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
COMMD7_chr20_32697699_32748467	32723063	TAAAGACT others(1892): Show TAAAGACTTGTGATCCTCTCCCTCTCCCTCTCCCTCTCCGTCTCCCTCTC CCTCTCCCTCTCCCTCCCTCTCCGTCTCCGTCTCCGTCTCCGTCTCCCTC TCCCTCTCCCCACGGTCTCCCTCTCATGCGGAGCCGAAGCTGGACTGTAC TGCTGCCATCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCA GCCTGCCGAGTGCCTGCGATTGCAGGCACGCGCCGCCACGCCTGACTGGT TTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCCGGTCTCCAGCCCC TAACCGCGAGTGATCCGCCAACCTCGGCCTCCCGAGGTGCCGGGATTGCA GACGGAGTCTGGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAG TGGCGTGATCTCGGCTCACTACAACCTCCACCTCCCAGCCGCCTGCCTTG GCCTCCCAAAGTGCCGAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCT GGGAAGTGAGGAGTGTCTCTGCCTGGCCGCCCATCGTCTGGGATGTGAGG AGCCCCTCTGCCCGGCCGCCCAGTCTGGGAAGTGAGGAGCGTCTCCGCCC GGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTTCCCAGCCGCCATC ACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGAT GTGGGGAGCGCCTCTGCCCCACCGCCCCATCTGGGATGTGAGGAGCGCCT CTGCCCGGCCGAGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCC GCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAACCACCCCGTCTG AGAAGTGAGGAGCCCCTCCGCCCGGCAGCTGCCCCGTCTGAGAAGTGAGG AGCCTCTCCGCCCAGCAGCCACCCCATCTGGGAAGTGAGGAGCATCTCCG CCCGGCAGCCACCCTGTCCGGGAGGGAGGTGAGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCC CGGCCAGCCGTGCCATCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCGGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGTCAGCCCCCCGACCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGCCCAGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACG GGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGGCGGGAAAGGTGG GGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTA GACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGCC TTGGGATCCTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAA ACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGAT GTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATC ACCAATCCCTAATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCG CAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCT GCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTG TGAGAAACACCCAAGAATTATCAATAAAAAAATAAATTTAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(68): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00639.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01358.hp2 HG01361.hp1 HG01993.hp2 HG02040.hp2 HG02148.hp1 HG02300.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02735.hp1 HG02809.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG04115.hp2 HG04228.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18956.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18965.hp2 NA18967.hp1 NA18970.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18986.hp1 NA18988.hp1 NA19005.hp1 NA19043.hp1 NA19054.hp2 NA19058.hp2 NA19062.hp1 NA19064.hp1 NA19079.hp1 NA19085.hp1 NA19085.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(55): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0128 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0257 a0001c0001t0001g0268 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0318 a0001c0001t0001g0326 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0345 a0001c0001t0001g0349 a0001c0001t0001g0352 a0001c0001t0001g0360	71	240	0.2958	-1899	c.241 others(17): Show c.241+2931_241+4829del		COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	3/8						chr20	TogoVar
MXI1_chr10_110202605_110292365	110249682	GGAAGAAA others(1892): Show GGAAGAAAATACCAAAGTACACTGCATGAAGTAAAGTTAAATATGGAATT GTGAAACCTGTGTATACTGGATTATGATATAAAATACTGTGGGTCATAGT CAAAACCTACTACTCTGGATATAAGCTTCTCTGAGTTATGATAAAAAACA TAATTATTTTTATTGGAGCAAATGCAGTGAGATTTGGAGTAGGTGATTTT AAATTGCTGGTGAATGGCTAAGTAATTCCAGATAGCTATCTCAAACAAAA CCGTGAGATTGTTGAAGCCCTGGGGTCTGGCCTTAAGGAGATAATAGCCA CCAAATGTTGAGGTTCATACTACCAGATCTCCGAGGGAAGCCTAATGGTG GAGATTTGGGTTTTGGCAGGCCCAGAGTAGTTGGTTGTGATCCACAATTA CCCCAGGATTCCCATAGCCCATTAGGGAGCTCTAGGTAGTTTCAGGACTG ATAGAGAAATTCAGATTTTTTTCTTGGATAGGTCTTGGGAGCTGATATCT GCCCAAATCCTTGTTGGTTATACTGAGTATGCTCTAGATGGTTCAGAGCA TTTGTTACCTATGTACCAACCCTGTCCCCCTAGGCCCACAACAGGTCATA ATAGGCCTAGGAGATGGAGGGGAAGCAAAATACTTCAGTTGTTCTGCATT CCTCAGGAACCTATGTGAATCATCTCATGGTAAACTTAATGAGACTTTGA GATTGAAGAATTAAGATATTACTTTGCCCATTGGCTTATCTTACAGTTTG GGTCCTTTGCCAGATAAGACACAATTCAGTATCAGTACAGATTTTAGATT GCCTCATTGTTTTTTCATTTTCTTAATTCAAATTGCTGATGATGTTTTAG AAAGAATCAACAACTTTGGCCAGGCATGGTGGCTCATGCCTGTAATCCCA ACACTTTTGGGAGGCTGAGGCAGGTGGATTGCTTGAGGCCAGGAGTTTGA GACTAGCAGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAA ATTAGCCAGGCATGGTGGTGCATCCTTGTAATCCCAACTTCTTGGGAGGC TGAGGCACAAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAATGAGCCA AGATCACACCACTGCATTCCAGCCTCAGTGACAGAGCAAGACTTTGTCAA AAAAAAAAAAAAAAAAATAACAACTTTAACAGGACTCTGATGGTCAAGAA CCTTAGTGCTGACTGCAGGAGAGGCCATTTAACCTTAAATAGCTGTTATT CCATCAAAACAAAAGGCTTATCCTTATTATAACTTTGGCAAAGCTAGAAG GGCCAAGGAGAAGTGACTAAGTATTTGTTAAAAAAAAAAAAAAAAAAAAA AAAAAGAGAAGGATGTCTAGTGAGTAGTAATAGGTATTCTCCATATAAGG ACTTTCACCTACCTCTGAGGGAAAATTGGAAATTAGCATTTATAGAGTTC TTACTGTGTTCCTCCACTGTGCAAGGCTATTACATAATTCTGTAAGGTAG AAAGGCAGAAAGTTTGAGTCAAAGTGTCAAAAACTGGCCATTTTATCATC ATAGCTACAATTTGAAACAAGATGGATACAAACACAAAACAGTTCTAATC ATGATCCTTTTTGATCATGAATATGAGAGTTACGGTTAATATCAATCTTT CAGCAACAATTAATAAATACCATGTGTGGCATCATGATAGATCAAATGAA GTATAAGATACCCTATTCTATTCTAGTTAAGGTTAAGGTCATTATAGTTT GGTATTTATATTTCACCTTTCAGTACCATTATCTAGTTAAGTTACCAGTA AATGTCTAGAAAGGTACACTAATAGTGTTTTTCATACTGAAAAATGAAAC TCACTAGTGGTCTATGTGATCATTTAGTGAATCATTTTGAAAAAGAAATT	G G	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	370	0.0027	-1899	c.437 others(17): Show c.437+4862_437+6760del		MXI1	ENSG00000119950.21	transcript	ENST00000332674.9	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr10	TogoVar
PIK3R6_chr17_8797722_8872674	8810045	TTTTCACA others(1892): Show TTTTCACACTGCTGATAAAGACATACCTGAGACTGGGAAATTTACAAAAG AAAGAGGTTTAATGGACTTACAGTTCCACATGGCTGGGGAGGCCTCACAA TCATGGAAGAAGGCAAAGGAGGAGCAAAGTCACGTCTAACATGGATGGCA GCAGGCAAAAAGAGAGCTTGTGCAGGGAAACTCCTTCTTATATCACCATC AGATGTCATGAGACTTACCCACTATCACGAGAACAGCATGGGAAAGACCT GTCCCCATGATTCAATTACCTCCCACCAGGCCCCTCCCACAACATGTGGG AATGCAAGATCAGATTTGGGTAGGGACACAGCCAAACCACATCATTCCAC TGCTGGCGCCTCCCAAATCTCATGTCCTCACATTTCAAAACCAATCATGC CTTCCCAACAGTCCCCTGTCTTAACTCATTTCAGCATTTACTGAAAAGTC CACAGTCCAAAGTCCAAAGTCTTATTTGAGACAAGGCAAGTCCCTTCTGC TTATGAGCCTGTAAAATCAAAAGCAAGTTAGTTACTTCCTAGATACAACA GGGGTACAGGCATTGAGTGAAAACAGCCATTCCAAATGGAAGAAGTTGGC CAAAACAAAGGGGCTACAGGCCCCATGCAAGTCTGAAGTCCAGAAGGGGA GTCAAATCTTAAACCTCCAAAATGATCTCCTTTGACTCCATGTCTCACAT CCAGGTCACACTGTTGTGAGAGGTGGGTTCCCATGGTCTTGGACAGCTCT GCCCCTATGGCTTTGCAGGGTTCTGCCTCCCTCCCAGCTGCTTTTATGGG CTGGCGTTGAGTGTCTGCAGCTTTTCTAGGCACACGTGCAAGCTGTCAGT GGATCTATCATTCTGGGTCTGGAGGATGGTGGCCCTCTTCTCACAGCTCC TAGCCCCAGCAGGGACTCTGCATGGGGGCTCTGACCCCACATTTCCCTTC TGCACTGCCCTAGCAGAGGTTTTCTATGAGGGCCTTGCCCCTGCAGCAAA CTTCTGCCTGGGCATTCAGGCATTTCCATATATCCTCTGAAATCTAGATG GAGGTTCTCAAACCCTAATTCTTGACTTCTGTGCACTTGCAGGCTCAACA CCACATGAAAGCTGCCAAGCCTTAGGGCTCGCACCCTCTAAAGCCATGGC CCGAGCTCTACATTGGTCCCTTTCAGCCATGGCTGGAGCAGCTGGGATGC AGGACACCAAGTCTCTAGGCTGCACACAGCACGGGTACCCTGGGCCCAGC CCATGAAACCATTTTTTCCTCCTAGGTCTCAGGGTCTGTGATGGGAGAGG CTGCTGTGAAGACCTCTGACATGCCCTGGAGACATTTTCCCCATTGTCTT GGGGATTAACATTTGGCTCCTCATTGCTTATGCAAATTTCTACAGCCAGC CTGAATTTCTCCTCAAAAAATGGGATTTTCTTTTCTATTGCATTGTCAGG TTGCAAATTTTCCAAACTCTTATGCTCTGCTTCCCTTATAAAACTGAATG CCTTTAACAGCACCCAAGTCACCTCTTGAATGCATTGCTGCTTAGAAGTT TCTTCTGCCAGATACCCTAAATCATATCTCTCAAGTTCAAAGTTCCACAA AAATGCCACCAGTTTTGCTAAAATATAAGAGTCACCTTTGCTCCAGTTCC CAACAAGTTCCTCATTTCCATCTGAGACCACCTTAGCCTGGACTTTATTG TCCATATCGCTATCAACATTTTGGGCAAAACCATTCAAAAAGTCTCTAGG AAGTTCCAAGCTTTCCCATTTTCCTGTCTTCTTCTGAGCCCTCCAAACTG TTCCAACCTCTGCCTGTTACCCAGTTCCAAAGTTGCTTCCACATTTTCAG GTATCTTTTCAGCAGCACCCCATTCTACTGGTACCAATTTACTCAATCCA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00544.hp1 others(80): Show HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00673.hp2 HG01175.hp2 HG01346.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG02056.hp1 HG02074.hp2 HG02135.hp2 HG02148.hp2 HG02273.hp1 HG02559.hp2 HG02602.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02922.hp1 HG03017.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 NA18612.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18951.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18969.hp2 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18989.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA19000.hp2 NA19002.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19030.hp2 NA19058.hp1 NA19058.hp2 NA19070.hp2 NA19079.hp1 NA19082.hp1 NA19085.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA20129.hp1 NA20300.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0013	a0001c0001 a0002c0003 a0003c0012 others(6): Show a0001c0001 a0002c0003 a0003c0012 a0004c0006 a0006c0009 a0007c0007 a0008c0016 a0009c0021 a0013c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0002c0003t0001 a0003c0012t0001 a0004c0006t0001 a0006c0009t0001 a0007c0007t0002 a0008c0016t0001 a0009c0021t0001 a0013c0022t0001	a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0037 others(79): Show a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0207 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0269 a0001c0001t0001g0278 a0001c0001t0001g0293 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0306 a0001c0001t0001g0314 a0001c0001t0001g0321 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0334 a0001c0001t0001g0340 a0001c0001t0002g0001 a0001c0001t0002g0064 a0001c0001t0002g0075 a0001c0001t0002g0088 a0001c0001t0002g0105 a0001c0001t0002g0149 a0001c0001t0002g0180 a0001c0001t0002g0204 a0001c0001t0002g0254 a0001c0001t0002g0288 a0001c0001t0002g0348 a0001c0001t0008g0157 a0002c0003t0001g0304 a0003c0012t0001g0024 a0004c0006t0001g0015 a0006c0009t0001g0305 a0007c0007t0002g0221 a0007c0007t0002g0222 a0008c0016t0001g0095 a0009c0021t0001g0084 a0013c0022t0001g0285	83	352	0.2358	-1899	c.199 others(19): Show c.1995+7139_1996-5893del		PIK3R6	ENSG00000276231.5	transcript	ENST00000619866.5	protein_coding	18/19						chr17	TogoVar
CACNA1B_chr9_137872782_138129619	137888930	CGGCTCAG others(1891): Show CGGCTCAGGGATGACCTGACGCTGTGTCTGAAAACAGGTGACAGCCCAGA GACGCTGCCTTCCCGCAAGGCGACCTGACGCTGTGTCTGAACACAGGTGA CAGCCCAGAGACGCTGCCTTCCCGCAAGGCGACCTGACGCTGTGTCTGAA CACAGGTGACAGCCCAGAGACGCTGCCTTCCCACAAGGCGACCTGACACT GTGTCTGAACACAGGTGACAAGAGACACTGTGCCCGAGGGGCCAGGACAC GTTGGAGCATGGACCGAGCTGGGTGTGTCCGTGCTGTGACGGAACTCTTC TGCCACAGGCTCTGCTTCAGCCTGGGGTCCTTGGACTGCAGCCCTGCGGG AGGTGCAGCACCCCGACCTCCAGTGCCGGGTCGGGCTGGGGTTTGCCAGA CATTCTCTCCCTTTCCCTACCAGAGTCTGGAAATGGCCTTTGTAGGCCCT GACCCTCCCTCCCTCACCCCTAGTGTGGCTGGAACCGGTGGAGCGGGGGC TGAGTTCTGACAAGTCCCTGGAAAGCAGGGAGAGCCCCCGTGTTCTGGGG CTGGGGCTGGGATCACTCCAGGCATTGCCTGACTGGGGGCTCCACAGCCC CCCTCGTGTCAGTGAGAACCCACCAACTCCACCCCACAATGCAGGGCCCT GGCCCACGTGCAGTCCATGTGGTGTGGCTGTGAGGACCAGGTGGGGCGGT GGCGGGTGGCTGCTGATCTAGGACCCTGTGACCAAGCTCTGGTGCCCCTT CCTGACAGTGGCCTCCCATCGGGCCTCCATGTCCGTGGGGACAGGCCTGG CAGCCATGCTGGGGATGTAACAGCCTGAGAAGGTGCTGCTCTGATAGGGT GGGATCCTGGCCCCCTCTTCAGCACACGCCCCTGGCTGGGTCCTTATGGA GGGCCTGGCCCATGCCCCCGCTCTCTTTCTCTGTGTCTCCCCCCTCCCTC TCTGCCTCCTTCCTGCATTTCAGGGTTCTTAACACTCTCCTGGACTGGGG GGCAGAACTGGGCCCACTGAGAGCCCCCAGGGTCCCCTGATTCTGTGCGG GGTGAGGGTCCACACTGCCCGGGCATGAGACCTGGGGCTTGGCTGTGCTG TGCTTGGGAGGCTGACCCTGGCCTTGGGCTCCAGTCCTGTGGGGTCTTCT CTGGGGTCTCCGCGTCTCCATGTGTGCTCTGCTGCCTGAGGAGCCCAAAT CCAGAGACTCCCTGGATAGAAGCAGCGCGGGGCTGGCTCACTGGATGGGC ATCGGGCCAGCGTTGCAGACGTCTGGGGCCTCTCATATGCCCGCCTGGCA TAGCCGACCCAAGGGAGGGTTGGCCTCTCTGCGGATCTTTCACCATGGGG ACTGGAGAGCTGAAGGAGCCCAGGGCTGCCCTTGGATACCGCAGACTTTC CCAGGGGGACGGGGGACATGGGTGGGAGATAAGGAAGGGAGGTTTCAGCT CAACCCAGAGAAGGACTTTCATCATTCATGGGGGTCTGGGCTGCTGTCCT CAGGCAAGTGGGGACTGGACCAGGTGGTCTGTCCTTTACTCATATGTCCC TGATATGGGCCAGGTACTTGCTGGGCACGATGGAGCCAGGGCCCTTCCCC CCAGGGTGCGTGTTCTGCCAACGGCAAAGTCCCCATGCCACAGGATCCAC TCTGTGCTCCAGGCCTCTCCTCTCGACGGTGACTGCAGGCCGGGCTCCAG GGATGGGCGGTTCTGCAGGTGTGCAGAGTCCCCCTTACGCAGGTGTGCAC AGAGTCCCCCTTACACGCCTTTCTCTTCAGGGGTCCCACCAGGAGGGTCA GTCGGAGGCTTGATTTCCTGCCCCAGCAGCTGGAGGGGTGGGGGTCCAGG GAGAGTGTGGTGGGGACAGTGAGCGGCAGAGCTGGAGGCCGTGAGGCTG	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01515.hp1 HG03017.hp1 HG01099.hp2 HG01515.hp1 HG03017.hp1	a0002 a0002	a0002c0004 a0002c0020 a0002c0004 a0002c0020	a0002c0004t0001 a0002c0020t0002 a0002c0004t0001 a0002c0020t0002	a0002c0004t0001g0018 a0002c0004t0001g0019 a0002c0020t0002g0014 a0002c0004t0001g0018 a0002c0004t0001g0019 a0002c0020t0002g0014	3	246	0.0122	-1898	c.530 others(17): Show c.530+6050_530+7947del		CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	3/46					INFO_REALIGN_3_PRIME	chr9	TogoVar
COMMD7_chr20_32697699_32748467	32723063	TAAAGACT others(1889): Show TAAAGACTTGTGATCCTCTCCCTCTCCCTCTCCCTCTCCGTCTCCCTCTC CCTCTCCCTCTCCCTCCCTCTCCGTCTCCGTCTCCGTCTCCGTCTCCCTC TCCCTCTCCCCACGGTCTCCCTCTCATGCGGAGCCGAAGCTGGACTGTAC TGCTGCCATCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCA GCCTGCCGAGTGCCTGCGATTGCAGGCACGCGCCGCCACGCCTGACTGGT TTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCCGGTCTCCAGCCCC TAACCGCGAGTGATCCGCCAACCTCGGCCTCCCGAGGTGCCGGGATTGCA GACGGAGTCTGGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAG TGGCGTGATCTCGGCTCACTACAACCTCCACCTCCCAGCCGCCTGCCTTG GCCTCCCAAAGTGCCGAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCT GGGAAGTGAGGAGTGTCTCTGCCTGGCCGCCCATCGTCTGGGATGTGAGG AGCCCCTCTGCCCGGCCGCCCAGTCTGGGAAGTGAGGAGCGTCTCCGCCC GGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTTCCCAGCCGCCATC ACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGAT GTGGGGAGCGCCTCTGCCCCACCGCCCCATCTGGGATGTGAGGAGCGCCT CTGCCCGGCCGAGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCC GCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAACCACCCCGTCTG AGAAGTGAGGAGCCCCTCCGCCCGGCAGCTGCCCCGTCTGAGAAGTGAGG AGCCTCTCCGCCCAGCAGCCACCCCATCTGGGAAGTGAGGAGCATCTCCG CCCGGCAGCCACCCTGTCCGGGAGGGAGGTGAGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCC CGGCCAGCCGTGCCATCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCGGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGTCAGCCCCCCGACCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGCCCAGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACG GGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGGCGGGAAAGGTGG GGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTA GACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGCC TTGGGATCCTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAA ACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGAT GTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATC ACCAATCCCTAATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCG CAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCT GCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTG TGAGAAACACCCAAGAATTATCAATAAAAAAATAAATTTAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01934.hp2 HG02258.hp2 others(8): Show HG01891.hp1 HG01934.hp2 HG02258.hp2 HG02572.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02976.hp2 NA18906.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0014 a0001c0001t0001g0124 a0001c0001t0001g0136 others(7): Show a0001c0001t0001g0014 a0001c0001t0001g0124 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0146 a0001c0001t0001g0293 a0001c0001t0001g0351 a0001c0001t0001g0354 a0001c0001t0001g0357 a0001c0001t0002g0123	11	180	0.0611	-1896	c.241 others(17): Show c.241+2934_241+4829del		COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	3/8						chr20	TogoVar
