Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DLGAP2_chr8_732628_1713476	1401498	CTCCCTCC others(1804): Show CTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGAGCTTACTGAGCACTCC CTCCTTGTCCTCCAAAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCC TTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGT CCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTC CAGAGTCGTGCATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGA GTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCTCCAGAGTCG TGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTA TTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGA GTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGC TTACTGAGTGCCACCTCCTCATCCTCCGGAGTCGTGTATTGAGTGCTTAC TGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAG CGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCC CCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCT CCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTC ATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTTC TCCTGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCG GAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGT CGTGTATTGCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTC GTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCC TCCAGAGTCGTGTATTGAGAGCTTACTGAGCGCTCCCTCCTTGTCCTCCA GAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCGGAGT CGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTG TATTGAGAACTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATT GAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGT GCTTACTGAGCGCTCCCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTT ACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTG AGTGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCG CTCCCTCCTTGTCCTCTGGAGTCGTGTATTGAGTGCTTACTGAGCGCCCC CTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCC TCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGT CCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTC CAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGA GTCGTGAAGAGAGTGTAAAATCGCTGATCACTCCAGGTGGTGAAGGGTGG ATGTGAAGTAAGGAGATTAAGGCGACTTACTCGTCGTCCTGCGTAGTGAA GAGATTGTAAAAAGAGGGCTACATCCAAGTCCTCATGCGTGGAGGATGAA TTGAGAAGATCCCCCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGC TTACTGAGCGCT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0011	1	39	0.0256	-1811	c.107 others(19): Show c.107-99867_107-98057del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14						chr8	TogoVar
MLPH_chr2_237482251_237560322	237542873	GGGACAGT others(1804): Show GGGACAGTGGTGAGTGGGCACAGTAGTGAGTGGGGGGACAGTGGTGAGTG GGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTG GGGGGACAGTGGTGAGTGGGGGCACAGTGGTGAGTGGAGACAGTGGTGAG TTGGGGGACAGTAGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTG AGTGGGGAGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGTACAGTGG TGAGTGGGCACAGTAGTGAGTAGGGGGACAGTGGTGAATGGGGGACAGTG GTGAGTGGGGGACAGTGGTGAGTGGGGGCACAGTGGTGAGTTGGGGGACA GTGGTGAGTGGGCACAGTAGTGAGTAGGGGGACAGTGGTGAATGGGGGAC AGTGGTGAATGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGC ACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGG GGACAGTGGTGAGTGGGGGAACAGTGGTGAGTGGGGGACAGTAGTGAGTG GGGGACAGTGGTGAGTGGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGT GGGGGCACGGTAGTGACTGGGGCGACAGTGGTGAGTGGGGGGACAGTGGT GAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGT GAGTGGGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAGTGGGGGACAGT AGTGAGTGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGCACGG TAGTGACTGGGGCGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGA CAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGG ACAGTGGTGAGTGGGAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGG GGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGG GAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAGT GGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAG TGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGA GTGGGAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGT GAGTGGGCACGGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTGGT GAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGT GGTGAGTGGGGGGACAGTGTGTGGGGGGACAGTGGTGAGTTGGGGGGACA GTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTAATGAGTCGGGGGACA GTGGTGAGTGGGCACAGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACA GTGGTGAGTGGGGGGACAGTGGTGAATGGGGACAGTAGTGAGTGGGGGAC CGTGGTGAGTGGGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTCGGGGG ACAGTGGTGAATGGGCACGGTAGTGAGTGGGGGGACAGTAGTGAGTGGGG ACAGTGGTGAGTGGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTG GGGGGGGACAGTTGTTGAGTTGGGGGACACTTTAGTGTTGGGGGGGACAT TGTTTATTGGGGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGTGGTC AGTGGTGATTGGGCACTGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGG ACAGTGGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	282	0.0035	-1811	c.153 others(18): Show c.1539+217_1540-1920del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
RTL4_chrX_112078016_112462514	112376740	TACTCGGT others(1804): Show TACTCGGTATATGGCCACTGAACTGGTGAATATATTCATTTCCATTCCTA TCAAGGAGGATTAGAAGCAGTTTGCATTCGGTTGAACACAGAGCATCTAC ATTTATTTTCTTGCCACAAGCATTGTTAGGTAATCTATTCTGTTTAATGT AGTTCTAAGAATTCTAAATTTTCTGAATGTTTTGCAGAGCATTATATTGG TGCACTATATCAATGATGTCATGTTAATCAGACAAGATGGTAAATAAGTG GCAAGTATTTTGAAGGCATTAGAAAGAAATGTTAGTACCAGGAAGTGGGA GATAAACTCTATAAACATTAAGCTCATGACACTATTAATTTTTTTAGAGT CCAGTGATCTGCAGTATGGTAAAACAACCCCTTCAAAGTAAAAGGAAACT TATTTCATTATACCTCTCACCACTAAGAAGAGAGAACAATGCCCAATAGA GGTTCTAGAGGCAGCATATTCCATATTTTAGGATACAGATGCCCCTCAGC TTATGATATGGTTATGTCCCAATAAACCCATCATAAGTTGAAAATATTGT CAGTCAAAAATGCATTTAATACACCAAACTTACCAAACATCATAGCTTAG CGTAGCTTACCTTAAACATGCTCAGGACACTTAGCCTACAACTGGGCAAC ATCATCTTGCTATACAGTATACTTTAGACTATCAGTTGTATATCCTTGTT ATTGTGTGACTTACTGGGAACTGTGGCTCACTGCTGCTGCCCAGTATTGA AAGAGTATTGTGCCACATATCACTAGCACAGGAAAAGACCAAAAATCTAA GTACAATTTCTACTGAATACGTATGACTTTCCACTATAGTAAAGTTAAAG AATCGTTAAGTCAAGGGCATCATAAATTGGAGACCATCTGTACTACTCAA TACACCACATGATGATGTGAAAGGCTGCCAACTTTGTACAGGGTTTAGAG CATAAAAAGGCTCTGGAGCAGGACCAGGCTACCATGTAAGCAGCCTTGTT GTTTGAGATATATGACACAACACACACTATGGTATTCAAGATACCAGAGA TGGGAAAAGATGCCATGTTGAATTTATCACACATTCCCAATAGCAGAATC ACAATTTAGACCCCACGTGTTTTAGTGCAAGGTCATGCCACCTGAAGTGG AAAATTATATACCATTTGAAATGCTTTTGAGCCATAGTAGAAATGGAGCA TCTCATCATGGAACATCAAGTGATCTTGTCATATAGCCAGAACTGCCCAA TGTGAGTAAGATTCTAAGAGATCCTAGACTGCATTGTAAGGTTTGATGGA CCTAAATGCAGATGCGGTACATCTGGAATTGGTCATGATCAGGGCCAGAG GGCACAAGTAAGCTGCACGAGTAGATGGACCAGGTTTCCATGTCATCCAT CACTATCGCATTTGCACCTCCCCCTCAGCCCACATTGAGGCCACATTATT TATGGTAGTGGTAGTTATAGGGTATCCTTTAGGGTTGGCTGAGGGGTGAG GAAAAATACCAAGCTTGGTTCATAGATGGGTTAATTCAGTATGGGGATGT AAGCCAAAAGTGTACTTCTGGTGTACAATAGCCCTGCTCAGAATGACATT GAGCCTGAACACACTGAGTCATTCACTCTGTCTAGAAGACAGATTTCAGG GGAAATTCTTCCAAGGAACATATCTTCAGGTAGTACACTTAGTTATTCAT TTTGTGTGGAAAAAGAAGTGGTCTGAGTTGACAATGTGTAACAGAAAGAT CAAGGACAAGAAAGTCCAAGAAAGAGGCATGTGATATACCCAGGAGAATG TGGATAGACCTA	T T	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0060 a0001c0002t0002g0060	1	132	0.0076	-1811	c.-28 others(21): Show c.-284-54373_-284-52563del		RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	3/4						chrX	TogoVar
PIK3C2G_chr12_18256518_18653416	18570336	GTAGCTGG others(1803): Show GTAGCTGGGATTACAGGCGCCCACCACCACACCCAGCCTATTTTTGTATT TTTAATAGAGACGGGGTTTTGCCATGTTAGCCAGGCTGGTCTTGAACTCC TGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACA GGCGTGATCCCACTGTGCCCAGCCTGAGATGCACACTTTATTAATACACA CACTCAAGCAGCAAGTAGAGAACAAGAGAGAGAGGGCAAGGGACCTGTGG ACCAAAGCCTTTATTGCAGTATAGGGCATTATCCAAGCAGGTTTCCCACA GGGAGTTCTAATTAGAGGATTTAGGGCAAGCAGGTGCAGGTTCTATAGAG TTGAATGGTGACTGAAGTTAGTCATTGTAGCATATCTATGCAATGCAAGC AGTGTGTGGGTATGAGTAGAGTGAGTCAAGAAGTTTATATCTATCTGACC CATAGAGAGATGGTCACCAGGAGGTAGTTGTATAAGAAAGATCTGGATCG ACCACATCAAGGAGCTCGAAGGCAGAGAACCGAAAACTGTCAAAGATGAC TAAGAGTTTCTTCTAGTATTTGAAAGTGCAACTTATATTCAAAATAAATG CCACGGCAAAGGAAAATTATAGAGATTCACTACAGATGGCTGCTTAACTT TACTTTCAACCTATCTAACTTACACATTTAAAATTCGACTCCCTTCTAGT AAAGGTTTGATTGCACCCCACAAATCTCTCTATACAATATTGTATATACA AATTTGATATACAATACCATATTTTCTTTCTTATTCTTTCAAAATATTTA TAAACTTTTCATTGTGATTTCTCTTGTGGCCATGGATTTTTAGGAAATAC TTTTTAATTTTTTCAAATATATTTAGCCTCTTTTTTGTTATTTCTAGATT AAGTATGTCAGAGAATACACCTATAGTTTCAATTTTTTCTAAATTTTGCA ATGTTTTATGATCCTAAATATGGGCAATTTCGGTAAAAATTCCATGCATG CTTTAGAAGAATGCACCCTGTAGTTGTGAGATGCAGTGTTCTACACGTGT ATATTAGTGCAAATTGTCATCTTGACTGGTTTTTGTTTGTTTGTACCAGT AGAGGTTTATAGAAATATTCCACTATATTTATACATCTAACTACTTCTCA TTATCTTCCTGTTAATTTTTGCTTTATATATTTTGTGACTGTTATTAGGA TCACTTACATGGAGAATTGTTATATTTTTCCCATTATATTGAAATTTTCA CTAACGTTCACGTGTCTCTCCTATCTCTAACGATGCCTTTTGTCTGAAAA ATCTTTCTTCTGTATTACTAATATAGCCAAGCCAGCTTTATTTTGGCTAG TGTCTGCATGATACAACTTTTTCCATTGCTTTACTTTCATCATTTCATAT TTTTCCATTTCAATGATCACTCTTATAAGCAACACACAGATGGGTTTTTT TCTAAATCCAGTAACATAATTTTCATCTTTTACTTGTACTGCTTAATTAT TTACACTTGCTACTGTCATTGATAAATACATGTGTGCATGTGTCTATGTG TATATGTTATACTCAAGTCTATCACCTAATGCTTTTTCTCTTTTCTTCCA TTCTTTTTTTAAATTTAGTATTTATTTTTCCATTTTGTCCTATGTAACCT CAGTAGTTATAAACTCTTCTCCTGTTAGGAATTACCATAGACATTAAACT ATGTGTCTTTGACTTATTTAAGTCTAAAATAAATTAGAATTTTTATGAAT TTCCCAATGATACAAGGTCCTTAGAGCCCTATGCCTATTTAACCCACTTG TGTCTTATATT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02559.hp1 others(7): Show HG01884.hp1 HG02109.hp1 HG02559.hp1 HG02622.hp2 HG02717.hp2 HG02809.hp2 HG02895.hp2 HG03453.hp1 HG03453.hp2 HG03540.hp1	a0002 a0004 a0005 others(1): Show a0002 a0004 a0005 a0013	a0002c0023 a0004c0006 a0004c0015 others(3): Show a0002c0023 a0004c0006 a0004c0015 a0005c0011 a0005c0050 a0013c0038	a0002c0023t0002 a0004c0006t0001 a0004c0015t0001 others(3): Show a0002c0023t0002 a0004c0006t0001 a0004c0015t0001 a0005c0011t0001 a0005c0050t0001 a0013c0038t0002	a0002c0023t0002g0117 a0004c0006t0001g0070 a0004c0015t0001g0010 others(7): Show a0002c0023t0002g0117 a0004c0006t0001g0070 a0004c0015t0001g0010 a0004c0015t0001g0069 a0004c0015t0001g0150 a0005c0011t0001g0042 a0005c0011t0001g0047 a0005c0011t0001g0048 a0005c0050t0001g0045 a0013c0038t0002g0072	10	174	0.0575	-1810	c.401 others(19): Show c.4011+3280_4011+5089del		PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	29/32						chr12	TogoVar
DCANP1_chr5_135439214_135452348	135445852	ATTCACAT others(1802): Show ATTCACATTCTTGGAAAAGCAGAGGAATGCGAGGGTTAAAATACCTTAAA GGGCAAGGAGATGATTTCTAGATTTCCAGACAATGTCTCAGAGAATTGTA GTGCTCTGGGGTATGCCTGAATGTAACTAATGTAGCTCCTTTTGTGCCTG AGTGTAGACTGGGTCCATGTGCCTACATGCATTCAGTTCCTCCCACCAAA CTGGACAGTGATAGCTAACCCTGTTGACCCTTATGTCTGGGTGCCTTAAA TTTGTGATGCCTCAAACTGACCTTCACAATGACTCTAAGGAGGTAAGTAC TGTGAACTTTCCCGTTTTCTACAAGAAGAAACTGTGGCACGGAGAGATTC AGTTACTTGTCCAGGATCACAGAACTATAGTAAGTGGGGGTGGGGACAAG AATTCTAACCCAGGCAGCAGTCTGACCAGAGGGCCCTAGCTGGGAGCAGC GTTCATGTGCACTGTATGTTCGTGTTTAGTGTATGTCTGTGCATACTTGC GTGTGTGCACACGCACACATGTTCACTCAGGCACGTGGGCTGCCCTGCGG TGGGAGCTGAGAGAATGCAGTGGAGGTTGTTGGGAGGAACTCACCCGCCT GCTCTGGCTGTCTGAGCAGGTGAGGGATAGTGATATCAAGTGCGAAGACC AGGCCCTGAAGCCAGCCTGACGGTTCCAGCTGTTAGGAGAAAGTGAAGGT GGGTGCCATGGATCTGATGATTTCAGTGATTTTCTACTCAAGAAAAATGA AGTCTCGGATGGGCAGAGCTTAACTGCCTTAAAAACTTGGTACAGGGCAA GGTGTGAGTTTCCCGGTGAGACTGTGTGAACTGTGAACGGGTAGAGTCTG AAACTACAAACCAGATGTTTCCGGGCTCCCTCCCGCCTGGTCTGGCCTGT CTTCCTTCTGCTGCTATGCAGTTCATCCTGGGTCCCTGAGGGCCTCGCAG ATGCTTCACTCGAAAGATTGGAGTTGCAGAGTCCCCTGTGGAGGAATTGA ACTGCCCCCTCTCGCAGGACCCCAGCTGGCAAGGTTTTGTTCCTCCCTGG AGGGTAGAGACCCTCACTGAGGCCCTGGAGAGGGGCACTCAGGGGCAGCA GCTCATTCCCAAAGTTCTCTGGTGGAGCTGGGGAGTGGCACCCTGGGAAC TCTGGGGTTTCCCCACCAGCTCCTCTCTCCAGTCTTTGGTGTCCAGGTAC AGTCTCCAGGCCGTGGCTTCTCGAGTTCTGTATGTGGGTTGCTGCTCCGT AATGCATAGTTGGGGGACCATTTTGGTCAGTGACAGATCACTGCTGCTTT TCATCAGACCAAAATACATGTGGCTTCTTCTCCTTGCCAGCCCTACCAGG GCATCTCCCATTATACTAACCCTGCCTATTGGACCTTCTGATGCAAGGAG CAGATTAAAATCCCCTCCCTGTTGCCTACCAGGTCCGTGGCTACAACTAA ATCCCTAGTTGGGGAATCACAGAGCACAGGTAAGCCCTTGGGTTCTGGAG CCAGCTTACTGGGGTGTGAGTCTTCCTTAGCTCCGTGTGGATGGTGAGCC CTCCTCTCTCAGGTCTCATGATAGTAGCTAACCCTTATTAAGTGTGTGCT GGGCACTGATTGAATGCTTTACAGGTGTCACCTTCTAAGACCCTCGTAAC TCTAGCAGGTAGTACTATTATCTTACCCATTTTCCAGCGGGAGAAATAGA GGCAAGAGCAGACTAAATCACTTGCCCAAATCGCATAGCTACTGATGGTG TGATGTTGGGCAAGATATGTAACCTTTCCAAGTCTCAGTTTCCTTATCTG TTAAGTGCAG	A A	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0000 a0002c0000	a0002c0000t0028 a0002c0000t0028	a0002c0000t0028g0000 a0002c0000t0028g0000	1	454	0.0022	-1809	c.-55 others(9): Show c.-553_*521del	p.Met others(3): Show p.Met1fs	DCANP1	ENSG00000251380.3	transcript	ENST00000503143.3	protein_coding	1/1	1496/3135	1/735	1/244			chr5	TogoVar
RPH3AL_chr17_207389_357807	253977	TGCACGGC others(1802): Show TGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCATGGCGTCTGTCCTGTTCCATCCCTAGGAA CGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAG CTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCATGGCGTCTGTCCTGTTCCATCCCTAGGA ACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTC CTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGA GCTGCACGGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACG TACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGG AATATGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGT CCTTTTCCATCCCTAGGAATGTGACTACCCAACGTACTTCCTATGAGGGG AGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTAC GTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAG GAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTG TCCTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGG GAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTA CGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTGTTCCATCCCTA GGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCT GTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGG GGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCT ACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCGTCCCT AGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCATGGCGTC TGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAG GGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCC TACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCATCCC TAGGAATATGACTACCCTACGTACTTCCTATGAGGGGAGCCGCATGGCGT CTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGA GGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACC CTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTGTTCCATCC CTAGGAATGTGACTACCCAACGTACTTCCTATGAGGGGAGCCGCACGGCG TCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATG AGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTAC CCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCATC CCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGC GTCTGTCCTGTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTAT GAGGGGAGCC	T T	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA19056.hp1 NA18999.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0011 a0001c0001t0019g0012 a0001c0001t0019g0011 a0001c0001t0019g0012	2	54	0.0370	-1809	c.439 others(17): Show c.439-8501_439-6693del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9						chr17	TogoVar
TIFAB_chr5_135439226_135457351	135445852	ATTCACAT others(1802): Show ATTCACATTCTTGGAAAAGCAGAGGAATGCGAGGGTTAAAATACCTTAAA GGGCAAGGAGATGATTTCTAGATTTCCAGACAATGTCTCAGAGAATTGTA GTGCTCTGGGGTATGCCTGAATGTAACTAATGTAGCTCCTTTTGTGCCTG AGTGTAGACTGGGTCCATGTGCCTACATGCATTCAGTTCCTCCCACCAAA CTGGACAGTGATAGCTAACCCTGTTGACCCTTATGTCTGGGTGCCTTAAA TTTGTGATGCCTCAAACTGACCTTCACAATGACTCTAAGGAGGTAAGTAC TGTGAACTTTCCCGTTTTCTACAAGAAGAAACTGTGGCACGGAGAGATTC AGTTACTTGTCCAGGATCACAGAACTATAGTAAGTGGGGGTGGGGACAAG AATTCTAACCCAGGCAGCAGTCTGACCAGAGGGCCCTAGCTGGGAGCAGC GTTCATGTGCACTGTATGTTCGTGTTTAGTGTATGTCTGTGCATACTTGC GTGTGTGCACACGCACACATGTTCACTCAGGCACGTGGGCTGCCCTGCGG TGGGAGCTGAGAGAATGCAGTGGAGGTTGTTGGGAGGAACTCACCCGCCT GCTCTGGCTGTCTGAGCAGGTGAGGGATAGTGATATCAAGTGCGAAGACC AGGCCCTGAAGCCAGCCTGACGGTTCCAGCTGTTAGGAGAAAGTGAAGGT GGGTGCCATGGATCTGATGATTTCAGTGATTTTCTACTCAAGAAAAATGA AGTCTCGGATGGGCAGAGCTTAACTGCCTTAAAAACTTGGTACAGGGCAA GGTGTGAGTTTCCCGGTGAGACTGTGTGAACTGTGAACGGGTAGAGTCTG AAACTACAAACCAGATGTTTCCGGGCTCCCTCCCGCCTGGTCTGGCCTGT CTTCCTTCTGCTGCTATGCAGTTCATCCTGGGTCCCTGAGGGCCTCGCAG ATGCTTCACTCGAAAGATTGGAGTTGCAGAGTCCCCTGTGGAGGAATTGA ACTGCCCCCTCTCGCAGGACCCCAGCTGGCAAGGTTTTGTTCCTCCCTGG AGGGTAGAGACCCTCACTGAGGCCCTGGAGAGGGGCACTCAGGGGCAGCA GCTCATTCCCAAAGTTCTCTGGTGGAGCTGGGGAGTGGCACCCTGGGAAC TCTGGGGTTTCCCCACCAGCTCCTCTCTCCAGTCTTTGGTGTCCAGGTAC AGTCTCCAGGCCGTGGCTTCTCGAGTTCTGTATGTGGGTTGCTGCTCCGT AATGCATAGTTGGGGGACCATTTTGGTCAGTGACAGATCACTGCTGCTTT TCATCAGACCAAAATACATGTGGCTTCTTCTCCTTGCCAGCCCTACCAGG GCATCTCCCATTATACTAACCCTGCCTATTGGACCTTCTGATGCAAGGAG CAGATTAAAATCCCCTCCCTGTTGCCTACCAGGTCCGTGGCTACAACTAA ATCCCTAGTTGGGGAATCACAGAGCACAGGTAAGCCCTTGGGTTCTGGAG CCAGCTTACTGGGGTGTGAGTCTTCCTTAGCTCCGTGTGGATGGTGAGCC CTCCTCTCTCAGGTCTCATGATAGTAGCTAACCCTTATTAAGTGTGTGCT GGGCACTGATTGAATGCTTTACAGGTGTCACCTTCTAAGACCCTCGTAAC TCTAGCAGGTAGTACTATTATCTTACCCATTTTCCAGCGGGAGAAATAGA GGCAAGAGCAGACTAAATCACTTGCCCAAATCGCATAGCTACTGATGGTG TGATGTTGGGCAAGATATGTAACCTTTCCAAGTCTCAGTTTCCTTATCTG TTAAGTGCAG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0062 a0001c0001t0040g0062	1	454	0.0022	-1809	c.17 others(11): Show c.1793_*3601del		TIFAB	ENSG00000255833.2	transcript	ENST00000537858.2	protein_coding	2/2				1793		chr5	TogoVar
