACA AAAATGAGTAAGACATACTTCCTGTCTGTAAGGAACTCACATGCTGGTAG GGAAGACAACCAAAGAAATAAAATACACTTTGGTTAAAGCCCCATATCTG GAGTCTTGACAGCAAAATATTTAATATCTAATCATAAGGAAATCAGATAA ATCCTAAGTAAGGGATATTCTGCAAGACAATCTAAAAACTCTTCAAAAGC TATTAATGTCATTCAAGAAAAACCACTGGGAAACAGTTCAATGTTAAAAT ACTACAAGAGTAACGGCAATCAAATGTAATGTGTGATCACTGATAGGGTT CTAATCCCCTCCATACTCCAGAATAACAGTTAAAAGAACACTACTATGCT AATTAGAAACAATTGCATATGAACCGAAATACCACCCTTCATAACACTGT TAAATGTCTTAGGTGTACCATTGCTTCGTGGTTATGTAGAAGAGCCCAGG CATTCCACTGTAAGTGCTAAACACCTAAAGAGTTGGGGTAGCATGCCATG ATGTCTACAACTTAAAATATTCATGTAATTCATACATGTTGATATAATGC ATTCACATAGAGGAATAACATGTGTAAGTGGGGCAAATGTTCAATTTGGT GATTTTATATAAGTTGAAAGAGTAATAAATACCATTAATCTACAGATGAG TTTTTTCAAAATATTGAAAACACACTGTAGTACATGTTATGACAGTGGTG GGCTCAACATACTCATCAGTAAGAAGTATAGATGAAATACAAGGATGGTT GAAACAAAGTTCTGTTTTTAGCTAACCTCTTTCTCAGTTCCAGCTTTTAG CTAACTCCTTTCTCCAAGGTCGTCTTCTCCTGCTTTCCTTTTCCTACACA GGATGCTATGTGAAAACCATTTCAGAAGAGTTCTGGCTGTGGTGGTTAGT TGAGGCACATTCCAATCACAGATGCAGTTGAGGTCATGACTACAACACCA TCAGCTAGTATAGTTTTCTCCAAAGTGAAGACTGAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG00642.hp1 others(4): Show HG00408.hp2 HG00597.hp2 HG00642.hp1 HG02809.hp2 HG02922.hp2 NA19060.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0001t0022 a0001c0001t0028	a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0002g0045 others(4): Show a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0002g0045 a0001c0001t0003g0048 a0001c0001t0016g0011 a0001c0001t0022g0030 a0001c0001t0028g0038	7	62	0.1129	-2388	c.-35 others(20): Show c.-35-100540_-35-98153del	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
RIPK1_chr6_3063494_3120187	3091725	GCCTACCT others(2380): Show GCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAG TAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGC AGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGC CTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTA ACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTG CCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAG CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAAC CGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCC GCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAG CGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTC GGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTAC CTGCCGCACCTCGGAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCG CAGCGCGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTACCTGCCGC ACCTCGGAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCG CCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGT AACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCT GCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCA GAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCAC CTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCC TACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAA CCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGC CGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGC GCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCT AGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTA CCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACC GCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCG CACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGC GCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAG TAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACC TGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGC AGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCA CCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGC CTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTA ACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTG CCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAG CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACTGCAGAGCGCCTACCTGCCGCACCTAGTAACTGCAGCGCGCCTAC CTGCCGCACCTAGTAACTGCAGCGCGCCTACCTGCCGCACCTAGTAACTG CAGCGCGCCTACCTCCTGCACCTAGTAACTGCAGAGTA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03471.hp1 HG02451.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0128 a0001c0001t0003g0049 a0001c0001t0003g0128	2	338	0.0059	-2387	c.915 others(17): Show c.915+2091_915+4477del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
AGTR1_chr3_148692903_148748003	148693063	GGAATGCT others(2378): Show GGAATGCTAACCCTCCTGGGTCACCATACTCAGGACTCAGGAACCATGTC TTCCTCAGGTTTGCATTCTGAGAAAGTTCTCCTGCAGAAACCTATGCTTA CTACATGCTTGATTATATTTAAGTAAATTTGCCATTTTTAATTTAATGAA AATTCAAAACATGTAAGTCATTTCAACATATGGTATGTTGCTAAATAAAA ACCTTTATTTTAAAAATAGGTTTTAATTATTAATAATTTATATTACTTTC CTGATCCACAATGTGGTCTAGCACAGAGGTGTTAGCCATTGCATGAAAGA TAGGAACTGAGCCCCTCTTCTCTCTTCAGAAACTTGGAAGCAAGAAACAA AAGTCAGACATTCATGTCTTTACTCATCTACACAAATTTCATATTTTACC TTTTTAAAATAGCTTTACTTATATATACTCTACATACTATACAGTTCACC CATTTAAAGAATTAAGTTTATCCTAAAGCTGCTTCCTTACGTATTTTAAA TTTGGCCTAAAAGTTTCTCAGCATGTAGTGAACTGTAACCTAACTGGATG CTGAAAAGACTGAAACCTACTCTTGTGCCAATCACAGAGTTTCAGCATAT CTAAGGTGGTCAGTTGTTCAAACTGTGTTCAAATAAGGCAAATGCCAAAT TATAACCAATTCTATTTCTGTACCTCATTTTTGTCTTCTTTACATCACTT TCCTTTTTCTGCCCATAAATCTTTTTCAACCACGAGGCAGTGCTGGAGTC TCTCTGAACCTATTGCAGTTCAGTGGCTGCCCGATTTGCACATCACTCTT TGCTCAATTAAGCACTGTTAAATTTAATTTGACTAGGTTTGTCTTTTAAC AAAGATGTACAGTTCAATGTTTTTTGTATGTTTTCAAACATACAAAAGTT GTGTAATGATCACCATAATCAAATGTACAATTTTTTATCATCGTCCAATT AGCAGACACTACCATTCCCTCCTACCCCTCCACTCTCAGCCTAGGCAATC AAAATTCTCTACAGTTATGTCACTCCTGAATATTTCATATAAATGAAATC ATATAATATGTCTTCTTCTGTGACTGGCTTCTTTCAATTAGCACAAGGTT TTCAAGGCACTTCCATGTGTAACATGTACTTTATTCCCTTTTATTGCCAA ACAATATCCTATGGTATGGAGATATCACATTTTATCTATTCATCAGTTGA TAGATATTTGACTTATTTCTGCTTTGGGGCTATTATGAATAATGCTGCTA TGAATTTTCACGTCTACATTTTTGTGTGGACATATGTTTTCATTTCTAAT GAGTATATACCTAGGAATGGAATTGCTGAGCCATATGGTAACTCTATCTA TGCTTAGCATTTTGAAGAATTGCCACTGTTTTCCAAAATGGCTGCACTAT TTTATATTCCCACCAACAATATATGAGGGATCCAATTTCTCCACATTCTG GACAACACTTGTTACTATCTGACTTTTTGATTATAGCTATCCTAGTAGGC CTAAAATCATAACTAATTGTTCCTTTGAGTTGCATTTTCCTGCTGGCTAA TAATGTTGAGTTTTTTTATGTGTTTGTCTACCTTCTTTAGAGAAATGTAT ATTAAGATCCTTTGACCATTTTTAATGGTGTTTTTATTATCTTTGTGTGT GCTTTATTATCTTTATATGTTCTATACACAAGTCCTTATCAGGTATATAA TTTGCAAATATCTTTGCACATTCTTGGCTTTTTCTTTTCACTTTCTTGAT ACCCTTGGAAGTATAGATGCTGTTAATATTGATGAAATCAAATTAATTTA CCTACTTTTTCTTGTATTTCTTATGCTTTTGGAGTTGTATCTAAGATGGC TTTGCATAACCCAAGGTAACAAAGGTTTACTCCTACGTTTTCTATTTAGT TTTATAATTTTTCTCTTAAGCTTGGGTCTATGATCCATTTTGACTTAATT TTTACATGTGGTATTATAAGGAGTCCAACTTCATTCTTCTGCATGCAGAT ATCCAATTATTCCAGTACCATTTGTAATAAAGATTACTCATTCTGCATTT TTTCAACCCTTTTCAAAATCTAGTGGCTCATAAATGTAAGGGTTTAGTTT GTGGACACAATTCTGTTCCATTGATCTTTCTATCTATTGCTATGCCAGTA CCACATTGTCTTGTTTATTGTAATTTTGCAGTAAATTTTGAAATTGGTAA GTTTGTTCTTTTTCAGAATTGTCTTGACTATTCTGGGCCCCTCGCACTGC TACATGTTTTTAGGATAACTCCATTCATTTCTGCAATAAAAGCTTGCTGG GTTTTGATAGAGATTTTGTTTAACCTGTAGATCATTTGAAGATTAATGCC ATTGTAACGATATTAAATCTTTCAATCCAAGAACAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0235 a0001c0001t0002g0235	1	348	0.0029	-2385	c.-51 others(11): Show c.-5195_-2811del	AGTR1	ENSG00000144891.19	transcript	ENST00000349243.8	protein_coding		4839		chr3	TogoVar