ADARB2_chr10_1172313_1742525	1540486	AGTTCAGA others(1888): Show AGTTCAGACCCTGGATCACAGCCGCCCAGACCCCACTCAGACGTAGTTCA GACCCTGGATCACAGCCGTCCAGACCCCACTCAGATGTAGTTCAGACCCT GGATCCGTCCAGACCCCACTCAGACGCAGTTCGGACCCTGGATCACAGCC GTCCAGACCCCACTCAGACGCAGTTTGGACCCTGGATCACAGCCGTCCAG ACCCCACTCAGACGCAGTTCGGACTCTGGATCCGTCCAGATCCCACTCAG ACGTAGTTCAGACCCTGGATCACAGCCATCCAGACCCCACTCAGATGTAG TTCAGACCCTGGATCACAGCCATCCAGACCCCACTCAGATGTAGTTCAGA CCCTGGATCCGTCCAGACCCCACTCAGACGTAGTTCAGACCCTGGATCAC AGCCGTCCAGACCCCACTCAGATGTAGTTCAGACCCTGGATCCGTCCAGA CCCCACTCAGACGCAGTTCAGACCCTGGATCACAGCCGTCCAGACTCCAC TCAGACTCAGTTCAGACCCTGGATCACAGCCGTCCAGACCCCACTCAGAC GCAGTTCAGACCCTGGATCACAGCCGCCCAGACCCCACTCAGATGTAGTT CAGACCCTGGATCACAGCCGTCCAGACCCCACTCAGACGCAGTTCAGACC CTGGATCACAGCCGTCCAGACCCCACTCACACTCAGTTCAGACCCTGGAT CACAGCCGCCCAGACCCCACTCAGACGCAGTTCAGACCCTGGATCACAGC CGCCCAGACCCCACTCAGACGCAGTTCAGACCCTGGATCACAGCCGCCCA GACCCCACTCAGACGCAGTTCAGACCCTGGATCACAGCCGTCCAGACCCC ACTCAGACGCAGTTCGGACCCTGGATCACAGCCGCCCAGACCCCACTCAG ACGCAGTTCAGACCCTGGATCCGTCCAGACCCCACTCAGACGCAGTTCGG ACCCTGGATCACAGCCGTCCAGACCCCACTCAGACGCAGTTCAGACCCTG GATCACAGCCGTCCAGACCCCACTCAGACGCAGTTCGGACCCTGGATCAC AGCCGTCCAGACCCCACTCAGACGCAGTTCGGACCCTGGATCACAGCCGC CCAGACCCCACTCAGACGCAGTTCAGACCCTGGATCCGTCCAGACCCCAC TCAGACGCAGTTCGGACCCTGGATCACAGCCGCCCAGACCCCACTCAGAC GCAGTTCAGACCCTGGATCCGTCCAGACCCCACTCAGACGTAGTTCAGAC CCTGGATCACAGCCGTCCAGACCCCACTCAGACGCAGTTCGGACCCTGGA TCACAGCCGCCCAGACCGCACTCAGATGTAGTTCAGACCCTGGATCACAG CCGTCCAGACCCCACTCAGACGCAGTTCAGACCCTGGATCACAGCCGCCC AGACCGCACTCAGATGTAGTTCAGACCCTGGATCACAGCCGTCCAGACCC CACTCAGACGCAGTTCAGACCCTGGATCACAGCCGTCCAGACTCCACTCA GACGTAGTTCAGACCCTGGATCACAGCCGTCCAGACCCCACTCAGACTCA GTTCAGACCCTGGATCCGTCCAGACCCCACTCACACTCAGTTCAGACCCT GGATCACAGCCGCCCAGACCCCACTCAGACGCAGTTCAGACCCTGGATCA CAGCCGTCCAGACCCCACTCAGACGTAGTTCAGACCCTGGATCACAGCCG CCCAGACCACACTCAGATATAGTTCAGACCCTGGATCACAGCCGTCCAGA CCCCACTCAGACGCAGTTCAGACCCTGGATCACAGCCGCCCAGACCGCAC TCAGATGTAGTTCAGACCCTGGATCACAGCCGTCCAGACCCCACTCAGAC GCAGTTCAGACCCTGGATCACAGCCGTCCAGACTCCACTCAGACTC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0026 a0001c0001t0011g0026	1	102	0.0098	-1895	c.101 others(21): Show c.101-163221_101-161327del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
LLPH_chr12_66111555_66135750	66133855	TGAAAATG others(1888): Show TGAAAATGGTATTAATAGCGTGCAAAAATGTAAGGGGGCCTCTCCCTCTC CCTCTCCCTCTCCGTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCAC TCTCCCCACGGTCTCCCTCTCATGCGGAGCCGAAGCTGGACTGTACTGCT GCCATCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCT GCCGAGTGCCTGCGATTGCAGGCACGCGCCGCCACACCTGACTGGTCTTG GTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCCGGTCTCCAGCCCCTGAC CGCGAGTGATCCGCCAGCCTTGGCCTCCCGAGGTGCCAGGATTGCAGACG GAGTCTCGTTCACTCAGTGCTCAATGGTGCCCAGACTGGAGTGCAGTGGC GTGATCTCGGCTCGCTACGGCCTACACCTCCCAGCCGCCTGCCTTGGCCT CCCACGGTGCCGAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCTGGGA AGTGAGGAGCGTCTCTGCCTGGCTGCCCATCGTCTGGGATGTGAGGAGCC TCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTGCGCCCGGCC GCCATCCCATCTAGGAAGTGAGGAGCGCCTCTTCCCAGCCGCCATCACAT CTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGG GGAGCGCCTCTGCCCCGCCGCCCCATCTGGGATGTGAGGAGTGCCTCTGC CCGGCCGAGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCCGCCC CGTGTGAGAAGTGAGGAGACCCTCTGCCTGGCAACCACCCCGTCTGAGAA GTGAGGAGCCCCTCCGCCCGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCC TCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCGTCTCTGCCCG GCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCTGCCCGGCC AGCCGCCCCATCCGGGAGGGAGGTCGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCACCCCTACTGG GAAGTGAGGAGCCCCTCAGCCTGGCCAGCTGCCCTGTCCGGGAGGGAGGT GGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCAG CCAGCCGCCCTGTCCAGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGC CAGCTGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTTTGCCCGGCCAGCCGCCCAGTCTGGGAGGGA GGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCTGCCCCGTCCGGGAGGTGA GGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCC GCCCGGCCAGCTGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCACCACCCCGTCTGG GAGGTGTGCCCAACAGCTCATTGAGAACGGGCCATGATGACAATGGCGGT TTTGTGGAATAGAAAAGGGGGAAAGGTGGGGAAAAGATTGAGAAATCGGA TGGTTGCTGTGTCTGTGTAGAAAGAAGTAGACATGGGAGACTTTTCATTT TGTTCTGCACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(233): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01192.hp2 HG01243.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01952.hp1 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(52): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0067 a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0076 a0001c0001t0078 a0001c0001t0079 a0002c0002t0006 a0002c0002t0025 a0002c0002t0065 a0002c0002t0068	a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0027 others(75): Show a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0113 a0001c0001t0002g0002 a0001c0001t0002g0015 a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0005g0005 a0001c0001t0005g0070 a0001c0001t0005g0072 a0001c0001t0009g0014 a0001c0001t0009g0079 a0001c0001t0011g0016 a0001c0001t0011g0106 a0001c0001t0012g0025 a0001c0001t0012g0073 a0001c0001t0012g0078 a0001c0001t0013g0011 a0001c0001t0014g0012 a0001c0001t0016g0028 a0001c0001t0017g0029 a0001c0001t0020g0032 a0001c0001t0021g0031 a0001c0001t0022g0023 a0001c0001t0023g0068 a0001c0001t0023g0071 a0001c0001t0024g0024 a0001c0001t0028g0082 a0001c0001t0029g0103 a0001c0001t0030g0099 a0001c0001t0031g0092 a0001c0001t0032g0083 a0001c0001t0033g0100 a0001c0001t0034g0094 a0001c0001t0035g0084 a0001c0001t0036g0085 a0001c0001t0037g0086 a0001c0001t0038g0093 a0001c0001t0039g0087 a0001c0001t0040g0088 a0001c0001t0048g0107 a0001c0001t0049g0101 a0001c0001t0050g0105 a0001c0001t0051g0102 a0001c0001t0052g0056 a0001c0001t0054g0057 a0001c0001t0055g0058 a0001c0001t0056g0059 a0001c0001t0057g0069 a0001c0001t0058g0060 a0001c0001t0059g0061 a0001c0001t0060g0062 a0001c0001t0061g0063 a0001c0001t0062g0064 a0001c0001t0063g0104 a0001c0001t0067g0074 a0001c0001t0069g0065 a0001c0001t0071g0066 a0001c0001t0072g0089 a0001c0001t0073g0109 a0001c0001t0076g0075 a0001c0001t0078g0108 a0001c0001t0079g0067 a0002c0002t0006g0006 a0002c0002t0025g0033 a0002c0002t0065g0111 a0002c0002t0068g0112	236	362	0.6519	-1895	c.-50 others(11): Show c.-5053_-3159del		LLPH	ENSG00000139233.7	transcript	ENST00000266604.7	protein_coding					3106		chr12	TogoVar
AGR3_chr7_16854412_16886983	16856536	TAACTGGA others(1887): Show TAACTGGATGTCCTGTACTTTATGTGGCAACGCTGGACTTTATCTAATTA ATCCCTTTTGAATGTACAACTTTTTTGACTGTTATCTCTTTGAAATGCAA ATGAAAACTCTGAAAGCCTGCATTAAAATGCTTTGCACATAGAATTGTGC ATACTATTTCAGGTAGTTGATGTTGGTAACTTTTTTAAAATGTTGGCTGT GTTAGGGAAGGAATAATTTCTTAGAGGTTATAAGGGTAAAAACAAATGGA AGTAAAATTATACACATACACACACACATACACACACACACACCTATATG TATACACACACACACACACACACATTCACTAAGCATAGTCCTACATTTCC AAAGTAGGGGTAACCTAAGAAGGAATGGAATCCAAACAATTAATTTTATG AGAAGATGTGCGGTAGAAATATCAACTACAATATAGAAAGGTTTTTTTTT TTTTTTTAAACACGTTGTGGTCTCACTATGTTGCCCAAGCCAGAGTACAG TGGCTATTCATAGACTTGATCATAGCTCATTGCAGCCACAAACCCTTGGG CTAAAGTAATCCTCCTGCCTCAGCTTCCCCAGTAGCACATGCCACTGCAC CCAGCGAGGATTATAGAGTTTGTTAAAGTGGGTAGAGAAGGAAAACTAAA TTGGTTACAAGATTACAGTGACTAAAACTGATTATGGAATATTTATATGT AAAATATGTGCATATTAAATGTTGGCATACATATAATTATATGCATAATA AAATTATATGTATAACAACATAGAAATATATGCATATTAAAATATAAAGG TATATACATTTTCATTACAAAGAACAATTTATCATTTAGTAACATTTTTA TGCTAACTGAAGAAAGATAAGTGAATGTTCAATGTTATTTATTAATTCTT AAAAAAACTAAATTGTCAGCTGATCTCTTTTATAGTCCACTGCAAATAAC TGCTAACATGTTGTTCCTCTGAACTATTTATGCAACCATGGAATCAGCTA TATTTCTTTAGTCTTCATATGTTAAACTATTAAATCAGAGAATGCCAGTG CATTCTGATCTCTTAGCATTCATTAAAATAAAAGCTCTAGACTTTTATCT AAAAAATCAAAATAGGCTGTAATATAAAAATTAAAATAGGATATTTAATA TTCTTTTGTAAATAAATAGGATACATGGGTCTCTAGTACTGATAATCATG TAACCTATTTATATCCAAATAGATCAATTTACTACAAGCTTGCTTAAAAT TAACAGAATAGTGATCAAATAAGACCCAAAGGAAACCTTTTTTTCTCTGA CTCATCAAATGTTGAAATTACAGGTGTCTATATCATAGACATTGCATATC TATCTCATATAAAAGTATAGTTTTATATCACAAAGCAATTCAAATTTTGC TAAATGCAATAAAATCCTATGAGTTAGGAAAATTTTTGCCCATCTAAAAC ATTTTCTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCT GGAGTGCAATGGAACGATCTTGGCTCACTGAAACCTCCACCTCCCAGGTT CAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCT CACCACCATGCCTGGCTAATTTTCGTATTTTTAATAGAGATGGGGTTTCA CCATGTTGACCAGGGGCTAGTTAGTCTCGAACTCCTGACCTCAGGTGATC CTCCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGC ACCCAGCCTCTAAAATATTTTCTACCTTCTGATAATTACTCCCAGCTGAT TTTAGGATTTCTATTAGCAGGATTTTTTCTTCTTGTTGCTGTTATTTAAA TAAATAGAAGACATGGTATTAACTCTCTGGAGGCTTCCTGTAAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	456	0.0022	-1894	c.11 others(11): Show c.1152_*3045del		AGR3	ENSG00000173467.9	transcript	ENST00000310398.7	protein_coding					2875		chr7	TogoVar
ACAP3_chr1_1287391_1312930	1288243	GTCTCTGC others(1886): Show GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCG TCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTC CCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTC CCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTC CCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	293	0.0034	-1893	c.34 others(11): Show c.3428_*5320del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					4147		chr1	TogoVar
COMMD7_chr20_32697699_32748467	32723063	TAAAGACT others(1886): Show TAAAGACTTGTGATCCTCTCCCTCTCCCTCTCCCTCTCCGTCTCCCTCTC CCTCTCCCTCTCCCTCCCTCTCCGTCTCCGTCTCCGTCTCCGTCTCCCTC TCCCTCTCCCCACGGTCTCCCTCTCATGCGGAGCCGAAGCTGGACTGTAC TGCTGCCATCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCA GCCTGCCGAGTGCCTGCGATTGCAGGCACGCGCCGCCACGCCTGACTGGT TTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCCGGTCTCCAGCCCC TAACCGCGAGTGATCCGCCAACCTCGGCCTCCCGAGGTGCCGGGATTGCA GACGGAGTCTGGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAG TGGCGTGATCTCGGCTCACTACAACCTCCACCTCCCAGCCGCCTGCCTTG GCCTCCCAAAGTGCCGAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCT GGGAAGTGAGGAGTGTCTCTGCCTGGCCGCCCATCGTCTGGGATGTGAGG AGCCCCTCTGCCCGGCCGCCCAGTCTGGGAAGTGAGGAGCGTCTCCGCCC GGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTTCCCAGCCGCCATC ACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGAT GTGGGGAGCGCCTCTGCCCCACCGCCCCATCTGGGATGTGAGGAGCGCCT CTGCCCGGCCGAGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCC GCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAACCACCCCGTCTG AGAAGTGAGGAGCCCCTCCGCCCGGCAGCTGCCCCGTCTGAGAAGTGAGG AGCCTCTCCGCCCAGCAGCCACCCCATCTGGGAAGTGAGGAGCATCTCCG CCCGGCAGCCACCCTGTCCGGGAGGGAGGTGAGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCC CGGCCAGCCGTGCCATCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCGGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGTCAGCCCCCCGACCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGCCCAGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACG GGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGGCGGGAAAGGTGG GGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTA GACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGCC TTGGGATCCTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAA ACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGAT GTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATC ACCAATCCCTAATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCG CAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCT GCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTG TGAGAAACACCCAAGAATTATCAATAAAAAAATAAATTTAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0353 a0001c0001t0001g0353	1	170	0.0059	-1893	c.241 others(17): Show c.241+2937_241+4829del		COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	3/8						chr20	TogoVar
FANCC_chr9_95094054_95322709	95274125	TCAACCCG others(1885): Show TCAACCCGTCATCTACGTTAGGTATTTCTTCTAATGATGTCCCTCCCCAA ATCCCTCACCCCCTGACAGACCCTGGTGTGTGATGTTCCCCTCCCTGTGT CCATGTGTTCTCACTGTTCAACTCCCATTTACGAGTGAGAACATGTGGTG TTTGGTTTTCTGTTCCTGTATTAGTTTGCTGAGAATGATCGTTTCCAGCT TTATCCATGTCCCTGCAAAGGACATGAACTCACCCTTTTTTATGGCTATA TAGTATTCCATGGTGTATATGTGCCACATTTTCTTTATCCAGTCTATCAT TGGATGGGCATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAACAGTGCT GCAATAAACATACATTTGCATGTGTCTTTATAGTAGAATGATTTATAATC CTTTGGGTATATACCCAGTAATGGGATTGCTGGGTCAAATGGTATTTCTG GTTCTAGATCCTTCAGGAATTTCCACACTGTCTTCCACAATGGTTGAACT AATTTACACTCCCACCAACAGTGTAAAAGCAAGGAACCATTTTTAAATTT CATTCTAGCTCCAGTGTCTAGAACAAAACCTTACTACTTTGGGCTTGTAC TGCCAGAAATTTATCATTTGTCCAGAAGTGTCTCCAAATTAGCAGACCAT CAAGGAAATCTCAAAAAATGAAATGGACTGATACACAGTATGGGCACTGA CTTGCCATTATTTGGGGAAGGGAAAGGAGGAAAGGGATAAGGGGAGGATA TCTGCAGTCCCTACATAGGTAGGAATTCTCTGAACTATGTATGATACAAG TTCAGCACAGGACTGGAATTAGAACCAGTTCCTCAAGTAATTTTTAAAAA TAAAAACAGGCCAGGCGTGGTGGCTCATGCTTGTAATCCCAGCACTTTGG GATTGCAAAGGCTGAGGCAGGAGGATTGCTTGAACCCAGGAGTTTGACAC CAGCCTAGGCAACATACCAAGACCCTGTCTCTACAAAAAAAAAAAAAAAA GAAAAATAAATTAGCCAGGCATGGTTGTGTGTACCTGTACTCCCAGATAC TCAGGAGGCTGTGGCAGGAGGATCACCTGAGCCTAGGAGGTAGATGTTGC AGTGAGCTATGATTGTGCCACCACACTCCTGCCTGGATAACAGAGCAAGA ACCTATCTCAAAAAAATAAATAAACAAAAAATAAAATAAAATAAAAACAG AAATTCCACTCGGGCAGGGGAGAGGGAAGAGTGAATAGGTAGAACACGGA GGATTTGTAGGGCCATAAAACTATTCTGTATGATACTATAATAGCGGACA CATGTATATCTGTCCAAACCCATAGAATGTACAACACCAAGAGTAAACTC TAATGTTAACTATGGACTTCAGGTGATAATGATGTATCAATGCATGTTCA TCAATTTTAACAAATGTACCACTCTGGTGGGGGATGTTGACAGTAGGGGG ATGTTATGCATGTGGGGGCATGGGGTATAGAGGAAATCTCTGTACTTTCT GCTCAATTTTGCTGTGAACCTAAAACTGCTCTAAAAAATAGTCTATTAAA ATCAACGACAACTACAAACCTTGGTGGCAGGAATAGGAGGAAGTGTAGCC AAACAGAACCCAAACCTAGCTAGGTGGTGCATGCCTGTAATCCCAGCTGC TCAGGAGGCTAAGGCAGAAGGATGGCCTGAGCCCAGGAGTTCAAATCCAG CCTGGGCAACTTCACAAGACCTCAGTCTCTAAAAAGAAAAAAAAGAATGC AAACCTACTCTACACACTCTGAGCATAAGGATCATAAATAGCAGGAGCAG AGAGAGAAGGCAAGAGTGGATCTCAGTTACACCTGGCAGGAGCCACAGGA CTCACACCCTGTCTAATAAAATTAATCAGTTCCCCCTGAATTA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	276	0.0036	-1892	c.-78 others(19): Show c.-78-26648_-78-24757del		FANCC	ENSG00000158169.14	transcript	ENST00000289081.8	protein_coding	1/14						chr9	TogoVar