ADAMTS17_chr15_99966437_100346975	100069740	GAAGCACT others(1799): Show GAAGCACTAAACATGGAAAGGAACAACTGGTAACAGCCACTGCAAAAACA AGCCAAATTGTAAAGACCATCAAGGCTAGGAAGAAACTGCACCAACTAAC GAGCAAAATATCCAGTTAACATCATAATGACAGGATCAAATTCACATATA ACAATATTAACCTTAAATGTAAATGGGCTAAATGCTCCAATTAAAAGACA CAGACTAGCAAACTGGATAAAGAGTCAAGACCCATCAGTGTGCTGTATTC AGGAAATCCATCTCATGTGCAGAGACACACATAGGCTCAAAATAAAAGGA TGGAGGAAGATCTACCAAGCAAATGGAAAACAAAAAAAGGCAGGGGTTGC AATCCTAGTCTGATAAAACAGACTTTAATCCAACAAAGATCAAAAGAGAC AAAGAAGGCCATTACATAATGGTAAAGGGATCAATTCAACAAGAAGAGCT AACTATACTAAATATATATGCACCCAATACAGGAGCACCCAGATTCATAA AGCAAGTCCTGAGTGACCTACAAAGAGACTTAGACTCCCACACAATAATA ATGGGAGACTTTAACACCCCACTGTCAACATTAGACAGATCAACGAGTCA GAAAGTTAACAAGGATATCCAGGAATTGAACTCAGCTCTGCACCAAGTGG ACCTAATAGACATCTATAGAACTCTCCACCCCAAATCAACAGAATATACA TTCTTCTCAGCACCACACCACACTTATTCCAAAATTGACCACTTAGTTGG AAGTAAAGTACTCCTCAGCAAATGTAAAACAATAGAAATTATAACAAACT GTCTCTCAGACCACGGTGCAATCAAACTAGAACTCAGGATTAAGAAACTC ACTCAAAACTGCTCAACTACATGGAAACTGAACAACCTGCTCCTGAATGA CTACTGGGTACATAACGAAATGAAGGCAGAAATAAAGATGTTCTTTGACA CCAACGAGAACAAAGACACAACATACCAGAATCTCTGGGACACATTTAAA GCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCCCACAAGAGAAAGCA GGAAAGATCTAAAATTGACACCCTAACATCACAATTAAAAGAACTAGAGA AGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGCAAGAAATAACTAAG ATCAGAGCAGAACTGAAGGAAATAGAGACACAAAAAACCCTTCAAAAAAT CCATGAATCCAGGAGATGGATTTTTGAAAAGATCAACAAAATTGACAGAC CACTAGCAAGACTAATAAAGAAGAAAAGAGACAAGAATCAAATAGATGCA ATAAAAAATGATAAAGCAGATATCACCACTGATCCCACAGAAATACAAAC TGCCATCAGAGATACCATAAACACCTCTATGCAAATAAACTAGAAAATCT AGAAGAAATGGATAAATTCCTTAACACATACTCCCTCCCAAGACTAAACC AGGAAGAAGTTGAATCTCTGAATAGACCAATAACAGGCTCAGAAATTGAG GCAATAATTAATAGCTTATCAACCAAAAAAAGTCCAGGACCAGATGGATT CACAGCCGAATTCTACCAGAGGTACAAGGAGGAGCTGGTACCATTCCTTC TGAAACTATTCCAATCAATAGAAAAAGAGGGAATCCTCCCTAACTCATTT TATGAGGCCAGCATCATCCTGATACCAAAGCCTGGCAGAGACACAACAAA AAAAGAGAATTTTAGACCAATATCCCTGATGAACATTGATGCAAAAATCC TCAATAAAATACTGGCAAACCGAATGCAGCAGCACATCAAGAAGCTTACC CATCAAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01257.hp2 HG01258.hp2 others(19): Show HG00099.hp1 HG01257.hp2 HG01258.hp2 HG01496.hp1 HG02004.hp2 HG02015.hp2 HG02071.hp1 HG02109.hp1 HG02523.hp2 HG02559.hp2 HG02698.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp1 NA18964.hp2 NA18983.hp1 NA18993.hp1 NA19009.hp2 NA19012.hp1 NA19056.hp1 NA19088.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0011	a0001c0002 a0001c0007 a0001c0014 others(11): Show a0001c0002 a0001c0007 a0001c0014 a0001c0038 a0002c0001 a0002c0011 a0002c0022 a0003c0006 a0003c0009 a0004c0003 a0004c0028 a0005c0020 a0006c0016 a0011c0062	a0001c0002t0002 a0001c0007t0002 a0001c0007t0018 others(17): Show a0001c0002t0002 a0001c0007t0002 a0001c0007t0018 a0001c0014t0034 a0001c0038t0008 a0002c0001t0004 a0002c0001t0013 a0002c0001t0038 a0002c0001t0055 a0002c0001t0061 a0002c0011t0023 a0002c0022t0035 a0003c0006t0047 a0003c0009t0049 a0004c0003t0001 a0004c0028t0001 a0005c0020t0004 a0005c0020t0017 a0006c0016t0058 a0011c0062t0068	a0001c0002t0002g0169 a0001c0007t0002g0057 a0001c0007t0018g0046 others(19): Show a0001c0002t0002g0169 a0001c0007t0002g0057 a0001c0007t0018g0046 a0001c0014t0034g0017 a0001c0038t0008g0192 a0002c0001t0004g0191 a0002c0001t0013g0019 a0002c0001t0038g0051 a0002c0001t0055g0074 a0002c0001t0061g0141 a0002c0011t0023g0207 a0002c0022t0035g0040 a0003c0006t0047g0134 a0003c0009t0049g0086 a0004c0003t0001g0101 a0004c0003t0001g0136 a0004c0028t0001g0155 a0005c0020t0004g0220 a0005c0020t0004g0221 a0005c0020t0017g0198 a0006c0016t0058g0096 a0011c0062t0068g0055	22	226	0.0973	-1806	c.213 others(21): Show c.2138-17492_2138-15687del		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	15/21						chr15	TogoVar
TSPAN16_chr19_11291160_11320967	11302879	TGGCTAAT others(1799): Show TGGCTAATTTTTTTTTTTTTTTTTGTAGATATGGGGTTTCACCATGTTGC TCAGGCTGATCTTAAAAACTCCTGGCCTCAGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCCGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACG GGCCAGGATGACAATCGCGGCTTTGTGGAATAGAAAGGGGGGAAAGGTGG GGAAAAGATTGAGAAATCGGATGGTTGTCGTGTCTGTGTAGAAAGAAGTA GACATGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCC TTGGGATCCTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAA ACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGAT GTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCGTC ACCACTCCCTAATCTCAAGTTCCCAGGGACACAAACACTGCGGAAGGCCG CAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCT GCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTG TGAGAAACACCCAAGAATGATCAATAAAAAATAAATAAATAAATAAATTA AAAAAAAAAAAAAAAAAAACTCCTGGCCTCAAGCGATCCTCCTAACTCAG CCTCCCAAAGTGCTGGGATTACAGGGGTAGCCACCACACTGGCCTACGTT TTTTGAGGAACTGCCAGACTCCTTTCCACAGTGGCTGCACCATTTTCCAT TCCCATCAGCAATGCAGGAGTCTAATTTCTCCACGTCCTTGACACCTGTC ATTTTCTGGGTTTGTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAA GTTGGAGTGCAGTGGCGCAATCTTGGCCCACTGCAACCTCCGCCTCCTGG GTTCAAGTGATTGTCCTGCCTTAGCCTCCCAGGTAGCTGGGATTACAGGC GTGCACTACCGTACCTGGCTAATTTTTGTCTCTAGTAGAGACAGGACTTC ACCATGTTGGCCAGGCTGGTCTCAAATTTTTGACCTGAAGTGATCCACCC ACCTTGACTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCACG GCCAATTTTCTGTTATTTTGATCATTGCCATCCTAATGAGTGTGAGGTGG TGAGACTCCCATCTTGATTCTTGGCATTTAAGGAGCAAGACTGGCCTTTA AGTGTTATTTAAGCTTTTGAGACAGGTGGTTGAGGCCAGGCAGGGAGGGT TCAAAGTGGGGAAAGCCATTGCCTGTCTCCAGGAGCATTTCACACCTGAG TTGTAGGTCCAGGAGCTGCTGTGGGTTGATGGCCAGGCTTTGAAAGGAAC ATGTGATAGGGAACAATTTATTTATGTACTTAAGACAGAGTCGTACTCCC AAAACTCAGGCTGGAGTTCAGTGGCGCAATCTCGGCTCACTGCAGGCACA ACTTCCCAAGCTCAGGTGATTCTTGTACCTCAGCCTCCCGAGTAGCTGGG ACTACAGGTGCACACCACCACACCCAGCTAATTTTTAAAATTTTTATTTT TATTTATTTATTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTG CAGTGGCATGACCTCGGCTCACTGCAAGTTCCGCCTCCCAGGTTCATGCC ATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCCTGCCAT CACGCCC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp1 HG02886.hp2 others(1): Show HG02451.hp1 HG02559.hp1 HG02886.hp2 NA19030.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0004 a0004c0005t0004 a0001c0001t0004 a0004c0005t0004	a0001c0001t0004g0019 a0004c0005t0004g0045 a0001c0001t0004g0019 a0004c0005t0004g0045	4	380	0.0105	-1806	c.450 others(17): Show c.450+1584_451-1907del		TSPAN16	ENSG00000130167.14	transcript	ENST00000590327.6	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
TYW1_chr7_66991833_67244514	67232498	GCCACTGC others(1799): Show GCCACTGCACTCCAGCCTGGGCAACAGAGCATGACTCCGTCTCAAAAATA AATAAATAAAAATAATAATAAAAAATAAAGAGCACCCTAATGGTTTGGGG TTGACTCTATCTTGGAGTGATCTGCTGGATCATTTCCTTAGGGAATCCCA ACCTCAGTATCTTGTCATCTGTCTTCTTGGGCTGGTCAGTAGGGTCTTCT CATTTTCTGCAGCTTGCAATGGTCCCTGGTGGTCCAGAAACAGGAAAGGA AATAGTTTTATTATGGCAGCCCTGCTCTCAGCTATACCTGCTGTCCCACA GACCACAGATCCTTTCTGAATTGTCTTCTGAGAAGAAACCTCTAAGCATC TGTCGGGGCATGGAGTGGGCAGGTGCTCAGCTGTGAATATATGCAGGGGG CTCAGGAACTTGAGATTCTAATCGTGTCTTAAACAGAATATAAACCTGCC TTTGGGTTTTTGGTGGGGAGTGGGTTTGGTACCTCCTCAATCCATGCTTC CTGTCGGGGGAACTAGTGCAGCCAGTTTCTGAGCCTTTGAGGAATTCTAA AGCATAATTTGGGCTGAATCTTGGATTTCTCTATTTGCTGGCTTAGGATT CAGCTCTCTTGGGTCTGCTAAACCAGTTTGCTCACCCATCATCTGTTCAG CTTCTGAAAGTCCAATACTGTTTTCTCCTCTCCTGGTAGCTTTATTTTTA TGTTATATATCTTTTTTAAATGTTCTTACTGTCATTTTAGTGGGGTTTCA AGAGGAAGTAATAGTAAATGCATGTGTTTAATCTACCATCTTTAATAGAA TCTTTTTAAACATTTACACTAACAGAGAACCTATGCCATTATTATTGTTT AGCGAAATTCTCCCTGTGTGAAAGAGGAGAACATAAGGAGAACAAGGCCC TTTGTACAGCAGTTTGATTCTTGCAGAGAGTGGGAGCCTGCATTGCCTCA TCTAGCCAGCAAGGCCACAGACCCTTAGCAGCCTGGCTTTTTTAAGTCAG GCTGTATCTTATTGCACTTGTGTGTTTTTAAGATCATTTATGACCTTTTG AGTTTATTTGTAATTCTGCATAGATTCCGTTCTTCCCTTACTGTTGGATT CGAGGGATTCTTTTAGCAGGGTGACCTCGTGTCTCAGGATACTTAACTTC AGATTTTACGATTTGGGGTCTCATGCCTCTGTTTATGCAGCTGTCTCTCA GCGCTGTTTGTGTGTCAGTCATACCAAATTTTGCTCTTTCAGCTTCTGCC TTTTACATGGAACACTTTGATTTTTTCTGAGCTGTGATTATTCAGTATGA TTCGTCTCAGATTGCCCTGAGAGGCGGCACATGTGGTTCAGTTTTGTCTT TTGGGTCTAGTGGTTCTGTTCATTTCAGAATAACTTACTCTTAAGGACTG AATGTTTGTGGCCCCCCTCCCCTCCCAAGTTCATAGGTTGAGGTCCTAAC TCCCAGCGTGGCTATATTTGGAGATGGGGTTTCAAAGGAAGCAACTGGGA TTAAATGAGGTTATAAGGGTAAGCCCTGATCTAATAGGATCAGTGTCTTT ATAAGAAGAGACATCAGGGCTGGGTGCGGTGGCTCATGCCTATGATCCTA GCATTTTGGGAGATCAAGGTGGGAGGATCACTTGAGGCCAGGAGTTCAAG AGCAGCCTGGGCAAAATAGCTAGACCCTTTCTCTACAGAAAATTTAAAAA TTAGTTGGGCATGGTGACATGTACCTGTAATCTGAGCTACGCAGGAGGCT GAGGTGGGAGGATGGCTTGAGCCCACAAGATTGAGGCTGCAATGTGCAAT AGTTGCA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG00642.hp1 others(78): Show HG00323.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01891.hp1 HG01943.hp2 HG01993.hp2 HG02004.hp1 HG02109.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18946.hp2 NA18957.hp1 NA18970.hp1 NA18975.hp1 NA18981.hp2 NA18985.hp1 NA18990.hp1 NA18994.hp2 NA19030.hp1 NA19043.hp1 NA19058.hp1 NA19077.hp2 NA19086.hp1 NA19087.hp2 NA19240.hp2	a0002 a0003 a0007 others(1): Show a0002 a0003 a0007 a0011	a0002c0003 a0002c0004 a0002c0007 others(3): Show a0002c0003 a0002c0004 a0002c0007 a0003c0005 a0007c0012 a0011c0009	a0002c0003t0002 a0002c0003t0004 a0002c0003t0013 others(6): Show a0002c0003t0002 a0002c0003t0004 a0002c0003t0013 a0002c0004t0002 a0002c0004t0004 a0002c0007t0002 a0003c0005t0002 a0007c0012t0002 a0011c0009t0004	a0002c0003t0002g0005 a0002c0003t0002g0123 a0002c0003t0002g0124 others(78): Show a0002c0003t0002g0005 a0002c0003t0002g0123 a0002c0003t0002g0124 a0002c0003t0002g0136 a0002c0003t0002g0137 a0002c0003t0002g0210 a0002c0003t0002g0211 a0002c0003t0002g0214 a0002c0003t0002g0215 a0002c0003t0002g0220 a0002c0003t0002g0221 a0002c0003t0002g0223 a0002c0003t0002g0224 a0002c0003t0002g0225 a0002c0003t0002g0226 a0002c0003t0002g0228 a0002c0003t0002g0229 a0002c0003t0002g0230 a0002c0003t0002g0234 a0002c0003t0002g0235 a0002c0003t0002g0240 a0002c0003t0002g0241 a0002c0003t0002g0242 a0002c0003t0002g0243 a0002c0003t0002g0244 a0002c0003t0002g0245 a0002c0003t0002g0246 a0002c0003t0002g0247 a0002c0003t0002g0248 a0002c0003t0002g0249 a0002c0003t0002g0251 a0002c0003t0002g0252 a0002c0003t0002g0254 a0002c0003t0002g0255 a0002c0003t0002g0363 a0002c0003t0004g0172 a0002c0003t0004g0205 a0002c0003t0004g0206 a0002c0003t0004g0207 a0002c0003t0013g0219 a0002c0004t0002g0283 a0002c0004t0002g0289 a0002c0004t0002g0302 a0002c0004t0002g0306 a0002c0004t0002g0308 a0002c0004t0002g0309 a0002c0004t0002g0358 a0002c0004t0004g0282 a0002c0004t0004g0287 a0002c0004t0004g0288 a0002c0004t0004g0290 a0002c0004t0004g0291 a0002c0004t0004g0292 a0002c0004t0004g0293 a0002c0004t0004g0295 a0002c0004t0004g0296 a0002c0004t0004g0297 a0002c0004t0004g0298 a0002c0004t0004g0299 a0002c0004t0004g0300 a0002c0004t0004g0355 a0002c0004t0004g0356 a0002c0004t0004g0357 a0002c0004t0004g0360 a0002c0004t0004g0361 a0002c0004t0004g0362 a0002c0007t0002g0232 a0002c0007t0002g0238 a0003c0005t0002g0012 a0003c0005t0002g0195 a0003c0005t0002g0196 a0003c0005t0002g0197 a0003c0005t0002g0198 a0003c0005t0002g0199 a0003c0005t0002g0200 a0003c0005t0002g0201 a0003c0005t0002g0202 a0003c0005t0002g0203 a0003c0005t0002g0204 a0007c0012t0002g0227 a0011c0009t0004g0294	81	362	0.2238	-1806	c.197 others(19): Show c.1978-5789_1978-3984del		TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
BPTF_chr17_67820503_67989378	67949026	CGATTCTG others(1798): Show CGATTCTGTAGGTATTGCTAACCTGCTTTCTAGAGGAATTTATTAAAAAA TGAAAGTAGGCTGGCTGTGGTGGTTCATGCCCATAATCCCAACACTTTGG GAAGCCAAGGTAGGCAGATTGTTTGAGCCCAGGAGTTCAAGATCAGCCTA GGCAACATGGCAAAACCCTGTCTCTACAAAATACACAAAATTAGCCAAAC ATGGTGGCATACGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAT GATCACTTGAACCCGGAAAGCAGAGGTTGCAGTGAGCCTTGATCGCACCA CTGCACTCCAGGAAGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAG ACCAGCCAGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCTGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGATGCT GAGGCAGGATAATCGTTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGA GATCACACCACTACACTCTAGCCTGGACAACAGAGTGAGACTCCATCTCA AAAAAAAAAAAGTAGACATCTATTTATACATATATATACACACACACATA TATACACATACGTACATATATATATATACACACAGACATATATATATATA CACACAGACATACATATATATATACACACATGTATATATATAATTTACAC ATAATTACACAGCTTTTTTAAAGAGAAGTAGGTTATCTCAAGCATTTCAA GGCCAGACACGGTGTCTCACGCCTGTAATCCCAGCACTTTGGGTGGCCGA GGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCTAACGTGGT GAAACTCCGTCTCTACTAAAAACAAAAATTAGCCGGACATGGTGGCAGGT GCCTGTAATCCCAGCTAGTTAGGAGTCTGAGGTGGGGAGAATTGCTTGAA CTAGGAAGGTGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAA CCTGGGCAACAGAATGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAACAT TTCATAACATATCTTAAACATTTTAAGAAGGTGAGAAATAGACCAGGCAC AGTGGCTCATGCCTGTAATCCCAGCACTTTGGAGAGGCCGAGGCGGGCAG ATCACTTGAGCTCAGGTGAAGGTTGCAGTGATGCGAAATCATGCCATTGC CCTCCAACCTGGGCGACAGAGTGAGACTGTCCCCCCGCCCCCACCGCCAA AAAAAGAAGATGAGAAATAGTAAGATAATATTAACCAGACTAATAATACT ACCTATCTGTGAAACATTAGAGATCTTCCAGTTAAAGTCAGAAACCAGAA ACCCCAGTGATGCCAACAATCAACGTTATTATTTAGCATTTCTGGAAGTT CTGGCAAATATGTTAAGCCAAGCAAAAGAAACAAAGACAAAAAATTGAGG AAAGAAGACATTGTTTTTATGTGTGGTATGATTATTACATCAAAACCCCA AGAAAATAATTATTACAATTTATAATTCAAGGCTGGGCACGGTGGCCCAC ACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGAGCGGATCATTTGAGG TCAGGAGTTCGAGACCATCCTGATCAAGATGGTGAAACCCCATCTCTACT AAAAATACAAAAAAATTAGTCAGGCATGGTGGTGGGTGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCTAGAGCAGAGG TTGCAATGAACTAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGT GAGACT	C C	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	272	0.0037	-1805	c.792 others(18): Show c.7926+721_7926+2525del		BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	23/27						chr17	TogoVar
DACH2_chrX_86143451_86837602	86781338	AAGAGCAA others(1798): Show AAGAGCAACCAACCAGCTTCATTATGTTCCTTGGTTCTCCATATATGGTC AAAGTATTATGTATAGAGTCACTAAATTCCTTGCTTCTCACAAGTAGTGA ATCAGGAGTGTCAAATGCATTTATTTTGCATAACTTTCTAAACAGTTCAC CCCAAGAACTATCAGCGTTCTCCATACTATTAAAAGTAAAATCTTTAGCA TTTGGGGGTCTAATCATATTAAGCAGCCAACTGTAGAAACCCCAAAACCA ATGAAAGAACTCCATTCTTAATATTCTGTTCCTCTAGAACCACTCCTGGT ACCAAAATCTGTACTAGTCAGGGTTCTCTAGAAGGACAGAACTAATGGAA TATATATATGGGGATTTTATGCAGACCCACAGCTAGTATCACACTGAAAG GGGAAAACATGAAAGCTTTTCTTCTAAGATCTGGAACATGACAAGGATGC CCACTTCACCATTGTTACTCAACATGGTACTGGAAGTCCTAGCTAGAAAA ATCAGACAAAAGAAAGATATAAAGGGCATCCATATTGGAAAGAAATAAGT CAAAGTATCCTTGTTTGCAAATGATATGGTCTTATATTTGGAAAATTTTA AAGACTCCACAAGAAAACTATTAGAACTGATAAACAAATTCAGTAAAGTT GCAGTATACAAAGTAAACAAACAAAAAGCAGTAGCGTTTCTATAGGCTAA CAGTGAACAATGTGAAAAAGAAATCAAAAAAGATATCTCATTATCAATAT CACAATAGTGACACATAAAATTCAATGCCTAGTAATTAACCACAAAAATG AAAGATTTGTATAACGAAAAGTATCAAATGCTGATGAAGAAAATTTAAGA GGACACTAAAAAGTGGGAAAATGTTCTATGTTCATGGATTGAAAGAATCA ATATTGTTAAAATGTCCATACTACCCAAAGTAATCTATAAATTCAATGCA ATCTGTATTAAAATACCAATGACATTGTTCACAAAATTAGAAAACACAAT CCTCAAATTTATATGGAAACACAAAAGACCCAGAATGGCCGAAGTTACAA ACCAGTTACTCTCTTTAAGTTACTTTAAAATTTACAATTAAGTTTGTAAG AACTTAATTGTAAGCAATTAAGCAAAAAGAACAGAACTGGTGGAATCACA TTGCCTGACTTTCAATAATACCACAGAGCTATAGTGTCCAAAACAGAATG GTACTGGCATAAAAATAGACACATAAACCAATGGAACTGAATAGAAAACC CAGAAACAAATTCACACACCTACAGCCAATTTATTTTTGACAAAGTTACC AACAGCATACACTGGGTAAAACACATTCTTTTCAATAAATGGTGTTGGGA AAACTGAATATCCATATGCAGAAGAATGAAATATCAGACCAATGTCTCTC ACCATACACAAAAATCAGATCAAAATGGATTGAAAGACAGAAATCTAAGA CCTCAAACTATGAAACTACTACAGGAGAGCTTTGGAGAAAATCTCCAGGA CATTGTTCTTGGCAAAAATTTCTTGAGCAATACCCCACAACCACAGGCAA TCAAAGGAAAAAAAAAATGGACAAGTGGGATTATATCAAATTAAAAAGCT GCTGCATGGCAAAGAATACAATCAAAAAAGTGAAGCGACATCCCACAGAA TGGGAGAAAATATTTGGAAACTACCCATCTGGCAAGGGATTAATAACCAG AATATATAATAAACTCAAACAACTGTATAGGAAAAAAATCTTATAATCTG ATCAAAGAAAGGGCAAAAGATTTGAACAGACATTTCTCAAAAGAAGACAT GCAAAT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	166	0.0060	-1805	c.124 others(21): Show c.1241-31515_1241-29711del		DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	7/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
PC_chr11_66843420_66963383	66944010	AGTGGCTC others(1798): Show AGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGCCCGAGGCGGGCGGA ACACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACTCCG TCTCCAATAAAAATACAAAAAATTAGCCGGGTGTGATGGTGGGCGCCTGT AGTCCCAGCTACTTGGGAGGCTGAGGCAAGAGAATGGCATGAACTCAGGA GGAGAAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGT GACAGAGCAAGACTCCGTCTCAGAAAAAACAACTTCAGGCCGGCCGCAAT GGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCA CTTGAGGTCAGGAGTTCGAGACCAGCCTGCCCAACATGGTGAAACCCCAT CTCTACTAAGAGTACAAAAATTAGTTGGGCATGGTGGCACACACCTATAA TCCCAGCTACTCAGGAGTCTGAGGCAGGAGAATCGCTTGAACCTGGGAGG CAGGGGTTGCAGTGAGCCGAGATTGCACCACTGCATCCATCCTGGGTGAC ACAGCAAGACTGTCTCAAAAAATAAATAAATAAAAATAATAAATAAATAA ATTTCTATTGTTTATAAATTACCTAGAATAAGGTTATTTTGTTATAGCAG CCCAAAGGGATGAAGACAATGTATTTTGCCACAATTTTTTAAAATGGGGG ACGAAAAACTCTTGCAGCGCAAAAACCTAAGTCAGCCTCCTGCCAATTTC TCCCCCAAATGTCCTTTTCTTGTCACTCTACAAACCTCTGCTCTTACTCA CATTGGGCCACATGTGCATCAGACATCAACGGAGAGGTCAAACTGCATTA ATAATTCTCAACCAGGTCCACTCACCACCTACAAGCTTCCTGGGGCCATA CCCAGTGACCAGGACAGGAATGCAATTCTGCATCTAGTTATCATCCAAGA CGCAGATTTCTAACAAGAATTTGATGGCAATGGGCTCTCCAAAGATTGGT AGCTCTCCACCGGGAGGTTAGGGAGAGGCCAAAATTCTCACCATTTCCAG GGGCGTGAACTGAAGAACATGAAAAAGGTGGCACTGGTTCCAGATGCTAT AATTTATTGGTAACCAGGCGTGATCAGAAAGTAAGAACTCTTAAGTACCA CCCTCTTTCTCTTTATTTGAAAAGGTTTAAGAGATGGAAGGAAATGCCAG ACATGGACTCAGAAGACTGGGACTCAAATTCTAGCCCTGGTGGGTCAGAC ATGATTTTACTAGTCCTTGGTCAGAGAAAGCCTTGGGAGATACAGAGAAT CTAAAGAATCTAAACTGTATCTATTTTGTATTTAGTTCCACCTATTTTTG TGGCCATACTGCATAACAAAAAGGAAGCCTTAAATAGATTAACTGAATTC AAATGGTTTGGGGGGGCGGGTCGGAACTGCAGAGTTACATGAGATGAGAA GAGGAAGACATTAGTAATGTGATACTTCTATTTGAGGCACATGGGCTGTG AGACCATCCCCATTTGGAGGCAAAATGGTGGCAGTGGAGCAGGCTCTGCT TAGCAGTTAGATTCAAAGTCCAGTTTCATCCCTGCCAGGGGTCTCTTTAA TTATAAAGAAAATGTCATCCAGTTGAGAAAGAAAGGCCAAAAGTTAATTA GAAAAATAATTTACTATACTTTAAAATCATGTATTTAATTCCTTATTAGG TAAGCTTCTCTAATTCCAGGAAAATATTAGATTAAATATAGACAAGGCTA GGAAAATAAAAACCATAGTATTTATATTTTTGTGTTAAGAAATCTGGCCG GGCGCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(124): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00438.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01928.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp2 HG02293.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp2 HG03710.hp2 HG04184.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp2 NA18994.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19087.hp1 NA19090.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0011 a0002c0002 a0006c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0003t0001 a0001c0004t0001 a0001c0011t0001 a0002c0002t0001 a0006c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(123): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0110 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0003g0132 a0001c0001t0003g0150 a0001c0001t0004g0225 a0001c0001t0005g0226 a0001c0003t0001g0211 a0001c0003t0001g0213 a0001c0004t0001g0255 a0001c0011t0001g0164 a0002c0002t0001g0167 a0002c0002t0001g0168 a0006c0008t0001g0264	127	272	0.4669	-1805	c.-1+ others(15): Show c.-1+6615_-1+8419del		PC	ENSG00000173599.15	transcript	ENST00000393960.7	protein_coding	3/22						chr11	TogoVar