ASMT_chrX_1610059_1648081	1637011	AGTGTCCC others(2378): Show AGTGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGA TGTGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCT GTGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTG TGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGA TGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTG TCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGG GCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC CATCCCTCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGAT GGGGACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGCACAT GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT CTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGC CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG GACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGA GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC CTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTC TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCAT CCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGA CCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGG ATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCT GTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTG TGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCC TGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC ATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGAT GTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGT GAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTG TGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTG ATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGT GTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTG GGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGA GGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTG TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGAT GCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCC CAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACA CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC ATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCC ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG TGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAG CCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAT CCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATG GGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATG AGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC TCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCC TCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCA TCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGG ACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAG GATGTGGGCACAGCCTCTGTGTGTGAGATAAGGACT	A A	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0150 a0002c0002t0001g0150	1	218	0.0046	-2385	c.910 others(16): Show c.910+478_910+2862del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1637061	TGTGGGCA others(2378): Show TGTGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCT GTGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTG TGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGA TGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTG TCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGG GCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC CATCCCTCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGAT GGGGACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGCACAT GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT CTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGC CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG GACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGA GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC CTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTC TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCAT CCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGA CCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGG ATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCT GTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTG TGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCC TGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC ATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGAT GTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGT GAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTG TGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTG ATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGT GTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTG GGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGA GGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTG TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGAT GCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCC CAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACA CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC ATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCC ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG TGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAG CCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAT CCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATG GGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATG AGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC TCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCC TCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCA TCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGG ACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAG GATGTGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTC CTGTGAGGTCCACCCATCCTGATGCTTCACGAGGAC	T T	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	221	0.0045	-2385	c.910 others(16): Show c.910+521_910+2905del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