GAL3ST2_chr2_241771822_241809287	241805520	CTCCCTCC others(1885): Show CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCC TCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCC TCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGAC CTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC AGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0072 a0005c0005t0001g0072	1	283	0.0035	-1892	c.13 others(11): Show c.1355_*3246del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1234		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805520	CTCCCTCC others(1885): Show CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCC TCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCC TCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGAC CTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC AGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	288	0.0035	-1892	c.-37 others(11): Show c.-3757_-1866del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3672		chr2	TogoVar
TRAP1_chr16_3653037_3722524	3702090	CCCAGCCT others(1885): Show CCCAGCCTGGGCGACACAGTGAGACTCCATCTCGGGCGGGGGAAAATATG AGGCTGTCACAAAAGTGCTAATGTTTTCCCTGCTGTCGATGTTGAGGTCA CTTGAAAGCTGGTATGGACACATCGGATGAGGAATTCAGTCTAGGGGCCT CTTAGGAGCCAAGGCCCAATGACTAGACTAAGTGGACCCAGCAAACACAG AGGGAGGGGGCCTGAGGCACAAACACAGACAAGGTCCTATGCTCGAGGCA AACAAGGACGAGGTACAAGGTGAGAGCCAGAAGGGGCCACTGTGCTGCTT CACAGACCTGGGAAGAAGTTTTTTGAGAAAAGACTTTCATTTTTCAAGAG GCAGATCATTTTAAAGAATAAGGCCTAGGGCAGTGGCTCACACCTGTAAT CCCAGCACTCTAGGAGGCTGAGGCAGGCAGATCGCTTGAGCCCAGGAGTT TGAGACCAGCATGGGCAAACTGGTGAAACCCCGTCCCTACCAAAAATACA AAAACTTAGGTGGACATGGTGACACGCACCTGTAGTTCCAGCTACTTGGG GTACTTGAGGCGGAAGGATCACTTGAGACCAGAGGGTAAAGGCTGCAGTG AGCCGAGATCACACCACTGCACTCTAGCCTGGGTGACAAAGTGAGACCCT GTCTTTAAGAGAAATTTAAAAAGCTGGGTGCGGTGGCTCACACCTGTAAT CCTGGCACTTTGGGAGGCTGTGGTAGGCGGATCACCTGAGGTTGGGAGTT TGAGACCAGCCTGACCAACATGGAGAAACTCCATCTCTACTAAAAATACA AAATTAGCCAGGTGTTGTCGTGGATGCCTGTAATCCCAGCTACTTGGGAG GCCGAGGTAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGTGGTAAGC CAAGATGCTGCCATTGCACTCCAGCCTGGAGAACAAGAGTGAAACTCCGT CTTGAAAAAAAAAAAAAAAAAAAAAAAGCATTCAGTAAGATGGTAGAATA CAAAAATCAACACCCGGACGTCCTATATACAGAAAACTAGTTAGAAAATA TGACATAAGAGACCCCAGGAACAAAAACTAAACAATTAAGAATGCATTTA CCAAGAAAGCAAAATCTTTCCTTTTTTTTCTTTTTTGGCAAGATCTTTTA AGAAAACTCTGAAACACTACTAGGGCCAAAGACTGTCATTAAATAACCCA CTTAAGACTGTTACATATGCTACATACTCACAAGCGGAGGACTAACAAGT AAACTACAGACGTAAGGTAACACTTGGAAAGCATGGGATTATAGAGAAAT GGGACAATGCTGTGTAATGTGTGCTGATGCTGAATTACCTCTAACACAAA GAAAAAACACTAGAGGTAGAACAGCGGTTTGCACACACTACCATGGTGTT CAAATGCATATACATGTTATGTGATACATGCATGCATAGCTATTCTCATA TGCCACGCAGATCTCTGCAAGGACACCCAAAAACTGGCTAATGGACTTGC CACCAGGAGGGGTGTTGTCTGAGGCATGTCAGTGGGAGACGAGTTTTTCA TCAGATATACCTCTGTATCGTTTGCATATTGGACTACATATATCAATAAT CTACAAAATAAATACCCTACTTATAAAACTATTTACAAAAGTTAGGCTGG GCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG CAGATCACGAGGTCAGGAGATCAAGATCATCCTGGCTAACACGGTGAAAG CCAGTCTCTATTGAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGC CTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGAGTGAACGC GGGAGGCGGAGCGTGCAGTGAGCCGAGATCGCGCCACTGCACT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03579.hp1 HG02451.hp2 HG03579.hp1	a0001 a0014 a0001 a0014	a0001c0006 a0014c0024 a0001c0006 a0014c0024	a0001c0006t0001 a0014c0024t0001 a0001c0006t0001 a0014c0024t0001	a0001c0006t0001g0273 a0014c0024t0001g0274 a0001c0006t0001g0273 a0014c0024t0001g0274	2	410	0.0049	-1892	c.89- others(17): Show c.89-12997_89-11106del		TRAP1	ENSG00000126602.11	transcript	ENST00000246957.10	protein_coding	1/17						chr16	TogoVar
RIPK1_chr6_3063494_3120187	3090743	TGCACCTA others(1884): Show TGCACCTAATAACCGCAGCGCACCTACCTGCCGCACCTAGTAACCGCAGA GCGCCTACCTGCCGCACCTAGTAACCGCAGCGCACCTACCTGCCGCACCT AGTAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTA CCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACC GCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCG CACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGC GCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAG TAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACC TGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGC AGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGC CTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTA ACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTG CCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAG CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAAC CGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTAC CTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCG CAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCG CCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGT AACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCT GCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCA GCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCAC CTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCC TACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTCGGAA CCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGC CGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGA GCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCT CGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTA CCTGCCGCACCTCGGAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACC GCAGCGCGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTACCTGCCG CACCTCGGAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCGCAGCGC GCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02647.hp1 HG01243.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0122 a0001c0001t0003g0312 a0001c0001t0001g0122 a0001c0001t0003g0312	2	311	0.0064	-1891	c.915 others(17): Show c.915+1094_915+2984del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
ANKRD36_chr2_97108153_97269521	97188507	GGTGAGAG others(1883): Show GGTGAGAGATAATGAATATTATCTACTAGGTATCAGCAAACAGATATCCA AGGTGATCAATTTAGGACACTTCCACTGAAGAGATGTGAAGTATACGTTC AACTGAATTGTCGTGGTAACTGTGTGCCTTCTCAGTTATTGGGCAAGTTA AAGAGCATGATGAATGTTTGTAGTACAATGGTGTAAATCCTTTTGATTTC CTGCATGAAAGACATGTGGGATCATGTAGCACCTGCTTTGACATTGATTC TCACATGTATGAGTTGCTCCTCTGATTTTAGATCACTTTGTCCTCATCAC TCGGCATATCCACATTGATATTGACACGGTTTTATTTTAGTTTTCGACAT ATGACGAATCATACCATGTTTGAAATTGTAAGGATATATTTCATGGAGCC TGTATTCCCTTTTACCAGTGTATTTCTGTCATGTTCCAGTCCCAAGAGAC AAAGTAGAAGACATCAGAGCCTACACTAGTACAGGCAGAAGGATACAGCT GGATGCTAACACTGTGTGAATGTATGGATAACTTTATCATATTTACATAT GAGTGATTATGTATCCCTTTTGCTTTTCAGTGTCTTCTCAGAAGCAACCA GCCTTGAAGGTAATTAAACTCTCGTTTACATTGTGAACTAGTAATTCTAT AGTCTATGAAACATACTTCATTGATTTATTTATTTATTATTTTCTTTCAA ATTCCATTAAGGCTACAACTGACGAGGAAGATTCTGTTTCGAATATAGCC ACAGAAATAAAGGATGGAGAAAAATCTGGGACAGGTAATTTTGCAAAACA CATTCAATGTCATGTTCAATCCAGATAGAAAAGAACTTCTCTACCCCGAA TAAATCAGCGGAGGGTGGGTGGGGGGCTCGCCTAATCTGCACATTCTGAT TCAGCAGGCCTGAGAGTCTTCATTTGTAATAAATTCCTGGGTGACGCTAA TGCTGCTGGCTTGGAACGTGATCTTCGCAGTAAGATTATACACTTCCCCA CATTGAAATTGGGAAGAAGATACATGGAGAGAGGTTCAAGACATAAGGGG CTCTGGGGAACAGCATAGTTTTGCTTTAATTCTACAGCATGGTTTCACTA AGGGTGGAAGAAGAAAGAGAGGAAGTATAGATTCTACAGACGTCACATAG TACTGCTAAGAAAAGACAGAGAACTGATAGTAATAACCCATAGACACTGT AGAACGAGAACTAAGGAGACCCCTGATGTAGCAATTATTTTCCCAAGGAA GATGGATTGTCAGACAGGAAGGAGGGAAAAGAAGTTATTTATATAATTTA GGGGTTTCTGCTGAGGAAATCTGAGTGAACTCACTTCACATGCATTTGGA ATATGTGCCTAAAAAATATTTGATTTTGGCAGCTCCAGGAATTACTGGAA GCAGGAAACAATGCTAGAATTGGGATAAAGCACACTGACTCATTACTCCT TTTTGTTACTATTAGGCATCAGAGATACATGTTTTGTTGACTTTACTTAT AAAAATGAGATAAAGTTGAATATGAATACATTGGCTTCCTTGTTCAAGGA GCTACCTCTTGGATAAAATAGCTATTTCATGAAACTTCTATAGAGAACAA CATGATACTCCCAAGAAGGCTATTTTAGAAACAAAAATTATGTTGAATTC TAATTAACTCCTAAAATGGTAATTTTCAATGAATATTGCAGTGATTTCTG AATGAAAAACTGATTAATATCTAATGCTTGTAGCAGTTTTACTTTGTAGA AGTATGTCAAAATTGATAATTGATGATATTTTTATTGAGGCTGATATATT ATCCTTTGGTGCCACGACTGGATGAAGAAACTTTCGGAGGGATAAACTAG TGGATACAAGAAACTTAGGCAAATTATTACAACACATGGGT	G G	exon_loss_variant exon_loss_variant	HIGH	HG00099.hp2 HG00558.hp1 HG00639.hp1 others(44): Show HG00099.hp2 HG00558.hp1 HG00639.hp1 HG00642.hp1 HG00741.hp2 HG01070.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01169.hp2 HG01175.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02109.hp1 HG02258.hp1 HG02293.hp1 HG02300.hp1 HG02683.hp1 HG02698.hp2 HG02738.hp1 HG02897.hp1 HG03225.hp1 HG03471.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG04228.hp2 NA18612.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18972.hp1 NA18973.hp1 NA18991.hp1 NA19000.hp1 NA19002.hp1 NA19010.hp1 NA19074.hp1 NA20905.hp1	a0002 a0007 a0013 others(4): Show a0002 a0007 a0013 a0020 a0025 a0026 a0027	a0002c0002 a0007c0007 a0007c0027 others(5): Show a0002c0002 a0007c0007 a0007c0027 a0013c0013 a0020c0044 a0025c0043 a0026c0041 a0027c0023	a0002c0002t0001 a0007c0007t0001 a0007c0007t0006 others(6): Show a0002c0002t0001 a0007c0007t0001 a0007c0007t0006 a0007c0027t0001 a0013c0013t0001 a0020c0044t0001 a0025c0043t0001 a0026c0041t0001 a0027c0023t0001	a0002c0002t0001g0129 a0002c0002t0001g0131 a0002c0002t0001g0133 others(44): Show a0002c0002t0001g0129 a0002c0002t0001g0131 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0145 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0166 a0002c0002t0001g0168 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0202 a0007c0007t0001g0008 a0007c0007t0001g0009 a0007c0007t0001g0010 a0007c0007t0001g0011 a0007c0007t0001g0143 a0007c0007t0001g0144 a0007c0007t0006g0142 a0007c0027t0001g0169 a0013c0013t0001g0146 a0013c0013t0001g0150 a0013c0013t0001g0151 a0013c0013t0001g0152 a0020c0044t0001g0130 a0025c0043t0001g0167 a0026c0041t0001g0165 a0027c0023t0001g0157	47	209	0.2249	-1890	c.214 others(17): Show c.2144-494_2246-496del		ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	33/76					INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKRD36_chr2_97108153_97269521	97188626	CTGTGTGC others(1883): Show CTGTGTGCCTTCTCAGTTATTGGGCAAGTTAAAGAGCATGATGAATGTTT GTAGTACAATGGTGTAAATCCTTTTGATTTCCTGCATGAAAGACATGTGG GATCATGTAGCACCTGCTTTGACATTGATTCTCACATGTATGAGTTGCTC CTCTGATTTTAGATCACTTTGTCCTCATCACTCGGCATATCCACATTGAT ATTGACACGGTTTTATTTTAGTTTTCGACATATGACGAATCATACCATGT TTGAAATTGTAAGGATATATTTCATGGAGCCTGTATTCCCTTTTACCAGT GTATTTCTGTCATGTTCCAGTCCCAAGAGACAAAGTAGAAGACATCAGAG CCTACACTAGTACAGGCAGAAGGATACAGCTGGATGCTAACACTGTGTGA ATGTATGGATAACTTTATCATATTTACATATGAGTGATTATGTATCCCTT TTGCTTTTCAGTGTCTTCTCAGAAGCAACCAGCCTTGAAGGTAATTAAAC TCTCGTTTACATTGTGAACTAGTAATTCTATAGTCTATGAAACATACTTC ATTGATTTATTTATTTATTATTTTCTTTCAAATTCCATTAAGGCTACAAC TGACGAGGAAGATTCTGTTTCGAATATAGCCACAGAAATAAAGGATGGAG AAAAATCTGGGACAGGTAATTTTGCAAAACACATTCAATGTCATGTTCAA TCCAGATAGAAAAGAACTTCTCTACCCCGAATAAATCAGCGGAGGGTGGG TGGGGGGCTCGCCTAATCTGCACATTCTGATTCAGCAGGCCTGAGAGTCT TCATTTGTAATAAATTCCTGGGTGACGCTAATGCTGCTGGCTTGGAACGT GATCTTCGCAGTAAGATTATACACTTCCCCACATTGAAATTGGGAAGAAG ATACATGGAGAGAGGTTCAAGACATAAGGGGCTCTGGGGAACAGCATAGT TTTGCTTTAATTCTACAGCATGGTTTCACTAAGGGTGGAAGAAGAAAGAG AGGAAGTATAGATTCTACAGACGTCACATAGTACTGCTAAGAAAAGACAG AGAACTGATAGTAATAACCCATAGACACTGTAGAACGAGAACTAAGGAGA CCCCTGATGTAGCAATTATTTTCCCAAGGAAGATGGATTGTCAGACAGGA AGGAGGGAAAAGAAGTTATTTATATAATTTAGGGGTTTCTGCTGAGGAAA TCTGAGTGAACTCACTTCACATGCATTTGGAATATGTGCCTAAAAAATAT TTGATTTTGGCAGCTCCAGGAATTACTGGAAGCAGGAAACAATGCTAGAA TTGGGATAAAGCACACTGACTCATTACTCCTTTTTGTTACTATTAGGCAT CAGAGATACATGTTTTGTTGACTTTACTTATAAAAATGAGATAAAGTTGA ATATGAATACATTGGCTTCCTTGTTCAAGGAGCTACCTCTTGGATAAAAT AGCTATTTCATGAAACTTCTATAGAGAACAACATGATACTCCCAAGAAGG CTATTTTAGAAACAAAAATTATGTTGAATTCTAATTAACTCCTAAAATGG TAATTTTCAATGAATATTGCAGTGATTTCTGAATGAAAAACTGATTAATA TCTAATGCTTGTAGCAGTTTTACTTTGTAGAAGTATGTCAAAATTGATAA TTGATGATATTTTTATTGAGGCTGATATATTATCCTTTGGTGCCACGACT GGATGAAGAAACTTTCGGAGGGATAAACTAGTGGATACAAGAAACTTAGG CAAATTATTACAACACATGGGTGTGAGAGATAATGAATATTATCTACTAG GTATCAGCAAACAGATATCCAAGGTGATCAATTTAGGACACTTCCACTGA AGAGATGCGAAGTGTACTTTCAAGTGAATTGTCATGGTAAT	C C	exon_loss_variant exon_loss_variant	HIGH	NA19010.hp2 NA19010.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0101 a0006c0006t0001g0101	1	209	0.0048	-1890	c.214 others(17): Show c.2144-398_2246-400del		ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	33/76					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASMTL_chrX_1398139_1457909	1408124	GCAGGAGG others(1883): 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 TACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGC TGCAGTGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTC CCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCC	G G	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02559.hp1 HG02922.hp1 others(1): Show HG01981.hp1 HG02559.hp1 HG02922.hp1 HG02970.hp2	a0002 a0005 a0006 a0002 a0005 a0006	a0002c0014 a0005c0024 a0006c0017 a0002c0014 a0005c0024 a0006c0017	a0002c0014t0001 a0005c0024t0001 a0006c0017t0001 a0002c0014t0001 a0005c0024t0001 a0006c0017t0001	a0002c0014t0001g0002 a0005c0024t0001g0178 a0006c0017t0001g0182 a0002c0014t0001g0002 a0005c0024t0001g0178 a0006c0017t0001g0182	4	77	0.0519	-1890	c.164 others(19): Show c.1645+2718_1645+4607del		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12						chrX	TogoVar
ASMTL_chrX_1398139_1457909	1408229	GCAGGAGG others(1883): 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 TACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGC TGCAGTGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTC CCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCC	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0156 a0002c0005t0001g0156	1	124	0.0081	-1890	c.164 others(19): Show c.1645+2614_1645+4503del		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12						chrX	TogoVar