GLRA3_chr4_174631920_174834247	174704015	CTGGGCAC others(1797): Show CTGGGCACGGTGGCACAGGCATGTAATCCCATTTTTTGGGGGTGCTGAGG TGGTTGGATCACTTGAGATCAAGTGTTCGAGACCAACCTGGGCAACATGG CAAAACCCCATCTCTATCAAAAATACAAAAATTAGCCAGATGTAGTGGTG TATGTCTGTAGTCCCAGCTACTTGGGAAGCTGAGGTGGGAGGATCGCTTG AGCCTGGAGGTGGAGGTTGCAGTGAGCTGAGGTCACACCACTGCACTCCA GCGCGGGCAACAGAGTCAGACCCTATATACAAAAAATGGTGACAGCTCTG AGTAGTAAAGAATAGCAGCAAATGGCAGGATCACAGAAATAAAATGCTTT AAATTACAGGTGATCTAGGGTGTTCTAAAAAGTCTACTGATTCTCACACA AAGAAGATGGCTACTATCTGAATCACACATCCTAACAAGTGTTGGCAAGG GTGTAAAGAAATTGGAACTCTAGTGTACTGCTGGTGGAGTATAAGATGGT GCAGCTGCTATAAAAAATATGGCTGCTTTTTAAATAATTAAAAATGAATG ACCATATTATCTAGCAATTTTACCTCTGGATATATGTCCAAAAGAATTCA AAGCAGGGTCTCAAAAAGGTATTTGACATTCGTGTTCATAGCAGCATTAC TCACTATAGCCAAAATATGAAAGTAACCCATTTCCATCAATGGATGAATG GAGAAATAAAATATTATATACATACAATGGAACATTATTCAAACTTAAAA AGGAAGAAAATCCTGACATATACTATAACATAGATAAACTTTGAGAACTT TGTTAAGTGAAATAAGCCAGTCACACAAAGACAAATACTGTATGAATCTA CTTATATATGAATTTAGAGTAGCTAAACTCATATAAGCAAAATGTGGAAT GGTGGTTCTCAGTGGCAAGAGGAAGGGGGAAATGGAGAGTTGTTTAATGA ATGTAGAGTTCAGTTTTGCAAGATGAAATAGTTTGGGAGATTGCTTGTAC AACATTGTGAAGATACCAAATACTACTGAACCGAATGCTTGAAAATGGTT AAGATGGTACATTTTGTTTGTATATTGTTATACTTTGAATGTTTGTCCCT TCATAACTCATGTTTAAATTCGGTTGCAATTGTAGCAGAGTTAAGAGGCG AGACCTTTAACAGGAGATTGGGTCATGAGGTCTCTACCCTCATAGGTGGA ATTACTGCCATTATAAAAGGGTGGTTTCAGCCCCTTTTTGTGCCGGGCCC TTCTGTCTTCTGTGGGGTGATGCAATGAAAACGCCCTAGCAGATGCTGGC AGCTTCATTTTGGATTTTCCAGCCTCCAGAACTGTGAGCCAATACATTTC TATCCATTAAAAATGACCTAATCTGTGGTATTGTGTCATAGCAGCACAAT ACAGACTAAGACATGGATTTTACCACAATTAAAAAATAAAAGAAGAAAAG ACTGATGAATTTCTGGGGGAGGAAATAAAAGAGGGATGCACAGTGTGCAG AAGACCTTGTGGTATCATGACATGAGTTGAAAGTAGAACCTGGGTAAATA CAATGAATTAGCCTCCAATAGTCTTTTCAGTTATGTAAGAGAAGAGGGGA GTCATTCCGGACAACCAACTTGATGTTTTCTTTAATGGATCTTTGGGTGA AATATGGCTACAAGTGGGCTATATTAACTGCACTGTAAAAAATATGACCA AATTATTGACTGTCGTTAAGAGAAACAAAGAGATCACTGTCTTAATTTTT GCTAGAATTTCTAGTGATAACAAGTGAGAAATGAGAGACATTTTCCCCGT CTACA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00558.hp1 others(64): Show HG00099.hp1 HG00408.hp2 HG00558.hp1 HG00621.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01167.hp1 HG01169.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01934.hp2 HG01952.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02083.hp2 HG02293.hp1 HG02559.hp1 HG02602.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG03471.hp2 HG03710.hp2 HG04204.hp2 NA18942.hp1 NA18942.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18957.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19003.hp1 NA19006.hp1 NA19012.hp1 NA19043.hp1 NA19054.hp2 NA19056.hp2 NA19060.hp1 NA19063.hp1 NA19080.hp2 NA19085.hp2 NA19088.hp2 NA19240.hp1 NA20129.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0030 a0001c0001t0032 a0001c0001t0040 a0001c0001t0047 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0061 a0001c0001t0087 a0001c0001t0088 a0001c0001t0095 a0001c0002t0001 a0001c0002t0002 a0001c0002t0018 a0001c0002t0024 a0001c0002t0066 a0001c0003t0001 a0003c0010t0089	a0001c0001t0001g0001 a0001c0001t0001g0141 a0001c0001t0001g0154 others(63): Show a0001c0001t0001g0001 a0001c0001t0001g0141 a0001c0001t0001g0154 a0001c0001t0001g0165 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0291 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0250 a0001c0001t0003g0273 a0001c0001t0004g0251 a0001c0001t0005g0098 a0001c0001t0024g0228 a0001c0001t0025g0146 a0001c0001t0025g0147 a0001c0001t0027g0205 a0001c0001t0027g0206 a0001c0001t0030g0294 a0001c0001t0032g0210 a0001c0001t0032g0211 a0001c0001t0040g0003 a0001c0001t0047g0095 a0001c0001t0056g0274 a0001c0001t0057g0059 a0001c0001t0058g0268 a0001c0001t0061g0030 a0001c0001t0087g0212 a0001c0001t0088g0192 a0001c0001t0095g0233 a0001c0002t0001g0062 a0001c0002t0001g0074 a0001c0002t0001g0076 a0001c0002t0001g0096 a0001c0002t0001g0131 a0001c0002t0001g0166 a0001c0002t0002g0087 a0001c0002t0018g0083 a0001c0002t0024g0041 a0001c0002t0066g0082 a0001c0003t0001g0150 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0155 a0001c0003t0001g0240 a0003c0010t0089g0193	67	294	0.2279	-1804	c.574 others(18): Show c.574+9669_574+11472del		GLRA3	ENSG00000145451.13	transcript	ENST00000274093.8	protein_coding	5/9						chr4	TogoVar
GALNT15_chr3_16169680_16235165	16197901	GTCTGGAA others(1794): Show GTCTGGAAGTTCTTCCTTATCTATTCCGAAGCTCTCTTGCTAGAAGTCTG TCCTAAATAATACTAACAAGGGTTAGAGGTATAGCTGAAGAGACCAGCAG TCAGCCCAAGGAGGGCTTCATAAATTAATGTTTGGTGGGAATATCAGTGA AGGACTATATTTGGCTGCACAGAACAGAAACCTGCTGCAGTGACTTAACC AATGAATAGAGATTTATTTTTCCTTATAGTATAGAAAGCTCACAGGGTGG CAATGCAGTATTGGTGTGACAGCTCCACAATGCCATTGGACACCCACCTT CATCTGCTTTCCACTTCAACATGCTTAGAGAGTAGTTTTGGCCTCATAAT CACAACAGGGCTGCTCTACCTCTGGACATCACATACATATTTCAAATAGG GAAAAGGCGAAGAAGAGATAGGCAGAGGCCAGTCCGGTTTGTGCTCTTCG GAAAAAAAAAATTAGTAAAATAATAGTTTTCCCAGAATCCTTTCATTCAT TTTATTTCTACCAGAGCTGCTGCCAGCAGTGACAGGAAGTCTCGAGAGAT ACGTGTTTTTAGCTGTCCCGAGAAACATCAAAGTTCTGTCAGTACAGTGG AAGGGGAGAATGAATGGTGAGGAAGATGTTACATTTAGCAATGTTAAAGC CAATGAAGTCACTGAGGGGCTGCTTCTCAGATATGCAAGTCCAGAAATGT TAATAGCTTGACTAACAGAGATTCCTCTCTAGGGAGTGGACCAGGGCTGA CAGTCTTACCAGAAAAATAATTATAAAGTAACACATCAACGAAGCATTTT ACCAGTGAGAATTGCAACAGCCCAGTGACTGGGACTCCTTTCCTCTACTG CTCAGGACATTGTTCACCCTGCAGAAAATCCATGGTGCTTAGAAGACAGA TTCCCAGGGAAGGAGTGTATGAAGTCTGCTGGGGGCTCTCGGGTGGGGCT GCCTTAACCTTCTCCAGCCTCCCCAGAGATCCAGCTACCAAAGCAGCCAG GCTACTTGTATCCACAGTTAAGGCCACCTCTGGGCTGGGGAACTGGGGGG GAAATTCTTGCTTTTTGGCTCAGTTCTGTTCAATGCACATGTACTGAGTG CCTACTGTGGGCCAGGCCCTGCACTAAGGGTTAGAGCAGAAGAGATGCAT TAGGTACAACCCCTGTCCTTGGGGAGATCTTAGTCCACTGGCCTGGGGGG ACTCCCCATTTCCAAGACTTCATGGAGACCACTGCTTCTCTGTGAACACA TTGTTCCTTCCATCTCCACTGGCTTGTTCCTCTTGGTGTGTGTGTACACA GACATGCACACACACACACACATGCACTCACACACACAATCAAGTTATTC TTATCTTAAACACAAAACCTAACAAGCTTCTCTCATCCTTTCCGTCATCT TCTTAGGCCTCTTTTTCTCCCTTCCCCTATAGAATCAACCTTCCTAACCG TCTGGACTCTTGGTCTCAGTTTTTCATCTTCCGTTTTCTCTCCCGGACCC ACTGTGTTGCAGACTCCCCTATCAACTGCAATGAGATCTCTTTGACCAGC ACCACCAATCTCCTACCAGCTGCCAAATTTAATGGAGCCTTTTGCCTTTG ACTTCCTTGACCACTGTCTTAGGTCAGGTTTCCTGAAAGCAGGGCCTGAG ATGGAGATTCACGTGCATTTGATTTTTTTGAGGGTGTACTCTCAGGGGAA ATCTGTAGGGGAGTGAGTGATACAGAAGAGAGAGAGGGAAGAGCTGAACA AATATGTGGTTTCAGGTGAAGTCCAGCCATAGCCTGATCCCATGGGGGAC TC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp2 HG00639.hp1 others(101): Show HG00140.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02040.hp1 HG02056.hp2 HG02083.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03139.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18957.hp2 NA18961.hp1 NA18964.hp1 NA18967.hp2 NA18971.hp2 NA18972.hp2 NA18983.hp2 NA18984.hp2 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp2 NA19012.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19063.hp1 NA19064.hp1 NA19067.hp1 NA19068.hp2 NA19072.hp2 NA19079.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19091.hp1 NA20300.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0009 a0010 a0013	a0001c0001 a0001c0002 a0001c0021 others(13): Show a0001c0001 a0001c0002 a0001c0021 a0001c0026 a0002c0003 a0003c0004 a0003c0005 a0003c0009 a0003c0011 a0003c0012 a0004c0006 a0006c0020 a0006c0025 a0009c0024 a0010c0027 a0013c0029	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(31): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0041 a0001c0002t0003 a0001c0002t0005 a0001c0002t0013 a0001c0002t0018 a0001c0002t0031 a0001c0002t0032 a0001c0002t0034 a0001c0021t0001 a0001c0026t0020 a0002c0003t0004 a0002c0003t0043 a0003c0004t0002 a0003c0004t0006 a0003c0004t0045 a0003c0005t0028 a0003c0009t0001 a0003c0009t0002 a0003c0009t0006 a0003c0011t0006 a0003c0012t0003 a0003c0012t0033 a0004c0006t0003 a0004c0006t0005 a0004c0006t0022 a0006c0020t0006 a0006c0025t0006 a0009c0024t0003 a0010c0027t0006 a0013c0029t0005	a0001c0001t0002g0085 a0001c0001t0002g0110 a0001c0001t0004g0105 others(93): Show a0001c0001t0002g0085 a0001c0001t0002g0110 a0001c0001t0004g0105 a0001c0001t0006g0082 a0001c0001t0009g0084 a0001c0001t0041g0100 a0001c0002t0003g0002 a0001c0002t0003g0013 a0001c0002t0003g0056 a0001c0002t0003g0087 a0001c0002t0003g0089 a0001c0002t0003g0090 a0001c0002t0003g0093 a0001c0002t0003g0097 a0001c0002t0003g0101 a0001c0002t0003g0109 a0001c0002t0003g0111 a0001c0002t0003g0114 a0001c0002t0003g0115 a0001c0002t0003g0116 a0001c0002t0003g0147 a0001c0002t0005g0012 a0001c0002t0005g0063 a0001c0002t0005g0068 a0001c0002t0005g0069 a0001c0002t0005g0076 a0001c0002t0005g0077 a0001c0002t0005g0078 a0001c0002t0005g0080 a0001c0002t0005g0086 a0001c0002t0005g0107 a0001c0002t0005g0112 a0001c0002t0005g0113 a0001c0002t0005g0123 a0001c0002t0005g0139 a0001c0002t0005g0146 a0001c0002t0005g0149 a0001c0002t0005g0150 a0001c0002t0005g0151 a0001c0002t0005g0153 a0001c0002t0005g0213 a0001c0002t0013g0338 a0001c0002t0013g0339 a0001c0002t0013g0340 a0001c0002t0013g0342 a0001c0002t0018g0103 a0001c0002t0018g0104 a0001c0002t0031g0145 a0001c0002t0032g0067 a0001c0002t0034g0152 a0001c0021t0001g0044 a0001c0026t0020g0052 a0002c0003t0004g0035 a0002c0003t0004g0036 a0002c0003t0004g0095 a0002c0003t0004g0096 a0002c0003t0043g0124 a0003c0004t0002g0163 a0003c0004t0006g0014 a0003c0004t0006g0128 a0003c0004t0006g0154 a0003c0004t0006g0161 a0003c0004t0006g0162 a0003c0004t0006g0319 a0003c0004t0006g0320 a0003c0004t0006g0321 a0003c0004t0006g0322 a0003c0004t0045g0014 a0003c0005t0028g0039 a0003c0009t0001g0049 a0003c0009t0002g0041 a0003c0009t0006g0046 a0003c0009t0006g0047 a0003c0009t0006g0048 a0003c0011t0006g0040 a0003c0011t0006g0042 a0003c0011t0006g0043 a0003c0011t0006g0099 a0003c0012t0003g0066 a0003c0012t0003g0083 a0003c0012t0003g0120 a0003c0012t0033g0094 a0004c0006t0003g0055 a0004c0006t0003g0057 a0004c0006t0003g0074 a0004c0006t0003g0092 a0004c0006t0003g0102 a0004c0006t0003g0108 a0004c0006t0005g0079 a0004c0006t0022g0081 a0006c0020t0006g0051 a0006c0020t0006g0053 a0006c0025t0006g0050 a0009c0024t0003g0221 a0010c0027t0006g0045 a0013c0029t0005g0106	104	386	0.2694	-1801	c.706 others(16): Show c.706+1977_707-916del		GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
PTCHD4_chr6_47851673_48116197	48015039	ACTTCTTC others(1794): Show ACTTCTTCTTTTCCCCAAAAACCTCCTACAAAAGTTCTGAAATTCCTTTA AGTGTAAATCACCTTTATGTCCCAATAAAGACAAGTCTTAAAGTAAGAAT ATGACAAGATGCTAACATGCTGTTTTCAATGCTCTCCTATGTGAGTGCTT CATTGAACTGAACTGACATCATTAAGAGTAGATGACTTTGGTTCCTAGCT CATATCCCTGTGTACACTGTTGTTCTTCAATCTATTCTCCACATGGAAGC CAGAGTCTATTTGTACAATTTAAATGAGACAACATCATCCCTACACCTAA AACCCTCCCCTGGTTTCCACTTGCAATAGGAATACAACAGATGCCTCTTG CCAGGCTTCAAAGGCCCTGCTTAGCCCATTTCTAGAGGAGTCCTCAGACC TGTCTCCTATCACCCTTCTCATGAACTCTGCTCCAACTATTTTTTTTAAC CTTTCTTCCTATTCCTTGAAGAAACCAAGTTAATTTCCACCTTATGATCA TTGCATCAGCTGTTCCCTCTGCCTGAAATGCTTTCTTCTGCCAAGACTAC TTCCTGGTCACCGAGGACTTAGCTTCAAAGAAATATTTGACCCACAAGAC CTAAACCAGCCTTCCTTGCAATCATTCTATTGCATAGACCTTTTATCTTC TTCCTACAAATGATTTCTATTTGAAATGATCTTATTTTATCATTTAATTG CTCCTTTTTGTGTCCTCTGCTAGAGTGTGTGCTTGTTGAAAGCTGACATC TTTCCTGTTTTGTTCACTGATAATTTCCTTGTGCCTAGAAAAAGCCTGAT GTGTAATAAACATTCCATAATATTTATTAGCTGAGTAAATTCACCTTAAG ATATATATAACTAATTATAGGTTACTTTTTAGAGACTAGTTTGCTAAGAC CAGGACAAGTAGGAGACAGATCAAGGTGCCTGAGAACAGTAGGAACTCAA ATGAAAAGAGGCATATGTAGAAATTTGAGGCTGATACAGAAAAGAAACAA CAACATCTCTTTCTCAGTCTGCTTATTCTAGTATAATATTTCCCCCAAAT ATGTTTCTTTTTCATTTTTGCTGCACACCAAGCATGTGCAGGAAGCTAGT CAACAGACAGGGGGACTTAGGGAGTGCCAGAAAAAAGAATTTGCATGTAT CATGGCCCGCAGGCAAAAGCCAGCGTAAGATGCTCAGGGACCTGAAGGGA GTAATAGGATTTGAGGCTACAGAAGGCAGCAGGGCCTCTTCAGTAAAGGC CATGAAAGCCTTATTAAGGAGTTGGACTTAATTATCCTTCAATACAAATC CATTGATGAGTTTTAAGCAAGCGAATGACATGATTTACTTTCAAAAGTTC TCACTCTCATTGCACTGTGGAAAATGATTTAGGAAGTAAAGGTGATTCTA AAGGAAAGAGCTCAGTTAGGAAGTCCCTGTAGTATTTCAGGTTCTTGATG CAGCATAAGAAAATGTCAGCTGAGGCAGTTTCTAGTAGGTAAATTGTTCC AAGGTGAATCATTGGAATTACAGGTCATGATGCTATCTCACGGCCATAAA TCATCTCATCACATTATCTCTCCAGCAGCAGTAATGCTGAAGAGAAAAAA AAAATCTTGGGTTCGAAAGCTCTTATTTAGTTTCAGGTTACTGTTCTGTA GCTTTAAAAATTACTCCCACTCAATGCAGAGCTTTCAATAGCTCTAGAGT AGAAAACTAAACTCTCAGAGAGAAGATTAAAAAAAATTAAAGTGATAAGA GAGGATGGAGACATTAATGTCACAGACAATAGTGCAGAGAAAAAAATTAC TT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02647.hp2 HG01891.hp1 HG02109.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0112 a0001c0001t0119 a0001c0001t0029 a0001c0001t0112 a0001c0001t0119	a0001c0001t0029g0088 a0001c0001t0112g0148 a0001c0001t0119g0095 a0001c0001t0029g0088 a0001c0001t0112g0148 a0001c0001t0119g0095	3	180	0.0167	-1801	c.418 others(17): Show c.418-7726_418-5926del		PTCHD4	ENSG00000244694.8	transcript	ENST00000339488.9	protein_coding	3/4						chr6	TogoVar
FCF1_chr14_74708144_74743620	74741820	AAAAAAAA others(1793): Show AAAAAAAAAAAAAGTAAGATGGTGGGAATAAGACTAGACATGCAGTAGTC ATGATGAATGTGACTGGGTTAAATAGCCTCATTAAAAGACAGATGCTCAG ATTTGATTTTTTTTTTTTTAATCTTGTGGCTGTGTGTTATTTACAGACAT AGCTAGAACAGAATGGCACAGGACAGCTGGAAATAAAGGGAAAAATAAAT TTACCATACAACTCAACAATTCCACTCCTAGGTATCTACCCAAGAGAAGG AAAATACATGTCCATACAAAGACTTGGATACAAATGCTCATATTTTTTTT AAATTTCTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCAGGCTGGAGTG CAGTGGTGCGTTCTCGGCTCACTGCAGCCTCTGCCTCCCAGGCTCAAGTG ATTCTCCTGCTTCAGCCTCCTGAGAGCTGGGATTACAGGCACGTGCCACC ACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGT TAGCCAGGATGGTCTCGATCTCCGGACCTCGTGATCCACCTGCCTCGGCC TCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCACCCAGCTGCTCAT ATTATTTTTCTTCATAATAAAAAGTGGAAACAAACCAAGCAACCATAAAC ACAGTGGTCCCCAACGTTTTTGGCACCAGGGACTGTGGAAGACAGTTTTT CCACAGATGGCAGTGGGGCATGATTTCTGGATGATTCAAGCACATCACAT TTATTGTGCACTTTATTATTATTACATTGTAATATATAATGAAATAATTA TACAACTCACCATAATGTAGAATCAGTGGGAGCCCTGAGTTTGTTTTCCT GTAACTAGACAGTCCCATCTGGGGTTGATGGGAGACAGGGACAGATCATC AGGCATTAGCTTCTCATAAGGAGCACACAACCTAGATCCCTTACATGTGC AGTTCACATTAAGGTTCATACTCCTATGAGACTCTAACACCGCTGCTGAT CTGACAGGAGCTCAGGCGGTAATGTGAGTGATGGGTAGTGGCCGTAAATA CAGATGAAGCTTCACTTACCTGCCCGCCATTCATCTCCTGCTGTGTGGTC CAGTTCCTAACAGGCCATGGGCCACTAGTGATTCATGGCCCATGGGTTGG GCACCCCTGCATAACCAGATAAATGGATAAACAAAATGTGGTTCATTCAC ACAGTGGAATACTGTTCAGCAATGAAAGGTATAAACCACTGATAGAACAA CATACATGAATCACAAAATCAAGTGAAGCAAAAGAAGCCAGATACAAAAT ATACAGATGGTGCCTGACTTAGGATGGTTTGACTTAGGATTTTTGACTTT ACAATGGGTTTACTAGGGTATTACATGCATTTTCAGCTTACAATATTTCA ATTTACACAAGATTTATTGGGGCTGGGCATGGTGGGTTCATGCCTGTAAT CTGGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTATGCCCAGGAGTTT GAGACTAGCCTGGGCAACATAGGGAGACCCCATCTCTATAAAAAATAAAA TAAAAAGAAGGTTTATTGGGATGTAGCTCCAACATAAGTCAAGAAGCATC TACACACTGTATGATTCCATTTACATGAAACTCTAGAAAAGACAAATCTA ATCTATAATGATAAAAAGTAAATCGTTATGGTATTAGGGGTGTCCATGAA AAAAAAGAAAAAGAAAAGAAGAAAGTAAACATTGTTCACCTGAGGTTGGA GGTAGGGTATTGGCTGGATACAGGCACAATGGAATTAGTGGGGAGGGGAA T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	362	0.0028	-1800	c.68 others(11): Show c.6891_*8690del		FCF1	ENSG00000119616.11	transcript	ENST00000341162.8	protein_coding					3201		chr14	TogoVar
PARD3B_chr2_204540475_205625162	204652731	TTTATGAG others(1793): Show TTTATGAGCAAAAGAGGTTTAATTGACTCACAGTTCTGCAGGCTTAACAA GGAAGCATGAATGGGAGGACTCAGGGAACTTACAACCATGGTGGAAGGTG ACAGGGATGCAAGCACATATTACCATTGTGGATCATGAGAGAGTACAAGT GAAAGGGGAAGTGCTACACAGTTTCGAACAACCAGATCTCCTGAGAACTC ACTCACTATCATGACAATAGCAGGGGAAGTCTGCCCCCATTATTCAATCA CCTCCCACCAGGCCCCTCTCCCGACACATGGGGATTACAATTCAAGATGA GATTTGGATGGGGACACAGAGCCAAACCATATCAAAAACTCATGGACACA AAAAACTCATGGACACAACAGACACTGGGATCTTCTTGAAGGTGGAGGTT GGGAGGAAGGAGAGGATCAGAAAGAATAACTATTGAGTACTAGGATTAGT ACCTGGGTGATGAAATAATCTGTAAATGAAACCCCAATGACACCAATTTA CCTACATAACAAACGTACACCTGTACCCCTGAACCTAAAATAAAAGTTAA AATTAAAAAAAAAAAAACCTAGCTATTATGGAAAAAAGAAAGTCATTGTA ACCCCTTCTGTTAGATATACTTTTAAAACGTTAAAGTAACTTTTCACTTG TAAATACAATGTGTTTTTGATAAACACCTGTCAGAGCACTGTGTTGCTAT ATGTGGCATCCAGACTCTTAGCATAACCTCTCATGATCTATGGCAGCTTT AGGTCAGTCTTAAAAAAAATGTTGAAAGGGCCAGGCACAGTGGCTCATGC CTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTC AGGAGTTTGAGACCAGCCTGACCAACAAGGTGAAACCCCATCTCTACTAA AAATACAAAAATTAGCCAGGCATGGTAGCGGGCGCCTGTAGTCCCAGCTA CTAGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTG CAGTGAGCCAAGATCATGCCACTCCAGTCTGGGTGATGGAGCAAGACTCT GTCTCAAAAAAAAAAAAAAAAAAAAGAAGTTGAAATATTCATTCAGCATT CAAGGGGACCTGATGTCTGAGATTAGTTTAACCTAATGAAGCACTGGTCC TTAAATTTGGGAGGAAAGTTTGAGAGTCTGATGACAACGTACACTATTTC CCCAGATACAAATGTACATTTATGAACATGCATATACATAAATAATTTTG CATGCAATCATATGAGAGTCTCCAGTTTAAAAACTTCTGCAATAAAAATT CCTCTTGTGTGTCTTCATTGGCTACTGCATCTTCACGTCTTATTGTGTGG TCCTCTTTATCTGTGTCTCAGCAAGGAGGTGATGTGAGGATAATCTTGCA AAATGTAGAGTCTTAGAAAGGTGAGCTTTTGCCTGAGACCCCACTTCTTG GTTAACTTATGGTGAGTGTGCCTGTGTTCATCTAATACCTTTCATATAAG GAAGGCAAGATGATTTATCCAGGCTGAGGGGGGAAACGAAGAAAGGATCG TGACAACCTAATGCAGGTTCTTGAATAAAAGGGGTTAGTTTCTAATTTTG ATGTGGAACCATAAACATGAGGATTTATTCCTAGTATCATGGGTGAATAG TTGCTTCTATTCCCGTGTATTCCTCACTGAGCTTTCTTGAGTATCATCAC AGATAACTCTGTTACCTGGTAATGAAGAACTCTGCTGGGGAAGTAAATGG AATGTGGTGATGTTGGGTTTTTCTGCCATTTTAGCTGATTTGAGGAGATA G	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03130.hp2 NA18522.hp2 others(1): Show HG01884.hp2 HG03130.hp2 NA18522.hp2 NA19030.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0003 a0003c0005 a0004c0011 others(1): Show a0001c0003 a0003c0005 a0004c0011 a0004c0012	a0001c0003t0016 a0003c0005t0005 a0004c0011t0003 others(1): Show a0001c0003t0016 a0003c0005t0005 a0004c0011t0003 a0004c0012t0003	a0001c0003t0016g0046 a0003c0005t0005g0045 a0004c0011t0003g0043 others(1): Show a0001c0003t0016g0046 a0003c0005t0005g0045 a0004c0011t0003g0043 a0004c0012t0003g0048	4	54	0.0741	-1800	c.121 others(19): Show c.121-33448_121-31649del		PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