CLCN5_chrX_49917596_50104230	49966577	TATATCTC others(2378): Show TATATCTCTGATCTTTTTTTTTTTTTTTTTTTTTTATTTTTTTATTTTTT TTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTT ACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCA TCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACC CCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATC TCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTT TGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGT CCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCA TGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACAT TTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACAT ACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATA TACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCC CTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTC CCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACC TGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGA TATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGA GCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGT GTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTC TTGTAAATTTGTTTGAGTTCAAGGCTGGTTCAATATACGCAAATCAATAA ATGTAATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATC TCAATAGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCT AAAAACTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAA GAGCTATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAA CTGGAAGCATTCCCTTTGAAAACTGGCACAAGACAGGGATGCCCTCTCTC ACCGCTCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGC AGGAGAAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTG TCCCTGTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATTGTCTC AGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGAT ACAAAATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGA CAAACAGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAA GAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCT TCAAGGAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGACACAAAC AAATGGAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAA AATGGCCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCA AGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTC ATATGGAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAA GAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGG CTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGAT CAATGGAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTA TCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCC TATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTG AAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGAT TAAAGATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACC TAGGCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAA ACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAAT TAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACA GGCAACCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAA GGGCTAATATCCAGAATCTACAATGAACTCAAACAA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp2 HG01070.hp2 others(42): Show HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01081.hp2 HG01167.hp1 HG01255.hp1 HG01884.hp1 HG02145.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG06807.hp2 NA18522.