ASMTL_chrX_1398139_1457909	1408229	GCAGGAGG others(1883): 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 TACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGC TGCAGTGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTC CCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCC	G G	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02630.hp2 HG02886.hp1 others(2): Show HG02293.hp1 HG02630.hp2 HG02886.hp1 NA18980.hp1 NA20300.hp2	a0002 a0003 a0002 a0003	a0002c0005 a0002c0011 a0003c0002 others(1): Show a0002c0005 a0002c0011 a0003c0002 a0003c0006	a0002c0005t0001 a0002c0011t0001 a0003c0002t0001 others(1): Show a0002c0005t0001 a0002c0011t0001 a0003c0002t0001 a0003c0006t0001	a0002c0005t0001g0091 a0002c0011t0001g0103 a0003c0002t0001g0161 others(2): Show a0002c0005t0001g0091 a0002c0011t0001g0103 a0003c0002t0001g0161 a0003c0002t0001g0162 a0003c0006t0001g0102	5	128	0.0391	-1890	c.164 others(19): Show c.1645+2613_1645+4502del		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12						chrX	TogoVar
C1orf159_chr1_1076823_1121089	1077090	CCGGGAGG others(1883): Show CCGGGAGGCTGAGGCTACGGGGACTCCGTGCGGGGAGGCTGAGTCTACGG GGACTCCGTGAGGGGTGGCTGAGTCTATGGGGACTCCGTGCGGGGAGGCT GAGTCTATGGGGACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCCGTG CCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGG GGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCTGTGCCGGGAGGCT GAGGCTACGGGGACTCCGTGCCGGGAGGCTGAGGCTACGGGGACTCCGTG GGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGG GGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCT GAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGTCTATGGGGACTCCGTG CCGAGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGG GGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCT GAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTT GGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTACGG GGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCT GAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTG CGGGGAGGCTGAGGCTACGGGGACTCCGTTGGGGGAGGCTGAGGCTACGG GGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCT GAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTG GGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGG GGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCT GAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTG GGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGG GGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCT GAGGCTATGGGGACTCCGTGGGGGGAGGCTGCGTCTATGGGGACTCCGTG AGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGG GGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCT GAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTG GGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGG GGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCT GAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTG GGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGG GGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCT GAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTG GGGGGAGGCTGAGGCTATGGGCACTCCGTGGGGGGAGGCTGAGGCTATGG GGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCT GAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTG GGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGG GGACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCCGTGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18975.hp2 NA18954.hp1 NA18975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0054 a0001c0002t0002g0251 a0001c0002t0002g0054 a0001c0002t0002g0251	2	252	0.0079	-1890	c.39 others(11): Show c.3913_*5802del		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding					4732		chr1	TogoVar
MUC22_chr6_31005474_31040402	31027084	GGGCTCTG others(1883): Show GGGCTCTGAGACCACTATGGCCTCTACCATAGGCCCTGAGACCACCAAGG TCTCCACTGCAAGCTCTGAGGTGACCACAGTCTTTGCTGCAGGCTCTGAG ACAATCAGAGCCTCTACCGTAGGCTCTGAGACCACCACAGTCTCTACCAC AGGCTCTGAGACCACCACAGCCTCCATCATGGGCTCTGAGACCAGCACAG ATTCTACCACAGGCTCTGAGACCACCACAGCCTCTACTGAAGGCTCTGAG ACCACCACAGCTTCCACTGAAGGCTCTGAGGCCACTACAGTCTCCACCAC AGGCTCTGAGACCACTACAGTTTCTATCACAGACTCAGAGACCACCACCA CCTGTACTGAAGGCTCTGAGATGACTGCAGTCTCCACCACAGTCTTTGAG ACCACTACAGCCTCTACTGAAGGCTCTGAGATCACAATAGCCTCTACTTC AGACTCTGAGACCACCACAGCTTCTACTGAAGGTTCTGAGACCACTACAG TCACTACCGCAGGCTCTGAGACCAAAACAGCCTATACTACAGGCTCTGAG ACCACCACAGCCTCTAATACAGGCTTGGAGACCACCACAGTCTTTACCAT AGGCTCTGACACCACCACAGCCTCTACTGAAGGCTCTGAGACCACTGCAG TCTCTGCCACAGGCTCTGAGATGACCACAGTCTCTACTGAAGGCTCTGAG AACACTACAGTCTCCACCACAGGCTCTGAGACCACTACAGTTTCCACCAC AGGCTTGGAGACCACCACCACTTCCACTGAAGGCTCTGAGATGACTACAG TCTCCACCACAGGTGCTGAGACCACCACAGACTCTACTGAAGGCTCTGGG ACCACTGCAGCCTCCACTGCAGGCTCTGAGACCACCACAGTCTCTACTGC AGATTCTGAGAACACCACAGCATCTACTGCAGATTCTGAGACCACCTCAG CCTCTACTACAGGCTCTGAGACCACCACAGCCTCTACTACAAGCTCTGAG ACCACCACAGCCTCTACTGAAGGCTCTGAGACCACTACAGTCTCCACCAC AGACTCTGAGACCACCATGGTCTCTACCACAGGCTCTGAGAGGACCATCA CCTCTACTGAAGGCTCTGAGACCACTACAGTATCTGCCACAGGCTCTGAG ACCACAGTCTCTACTGAAGGCTCTGGGACCACTACAGTCTCCATCACAGG CTCTGAGACCACTAAAGTTTCTACCACAGGTTCAGAGACCACCACCACTT CTACTGAAGGCTCTGAGATTACTACAGCCTCCATCACAGGCTCTGAGACC ACCACAGCCTCTACTGAAGGCTCCGAGACCACCACAGCCTCTACTGAAGG CTCCGAGACCACCTCAGCCTCTACTACAGGCTCTGAGACCACCACAGCCT CTACTACAAGCTCTGAGACCACCATGGCATCCATCATGGGCTCTGAGACC ACTATGGCCTCTACCATAGGCTCTGAGACCACCAAGGTCTCCACTGCAAG CTCTAAAATGACCACAGTCTTCACTGAAAACTCTGAGACCACCATAGCCT CTACCACAGCCTCTGAGACCACCACAGTCTCCACTGCAGGCTCTGAGACC ATCCCAGCCTCTACAGCAGGCTCTGAGACCACCACCACCACCTCTACTGA AGGCTCTGAGACCACTACAGCCTCTACTGAAGGCTCTGAGACCACCACAG CCTCTACTGAAAGCTCTGAGACCACTACAGCCACTACCATAGGCTCTGAG ACCACCACAGCCTCTACTGAAGGCTCTGAGACTACCACCACCTCTACTGA AGGCTCTGAGACCACCACAGCCTCTACTGAAGGCTCTGAGATCACTACAG TTTCTACCACAGGCTCTGAGACCACCACAGCCTCTACTGAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01109.hp2 HG02559.hp1 HG02809.hp1 others(1): Show HG01109.hp2 HG02559.hp1 HG02809.hp1 HG03225.hp2	a0032 a0063 a0032 a0063	a0032c0045 a0032c0111 a0063c0100 a0032c0045 a0032c0111 a0063c0100	a0032c0045t0001 a0032c0045t0003 a0032c0111t0001 others(1): Show a0032c0045t0001 a0032c0045t0003 a0032c0111t0001 a0063c0100t0003	a0032c0045t0001g0141 a0032c0045t0003g0129 a0032c0111t0001g0139 others(1): Show a0032c0045t0001g0141 a0032c0045t0003g0129 a0032c0111t0001g0139 a0063c0100t0003g0107	4	444	0.0090	-1890	c.166 others(9): Show c.1668_3557del	p.Met others(14): Show p.Met557_Thr1186del	MUC22	ENSG00000261272.1	transcript	ENST00000561890.1	protein_coding	2/4	1901/6019	1668/5322	556/1773		INFO_REALIGN_3_PRIME	chr6	TogoVar
ASMT_chrX_1610059_1648081	1637121	CCCATCCT others(1882): Show CCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGG GGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGA GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC CTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTC TGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCT GATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTG TCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGCACATGAGGATGTGG GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG GTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC CAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGAC ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC CATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAG ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCA CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA GCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACAC AGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCA TCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGAT AGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACA TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG GGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATG AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT CCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCT CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCA TCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGG ACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAG GACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTG TGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGT GTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTG ATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT GTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGT GGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGA GATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTG TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0188 a0002c0002t0002g0188	1	208	0.0048	-1889	c.910 others(16): Show c.910+573_910+2461del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
GALNT9_chr12_132191372_132334589	132298686	CCACCCCT others(1882): Show CCACCCCTGAGATAACCAAGCCACTGCTGAGATAACCCACTCCCATGATA ACTAACCCACTCCCACCACACCTAACCCACCCCCAACACACCTAACCCAT CCCTGAGATAACCAACCCACTCCTGAGATAACTCACACCCATAACTAACC CACTCTCACCACACCTAAACCATCCCTGAGATGACCAAGCCACTCCTGAG ATAACCCACTCTCATAACTAACCCACTGCCACCACACCTAACCCATCCCA GAGATAAACAACCCACTCCTGAGATAAATCACTCCCATAACTAACCCACT CGGACCACACCTAACCCATCCCTGAGATGACCAAGCCACTCCTGAGATAA CTCACTCCCATACCTCACCCACTCCCACCACACCTAACCCACCCGAGATA ACCAAGCCACTGCTGAGATAACCCACTCCCATGATAACTAACCCACTCCC ACCACACCTAACCCACCCCCAACACACCTAACCCACCCCTGAGATAACCA ACCCACTCCTGAGATGACTCACTCCCATAACTAACCCACTCCCACCACAC CTAACCATACCTGAGATGACCAAGCCACTCCTGAGATAACTCACTCCCAT AACTCACCCACTCCCACCACATCTAACCCATCCCTGAGATAACCAAGCCA CTGCTGAGATAACCCACTCCCATGATAACTAACCCACTCCCACCACACCT AACCCATCCCTGAGATGACCAACCCATTCCTGAGATAACTCACTCCCATA ACTAACCCACTCCCACCACACCTAACCCACCCCTGAGATGACCAAGCCAC TCCTGAGATAACTCACTCCCATAACTCACCCACTCCCACCACATCTAACC CATCCCTGAGATAACTAAGCCACTGCTGAGATAACCCACTCCCATGATAA CTAACCCACTCCCACCACACCTAACCCATCCCTGAGATGACCAACCCATT CCTGAGATAACTCACTCCCATAACTAACACACTCCCACCACACCTAACCC ATCCCTGAGATGACCAAGCCACTGCTGAGATAACCCACTCCCATGATAAC TAACCCACTCCCACCACACCTAACCCATCCCTGAGATGACCAACCCACTC CTGAGATAACTCACTCCCATAACTAACCCACTCCCACCACACCTAACCCA CCCCTGAGATGACCAACCCACTCCTGAGATAACTCACTCCCATAACTAAC CCACTCCCACCACACCTAACCCATCCCTGAGATAACCAAGCCACTGCTGA GATAACCCACTCCCATGATAACTAACCCACTCCCACCACACCTAACCCAC CCCTCAGATGACCAACCCACTCCTGAGATAACTCACTCCCATGATAACTA ACCCACTCCCACCACACCTAACCCATCCCTGAGATGACCAGCCCACTCCT GAGATAACTCACTCCCATGATAACTAACCCACTCCCACCACACCTAACCC ATCCCTGAGATAACCAAGCCACTCCTGAGATAACTCACTCCCATAACTAA CCTGCTCCCACCACACCTAACTCATCCCTGAGATAACCAAGCCACTGCTG AGATAACCCACTCCCATGATAACTAACCCACTCCCACCACACCTAACCCA CCCCTGAGATGACCAAGCCACTCCTGAGATAACTCACTCCCATAACTAAC CCACTCCCACCACATCTAACCCATCCCTGAGATGACCAAGCCACTCCTGA GATAACTCACTCCCATAACTCACCCACTCCCACCACACCTAACGCACCCC TGAGATAACCAAGCCACTGCTGAGATAACCCACTCCCATAACTAACCCAC TCCCACCACATCTAACCCATCCCTGAGATGACCAAGCCACTCCTGAGATA ACTCACTCCCATAACTCACCCACTCCCACCACACCTAACG	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02683.hp2 HG02895.hp1 others(1): Show HG00733.hp2 HG02683.hp2 HG02895.hp1 NA18952.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0005 a0001c0035 others(1): Show a0001c0004 a0001c0005 a0001c0035 a0002c0032	a0001c0004t0001 a0001c0005t0001 a0001c0035t0009 others(1): Show a0001c0004t0001 a0001c0005t0001 a0001c0035t0009 a0002c0032t0002	a0001c0004t0001g0157 a0001c0005t0001g0008 a0001c0035t0009g0140 others(1): Show a0001c0004t0001g0157 a0001c0005t0001g0008 a0001c0035t0009g0140 a0002c0032t0002g0167	4	182	0.0220	-1889	c.239 others(19): Show c.239-14145_239-12257del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10						chr12	TogoVar
ZDHHC21_chr9_14606071_14698432	14686700	TAGTGGCT others(1882): Show TAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGG ATCACTTGAGGTCAGGAGTTCAAGACGAGCCTGGCAAACATGGGAAAACC CTGTCTCCACTAAAAATACAAAAATAAGCTGGGCGTGGTGGTGTGTGCCT GTAATCACAACTACTTAGGAGGTTAAGGCACGAGAATCGTTTCAACCCAA GAGGCAGAGGTTGCAGTGAGCAGAGACTGTACTACAGCACTCCAGCCTGG GCGACAGGGCGAGACTTCATCTCAAAAAAACAAAAAAAAAAACAATGTTA AAGAGCTGCTACCCCAATGGCAAATAAATGAATTATTTCAGAAAAAAATT CAAACAGAATTAAATGTGGTACAACCAAACATTTTTGAAAGATGGCCAAA AACAATAATGCTACTAAGTCTATGACTTGAGAGTGGCTTCCTAATGTTTC AGCAAAATAGTAGTTTCTGTCAGTAACGTTAGTAGGTTATAGCACAGGCC AATCACCCATGAGTCAAATCCCAGTCACTTGCTGGCTTAAAATCAAGAAA AATCCTACTTTACATTTATAGTTATCAGAGCTACACTGCAGACACAGCCT CTGAAATGAGATTCGTATTTCAGTACTAGATAAACACCACTACCTCTGAG AAATGAAATCTCATCTATGTGGTAATAAAAGTAATGCTGGGCCGGGCATG GTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGCCAAGGTGGGCAGAT CATCTGAGGTCAGGAGTTTGAGGCTGGCCTGGCCAACATGTTAAAACCCC GTCTCTACCAAAAATACAACAATTAGCCAGGCATAGTGGCGCCCGCCTGT AATCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCGCTTGAAGCTTGAA CCCAGGAGGCAGAAGCCGCAGTGAGCAGAAATCATCGTGCCACTGCATTC CAGTCTGGGTGCCAGAGTAAGGCCCTGTCTCAAAACAAAACAAAACAAAA GTAACGTTGGGCCTAAACATTCAAAAAATTGGAACAACAAAACAATTTCA AAGTTTCAAAACTATAAAATGTCATTAAATATTTTTAATATTGCTACGCC TGAAAGAATACAATCTAACAATTTACAAGCTAAGTTTTCAAACATACCAA TTTTTTTTCCACAGTGCCAAGAGAAAATGCTTATTAGATGAATATATGAA ATTTTAAACTTATTAATTACAGCCAAATGAATTTAGAAAGCAGAGTTACA GCTGTAAACGTATTTATAAAACTTTTTGACTTCTGATATCATTCTACTCT GAAAATTAGTCAAGTGTGGCAGTTAAATAATTCTCCATAAAAATCAAGCT CTCATTGCCAATTAGGAATTCAATTTTTTAAATATCACATAGATATTCAG TTGATTATCAACAGATTAAAAAATTAATCTTCTACAGATGTTAAAAGAGA AATTATGACATAGTCTCTTATTCACTTTCCAAGCTTTAGTTTCTTTTCAA GCTTCAGTTTGACCATCTGTAAAATGGAGATAAAAATGTCAACTTACACA GTTGCTGTCACGCTTAAATGAGAAATTGACTGGCAAAGCAGCGCCTCCAA AATGCTAACTTTACAGGGGAGCGAAGGAGAGAGCAGAGGAAGGGAAAGTG AAAGATAAGTTTTACTTCTAGTTTTACAAACTCCAGAATGAAACAACGTT TCTAGGTCCCCATCATTAAAAGTAATGAAACAGTTTAACAATACCCCAGG GCCTGCTCTTGCCTGTGATCATACCATGTTGGGAGGTGAGTAGGGGTAGG ATTGCTTGAGCTAAGGAGATCCACAGCAGCCTGGGCAACACAGCCAGACC TAGCCACTAGTTAAAAAACAAACAAATGGGGGCCAGGCAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp1 HG02258.hp2 others(10): Show HG01243.hp2 HG02109.hp1 HG02258.hp2 HG02559.hp1 HG02647.hp1 HG02723.hp1 HG02886.hp2 HG03098.hp1 HG03195.hp1 HG03471.hp1 HG03471.hp2 NA18522.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0033 others(5): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0033 a0001c0001t0046 a0001c0001t0056 a0001c0001t0062 a0001c0001t0086 a0001c0001t0092	a0001c0001t0001g0071 a0001c0001t0012g0069 a0001c0001t0012g0072 others(10): Show a0001c0001t0001g0071 a0001c0001t0012g0069 a0001c0001t0012g0072 a0001c0001t0012g0073 a0001c0001t0012g0075 a0001c0001t0033g0074 a0001c0001t0033g0079 a0001c0001t0046g0076 a0001c0001t0046g0077 a0001c0001t0056g0036 a0001c0001t0062g0035 a0001c0001t0086g0078 a0001c0001t0092g0070	13	412	0.0316	-1889	c.-17 others(19): Show c.-176+1748_-176+3636del		ZDHHC21	ENSG00000175893.12	transcript	ENST00000380916.9	protein_coding	2/9						chr9	TogoVar