VTA1_chr6_142142263_142229685	142227886	GTAGTATT others(1792): Show GTAGTATTCCATGGTGTATATGTACTACACTTTCTTGATCCAGTCTATCA TTGATGGGCATTTGAGTTGATTCCATGTCTTTGCTATTGTGAATAGTGCT GCAGTGAACATATGCATCCATGTATCTTTATAATAGAATGATTTATATTA CTTTGGATATATACCCAGTAATGGGATTCCTGGGTCAAATGGTATTTCTG CTTCTAGATCTTTGAGGAAACACCATACTGTCTTCCACAATGGTTGAACT AATTTACACTCCCACCAACAGTGTAGAAGTGTTCCTTTTCCTCCACAACC TTATCAGAATCTGTTGTTTGTTGACTTTATAATGATTGCCATACTGACTG GCATGAGATGGTATCTGATTGTGGCTTTGCTTTGCATTTTTCTAATGATC AGTGGTGTTGAGCTTTTTTCGTATGTTTCTTGGCCACATGTATGTCTTAT TTTGAGAAGTGTCCTGTTCATGTCTTTTGCCCACTTTTAAATGAGGTTGT CTGGTTTTTCTTGTAAATCTGTTTAAGTTCCTTGTAAACTCTGGATGTTA GACCTTTGTCAGATAGATAGATTGCAAAAATTTTACCCTATTCTGTAGGT TGTCTGTTCACTCTTTTACTGTGCAGAAGGTCCTTAGTTTAATTAGATAC CATTTGTCAATTTTTGCTTTTGCTGCAATTGCTTTTGGTGTTTTTGTCAT GAAATCTTTGCCTGCACCTATGCCCCGAATGGTATTGCCTGGGTTTTCTT CTAGGGCTTTTATAATTCTGGGATTTACATTTAAGTCTTTAATCCATCTT GAGTTGATTTTTGTATATGGTGTAAGAAAGGGGTCCAGTTTCAATTTTCT GCATATGACTAGCCAGCACTTCCAGCACCATTTAGTAAATAGGGAATCCT CTCCCCATTGCTTGTTTTTGTCAACTTTATTGAAGATCAGATGGTTGTAG GAGTGCAGTCTTATTTCTGAGTTCTCTATCCTGTTCCATTGGTCTCTGTG TCTGTTCTTGTACCATTACCATGCTGCTTTGGTTACTGTAGCCTTATAGT ATAGTTTGAAGTCATGTACTATGATGCCTCCAGCTTTGTTCTTTTTGTTT AGGATTGTCTTCGCTATACAGACTCTTTTTTGCTTCCATATAAATTTTAA AAAAGATTTTCTAATTCTGTGAAGAATGTCAATGGCAGCTCAATGAGAAT ACTCAATGAGAATAGTATTGAATCTATAAATTACTTTGGGCAGTATGGCC ATTTTCACCATATTGATTCTTCCTATGCATAAGCATAAAATATTGCTCCA TTTGTTTTTGTCCTCGCTGAATTCTTTGAGAAGTGGTTTGTAGTGCACCC TAAAGAGGTTCTTTATGTCCCTTGTTGGCTGTACTCCTAGGTATTTTATT CTTTTTGTGGCAATTGTGAATGGGAATTCATTCATGATTTGGTCTCTGCT TGCCTGTTGTTGGTGTATAGGAATGCTACTAATTTTTGCACATTGATTTT TTTTATTATACCTTAAGTTCTAAGGTACATGTGCACAACATGCAGGTTTG TTACATAGGTATACATGTGCCATGTTGGTTTGCTGCACCCATCAACTCGT CATTTCCATTAGGTATTTCTCCCAGTGCTATCCCTCCCCCTGCCCCCACG CTCCAACAGGCCCCGGTGTGTGATGTTCCCTGCCCTGTGTCCGTGTGTTC TTGTTGTTCAACTCTCACCTATGAGTCAGAACATATGGTGTTTGGTTTTC TGTCCTTGTGATAGTTGGCTTAGAATGGATGCTTTCTAGCTTTATCCATG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	332	0.0030	-1799	c.92 others(12): Show c.9244_*11042del		VTA1	ENSG00000009844.16	transcript	ENST00000367630.9	protein_coding					3202		chr6	TogoVar
ACAP3_chr1_1287391_1312930	1288239	CCGTGTCT others(1790): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGC TCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTC CGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCC GAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTC CGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGT CCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCC CGTCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTG TCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0073 a0001c0001t0009g0073	1	293	0.0034	-1797	c.35 others(11): Show c.3528_*5324del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					4151		chr1	TogoVar
ADGRE3_chr19_14614117_14679844	14621517	CTAAAACT others(1790): Show CTAAAACTCCTGGACTTGAGTAAAACCATGGCAATATTGCCCTAAAGCTA CCTAACTGTGACTATGGAAATTGCTACTTTGCATTCAGTGTTGTGGGATT TGCACGGGCAGTACTCATTTTCCCTCATACTTCGGATTGACCACAGTTGT TACGGCACTCTTATAAATAGGATTTTCACCCGTGTCCCATTTGGCATTCA TTTTCTCCTTTTCAAATTTAGCAAACTCCCTTCTGTCATGAATTATCATT AAAAGCTTCCATATCAGCAGTAATGCAAGGCCAATAAGAACAATTCCAGC AACCACACCAGCTACAATTGGAATGATGTCTGGACCAGTGGGACACTCTG GATTCTCCACAACATGAACCATGACCTCGTTGTTCCCATTCACTGAATAC GTAAAATAGAACCAACAGTCGTCAACATCCTTCTCCTTACAATGGGACAC AGGATCAGGTTGGACCGGCTGGGGTAATTTGTCCCGACTTTCTACCTTGG TAATGTTAAAATAGGAACATTCCTGTGTGCATGTGTCTTTCTTTTCTCCT TTATTGAAGGCTCTGCACTGAACACATTCTTTATGCTCAGCACAGACACC AAGGCAGGTCTGACACATCTCACACGTTTGCCCTTGAAACTTCGGATCTG TACACTTACAGACACCACACTCGCAGATGCCCCGGCCATTGCAGATCTGT CCGTTGCTGGCTTCACAAGTACTAGTATAATTTTTAAAATGTTTTATTAT TTTGAAAATAATGTTGTAATTCATGCCAGGGACTGACAAAAGACTTGAGA CAGGATGGTTATTCTTGTCAGCTAAGGTCACATTGTGCCTTTTTGACCTT TTCTTCCTGGACTATTGAAATCAAGCTTATTGGATTAAGTGATATTTCTA TAGCGATTGAAAGGGCAATAGTTAAAGTAATGAGCATGATGAGAGTTTCT GTTAATCATGTATTAAAACTGATTTTTAGCTTTACAAATATGTCAGTTTG CAGTTATGCAGAATCCAAAGTAAATGTCCTGCTAGCTAGTTAAGGATTGT TTTAAATCTGTTATTTTGCTATTTGCCTGTTAGACATGACTGATGACATA TCTGAAAGACAAGTATGTTGAGAGTTGCTGGTGTAAAATACGTTTGAAAT AGTTGATCTACAAAGGCCATGGGAAAAATTCAGAGAGTTAGGAAGGAAAA ACCAATAGCTTTAAAACCTGTGTGCCATTTTAAGAGTTACTTAATGTTTG GTAACTTTTATGCCTTCACTTTACAAATTCAAGCCTTAGATAAAAGAACC GAGCAATTTTTTGCTAAAAAGTCCTTGATTTAGCACTATTTACATACAGG CCATACTTTACAAAGTATTTGCTGAATGGGGACCTTTTGAGTTGAATTTA TTTTATTATTTTTATTTTGTTTAATGTCTGGTGCTTTCTGTCACCTCTTC TAATCTTTTAATGTATTTGTTTGCAATTTTGGGGTAAGACTTTTTTTATG AGTACTTTTTCTTTGAAGTTTTAGCGGTCAATTTGCCTTTTTAATGAACA TGTGAAGTTATACTGTGGCTATGCAACAGCTCTCACCTACGCGAGTCTTA CTTTGAGTTAGTGCCATAACAGACCACTGTATGTTTACTTCTCACCATTT GAGTTGCCCATCTTGTTTCACACTAGTCACATTCTTGTTTTAAGTGCCTT TAGTTTTAACAGTTCACTTTTTACAGTGCTATTTACTGAAGTTATTTATT AAATATGCCTAAAATACTTAAAAAAAAAAAAATAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(181): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02145.hp1 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp2 NA18954.hp1 NA18957.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18999.hp1 NA19004.hp2 NA19010.hp2 NA19043.hp1 NA19060.hp1 NA19063.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0016 a0017 a0018 a0019 a0020 a0021	a0001c0001 a0001c0006 a0002c0003 others(18): Show a0001c0001 a0001c0006 a0002c0003 a0002c0005 a0002c0023 a0002c0030 a0003c0002 a0003c0026 a0004c0004 a0005c0007 a0007c0010 a0007c0012 a0008c0009 a0009c0014 a0010c0015 a0016c0028 a0017c0031 a0018c0020 a0019c0029 a0020c0022 a0021c0021	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0006t0002 a0002c0003t0001 a0002c0005t0001 a0002c0005t0002 a0002c0023t0003 a0002c0030t0001 a0003c0002t0001 a0003c0002t0002 a0003c0026t0001 a0004c0004t0001 a0005c0007t0001 a0007c0010t0001 a0007c0010t0002 a0007c0012t0001 a0008c0009t0001 a0009c0014t0002 a0010c0015t0001 a0016c0028t0002 a0017c0031t0001 a0018c0020t0002 a0019c0029t0001 a0020c0022t0001 a0021c0021t0001	a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0023 others(181): Show a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0051 a0001c0001t0001g0063 a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0372 a0001c0001t0002g0009 a0001c0001t0002g0069 a0001c0001t0002g0079 a0001c0001t0002g0101 a0001c0001t0002g0112 a0001c0001t0002g0199 a0001c0006t0001g0031 a0001c0006t0001g0032 a0001c0006t0001g0052 a0001c0006t0001g0053 a0001c0006t0001g0059 a0001c0006t0001g0061 a0001c0006t0001g0065 a0001c0006t0001g0068 a0001c0006t0001g0147 a0001c0006t0001g0149 a0001c0006t0001g0294 a0001c0006t0001g0301 a0001c0006t0002g0057 a0001c0006t0002g0060 a0001c0006t0002g0067 a0002c0003t0001g0028 a0002c0003t0001g0206 a0002c0003t0001g0287 a0002c0003t0001g0288 a0002c0003t0001g0297 a0002c0003t0001g0303 a0002c0003t0001g0304 a0002c0003t0001g0306 a0002c0003t0001g0307 a0002c0003t0001g0320 a0002c0003t0001g0321 a0002c0003t0001g0322 a0002c0003t0001g0323 a0002c0003t0001g0324 a0002c0003t0001g0330 a0002c0003t0001g0331 a0002c0003t0001g0334 a0002c0003t0001g0335 a0002c0003t0001g0337 a0002c0003t0001g0338 a0002c0003t0001g0342 a0002c0003t0001g0343 a0002c0003t0001g0344 a0002c0003t0001g0345 a0002c0003t0001g0355 a0002c0003t0001g0356 a0002c0003t0001g0357 a0002c0003t0001g0358 a0002c0003t0001g0359 a0002c0003t0001g0368 a0002c0003t0001g0369 a0002c0005t0001g0037 a0002c0005t0001g0171 a0002c0005t0001g0172 a0002c0005t0001g0173 a0002c0005t0001g0175 a0002c0005t0001g0176 a0002c0005t0001g0177 a0002c0005t0001g0178 a0002c0005t0001g0180 a0002c0005t0001g0181 a0002c0005t0001g0182 a0002c0005t0001g0183 a0002c0005t0001g0184 a0002c0005t0001g0185 a0002c0005t0001g0187 a0002c0005t0001g0190 a0002c0005t0001g0195 a0002c0005t0002g0034 a0002c0005t0002g0035 a0002c0005t0002g0036 a0002c0005t0002g0192 a0002c0005t0002g0194 a0002c0023t0003g0346 a0002c0030t0001g0284 a0003c0002t0001g0040 a0003c0002t0001g0209 a0003c0002t0001g0218 a0003c0002t0001g0229 a0003c0002t0001g0230 a0003c0002t0001g0235 a0003c0002t0001g0236 a0003c0002t0001g0242 a0003c0002t0001g0247 a0003c0002t0001g0248 a0003c0002t0001g0249 a0003c0002t0001g0250 a0003c0002t0001g0252 a0003c0002t0001g0253 a0003c0002t0001g0256 a0003c0002t0001g0257 a0003c0002t0001g0258 a0003c0002t0001g0260 a0003c0002t0001g0261 a0003c0002t0001g0263 a0003c0002t0001g0264 a0003c0002t0001g0265 a0003c0002t0001g0266 a0003c0002t0001g0268 a0003c0002t0001g0271 a0003c0002t0001g0272 a0003c0002t0001g0275 a0003c0002t0001g0276 a0003c0002t0001g0278 a0003c0002t0001g0281 a0003c0002t0001g0282 a0003c0002t0001g0283 a0003c0002t0001g0314 a0003c0002t0001g0371 a0003c0002t0002g0255 a0003c0002t0002g0259 a0003c0026t0001g0267 a0004c0004t0001g0041 a0004c0004t0001g0043 a0004c0004t0001g0044 a0004c0004t0001g0046 a0004c0004t0001g0048 a0004c0004t0001g0197 a0004c0004t0001g0200 a0004c0004t0001g0203 a0004c0004t0001g0204 a0004c0004t0001g0205 a0004c0004t0001g0207 a0004c0004t0001g0208 a0004c0004t0001g0213 a0004c0004t0001g0316 a0004c0004t0001g0326 a0005c0007t0001g0039 a0005c0007t0001g0217 a0005c0007t0001g0298 a0007c0010t0001g0228 a0007c0010t0002g0226 a0007c0012t0001g0299 a0007c0012t0001g0300 a0008c0009t0001g0220 a0008c0009t0001g0221 a0008c0009t0001g0222 a0008c0009t0001g0223 a0008c0009t0001g0224 a0009c0014t0002g0277 a0009c0014t0002g0280 a0010c0015t0001g0234 a0010c0015t0001g0239 a0016c0028t0002g0016 a0017c0031t0001g0332 a0018c0020t0002g0286 a0019c0029t0001g0017 a0020c0022t0001g0341 a0021c0021t0001g0038	184	370	0.4973	-1797	c.192 others(19): Show c.1920+2178_1921-2047del		ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding	15/15						chr19	TogoVar
RIMOC1_chr5_41899344_41926636	41901817	GAGCCAGA others(1790): Show GAGCCAGAAGAAATGTAGCAGAGTCTGGAGAGATTGAGCAAAGATGGCAA GGAAGAAGTTATGGGGGTAAGGGTGATTTTATTATGTTTCAATATTTTAC AGTTCACTTAAACTTTGAACTAAATAAAATGCATTAACAAACATGAAGTT TCTACATTTGACCACGACATTAACTAGGGAAAGAGAACATAAAGGAAAAC AAGAAAAAGACTTTGAAGTATTGGAAACACACTCCACTAAAATGTTTTTA TTTTTTATTTTTATTTATTTATGTTTTGGGACAGAGTCTCTCTCTGTAAC CCAGACAGGAGTGCAGTGGTGCGATCTCGGTTCACTGAAATGGCCACCTC CTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGCAGCTGTCACTGC AGTCATGTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGAA GGGGTTTCACTATGTTGGCCAGGCTGGTTTTGAACCCCTGACCTCAGGTG ATCTGCCTGCCTACATCTCCCAAAGTGCTGGGATTACAGGCATGAGCCAT TATACCTGGCCTAAAATGTTTTCAATAGCCACATTTATGGAGAGGGAACA GATAAAGCTGTGGTTGTAATAAAAGGGCCTTTTGAATATTTGACTCTAAA TGTTTATTTTAAAAAGGAACCCTTGATTCAAATGGCGATCCAAGATCACT TCGAAATCATGAGCAAGATCTCCCAGACCCAAATCTCATGGCTAGAAAAT GGATGACCTGATTACATAGATCCTAAGATGTCTTTTATAAAAGCCTGAGA AGAACAGTGGACCTGAGAGTAAAACACTTCTGCAGAGATAATTTGTAGAT CCACAGTCAAAATATTTCAGCTGTGCCTTTGTCTGTTGCCCACATGTCCA GGTAATTCTTTTAAGTAGTTTAAGAATGGTAAATTACACATTTTCTAGGA GACTGAAAATTCCTAATCAAAGGTTAATTATTTTTTGAAAATTATTTTTT GAAAAGTTTAGTAAAATCTTCTGAAGGCTTCATTTAGTTCTACATCTTGT AGAAGATTCAGAAGGCATCAGGTGTAACCTTCTGCTCTTTTCTCTATCCA TTGCTGGCTCCCTACTTTCATTTTGAATTTATCCCTATTTCCCTATTTTT CCCCCTTTGTGTACAGATACGATCATTCTCCACCCTACCTTCCAGCACTT GCCCCTCTTCAACTACCACCTTCTCCATCCCTTGTTGAGAAAGCCTTCTC TCAACTTCTTGTTTATACTTAGATTCTTTTTTTCCTCACCTACAATTCCC ACACTATTGAATAATTGTCTACTCCCACAGACCACATCATATCCCCTTGC CATCTTGCTTGTTGACAAGAGTGCATATGTGCCAGGCACTGTATGAGGCA CCAAGGACACAAAATACATGATTCCTGTCCTCTATATTTAGGGTGAATTG TCAGAAGAAACTGGTATTACAAAGGTCAGTTAGAGAGTCATTGTGGTCAA TCACTTATAAATCACAATACACTTTTTCTCTATTTTTAGTATTTTTCTAT TACATATAAAAAACTACCTTCCATGAGAAACAATAGGATGGAGATTATTC AAGATATAGTGTGTCAAACTGAGAAATGAATACACAGAGTTAACGATTTG TTTGACCAGAGGCAAGAAAGCATTCACAGAATGCAAAGTGAAGTTAGACT TGCTGACTGAGTGCTTTGAAACTCCCGATTGAGAGGATGAACCTCATGCA CAATTAGCGCCTTAAGGGAAGGTCTTGAGATGAAAGAAAAATGAAAAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG02486.hp1 others(10): Show HG01891.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02647.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp2 HG03453.hp1 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 others(2): Show a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0021	a0001c0001t0010g0018 a0001c0001t0010g0049 a0001c0001t0012g0029 others(5): Show a0001c0001t0010g0018 a0001c0001t0010g0049 a0001c0001t0012g0029 a0001c0001t0012g0079 a0001c0001t0013g0030 a0001c0001t0013g0081 a0001c0001t0014g0080 a0001c0001t0021g0031	13	316	0.0411	-1797	c.-25 others(10): Show c.-2550_-754del		RIMOC1	ENSG00000205765.10	transcript	ENST00000381647.7	protein_coding					2526		chr5	TogoVar
DIP2B_chr12_50499985_50753657	50579927	CTCCACTT others(1788): Show CTCCACTTCTGACTGGCAGTCTTGGCACAGGCACTGGACAAATGCTGGAA ATAACCATGGGCACAAAGGAGAAGACCAGTTCTTAGCTTAACCTAGACCT TGTGGGGCAAAAACAACAGGGAAGGGCCAACCTTGCTAACTTTGTTGGCT TGCTTGTGTGTACATTCAGAAATTGGTCATATCACGTGGACTTGAATCCA CAGTGAGACATTAATTGTGAGTCAAGTACTTTCCTTCTGAAGAAGTCTTT AGGGCTCCAGGACAGGAGAGACTCTTAGGCTAAAAAGGGCCCTCCAGAGG TCTCAGCACTACACACTGTTGCCCCAAACCTTCTGAGTTATATCACAGTC ATTTCATTCTGATTCATTCTAATTATCTCCAGGTAAAGGGCTCCAGTTTC CTGGCTTTAATAAGCCTTTGGAGTTAAGAGATTTTTCCTTATGAGTACTC CAGATGCCCTCTTTTATAATTTAAGCTAATTTCCTTTAATTTTATTTTTT AAAATAAAAATAGCCAAGAATGGTGCTCCTTATGCTTTTTCTTTATATTT TGCAGAAATTTTATTATCTATATTTTTACTCCAGTCTACTTTATCCTTTC TTTTCTTTTTCCTTTTTTTTTTTTTTTGAGACTGTGTCTCACTCTGTTGC CCAGACTAGAGTGTAGTGGCGTGATCTCGGCTCACTGCAACTTTCTTCTA TTTTTAACCCAGTTCCTTCAGTTCAGTTGTTCTGAACTGAGGCAATTTTG CACCCCTCAACCGTCAGGGTACATTTGGCAAGGTCTAGAGACATTTTTGG TTGTCAGAGCTCTGGGTTGGGGGATGAAATTGCTACTGGCATTTAATGGG TAGAGGTCAGCAGAATTACTAATTGTTTTGTTACAGCAATACTTTCACAC ACTTTATGTTCAAATGATGGAAATATCCTACAGTGCACACAGCACCCTCC ATCAACAAAGAATTATCTAGCCCAAAATGTCAACAATGCCAGCCTTGAAG GACCGACCCGGCTTTAGTCCTTCCTTGTAATTTGGTAGCTCTTTCTTAAT GTTTTTTGCTGCATTATGAATTCAGTTTTACTTTGTATATTAACTAGAAT TGTGGTTTTATTTTGGAGAAACTATTTTGTGTTCGGAATAACTAAATACA TTTTAGAGGTCGCTCACTCTTTGGAATTCTGACTTACATTTGTGCTATAG GTCATGCCACATCATTACTTTCTGCATGTGAATGAGCACAACTACTTGAT GACTTTCAAAAACACAGATTTCTGGCCCAATTGAGACTTTAAAAGAACTC TTCTGGAAATGCCTGTAATTAGCCAGATTTGGGAATCATTGAAACAGGAA TTTATTCATAAGCTAAAAAATAGGCAGGCTTTTAAGACCGCTACTGCATA AAGAAAATGTCCTTTGTGGCTCTCAGAAATAATATCCACCCTCCTGGGCA ACCAGTTCTGTCAGTAAAACCAGTCAGGTAACCATCAGGTTGGAGGCGCC CAATAGGAGTGTGATTCTTTCCGGCTGTATGCTGTACAGTTGACCTTGTT TGCCACAAATTAGGTTTCCAAAGAGGGAGAGTAAAAAGAAATGTGGAAGG GGGTAGAGGAGATTGCTAGTAGAATAAAATACTATTTACCATATACCCTA GGAGGGGCCTTACTCAGTGCTGATTTCTCCTCCATAGCGTCTACTTGCTA CCCACATTCACCACAGTGGTAGGTGACCTTAAACACTACTTGTGGTGTAC GTTATCGTGCCCAAGACAGTGGAGTCACCGGGCAGCACAAGGGATA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00544.hp1 others(58): Show HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG01261.hp1 HG01358.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02129.hp2 HG02148.hp1 HG02293.hp1 HG02486.hp1 HG02523.hp2 HG02976.hp1 HG03139.hp2 HG03195.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp2 NA18612.hp2 NA18747.hp1 NA18942.hp1 NA18946.hp2 NA18947.hp1 NA18952.hp2 NA18953.hp2 NA18969.hp1 NA18971.hp1 NA18979.hp1 NA18980.hp1 NA18990.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19070.hp1 NA19079.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0011 a0001c0001 a0001c0003 a0001c0011	a0001c0001t0001 a0001c0003t0002 a0001c0003t0033 others(3): Show a0001c0001t0001 a0001c0003t0002 a0001c0003t0033 a0001c0003t0034 a0001c0011t0002 a0001c0011t0032	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0034 others(58): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0001g0059 a0001c0003t0002g0012 a0001c0003t0002g0013 a0001c0003t0002g0014 a0001c0003t0002g0015 a0001c0003t0002g0016 a0001c0003t0002g0017 a0001c0003t0002g0018 a0001c0003t0002g0019 a0001c0003t0002g0020 a0001c0003t0002g0021 a0001c0003t0002g0022 a0001c0003t0002g0023 a0001c0003t0002g0026 a0001c0003t0002g0028 a0001c0003t0002g0029 a0001c0003t0002g0030 a0001c0003t0002g0031 a0001c0003t0002g0032 a0001c0003t0002g0033 a0001c0003t0002g0036 a0001c0003t0002g0039 a0001c0003t0002g0040 a0001c0003t0002g0041 a0001c0003t0002g0042 a0001c0003t0002g0043 a0001c0003t0002g0044 a0001c0003t0002g0045 a0001c0003t0002g0047 a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0051 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0055 a0001c0003t0002g0056 a0001c0003t0002g0057 a0001c0003t0002g0058 a0001c0003t0002g0061 a0001c0003t0002g0062 a0001c0003t0002g0063 a0001c0003t0002g0064 a0001c0003t0002g0065 a0001c0003t0002g0066 a0001c0003t0002g0067 a0001c0003t0002g0068 a0001c0003t0002g0069 a0001c0003t0002g0070 a0001c0003t0002g0071 a0001c0003t0002g0072 a0001c0003t0002g0073 a0001c0003t0002g0074 a0001c0003t0033g0060 a0001c0003t0034g0048 a0001c0011t0002g0038 a0001c0011t0032g0037	61	282	0.2163	-1795	c.101 others(19): Show c.101-46042_101-44248del		DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37					INFO_REALIGN_3_PRIME	chr12	TogoVar