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0002c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0022 a0001c0002t0002 a0001c0002t0004 a0001c0002t0009 a0001c0002t0019 a0001c0003t0003 a0001c0006t0002 a0001c0007t0001 a0001c0008t0003 a0002c0005t0017	a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(42): Show a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0168 a0001c0001t0004g0137 a0001c0001t0004g0164 a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0010g0019 a0001c0001t0010g0020 a0001c0001t0022g0136 a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0130 a0001c0002t0004g0002 a0001c0002t0004g0003 a0001c0002t0004g0016 a0001c0002t0009g0013 a0001c0002t0009g0017 a0001c0002t0019g0010 a0001c0003t0003g0018 a0001c0003t0003g0162 a0001c0003t0003g0163 a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0167 a0001c0003t0003g0169 a0001c0003t0003g0175 a0001c0006t0002g0138 a0001c0007t0001g0029 a0001c0008t0003g0005 a0002c0005t0017g0001	45	173	0.2601	-2385	c.16+ others(17): Show c.16+41279_16+43663del	CLCN5	ENSG00000171365.17	transcript	ENST00000376091.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
DAZ4_chrY_24828919_24912040	24881957	CTCCCTGA others(2378): Show CTCCCTGACCGCTTGCGCGTCCCAAGTGAGGCAATGCCTCGCCCTGCTTC CGCTCGCACGCGGTGAGCCCACCCACTGACCTGCGCCCACTGTCTGGCAC TCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCC GTCTTCGGCGTCGCTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATT CGGCCATCTTGGCTCCTCCCCCACCCCCCTTTTTTTTTCAAGATGCCACC ATAGGGGCCTGTTGGGGAGCAAAGGGATTATGTTTTCCTTGATGTTAAGT GAATTAGCCAAACATAGACTTCCTGTTCATTCTTGGTTTTTTTCCACGTC GTATATGCCTATTACTATTTTTAAGTGATTTTTATATCAATGTTTTAGTT TACTTTTTTACTTTCTTGTTAACCCGATTATAAACTCCCATGGGAGCAAC AGTGCCTTTTTTGCCCTGAGGTTTTTATTTGCTTAAGCAATGGCAGGTCC ACTTAATGATAGACCATATCATCAAAGAAAGGTAGTATTCATGTGGCTTT TGAATTAGCATGCATCTGCGTAGATTCTGCCTCTGGCTTTACCAGCAACA GAAAATTTGTAGAACAGAGACAGAAATGCTTTGCTGTTAATTGCGCTTAA ATAAGAATAGGAGTAAACGAGAGTATTACCTCCAAAGCACCAGAGCTGCT TTCCTCCTTATAACCAGTTCCTAAAGTGAATGAAAGCAGCTCTCCTTATG TGTCTGCCTACTTCATTCTTCGGTAAGTTTAACAGTTCATCTAGCTACCC TTTATTTGAAATGATTTCCAGATGCCTCCTCATATAAATTGCTGACTTCT GGATATATTCTGGTTCGGGAATGGGTAGATTTCTGATGTGGTTTAGTAGG TATATAAATCCCGTGAGCTTCTTGCATCTAATTTCTCTGATCCTGCTTAC ACTGATATTTAAAGTAGGTTTTGACATACTCCATCACTTAATGTTGATAA AGGATGTTTATATTCTTCTTAGTTCGTTTTATTTATGTGTTAGCTTTAAA GACATTTTCTTTGACGGAAAGTGAAGTAACAAAATAATAGTCGAATAGTT CTGCCGTGTCTCTAATTTGTTGATATTTTCCATGTACTTGAAACATGTAT GGTACACCTCTTCTTTTTCCTTCTCTGAACAATGGCTAGAAAAAAAACCC TACTTCTTTCTGTCATTTACTGTGAGGCATTACTGAATCTGGGTGTATTC ATGTATGCTGCTACCTGTATGTTTTCAAACAATAAGAATTTATTGAAACA TATAAGACATTATACTTTCTCTTCTCCAGTATTGGATTATAGACTGCACT TAGTTTTCCGGAATGAAGTACAGACAAAGCCATAACGCATGTACAACTAC ACATTGTCCTATAATATTGTCTGATAAAAAACAGTGTAGAAATATTCTGA CAGGGAAATAGCAAATGTATTAATTTAACTTACCTTGCAATCTCTGTTAA TGGAGCCTTATCACCAGTGTAAGAAATAACGTCTGGGTGTGAATACGTAC ACAGTATAAGGTAAACTTTGGTGAAGTCGTCAATTCTTTTGTCATTTCTT CCCCCTTCACAGCCAAAGTGTAGCACTTGACATGGAATCTTTCTTTCTTC ATAAATCAGTCATTCATTTGGAATTCTGCATTGTTGTATGTAGAAAAACG ATATTTTCCCTTCTGTAATATTGTTGTTATATTGGGAATTATATTTCTTT GTAATTTTAAAAAGTGGTTTACCATATTCATTTTTTTCTGCCAACCTTTC TTTTCAGGCATTTCCTGCTTATCCAAGTTCACCATTTCAGGTCACCACTG GATATCAGTTGCCTGTATATAATTATCAGGTAATGTAAGAAGGAGTAAAA TTATTTGCTTTCAGGTATTATTGAGGCCTTTAACTTGTTTATACAAATTT CCGGAATAGTTGGTCATTTTAAACTAGTGAAGTGTACCTAAAATTTAAGG AAACACTTAGAATTAGTGTAGAATGAAGACCTCTGTCTTATTGAGAAGTA ATGAAGTCGAATTTTGACAGGAATATACTTGGGAATAACTTTCCTGTAGA ACAGATTTCTGAGATTTGGTGTCCCATTCTTCATTTCTGGATGTAGTTTT CATCTTTACTGTCAAATAACTGAATGAAACATCCAAACTGACTTTCATGA ATTTTCTTAGGGAGATAGAGTGAAATAAAATTATGACCCACTTTGCAGAG CACAGAATTCCAACTATATTTTCATTTTAGCTGGCTGTTTCACGATAGCA ATTCTCTGGGTCTCTTTTCACAGATACAAGTATAACTATGCCCAATAATT ATATCTATGGTAATAAACTGAAAGAGCTAGTATCTT	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00140.hp1 HG00140.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0003 a0004c0005t0001g0003	1	40	0.0250	-2385	c.164 others(18): Show c.1642-1805_1713+508del	DAZ4	ENSG00000205916.12	transcript	ENST00000682740.1	protein_coding	21/29		INFO_REALIGN_3_PRIME	chrY	TogoVar