BRSK2_chr11_1384934_1467689	1429523	GCTGTGCC others(1881): Show GCTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTC AGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGC AGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGT GAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAG CGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGT CTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTT CTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTG CGGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC GGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGT CTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTG GTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGG TTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTT TGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGC CACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCAC TGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGT GCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGA GCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAG CGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGT CTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTT CTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC GGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGT CTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTG GTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGG TTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGT TTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTC AGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02717.hp1 HG01346.hp2 HG02717.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0034 a0002c0005t0034	a0002c0005t0034g0057 a0002c0005t0034g0058 a0002c0005t0034g0057 a0002c0005t0034g0058	2	280	0.0071	-1888	c.92- others(15): Show c.92-6510_92-4623del		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
CCDC146_chr7_77117615_77300204	77143631	ATATGGCT others(1881): Show ATATGGCTAGCCAGTTTTCACAGCACCATTTTTTAAATAGGGAATCCTTT CTCCATTGCTTGTTTTGTCAGTTTTGTCAAAGACTGGATAGTTGTAGATG TGTGGTATTATTTCTGAGGGCTCTGTTCTGTTCCATTGGTCTATATCTCT GATTTGGTACCAGTACCATGCTGTTTTGGTTACTGTGGCCTTGTAGTATA GTTTGAAGTAAGGTAGCGTGATGCCTCCATCTTTGTTCTTTTGGCTTAGG ATTGACTTGGCAATGTGGGCTCTTTTTTGGTTCCACATGAACTTTAAAGT AGTTTTTTCCAGTTCCGTGAAGAAAGTAATTGGTAGCTTGATGGGGATGG CATTGAATCTATAAATTACTTTGGGCAGTATGGCCATTTTCACGATATTA ATTCTTCCTATCCATGAGCATGGAATGTTATTCCATTTGTTTGTATCTTC TTTTATTTCATTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCA CATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATT GTGAATGGGAGTTCACTCATGATTTGGCTCTCTGTTTGTCTGTTATTGGT GTATAAGAATGCTTGTGATTTTTGCACATTGATTTTGTATCCTGAGATTT TGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGATGATGGGG TTTTCTAAATATACAATCATGTCATCTGCAAACAGAGACAATTTGACTTC CTCTTTTCCTAATTGGATACTCTTTATTTCTTTCTCCTGCCTGATTGCCC TGGCCAGAACTTCCAATACTATGTTGAAGAGGAGTGGTGAGAGAGGGCAT CCCTGTCTTGTACCTGTTTTCAAAGGAAATGCTTCCAGTTTTTGCCTGTT CAGTATGATATTGGTTGTGGGTTTGTCATAAATACCTCTTATTATTTTGA GATACATCCCATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGAGC TGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTG GTTTTTGTCATTGGTTCTGTTTATATGTTGGATTACATTTATTGATTTGC ATATGTTGAACCAGCCTTGCATTCCAGGGATGAAGTCCACTTGATCATGG TGGATAAGCTTTTTGATGGGCTGCTGGATTCTGTTTGCCCGTATTTTATT GAGGATTTTTTCATCGATGTTCATCAGGGATATTGGTCTAAAATTCTCTT TTTTTTTCTGTGTCTCTGCCAGCCTTTGGTATCAGGATGATGCTGGCCTC ATAAAGTGAATTAGGGAGGATTCCCTCTTTTTCTATTGACTGGAATAGTT TCAGAAGGAATGGTACCAGCTCCTCCTAGTACCTCTGGTAGAATTCGGCT GTGAATCCGTCTGGTCCTGGACTTTTTTTGGTTAGTAGGCTATTAATTAT TGCCTCAATTTCAGAGCCTATTATTGGTCTATTCAGGGATTCAACTTCTT CCTGGTTTAGTCTTGGGAGGGTGTATGTGTCCAGGAATTTATCCATTTCT TCTAGATTTTCTAGTTTATTTGCATAGGGTGTTTATAGTATTCTCTGATG ATAGTTTGTATTTCTGTGGGATCAGTGGTGATATCCCCTTTATCATTTTT TATTGCATCTATTTGATTCTTCTCTCTTTTCTTCTTTATTAGTCTTGCTA GTGGTCTATCAATTTTGTTGATCTTTTCAAAAAACCAGCTCCTGGATTCA TTGATTTTTTGAAGGGTTTTTTGTGTCTCTATCTCCTTCAGTTCTTCTCT GATCTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTT GCTTCTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02723.hp2 HG02818.hp2 others(4): Show HG02257.hp1 HG02723.hp2 HG02818.hp2 HG03139.hp1 HG03209.hp2 HG03516.hp2 NA19240.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0002c0022 a0005c0013 a0002c0002 a0002c0022 a0005c0013	a0002c0002t0002 a0002c0022t0001 a0002c0022t0002 others(1): Show a0002c0002t0002 a0002c0022t0001 a0002c0022t0002 a0005c0013t0001	a0002c0002t0002g0036 a0002c0022t0001g0223 a0002c0022t0002g0035 others(4): Show a0002c0002t0002g0036 a0002c0022t0001g0223 a0002c0022t0002g0035 a0005c0013t0001g0222 a0005c0013t0001g0224 a0005c0013t0001g0225 a0005c0013t0001g0226	7	246	0.0285	-1888	c.-12 others(19): Show c.-12+20901_-11-22138del		CCDC146	ENSG00000135205.15	transcript	ENST00000285871.5	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
GAL3ST2_chr2_241771822_241809287	241805524	CTCCCCCC others(1881): Show CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCC CCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG AACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCC TCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCT TCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	310	0.0032	-1888	c.13 others(11): Show c.1359_*3246del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1238		chr2	TogoVar
ANK2_chr4_113044653_113388736	113208034	TGAAATGA others(1879): Show TGAAATGAAGCCTGAGGAAGAAAGTCAGATCCTGAAAGATTTTATGAGCC ATATTAAGGTTTTCGTTCTAAGACTTGTATCCTAAGCCCAATATGAAGCT GGCTTGGGGGTGGAACAAGCTCAGGATTCTGTTTTGGATTCTGAAAACAT GACCCTGGTGCAGCTTGGAGAACAAGTCGAAGGGAGTCAGGTGCAATGCA AAGCAAATCATTTGGAGACCGTTGTCATGATCTACTCCATATAAGAGGTG ATGTTAGCTTGGAATGGAGTAGTAGTGGTCTGGATGATGGAGAAAAGGGG ACTGTTATAAGACTGATTAAGGACCAGTTTCAGAGCACTTGATGATGATG GCCTATGGGAGGAGAGGAAGACGATAGTGTCAATAGATCTCTCCCTTGCC TAACAGTATAGATGGTAATGCAACACTATAATATAAAACAGTGCATAAAG ACAAAGATTTGTTTGTTTATTTTATTTTATTTTTTTTGAGATGGAATCTC ACTCTGTCACCCAAGCTGGAGTGCAGTGGCATGATATAGCTCACTGCAGT CTCAAACTCCCAGGCTCAAGCAACCCTCCTACCTCAGCTTTCTGAGTAGC TAGGACTACAAACATGCACCAACATGCTGAACTAATTTTTTAAATGTTTT GTAGAGACAGGGTCTTGCTATCTCGCCCAGACTGGCCTTGAACTCCTGGG TTCAAGCAGTCCTTCCACCTCCACCTCCCAAAGTGCTGGGATTATAGGCA TGAGCCACTTTGTTTCTGGTTTTGTTTTTGGTTTTGGTGAGGAGAGTAAG AGATCATGAATAGCATTTGAACTGCTTGTTATACATCCCTAAAAGAAATA TAAGTGGTTATTACATCATTTGATGTAAATGGTTATTAAAGCAGTGGACT CGAATGAGACTGCCGGAGCAGTAAAGACAGTGAAGAGGCAAAGGGCATAC TTCCCCTTCATCCTCTGAAGGCTGGCTAAAAATCAACTAACAGAAAGGCA GATTAATAGGAGAAAAGGAATACAAATGGATTAACATACATGGGAGCCAT ACAAAACTATAACAACTCAAATAAATGGCCAGATGATTGACACTTTTATA CCATTTTGAGGATACAGAAAGAATAGGGGCCTGGAGCATGGCAAAACAAG TTATGGGAGGGGGAGAAGGCGAGGTCTAGCTAACAAAGGAGGTCTTGCTA TATAGATGAAACCTCACCAGTAGTAGTAGCCCTTGGAGAAAATAGATGGT GAATGTTTCTTTCAGACCTTTGAAGATGTCAGACTCTCAGTTCACTTTTT CTAGATCCAGACAAGGGAGGGCCCACAGAGAAAGCCTGGCTGCATCAATG CAGATTCTCTACAGATGCAAATCTCCCCCACAGGACAGCTTTGCAGGGCT ACTTCTTTTTGTAGGCCCTCTGAACGGCCATCTCAAAATATGTCAAAGAA GAATATTTGTTATCGAACCAAACTGGGGCCCACTCGCCCTGTATAGCAAT ACCAGATATCCACACCAAGGTTTTCAGCGGGAGAAAGGAAGGTGTTTATT GGCAGGGTGCCTAACAAGGAGGATCAGGCAGCTCATGCTTAAATCCTGAC CTCCCTGATGGCTTGCAGGTAAAGATTTTTAAAGGCGGGGGTAAATTTCA GAAAGCAGAAGTTACAGGCAAAATTGTAAATCAAAACATGGAGGTTCCAC ATTGGTTTTGGCCTAAAAGGTCAGAGTATCTTGAAGCGGAGGACTTACAG GTCACAGATTTTCTGATTTGCAGTTGGGTAAGGAAGAGAAGCTTTGTTTA AAAATGTAGGGTCAGCAGAAAAGAATGTTAGCCTGGGTTCATGGGCATGA CTTTTTTCAGGCCCCTCAGGAGGAAGTGTAAAACAAA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02486.hp1 others(2): Show HG02258.hp1 HG02451.hp2 HG02486.hp1 HG03471.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0097 a0001c0001t0001g0101 a0002c0002t0001g0035 others(2): Show a0001c0001t0001g0097 a0001c0001t0001g0101 a0002c0002t0001g0035 a0002c0002t0001g0088 a0002c0002t0001g0090	5	176	0.0284	-1886	c.384 others(18): Show c.384+8929_384+10814del		ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	4/45					INFO_REALIGN_3_PRIME	chr4	TogoVar
BRSK2_chr11_1384934_1467689	1429834	GTCTGGTC others(1879): Show GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGT CAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTT TTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTG CCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA CTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTG TGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGC TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTG AGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGC GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC GGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCG GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCT GGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTT TTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTG CCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA CTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTG TGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGT GCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGA GCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCG TCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCT TCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCT GCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCG GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0114 a0001c0003t0001g0114	1	358	0.0028	-1886	c.92- others(15): Show c.92-6205_92-4320del		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19						chr11	TogoVar
RPRD1A_chr18_35984824_36072559	36060172	TTGTAATC others(1879): Show TTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCTGACTAACACGGTAAAACCCCCATCTCTACTAAA AATACAAAAAAATTAGCCAGGCATGGTGGCGGGCGCCTATAGTCCCAGCT ACTTGGGAGGCTGAGACAGGAGAATGGCATGAACCCGGGAAGGTGGAGGT TGCAGTGAACCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGCG AGACTCTGTCTCAAAAAAAATAAAAAAGAAAAATGTTCTTTCACTTCTCC ATTTTTCTAAAACCAAATTAATAAGAACAGCCAAGAATATACAGTACTTA TTTTAGCACATCTTACAAGTTTAAGCCGTATTAGTGAATACGAATGTTAA TTCAACGAATATTTAAAAACTTTCATCAAACGCAGTATGCTGGGGAGCTA AAAATTGAAATAGGTAAACAACCTGAAGGAGCCCACTATCTACTTCACAA CCAATATGTAACCCCCCAACCTATAATACAATATAAAATGGTAATTAGTT CCCTGAAAGATATCTAACATAGCTTATTGAAAAAGTGATGATTTCAACAA ATGATTACAAATAGGAGGAAAATCTAAACCTTAAATAATGTATTATTTTA ATTGTTGCCAACCCTAGAAAAAATAAGCCCAGCATGGTAGTGTGCACCTG TAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAGATCACCTGAGCCCAAG AGTTCAAGAGCAGCCTCGGCAACATAGTGAGACACTGTCTCATAAAAAAA AAAAAATTTAGGAAACAAAGTTAACAGGCATTCAAAGGCTGACCATTTCC AGGTTTGGCTCTTTGCATCCAAAGCTATGTATCACCTCAGCACTTTCACA TATTCCCAGTGGCTGCAGGCCCAAGCCCCCCTACCCCCGCAACTTGTTCA AAGAGGTCTTTTATTAAACGTCACCTTGCAGAGATGATTTCCCTCTAACT AAAGATTTCCTCCTTCAAAGAACTAAACACGAAATTTATATTTAAAATTT TTTGTTTATTGGTTGCCCTTACCACAAGACTATAAATTCTGAGGGCAGGG ATAAACTGTTTTCCCTTTGTTTTCTTTACCATTGTAATACACAATCAATA AATACAGGGTGAGTAAACATACTTTAAGGGGTTGAGGCACTTACAGTTTT GTTAAGACACCAATATAACATAAAAGAGGCTGGTACAAAGGATACAATCA CTAGACTAGGGAAGGCAGTGACCTTCACCAACTACAAAGAATTTCCTCCT ATCTATCTTGTTTTGTACAGCTCTTATAGAGATCTTTCAGCGAGTGTGTG TAGAAAAGAGCCCAAATGTTAGTGTTGGTTTCTAAGTTCAGGTATGTTCA TGGTCAATATTTCTACAGAAATGAATATAAATTAATGATGTATATTAAGT TTTAAAATTTAGCCTAGTATTGACTGAGACATTTACAGTTTAAAACAGTC ACCTTCAAAGGACACTATTAAGAAAGTAAAAAGACAACCCACTGAATGGA AGAAAATATTTGTGGTATGAATCTAATACAATACTTGTACCTAGAATACA TTGGGAACACTTACAACTCAATCATAAAAAGACAAATTTTAAAATAGGCA GAATAGACATTTCTCCAGACAACATCCAAATGGCCAATAAGTACATGAAA ATAGGCTCAGTGTCATTAGTCATCTGGGAAATGCATATCAAAATCATGAG ATACCACTTCATACCCACTAGGACAGCTGTAATCAAAAAGATAACAAATA TTAGCAAGGATGTAGAAAAACTGGACCCTCATACACTGCTTGTAGGAATG TATTTTAAAAACATGGCCGGGCGCGGTGGCTCACGCC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0284 a0001c0001t0006g0284	1	316	0.0032	-1886	c.151 others(17): Show c.151+5196_151+7081del		RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	1/6						chr18	TogoVar
TPSB2_chr16_1223336_1235184	1233300	AGGCATGA others(1877): Show AGGCATGAAAAAGGATGACCTCCCGATAAAAAAAATCAATCATGTTCGGG CGTGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGCT GGGTCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACGTGATGAAA CCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGCGGTGGCTCACGC CTGTAATCCTAGCACTTCGGGAGGCCAAGGCGGGTGGATCACCTGAGGTC AGGAGTTCGAGACCCCCCTGGCTAACACAGTGAAACCCTGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCCGTGATCCGAGATGGCGCCACTGCACTCCAGCCTGGGCAATGAAGGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGTGAAAGGA AGTTCTGCAGGAAGAAGATGATAAGAGATGAACATCTAGACCTAGACTAA GGGAAGATAAACTCTGGAAATGGAAACAGCTGTGACTGTGTAAGACAGTT TTCTCTCTCAAAAAATATTTGAAAGAGAATTGGCAGTTTGAAGCAACAAC AGCAAAGCGAGTGCAGGTATCGTGTGGTTTATGGAATACACAAGGGTGCG GCGTGTGCTACAGTAACAGAAGGATCCGGGGAGACTAAAAGCAGGCTGTT GCAAGTTGAAATTGCACGTGAAGTTGTGGTGTTTTGGAATTAATGCACTT TATTTTTTAGAGCAGTTTTAAGTTTACAGACAACTGGGCAGATAGTACAG ATCGTATCCCCCCACACACACATCCCCACACACAGAGTTTCCTGTTATGA ACATTTTGCATTACTGTGGGTGCATTGTTACAGCTGATGAACAATATTGA TACATTATTACTAACGAACTCCCACAGTTTACATGAGGGTTCACTCTGTC TGTTGTACATTCTGTGGGTCGTGGCAAGTGCACAAGTCATGTGTCCACCA TTACCGTATTATGCGGAATACATCCCCTGCCCTCAAAATCTCGTGCTCCA CTGCCTCTCCCTCTCCCCATCCCCTGGAAACCACGGATATTTTCATTGTC TCTGAAGTTTTGACTTATCCACTATCAACGATACACTATTAACTTTTTCC GACTAGCTTCTTTCACTGAGTAGTAGGCAGTTATGGCCCCTGTATGTCTT TTCAAGGCTTGATAGCTCCTTGCTTTTATTTATTTATTTATTTATTTATT TATTTATTTATTTATTTATTTTGAGACAGAGTCTCGCTCTGTCTCCTAGG CTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAAGCTGCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCGAGTAGCTGGGACTACAGGCAC CTGCCACCATGCCCAGCTGTTGTTTTTTTTTTTTTTTTTTAGAGATGGGT TTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCACATGGTCCGC CCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGACACCGCACC CGGCCAGCTCATTGCTTTTTGTCTCTGAATGATATTCCATTGTCTGGATG TACCACAGTTGTTCTACCCATTCGCCTTTTGAAGGACACTTTGGTTCCTT CAACTTTTTGGCAATTATGGGTAAAGATGCTATCAACATCATGTGCAGGT TTTTGTGTGGGCATAAGTTTTCAACTCCTTGGGTAAGTAAATACCTAGAA GCACAATTGCTAGATCATATAGTAAGAGTATGTTTAGCTTTGTAAGAAAC TGCCAAACTGTCTTCCAAAGTGGCTGCGCCATTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02559.hp2 HG03579.hp2 others(1): Show HG02280.hp1 HG02559.hp2 HG03579.hp2 NA19081.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0005c0005 a0001c0001 a0003c0003 a0005c0005	a0001c0001t0001 a0003c0003t0002 a0005c0005t0005 a0001c0001t0001 a0003c0003t0002 a0005c0005t0005	a0001c0001t0001g0001 a0003c0003t0002g0003 a0005c0005t0005g0022 a0001c0001t0001g0001 a0003c0003t0002g0003 a0005c0005t0005g0022	4	341	0.0117	-1884	c.-50 others(11): Show c.-5023_-3140del		TPSB2	ENSG00000197253.14	transcript	ENST00000606293.5	protein_coding					3117		chr16	TogoVar