FBXO16_chr8_28423412_28495229	28453201	AAAGTAGT others(1788): Show AAAGTAGTAAGTTGGAGGGCCAGAATTTGAATACAGGACTGTCTTGCTTC AAGCCCACACATAAGACCTCCCTATCCTACTCTTGTACTCTGCCATTGTC TAGTTTGTCACAACTGCAGCTAATTTATTCATAAAAAGTACACATTCCCC CAAAAAAGTACTCCAGCTCTCATGACTTCTAACACATAGAAACAACTTTG AGTTGCAGAGAGGTAGACTAGAAATTTTATCAATTATCAAAACCTCAACC ACTCCCAAAGAATACTTTGCTTTAATCTCCAAAACTGAAAGCCTGTCTTG TGTGTGTGAAATTCATAACGTTTTTATGTGGTTGTAGCCTAAGGAAAGTA CTACTGGTATGTTGAGAAGCCATTAAGGGCTTAATTTTTGTTAATTAAGA GATTAGGGAAGCTTTGCTTGGTAAATCAGTTTGCTTCCATTGCTGGTGAA AATCAAGAAATTCCCCAGTTCCCCCAAGCATAATCAGTTAGTTTCTCACC CTTGTTTCAACAGCTCTTTGTATACAATTCTATTACAGGATAACGCTTAG TACTCAGTGTTGTAATTATTTGTTTATTTGTCTACGTCCTGGGCTACTAG ACTAGGCTCTGTGAAAGCAGGGTTGGGATCTTTCTATGTTTAGCAATTAG CTCACAACAGTGTTTAATAAATATTTATTCAGGCCAGGCGTGGTGGCTCA CGCCTATAATCCCAGCACTTTGGGAGGCCGAGGAGGGTGGATCACATGAG GTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTAC GGAAAATACAAAAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTCCGGAGGCAGA GGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGA GTGAAATTTATTTATTCAATGAATGACTGTAACCTAGAAGCAGATTAAGA AGACATTTCATATTTACATAATTGATAGCTCATTATTGGTTTAGTATTCA GTATTTTGTGCAAGTCTCATTTAGAATGGACATTCATTTCATTTCCCTGA GCTTCTATTGAATTAAATCTGTTGTTGCTGGAAGAGGTCTAGTTTAATAC TGCTGGGAATAAATAACATATGATAATAAAAAATAACTTCAGGGGGAAAT TTTAGGCATAAATGCTAGTAGTTATATGTAAAAAATCATTAATTCTGGCC GGGCGCGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG GGCGGATCACGAGGTCAGAAGATCGAGACCATCCTGGCTAACATGGTGAA ACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGC GCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGAAGGAGAATGGCGTGAGC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGC CTGGGCGACAGAGCAAGACTCCGTCTTAAAAAAAAAAAAAAAAAAAAAAA AGGATCATTAATTCTATATAGTACAAAATGCTTACACTTTAACAAAATAG GTAATAGTGAAATCTGTGATAACTTATTTGTATTAAGTAAACAAAATTTT TGTTCACATCACCTGAAGTCTTTTTGAGAATTTTCCTAATCATGAATAGA TGTTGAATTTTGTTAAATGCTTTTGTTTGGATATATTGAAGTGATCATAT ATCTTTTCTCTCTTTAAAAAAAATATGGAATGCTTCATGAATTTGC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03225.hp1 HG03516.hp2 others(3): Show HG02258.hp1 HG03225.hp1 HG03516.hp2 NA18944.hp2 NA19030.hp2 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0029 a0002c0002t0001g0066 a0002c0002t0001g0386 others(3): Show a0002c0002t0001g0029 a0002c0002t0001g0066 a0002c0002t0001g0386 a0002c0002t0003g0021 a0002c0002t0003g0022 a0002c0002t0003g0030	6	392	0.0153	-1795	c.507 others(16): Show c.507+1770_508-726del		FBXO16	ENSG00000214050.8	transcript	ENST00000380254.7	protein_coding	5/8						chr8	TogoVar
WDR76_chr15_43822002_43873412	43844859	GGGAGCTT others(1788): Show GGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCTGTGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGATCA AAGTTTAGTTTTCTTTTTTTGGAGAGGGAGTCTTGCTCTGTCGCCCAGGC TGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAAGCTCCGCCTCTCAGGT TCACGCCATTCTCTTGCCTCAACCTCCCGAGTAGCTGGGACTACAGGCGC CTGCCACCATGCCTGGCTAATTTTTTCTATTTTTAGTAGAGGTGGGGTTT CCCCATGGTCTTGATCTCCTGACCTCGTGATCTGCCTGCCTTGGCCTCCC AAAGTGCTGGGATTACAGGCATGAGCCACGGCGCCCAGCCCGAAGTTTAG TTTTCTAGTTGTGTTTAAAATATGGTCTGCTATGGTCTGAATGTTTTTGT CTTCCCCAAAATTCATATGTTGAAATACTAATCCCTATGGTATTAGGAGG TAGGACCTTTGGGAGGTGATTAGGTCATGAATAAGATTAGTGCCCTTATA AAAGAAACCCAGGAGAGACCACTGTCCCTTCTACCATATGAGGACACAGC TAGAAGGCACCAACTATGAACCAGAAAGTAGGCCCTTACCAGACACTGAA TGAACTGGAAGCTTGATCTTGGTCTTCCTAGTCACCAGGACTGTGAGAAA TAAAATGCTGCTGTTGATAAGCCACTCAGTTTATGGTATGTTGTTTTAGC ATCCCAAATGGACTAAGAAACAGTTTCTAAGCTGTATCAAAATATCTTCC CAGGGACCTGCTTTGGAATGATTTTAGTTATCTTTGATGAGTCAGAAATA GATACTGAATTCCATTCATTGTGCATATAATTCTGCATGAAATACTGTCT GTTATTACAAAATTGAGAAAAGTCAAGTTAATGTTCTCTGAATTTATTTT CTTATTGGGGAAGAAGACCAAAGACATGAAAAATGCCATAAGGACAATTA ATGAAGGTGAAGAAATAGTGGTGACTTGAAGTTGGTTGGGGTTTATAAAC AAAATTTGCAAGTTTGAAGACAGAAACCAAGTTCTTATTTTGGGATCATA GATTCTCCCTTATTTTGATAAGATGTGAGTGGGGATAGGAGGTGATAGGA TTTAGCAAAGAAAACTGAAGCAAAAAAGTGGGAAGAAGATCAGAATAGTA TGTTTTGGAAGCCAAGAGATGAGTTTCAAGGATGGGAGGTTGACAGAGCC TTTTGCAGAGAAGTTAAAAGAATGGAGAAAAGGCCATTGATTTTGAAAAT AGGGTACCATGTAGTGAGTTGAGAGAATAGCTTTGACAATGAGGTAAGTA AGGAACAAAGGCTTTAGGAGATTAAGGAAGTATGGGGGTAATGAAAGAAC TGGAGAAGCATTGGATAGAGACTTTTTTTTTTTTTTCCCGCCCCTGAGAT ACGGTCCCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCATAGCT CACTGCAGCCTCAACTTCCCACGGTCAAGCAATTCTCCACCTCAGCTTCC TGCGTAGCTGGGACTACGGTCATGTGCCACCACACCTGGCTAATTTTTTA ACTTTTTGTAGAGATGGGTCTCACTATGTTGCCTAGGCTCATCTCAAACT CCTGAGCTCAAGCACTCCACCTGCTTCAGCCTCCCAAAGTGCTGGGATTA CAGGTGTGAGCCACCACACCCATCTGAGACTACTTTTTGAAGAATTTTGC AAAGGAAAAATTGAAAATTAGCATGATTAAATGAAGGTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG01515.hp1 others(1): Show HG00099.hp1 HG00642.hp2 HG01515.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0087 a0001c0001t0001g0110 a0001c0001t0001g0118 others(1): Show a0001c0001t0001g0087 a0001c0001t0001g0110 a0001c0001t0001g0118 a0001c0001t0006g0190	4	304	0.0132	-1795	c.103 others(18): Show c.1032+809_1032+2603del		WDR76	ENSG00000092470.12	transcript	ENST00000263795.11	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr15	TogoVar
PLA2G2C_chr1_20158055_20191518	20172257	GGCCACGC others(1787): Show GGCCACGCCCCATGTGAAGGGCACTTGATCCACTTGCCCACATGGCTCCT TGAATGGTCTCAGTAACATGTGAGTCCCCCTTCCCTTCCCACCTATTTGC TTTTGTGGCCCTGGCAGCACCTATCTTAGTGCTTGGCATGCAGTCGCCCT TAATAAATATTTGTCCAACTGGAAGACAGCTGAGCCGTTTTGTTAACAAA ATCACAGAAACAAGGAAACATGTTCTCAACAGCAGCAGTTGTCAAGGGAA GCTTCAAGATTAGCTCAAGTGAACAAGTATTTACTGAGCATGTACTATCT GCCAGGCTCTGGGCCCCCAGAGAGTTCAGGAGGTACACTCATGGGTGGGA GAGACCAGGGCAGGATGAGCACGGACACTCTGAGAAGCTCTGGAGCATCA GGAGAAAGCTCAGGAATATCTCCTTCCAAGCACTTGGAAGCATTTCATTT TCTAAAAGATCTCTGGGTCAAAGAGGAGGTGAACGTTAAGGAAAGGCCCA GGTTAAAAGACATTTCCATACAGAAAAGGCTACTCACAAACCACTGCGCC ATTGACGATGTGGAACTGGTAGCTGTTCAACACAGGCTGGCAGCTGAACT CCTTCAGCTTCTCGTAGGGAGAGGGAGATGAGGGGCTGTGCCTGGAAGTG GGTCCCTCAGGAATCTGCTGGAGGACCTTATCTGGGGACTAGAAAGGGCT CACCTGCCTCCTCCTCTAGGCAAGAAGGCATTGAAGGTGAGGAGGTGAAT TATCAATAATATTAAACATAGGCCAGGTGTGGTGGCTCATGCCTGCAATC CCAGCACTTTGTGAGGATAAGGCAGGAGGATCGCTTCAGTCCAGGAGTTT GAGACCAGCCTGGGCAACATAGGGAGACCGCCTATGTTTTTTAAGTTTAA AAAAAAAAAAAAAGCCAGGCATGGTGGCACCAGCCTGTGGTCCCAGCTAC TCAGGAGGCTGAAGTGGGTGGATTGCTTGAGCTCAGGTGACGGAGGCTGC AGTGAGCTCTGATTGAGCCTCTCCACCCCAGCCTGGATAATAGAGCAAGA CCCCGTCTCCCAAAAAATAAATAAAATAAAAAATAATAATAATAACCAGT AGCATTTCCTGAGCCCTCTCTAGTATCTGTTGCTATCTCATTAGCTACTC ATAGAAACCTATAAAGTACAATCATTGCTGCCCTTTTGTAGGGGAGGGAC TGAGATTCCAAGAGGCCAATTTCCCAAACTTAGGCAGCTGGAGAATGATA GACCCAGGACACAAACCTAGGCCCATTCATTCATTTAACACTTTTTACTG AGCACCTACTGTGAGTCAGGCACTGTAACGGTCTCTGAGGAGACAACTGT CTGTAAAAGCCGACGTAGTCCCATTCATGGCACCCAGAGTTGGCTGGGGG CTGGATGGGAGAGCACTGGAGGAGAAATACCATCTGGAGCATGGGCTCAG TCCATGTCCTCAACCACTACACAAGGGACAGGAAGGCAGAAACTTAAGCT TGGATTCTAAGGCCTGAAAGGCCAAGAAAAATGTTTCAGTCTCCCTCTCT CACCATTCCCATCTGCAAGTGGGGGCTCTGCTGTTGATCAGCTTTGGCTA ATGATGTTCAATTTCTAATCAGCCTTTGGACTTTGACAGGGGAGGCACAG ACCATCAAGGAGAGGGGACAAACTTTGAAATAGGCAAATTCTCGTTCAAT CCTAACTCTGCCACTTAGAAGCTGCATTGCCTTTAGGAGGTGGTTTAGCA ACTCACTGTCCTCACCTGTCAAATGGGCTGGTATCACTGTCTCGT	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG03139.hp2 NA21309.hp1 HG03139.hp2 NA21309.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0216 a0004c0004t0001g0263 a0004c0004t0001g0216 a0004c0004t0001g0263	2	406	0.0049	-1794	c.179 others(15): Show c.179+956_283+536del		PLA2G2C	ENSG00000187980.7	transcript	ENST00000679259.1	protein_coding	4/5						chr1	TogoVar
MYBL2_chr20_43662114_43721482	43689043	GGCCTCCC others(1786): Show GGCCTCCCGAAGTGCTGAGATTACAGGTGTGAGCCACCGCACCTGGCCCT AAGCTGGATATTGTTCCCCTGTTTTCCATCTTATGAAAACTTGTAAAAAA TCTCTTACTAGTGGCTGTCTTCTACCTGTTTCTCTTTGTCCTTGTGAATT TTTGCCTTGCTTTATTTTGAATCCCTTTTTTTGTCATGGCAGTGTGGTCC TGGCAGGGAGAGAAAATGCCAGATGGTGTGTTTTCCCCAAAGTCTGAAAT GATCCCTTTTCAAAGCTCAAACCTGAATGTGTCATCTTTCTGGGGCTTCC CCTGACACTTGGGTTGGAAACTCTGGCTTCTTTCCCCCCATGGCCTGTTT GGCTCACAGGTGCCACCAGCCTCACCTTGATCCACTGTCACTTGTGCTTA CTCGGTGTTAGCTGCTTTGCCTCCTTTCAGTCCCTCGAACCCTGAGCTCT TCTCAGAGCTCCTAGTGCTCCTCTGTCGGCCTGCAGTGCACTCCCGCTTG TGCCTATTGTGTAGCTAATGTGTTCTCATCCTTCAGTTCTCAGTGGGGGT GCTATTTCTTCAGAGAAGTTTTCTCTGTTCTCCCAGACTGTGGTTGGTCT CTGGTGACCTCTGTGTTGTGCCCACACCTGTCTGCAGAGTAGTGTGTACC CCAGTTGTAGCTGAAGATAACATTCATCTCCCCTGCTAGATTTAACTGTC AATGGCAGCCACTTGTCTTATTTACCAGATGGATCCCCAGTGCCTACAAT AATGCCTGGCACACAGTGGGTGCTTTTTATATGCGAGCAAAAGAAGGAGT CTCACTATAGCTTGGGGCACCCCAGACTCTGGTCTTGGGGAGTGGGAGGG CTGGGGAGGTGTTTTGGGTCAGGTTCCCTGGAAGCGGAACCTGTGACTCA AGAGTTTCAGGTACATGGGATCTCTTGGAAAGGTTCTCACCTGTGAGGGA AGGAGTGGAGAAAAGAAGGGAAGGGGCCAAGCAAGGGATGGGGTCTTGGA AAATAGAGCTTTGGCCTGCTATAAGGCCAAGGAGTGTGTGTGTTCACATG TATGCATGCGAGGTATGTACATATGAGGAGGGCGCATGTGTACATGGGTT GGGGAACTCCTGGGGCATCTTCGGTTGTGCCTTCCAAGAGCTGTTTTTTG TTTTTTTTTTTTTGTTTGTTTTTTGTTTTTTGAGACGGAGTCTTGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGTGACCTCAGCTCACTGCAACCTCCG CGTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGA TTACAGGTATGCACCACCACGCCTGGCTAATTTTTGTATTTTTGGTAGAG ACGGGATTTCACCATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTTAGG TGATCTGCTTCCAAGGGCTCTTATGCAGATAAAGTCATAGTAGAAGCCGT CGGCAGCATGCCCGGCAGCTGGGGGATTGGATTCGCTGTAGGGACAGAGG ATCTGGGCAAAGCACCAGGAGCACCCCTTACCCTACACCTTTGCCCAGTG AGCATTGTGTCCCTGAAGGCTTAGAGTGCAAATGATCCGAGGATATTCTC TTAGACTGGGTGCTCAGTTAAGCTGTTACTCTCTGTTCACTTTTCAAGGA AAGAGTATTCTGCTTGGCACTCCAAAGAAGGTGGTGACTACTATGTGTCA GCACAGTACCTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCC AGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCA	G G	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	272	0.0037	-1793	c.500 others(17): Show c.500+1979_501-1314del		MYBL2	ENSG00000101057.16	transcript	ENST00000217026.5	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr20	TogoVar
VWC2L_chr2_214406054_214583976	214512658	ATGACCAA others(1785): Show ATGACCAAATGTAAAAGAGTAGGTGGATGAATTTCAACACCCAAGAATTT CAAACCTAAGAGCTGTCAAAAGTAACAGTTTCCCCATACAACAGTGGTAG ACTACAGGAAGAATGCATAAGTGGATATAACTGGAATGGAATCATTTATG ACTTTATGTATCCAGGTTGGGATGATGAATTATAGCTAGAAGTAAAATGA TCACATAAACTACAGTATCTAAGTAAAATACGTGCTAAGAAGGTCCTCCT GAAACATCACTGGTTTTTCAAGGCTGGCTCCTTACAGAATCCACTGAAAC TCTGGTGATTTTCTAGGTTGAATGTTTATAGCATCTACTAGAGTGATAGT CCAACTATGATGAGTAGATAAAGGCTGCACAGCCCTGTTGAAAAAGGAAA GCTGCATCTTGGTCATCAGGCTCAGTTAAGTAAAAGATTATCGCACAGCT ACAAATGAGGGAAACCTTAGAACCAGCCTAGCACTGATGGTAACATTTTA GAAATGAATGTCATTTTGGTCAGACAAGTGATTACTGTCGGGTCAAAGAG ACCCAGGAATGTCTCCTCAATCATTTCATGCACTAGACCTTTCCCCTGAC CTTCAAAGCAGGGCTTCCTTCATCTTGAAATTCAATCAATTGGCCCTCCC AATCAGAAACATCCAACAAAATCATGCAAGCCAGGCAAATAGTTTTGTGA GCTGATTATTGAATGACGTCCAGAATGCCAAAATCATAGTCCTGGGCAAT GTTTCTGAAGATGTAAAAAGTATGATTCATTTTACCATTAGGCTGTTATC AGAAAGATTCTCATTTGACATTTAATCTTCAGGGACGAATTCCATGCAAA CATTCGTAACGTGGCAGAGAAGATTTTCACTATTGCTGTTCCTTAGAACT GTGACATGAATGGAAGTGAGTCCAACATGATATGTGGCCATATCTGTTAT TCATTCATTCACTCATTCATTCAGCTATTCAATATATAATTTTGGAGGAC CTATTTAGTGCCAATCAAAGCTTGCTACAGATGGTTCTATCGAGCCATCT CTCCTTCATAGAATAAATGATCCTCAAGTTGGGAAACACAAGTTATAAAA CAGAACCCTCTATACAAGGCAAGAGTGTCCTCTTAGCACCCCTCACAAGT GCTCAGTCTCTAGTTCAAATCTTCCGGAAAGCTCTAAAGACAAATTCTCA GGTGTATGAAGTCTTCCCTTCAATATGACCAGTAGCAGCCATATTGCCCT CTGCCAGTGGCATGGCATCCTCAGTTCAGTCAACAAGTTGAAAGGACATC AGCTGCTAGAAGTGGTCTTTGGAGATGACAGCAGGATGTTGATGGAGCAA GTATCTTTGGCTTGGGGTTTTATTTATAATGAGAACTGATTGATGGTTCA GCCCATATACACACACTCATGCAAACGACTTCATCTTTACAGCACTAAAT GTAATGCCATGTTAATTTGGATAAGCAGTTGTTAAGGTTCATATCAAAGG TTTTTTTTTTTTCTGTAATCATTTACTTAACGTTTTAATTTTTCCCTGTG TAGTCTCCCAACTAAAATCATCTAACAGTAATCTCTGTGTTAATACCAGA CATAGACAGAAAGCATCTGTATTATGTCAAGTGTAAAAGAAACAGAAAAG CAGCAATTTCTGATCTTTAGGTAACACTTTTTTTCGTTCTTAACATAATT TTATGTAACAGTGGAATATGATATTATAATATCAGGGCAAATTTTTGCAA GCCTATTTGAAATCTCCCTTTCCATTCATTTTAGTCTCTGTCT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	280	0.0036	-1792	c.521 others(19): Show c.521-63013_521-61222del		VWC2L	ENSG00000174453.10	transcript	ENST00000312504.10	protein_coding	3/3						chr2	TogoVar
CCDC127_chr5_191868_223153	211523	GGATGGGG others(1783): Show GGATGGGGCAGACGGGACAGCAGTGTGAGCACACTGATGCTCGACATCGC ACACTGCAGCCACGACGAGACAGCACCACACACCCATCAGGATGGGGCAG ACGGGACAGCAGTGTGAGCACACTGATGCTCGACATCGCACACTGCAGCC ACGACGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCA GTGTGAGCACGCTGATGCTCGACATCGCACACTGCAGCCACGATGAGACA GCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAATGTGAGCACG CTGAGATGCTCGACATCGCACACTGCAGCCACGACGAGACAGCACCACAC ACCCATCAGGATGGGGCAGACGGGACAGCAGTGTGAGCACACTGATGCTC GACATCGCACACTGCAGCCACGACGAGACAGCACCACACACCCATCAGGA TGGGGCAGACGGGACAGCAGTGTGAGCACACTGATGCTCGACATCGCACA CTGCAGCCACGACGAGACAGCACCACACACCCATCAGGATGGGGCAGACG GGACAGCAATGTGAGCACGCTGATGCTCGACATCGCACACTGCAGCCACG ATGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAGTG TGAGCACGCTGATGCTCGACATCACACACTGCAGCCACGATGAGACAGCA CCACACACCCATCACGATGGGGCAGACGGGACAGCAGTGTGAGCACGCTG ATGCTCGACATCGAATACTGCAGCCACGATGAGACAGCACCACACACCCA TCACGATGGGGCAGACGGGACAGCAATGTGAGCACGCTGATGCTCGACAT CGCACACTGCAGCCATGACGAGACAGCACCACACACCCATCATGATGGGG CAGACTGGACAGCAATGTGAGCACGCTGAGATGCTCGACATTGCACACTG CAGCCACGATGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGA CAGCAATGTGAGCACGCTGAGATGCTCGACATTGCACACTGCAGCCACGA CGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAGTGT GAGCACGCTGATGCTTGACATCGCACACTGCAGCCACGATGAGACAGCAC CACACACCCATCAGGATGGGGCAGACGGGACAGCAGTGTGAGCACGCTGA TGCTCGACATCGCACACTGCAGCCACGATGAGACAGCACCACACACCCAT CAGGATGGGGCAGACGGGACAGCAATGTGAGCATGCTGAGATGCTCGACA TTGCACACTGCAGCCACGATGAGACAGCACCACACACCCATCAGGATGGG GCAGACGGGACAGCAATGTGAGCACGCTGAGATGCTCGACATTGCACACT GCAGCCACGACGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGG ACAGCAGTGTGAGCACGCTGATGCTTGACATCGCACACTGCAGCCACGAT GAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAGTGTG AGCACGCTGATGCTCGACATCGCACACTGCAGCCACGATGAGACAGCACC ACACACCCATCACGATGGGGCAGACGGGACAGCAGTGTGAGCACACTGAT GCTCGACATCGAATACTGCAGCCACGACGAGACAGCACCACACACCCATC AGGATGGGGCAGACGGGACAGCAGTGTGAGCACACTGATGCTCGACATCG CACACTGCAGCCACGACGAGACAGCACCACACACCCATCAC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00738.hp1 others(14): Show HG00280.hp2 HG00323.hp1 HG00738.hp1 HG00741.hp2 HG01081.hp1 HG01109.hp1 HG01175.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01517.hp2 HG01928.hp2 HG02004.hp1 HG02683.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0035 a0001c0001t0164 others(8): Show a0001c0001t0006 a0001c0001t0035 a0001c0001t0164 a0001c0001t0165 a0001c0001t0166 a0001c0001t0167 a0001c0001t0168 a0001c0001t0169 a0001c0001t0170 a0001c0001t0171 a0001c0001t0172	a0001c0001t0006g0006 a0001c0001t0035g0016 a0001c0001t0164g0049 others(8): Show a0001c0001t0006g0006 a0001c0001t0035g0016 a0001c0001t0164g0049 a0001c0001t0165g0052 a0001c0001t0166g0050 a0001c0001t0167g0053 a0001c0001t0168g0051 a0001c0001t0169g0048 a0001c0001t0170g0054 a0001c0001t0171g0055 a0001c0001t0172g0056	17	404	0.0421	-1790	c.121 others(17): Show c.121+3416_121+5205del		CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2						chr5	TogoVar
ZNF727_chr7_64040434_64090339	64056804	TCTAGGGC others(1783): Show TCTAGGGCCACCTAAACTTACAGTCTTTAACCACACTGTTTATCAGGATT CCCTTCTTTAGCTCCTTTTTTCCTTATCTTGCCTGGTGCAAACCACAGTT TTGCTCTGCTTTTCTGTTGTATGTGTTTGTATAAAGACATCTGCCTTTGT GTAAATTCTAACCAATTATAGCTATGACATTTTCCTCAAAACATGTAAAT TCTGTGAGTTCTTTTTTATTTGAAATCTCCTATATCTTTACCATATTATG AGCACTCATTTGAAGTAATAAGCATTTAAAAAATACTAGATAAGAAATGT TGAAACAGCCCCCAAAGAATTATTTATAACAAATATTAAACTACAGTTTG TTGAGCATGAAACACTTATGATTACATTTCAATAGGTTCAGTGCTCTCTA AGTATGTTTTTACAATGTATTTTTTAATTAACCTTAGGCAGTATACTGTT TTAAAAAGTAAAACAAAAATCTATTCACAATGGCAAAGACATGGAATTAA CCCAAATGCCTTTCAACAGTGGACTGGATAAAGAAAATGTGGTACATATG TACCATGGAATACCATGCAGCCGTAAGAAGGAAAAGGATCATGTTCTTGA CAAGGACATGGATGGAGCTGGAAGCTGCTATTCTCAGCAAACTAACACAG GAAGAGAAAACCAAACACTGCATGCTCTCATACTAATAAGTCGAAGCTGA ATGATGAGTTACATGGACACCTTGGGGGAACAACACACCCTGGGGCCTGT CAGGGGGCGGGGAGAGCATCAGGAAGAACAGCGAATGGGTGCTGGGCTTA ATACCTGGGTGATGGGTTGATCTATGCAGCAAACTACCATGACATACATT TACCTATGTAACAAACCTGCCCATCCTGCATATGTGACCCAGGACTTCAA ATAAAAGTTGATTTTTTTAAAAAAGTAAAAAAAAAAAATACCTAAAAGCA GGGGTATTTGTGGTACAAAAATTCATAGTAAACACATACCCACAAACTAT TTGAAAACATCATAATCTGATCTCTTAATGCAGTTATATTCTCCTTTATT ACTTAATAAAGTATAGATTCATGGCATAATTGTCAAAGGCTTCCATCTAT TCCTACCACATATCCATTGTTGCTGATTTTGTTCATTTTCTTTTTTTGTT TTTGATTTGTTAATTTTCCAACAAAGCTGGGATAAAAGCATCTTCATGCT CATGCTATAATAACTTCTCACAATATGCCCTGGGTTACTCAAAAGAAAAT GGAGTTGTTTTGCTCATGTTTTTGACACTTGGGTCAATCATCAACAAGTA ACAGAAGCCAAGGACATGTGCGTGCCTGTGAGTTACTCAGCATGTGTCAG GCAGGCCCTGGGCTGAAGGGAGACTCCAGGTGTCTCAGAAAAGGGAGGTT CTGCTCTAGTGCACACAGACTGTCACACTGTAAATTGTTCTGTGATGCCA TGTTTCTCCCAAGGTCAACAGGAACTGAGGACACATAGGAAGTGAGTTAT GAGGTCAGACTCCTTCTCCCATTTAGCTACCAGTATGTGATTCTGCCCAC CTGGACACATGCACACTATATAATAATTTGCTCACAACCCTCTTAGGACT AATCTCCATGCTCACAAATTGCATCTACATTTTCTTTGCTCCTAGAGTTT TCAGCCAAATACAAGGGCCTAGAGGACTTTAGACTTATCCCTGTCCCCAG ACCCTAAACCTGGTGCATCCACTCAACTGGGCTTCTGAGTCACCTGATCA TAGTCTCTTCTACCTGCATAGACACAGAAATAAGCCAGAGC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0039 a0003c0003t0039	a0003c0003t0039g0293 a0003c0003t0039g0293	1	406	0.0025	-1790	c.3+1 others(15): Show c.3+11184_4-10294del		ZNF727	ENSG00000214652.6	transcript	ENST00000456806.3	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