DAZ4_chrY_24828919_24912040	24882359	CTTTTTTA others(2378): Show CTTTTTTACTTTCTTGTTAACCCGATTATAAACTCCCATGGGAGCAACAG TGCCTTTTTTGCCCTGAGGTTTTTATTTGCTTAAGCAATGGCAGGTCCAC TTAATGATAGACCATATCATCAAAGAAAGGTAGTATTCATGTGGCTTTTG AATTAGCATGCATCTGCGTAGATTCTGCCTCTGGCTTTACCAGCAACAGA AAATTTGTAGAACAGAGACAGAAATGCTTTGCTGTTAATTGCGCTTAAAT AAGAATAGGAGTAAACGAGAGTATTACCTCCAAAGCACCAGAGCTGCTTT CCTCCTTATAACCAGTTCCTAAAGTGAATGAAAGCAGCTCTCCTTATGTG TCTGCCTACTTCATTCTTCGGTAAGTTTAACAGTTCATCTAGCTACCCTT TATTTGAAATGATTTCCAGATGCCTCCTCATATAAATTGCTGACTTCTGG ATATATTCTGGTTCGGGAATGGGTAGATTTCTGATGTGGTTTAGTAGGTA TATAAATCCCGTGAGCTTCTTGCATCTAATTTCTCTGATCCTGCTTACAC TGATATTTAAAGTAGGTTTTGACATACTCCATCACTTAATGTTGATAAAG GATGTTTATATTCTTCTTAGTTCGTTTTATTTATGTGTTAGCTTTAAAGA CATTTTCTTTGACGGAAAGTGAAGTAACAAAATAATAGTCGAATAGTTCT GCCGTGTCTCTAATTTGTTGATATTTTCCATGTACTTGAAACATGTATGG TACACCTCTTCTTTTTCCTTCTCTGAACAATGGCTAGAAAAAAAACCCTA CTTCTTTCTGTCATTTACTGTGAGGCATTACTGAATCTGGGTGTATTCAT GTATGCTGCTACCTGTATGTTTTCAAACAATAAGAATTTATTGAAACATA TAAGACATTATACTTTCTCTTCTCCAGTATTGGATTATAGACTGCACTTA GTTTTCCGGAATGAAGTACAGACAAAGCCATAACGCATGTACAACTACAC ATTGTCCTATAATATTGTCTGATAAAAAACAGTGTAGAAATATTCTGACA GGGAAATAGCAAATGTATTAATTTAACTTACCTTGCAATCTCTGTTAATG GAGCCTTATCACCAGTGTAAGAAATAACGTCTGGGTGTGAATACGTACAC AGTATAAGGTAAACTTTGGTGAAGTCGTCAATTCTTTTGTCATTTCTTCC CCCTTCACAGCCAAAGTGTAGCACTTGACATGGAATCTTTCTTTCTTCAT AAATCAGTCATTCATTTGGAATTCTGCATTGTTGTATGTAGAAAAACGAT ATTTTCCCTTCTGTAATATTGTTGTTATATTGGGAATTATATTTCTTTGT AATTTTAAAAAGTGGTTTACCATATTCATTTTTTTCTGCCAACCTTTCTT TTCAGGCATTTCCTGCTTATCCAAGTTCACCATTTCAGGTCACCACTGGA TATCAGTTGCCTGTATATAATTATCAGGTAATGTAAGAAGGAGTAAAATT ATTTGCTTTCAGGTATTATTGAGGCCTTTAACTTGTTTATACAAATTTCC GGAATAGTTGGTCATTTTAAACTAGTGAAGTGTACCTAAAATTTAAGGAA ACACTTAGAATTAGTGTAGAATGAAGACCTCTGTCTTATTGAGAAGTAAT GAAGTCGAATTTTGACAGGAATATACTTGGGAATAACTTTCCTGTAGAAC AGATTTCTGAGATTTGGTGTCCCATTCTTCATTTCTGGATGTAGTTTTCA TCTTTACTGTCAAATAACTGAATGAAACATCCAAACTGACTTTCATGAAT TTTCTTAGGGAGATAGAGTGAAATAAAATTATGACCCACTTTGCAGAGCA CAGAATTCCAACTATATTTTCATTTTAGCTGGCTGTTTCACGATAGCAAT TCTCTGGGTCTCTTTTCACAGATACAAGTATAACTATGCCCAATAATTAT ATCTATGGTAATAAACTGAAAGAGCTAGTATCTTTGAGGTTTCCACATTG CCAACTCCCGAAAATGTGGAGAAGGGTGAAGTTTCTAATATAAAAGTAAG AAGAATGTCATGGAGTAGAAACATAAAGTACTCAAGTTTTCCTTTCTGTT ACTTGTATTATAATAAAAAAGGAGACAGCAGGATAAGTGCTTCAATATTG TGTTTCTCATGTGTTTTTGAAAATGTGTAGGAATATTTTAATAGTTTTGG TTTCCTTTCTTTTTTTTTTTTTAAGATGCCACCATAGGGGCCTGTTGGGG AGCAAAGGGATTATGTTTTCCTTGATGTTAAGTGAATTAGCCAAACATAG ACTTCCTGTTCATTCTTGGTTTTTTTCCACGTCGTATATGCCTATTACTA TTTTTAAGTGATTTTTATATCAATGTTTTAGTTTAT	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00738.hp1 HG01192.hp1 HG01243.hp1 others(6): Show HG00738.hp1 HG01192.hp1 HG01243.hp1 HG01261.hp1 HG01515.hp1 HG01943.hp1 HG02074.hp1 HG03688.hp1 HG04199.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0018 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0039 a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0001g0013 a0003c0003t0001g0014 a0003c0003t0001g0015	9	32	0.2813	-2385	c.164 others(17): Show c.1642-803_1714-804del	DAZ4	ENSG00000205916.12	transcript	ENST00000682740.1	protein_coding	21/29		INFO_REALIGN_3_PRIME	chrY	TogoVar