ANKRD36C_chr2_95844548_95996824	95957817	ATCCAAAA others(1875): Show ATCCAAAAGTTAGCTCTCTGAACAACAAAGCCAATGTATGCATATTTACA TTTATCTCATTTGACTAACTGATAACAACAAAACTTATACCTCTGATGCC CAGTAATAACAAAGAGGGGTAACAGGTGACTGTGGTTCATCACAATTCTA GCACTCTATCCTGCTTCCAGTAGTTCCAGGAGCAGCCAAAATCAAATTTT CCTTTATGCAAACATTCTAAATGCATCTGAAGTGAGTTCCCTCAGGTTTC CTCAGCAGAAACACTAAAATTAAATAAATAACTTCTTTTCCCTTCTTCCT GCCTCACAATCCCTCTTCCCTGAGGAAAATAATTACTACATCAGTGGTCT CATTACTTCTCGTTCTATAGTTTTTATGGCTTTTTACGATCACTTCTTCC CTCCGGTTTTAGCAATGTGATCAGGCGCCTACAATTTCTAGTACTTCATC TTGTTCTCCTTCCTGTCTTGATGGAGATACGCTGTAGAATTAAAGCAAAA TTATGCTGTCCCCTCAGCCTGTTGTATCTTGAACTGCTCTCCAATGGTTC TTCTTCCCAATTTCAATGTAGGGAAGTCTATAATCTTACTACTCAGATCA TGGACAAAAATCAGCAGAATCACCATCACTCAAGAACTTATTACAAATGC AGAATCTCAGGCCCGCTGAATCAGAATGCGCAGCTTCAATGAGCCCCCTG CTGATTTATTCGGGGAAGGGAAGTTCTCCTCTATCTTCAGTGTACATGGC ATTAAATGTGTATTGCAAAATTACCTGTCCCAGATTTTTGTTCATCTTTT ATTTCTGTGGCTGTGTTCGAAACAGAATCGTTCTTGTCACTTGTATCCTG AATGGGATTTCAAACAAAATAATCAATACCTAAAGTATATTTCATAGACT ATACAGTTAATTATTCAAAATATGAATGAGAGTATAATACCTTCAAGGCC GGTTGTTTCTGAGAAGACACTGAAAACCAGAAGGGATACATAATCACTCA TATGTAAATATGATAAAGTTATCCATACTTTCATGCAGTGTTACCATCAA GCTGTATCCTCCTGCCTGAATTAGCATAGGCTTTGATGTTTTCTACTTTG TGTATTGGGACAGGAACATGACAGAATTACACTGTAGAAAACAGAAGTAT AGTCTTCACGCAACAAACACTTCCAATTTCATATGTGATATTATTCTTCA TATGTCTATTACTGCAATAAAACAGTGTCTATATCAATGTGGATATGCCG AGTGATGAGGACAAATGTGATCTAAAATCAGAGCAGCGACTCATACACTT GGGAATCAATGTCAAAGCAGGTGATTAATGCTCCTGCATGTTTTTCATGT AACACATCAGAGGGATTTATACCATTATACTACAAATATTTATCATGTTC TTAAACTTGCCTGACAATTGAGCAGGTAAACAAGGACAATGGCACTTTAG TTGAATGTACACTTCCCAAGTGCTCTGTGGAAGTGTTCTGAATTGATCAG CTTAAATATATGTTTGGTGAATCCTAGCATATAATATTCCTTATTTCTCA CACCGCTGTGGAGTCATAATGTGCCTACATTTCTTCTATCCTCTAGTTTA GCCTTCAGAAAGTTTATTCATCCACTCATGGCAAGAAGGTATAATATATA AACCTCATCAAAAAGTATAATAAACCATCAAATTTGGCATACTTATACAA AATAAAGTTACTGAAAGCATTAGATATGAATAAGCTTTTCCATTTGGAAA TTGCTCTCATATTCATTGAAAATAACCACTTTAGGAGTCAATTAATGAAT TCAACATTATTTTTCTTTCTAAAATAGTCTGGTTTGAAGGATCATGTCAT TCTCTAAAGTATTTTCATTAAATTGCTATTTTG	A A	exon_loss_variant exon_loss_variant	HIGH	HG01192.hp2 HG01192.hp2	a0018 a0018	a0018c0027 a0018c0027	a0018c0027t0001 a0018c0027t0001	a0018c0027t0001g0147 a0018c0027t0001g0147	1	296	0.0034	-1882	c.100 others(17): Show c.1003+774_1105+773del		ANKRD36C	ENSG00000174501.15	transcript	ENST00000295246.7	protein_coding	12/88						chr2	TogoVar
CFAP61_chr20_20047532_20365698	20191665	ATAGCTTT others(1873): Show ATAGCTTTCCACCACCTATACATATATTAATATATTCCATATATTAATAT GTTCTAAGTATTACTACTGTAGTGATGCATTTATACCTTCCAGCATTCTT CTTTGCACTTTATTACATATATCGTGTGTGTGTGTGTGTCAAATGGAAAT GCCATTTTATTTTTTCCCAGTGCACAGCCAGCTATTTCAAAGCATTTATT ACTGAATAATCCATTCGTTCCCTTTTGATTTTAAAATGCTGCTTTTACAT TTATTAAGTTTCTATATGCCTATGTCTATTTTTAAACTCTGTTCTGTTCC GTGGATTTATCTGTTGATACCTATTGCATTATCATGTGCTTTTATATCTA ATAGGGGAGTGTTCTCTCATTTGGTGTCTTCTAAATTTTCTTGTTTTTTG TTCTTGGTTATTTCCTCTCCCAAACCTTGTAATATTTATTATTAATATAA TTGTACCTACGTGGATTCTATAGAACAATTTAGGGAGAATTGACATTAAA ATATAGAGACTTCCCTATTAGGATCATGGATCATGGCTTTCTATGTTGTT GTTGTTGTTGAACTTTTTGGGTTCTTCAAAAACGTCTTGTGGCTTCTTTC ATGTGGTTTTCTTTGCATCGTATTTTGTGCCATATGAGTTTTTGTTTGTC CTGTGGGTCCACTCTCCACCTTTCTCCACCCTGTTCTGTCTCAGGGAGCC TGACTGATGGGCACAGCATTATGGGTACCTTTGCCTTTTGGCTGCCCGTT GGGTTTGGTGGATGGAGAGCCCTGACAGAAGGAGGAGGGGTCAGTGATGT CAGGTGCCTCAGCAGGCTGATTGCCACTGAGTTCCCTGACATTTCAAGGC AGCCTCTTCATGATACTCTTTTGGATTCCTGTAACCAGCCCTCCTCCCGC GCCACCCTCTTAGAGTGGGAGTAGCTTGTAGTTGCTGCTGCACAGTCCCT ACTTATCTCCTTACACCTGCCCCATCCTTGTAAATATTACCTTTGTTAAA CCGCCCTCCAATTATCCTAATCTGATCATACTGTTTCCTGATGAGACCCT GACCTGACACAGTTCTAGACGTTGATCACTTATTTCTACGTGTTTTGTGA TTTCTCTTGGTATTCTGAGTATACACTTTTTCTCATATTTTCTAAATGTT TGTCTTGTGTATGGAAAAGCTACTAGTGTTTGTATTTTGATCTTGTATTC AATCACCTTTATGAAATATCTTTGAGCTTGGAGAGTTTTTCAGCTGATTC TCTTTTCTGCCACAGCCATCACCTCCACCCTATTCTACTGGTCAGACCAG TTAGAGGGCACGCTCAGACACAAGGGGTGGAGGCAGACTTCTCTCGATGG GGGTGTGGCAGAGTCACTTTGCAGAAGAGCATGAGGGATGTGGGATGACA GGTACTGTCCTGGTGGTCATCTTAGGATTCTTTGGATAAGAGAACCTGCT ACACCTTCCTTTTCACTATTTATACCTTTAGTCTTTTTCCAGTTTTAGTG TATGGATAGAACAACATTGAGTAGTAGTGTTAATAATAGCTGGCTTTCTG GTGTTCCTGATTTTAATGGAATGATTCTACACTTTCCTTCATTTAGTGTA ATCGTGGCTGTAGGTTTCTGATAGATATCCCTTATCAAGTAAGGGAAATT TTCTTCTCTTTCTATCTTATTAAAAGTTTTTATTATGAATGAGTGTTGAA TTTTATCAAATGTGTTTTTGACATCGAGATGTTCACATGGCTTTATTTCT TTAATATATTACACACTTTTCTCTTTCTTAGATTTATTGCACTTTTTGAT CCAATATTTCTTGGAGTTAGTTAATCTTTTAGAGATGGTGTTGGGTAGTA AGGTCCCTGAGTCTACACAAATATGATAAGT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp1 HG02280.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0093 a0001c0001t0003g0090 a0001c0001t0003g0093	2	234	0.0085	-1880	c.159 others(18): Show c.1590+248_1590+2127del		CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	15/26					INFO_REALIGN_3_PRIME	chr20	TogoVar
PRKCZ_chr1_2045411_2190395	2122022	GTGGTAGT others(1873): Show GTGGTAGTTAGGTTCATGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCAC GGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTGGTTAGGGTCA CGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTG GTGGTTAGGGTTGTGGTGGTTAGGGTGGTGGTGGTTAGGGTCGTGGCGGT GGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGG TGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGGTGG TTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTG GTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGT GGTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGT GGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGG TGGTTAGGGTCATGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCGTG GTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCACGGT GGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGG TGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTT AGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAG GGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTA GGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGG GTCACGGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGT TAGGGTCACGGCGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGG TGGTTAGGGTCACGGTGGTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGG TTAGGTTCATGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCACGGTGGTA GTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGT GGTAGTTAGGGTCACGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCA CGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGGGTCG TGGTGGTTAGGGTCGTGGCGGTGGTTAGGTTCATGGTGGTGGTTAGGGTC GTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGT CATGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTTAGGG TTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCACGGTGGTGGTTAGG GTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGT TGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCG TGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCACG GTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGT CACGGCGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTA GGGTCACGGCGGTGGTTAGGGTCACGGTGGTAGTTAGGGTGGTGGTGGTT AGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGT GGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGCGG TGGTTAGGGTCACGGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTG GCGGTTAGGGTCACGGCGGCGGTTAGGGTCA	G G	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18964.hp1 NA18945.hp2 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0101 a0001c0002t0001g0097 a0001c0002t0001g0101	2	255	0.0078	-1880	c.335 others(19): Show c.335-13239_335-11360del		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17						chr1	TogoVar
ANKRD36C_chr2_95844548_95996824	95918788	GTTAGATA others(1872): Show GTTAGATATTGAGCAGTTTTTCATTCAGAAATCACTGCAATATTCATTGA AAATGACCATTTTAGGAGTTAATTAGAATTCAACATAATTTTTGTTTCTA AAACATGATACTTCTTGGGAGTATCATGTTAGTCTCTAAAGAAGTTTCAT GAAATAGCTATTTCACCCAAGAGGTAGCTCCTGGAACAAGGAAGCCAATG TATTCATATTCAAGTTTATCTCATTTTTATAAGTAAAGTCAACAAAACAT GTATCTCTGATGCCTAATAGTAACAAAAAGGAGTAATGAGTCAGTGTGCT TTATCCCAATTCTAGCATTGTTTCCTGCTTCCAGTAGTTCCTGGAGCTGC CAAAATCAAATATTTTTTAAGCACATATTCCAAATGCAAGTGAAGTGAGT TCACTCAGATTTCCTCAGCAGAAACCCCTAAATTATATAAATAACTTCTT TTCCCTCCTTCCTGCCTGACAATCCATCATCCTTGGGAAAATAATTGCTA CATCAGGGGTCTCCTTAGTTCTCCTTCTACAGTGTCTATAGGTTATTAAT ATCAGTTTTCTGTCTTTTCTTAGCAGTACGATGTGACGTCTGTAAAATCT GTACTTCCTCTCTTTCTCCTTCCACCCTTAGTGAAACCATGCTGTAGAAT TAATGCAAAACTATGCTGTTCCCCAGAACCCCTTATGTCTTGAACTGCTC TCCCTATTTCTTCTTCCCAATTTCAATGTGGGAAAGTGTATAATCTTACT GCAAAGATCATGTTCCAGGCCAACAGCATTAGCGTCTCCCAAGAAATTTA TTACAAATGAAAAATCTCAGGCCTGCTGAATCAGAATGTGCAGCTTCGGC GACTCCCCCCACCCACCCTCCGCTGATTTATTCGGGATAGAGAAGTTCTT TTTTATCTGGATTGAACATGACATTGAATGTGTTTTGCAAATTACCTGTC TCAGATTTTTCTCCATCCTTTATTTCTGTGGCTATATTCAAAACAGAATC TTCCTCGTCAGTTGTAGCCTGAATGGAATTTGAAAGAAAATAATAAATAA ATAAATCAATGAAGTATGTGTCATAGACTACAATGTAAATGAGAGTTTAA TTACCTTCAAGGCTGGTTGTTTCTGAGAAGACACTGAAAAGCAAAAGGGA TACATAATCACTCATATATAAATATGATAAAGTTATCCATACATTCACAC AGTGTTAGCATCAAGCTGTATCCTTCTGCCTGTACTAGTGTAGGCTCTGA TGTCTTCTACTTTGTGTCTTGGGACTGGAACATGACAGAAATACACTGGT AAGAGGGAATACAGGCTCCATCAAATATATCCTTACAATTTCAAACATGG TATGATTCATCATACGTCAAAAACTAAAATAAAACCGTGTCAATATCAAC GTGGATATGCCGAGTGATGAGGACAAACTGATCTAAAATCGGAGGAGCAA CTCATACACGTGAGAATCAATGTCAAAGCAGGTGCTACATGATCCCACAT GTCTTTCGTGCAACAAATCAAAAGAATTTACATCATTATACTACAAACAT TCATCATGCTCTTTAACTTGCCCAATAACTGAGAAGGCACACAGTTACCA TGGCACTTCAGTTGAATGTACACTTCACATCCCCTTCAGTGGAAGTGTCC TAAATTGATCACCTTGGATATCTGTTTGCTGATACCTAGTAGATAATATT CATTATCTCTCACACCCATGTGGTGTAATAATTTGCCTAAGTTTCTTGTA TCCACTAGTTTATCCCTCTGAAACTTTCTTCATCATGTCATGGCACCAAA GGATAATATATTAGCCTCAATAAAAATATCATCAACTATCAATTTTGACA TACTTCTACAAAGTAAAACTGCTACAAGCA	G G	exon_loss_variant exon_loss_variant	HIGH	HG00140.hp2 HG00544.hp1 HG00558.hp1 others(98): Show HG00140.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01928.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02040.hp1 HG02056.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02622.hp2 HG02818.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03669.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 NA18906.hp2 NA18939.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp2 NA18968.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18981.hp2 NA18982.hp1 NA18986.hp1 NA18987.hp2 NA18993.hp1 NA18999.hp2 NA19001.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19058.hp1 NA19063.hp2 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19080.hp2 NA19083.hp1 NA19085.hp2 NA19089.hp1 NA19091.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0002 a0007 a0014 others(3): Show a0002 a0007 a0014 a0023 a0024 a0025	a0002c0004 a0002c0005 a0002c0007 others(13): Show a0002c0004 a0002c0005 a0002c0007 a0002c0011 a0002c0012 a0002c0013 a0002c0019 a0002c0020 a0002c0025 a0007c0031 a0007c0032 a0007c0035 a0014c0018 a0023c0034 a0024c0030 a0025c0033	a0002c0004t0001 a0002c0005t0001 a0002c0007t0001 others(13): Show a0002c0004t0001 a0002c0005t0001 a0002c0007t0001 a0002c0011t0001 a0002c0012t0001 a0002c0013t0001 a0002c0019t0001 a0002c0020t0001 a0002c0025t0001 a0007c0031t0001 a0007c0032t0001 a0007c0035t0001 a0014c0018t0002 a0023c0034t0001 a0024c0030t0001 a0025c0033t0001	a0002c0004t0001g0007 a0002c0004t0001g0020 a0002c0004t0001g0022 others(95): Show a0002c0004t0001g0007 a0002c0004t0001g0020 a0002c0004t0001g0022 a0002c0004t0001g0023 a0002c0004t0001g0179 a0002c0004t0001g0182 a0002c0004t0001g0183 a0002c0004t0001g0184 a0002c0004t0001g0186 a0002c0004t0001g0187 a0002c0004t0001g0196 a0002c0004t0001g0197 a0002c0004t0001g0198 a0002c0004t0001g0199 a0002c0004t0001g0211 a0002c0004t0001g0225 a0002c0004t0001g0226 a0002c0004t0001g0229 a0002c0004t0001g0230 a0002c0004t0001g0231 a0002c0004t0001g0233 a0002c0004t0001g0234 a0002c0004t0001g0245 a0002c0004t0001g0250 a0002c0004t0001g0251 a0002c0004t0001g0259 a0002c0004t0001g0260 a0002c0004t0001g0261 a0002c0004t0001g0263 a0002c0004t0001g0267 a0002c0005t0001g0181 a0002c0005t0001g0185 a0002c0005t0001g0188 a0002c0005t0001g0190 a0002c0005t0001g0200 a0002c0005t0001g0212 a0002c0005t0001g0213 a0002c0005t0001g0214 a0002c0005t0001g0215 a0002c0005t0001g0217 a0002c0005t0001g0219 a0002c0005t0001g0220 a0002c0005t0001g0221 a0002c0005t0001g0222 a0002c0005t0001g0223 a0002c0005t0001g0224 a0002c0005t0001g0235 a0002c0005t0001g0239 a0002c0005t0001g0240 a0002c0005t0001g0241 a0002c0005t0001g0242 a0002c0005t0001g0243 a0002c0005t0001g0244 a0002c0005t0001g0246 a0002c0005t0001g0247 a0002c0005t0001g0248 a0002c0005t0001g0252 a0002c0005t0001g0253 a0002c0005t0001g0254 a0002c0005t0001g0265 a0002c0005t0001g0268 a0002c0007t0001g0006 a0002c0007t0001g0201 a0002c0007t0001g0202 a0002c0007t0001g0203 a0002c0007t0001g0206 a0002c0007t0001g0207 a0002c0007t0001g0208 a0002c0007t0001g0209 a0002c0007t0001g0210 a0002c0007t0001g0227 a0002c0007t0001g0255 a0002c0007t0001g0256 a0002c0007t0001g0257 a0002c0007t0001g0258 a0002c0011t0001g0005 a0002c0011t0001g0204 a0002c0011t0001g0205 a0002c0012t0001g0180 a0002c0012t0001g0194 a0002c0012t0001g0195 a0002c0012t0001g0228 a0002c0013t0001g0191 a0002c0013t0001g0192 a0002c0013t0001g0262 a0002c0019t0001g0189 a0002c0019t0001g0249 a0002c0020t0001g0218 a0002c0020t0001g0238 a0002c0025t0001g0008 a0007c0031t0001g0237 a0007c0032t0001g0236 a0007c0035t0001g0193 a0014c0018t0002g0232 a0014c0018t0002g0264 a0023c0034t0001g0266 a0024c0030t0001g0216 a0025c0033t0001g0172	101	296	0.3412	-1879	c.224 others(17): Show c.2246-747_2348-747del		ANKRD36C	ENSG00000174501.15	transcript	ENST00000295246.7	protein_coding	36/88						chr2	TogoVar
PCGF3_chr4_700832_775089	745410	TCCGTGGA others(1872): Show TCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGTTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGC AGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGG TCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGC TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTG TTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGT TAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCT GCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGG GGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCCGGGGTCGCTGCAGTGTTAGTGCTCG	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0181 a0001c0001t0061g0181	1	265	0.0038	-1879	c.462 others(16): Show c.462+811_462+2689del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