SH3D19_chr4_151115281_151330605	151240192	TCCAGGAG others(1781): Show TCCAGGAGTTTGAGACCAGCTTGGGTAAGATGGCGAGATCTGGTCTTTAC AAAAAATAAAAATTAAAATATTAGCCAGGAACAGTGGCACGAGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCCCTTAAACCCAGGAAT TCAAGGCTGCAGTGAGCTATGATTGCACTACTGCACTCCAGCCTGAGCGA CAAAGCAAGAACATGTCTCTTAAAAAAAAAAAAAGTCAAGGGAAGTTCTC TTCACTACGTGTTTCATAAGCAGAAGGTACTGCACATGAGGCTTAATTTC TCAGTCTCACCATTGACCAGATGTCACCAAAGCATGAGCAATATAATTTG TATATATTTAATTTTAAGAAGTTACTAAGAATACACAATAAGATACCACT TCACACCCACTAGGATGGGTATAATGAAAAAGACAGATTAATATTAATAA CAAATGTTGGCAAAGATGTTGAGAAATCAGAATCCTCATACGCTGCTGGT AGGAATGTAAAATGGTACAGTTGCTTTGGAAAACAGTCCAGCAATTATCA GAAGGTTAAACATGGAATTATTATACGACTCAGAAATTCTACTCAGGTTT ATATCAAAGAGAAATACAAACATGTCTACACAAAATCCTGTACACAAATA TTCATAGTAGCATTATTTGTAATAGCCAAAAAGTGAAACAACTCCAAAAT CCATCAACCGGTGATGGATAAAATGTGGTACAGCCATACAATGGAATGTA ATTTAGCAAGAAAAAGGAACGAAGTACTGGTCCATGCCACACATGATAAC TCTTGAAAACATTAAGTAAAAGAAGCCAGCCAGGTGTAATCCCAACACTT TGGGAGGCTGAAGTGGGAGGATTGCCTTAGCCCAGGAGTTTGAGACCAGC CTGGGTAAGGTGGTGAAACGTGATCTCTACAAAAAAAAAAAAATTAAAAA ACTAGCCAGCCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGGATTCCTTGAGCCCAGGAATTCAAGGCAGCAGTGAGCTA TGATTGTGCCACTGCACTCCAGCCTGGGTTACAAAGCGAGGCCCTATCTT TATAAATAAATACGTAAATAAATAAGTAAGCAAGCAAGCTAGTCACAAGA GACCACATGTCACATAATTTCATTTATATGAAATGTCTAGAATAAATAGG TCTATTTATAAAGACAGAAAGTATTATAAATTAGTGGTTGTCTAGAGTTG AAGGAGTGAAGGCTAAAACGTTCGGGTTTCTTTATGGATTATGAAAATGT TCTAAAATTGATTATAGTGATGACTGCACAACTCTGTGAATACACTAAAA ACCACTTTATTTATTTATTTATTTATCTAATTTATTTATTTAAGACAGGG ACTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCGCCC AACTTGGCCTCCCAAAGTGTTAGGATTACAGGTGCAAGCCACTGTGCCCA GCTAAATTGTACACTTTAAATGGGTGAACTCTATGGTATATGAATTATAT CTAATAAAGCTGTTACCAAAAAAAGAATAACCCTGATTAAATGAGTGAAT GGTTGAGCTGTTCATTTTAATACTTATAGAAGTATAAGACTATATGAATG AGAACTCTTAAGTATGTTTTCAATGGATACAATTTGGTATGATATTAAAA ATTTTAAAGTTCATATTTTGGCCAGTGTCCGTGGCTCATGCCTGTAATCC CAGCATTTTGGGAGGCTGCGGTGTGAGGATTGCTTGAAC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 NA19030.hp2 HG02896.hp2 HG02897.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0216 a0001c0002t0001g0237 a0001c0002t0001g0240 a0001c0002t0001g0216 a0001c0002t0001g0237 a0001c0002t0001g0240	3	280	0.0107	-1788	c.113 others(19): Show c.113-15894_113-14107del		SH3D19	ENSG00000109686.20	transcript	ENST00000604030.7	protein_coding	1/19						chr4	TogoVar
RAB38_chr11_88108251_88180443	88144770	GAGTAGGA others(1779): Show GAGTAGGACTGGGATAGGGGAGCAAGAGCTGGAAGCACTGGAGGTTCTTT CTGTGAGTTTGACTTTTGTCCCCACTATTGCATAGGTACAACTTGCTCCA TTCTTTCCCACCTACACTAGTGTTTGTGGTGGTGTATTTCTGAGCATAGC CACACCTGATCCACTCCATTATGTGAGCAGAATGGAGCAGGCTGGAAAGA GCTAAGGTACAGAAACAGACCTTTTCACCAGAGTATGGCTGTTGTGTGCA TCACGGCTAGATCGGCGTATGGGCTGTGGGTAGAGACAGTAGGAATGGTG TAGAGTGTGCAAAGTGTGTGTCTACATGTGGTGGGATCAGATATTATGCA TCTGGCCCCACATACATTATTTATCTCTCTTTTTTTTTTTGTGGGTAGGG ATGGAGTTTTGCTCAAGTCGCCCAGGCTGGTGAGCAATGGCGCGATCTCA GGTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTACCTCAGC CTCCCAAGTAGCTGGGATTAACAGGTGCCTGCTGCCAGCCTGCTAATGTT TGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCG AACTCCTGACTTCGTGATCCACTTGCCTCGGCCTCCCAAAGTGCTGAGAT TACAGCCGTGAGCCACCGCGCCCAGCCACATTATCTCTTAATGTTCACAG TAGCTCTAGAAGGTGAGTGGGTGTGATTTTACAGAGTGAATTCAAAAACA GCAACTGATGGAGATTCAGGCAATGGGCACCAAGAATGTACCAGGTAATT TGTTCAGCAGGTAGCAGAACCCAGTCAGCCTCTCAAATGGGCCCTGAAGA TATACTAACAAGAGAAGGGCAGGGTCTTTATCCTAAAGAAACAGATCTGC CAAAGCAGATTATAAAAATGGGATATGGGCACAGGAATACTAAAATATCC ATTATTAGAGCTAAGGTATGATGTAGAGAGTAAAATAAGTTGAGCTCATG ATCTACAGGGTGACCATGTAAATTTAAATTACAAATTAAAAATGAAGGTA TTATTAATAATTATGCTGGAACAGCAGGTATAAACCAGGAATTTGGGGGG CAAAATGGGACACATGATTACCCCAATTATACATCACCTAGAGAATCCAC AGACAGAATTCAAGGAAATACAGCCAAGAAAGCAAAAGAATGCAAAGGTT AAAAACCAAAGAATATGACGCAGAAAAGACTATTTTCTTTCCTTTGGTTT TAATATTGGAAGAGATAATGTGAAAAACCAGAGACACCAACATGTATTTA ATTTTTATTTTTTCTCTCTTAATTCACTTGCCAGCCAGGGGCTACCATGA TTGCTCCAGCAACAGCAGTAGTCATGAAAACTCTCATGGAAAGTTACTCC ATAGGATTGAAGAGCAAGAGGGTAAATTTCCCTCAGCAGTGGGGTCAGTG GTAAGATGGAGGCTGGTTTCAATGACTAACTCATCTAAAATCCTGCAAGT TTCAACTGCAGAGATGTCAAAGCTGATGATGATACCTGAAGGATTTCTGC TGGATGTGCCCATGGGGACAAAGCCAGAAGTTTGACTCAGAAGTTTCAGC AATGTGAAGAAAGGAAATCAGGTATTTATCACCAGACATTATGTCGTCAC TCAAAAGGACTCTAATTTTTAGAAGATTGACTGTCTAAAAGAAGGATACC TATGGGAAATGTTCTCTGATCTCAAAATGAAGGAAGGAATTCATAGCTAT CCCCAAAATCTACCATCTCTGCTTCAGGCAGACAGTT	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0211 a0001c0002t0001g0211	1	418	0.0024	-1786	c.483 others(17): Show c.483+3119_483+4904del		RAB38	ENSG00000123892.12	transcript	ENST00000243662.11	protein_coding	2/2						chr11	TogoVar
ASMTL_chrX_1398139_1457909	1408124	GCAGGAGG others(1778): Show GCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCAACACTGCCCTCCAGC CAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCT TGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCT CCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGA TCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACT GCCCTCCAGCCAAATGCTGCTACTCCCAAATACTCGGGAGGCTGAGGCAG GAGGATCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGACA ACACTGCAGTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGA GGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGA TGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAG GCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAAC TATGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTC GGGAGGCTGAGGCAGGAGGATCGCTTGAGTGCAGGAGGTCAAGGCTGCAG TGAACTATGATGGCAACACTGCCCTCCAGCCAAATGCTGCTACTCCCAAA TACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGC TGCAGTGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGCTACTC CCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGTGCAGGAGGTC AAGGCTGCAGTGAACTATGATGGCAACACTGCACTCCAGCCAAATGCTGC TACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGG AGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCAGTCCAGCCAAAT GCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGC CCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCTCCAGC CAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCT TGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCT CCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGA TCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCAACACT GCACTCCAGCCAAATGCTGCTACTCCCAAATACTCGGGAGGCTGAGGCAG GAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACA ACACTGCACTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGA GGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGA TGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAG GCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAAC TATGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTC GGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAG TGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAA TACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00558.hp2 others(57): Show HG00099.hp1 HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01123.hp2 HG01169.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02135.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG03041.hp1 HG03669.hp2 HG03834.hp2 HG04184.hp1 NA18943.hp2 NA18952.hp1 NA18959.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18973.hp2 NA18974.hp1 NA18980.hp2 NA18985.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA19011.hp2 NA19012.hp1 NA19057.hp2 NA19058.hp1 NA19074.hp2 NA19081.hp1 NA19083.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0011 a0013 a0015	a0001c0001 a0001c0008 a0001c0031 others(12): Show a0001c0001 a0001c0008 a0001c0031 a0002c0003 a0002c0004 a0002c0005 a0002c0013 a0002c0030 a0003c0002 a0003c0006 a0003c0039 a0004c0009 a0011c0040 a0013c0021 a0015c0036	a0001c0001t0001 a0001c0008t0001 a0001c0031t0001 others(12): Show a0001c0001t0001 a0001c0008t0001 a0001c0031t0001 a0002c0003t0001 a0002c0004t0001 a0002c0005t0001 a0002c0013t0001 a0002c0030t0001 a0003c0002t0001 a0003c0006t0001 a0003c0039t0001 a0004c0009t0001 a0011c0040t0001 a0013c0021t0001 a0015c0036t0001	a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0024 others(56): Show a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0140 a0001c0008t0001g0033 a0001c0008t0001g0087 a0001c0008t0001g0096 a0001c0008t0001g0097 a0001c0008t0001g0138 a0001c0008t0001g0150 a0001c0008t0001g0159 a0001c0031t0001g0125 a0002c0003t0001g0120 a0002c0003t0001g0121 a0002c0003t0001g0130 a0002c0004t0001g0148 a0002c0004t0001g0158 a0002c0005t0001g0001 a0002c0005t0001g0127 a0002c0013t0001g0076 a0002c0030t0001g0139 a0003c0002t0001g0012 a0003c0002t0001g0064 a0003c0002t0001g0074 a0003c0002t0001g0083 a0003c0006t0001g0136 a0003c0039t0001g0011 a0004c0009t0001g0128 a0011c0040t0001g0046 a0013c0021t0001g0055 a0015c0036t0001g0165	60	133	0.4511	-1785	c.164 others(19): Show c.1645+2823_1645+4607del		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12						chrX	TogoVar
ASMTL_chrX_1398139_1457909	1408156	GCAACACT others(1778): Show GCAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGC TGAGGCAGGAGGATCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAACTA TGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGG GAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTG AACTATGATGACAACACTGCCCTCCAGCCAAATGCTGCTACTCCCAAATA CTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGTGCAGGAGGTCAAGGCTG CAGTGAACTATGATGACAACACTGCAGTCCAGCCAAATGCTGGTACTCCC AAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAA GGCTGCAGTGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGGTA CTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAG GTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCTCCAGCCAAATGC TGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGTGC AGGAGGTCAAGGCTGCAGTGAACTATGATGGCAACACTGCCCTCCAGCCA AATGCTGCTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTG AGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCTCC AGCCAAATGCTGCTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATC GCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCAACACTGC ACTCCAGCCAAATGCTGCTACTCCCAAATACTCGGGAGGCTGAGGCAGGA GGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAAC ACTGCAGTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGG CAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATG ACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGC TGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTA TGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGG GAGGCTGAGGCAGGAGGATCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTG AACTATGATGGCAACACTGCACTCCAGCCAAATGCTGCTACTCCCAAATA CTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTG CAGTGAACTATGATGACAACACTGCACTCCAGCCAAATGCTGGTACTCCC AAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAA GGCTGCAGTGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGGTA CTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAG GTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCTCCAGCCAAATGC TGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCC AGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCTCCAGCCA AATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTG AGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0026 a0003c0026	a0003c0026t0001 a0003c0026t0001	a0003c0026t0001g0155 a0003c0026t0001g0155	1	166	0.0060	-1785	c.164 others(19): Show c.1645+2791_1645+4575del		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12						chrX	TogoVar
ASMTL_chrX_1398139_1457909	1408229	GCAGGAGG others(1778): Show GCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCTCCAGC CAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCT TGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCT CCAGCCAAATGCTGCTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGA TCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACT GCAGTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAG GAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACA ACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGA GGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGA TGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAG GCTGAGGCAGGAGGATCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAAC TATGATGGCAACACTGCCCTCCAGCCAAATGCTGCTACTCCCAAATACTC GGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAG TGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGCTACTCCCAAA TACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGTGCAGGAGGTCAAGGC TGCAGTGAACTATGATGGCAACACTGCACTCCAGCCAAATGCTGCTACTC CCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTC AAGGCTGCAGTGAACTATGATGACAACACTGCAGTCCAGCCAAATGCTGG TACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGG AGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCTCCAGCCAAAT GCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGC CCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCTCCAGC CAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCT TGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCAACACTGCACT CCAGCCAAATGCTGCTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGA TCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACT GCACTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAG GAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACA ACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGA GGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGA TGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAG GCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAAC TATGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTC GGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAG TGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAA TACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCC	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02622.hp2 others(2): Show HG01884.hp2 HG01891.hp1 HG02622.hp2 NA18906.hp1 NA19240.hp2	a0001 a0007 a0014 a0001 a0007 a0014	a0001c0012 a0007c0016 a0014c0022 a0001c0012 a0007c0016 a0014c0022	a0001c0012t0001 a0007c0016t0001 a0014c0022t0001 a0001c0012t0001 a0007c0016t0001 a0014c0022t0001	a0001c0012t0001g0070 a0001c0012t0001g0167 a0007c0016t0001g0170 others(2): Show a0001c0012t0001g0070 a0001c0012t0001g0167 a0007c0016t0001g0170 a0007c0016t0001g0171 a0014c0022t0001g0157	5	128	0.0391	-1785	c.164 others(19): Show c.1645+2719_1645+4503del		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12						chrX	TogoVar
ASMTL_chrX_1398139_1457909	1408439	GCAGGAGG others(1778): Show GCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCAGTCCAGC CAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCT TGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCT CCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGA TCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACT GCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAG GAGGATCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCA ACACTGCCCTCCAGCCAAATGCTGCTACTCCCAAATACTCGGGAGGCTGA GGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGA TGACAACACTGCCCTCCAGCCAAATGCTGCTACTCCCAAATACTCGGGAG GCTGAGGCAGGAGGATCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAAC TATGATGGCAACACTGCACTCCAGCCAAATGCTGCTACTCCCAAATACTC GGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAG TGAACTATGATGACAACACTGCAGTCCAGCCAAATGCTGGTACTCCCAAA TACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGC TGCAGTGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTC CCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTC AAGGCTGCAGTGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGG TACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGTGCAGG AGGTCAAGGCTGCAGTGAACTATGATGGCAACACTGCACTCCAGCCAAAT GCTGCTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGC CCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCACTCCAGC CAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCT TGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCT CCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGA TCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACT GCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAG GAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACA ACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGA GGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGA TGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAG GCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAAC TATGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTC GGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAG TGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAA TACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG01516.hp1 others(3): Show HG00438.hp2 HG00544.hp2 HG01516.hp1 HG02257.hp1 HG03239.hp1 NA18940.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0005 a0003c0002 others(1): Show a0001c0001 a0002c0005 a0003c0002 a0003c0006	a0001c0001t0001 a0002c0005t0001 a0003c0002t0001 others(1): Show a0001c0001t0001 a0002c0005t0001 a0003c0002t0001 a0003c0006t0001	a0001c0001t0001g0032 a0002c0005t0001g0134 a0003c0002t0001g0108 others(3): Show a0001c0001t0001g0032 a0002c0005t0001g0134 a0003c0002t0001g0108 a0003c0002t0001g0132 a0003c0002t0001g0153 a0003c0006t0001g0144	6	173	0.0347	-1785	c.164 others(19): Show c.1645+2508_1645+4292del		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12						chrX	TogoVar
ZNF516_chr18_76352682_76500242	76392913	CAGGTGGT others(1778): Show CAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG GGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAG GTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGA GGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGG GGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGG CAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTG GGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGG CAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0067 a0001c0002t0018g0067	1	338	0.0030	-1785	c.181 others(21): Show c.1811-14395_1811-12611del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