DAZ4_chrY_24828919_24912040	24885346	CGTTTATA others(2378): Show CGTTTATATTCTTCTTAGTTCGTTTTATTTATGTGTTAGCTTTAAAGACA TTTTCTTTGACGGAAAGTGAAGTAACAAAATAATAGTCGAATAGTTCTGC CGTGTCTCTAATTTGTTGATATTTTCCATGTACTTGAAACATGTATGGTA CACCTCTTCTTTTTCCTTCTCTGAACAATGGCTAGAAAAAAAACCCTACT TCTTTCTGTCATTTACTGTGAGGCATTACTGAATCTGGGTGTATTCATGT ATGCTGCTACCTGTATGTTTTCAAACAATAAGAATTCATTGAAACATATA AGACATTATACTTTCTCTTCTCCAGTATTGGATTATAGACTGCACTTAGT TTTCCGGAATGAAGTACAGACAAAGCCATAACGCGTGTACAACTACACAT TGTCCTATAATATTGTCTGATAAAAAACAGTGTAGAAATATTCTGACAGG GAAATAGCAAATGTATTAATTTAACTTACCTTGCAATCTCTGTTAATGGA GCCTTATCACCAGTGTAAGAAATAACGTCTGGGTGTGAATACGTACACAG TATAAGGTAAACTTTGGTGAAGTCGTCAATTCTTTTGTCATTTCTTCCCC CTTCACAGCCAAAGTGTAGCACTTGACATGGAATCTTTCTTTCTTCATAA ATCAGTCATTCATTTGGAATTCTGCATTGTTGTATGTAGAAAAACGATAT TTTCCCTTCTGTAATATTGTTGTTATATTGGGAATTATATTTCTTTGTAA TTTTAAAAAGTGGTTTACCATATTCATTTTTTTCTGCCAACCTTTCTTTT CAGGCATTTCCTGCTTATCCAAGTTCACCATTTCAGGTCACCACTGGATA TCAGTTGCCTGTATATAATTATCAGGTAATGTAAGAAGGAGTAAAATTAT TTGCTTTCAGGTATTATTGAGGCCTTTAACTTGTTTATACAAATTTCCGG AATAGTTGGTCATTTTAAACTAGTGAAGTGTACCTAAAATTTAAGGAAAC ACTTAGAATTAGTGTAGAATGAAGACCTCTGTCTTATTGAGAAGTAATGA AGTCGAATTTTGACAGGAATATACTTGGGAATAACTTTCCTGTAGAACAG ATTTCTGAGATTTGGTGTCCCATTCTTCATTTCTGGATGTAGTTTTCATC TTTACTGTCAAATAACTGAATGAAACATCCAAACTGACTTTCATGAATTT TCTTAGGGAGATAGAGTGAAATAAAATTATGACCCACTTTTCAGAGCACA GAATTCCAACTATATTTTCATTTTAGCTGGCTGTTTCACGATAGCAATTC TCTGGGTCTCTTTTCACAGATACAAGTACATCTATGCCCAATAATTATAT CTATGGTAATAAACTGAAAGAGCTAGTATCTTTGAGGTTTCCACATTGCC AACTCCCGAAAATGTGGAGAAGGGTGAAGTTTCTAATATAAAAGTAAGAA GAATGTCATGGAGTAGAAACATAAAGTACTCAAGTTTTCCTTTCTGTTAC TTGTATTATAATAAAAAAGGAGACAGCAGGATAAGTGCTTCAATATTGTG TTTCTCATGTGTTTTTGAAAATGTGTAGGAATATTTTAATAGTTTTGGTT TCCTTTTTTTTTTTTTTTTTAAGATGCCACCATAGGGGCCTGTTGGGGAG CAAAGGGATTATGTTTTCCTTGATGTTAAGTGAATTAGCCAAACATAGAC TTCCTGTTCATTCTTGGTTTTTTTCCACGTCGTATATGCCTATTACTATT TTTAAGTGATTTTTATATCAATGTTTTAGTTTATTTTTTTACTTTCTTGT TAACCCGATTATAAACTCCCATGGGAGCAACAGTGCCTTTTTTGCCCTGA GGTTTTTATTTGCTTAAGCAATGGCAGGTCCACTTAATGATAGACCATAT CATCAAAGAAAGGTAGTATTCATGTGGCTTTTGAATTAGCATGCATCTGC GTAGATTCTGCCTCTGGCTTTACCAGCAACAGAAAATTTGTAGAACAGAG ACAGAAATGCTTTGCTGTTAATTGCGCTTAAATAAGAATAGGAGTAAACG AGAGTATTACCTCCAAAGCACCAGAGCTGCTTTCCTCCTTATAACCAGTT CCTAAAGTGAATGAAAGCAGCTCTCCTTATGTGTCTGCCTACTTCATTCT TCGGTAAGTTTAACAGTTCATCTAGCTACCCTTTATTTGAAATGATTTCC AGATGCCTCCTCATATAAATTGCTGACTTCTGGATATATTCTGGTTCGGG AATGGGTAGATTTCTGATGTGGTTTAGTAGGTATATAAATCCCGTGAGCT TCTTGCATCTAATTTCTCTGATCCTGCTTACACTGATATTTAAAGTAGGT TTTGACATACTCCATCACTTAATGTTGATAAAGGAT	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02735.hp1 NA20805.hp1 HG02735.hp1 NA20805.hp1	a0004 a0008 a0004 a0008	a0004c0005 a0008c0007 a0004c0005 a0008c0007	a0004c0005t0001 a0008c0007t0001 a0004c0005t0001 a0008c0007t0001	a0004c0005t0001g0006 a0008c0007t0001g0005 a0004c0005t0001g0006 a0008c0007t0001g0005	2	25	0.0800	-2385	c.171 others(17): Show c.1714-312_1786-313del	DAZ4	ENSG00000205916.12	transcript	ENST00000682740.1	protein_coding	22/29		INFO_REALIGN_3_PRIME	chrY	TogoVar

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