TFDP2_chr3_141939428_142154544	141965120	TTCACAGC others(1872): Show TTCACAGCTAGAAAGACTGTATGCAGTTCAAGTTTTTCATCTGCTCAAGA AACAGATAACGTTTTAAAAGTTCCTCAAGTCAGAGCCATTCATTCCCCTT CATTAGCTTGTTATAATCTTGTCACCCAGTAGTGATAAATTTATTTTTTA CATTTTAGCAATCTTATGATCAGTATTGTTTATTTCAGGTTCTGGACCTT AACTAAAGTTTCAGTAAGATTACTATTATTGGCCAGGCATGGTAGCTCAC ACCTGTAATCTCAGCACTTTGGGAGGCCGAAGTGGGAAGTTCTCTTGAGC CTAGGAGTTGGAGGATGCAGTGAGCTATGACTGTGCCACTACATTCCAAC CTGGGCAACAGAGCCCTTTCTCAAGAAGAAAAAGAAAAGAAAAAAAGGAA AGAAAAGAAGGGAAGAGAAGGGAGGGGAAGGGGAAGGGGGAGGGGAAGGG GAAGGGGAAGGGGAAGGAAAGGGGAAGGAAAGGAAAGGAAAGGAAAGGAA AGGAAAAAAGAAAAGAAAAGAAAAGATTACTATTATCTTAAAATGGCTGA GTGCTATCTCCCCAAAAGGGGAAGATTTACTCTTTGAAAAGCACAAAAAA TAATGAACACCAATTTATTGTAGACCTAAGTGTGTCCAAAAATCACTATC AATAACTAGCACTATCAATATCATTACCAAACATTATTGAGGTTACATTT CATTATTTTCTGTTGCTAAAAAACGAATTCATTGCTTAATTCCTTTAATA ATGAGGAAAAATTATGATTAAACTGTGGAACTGAGAAAAAGAATTACATG CTTAAATACTCCTGCATAGCTTCTCTTCCCTTTTACTAGAATACACATCT CAAGAGCTGTTCCTACACTTTGCCTAACTTGGTGTCTGTCCCTAGTGCCA CAAGAGGACCCTGGTATATGGGGGAATATAAGCAGTGATAACTAATGGCC CTTATGTATTTGTGATTCACTATTTAATGCTGTGTACATTTAATAGTATC AATGGTTTTTCAAGTGAAGAGAGCAGTAAAAACATAATGTTTTTATTATT ATTATTTATTATTATTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGC TGGAGTACAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGT TCAAATGATTTTCCTGCTTCAGCCTCCCGAGTAGCCGGGACTACAGGCAC CCGCCACCATGCCTGGCTAATTTTTGCATTTTTAGTAGAGGCGGGGTTTT ACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCAC CTCGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACTGCACCTGGT CATAATAATGTTTTTTTTAACACTGTCACAAATTTCATATACCATATAAT GTTATTTTGGATAGTAAAAGGAAAAATAATTCACTTATTTTGAACTGACT TATTTGTTGCCCTTTGATTGATTTCCTTTGGCCTTTTGTTCTTTTTCAAA CTCATTAACATCTATTCCAGAGGCTGAACAGCTTTAAGTGTGTTCATTCA TTTTCCTATGCGTTTATTATGGAAAAGGTTTAAGGGCTGGAAAGGGCAAT TATAGAGATAAAAGTAGGATATTGGGATTATCTACAGGTTTGCTTTACTC ACTCCATTCTTCTACATTACCAAAAATAAAAGAGAGGTGGTAGCAAGGAG GTAATAGTTACCTGTGTCATGTGACATGAGTGAGTTGTGACATGAGCTTA TAAAAAAAAATCAAGTGAGCTTAGCCACAGCAAATGGATTACTTATTAAA AAAAAAAAAAAAAAAAAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGT GCAGTGGTGCAATCTCGGCTCACTGCAACC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19030.hp2 HG03130.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0096 a0001c0001t0004 a0001c0001t0096	a0001c0001t0004g0231 a0001c0001t0096g0232 a0001c0001t0004g0231 a0001c0001t0096g0232	2	250	0.0080	-1879	c.733 others(17): Show c.733-3036_733-1158del		TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	9/12						chr3	TogoVar
HK1_chr10_69273496_69406882	69298907	CACCAAAT others(1871): Show CACCAAATTTTAAAATAGTTCATCTTTATCTCTTTATTTATTTATTTTTT GGAAACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATC TCAGCTCATTGCAACCTCTCCCTCCTGGGTTCAAGTGATTCTTCTGCCTC AGCCTCCCAAGTACCTGGGATTACAGGCGTGCGCCACCATGCCCGACCTA TGTTTTTATTTTTTTTAAATGAAAGTATAATTTACTACCAGTCAAACACA CAAATTCTGTAAGCTTAATAAGTGTGTTGTTGTTGAAACAGGGTCTCGCT CTGTCATGCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCCT CCACCCCGTGGGCTCAAGTGACCCTCCCACCTGGTCTCCCAAGTAGCTGG GACTACAGCCATGTACCAGCCTGCCCATTTTTTTGTTTGTTTGTTTGTGG TTTTTGTTTGTTTGTTTGTTTGTTTGTTTGAGACGGAGTCTCTCTCTGTT GCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCCTGCAACCTTCGCCT CCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGTTGGGATTA CAGGCGTGCGCCACCAGGCCCAGCTAATTTTTGTATTTTTAGTAGAGACG GGGTTTCACCATGTTGGTTAAGTTGGTCTCGAACTCCTGACCTCGTGATT GCCCAGCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCG CCCAGCTTTGTTTGTGTTTTTTTGAGATGGAGTCTCACTCTGTTGCCTGG GCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGGCTCCTGT GTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGC GCCTGCCACTACACCCAGTAATTTTTTGTACTTTTGGTAGAGATGAGGTT TTACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATTCGCCT GCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCCTCAGCCACCGTACCCG GCCTATTTTTAATTTTTTTTTTCAGTAGAGACAGGGTCTTGCCATGTTGC CCCGGCTGGTCTTGAACTCCTGAGCTCAAGCAATCCACCTGCCTCAGCCT CCCAAAGTGCTTGGATTACAGATGTGAGCCACCATGCCCGGCTGTTTAAG AAGTTTTAACACACGTATACACCTATGTAACCGTTGCCCAGTTCAAGATA TAGAACATTTTCATCACCCCCCAAAATCCCTTCACAGTCTTTTCCAGTCA ATACTTCCCATTTCCTGTCCTGACAGTATCACTATTCTGACTTCTATCAC CAGAGCTTTTCCATTCTTGAACCTCATATAAATATAATCATACATATGTA CTCTCTTGTGTCTGGTTTTAATATTTTAATGTTGCTGCATATATCAAAAG GTTATTCCTATGTAATTTTGTTTTTTGCTTTTTTTTCATGAGGCATTTTA TTTGTAAATATGTATAACATCTCTAGAAAAAGAATCCCAGGATTTTCCTT CCTGTGTGTTTTCGTCTTGCTTCTTTATGGTCCATGATGCCAGCTGAGAC TGTCAGTACAATGAAATCAAACTGGCCAGATGGAAGCAGATTATTCTGCA TTTCTCTAGATCTTTGAGTTGCACATCAAATCTGGGGCTGATCATGCCAC ACTTGTTTAGACTGCCTGTGAGGTTCACAACAATTTGCCTAGCTCTGTGA TCATCCATGATTTCAAATTCGCCAATATAACCATGCTTCATCATCACAGT GAGAAACCAGACGATGACTTTGGAGCATGGCCTAAGAACCTGGTGTTTGT CTCTCTTTTCAGCATTGTTGATGCTCTTG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01884.hp1 HG02647.hp2 others(4): Show HG01081.hp2 HG01884.hp1 HG02647.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03453.hp2	a0001 a0001	a0001c0012 a0001c0015 a0001c0023 others(1): Show a0001c0012 a0001c0015 a0001c0023 a0001c0024	a0001c0012t0001 a0001c0015t0001 a0001c0023t0009 others(1): Show a0001c0012t0001 a0001c0015t0001 a0001c0023t0009 a0001c0024t0009	a0001c0012t0001g0148 a0001c0012t0001g0232 a0001c0012t0001g0235 others(4): Show a0001c0012t0001g0148 a0001c0012t0001g0232 a0001c0012t0001g0235 a0001c0015t0001g0234 a0001c0015t0001g0242 a0001c0023t0009g0202 a0001c0024t0009g0236	7	278	0.0252	-1878	c.75+ others(15): Show c.75+3229_75+5106del		HK1	ENSG00000156515.25	transcript	ENST00000643399.2	protein_coding	4/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
IFT88_chr13_20562157_20696444	20682002	TTGTTTTC others(1871): Show TTGTTTTCGGAAAGTGATTATCAAGAACACCTACGAAATCAGCTAAATGG GTTTGCCAAGACTATTTATAAAGTCCTGTTGTGTTAGTGTTTTTGTAAGA GGGACAATAATTTTTCCAGGGTCATATGCATGCAATTTAACAGTTTGGGT TCTCCCATTTCCTACCAGAGTAGCAATTTGATCCAAATAAGGAATTAGAG TCTGTGAATTAGCATGTGGAAGAAAAAGCCATTCTACCAAGTCCTGCTCT TGGACAATAACACCAGTAGGTGAATGCTGTGTCGGAAAAATCAGCAAGTC TAAAGTCTTTGTTGGATCTATTCTATTTATTTGAGTTGTATGCACTTGCT TCTCAATCAGCTGTAAATCTGCCTCAGCTTCCTTTGTTAATTGACAAGGG CTAGTGAGACTAGGATCTCCTCTAAGGATAGAAAATAGATTACTCATGGC ATAGGTAGGAATGCCTAGAGCAGGTTGTATCCAATTAATGTCCCCTGGTA ATTTTTGAAAGTCATTCAGTGTTTTCAATTGATCCCTACTTATGGTTACT TTCTGTGGCACTACTGTAGTGACATTTACTAAGGTCCCCAAGTAGGAGTG AGGAGGAGCAGTCTGAATTTTGTCAGGACCTATAATTAAACCGGCTCGAG AAATCGAGTTTTGTAAGTGATCATAACATTGGAGTAATATTTCCCAAGTC GGGGCAGCACAAAGAATATCATCTATATAATGAATAATGTAACACTGTGA AAATTTTTTACAAGTAGGTTCAATTGCTTGTCCTATATAAGTGACAAATT GTTGGACTGCTTAACATGCCTTGTGGGAGCACTTCCCAGTGAAAACGCTT AGCAGGCTGCAGGTTGTTTACCACAGGAATTGTAAATGCAAACCGTTCAC AGTCTTGCTCAGCTAAGGGGATAGTAAAGAAACAGTTTTTTAAATCTATG ACTATTAAAGGCCAATTTTTAGGAATCATAGTAGGAGAAGGCAATCCTGG CTGCAGTGCCCTCATAAGTTGTATAACTGAATTAATGGCTCTAAGATCTG TCAACATTCTCCATTTACCTGATTTTTTCTTAATAACAAAGACTGGAGAA TTCCAGGGAGAAAATGTTGGAGCTATGTGTCCTTTTTCTAATTGTTCAGT AACTAAGTCCTCTAAAGCCTCCAGTTTCTCTTTACTCAGCGGCCACTGCT CTATCCAAATTGGCTTACCTGTTAACCATTTTAAAGGTATAGGTTCTGGA GGCTTAACAATGACCGCCATCAAAAATGATCTAAACCCTGATGAGAATTC TGTCCTTCCGCTTGAAGCAGTTTCTTTAACCCTTGTAAATTTTTTCCTAA TCCCATGCCAGGCACGTACCCCATCTCTTGTATCATATGCTGACTTTGAG GGCTATATAGTTGCTCAGGAATTAGAACTTGTGCTCCCCATTGCTGTAAT AAATCTCTCCCCTATAAATTTATAGGTACAGAAGTTATAATTGACTGGAT AGTCCCAGGTTGTCCATCGAGTCCTTCACAATGCAAAATATAACTGCTTT GATATACTTCAGGGGTTTTACCAACTCCAACTCTGTTAAATTGAGTGGGT TGAATTGGCCATGCGGATGGCCAGTGCTGTAGAGAAATGATGGAAATGTC CGCTCCTGTATCTACCAATCCTTTCATTCATTTTTTTCCTTGAATGGTTA TTTCACAGGTAGGACATTTATCAGTAATTTGATTCACCCAATAAGCTGCT TTGCCTTGTTTATTTGTGCTTCCAAATCCTCCTGTTTGATTAATTTCACT TTTTCCCATTCCCACATACAGCACAGTCAGGAGCTGTGCTATACGCTCTC CTGGCTCTGCTTTCCAGGGAACAGAAGTA	T T	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	306	0.0033	-1878	c.224 others(19): Show c.2243-8702_2243-6825del		IFT88	ENSG00000032742.18	transcript	ENST00000351808.10	protein_coding	24/25						chr13	TogoVar
PCGF3_chr4_700832_775089	744724	TTCGCCGT others(1871): Show TTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCC GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTG CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTG TTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCT GCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGG GGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTC GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTA GTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGC AGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGG TCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAG TGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCA GTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGGTCGCTGCAGTGTTAGTGC	T T	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0156 a0001c0001t0007g0156	1	142	0.0070	-1878	c.462 others(15): Show c.462+93_462+1970del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
SGSM2_chr17_2332501_2386054	2349248	CGCCTGTA others(1870): Show CGCCTGTAATCCCAGCTCTTTGGGAGGCTGAGGCAGGAGAATCACTTGAA CCTGAGAGATGGAGGTTTCAGTGAGCGAGATTGTGCTGCTGCACTCCAGC CTGGGCGACAGAGCGAGACTTGGTCTAAAAAAAAAAAGTGACCTTACAAC CTTTCCTATAAAGCCTCCTCGAGCCTTCCCCAGGATTCCATCTGGGAATC TGTGTTTCTGGAAGTTTGGAGCATCTGGAGAATCAGAAATTTGAACATCA GGAACTCAATAAGGAAATTTGATAATATAAAGGAATTGTTACCAATTTTG TCAGTGTAATAGAGGTATAAGTGCATGTTTTTAAGAGTCCTCTTTCAGAG ATAAATATATATGATGTCTAAAATTTGCTTCAGAATAATCCAGTGGTAGG AAACAATGGTTGCAGGCGGAGGAGCTGAAGCAAGATGGTCGTGACTTGAT CATTGTTGAAGCTGGGTAATGAGTACATGGGCAGCTGTTATACTGTCCCC TTTTCCTTCTGTATATGGTTGGAATTTTCCCTAGTGAAATGTTTTGTTTT TTTTTTTTGAGATGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAATGG AGCGGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTC CTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACGCT CGGCTAATTTTTTGTATTTTTAGTAGACATGGGGTTTCACCGTGTTAGCC AGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTAAGCCACCACGCCTGGCCTAATTTTTGTA TTTTAGTAGAGATGGGATTTCACCATGATGCCCAGACTGGTCTCAAACTC CTGACCTCAGGTGATCCACCTGCCTCGGTCTCCCAAAGTGCTGGGATTAC AGGTGTGAGCCACTGCATTTGGCCTAGAATGTTTATATTCACATGGGAAG TATCTAATAGGGAAAAATTGCAGGCATAAAAAAGAGAAGAGAAGTTTGCT GGAGGAGCGTCTTTGAAAAGGTGCAAGGGAGGTGGGGTGCGGTGGCTCAC ACCTGTAATCGCAGCACTTTGAGAGGCCAAGGCAGGTGGATCACCTGAGG TCAGGAGTTCTAGACCAGCCTGGCCAATATAGTGAAACCCTGTCTCTACA AAAAATACAAAAATGTGCCGGGTGTGGTGGCGCACGTCTATAATTCCAAC TGCTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGTGGTGGAGGT TGCAGTGAGCCGAGACCGTACCACTGCACCACTGTACTCCAGCCTGGGCG ACAGAGTGAGACTCTGTCTCAAAAAAAACAAAAAAACAAGACATAAGAAA TGGTGCAGGGGCAGCACTCCAGCCTCCAGCGTGCCGGTGGAAGGTGACCT CAGAGACAAGTCCAACTAGACCATCCCTAGGAACGAGAGGAAGGCAGGGA CTGGGCATGAGGTGCAGGGAGGGAAGGCACCTGCATTCATCAGTCCCCTT CGGTGTGGTAGGCAGGGGCCGAGAAGCCTTTCACACCTTGGGATATGCTG TTACTTTTCATCACCCAGCATCCATTGAGGTAGACCCTGATTTTCTCCCT AATTACATCAGAAGCTCAGAGAGGTTTAGTGACTTGACCAAAGTCAAACA GCCAGTAAGGAGAGGAGCCCGTGGGCTGGGCGTGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCTGAGGAGGGTGGATCACTTGAGGTCAGGAG TTCGAGACCAGCCTGGCCATCATGGTAAAACCCCTTCTCTACTAAAAATA CAAAAATTAGCCGGCCATGATGGTGGGT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0041 a0002c0041	a0002c0041t0001 a0002c0041t0001	a0002c0041t0001g0309 a0002c0041t0001g0309	1	420	0.0024	-1877	c.133 others(17): Show c.133+5645_133+7521del		SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
ANKRD36C_chr2_95844548_95996824	95907191	GTCTTTCA others(1867): Show GTCTTTCATGCAACAAATCAAAAGGATTTACACCATTATACTACAAACAT TCATCATGCTCTTTAACTTGCCCAATAACTGAGAAGGCACACAATTACGA TGACACTCCAGCTGAACGTACACTTAACATATCTTCAGTGGAAGTGTCCT GAATTGATCACCTTGGATATCTGTTTGCTGATACCTAGTAGATAATATTC ATTATCTCTCACACCCATGTAGTGTAATAATTTGCCTAAGTTTCATGTAT CCACTAGTTTAGGCTTCCGAAAGTTTCTTCATCCACTCTTGGCACCAAAG GATAATATATTAGCCTCAATAAAAATATCATCAATTATCAACTTTGACAT GCTTCTACAAAGTGAAATGGCTACAAGCATTAGATATTAATCAGTTTTTC ATTCAGAAATCACTGCAATATTCATTGAAAATGACCATTTTAGGAGTTAG TTAGAATTCAACATCATTCTTGTGTCTAAAATACTCTTGTTGGGAGTATC GTGTTATTCTCTAAAGAAGTTTCATTAAATAGCTATTTTATCCAAGAGGT AGCTCCTTGAACAAGGAAACAAATTTATTCATATTCAAGATTATCTCATT TTTATAACTAAAATCAACAAAACATGTATCTCTGATGCCTCCTAGTAACC AAGAGGAGTAATGAGTCAGTGTGGTGGTGTATTCCAATTATACCATTGTT TCCTGCTTCCAGTAGTTCCTGGAGCAGCCAAAATCAAATATTTGTTATGA AAATATTCCAAATGCATCTGAAGTGAGTTCACTCAGGTTTTCTCAGCAGA AACCCCAAAATTATATAAATGACTTCCTCTTTTCACACCTTCCTGCCTCA CAATCTGTCTTCCTTAGGAAAATAGTTGCTACACCAGGGGTCTCCTTAGT TCTCCTAACAGTGTCTACGGGTTGTTACAACAAGCTTTCTGTCTTTTCTT GGCAGTACGATCTGAAGTGTGTAAATTCTATACTTCCTCTCTTTCTCCTT CCACCCTTACTGAAAACAAGCTGGAGAATTAAAGCAAAATTATGTTGTTC CCCAGAGCCCCTTATGCCTTGAACTGCTCTCCATATTTCTTCTTCCCAAT TTCAATATGGGGAAGTGTATAATCTTACGGCGAAGATCATGTTCCAGACC AGCAGCATCATCATCACCCAAGAACTTATTTGAAATGAAGAATCTCAGGA CTGCTGAATCAGAATGTGCAGCTTCAACGAGCCCCCCGCTGATTTATTCA CGGAAGAGAATTTCTTATCTATCTGGACTGAACATGACATTAAATCTCTT TTCAAAATTACCTCTCCTAGTTTTTTCTCCATGCTTTTTTCCTCTGGCTA TATTCAAAAGAGAATCTTTCTCATCTCTTGTAGCCTGAATGGAATTTGAA ATGCAATAATAAATTAATAAAGTATGTTTCATAGACTATACATTTACTAG TTCACAACATAAATGACAGTTTCATTACCTTCAAGCCTGGTGGTTGCTCA GAAGACACTGAAAAGTAAAAGGGATTCATAATCACTCATATGTAAAAATG ACAAAATTATCCACATATTCATGCAGTGTTAGCATCAACCTCTGTCCTCC TGCCTGTATTAGCGTAGGCTTTGATGGCTTCTACTTTGTGTCTGGGGACT AGAACATGACAGAAATACGCTGAGAAAAGGGAATACAGGCTCCACGAAAT ATAGTCTTAGAATTTCAAACATGGTATGATTTGTCATATGCCAAAAACTA AAATAAAACCATGTCAATATCAACGTGGATATGCCGAGTGATGAGGACAA AGTGATCTAAAATCAGAGGAGCAACACATACACCTGAGAATCAATGTCAA AGCAGGTGCTACATGATCCCACTTA	G G	exon_loss_variant exon_loss_variant	HIGH	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0014 a0014	a0014c0018 a0014c0018	a0014c0018t0002 a0014c0018t0002	a0014c0018t0002g0232 a0014c0018t0002g0264 a0014c0018t0002g0232 a0014c0018t0002g0264	2	296	0.0068	-1874	c.285 others(17): Show c.2858-368_2960-370del		ANKRD36C	ENSG00000174501.15	transcript	ENST00000295246.7	protein_coding	48/88						chr2	TogoVar
ANKRD36C_chr2_95844548_95996824	95919022	AAAGTCAA others(1867): Show AAAGTCAACAAAACATGTATCTCTGATGCCTAATAGTAACAAAAAGGAGT AATGAGTCAGTGTGCTTTATCCCAATTCTAGCATTGTTTCCTGCTTCCAG TAGTTCCTGGAGCTGCCAAAATCAAATATTTTTTAAGCACATATTCCAAA TGCAAGTGAAGTGAGTTCACTCAGATTTCCTCAGCAGAAACCCCTAAATT ATATAAATAACTTCTTTTCCCTCCTTCCTGCCTGACAATCCATCATCCTT GGGAAAATAATTGCTACATCAGGGGTCTCCTTAGTTCTCCTTCTACAGTG TCTATAGGTTATTAATATCAGTTTTCTGTCTTTTCTTAGCAGTACGATGT GACGTCTGTAAAATCTGTACTTCCTCTCTTTCTCCTTCCACCCTTAGTGA AACCATGCTGTAGAATTAATGCAAAACTATGCTGTTCCCCAGAACCCCTT ATGTCTTGAACTGCTCTCCCTATTTCTTCTTCCCAATTTCAATGTGGGAA AGTGTATAATCTTACTGCAAAGATCATGTTCCAGGCCAACAGCATTAGCG TCTCCCAAGAAATTTATTACAAATGAAAAATCTCAGGCCTGCTGAATCAG AATGTGCAGCTTCGGCGACTCCCCCCACCCACCCTCCGCTGATTTATTCG GGATAGAGAAGTTCTTTTTTATCTGGATTGAACATGACATTGAATGTGTT TTGCAAATTACCTGTCTCAGATTTTTCTCCATCCTTTATTTCTGTGGCTA TATTCAAAACAGAATCTTCCTCGTCAGTTGTAGCCTGAATGGAATTTGAA AGAAAATAATAAATAAATAAATCAATGAAGTATGTGTCATAGACTACAAT GTAAATGAGAGTTTAATTACCTTCAAGGCTGGTTGTTTCTGAGAAGACAC TGAAAAGCAAAAGGGATACATAATCACTCATATATAAATATGATAAAGTT ATCCATACATTCACACAGTGTTAGCATCAAGCTGTATCCTTCTGCCTGTA CTAGTGTAGGCTCTGATGTCTTCTACTTTGTGTCTTGGGACTGGAACATG ACAGAAATACACTGGTAAGAGGGAATACAGGCTCCATCAAATATATCCTT ACAATTTCAAACATGGTATGATTCATCATACGTCAAAAACTAAAATAAAA CCGTGTCAATATCAACGTGGATATGCCGAGTGATGAGGACAAACTGATCT AAAATCGGAGGAGCAACTCATACACGTGAGAATCAATGTCAAAGCAGGTG CTACATGATCCCACATGTCTTTCGTGCAACAAATCAAAAGAATTTACATC ATTATACTACAAACATTCATCATGCTCTTTAACTTGCCCAATAACTGAGA AGGCACACAGTTACCATGGCACTTCAGTTGAATGTACACTTCACATCCCC TTCAGTGGAAGTGTCCTAAATTGATCACCTTGGATATCTGTTTGCTGATA CCTAGTAGATAATATTCATTATCTCTCACACCCATGTGGTGTAATAATTT GCCTAAGTTTCTTGTATCCACTAGTTTATCCCTCTGAAACTTTCTTCATC ATGTCATGGCACCAAAGGATAATATATTAGCCTCAATAAAAATATCATCA ACTATCAATTTTGACATACTTCTACAAAGTAAAACTGCTACAAGCATTAG ATATTGAGCAGTTTTTCATTCAGAAATCACTGCAATATTCATTGAAAATG ACCATTTTAGGAGTTAATTAGAATTCAACATAATTTTTGTTTCTAAAACA TGATACTTCTTGGGAGTATCATGTTAGTCTCTAAAGAAGTTTCATGAAAT AGCTATTTTATCCAAGAGATAGCTCCTGGAACAAGGAAGCCAATGTATTC ATATTCAAGTTTATCTCATTTTTAT	A A	exon_loss_variant exon_loss_variant	HIGH	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	296	0.0034	-1874	c.224 others(17): Show c.2245+711_2347+710del		ANKRD36C	ENSG00000174501.15	transcript	ENST00000295246.7	protein_coding	36/88						chr2	TogoVar