MYT1L_chr2_1784113_2336275	2257631	TAAAAATG others(1777): Show TAAAAATGGAACTATGTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGA GGCAAGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAA GGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGCTCCTGGG TAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTAATCTAC AGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCACAGAATT GGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCCGCATCG CCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACACTACCT GACTTCAAACTATACTACAGGGCTACAGTAACCAAAACAGCATGGTACTG GTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAA TAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGAGAAAAAC AAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTG GCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATA CAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACCTAAAACC ATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCGT GGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAAAAGCCA AAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAA GAAACTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTTT CGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAAC TCAAACAAATCTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCA AAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAA ACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCA AAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAA AAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACT TTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAG TGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCC ATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAA AGACACATGCACACGTATGTTTATTGCAGCACTATTCACAATAGCAAAGA CTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATG TGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTT CATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTA AACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGT GGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACT CTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGA TATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAGCATGGC ACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAA ACTTAGAGTATAATAAAAAAAAAAACATTAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03540.hp2 HG01109.hp1 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0012 a0001c0004 a0001c0012	a0001c0004t0012 a0001c0012t0013 a0001c0004t0012 a0001c0012t0013	a0001c0004t0012g0020 a0001c0012t0013g0005 a0001c0004t0012g0020 a0001c0012t0013g0005	2	101	0.0198	-1784	c.-42 others(21): Show c.-421+24989_-421+26772del		MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24						chr2	TogoVar
B3GNTL1_chr17_82937149_83056770	82974916	CCAGGGCC others(1775): Show CCAGGGCCCCAGGACAGAGCCGGACTCCATCCTCCCAGGGACCGGAGGCC ACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGG GGCCGGAGGCCACTTATGGGGAACCAGGGCCCCAGGACAGAGCCCGACTC CATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACA GAGCCGGACTCCATCCTCCCAGGGGCCGGAGGCCACTTATGGGGAACGAG GGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCACTA TGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGGCC GGAGGCCACTTATGGGGAACGAGGGCCCCGGGACAGAGCCGGACTCCATC CTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGC CGGACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCC CGGGACAGAGCCGGACTCCATCCTCCCAGGGGCTGGAGGCCACTTATGGG GAACGAGGGCCCCGGGACAGAGCCGAACTCCATCCTCCCAGGGACCAGAG GCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCC AGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGAC TCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGA CAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCA GGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCACT ATGGGGAACGAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGGC CGGAGGCCACTTATGGGGAAACAGGGCCCCAGGACAGAGCCCGACTCCAT CCTCCCAGGGGCCGGAGGCCACTTATGGGGAACGAGGGCCCCGGGACAGA GCCAGACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGC CCCGGGACAGAGCCGGACTCCATCCTCCCAGGGGCTGGAGGCCACTTATG GGGAACGAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGGCTGG AGGCCACTTATGGGGAAACAGGGCCCCAGGACAGAGCCCGACTCCATCCT CCCAGGGGCCGGAGGCCACTTATGGGGAACGAGGGCCCCGGGACAGAGCC AGACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCC GGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCACTTATGGGG AAACAGGGCCCCAGGACAGAGCCGGATTCCATCCTCCCAGGGGCTGGAGG CCACTTATGGGGAACGAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCC AGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGAC TCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGA CAGAGCCGGACTCCATCCTCCCAGGGGCCAGAGGCCACTTATGGGGAAAC AGGGCCCCAGGACAGAGCCCGACTCCATCCTCCCAGGGGCCGGAGGCCAC TTATGGGGAACAAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGG ACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCA TCCTCCCAGGGACCAGAGGCCACTATGGAGAGT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp1 HG02451.hp2 others(9): Show HG01891.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp2 HG02630.hp1 HG02896.hp2 HG02922.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 NA19043.hp2 NA20300.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0003 a0001c0006 a0001c0011 others(4): Show a0001c0003 a0001c0006 a0001c0011 a0001c0014 a0003c0030 a0004c0017 a0004c0019	a0001c0003t0015 a0001c0006t0011 a0001c0006t0018 others(6): Show a0001c0003t0015 a0001c0006t0011 a0001c0006t0018 a0001c0011t0011 a0001c0011t0012 a0001c0014t0002 a0003c0030t0011 a0004c0017t0002 a0004c0019t0004	a0001c0003t0015g0195 a0001c0006t0011g0016 a0001c0006t0011g0028 others(9): Show a0001c0003t0015g0195 a0001c0006t0011g0016 a0001c0006t0011g0028 a0001c0006t0018g0017 a0001c0011t0011g0139 a0001c0011t0011g0140 a0001c0011t0012g0143 a0001c0014t0002g0012 a0003c0030t0011g0141 a0004c0017t0002g0137 a0004c0017t0002g0138 a0004c0019t0004g0192	12	264	0.0455	-1782	c.460 others(18): Show c.460-10952_460-9171del		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288210	TCTGCTCC others(1774): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC CCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCC GTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTC TGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCC CGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCC GTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCC GTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTG CTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTC TGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCC GTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC CCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGA GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	282	0.0035	-1781	c.35 others(11): Show c.3573_*5353del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					4180		chr1	TogoVar
KCNH1_chr1_210673314_211139148	211126390	GTCCCAGC others(1772): Show GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCCTGAACCCGGGAG GCGAAGCTTGCAGTGAGCCGAGATTGCGCCACTGCATTCCAGCCTGGGTG ACAGAGCGAGACTCTGTCTCCAAAAAAAAAAAAAAATTAGCTGGGTGTGG TGGCACATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATG GAAGGATTACTTGAGCCTGGGAGGCAGAAGCTGCAGTGAGCTGACATCGC ACCACTCCAATCCAGCCTGGGTGACAGAGTGAGATCCTATAATATCTCAA AAAAAAAAAAAAAAAAAGACTGCACTTGCCTAGAGAACAGCCAGAGCATC AGGCAAATTCCAGTATCTAGGATGTGCTAAAAACTCACACCAATGGATGA GCAACCCAAGACAGCATGCCAAAGAAGACAGAGCAATGGGATATCCCAGA GGAATGTGGTTTGTTTAAAGAAACCTCAACTGCATCAGAACAAAATGTCA CACATTCTGCAATCTTCTTTTAATTCACTTACGGGATCTGGTTATCCCAC ACCCAACCTCACAAAAAAAAATAGCTATAAAATCTAAGAATAATTTTGGG TGAGGTGTTTATAAAGGAAAAATATGTAGTAAGTGTTGAATCAGTATAAC ATCCCTTAAATCTTTGGAGAGGTTTACAAAGCATGTTGGCCTCCGTCATA GATTCCTCTGTTAGACCCAGCATCACAAAAGCTGTACTCATTTTGGTATT CCTACTTGTTAGCACAGTATTGGGCACATAGGAAGTCCATCGTGCTTATA AAACTGAACCGTAAGCTAGCCTTTGCTTTTTGTTTTAATTTTCCATTGAG TTTTGATTCCTCCACTAAATCTGTGCCTTTCCTTCAGTCATTTTGTTTTC ATTTCAGTGAAACAAATATAAATCATTCACTTCCTAGTTCCTTCTCCCTT CCAGCTCTAATTCTTGCATAATCTCTGTCCCCAGGGTTTACTGCTTCTCA AATTAAGAAAATGAATATCCTAAACACACACACACCAAAAAAAAAAAAAA AAAAAATCCCACCACACTTGCATGTACCCTTTGCACATAATTCAAACTGT ACAAGTCTTTCGCATCATTTACAATCGTGTGTGAGGGAGCTCCTCAGAGA GAATACTTCAACCCACAGTGGATACTGATGCCTCCCAAAGGGCAAGAGCA AGTTTTGTTTTCATTTAATTTTGGTCATGTGCTCCTATTAACATAACTCT CAATGACCCTGTTTTATTAGGTACTAGATTGTTTGGGCAACATCACTACT AAAGACAAAAGAAGAAAATACCAAATGCTGGCAAGGATGTGCTGCAGTGA TAGAAACGCTCACACACGGCTGGTGGGAGTGTATATTAATATAAAACCTT TGGAAAACTGTTTGACAGCATCTACCACAGTTAAACATGTGCATCCTAGG TATACACCCAAGAGAAATGTGTGCCCACATGCTCCAAAAGACATACTAAA AATGTTTGTAGCAGCATTAATAGCACAAAACTGGAAACAATCCATCAGTG GCAGATCGGACACAATGTGTGGTACAGTCATACTATAAAGCACGATGCAG CAGTGAAAATGCATCAACAGGCCAGGCGTGGTGGCTCGTGCCTGTAATCT CAACACTTTGGAAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGTTCAAG ACCAGCCTGACCAACATGGTGAAACCCTGTATCTACTAAAAATACAAAAA TTAGCCAGGCATGGTGGTGCACACCTGTAA	G G	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	162	0.0062	-1779	c.79+ others(15): Show c.79+5698_79+7476del		KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	1/10						chr1	TogoVar
ZDHHC19_chr3_196192452_196216400	196199732	TCAGGAGT others(1772): Show TCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACT AAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTGATCCCAG CTACTCGGGAGGCTGAGACAGAAGAATCGCTTGAACCCGGGAGGCGGAGG TTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGC GACACTCTGGCTCAGAAAAAAGAAACTGGTATTGTATTAGTCATTTAGAA GATTTTGATTAAATTTATGGAATTTGGGCCAGGCATGGTGATTGGCACCT GTAATCCGAGTGTTTTGGGAGGTGGAGAAGGGAGGATCTCTTGACCCCAG AAGTTCAAGACCAGCCTGAGACTTTCATCTCTAAAAAAATAAAAATAGGT GGCTGTGGCATTGTGCACCTGTAGTCTCAGCTTCTTGGGAGGCTGGGATG AGAGGATCCCTTGAGCCTAGGAGTTCGAGGCTGCAGTGAGCTATGATTAC GCCACTGCACTCCAGCCTGAATGACAGAGTGGGACCCTGTCTCTAGAAAA ACTAAAATCTAATAAAAATATATTGACAGAATTTTAAAATTTAGGGATAT ATATATATATATGTATATATATATATAATTTTTTTTTTTTTGAGATGGAG TCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACT GCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGATTACAGGTGCTCGCCACCACGCCCAGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAA GCGTGAGCCACCACGCCTGGCCTTTTTTTTTTTTTTTTTTAGACGCAGTT TTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGATCATAGGTCCTCACAAAT TCAAACTCCTGGGCTCAAGGGATCCTCCCACCTCTGTCTCCCAAGTAGCT GAGACTACAGGCATGCACCACTATGCCCAGCCAATTTTTAATTTTTTTTG CAGGAATGGGGTCTGGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCC TCAAGCGATCTTCCCACCTCAGCCTTTCAAAGGGCTGGGATTACAGGTGT GAGTCACTGTACCCGGCATTAGGGAAATAAATTTTTATTTATTAGATGTA TATAAGGTATAGAAAAATGTTGATTGTATATGAGGCATAGAAAAATGCTT AAAGGAATGATGATCTTTAATAAATTCATAAGACTGACCCATACATTTTT CTTTTTTTTGAGACGGAGTCTCACTGTGTCGCCCAGGCTGGAGTGCAGTG GCACGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCT TCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCATCACGC CCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCC AGTCTCGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTG CTGGGATTACAGCCGTGAGCCACCGCACCGGGCCAAAACTGACCAATACA TTTGTACCTGCCTCTCCCACGCAAGATGCTTTCAGATATGAATGAAACCA ACAGCTCTTGGCCGGGCACCGTGGCTCACACCTGTAATCCCAGCACTTTG GAAGGCCAAGGCGGGTGGATCACTTGAGGC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02965.hp2 HG01099.hp1 HG02965.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0014 a0001c0001 a0012c0014	a0001c0001t0009 a0012c0014t0001 a0001c0001t0009 a0012c0014t0001	a0001c0001t0009g0179 a0012c0014t0001g0114 a0001c0001t0009g0179 a0012c0014t0001g0114	2	440	0.0045	-1779	c.688 others(16): Show c.688-2637_688-859del		ZDHHC19	ENSG00000163958.14	transcript	ENST00000296326.8	protein_coding	5/7						chr3	TogoVar
ARHGAP26_chr5_142765377_143234007	142890933	TTCCTTAT others(1771): Show TTCCTTATAGGGATTTCCTTCTGGATCCTTCTTCTCTGCCTTTGCAGATT TTCAGAATGATTTCTCCTGTTTTCCCCCTCCACTTGCAGTGTCAGTTGGC AAGCCCAGGCAGAGAGAAGCTTTGAGGTGTGTGGGGTGGTTGGGAGTAGA TGCATCTCTCCGTGTAAGCGTGTTGGATTTGCGCTACAAGAAGATCAAAG GCTACAGGAACACATGGGGCTTAGCCGCAGGAGCCCAGTTGGAAGGCGTA TCAGCCCAGTTGTCTAAGCAGCCACACGATGCAGGGGGTGGTGGTGGTGA GAAGCAGGACCTTCTGAAACCTGTCTCCAAGTAAAGATTCATCAGTGCTC AGATATCTCCTTTCCCTGATTGGAAGTCTTAGAAAATGCCCCCAGTCTTA GCCTTTCAGATTGGTTTGATCCAGCAGTTACTCAGCAGACTGGCTTTTGA GTATGAGAATGTCCATTGCTGTGGGAGGAAGTTGCTAGCATGAGAGACTT GAATATATTCTTTCGGGGTGTTTTATAACATAATGTGTTTTACCAGAGCT TGTAGTTTTCTCTTAACTTACTTATTTGACTAATGTCTGTTTTCTTTACT ATGCTGTAAGTTCTATGAAGGAAGTTTCTTTTTCTCATGATGGTGGAATG GATGGATGATTTGCTAAGCTCTTAAGATGTCAAGTAGCATATTGTATTTG GTATAATGGAAGTAGGGGTCTGTTCCAAGTTTCTTCTGTAGGAATGTTGA CAAAGGAACACTGAAAGAAATATGCCTTTGGGAGCTGTGTCTTAGTAAAG GGTGTTATAGAACGGTTTCTGACTGTGTCATTTCTAAGGAAAACAGTGTT TTGTTTCTTACTAGCAGGATATTCATTTATATTAAAAATATATATTCACT TTAGTGTTTTGTCATTGAAATATGCTTTCAGTGTAATTATCTGCTTTGAA GGAATGATTTGACACACATTATGGAAAGGTTTAGAGCTTTATAGTGAGAG TTGAGGTACTTCCCAGCATAGCATCTTGCAACTCCATACGTGGAGTTTCT CCCTGGGTGCCAGATCCCAGATCAGTGGTTCAATTGTACCCGCTCGTGGG CCTGTCCTGGACACACACCTGCACAGAGGGAGAAGTGAAATTGAGAGGGA GTGTTGAAATTTCCCTGCTTGGAGTAAACTGTTGTTCTTATCACAAAGGA AGTATTTGGGACTTCTGTGAACATGGCCCATGGCCTTTTCTGAGATTCCC TGCCCTCTGACAGCTTGTTTTGTGTATTGGAAAGGTCTAGATGAGGATGG CTCTGCAGGAATTTCTTTTTCACTGTAAGAATCTGTCTCCCATGGAACCC AGGTTGTCCCAGGGTATGGGGAGACAGTGGAGACTGGTGGTTTCAGGATG ATCCAAGGGCCTTGGGGGCAGATCCACCAGGACAGAAATCCCAGCTCTGC CGTATACTAGCTGTGTCACCTTAGTCAAGTTCCTTAATGGCAATGGATTA TATTTTCTTCCTGTATGTTAGAGATACAGATAATATCTCTTTTCTAGGAA TTTAGTGAAGATTAAATAATTAAAATTAATGAGGATTAAATAAGGTAATG TATGTACAGCTATGGGCATGATTCCTGGCACAAAGTTAGTGCTTAGGTAA CCATTATCATTATTCTTATTTCTGTTTGGTTTGTTGATTACTTTTAACAT GTGACATACTATTTGGGCTAATATGACGTCTGTTTGGCTCACCCACTTAC CTTTTTTATTGATATGTAATAATCATACA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02723.hp1 HG02615.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0019 a0001c0001t0015 a0001c0001t0019	a0001c0001t0015g0037 a0001c0001t0019g0049 a0001c0001t0015g0037 a0001c0001t0019g0049	2	196	0.0102	-1778	c.487 others(17): Show c.487-3303_487-1526del		ARHGAP26	ENSG00000145819.18	transcript	ENST00000645722.2	protein_coding	5/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
FMN2_chr1_240086883_240480187	240229699	GCCAGTGG others(1771): Show GCCAGTGGCATGATCTCAGCTCACTGCAGCCTCTGCCTCCCCGGTTCCAG CGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGATTACAGGCATGCACC ACCATGCCCAGCTAATTTTTGTATTTTAGTAGAGACAGGGTTTCACCATG TTGGTCAGGCTGGTCTCGAACTGCTGACCTCAGGTAATCCACTCACCTCA GCCTCCCAAAGTGCTAGGATTACAGGTATGAGCCACCGTGCCCAGCAGAA AAGTATCTTTGAAATATCAAGTTTTAGTAAACACATTTTAAGAAACTGTA GTATAAACCTTGCTAACCAAAAATTTATAGAAGAGAGGCCGGCGCAGTGG TTCATGCCTATAATCCCAGCCTTTTGGGAGGCTGAGGTGGCAGGATCACT TGAACCCAGAAGTTTGAGACCAGCCTGGGAAACACAATGAGACCACGTCT CTACAAAAAAATACAAAAATTAGTTGGGCATGGTGGCATGTGCCTGTAGC CCCACCTACTCCCAGCTGCTTGAGAGGCTGAGGCAGGAGGATCGCTTAAG CCCAGGAGGTCAAGGCTGCAGTGAGCCGAGATCAAGCCACTGCACTCCAG CCTGGGCAAGAGAGTCAGACCCTGTCTGAAAAACAACAACAACAACAAAA AAACTAACCCAATAGCTTATAGAAAAGAAAGAGAATAGTGTAAATGAAGT TAAAATGAGAGCAGGAAGAGCTGACGTCCCCTAAAGCTTTGATGCCACCT AAAGTATTTCTGTTTTTTCCTATTTTTTCTCAGAGAGCCATAAAAAAATT TTGTTTTGAGGTGTGTATTAGTAGGAATGTAGGCAAGGCTTTTCTTTAAT TGATCCATGTGTTAATCTTTATGTATAGTTCTGTGTATTTTTCTATATGG ATTGTAATGTTGCCATTAAAACTTTTTACAAAACATGTATAGGTCACTCT TTAAATTTCCTTAGCTGTAAATATAGTACAGAATGACTCCTTTTCTCTTT TAATACTCTCCTGTATAATGTTGTTGGTGTTTTTACTTGCAGCTCCTTTT ACTAACATTTTGTGTACTTAATTACCCCTGTAAGTAAAGCTTTTCATAAT TAGGATGGAATTTTGCCTGCTTTTTTCTAGTGCCAACAAAAGAAACTAGC ATGTTCTTCATGCTAGAAGCTAGAATCTGAGTTGAAATCCACTTGCAGCT GAGTGCTTTTTAAATGATCAGCTTTTCTTCAATGGCCTAGATCGGCACAA GGCTCCATAGAAATTGGCTTTGAGTTGGTCTCCATCCTTTGAACTGGCAA GGAAAGACACAGTAACTTGTTTTGTTTTGAAAGCTAGATTGCAGTATTCC CCCAGTGATGCCAGACTGACTTGGCTGTTGTGTTGTAAGTAAAAACTTTC CTATTCCAGTAATGCCAGCCTTCTTCTCAATACTGCCACACACGAAGCAG GTAGACACACAGCTATTCCAAAAACAAGAAAACAAAACAAAAAACTCTCT AATTTGACCATCTCTTTGCGTTCCACATTAAGCCTTCCAAAAAATAAAAC AATACAAACTTGCCAAATATAAGACCAAAACAAAGCTTTTTCTTTTTAAA ATGATTGAAAATGTATTTCGCTATGTTTCTACCAATGTGAACAAAGCTTG ACTGTATTAAAAAATCTGATCATTATAAAATGCAGATGAAGAAGATCAAA TGGCAAGGTGGTTTCAGTTTATTCTGAATATTTTAGTGACAGAAAGTTGA ACAGGAAGGAAACAGGTGTTAGTGTAAAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00544.hp1 others(74): Show HG00140.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG01069.hp2 HG01081.hp1 HG01106.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01981.hp1 HG02015.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG06807.hp1 NA18948.hp2 NA18952.hp2 NA18960.hp2 NA18962.hp2 NA18972.hp1 NA19000.