ANKRD36C_chr2_95844548_95996824	95919176	AGTGAAGT others(1867): Show AGTGAAGTGAGTTCACTCAGATTTCCTCAGCAGAAACCCCTAAATTATAT AAATAACTTCTTTTCCCTCCTTCCTGCCTGACAATCCATCATCCTTGGGA AAATAATTGCTACATCAGGGGTCTCCTTAGTTCTCCTTCTACAGTGTCTA TAGGTTATTAATATCAGTTTTCTGTCTTTTCTTAGCAGTACGATGTGACG TCTGTAAAATCTGTACTTCCTCTCTTTCTCCTTCCACCCTTAGTGAAACC ATGCTGTAGAATTAATGCAAAACTATGCTGTTCCCCAGAACCCCTTATGT CTTGAACTGCTCTCCCTATTTCTTCTTCCCAATTTCAATGTGGGAAAGTG TATAATCTTACTGCAAAGATCATGTTCCAGGCCAACAGCATTAGCGTCTC CCAAGAAATTTATTACAAATGAAAAATCTCAGGCCTGCTGAATCAGAATG TGCAGCTTCGGCGACTCCCCCCACCCACCCTCCGCTGATTTATTCGGGAT AGAGAAGTTCTTTTTTATCTGGATTGAACATGACATTGAATGTGTTTTGC AAATTACCTGTCTCAGATTTTTCTCCATCCTTTATTTCTGTGGCTATATT CAAAACAGAATCTTCCTCGTCAGTTGTAGCCTGAATGGAATTTGAAAGAA AATAATAAATAAATAAATCAATGAAGTATGTGTCATAGACTACAATGTAA ATGAGAGTTTAATTACCTTCAAGGCTGGTTGTTTCTGAGAAGACACTGAA AAGCAAAAGGGATACATAATCACTCATATATAAATATGATAAAGTTATCC ATACATTCACACAGTGTTAGCATCAAGCTGTATCCTTCTGCCTGTACTAG TGTAGGCTCTGATGTCTTCTACTTTGTGTCTTGGGACTGGAACATGACAG AAATACACTGGTAAGAGGGAATACAGGCTCCATCAAATATATCCTTACAA TTTCAAACATGGTATGATTCATCATACGTCAAAAACTAAAATAAAACCGT GTCAATATCAACGTGGATATGCCGAGTGATGAGGACAAACTGATCTAAAA TCGGAGGAGCAACTCATACACGTGAGAATCAATGTCAAAGCAGGTGCTAC ATGATCCCACATGTCTTTCGTGCAACAAATCAAAAGAATTTACATCATTA TACTACAAACATTCATCATGCTCTTTAACTTGCCCAATAACTGAGAAGGC ACACAGTTACCATGGCACTTCAGTTGAATGTACACTTCACATCCCCTTCA GTGGAAGTGTCCTAAATTGATCACCTTGGATATCTGTTTGCTGATACCTA GTAGATAATATTCATTATCTCTCACACCCATGTGGTGTAATAATTTGCCT AAGTTTCTTGTATCCACTAGTTTATCCCTCTGAAACTTTCTTCATCATGT CATGGCACCAAAGGATAATATATTAGCCTCAATAAAAATATCATCAACTA TCAATTTTGACATACTTCTACAAAGTAAAACTGCTACAAGCATTAGATAT TGAGCAGTTTTTCATTCAGAAATCACTGCAATATTCATTGAAAATGACCA TTTTAGGAGTTAATTAGAATTCAACATAATTTTTGTTTCTAAAACATGAT ACTTCTTGGGAGTATCATGTTAGTCTCTAAAGAAGTTTCATGAAATAGCT ATTTTATCCAAGAGATAGCTCCTGGAACAAGGAAGCCAATGTATTCATAT TCAAGTTTATCTCATTTTTATAAGTCAACAAAACATGTATCTCTGATGCC TAATAGTAACAAAAAGGAGTAATGAGTCAGTGTGCTTTATCCCAATTCTA GCATTGTTTCCTGCTTCCAGTAGTTCCTGGAGCTGCCAAAATCAAATATT TTTTAGGCACATATTCCAAATGCAT	A A	exon_loss_variant exon_loss_variant	HIGH	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0269 a0001c0003t0001g0269	1	296	0.0034	-1874	c.224 others(17): Show c.2245+557_2347+556del		ANKRD36C	ENSG00000174501.15	transcript	ENST00000295246.7	protein_coding	36/88						chr2	TogoVar
ANKRD36C_chr2_95844548_95996824	95919311	CTTCTACA others(1867): Show CTTCTACAGTGTCTATAGGTTATTAATATCAGTTTTCTGTCTTTTCTTAG CAGTACGATGTGACGTCTGTAAAATCTGTACTTCCTCTCTTTCTCCTTCC ACCCTTAGTGAAACCATGCTGTAGAATTAATGCAAAACTATGCTGTTCCC CAGAACCCCTTATGTCTTGAACTGCTCTCCCTATTTCTTCTTCCCAATTT CAATGTGGGAAAGTGTATAATCTTACTGCAAAGATCATGTTCCAGGCCAA CAGCATTAGCGTCTCCCAAGAAATTTATTACAAATGAAAAATCTCAGGCC TGCTGAATCAGAATGTGCAGCTTCGGCGACTCCCCCCACCCACCCTCCGC TGATTTATTCGGGATAGAGAAGTTCTTTTTTATCTGGATTGAACATGACA TTGAATGTGTTTTGCAAATTACCTGTCTCAGATTTTTCTCCATCCTTTAT TTCTGTGGCTATATTCAAAACAGAATCTTCCTCGTCAGTTGTAGCCTGAA TGGAATTTGAAAGAAAATAATAAATAAATAAATCAATGAAGTATGTGTCA TAGACTACAATGTAAATGAGAGTTTAATTACCTTCAAGGCTGGTTGTTTC TGAGAAGACACTGAAAAGCAAAAGGGATACATAATCACTCATATATAAAT ATGATAAAGTTATCCATACATTCACACAGTGTTAGCATCAAGCTGTATCC TTCTGCCTGTACTAGTGTAGGCTCTGATGTCTTCTACTTTGTGTCTTGGG ACTGGAACATGACAGAAATACACTGGTAAGAGGGAATACAGGCTCCATCA AATATATCCTTACAATTTCAAACATGGTATGATTCATCATACGTCAAAAA CTAAAATAAAACCGTGTCAATATCAACGTGGATATGCCGAGTGATGAGGA CAAACTGATCTAAAATCGGAGGAGCAACTCATACACGTGAGAATCAATGT CAAAGCAGGTGCTACATGATCCCACATGTCTTTCGTGCAACAAATCAAAA GAATTTACATCATTATACTACAAACATTCATCATGCTCTTTAACTTGCCC AATAACTGAGAAGGCACACAGTTACCATGGCACTTCAGTTGAATGTACAC TTCACATCCCCTTCAGTGGAAGTGTCCTAAATTGATCACCTTGGATATCT GTTTGCTGATACCTAGTAGATAATATTCATTATCTCTCACACCCATGTGG TGTAATAATTTGCCTAAGTTTCTTGTATCCACTAGTTTATCCCTCTGAAA CTTTCTTCATCATGTCATGGCACCAAAGGATAATATATTAGCCTCAATAA AAATATCATCAACTATCAATTTTGACATACTTCTACAAAGTAAAACTGCT ACAAGCATTAGATATTGAGCAGTTTTTCATTCAGAAATCACTGCAATATT CATTGAAAATGACCATTTTAGGAGTTAATTAGAATTCAACATAATTTTTG TTTCTAAAACATGATACTTCTTGGGAGTATCATGTTAGTCTCTAAAGAAG TTTCATGAAATAGCTATTTTATCCAAGAGATAGCTCCTGGAACAAGGAAG CCAATGTATTCATATTCAAGTTTATCTCATTTTTATAAGTCAACAAAACA TGTATCTCTGATGCCTAATAGTAACAAAAAGGAGTAATGAGTCAGTGTGC TTTATCCCAATTCTAGCATTGTTTCCTGCTTCCAGTAGTTCCTGGAGCTG CCAAAATCAAATATTTTTTAGGCACATATTCCAAATGCATGTGAAGTGAG TTCACTCAGATTTCCTCAGCAGAAACCCCTAAATTATATAAATAACTTCT TTTCCCTCCTTCCTGTCTGACAATCCATCTTCCTTGGGAAAATAATTGCT ACATCAGGGATCTCCTTAGTTCTCA	C C	exon_loss_variant exon_loss_variant	HIGH	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	296	0.0034	-1874	c.224 others(17): Show c.2245+422_2347+421del		ANKRD36C	ENSG00000174501.15	transcript	ENST00000295246.7	protein_coding	36/88						chr2	TogoVar
ANKRD36C_chr2_95844548_95996824	95919491	CTATTTCT others(1867): Show CTATTTCTTCTTCCCAATTTCAATGTGGGAAAGTGTATAATCTTACTGCA AAGATCATGTTCCAGGCCAACAGCATTAGCGTCTCCCAAGAAATTTATTA CAAATGAAAAATCTCAGGCCTGCTGAATCAGAATGTGCAGCTTCGGCGAC TCCCCCCACCCACCCTCCGCTGATTTATTCGGGATAGAGAAGTTCTTTTT TATCTGGATTGAACATGACATTGAATGTGTTTTGCAAATTACCTGTCTCA GATTTTTCTCCATCCTTTATTTCTGTGGCTATATTCAAAACAGAATCTTC CTCGTCAGTTGTAGCCTGAATGGAATTTGAAAGAAAATAATAAATAAATA AATCAATGAAGTATGTGTCATAGACTACAATGTAAATGAGAGTTTAATTA CCTTCAAGGCTGGTTGTTTCTGAGAAGACACTGAAAAGCAAAAGGGATAC ATAATCACTCATATATAAATATGATAAAGTTATCCATACATTCACACAGT GTTAGCATCAAGCTGTATCCTTCTGCCTGTACTAGTGTAGGCTCTGATGT CTTCTACTTTGTGTCTTGGGACTGGAACATGACAGAAATACACTGGTAAG AGGGAATACAGGCTCCATCAAATATATCCTTACAATTTCAAACATGGTAT GATTCATCATACGTCAAAAACTAAAATAAAACCGTGTCAATATCAACGTG GATATGCCGAGTGATGAGGACAAACTGATCTAAAATCGGAGGAGCAACTC ATACACGTGAGAATCAATGTCAAAGCAGGTGCTACATGATCCCACATGTC TTTCGTGCAACAAATCAAAAGAATTTACATCATTATACTACAAACATTCA TCATGCTCTTTAACTTGCCCAATAACTGAGAAGGCACACAGTTACCATGG CACTTCAGTTGAATGTACACTTCACATCCCCTTCAGTGGAAGTGTCCTAA ATTGATCACCTTGGATATCTGTTTGCTGATACCTAGTAGATAATATTCAT TATCTCTCACACCCATGTGGTGTAATAATTTGCCTAAGTTTCTTGTATCC ACTAGTTTATCCCTCTGAAACTTTCTTCATCATGTCATGGCACCAAAGGA TAATATATTAGCCTCAATAAAAATATCATCAACTATCAATTTTGACATAC TTCTACAAAGTAAAACTGCTACAAGCATTAGATATTGAGCAGTTTTTCAT TCAGAAATCACTGCAATATTCATTGAAAATGACCATTTTAGGAGTTAATT AGAATTCAACATAATTTTTGTTTCTAAAACATGATACTTCTTGGGAGTAT CATGTTAGTCTCTAAAGAAGTTTCATGAAATAGCTATTTTATCCAAGAGA TAGCTCCTGGAACAAGGAAGCCAATGTATTCATATTCAAGTTTATCTCAT TTTTATAAGTCAACAAAACATGTATCTCTGATGCCTAATAGTAACAAAAA GGAGTAATGAGTCAGTGTGCTTTATCCCAATTCTAGCATTGTTTCCTGCT TCCAGTAGTTCCTGGAGCTGCCAAAATCAAATATTTTTTAGGCACATATT CCAAATGCATGTGAAGTGAGTTCACTCAGATTTCCTCAGCAGAAACCCCT AAATTATATAAATAACTTCTTTTCCCTCCTTCCTGTCTGACAATCCATCT TCCTTGGGAAAATAATTGCTACATCAGGGATCTCCTTAGTTCTCATTCTA CAGTGTCTATGGGTTATTACTATCAGTTTTCTGTCTTTTCTCAGCAGTAC GATGTGATGTCTGTAAAATCTATACTTCCTCTCTTTCTCCTTCCACCCTT AGTGAAACCATGCTGTAGAATTAAAGCAAAACTATGCTGTTCCCCAGAGC CCCTTATGTCTTGAACCTCTCTCCA	C C	exon_loss_variant exon_loss_variant	HIGH	HG01884.hp2 HG02109.hp2 HG02257.hp1 others(7): Show HG01884.hp2 HG02109.hp2 HG02257.hp1 HG02965.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03516.hp2 HG03579.hp1 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0008 a0001c0048 a0004c0054 a0001c0008 a0001c0048 a0004c0054	a0001c0008t0001 a0001c0048t0001 a0004c0054t0001 a0001c0008t0001 a0001c0048t0001 a0004c0054t0001	a0001c0008t0001g0002 a0001c0008t0001g0272 a0001c0008t0001g0274 others(5): Show a0001c0008t0001g0002 a0001c0008t0001g0272 a0001c0008t0001g0274 a0001c0008t0001g0278 a0001c0008t0001g0279 a0001c0008t0001g0280 a0001c0048t0001g0271 a0004c0054t0001g0273	10	295	0.0339	-1874	c.224 others(17): Show c.2245+242_2347+241del		ANKRD36C	ENSG00000174501.15	transcript	ENST00000295246.7	protein_coding	36/88						chr2	TogoVar
ACAP3_chr1_1287391_1312930	1288255	TCCCGTGT others(1866): Show TCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCC GAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCT GTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCC CCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCG TGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	271	0.0037	-1873	c.34 others(11): Show c.3436_*5308del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					4135		chr1	TogoVar
MYO10_chr5_16656907_16941288	16889478	AGAAGGAA others(1866): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGGCGGACGAAAGGAAGGAAAGGAAGGAAAGAAAGAAAGAAAAC AGCAGAACAAGCCAAGAAAGACAAGTAAGTAAATGGAGCTAGGAGACACA GATTTTATAAAATGTATAAAACTGTCCCACTAAGAACTCTCAAAAACTAG TGGGAAATCCTGTTTTTAAAGCACACAAAACAAAACAGCTGGTTTAAGAA CTGCATTCCACTCCTCTTGGTGGAAGCAGTAGGAGGTACAGGACAGAAAG GGCAATAAAAGACCAGCACAAGATGTTTGCACTCTGCGTGAAATCTGATA CCAGACATCCTTACCTCCCATTTCCCAGTTTATTGTCCTTTCCTCCTCTT GATAAGAATCATTTTTGTGGGGAGAGGGGGAGAGAAATGCCTACAAATAA ACAAACTGATAAGATTTTCTTAATGGAATCCCAGTTGTGTTCTGGCTACC ATCTGTTTTCAGAAAAAATACACAAGTATGCTCAGAACAGGAGTTTGTTG TTACTTCATAAAAATGAACGACCCAAGAACACAGTGGGAAGAAAATAAAC TTAAAACAGCCATTTGTCATTTCTGTTTCATACATATTAATTAATTCCTT TGCAGATTTCTATCACATATCGAAAACAAATTTTTTTTCACAAAATCATA CTTCCTGGATTAAAAGGTACATAAAAGATAACCTAGTCCAATCAAAATGA CACATAATGTGTTGGCAAGAATGTGGAGAAACTAGAACCCTCGTGCACTG CTGCTAAGAATGTGAAATGATGCAGCTGCTGTGGAAAACAGTTTGGCAGT TCCTCAAAAAGTAAAATATAGAGTTAACCATATGACCCAGAAATTCCACT GCTAGGTAAATACCCCAGAGACGTGAAAACATATGTCCACACGAAAACTT GTACACAAATGTTCATAGCAGCATTATGTGCAATAGCCTGAAAGCAGAAA CAACCCTCATGTTCATCAACTAGTGAATGGATTTTTTTTTAATGTGGTCT ATTCATACAATGGAATATTATTCAACTATAAGGTTGACGTGGTGGCTCAC GCTTGTAATCCCAGAACTTTGGGAGGCCGGGGCAGGCAGATCACCTGAGG TCAGGAGTTCGAGACCAGCCTGGCCAACACGGAGAAACCCTATCTCCACT AAAAATACAAAAATTAGCCAGGTGTGGTGGCACATGCCTGTAACCCCAGC TACTCTGGAGGCTGAGACAGGAGAATCACTTGAACCCGAGAAGCAGAGGT TGCAGGGAGCCAAGATCATGCCACTGCATTCCAGCCTGGGCGGCAGAGCA AGACTCTGTCTCAAAAAATAAAATAAAATAAAAATGAACAGAGAACTGAT ACATGCTATAACATGGATGAGCCTAGAAAACACTATGCTAAGTAGAAGAA GGCAGTCACAAAGGACCACATGTTGTATGACTCCATTTATATGAAGAAGT TAAATCCATAGAGACAGAAAGTTGGTCAGGCACGGTGGCTCACATCTGTA ATCCCAGTACTTTGGGAGGCCGATACAGGCGGATCACATGAGGTCAGGTG TTAGAGACCGGCCTGACTAACGTGGTGAAACCCAGTCTCCACTAAAACAT AACATTAGAAAATTAGCCAGGCGCGGTAGCAGGTGCCTGTAATCCCAGCT ACTTGAGGCTGAGGCAGGAGAATTGCTTGAACTCTTGAACTCAGGAGGCA GAGGTTGCAGGAAGTCAAGATTGTGCCATTGCACTCCAGCCTGGATGACA GAGTGAGACTCCGTCTTGAAAGAGAGAGAAAAGGAGAAGAGAAAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp1 HG02717.hp1 others(6): Show HG01884.hp1 HG02559.hp1 HG02717.hp1 HG02895.hp2 HG02897.hp2 HG03139.hp1 HG03486.hp1 HG06807.hp1 NA18522.hp1	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0030	a0001c0001 a0001c0022 a0002c0002 others(4): Show a0001c0001 a0001c0022 a0002c0002 a0002c0026 a0010c0014 a0010c0066 a0030c0040	a0001c0001t0160 a0001c0022t0156 a0002c0002t0159 others(5): Show a0001c0001t0160 a0001c0022t0156 a0002c0002t0159 a0002c0026t0121 a0010c0014t0038 a0010c0014t0158 a0010c0066t0155 a0030c0040t0161	a0001c0001t0160g0269 a0001c0022t0156g0265 a0002c0002t0159g0267 others(6): Show a0001c0001t0160g0269 a0001c0022t0156g0265 a0002c0002t0159g0267 a0002c0026t0121g0158 a0010c0014t0038g0266 a0010c0014t0038g0272 a0010c0014t0158g0264 a0010c0066t0155g0271 a0030c0040t0161g0270	9	47	0.1915	-1873	c.22- others(17): Show c.22-13644_22-11772del		MYO10	ENSG00000145555.15	transcript	ENST00000513610.6	protein_coding	1/40						chr5	TogoVar
RABGAP1L_chr1_174154520_175000308	174493201	TTAAACAA others(1866): Show TTAAACAAAATTTTAGCCAGGTGTGTTGGTACATGCCTGTAGTCCTAGCT ACTTGGGAGACTGAGGTGGGGAGGTGCTTGAGCTTAGGAGTTTGAGGCTG CAGTGAGCTAGAATCACACTACTGTACTTCAGCCTGGGCAACAGAGCAGA GAAAAATATATAAGAAAATTTATATCTAGAATAACACTCATGAAATTTAC TAGTAATCTCAGATGTGTCCAAAATAATACTCTCAGTCTAGGTAGATATG AATATTGTTTTTAGGTTGTTTATTAGCTCATTTGTTGAAGTTCATAGCCC TACCCAATATTAAAGTTGATGATAATTTTATAGGCTTGGCCAGATGTGGT GGTTCATGCGTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATTG CTTGAGTCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAAACTTTGT CTCTACTGAAAATACGAAAAATCAGCCTGGCATGGTGGTGTGCACCTGTA GTTTCAGCTACTTGGGAGGCTGAGGTGGGAGAATCACCTGACTCCGTGAG GTTGAGGCTGCAGTGAGCCGAGATCATGTCAGTGCACTTCAGCCTGGGAA ATGGGAGTGAGACCCTGTCTGAAAAAAAAAAAAAAAAAAAAGTATAGGCA GAATGTAACCTCCTGTAACAGCAAAATCTACTTTTAAGTAAGGTATTTGA GGTTTATCCAGAGTTCAAAGTTGACATCTTGACATTGTTTCACATTTATA TTTGAACTTAAATACTTTTTGGCAGTTGCCATTTTTCAGTTAGATGGTAT TTTTCAAACAAATAATTTTATTTTTTCTGACTTTCCTTCTTTGGAGCCTA GTAATTTTGGGAGTATATATTTAGAACATCGTGTATAGTTTTTTAAGAAA GAAAATGGCATTGATCTATTTCTTTTGAAAATAATACTCTGTTGGTGGTT TGGAAAGGTTTATGTAGAGGTAAATGGGTTTATGTCTGTTGATGGGCTCC TGCAGATAAAGCCACAGACATCTTCAGCCATGCTGCTTTTGTGTTGATGT TCTGTTTTTCCCTTGGGACAATAGGTGCTGTTCCTTGTAAAAATATGATA GGAAAGGAAATTTGTTCTGTTTTGCTGCTATTTAAAGCACCACAGACCTG CTCAGTAGACTTTGACACTCTATTCATCTCATCCTCCGTTGAATTATTGT TGTTGTTTTATTAGGGAAAAGTTTTCCTTGGAGATAATTCCTACAAAGTA ATTATAATTTACAAAGTTTTCTTGGTTTTCCATGTGAAATGAAATTATTT CTGGAGATTTGGGCCTATGAATATCTGGTTTCAGAGTCTTAATCATTAAT TGTTTTGCCTCCTATTTAGATGATTAAAGTTAAAGCTAATTTATTTTCTC TGTTTTCATTACTAACGTAAAATTTTTAGGTGGCCAGTAGAAAGAATTCC TAACAGCCAAAATCTCTGGTCTTTTAGAATGTCATTTTAAACCACTTTTC TCTCATCTTCTTATACATATTTGCTCCGACTCTACCTTTCACTGTGGGTT TCATTTACCCTGGAACCTAGGTTACTAGGGGCTGCAGGAAGTACCTGGTG CAGGGAATACTAGTACCCATTCTTTCATAGCCAGGAAAAAGGGGAGAGGG TGTTGGAATATACACAAACAAGTCAAAGTTGGGGAGACTTGAGTGCATCA AGTCGATAAGTCTTTGCCAAGTCCTGCCTACTGAGGGATGCTCAGTTTCT ACAGGGCAGGGAAGACACCTTTGGTAAGAAAATAATTTACCTTCTAGCAT TGACCCCCTTATCAATCCCTTATCCTCCTTTAGAAGAATTGAATTGCCTG TGGTTAGCTTCTAACTTCCCCAAA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0026 a0002c0003t0026	a0002c0003t0026g0076 a0002c0003t0026g0076	1	272	0.0037	-1873	c.171 others(22): Show c.1710+99057_1710+100929del		RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25						chr1	TogoVar

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