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 others(35): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0013 a0016 a0019 a0020 a0022 a0023 a0024 a0028 a0029 a0030 a0032 a0034 a0035 a0038 a0039 a0041 a0047 a0048 a0049 a0050 a0052 a0054 a0055 a0057 a0058 a0063 a0065 a0067	a0001c0126 a0002c0009 a0002c0023 others(59): Show a0001c0126 a0002c0009 a0002c0023 a0003c0010 a0003c0073 a0003c0086 a0003c0087 a0003c0088 a0003c0105 a0003c0118 a0003c0119 a0004c0007 a0004c0021 a0004c0085 a0004c0103 a0004c0117 a0004c0127 a0005c0004 a0005c0034 a0005c0035 a0005c0052 a0006c0090 a0008c0056 a0009c0005 a0009c0054 a0010c0019 a0010c0055 a0010c0110 a0011c0083 a0013c0074 a0013c0120 a0013c0121 a0016c0013 a0016c0037 a0019c0011 a0019c0027 a0020c0038 a0022c0014 a0023c0106 a0024c0104 a0024c0132 a0028c0033 a0029c0067 a0030c0039 a0032c0066 a0034c0036 a0035c0123 a0038c0062 a0039c0080 a0041c0032 a0047c0079 a0048c0122 a0049c0063 a0050c0114 a0052c0058 a0054c0081 a0055c0028 a0057c0050 a0058c0049 a0063c0029 a0065c0112 a0067c0072	a0001c0126t0001 a0002c0009t0001 a0002c0023t0001 others(68): Show a0001c0126t0001 a0002c0009t0001 a0002c0023t0001 a0003c0010t0001 a0003c0010t0003 a0003c0073t0004 a0003c0086t0002 a0003c0087t0002 a0003c0088t0004 a0003c0105t0003 a0003c0118t0003 a0003c0119t0001 a0004c0007t0002 a0004c0007t0003 a0004c0007t0004 a0004c0021t0001 a0004c0085t0002 a0004c0103t0008 a0004c0117t0006 a0004c0127t0008 a0005c0004t0001 a0005c0004t0003 a0005c0004t0006 a0005c0034t0003 a0005c0035t0007 a0005c0052t0001 a0006c0090t0002 a0008c0056t0001 a0009c0005t0003 a0009c0054t0003 a0010c0019t0001 a0010c0019t0007 a0010c0055t0001 a0010c0110t0003 a0011c0083t0002 a0013c0074t0002 a0013c0120t0007 a0013c0121t0003 a0016c0013t0001 a0016c0013t0003 a0016c0037t0001 a0019c0011t0001 a0019c0011t0007 a0019c0027t0001 a0020c0038t0001 a0022c0014t0001 a0022c0014t0003 a0023c0106t0001 a0024c0104t0008 a0024c0132t0005 a0028c0033t0001 a0029c0067t0004 a0030c0039t0001 a0032c0066t0002 a0034c0036t0001 a0035c0123t0001 a0038c0062t0009 a0039c0080t0011 a0041c0032t0001 a0047c0079t0004 a0048c0122t0001 a0049c0063t0009 a0050c0114t0007 a0052c0058t0001 a0054c0081t0002 a0055c0028t0001 a0057c0050t0001 a0058c0049t0007 a0063c0029t0001 a0065c0112t0003 a0067c0072t0002	a0001c0126t0001g0137 a0002c0009t0001g0072 a0002c0009t0001g0111 others(74): Show a0001c0126t0001g0137 a0002c0009t0001g0072 a0002c0009t0001g0111 a0002c0023t0001g0078 a0002c0023t0001g0080 a0003c0010t0001g0074 a0003c0010t0001g0076 a0003c0010t0003g0073 a0003c0073t0004g0067 a0003c0086t0002g0056 a0003c0087t0002g0097 a0003c0088t0004g0061 a0003c0105t0003g0128 a0003c0118t0003g0115 a0003c0119t0001g0166 a0004c0007t0002g0087 a0004c0007t0003g0050 a0004c0007t0004g0091 a0004c0021t0001g0082 a0004c0021t0001g0106 a0004c0085t0002g0099 a0004c0103t0008g0155 a0004c0117t0006g0108 a0004c0127t0008g0156 a0005c0004t0001g0016 a0005c0004t0003g0026 a0005c0004t0006g0154 a0005c0034t0003g0003 a0005c0035t0007g0024 a0005c0052t0001g0025 a0006c0090t0002g0081 a0008c0056t0001g0144 a0009c0005t0003g0037 a0009c0005t0003g0043 a0009c0005t0003g0048 a0009c0054t0003g0006 a0010c0019t0001g0133 a0010c0019t0007g0113 a0010c0055t0001g0079 a0010c0110t0003g0170 a0011c0083t0002g0049 a0013c0074t0002g0060 a0013c0120t0007g0136 a0013c0121t0003g0117 a0016c0013t0001g0034 a0016c0013t0003g0011 a0016c0037t0001g0044 a0019c0011t0001g0159 a0019c0011t0007g0158 a0019c0027t0001g0160 a0020c0038t0001g0023 a0022c0014t0001g0010 a0022c0014t0003g0028 a0023c0106t0001g0172 a0024c0104t0008g0167 a0024c0132t0005g0146 a0028c0033t0001g0018 a0029c0067t0004g0069 a0030c0039t0001g0008 a0032c0066t0002g0092 a0034c0036t0001g0013 a0035c0123t0001g0077 a0038c0062t0009g0058 a0039c0080t0011g0057 a0041c0032t0001g0015 a0047c0079t0004g0100 a0048c0122t0001g0127 a0049c0063t0009g0059 a0050c0114t0007g0110 a0052c0058t0001g0143 a0054c0081t0002g0168 a0055c0028t0001g0145 a0057c0050t0001g0009 a0058c0049t0007g0157 a0063c0029t0001g0021 a0065c0112t0003g0112 a0067c0072t0002g0051	77	172	0.4477	-1778	c.406 others(21): Show c.4065+18465_4065+20242del		FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	6/17						chr1	TogoVar
MYO9A_chr15_71817291_72123150	72022830	GTGAGTCA others(1771): Show GTGAGTCACCACACCCAGCCAAAAAAAATCCAGTTTTCAACAACAACAAC AAAAAATTATAAGGCATGCAAAGAAAGAAGACAGTATAGCCGATACAAAG TAGAAAAAGTATTAATTAATAACTGTCCCTGAAAAAACCCAGACATTAGA CTTACAAGATTTTAATCAGCTATTTTAAACGTGTTCAATGAACTACAGAA AGTCACATTTAATGAACTAAAGAAAACTATGAGAACGCTATCTCACCAAA TAGAGACTAATATACAGGACTTTAAAGAAATTAATCCAAAAAGAATTCTG GAGTTGAAAAATATAACTGCAATGAAAAAGTATCCAGAGGAGCTCAACAG CAAATATGAGTAGGCAGAAGAAAGAACCAGTGAACTTGAAGAAAAAATCA ACAAACATGAAGACAGGTCAATTGACTCTCGTCTAAGGAACAGAAGAAAA AATAAAATGGAGACCACAAGGTCTCAGAGACCTGTGGGACACCATTAAAA AGACTCCTATGGCAGGCACGGTGGCTCACACCTATAATGCCAGCACTTTG GGAGGTGGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTAAGGCAGCTCA CGCTTATAACCCCAGTACTTTGGGAGGCAGAGGTGGGTGGATCACCTGAG GTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCCGTCTCTAC TAAAATTACAAAAAAAATAGCTGGGCATGGTGGCAGGCACCTGTAATCCT AGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGAA GGTTGTACTAAGCTGAGATCACACCATTGCACTCCAGCCTGGGCGACAAG AATGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAGAAAAGAAAAAAAGGC TCCTATACTGGGGGTTCTAAAAGGAGAAAAAAGAAAGGGACATAAAGAAT ACTTGAAAAAACAATTGCCAAAATCTCTCTCCAAATTTGATGGAAAACAT TAATCTGCACATCCAAGAAATTCAATGAACTCTAGAGAGTATAAACTCAA ATCCACATTTTGACAAACCAAAATTCTTGAAAGGCAAAGACAAAGAATTT TGAAAGCACCAAGAGAGAAATTCCTCATCAAGGAATCCTAACATAAGATT AACAGCTGATTTCTCATCACGAACCATGGCAGACAGATAACGTATTCAAA ACGTTGAAAGGAAAAAAAAATTGTCAATCAAGAAGTATATATCCAGGAAA AATAAAGGAGAAATTAGAATACTGCCAGATAAACAAAGTTGGACTTCACA GCTATAGATGGTCCTTACAAGAAATACTAAAGGGAGTTCATTTTTCTGAC TGAAATAAAAGGATACTAGACAAGATTCAATTAAACATGAAGAAATAAAG AACACTGGTAAAAGTAACTACATAGGTAAATATAAAAGATAGTATAAATT AATTAACTCATTGATTGATTGATTGACAGGATCTCACTCTGTTGCCCAGG CTGGAGTGCAGTGGCATGATCTCGACTCACTGCAACCTCTATCTCGTTTC AAGTGATCCTCTCACCTCAGCCTCCTAAGTAGCTGGGACTACAGGCGTGC ATCACCACACCTGGCTAATTTTTGTAGAGATAAGGTTTTGCCATGTTGTC TAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCCACCTTGGCTTC CCCAAAGTGCTGGGATTACAGGCAGGAGCCACTGCACCTGGCCTATTTTT TATGTATAACACTTTTTTCCTATTAAACT	G G	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	306	0.0033	-1778	c.998 others(17): Show c.998+3123_999-1814del		MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	4/41						chr15	TogoVar
TRIP13_chr5_887884_923120	898074	GTCAGTGT others(1771): Show GTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAG CCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGG GCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAAC AGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGT CAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCC CAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGC TCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAG GTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCA GTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCA GGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTC TGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGT GGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGT GTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGG GCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTG GCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGG ATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGT GTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGC TTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGC AGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGAT TTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGT GGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTT CATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAG GCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTT GGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGG GGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCA TTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGC CAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGG ATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGG AAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATG CAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCA AGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGAT GGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAA ACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCA GTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAG CCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGG GCTCTGGCAGGCCAAGCCCAGGGCTTCAT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02451.hp1 others(7): Show HG01884.hp2 HG02055.hp1 HG02451.hp1 HG02630.hp1 HG02723.hp1 HG02818.hp1 HG03041.hp2 HG03139.hp2 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0058 others(1): Show a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0058 a0001c0001t0002g0116	10	399	0.0251	-1778	c.388 others(16): Show c.388+1385_389-538del		TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF10_chr8_1818926_1963641	1888173	GTGAGTGG others(1770): Show GTGAGTGGGGTGAGGGTTTGCGAGGAGACACTTAGTGGGGCGAGGGTTGC GAGGAGACAGTGAGTGTGGTGAGGGTTGCGAGGAGATGCTGAGTGGGGCT GTAGGTTCTGAGGAGGGGTGGGGTGAGGGTTTGTGAGGATATGCTGAGTG GGATGTTGACTGTGAGGAGACACTGAGTGGGGTGAGGGTTGTGAGGAGAT ACTGAGGTGATAGTTTTGAGGAGACAGTGGGGTGAGAGTTGTGAGGAGAC ACTGAGTGTGGAGGGCTGTGAGGAGGCACTGAGTGGGGTGAGGGGTATTG AGGAGACACTGAGTGGGGTAAGAAGTCTGTGGAGATACTGAGTGGGGTGA GGGGTCTGTGAGGAGACGCTGAGTGGGGTGAGGTATGGGGAGACACTGAG TGGGGTGTGAGGGGTCTGTGAGGTGTCACTGAGTGTGGTGAGGTTTGTGA GGAAACACAGAGTGTGGTAAGGGTCCTGAGGAAACACTGAGTTGGGTGAG GGTTTGTGAGGAGACACTGAATAGGGTGAGGTTTGTGAGGAGACACTGAA TAGGGTGAGGTTTGTGAGGAGACACTGAATAGGGTGAGGTTTGTGAGGAG ACACTGAGTGGGGTGAGTATTGTGAGGAGACACTGAGTGGGGTGAGAGTT ATGAGGAGACACTGAATAGGGTGAGGTTTGTGAGGAGACACTGAGTGGGG TGAGAGTTATGAGGAGACACTGAGTTGGGTGAGGGTTGTGAGGAGACAGT GGGGTGAGGGGTCTGTGACGAGACACTGAGTGGGGTGAGGGGTCTGCGAG GAGACACTGAGGTGTGAGGGGTCTACAAGGAGTCACGGAGTGCAGTGAGA GTTGTGAGGAAACATGGAGTGGGGTGCGGGTCATGAGGAGACAGTGATTG GGGTGAGGGGTCCGTGAGGAGACACTGAGTGGGGTGTGAGGGGTCTGTGA GGAGACACTGTGAGTGGGGTGAGGGTTGTGAGGAGACGCTGAGTTGGGGG GTTGTGAGGAGAGCGTGGGGTGAGGTTTATTAGGAGACACTGAATGGGGT GAGGGTTGTGAGGAGACATTGAGTGGGATGAGAGGTGTGAGGAGACACTG AATGTGGTGAGGGTTTGTGAGGAGATACTGCATGGGGTGAGCTTTCTTAG GAGACACTGAGTGGGTAAGAGTTGTGAGGAGACACTGAGTGGGGTGAGGG GTATGTGAGGAGACAGTGATGTGAGGCATCTGTGAGGAGACACTGAGTGG GGTGAGGGGTCTGTGAGGAGACACTGAGTGGGGTGAGGGGTCTGTGAGGA GACACTGAGTGGGGTGAGGGGTCTGTGAGGAGACACTGAGTGGGGTGAGG GGTATTGAGGAGACACTGAGTAGGGTAAGGAGTCTGTGTGGAGACACTGA GTGGGGTGAGGGGTTTGTGAGGAGACACTGAGTGTGGGTGAGGGGTCTGT GAGGAGTCATGGAGTGTGGTGTGAGTTGTGAGAAAACTCGGAGTGGGGTG AGGGTCGTGAGGAAACAGTGGGGTGAAGGTTTGTGAGGAGACCCTGAGTG GAGTGAGGGTTGCGAGGAGACATTGAGTGGGATGAGGGTTGTGAGGAGAC ACTGAGTGGGGTGAGGGTTGTGAGCAGACACTTCATGGGAGGAGGGTTTG TGAGAAGACACTAGGTGGGGTGAGGTTTGTGAGGAGACACTGAGTGTGGT GAGGGTTTGTGAGGAGACACTGCATGGGGTGAACTTTGTTAGGAGGCAGT GAGTGGGGCGAGGGTTGTGAGGAGACAC	G G	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0183 a0001c0006t0001g0183	1	335	0.0030	-1777	c.118 others(19): Show c.1182+2476_1183-3610del		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
MUC4_chr3_195741771_195816929	195786333	GTCAGTGA others(1769): Show GTCAGTGACAAGAAGAGGGCTGGCGTGACCTGTGGATGCTGAGGAAGGGC TAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTG GTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGCCGAGGAAACGTCGGT GACAGGAAGACGGGTGGTGTCATCTGTGGTAGCTGAGGAAAGGCCGGTGA CAGGAAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGTGCTGGTGACA GGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATG AAGAGGGGTGGCGTGACCTGTGGATAATGAGGAAGCATTGGTGACAGGAA GAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGA GGGGTGGTGTGACCTGTAGATGCTGAGGAAGGGCTGGTGACAGGAAGAGG GGTGGTGTCACCTTTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGG TGGTGTGACCTGTAGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGGTG GTGTGACCTGTGGATACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGT GTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGT CACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGA CCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGAGTGACGTGACC TGTGGATGCTGAGGAAGTGCTAGTGACAGGAAGAGGCGTGGTGTCACCTG TGGATACTGAGGAAGTGTCGGTGACAAGAAGAGAGGTGGCCTGACCTGTG GATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGA TGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGACA CTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGCGTGTCCTGTGGATGCT GAGGAAGTGTCGGTGACAAGAAGAGGGGTGGCGTGACCTGTGGATGCTGA GGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGG AAAGGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAA GCATCAGTGACATGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGC GTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC TAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATGCTGAGGAAAGGCTG GTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTGGT GACATGAAGAGGAGTGACGTGACCTGTGGATGCTGAGGAAGTGCTAGTGA CAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAGTGTCGGTGACA AGAAGAGAGGTGGCCTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGG AAGAGGGGTGGTGTGACCTGTGGATGCTGCGGAAGGGATGGTTACAGGAA GAGAGGTGGCGTGATCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGA GGGGTGGCGTGTCCTGTGGATGCTGAGGAAGTGTCGGTGACAAGAAGAGG GGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCG TGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTG GCCTGACCTGTGGATGCTGAGGAAGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18947.hp2 NA18979.hp2 NA18982.hp1 others(2): Show NA18947.hp2 NA18979.hp2 NA18982.hp1 NA19086.hp1 NA20300.hp1	a0010 a0103 a0119 a0010 a0103 a0119	a0010c0010 a0010c0029 a0103c0099 others(1): Show a0010c0010 a0010c0029 a0103c0099 a0119c0135	a0010c0010t0001 a0010c0029t0001 a0103c0099t0001 others(1): Show a0010c0010t0001 a0010c0029t0001 a0103c0099t0001 a0119c0135t0013	a0010c0010t0001g0121 a0010c0010t0001g0122 a0010c0029t0001g0120 others(2): Show a0010c0010t0001g0121 a0010c0010t0001g0122 a0010c0029t0001g0120 a0103c0099t0001g0040 a0119c0135t0013g0183	5	248	0.0202	-1776	c.347 others(9): Show c.3471_5246del	p.Ala others(15): Show p.Ala1158_Asp1749del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	5358/16756	3471/16239	1157/5412			chr3	TogoVar
SCGB2B2_chr19_34585644_34682159	34613201	TGATTCTC others(1768): Show TGATTCTCCTGCCTTAGCCTCCTGAGCAGCTGGGACAACAGGCACATGCC ACCATGCCCAGCTAATTTTTGTATATTCAGTAGAGATGGGTTTCACCATG TTGGCCCAGCTGGTCTCAAAACTCCTGACCTCAAGTGATCTGTCCCCCTT GGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGGGCCTGGCCAT CATCTCTTCATTTTCAATTGGTATATATCTTTATAGGTGAAGTGAGTTTC TTGTAAGCAGCATATTTTTGAGTCATTTAAAAAATATCAATTCAGACAGT TTCTATCTTTTAAGTGGGGAATTTAGTCTGTTTTCACTCAGAGTTATTGA TAAGTGAGGACATATTCTTGTGATTTTGTTAACTGTTTTCTGAGTGTTGT GTATATCCTTTGTTGTTTTCTTCCTCTGTCATTGTTTGTCATTGCACTTT GGTGGATTTCTGTAGTGATAACCTTTGATTCCTTTCTTTTTCTCCTTTAT GTATCTGCCCCACCCATAAGTTTTACACTTTTGTGTGTTTTCATGATAGT GATTATTATCTTTTTGCCTCCAGATGTAGTACTTCTTTGAGTATTTCTTT TTAAGCCTGTCTGATGGTGTTTAATGTCCTTAGAGTTTCTTTTGTGGAAA AAATGTTATTACTCTCTCATTTCTGAAGCATAGCTTTGCTCTGTATAGTA TTCTTGCTGGACAAGTTTTTTCTGTCAGCACTTTGAATATATTATCCCAT ACTCTCCTGGCCTGTAAAGTTTCTGTGAAGAAAATTGCTATTGGTCTACT GGCAATTTCTTTATATGTGACTTGACGCTTTTGCTGTTTTTAGAATTCTC CCTCCTTCTTTGACTTTTGATAATTTGACTGTAATGTGCCACTGGGAGGA ACTTTCAGCTGAATCTTTTTTGGGGCCTTGGATCTAGATGTCCATTCTCT CTCCAGACTTGAGATTTTTTTGCAATTATTTCATTAAGTCAGTTTTCTAT GCCTTTTCTCTTCTCTTTTCCTTCTGGGACTTCTGAGTTCCAACATTTAT TCACCTAGTGGTGTTGCATAAGTTTTATAACTTTTTTTTTCACTGTTTTT CACTCTTATATCTTAATTTTTCTGTAATTGGGTAATTTTAAGTGACCTAT ATTTAAGTTCAGAGATTCTTTCTTCTGCTCGATCAAGTCTGCTATTGACA CTGTCCATTTTATTTTTTAAATTTCATTCATTGAATTCTTCAGTTGCAGG ATTTCTGTTTTTTAATTATTATTCCTATCGCTATTGAATTTCTGATTCAT ATCATAAAGTTTATCTGATTTTATTGAATTGTGTCTGTATTTTCTTTTAT CTTGTCGAGTTTCCTTAAGATTAGTAGTTTGAATTCCTTTTCCATAGGTC ATTTATTTCCTTTTCATTGATGTCTTTTACCAGCAAGTTATTATGTTCTT TTGGTAATGTCATATTTCCTTGCTTTTAAATGTTTCTTTTGGCACTTCAG TGTTATCTGTACATCTGGTGGAACAATTGCTTCTTTCAAACTTTTTAGAG TTGCTTTCATAAAGTAAGACTTTCCCCTCCAGTTGGATATTCTTGTGCCA GTTGGCAAGAAATTGGTGACTGTTTCCAAATTAGTATAGTGGTATGGTCT ACATGTAGTTTCCTTATCTGTGTTGAATGTTATCAATAACTATGAGTGAC CCCATGGCCTAGACTGCAGATGTTTGTGACAGTGGTTGCTTAGGTTGTTA GCATCATTGGTCAAGGCTTTGGGGGC	T T	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0068 a0001c0001t0019g0068	1	368	0.0027	-1775	c.-20 others(23): Show c.-2031-18382_-2031-16608del		SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3						chr19	TogoVar
UQCRH_chr1_46298698_46321776	46320001	GTGTTAGC others(1768): Show GTGTTAGCCAGGGTGGTCTCAATCTCCTGACCTCGTGATCCACCCACCTT GGCCTCCCAAAGTGCTGGTATTACAGGGGTGAGCCACCGCGCCTGGCCCC AAATCTCATTTCAAATTGTAATCCCCAGGTGTCAAAGGAGGGACCTGGTG GGAGATGACTGGATCATGGGGGTGGTTTCCCCCATGCTATTCACATGATA GTGAATGAGTTCTCATGAGATCTGATGGTTTAAAAGATTTTGACAGTCCC CCCCCATCTCATTGCCAGCTCCTCTCTGACCCCGCTGCTGCTATGTGTGG GGAAAAGAAAGAGGGATCAGATTGTTACTGTGTCTGTGTAGAAAGAAGTA GACATAGGAGACTCCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTT GAGATGCTGTTAATCTGTAACCTTACCCCCAACCCTGTGCTCTCTGAAAC ATGTGCTGTGTCAACTCAGGGTTAAATGGATTAAGGGCTGTGCAAGATGT GCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCCTTAAGAGTCATCAC CACTCCCTAATCTCAAGTACCCAGGCAAACACTGCGGAAGGCTTCAGGGA CCTCTGCCTAGGAAAGCCAGGTATTGTCCAAGGTTTCTCCCCATGTGATA GTCTGAAATATGGCCTCGTGGGAAGGGAGAGACCTGACCATCCCCCAGCC CGACACCCGTAAAGGGTCTGTGCTGAGGAGAATTAGTAAAAGAGGAGGGA ATGCCTCTTTGCAGTTGAGACAAGAGGAAGGCATCTCTCTCCTGCGCGTC CCTGGGCAATGGAATGTCTCAGTGTAAAACCCAATTGTATATTCCATCTA CTGAGATAGGGGAAAACCGCCTCAGGGGTGGAGGTGGGACATGCGGTGGG CAATACTGCTCTTTAAGGCATTGAGATGTTTATGTGTATGCATATCTAAA GCACAGCACTTAATTCTTTACCTTGTCTATGATGCAGAGACCTTTGTTCA CCTGTTTATCTGCTGACCTTCTCTCCACTATTATCCTATGACCCTGCCAC ATCCCCCTCTCTGAGAGAGAAACACCCAAGAATGATCAATAAATACTAAG GGAACTCAGAGGCTGGCAGGATCCTCCATATGCTGAACGCTGGTCCCCTG GGCCCCCTTATTTCTTTCTCTATACTTTGTCTCCGTGTCTTTTTCTTTTC CAAGTCTCTTGTTCCACCTAACGAGAAACACACACAGGTGTGGAGGGGCA ACCCGCCCCTTCAGCTATGTAAGATGTATCTTGTTTCCCCTTTGCCTTCC CACATGATTGAAAGTTCCTGAGGCCTTCCCAGCCATGTGGAACTGAGTTA ATTAAGCCTCTTGTGTTTATAAATTACTCAGTCTCAAGTAGGTTTTTTGC GAAGAGGCGCGGTGGTTCACGCTTGTAATCCAGCCTGGGCAACAGAGTGA AACACTGTCTTGAAAAAAAAAAAAAAATTCAAATGTACACCAAGGGTGAA ATTTTGCAGTGAACATCCCTAAACCCATCACCCAGATTTTAGTAAATGTT TACTGATTGGTTTGGCTCTGTGTCCCCCGCCAAATCTCATCTTGTAGCTG CCATAATTCCCATGCGTTGTGGGAGGGACCTGGTGGGAGATGATTGAATC AGTGGGGCAGGTCCTTCTTGTGTTGTTCTTGTGATAGCGAATGGGTCTCA CGAGATCTGATGGTTTTAAAAACAGGAGTTTCCCTGCACAAGCCCTTTTT GCATGCTGCCATCCACGTAAGATGTG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	432	0.0023	-1775	c.34 others(11): Show c.3418_*5192del		UQCRH	ENSG00000173660.12	transcript	ENST00000311672.10	protein_coding					3226		chr1	TogoVar

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